GUERRA, RIGOBERTO Jr.

A\ttmrne·'ys at La\W
Chase
. Bank Of Te~as
. - Gulfgate
-2900 Woodridge, Suite 202
Houston, Texas 77087
(713) 645-7894
(713) 645-7777 Facsimile
RALPH R. MARTINEZ LAURA S. MARTINEZ
Board Certified in Criminal Law Member of the College of the
Board Certified in Criminal Appellant State Bar of Texas
Texas Board of Legal Specialization
October 24, 2015
Kelley Reyes
Chief Deputy Clerk
Court of Criminal Appeals Via FedEx: 8659 0826 1929
Supreme Court Building
201 West 14th Street, Room 106
Austin, Texas 78701
Re: Prince Thomas-Harris; WR-83;896-01
Rigoberto Guerrero; WR-83,899..:01
Dear Ms. Reyes:
Enclosed please firid a courtesy copy of the above ·mentioned Petitioners. In regards to
Rigoberto Guerrero, I filed a prior 11.07 Writ on his behalf; however, that. Writ was
subsequently dismissed and has been refiled. This Petition was dismissed for non compliance
with Tex. App. Rule 73.l(f) (word count certificate).
I anticipate the same problem with Prince Thomas-Harris and my courtesy copy does comply
with Tex R. App. Proc. 73.1(£). Hopefully, this will avert a·dismissal.
As per our discussion on 10/14/15, I hope that my clients' Petitions can be considered by the
Court now that I am in compliance with Rule 73.1(£). I appreciate your help and courtesy.
Thank you.
RECEIVED IN -
COURT OF CRIMINAL APPEALS Sincerely,
OCT 26 2015
Abel Acosta. Clerk .
RRM/ra
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••
••
•• IN THE COURT OF CRIMINAL APPEALS
OF TEXAS
••
••
•• APPLICATION FOR WRIT OF HABEAS CORPUS
SEEKING RELIEF FROM FINAL FELONY CONVICTION
•• UNDER CODE OF CRIMINAL PROCEDURE, ARTICLE 11.07
•• PETITIONER RIGOBERTO GUERRERO JR .
TDCJ-CID NUMBER 01742548
•• ELLIS UNIT TEXAS DEPARTMENT OF
CRIMINAL JUSTICE
•• HUNTSVILLE, TEXAS
••
•• PROCEEDINGS BELOW:
•• Direct Appeal: No. 05-1101298-CR
Fifth District Court of Appeals
•• Trial Court:
Dallas, Texas
Cause No. 059446
•• 15th Judicial District Court
Grayson County, Texas
••
•• REPRESENTED BY: RALPH E.. MARTINEZ
TBA: 13143600
•• 2900 Woodridge, Suite 202
Houston, Texas 77087
•• 713-645-7894
713-645-777-Fax
••
••
••
••
•• IN THE COURT OF CRIMINAL APPEALS
OF TEXAS
••
••
•• APPLICATION FOR WRIT OF HABEAS CORPUS
SEEKING RELIEF FROM FINAL FELONY CONVICTION
•• UNDER CODE OF CRIMINAL PROCEDURE, ARTICLE 11.07
•• PETITIONER RIGOBERTO GUERRERO JR .
•• TDCJ-CID NUMBER 01742548
ELLIS UNIT TEXAS DEPARTMENT OF
•• CRIMINAL JUSTICE
HUNTSVILLE, TEXAS
••
•• PROCEEDINGS BELOW:
•• Direct Appeal: No. 05-1101298-CR
Fifth District Court of Appeals
•• Trial Court:
Dallas, Texas
Cause No. 059446
•• 15th Judicial District Court
Grayson County, Texas
••
•• REPRESENTED BY: RALPH R. MARTINEZ
TBA: 13143600
•• 2900 Woodridge, Suite 202
Houston, Texas 77087
•• 713-645-7894
713-645-777-Fax
••
••
•
••
•• COURT OF CRIMINAL APPEALS OF TEXAS
••
APPLICATION FOR A WRIT OF HABEAS CORPUS
SEEKING RELIEF FROM FINAL FELONY CONVICTION
UNDER CODE OF CRIMINAL PROCEDURE, ARTICLE 11.07
•• INSTRUCTIONS
•• 1. You must use the complete form, which begins on the following page, to me an
application for a writ of habeas corpus seeking relief from a rmal felony conviction
•• under Article 11.07 of the Code of Criminal Procedure. (This form is not for death-
penalty cases, probated sentences which have not been revoked, or misdemeanors.)
•• 2. The. district.clerkofthe county in .which .you were convicted will make this form
available to you, on request, without charge•
•• 3. You must me the entire writ application form, including those sections that do not
apply to you. If any pages are missing from the form, or if the questions have been
•• 4.
renumbered or omitted, your entire application may be dismissed as non-compliant.
You must make a separate application on a separate form for each judgment of
•• conviction you seek relief from. Even if the judgments were entered in the same
court on the same day, you must make a separate application for each one•
•• 5. Answer every item that applies to you on the form. Do not attach any additional
pages for any item.
•• 6. You must include all grounds for relief on the application form as provided by the
••
instructions under item 17. You must also briefly summarize the facts of your claim
on the application form as provided by the instructions under item 17. Each ground
shall begin on a new page, and the recitation of the facts supporting the ground shall
•• 7.
be no longer than the two pages provided for the claim in the form •
Legal citations and arguments may be made in a separate memorandum that
•• complies with Texas Rule of Appellate Procedure 73 and does not exceed 15,000
words if computer-generated or 50 pages if not.
•• 8. You must verify the application by signing either the Oath Before Notary Public or
the Inmate's Declaration, which are at the end of this form on pages 11 and 12. You
•• may be prosecuted and convicted for aggravated perjury if you make any false
statement of a material fact in this application.
•• 9. When the application is fully completed, mail the original to the district clerk of the
county of conviction. Keep a copy of the application for your records•
•• 10. ·You must notify the district clerk of the county of conviction of any change in
address after you have med your application .
••
••
•
••
•• Case No . - - - - - -
•• (The Clerk of the convicting court will fill this line in.)
•• IN THE COURT OF CRIMINAL APPEALS OF TEXAS
•• APPLICATION FOR A WRIT OF HABEAS CORPUS
SEEKING RELIEF FROM FINAL FELONY CONVICTION
UNDER CODE OF CRIMINAL PROCEDURE, ARTICLE 11.07
••
•• NAME:
DATEOFBIRTH:
Rigoberto Guerrero Jr.
-·~A=ug=u=st~1~4~,~19~8~0______________________________________
•• PLACE OF CONFINEMENT: I!is~U......
__._E..... ni.._t- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
•• TDCJ-CID NUMBER: _0_1_74_2_5_48--:------ SID NUMBER: ______0_63_9_6_24_4_____
•• (1) This application concerns (check all that apply):
•• ~
~
a conviction
a sentence
0
0
parole
mandatory supervision
•• 0 time credit 0 out-of-time appeal or petition for
•• discretionary review
•• (2) What district court entered the judgment of the conviction you want relief from?
(Include the court number and county.)
•• 15th Judicial District Court of Grayson County, Texas
•• (3) What was the case number in the trial court?
•• 059446
•• (4) What was the name of the trial judge?
•• Honorable Jim Fallon
••
•• Effective: January 1, 2014 1
•
••
•• (5) Were you represented by counsel? If yes, provide the attorney's name:
•• Jack Louis McGowen
•• (6) What was the date that the judgment was entered?
••
••
September 14, 2011
•• (7) For what offense were you convicted and what was the sentence?
•• Injuty to a child. Fifty years and Ten Thousand Dollar Fine
••
(8) If you were sentenced on more than one count of an indictment in the same court at
the same time, what counts were you convicted of and what was the sentence in each
count?
•• N/A
••
•• (9) What was the plea you entered? (Check one.)
•• 0 guilty-open plea
IX not guilty
0 guilty-plea bargain
0 nolo contendere/no contest
•• If you entered different pleas to counts in a multi-count indictment, please explain:
••
••
•• (10) What kind of trial did you have?
0 no jury ~jury for guilt and punishment
•• 0 jury for guilt, judge for punishment
••
••
•• 2
•
••
•• (11) Did you testify at trial? If yes, at what phase of the trial did you testify?
•• Guilt Innocence phase and Sentencing Phase
•• (12) Did you appeal from the judgment of conviction?
•• Dt yes D no
•• If you did appeal, answer the following questions:
•• (A) What court of appeals did you appeal to? _fifth Supreme Judicial District of Texas
••
(B) What was the case number? No 05-11-01298-CR
(C) Were you represented by counsel on appeal? If yes, provide the attorney's
•• name:
Jason Butscher
•• (D) What was the decision and the date of the decision? Affirmed
•• (13) Did you file a petition for discretionary review in the Court of Criminal Appeals?
•• D yes ~ no
If you did file a petition for discretionary review, answer the following questions:
•• (A) What was the case number?
•• (B) What was the decision and the date of the decision?
•• (14) Have you previously filed an application for a writ of habeas corpus under Article
••
11.07 of the Texas Code of Criminal Procedure challenging this conviction?
Dyes 00 no
•• If you answered yes, answer the following questions:
•• (A) What was the Court of Criminal Appeals' writ number?
••
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•• 3
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(B) What was the decision and the date of the decision?
(C) Please identify the reason that the current claims were not presented and could
•• not have been presented on your previous application .
••
••
••
••
~
• (15) Do you currently have any petition or appeal pending in any other state or federal
court?
•• Dyes ~no
•• If you answered yes, please provide the name of the court and the case number:
••
•• (16) If you are presenting a claim for time credit, have you exhausted your
administrative remedies by presenting your claim to the time credit resolution
system of the Texas Department of Criminal Justice? (This requirement applies to
•• any f"mal felony conviction, including state jail felonies)
••
Dyes D no
If you answered yes, answer the following questions:
•• (A) What date did you present the claim?
•• (B) Did you receive a decision and, if yes, what was the date of the decision?
••
•• If you answered no, please explain why you have not submitted your claim:
••
•• 4
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••
••
••
••
••
••
•• (17) Beginning on page 6, state concisely every legal ground for your claim that you are
•• being unlawfully restrained, and then briefly summarize the facts supporting each
ground. You must present each ground on the form application and a brief
•• summary of the facts. Ifyour grounds and brief summary ofthefacts have not been
presented on the form application, the Court will not consider your grounds•
If you have more than four grounds, use pages 14 and 15 ofthe form, which you
•• may copy as many times as needed to give you a separate page for each ground, with
each ground numbered in sequence. The recitation of the facts supporting each
••
ground must be no longer than the two pages provided for the ground in the form•
You may include with the form a memorandum of law if you want to present legal
•• authorities, but the Court will not consider grounds for relief set out in a
memorandum of law that were not raised on the form. The citations and argument
must be in a memorandum that complies with Texas Rule of Appellate Procedure 73
•• and does not exceed 15,000 words if computer-generated or 50 pages if not. If you
are challenging the validity of your conviction, please include a summary of the facts
•• pertaining to your offense and trial in your memorandum.
••
••
~
••
••
•- 5
••
••
••
•• GROUND ONE:
Denial ofEffectiye Assistance ofCmmsel
••
•• FACTS SUPPORTING GROUND ONE:
•• Trial counsel was ineffective for not requesting the Court to appoint an expert medica) witness or
•• consuJtant or to rise fimds to hire said eXpert to assist ¢ouris¢1 in cross examina:tjob of State lnedjcaJ
•• experts or testify as medical experts at tria] given the existence of a medical condition in complainant
•• that may have caused the injuries ascribed to defendant's actions .
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•• 7
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••
•• GROUND TWO:
Whether the prosecutor's remarks comparing Applicant to "Casey Anthony"
•• violated Applicants Due Course of Law Rights under Tex. Const. Art. I.§
10 and the Fifth and Fourteenth Amendments of the United States Constitution .
•• FACTS SUPPORTING GROUND TWO:
•• During the prosecutors closing argument he compared Applicant to
•• "Casey Anthony" a notorious and publicized criminal case of child a.buse .
•• No record of this comment or objection exists but witness affidavits
•• attached as exhibits attest to its occurrence ..
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,
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GROUND THREE:
•• Trial counsel was ineffective in representing Petitioner by not properly objecting to and insuring that both the objection and
••
prosecutor's closing argument comparing Petitioner to "Casey Anthony" was not recorded .
••
FACTS SUPPORTING GROUND THREE:
The prosecutor in this case argued his closing argument that Petitioner was comparable to "Casey
•• Anthony," an infamous and alleged child abuser who-se case was prominent in the media during
•• Petitioner's trial. This argument is attested to by several witnesses including in Exhibit "A" of this
•• Petition. The trial counsel did not properly object to or ensure the statement was recorded .
••
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•• 10
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•• 11
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•• GROUND FOUR:
Appellate counsel did not object to the exclusion of the prosecutor's closing argument to "Casey Anthony" pursuant to
•• Tex.R.App. P. 34.5(b)(l) or request the record be supplemented pursuant to Tex. R. App. P. 34(L)(l ).
•• FACTS SUPPORTING GROUND FOUR:
•• The prosecutor in this case argued his closing argument that Petitioner was comparable to "Casey
•• Anthony," ail infamous and alleged child abuser whose case was prominent in the media during
•• Petitioner's trial. This argument is attested to by several witnesses including in Exhibit "A" of this
•• Petition. The trial counsel did not properly object to or ensure the statement was recorded .
••
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•• 12
••.. --------------------------------------------------------------
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13
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•• GROUND:
••
•• FACTS SUPPORTING GROUND:
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•• 14
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'':l..
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)
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•• 15
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•• WHEREFORE, APPLICANT PRAYS THAT THE COURT GRANT APPLICANT
RELIEF TO WHICH HE MAY BE ENTITLED IN TillS PROCEEDING.
•• VERIFICATION
••
This application must be verified or it will be dismissed for non-compliance. For
verification purposes, an applicant is a person filing the application on his or her own behalf. A
petitioner is a person filing the application on behalf of an applicant, for example, an applicant's
•• attorney. An inmate is a person who is in custody.
The inmate applicant must sign either the "Oath Before a Notary Public" before a
•• notary public or the '-'Inmate's-Declaration" without a notary public.-- If the inmate is-represented
by a licensed attorney, the attorney may sign the "Oath Before a Notary Public" as petitioner and
•• then complete "Petitioner's Information." A non-inmate applicant must sign the "Oath Before a
Notary Public" before a notary public unless he is represented by a licensed attorney, in which
case the attorney may sign the verification as petitioner.
•• A non-inmate non-attorney petitioner must sign the "Oath Before a Notary Public"
•••
before a notary public and must also complete "Petitioner's Information." An inmate petitioner
must sign either the "Oath Before a Notary Public" before a notary public or the "Inmate's
Declaration" without a notary public and must also complete the appropriate "Petitioner's
Information."
•• OATH BEFORE A NOTARY PUBLIC
•• STATE OF TEXAS
COUNTY OF ___________
•• - - - - - - - - - - - - - - ' b e i n g duly sworn, under oath says: "I am
•• the applicant I petitioner (circle one) in this action and know the contents of the above
application for a writ of habeas corpus and, according to my belief, the facts stated in the
application are true."
•• Signature of Applicant I Petitioner (circle one)
••
•• SUBSCRIBED AND SWORN TO BEFORE ME THIS DAY OF _____, 20_ _.
•• Signature ofNotaiy Public
••
•• 16
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,..
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PETITIONER'S INFORMATION
•••
••';. Petitioner's printed name: Ralph R. Martinez (Representing Applicant Rigoberto Guerrero, Jr.)
State bar number, if applicable: -.~l-.;~.3..1.'14*-'3LU6..,..00~--------
•••
••• Address: 2900 Woodridge Suite 202
••• Houston Texas 77087
••
•• Telephone:
Fax:
713-645-7894
••
713-645-7777
•• INMATE'S DECLARATION
f,j ,br- ~1o {_,J.AV'JWJ V
•• I, , am the applicantletion
t/111 V1 J D (" 3- C I j)
(circle one) and
, declare under penalty of
••
being presently incarcerated in 1
perjury that, according to my belief, the facts stated in the above application are true and correct.
•• Signed on
.H.~ y
.Jkr, / Z
<\tb
0 _j_J___.
, 20
•• v
•• of Applicant I Petitioner (
••
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•• 17
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PETITIONER'S INFORMATION
Petitioner's printed name: Ralph R. Martinez (Representing Applicant Rigoberto Guerrero, Jr.)
•• Address: 2900 Woodridge, Suite 202
•• Houston Texas 77087
•• Telephone: 71 3-645-7894
•• Fax: 713-645-7777
••
•• Signed on _ _ _ _ _ _ _ _, 20_ _
••
•• Signature of Petitioner
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•• 18
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••
•• MEMORANDUM OF LAW
••
•• AND
•• POINTS AND AUTHORITIES
••
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•• MEMORANDUM OF POINTS AND AUTHORJTIES IN SUPPORT OF
••
RJGOBERTO GUERRERO'S 11.07 C.C.P. WRIT OF HABEAS COURPUS
ISSUE PRESENTED
••
•• I. Whether Trial Counsel And Appellate Counsel Effectively Represented
•• Petitioner
•• a. Ineffective Assistance of Counsel at Trial
••
•• Introduction
The right to be represented by counsel is by far the most important of a
•• defendant's constitutional rights because it affects the ability of a defendant to
•• assert a myriad of other rights. Powell v. Alabama, 287 U.S. 45, 53 S. Ct. 55, 77
•• L.Ed. 158 .
••
••
The right to the assistance of counsel is guaranteed by the Sixth and
Fourteenth Amendments to the United States Constitution and Article 1,
•• Section 10 of the Texas Constitution. This right to the assistance of counsel has
•• long been understood to include a "right to the effective assistance of counsel."
•• See, McMann v. Richardson, 397 U.S. 759, 771, n. 14, 90 S. Ct. 1441, 1449, 25
•• L.Ed.2d 763 (1970). The integrity of our criminal justice system and the
•• fairness of the adversary criminal process is assured only if an accused is
••
•
••
••
•• represented by an effective attorney. See, United States v. Morrison, 449 U.S .
361, 364, 101 S. Ct. 665, 667, 66 L. Ed. 2d 564 (1981). Absent the effective
•• assistance of counsel "a serious risk of injustice infects the trial itself." Cuyler
•• v. Sullivan, 446 U.S. 335, 343, 100 S. Ct. 1708, 1715, 64 L. Ed. 2d 333 (1980) .
•• Thus, a defendant is constitutionally entitled to have effective counsel acting in
•• . -- .. - -
the role of an advocate. See, Anders v. California, 386 U.S. 738, 743, 87 S. Ct .
•• 1396, 1399, 18 L. Ed. 2d 493 (1967) .
•• The Legal Standard
•• The United States Supreme Court in Strickland v. Washington, 466 U. S .
•• 668, 104 S. Ct. 2052, 80 L. Ed. 2d 674 (1984) established the federal standard
•• for determining whether an attorney rendered reasonably effective assistance of
••
counsel. The Texas Court of Criminal Appeals in Hernandez v. State, 726 S .
W.2d 53, 57 (Tex. Crim. App. 1986) adopted the Strickland test as the proper
•• test under state law to gauge the effectiveness of counsel. Pursuant to that test
•• the defendant must show that counsel's performance was deficient; that is, a
•• showing that counsel made errors so serious that counsel was not functioning
•• as the "counsel" guaranteed by the Sixth Amendment. In addition, the
•• defendant must show that the deficient performance prejudiced the defense .
•• This requires showing that counsel's errors were so serious as to deprive the
•• defendant of a fair trial, a trial whose result is reliable .
••
•
••
••
•• Strickland v. Washington, 466 U.S. at 687, 104 S.Ct. at 2064 .
•• The purpose of the Strickland two part test is to judge whether counsel's
conduct so compromised the proper functioning of the adversarial process that
•• the trial cannot be said to have produced a reliable result. Thompson v. State, 9
•• S.W.3d 808, 812-13 (Tex. Crim. App. 1999) (citing McFarland v. State, 845
•• S.W.2d 824, 843 (Tex. Crim. App. 1992)) .
•• The Strickland test applies to appointed and retained counsel alike. See,
•• Cuyler v. Sullivan, supra at 344, 100 S. Ct. at 1716. It also applies to all stages of
•• a criminal trial. See, Hernandez v. State, 988 S.W.2d 770 (Tex. Crim. App .
•• 1999)(Strickland applies to claim of deficient attorney performance at
•• noncapital sentencing proceeding). It applies when evaluating an attorney's
•• performance in connection with a guilty plea. See, Hill v. Lockhart, 474 U.S. 52,
•• 106 S. Ct. 366, 88 L. Ed. 2d 203 (1985)(prejudice prong of Strickland requires
•• defendant to show that but for counsel's errors he would not have entered a
•• guilty plea). It even applies to an attorney's performance in handling an appeal. .
See, Evitts v. Lucey, 469 U.S. 387, 105 S. Ct. 830, 83 L. Ed. 2d 821 (1985)(due
•• process requires that defendant have effective assistance of counsel on his first
•• appeal) .
••
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••
••
••
•• Exceptions to Strickland
•• These are some errors that "are so likely to prejudice the accused that the
•• cost of litigating their effect in a particular case is unjustified" thus making it
•• unnecessary to establish the prejudice prong of Strickland. United States v.
•• Cronic, 466 U.S. 648, 658, 104 S. Ct. 2039, 2046, 80 L. Ed. 2d 657 (1984) .
Prejudice is presumed in situations where the likelihood of counsel having
•• provided effective assistance is extremely small such as where counsel failed
•• completely to subject the prosecution's case to "meaningful adversarial
•• testing." Id. at 660, 104 S.Ct. at 2047 (citing in illustration Powell v. Alabama,
•• 287 U.S. 45, 53 S. Ct. 55, 77 L. Ed. 158 (1932)). According to the Court of
•• Criminal Appeals, it is unnecessary for a defendant to meet the prejudice
•• requirement of Strickland if he was actually or constructively denied the
•• assistance of counsel altogether, if counsel was prevented from assisting the
•- accused at a critical stage of the proceedings because of some. type of state
•• interference, or if counsel was burdened by an actual conflict of interest which
adversely affected counsel's performance. Mitchell v. State, 989 S.W.2d 747,
•• 748 (Tex. Crim. App. 1999). "Apart from circumstances of that magnitude,
•• however, there is generally no basis for finding a Sixth Amendment violation
•• unless the accused can show how specific errors of counsel undermined the
•• reliability of the finding of guilt." United States v. Cronic, supra at 659 n. 26,
••
~
••
••
•• 104 S. Ct. at 2047 n. 26. In other words, in order for the presumption of
•• prejudice to apply the attorney must completely fail to challenge the
prosecution's entire case, not just elements of it. Haynes v. Cain, 298 F.3d 375,
•• 380, 382 (5th Cir. 2002) en bane; also see Bell v. Cone, 535 U.S. 685, 122 S.Ct .
•• 1843, 1851, 152 L. Ed. 2d 914 (2002) (noting that difference between situations
•• addressed by Strickland and Cronic is "not of degree but of kind.") .
•• Raising Ineffective Assistance
••
•• Rule 33.1(a) of the Texas Rules of Appellate Procedure generally
•• requires that a complaint be presented to the trial court "by a timely request,
••
objection, or motion" as a prerequisite to raising the complaint on direct
appeal. TEX. R. APP. P. 33.1(a). There are, however, many practical
•• difficulties with requiring a defendant to raise the issue of ineffective
•• assistance of counsel at the time of trial or even in a motion for new trial. See,
•• Robinson v. State, 16 S.W.3d 808, 810 (Tex. Crim. App. 2000). The biggest
•• difficulty is that there is generally no real opportunity to adequately develop
•• the record for appeal at this time. !d. This creates a usually insurmountable
•• hurdle to raising an ineffective assistance claim on direct appeal. "Rarely will a
•• reviewing court be provided with the opportunity to make its determination on
•• direct appeal with a record capable of providing a fair evaluation of the merits
••
•
••
••
•• ofthe [ineffective assistance] claim ... ". Thompson v. State, 9 S.W.3d 808, 813
(Tex. Crim. App. 1999). Thus, for most ineffective assistance claims, a writ of
•• habeas corpus is the preferred method for raising the issue. Ex parte Torres, 943
•• S.W.2d 469, 475 (Tex. Crim. App. 1997). For a multitude of reasons,
•• ineffective assistance claims are excepted from the general rule of error
•• preservation set forth in Rule 3 3.1 (a) and may be raised in an application for
•• writ of habeas corpus even if not raised first in the trial court. Robinson v. State,
•• supra at 812-13 .
•• This is not to say that an ineffective assistance claim may not be raised in
•• the trial court or on direct appeal, it can. For example, such a claim may be
•• raised in a motion for new trial. Reyes v. State, 849 S.W.2d 812, 815 (Tex .
•• Crim. App. 1993) .
•• Burden of Proof
•• The burden of proving ineffective assistance of counsel rests on the
•• convicted defendant by a preponderance of the evidence. Haynes v. State, 790
•• S.W.2d 824, 827 (Tex. Crim. App. 1990). In order to determine whether the
•• defendant has met this burden, the reviewing court looks to the totality of the
•• representation and the particular circumstances of the case in evaluating the
•• reasonableness of an attorney's conduct. See, Ex parte Felton, 815 S.W.2d 733,
••
•
••
••
•• 735 (Tex. Crim. App. 1991). The review conducted of defense counsel's
•• representation is "highly deferential and presumes that counsel's actions fell
within a wide range of reasonable assistance." Mallett v. State, 65 S.W.3d 59,
•• 63 (Tex. Crim. App. 2001)(citing Tong v. State, 25 S.W.3d 707, 712 (Tex .
•• Crim. App. 2000)). It is the defendant's burden to overcome this presumption
•• by proving his ineffective assistance of counsel claim by a preponderance of
•• the evidence. McFarland v. State, 845 S.W.2d 824, 843 (Tex. Crim. App .
•• 1992); Moore v. State, 694 S.W.2d 528, 531 (Tex. Crim. App. 1985); also see,
•• United States v. Cronic, supra at 658, 104 S. Ct. at 2046 (the burden rests on the
•• accused to demonstrate a constitutional violation) .
•• The Court of Criminal Appeals emphasized in Thompson v. State, supra
•• that a claim of ineffective assistance of counsel must be supported by a record
•• containing direct evidence as to why counsel took the actions or made the
•• omissions relied upon as the basis for the claim. Id. at 813-14.; accord, Busby v .
State, 990 S.W.2d 263, 268-69 (Tex. Crim. App. 1999)(ordinarily the strong
•• presumption that an attorney's decisions were acceptable trial strategy cannot
•• be overcome without evidence in the record as to the attorney's reasons for the
•• decisions). While there may be some actions that unquestionably fall outside
•• the spectrum of objectively reasonable trial strategy, generally, the Court of
•• Criminal Appeals requires a defendant to offer evidence from his attorney
••
•
••
••
•• explaining his actions in order to overcome the presumption that counsel acted
••
pursuant to a reasonable trial strategy. See, Garcia v. State, 57 S.W.3d 436, 440
(Tex. Crim. App. 2001 )(court will not conclude challenged conduct constituted
•• deficient performance unless conduct was so outrageous that no competent
•• attorney would have engaged in it); also see, Thompson v. State, supra at 816
•• (Meyers, J., dissenting)(inconceivable that defense counsel could have had a
•• reason for failing to object to certain hearsay that would fall within the range of
•• objectively reasonable trial strategy). It should be kept in mind, however, that
•• simply labeling an attorney's actions "trial strategy" does not insulate the
•• attorney from a finding of ineffective assistance of counsel. An attorney's
•• strategy can be so ill-chosen as to render a trial fundamentally unfair. See,
••
United States v. Rusmisel, 716 F.2d 301, 310 (5th Cir. 1983). As the Supreme
Court explained in Strickland, strategy decisions should be judged by an
•• objective standard of reasonableness. Strickland v. Washington, supra, 466 U.S .
•• 687-88; 104 S. Ct. at 2064 (emphasis added) .
•• Once a convicted defendant establishes that his attorney's actions were
•• objectively unreasonable, he must still prove that he was prejudiced by his
•• attorney's actions. To establish prejudice, he "must show that there is a
•• reasonable probability that, but for counsel's unprofessional errors, the result
•• of the proceeding would have been different." Strickland v. Washington, 466 U .
••
•
••
••
•• S. at 694, 104 S. Ct. at 2068. The focus of the prejudice component is whether
•• counsel's deficient performance renders the result of the trial unreliable or
••
fundamentally unfair. ld. at 687, 104 S. Ct. at 2064. It is not enough to argue
that the attorney's errors had some conceivable effect on the outcome of the
•• proceeding, rather the convicted defendant must establish a "reasonable
•• probability" of actual prejudice. !d. at 693, 104 S. Ct. at 2067. "A reasonable
•• probability is a probability sufficient to undermine confidence in the outcome."
•• I d. at 694, 104 S. Ct. at 2068 .
•• While a convicted defendant must establish actual prejudice from his
•• attorney's conduct, the State cannot avoid the consequences of a finding of
•• ineffective assistance by arguing that the prejudice is de minimus. For
•• example, any amount of additional time in prison constitutes prejudice. Gloverv.
United States, 531 U.S. 198,203, 121 S.Ct 696,700, 148 L.Ed2d 604 (2001).
•• This standard does not require error free or perfect counsel. Ex parte
•• Briggs, 187 S.W.3d 458, 466-467 (Tex. Crim. App. 2005). Nor, will courts
•• isolate separate or portions of counsel's performance in assessing a defendant's
•• right to effective representation. Ex parte Welborn, 785 S.W.2d 391, 393 (Tex .
•• Crim App. 1990); Johnson v. State, 629 S.W.2d 731, 736 (Tex. Crim. App .
•• 1981). However, even if no one instance alone is sufficient proof of
•• ineffective assistance of counsel, counsel's performance as a whole may
••
•
••
••
•• compel such a finding. Ex parte Welborn, supra, Winn v. State, 871 S.W. 2d
•• 756, 764-765 (Tex App.-Corpus Christi; 1993, no ~.) Conversely, it is
possible that a single error of omission or commission by trial counsel
•• constitutes ineffective assistance of counsel. Jackson v. State, 766 S.W.2d
•• 504, 510 (Tex. Crim. App. 1985) (modified on other grounds on remand from
•• the United States Supreme Court, Jackson v. State, 766 S.W.2d 518 (Tex .
•• Crim. App. 1988) .
•• b. Failure to Investigate, Hire Experts, and Develop A Viable Defense
•• Counsel has a duty to make reasonable investigations or to make a
•• reasonable decision that makes particular investigations unnecessary. Ex Parte
•• Briggs, 187 S.W.3d 458, 466-467 (Tex. Crim. App. 2005). This duty requires
•• counsel to promptly investigate the circumstances of the case and explore all
avenues likely to lead to facts relevant to the particular merits of the case. I d .
•• at 467. Also, in many cases counsel must seek out experts in a given case,
•• consult those experts in preparing the case and examining expert witnesses for
•• the State, and utilizing expert testimony in defending a client. I d. at 469 .
•• Counsel also has a professional duty to fully investigate and advance a
•• client's viable defenses with or without regard to the necessity of expert
•• assistance Me Farland v. State, 928 S.W.2d 482, 501 (Tex. Crim. App. 1996);
•• Jackson v. State, 857 S.W.2d 678, 683 (Tex. App.-Houston [14th Dist.] 1993) .
••
•
••
••
•• Furthermore, where circumstances necessitate it, trial counsel is obligated to
•• seek out expert assistance to assist in cross-examination if the State's expert
••
witnesses or secure expert testimony in order to adequately develop a client's
viable defense. Wright v. State, 223 S.W.3d 36, 43-44 (Tex. App.-Houston [1st
•• Dist.] 2006) .
•• Counsel 1n Petitioner's case rendered ineffective representation of
•• counsel. Trial counsel's performance was deficient because he did not avail
•• himself of the opportunity to explain that complainant's apparent injuries were
•• actually manifestations of a low vitamin D medical condition. Circumstances
•• suggest that complaint's medical condition constituted a viable defense in
•• Petitioner's case. The presence of this condition in complainant was attested to
•• by the comments by the prosecutor and defense counsel to the Court at the
••
pretrial hearing in the case (R.-Vol. II p. 9, 14, 17, 18). Even though the
prosecutor dismissed the viability of complainant's condition as a case of
•• injuries, trial counsel was on notice that the condition in complainant existed .
•• Nevertheless, trial counsel did not employ an expert witness to assess the
•• viability of the defense, assist counsel in cross-examining medical personnel in
•• the case, or provide an expert witness in the case to demonstrate the potency of
•• the medical cause defense. Even more unbelievable is that the complainant's
•• half-brother, Lucas Guerrero, suffered from the same medical condition that
••
•
••
••
•• Mathew Guerrero experienced. In addition, Petitioner was previously charged
•• with child abuse against Lucas but the charges were dismissed when the State
•• ascertained the apparent injuries that Lucas exhibited were a result of the
medical condition of Lucas, the same condition that Mathew suffered from (R.-
•• Vol. II p. 9, 14, 17, 18). Counsel knew about Petitioners experience with
•• Lucas, knew Mathew suffered from the same condition, knew charges
•• involving Lucas against Petitioner were dropped, and yet, never explored the
•• availability of this condition in Mathew as a defense .
•• The failure to secure expert assistance in advancing a viable defense,
•• when such assistance is necessary, constitutes deficient performance by
•• counsel. In Ex Parte Briggs, the sole issue in the case was whether the
•• complainant was murdered or if his death was a result of natural causes,
exacerbated by improper medical treatment. Ex Parte Briggs, 187 S.W. 3d at
•• 468. The Court in Ex Parte Briggs held that counsel was deficient because he
•• failed to produce an expert to resolve the cause of death issue. Id .
•• Furthermore, the Court concluded subpoena doctors who had treated the victim
•• and introduced the medical records and history through those witnesses. Id. In
•• addition, defense counsels' failure to call experts was a financial decision that
•• could have been ameliorated by an application for indigency court paid funds
•• to hire an expert. Id .
••
•
••
••
•• The courts have found counsel deficiency for failure to investigate and
•• develop a defense. In Wright v. State, the Court held that counsel was
•• deficient because he failed to advance the defensive theory of undue influence
on a child and the child's fabrication of child abuse charges. Wright v. State,
•• 223 S.W.3d at 44. In that case, the Court held counsel should have utilized an
•• expert to establish interviews deviated from standard interview protocol and
•• the potential of false allegations of child abuse in divorce proceedings. Id at
•• 45 .
•• In Jackson v. State, the Court held counsel was deficient for his failure to
•• investigate and develop his client's defense of mental illness and other
•• pertinent defenses despite knowing that the defense existed. Jackson v. State,
•• 857 S.W.2d at 683 .
••
In Petitioner's case, trial counsel was deficient because he failed to
investigate this case and did not develop viable defenses. Trial counsel had
•• notice that the complainant had low vitamin D levels, a medical condition that
•• causes bone structure to become brittle and exhibit characteristics of child
•• abuse. In fact, trial counsel had knowledge that his client was wrongfully
•• charged with child abuse involving complainant's halfbrother, Lucas Guerrero .
•• Ultimately the child abuse charges that involved Lucas were dismissed against
•• Petitioner after authorities determined that Lucas suffered from the medical
••
•
••
••
•• condition that led to a misdiagnoses of child abuse (R.-Vol. II p. 9, 14, 17, 18) .
Moreover, trial counsel had possession of a medical report prepared by Dr .
•• Suzanne DaKill that trial counsel introduced as evidence that indicated the
•• complainant had low vitamin D levels (R.-Vol. VI p. 44-46). In addition, the
•• trial court seemed to suggest trial counsel should employ a medical expert in
•• the case or petition the court for indigent funds to appoint a medical expert (R.-
•• Vol. II p. 7, 15). Trial counsel had notice of potential medical issues dealing
•• with "child abuse like" symptoms involving Lucas and Mathew Guerrero (R.-
•• Vol. II p. 13, 17, 18) .
•• During Petitioner's trial, trial counsel failed to cross-examine Dr. Jill
••
Breeze, the medical doctor that has treated Mathew Guerrero since birth (R.-
Vol. VI p. 6). During cross-examination of Dr. Breeze trial counsel never
•• questioned the doctor regarding Mathew's low vitamin D level impact on
•• Mathew's bone structure and potential for creating child abuse symptoms or if
•• the medical condition made the child susceptible to injury and fracture (R.-Vol.
•• VI p. 15-17). In addition, trial counsel never subpoenaed or introduced into
•• evidence Mathew's medical records that Dr. Breeze possessed. Also, at no time
•• did trial counsel introduce a medical expert to explain Dr. Breeze medical
•• records (R.-Vol. VI p. 15-17) .
•• The records also indicates that Dr. Suzanne DaKill concluded in her
••
•
••·,·
••,.--· medical report concemmg Mathew that his vitamin D levels were not
',.;.
·~• significantly low and had nothing to do with the child's injuries (R.-Vol. VI p.
·•·....\.
45-46). Trial counsel, despite having at least a year notice of Mathew's
medical condition, never challenged Dr. Dakill' s testimony with a defense
•• medical expert or a consulting expert to help cross-examine Dr. Dakill (R.-Vol.
•• VI p. 15-17). Also, trial counsel failed to re-cross Dr. DaKill on this issue
••
even after the testimony of Dr. DaKill regarding the effect of low vitamin D
levels ofMathew was raised on the state's re-direct (R.-Vol. VI p. 48) .
•• The failure of defense counsel to utilize an expert as a witness to counter
•• Dr. DaKill's contention that Mathew Guerrero's injuries were not a product of
•• Mathew's low vitamin D levels deprived Petitioner of a viable defense .
•• Moreover, trial counsel did not utilize a consulting expert to help develop this
•• defense relating to low vitamin D levels and assist trial counsel in cross-
•• examining Dr. DaKill and Dr, Breeze on this issue. These circumstances,
•• especially failing to petition the court for funds to pay for an expert or heed the
•• court's suggestions that an expert could be requested by the defense on an
••
indigency basis constituted a failure to investigate and develop a defense
rendering trial counsel's performance deficient. Ex parte Briggs, 187 S.W.3d
•• at 468. This deficiency in this case exacerbated by trial counsel's failure to
•• cross examine Dr. DaKill on the issue of the effect of Mathew's medical
••
••
•
, .•
••'••,.
\.·,·.,. condition on the nature of his injuries. This failure to cross-examme Dr.
DaKill was even more detrimental to Petitioner because trial counsel failed to
cross-examine Dr. DaKill after she testified Mathew's medical condition did
,.••'·!·
~~· not contribute to his injuries. The failure to impeach Dr. DaKill constituted
deficient performance. Ex Parte Ybarra, 629 S.W.2d 943, (Tex. Crim. App .
•• 1982). In essence, counsel's failure to cross-examine or offer medical expert .
•• evidence to challenge Dr. DaKill's conclusions regarding the medical
•• condition issue was tantamount to accepting the State's theory in this case that
•• Mathew's injuries were not caused in any way by his medical condition that
•• makes counsel's representation deficient. Craig v. State, 847 S.W.2d 434,
•• (Texas. App.-El Paso 1993, no pet.) .
•• Trial counsel's deficient performance prejudiced Petitioner's case to the
extent that counsel's errors were so serious as to deprive Petitioner of a fair
•• trial whose result was reliable. Where trial counsel in a given case, such as
•• Petitioner's case, fails to subpoena the treating doctors and their medical
•• records that establish a defendant's medical history that impacts or supports a
•• defense theory prejudice exists. Ex parte Briggs, 187 S.W.3d at 469-470. In
•• Petitioners case trial counsel's failure to investigate and subpoena the
•• complainant's low level vitamin D and hire experts to explain that
•• complainant's injuries, even in part, could have resulted from the existence of
••
••
••
\.·•.•
'I.1.
'
this medical condition makes counsel's deficient performance more
). prejudicial. Id. at 469. The failure to advance a viable defense or potentially
\.).\.
·~•
~··
viable defense by investigating a defendant's medical history, present that
evidence to support that defense, and utilize expert testimony or at least utilize
a consulting expert to advance a defense can be prejudicial. Wright v. State,
~·. 223 S.W.3d at 43-44.
~·
•• In short, trial counsel's failure to even request medical expert to testify at
•• trial or to serve as a consultant was ineffective assistance of counsel because
•• the medical history of the complainant may have caused the injuries Petitioner
•• was charged for committing. Given this history and the presence at trial of
•• several State experts that were not countered by defense experts defective
•• representation occurred and resulted in prejudice to Petitioner. The presence of
••
defense experts was "likely to be a significant factor" at trial. Ake v .
Oklahoma, 470 U.S. 68, 105 S. Ct. 1087, 84 L. Ed. 2d 53 (1985); Ex Parte
•• Flores, 387 S.W.3d 626, 634 (Tex. Crim. App. 2012); Ex Parte Jimenez, 364
•• S.W.3d 866, 876 (Tex. Crim. App. 2012) .
•• In a recent case, the Court of Criminal Appeals held that trial counsels
•• were ineffective for failure to present an available medical expert witness on
•• sodium intoxication that also contradicted the theories of the defendant's guilt
•• advanced by the State especially where trial counsel's decision not to call that
••
••
,..
,
•.•
:
expert was not a result of any thoroughly investigated trial strategy and a
• •• reasonable decision by defense attorneys. Ex Parte Overton, 444 S.W.3d 632,
••
640 (Tex. Crim. App. 2014). Furthermore, in Overton the Court concluded
.,• that with that testimony the State's experts would have been refuted and the
cause of the complainant's death was result of a medical condition and not to
•• defendant's conduct. I d. at 641 .
•• In Petitioner's case defense counsel failed to call medical experts who
•• treated Mathew Guerrero and that evidence in all reasonable probability would
•• have resulted in a different outcome .
•• II. Improper Closing Argument
•• It is error to argue outside the record where the argument injects new and
•• harmful facts. Baker v. State, 177 S.W.3d 113, 125-126 (Tex. App.-Houston
[1st Dist.] 2005, no pet.). Argument that injects new facts outside the record is
•• reversible where, in light of the record as a whole, the argument is extreme or
•• manifestly improper. Wright v. State, 178 S.W.3d 905, 929 (Tex. App.-
•• Houston [14th Dist.] 2005, pet. ref' d). Comparing a defendant or his acts to a
•• notorious criminal is considered an improper and erroneous interjection of
•• facts not in the record that is harmful to the defendant. Gonzalez v. State, 115
•• S.W. 3d 278, 284-285 (Tex. App.-Corpus Christi 2003, pet ref' d). In Gonzalez
•• the prosecutor compared the defendant to Osame Bin Laden .
••
•
••
••
•• In the instant case, the prosecutor, compared Defendant to "Casey
Anthony" a well publicized case of a child abuse death that occurred at the
•• time of Defendant's trial. No objection was made and no reference to that
•• comment by the prosecutor exists in the record. However, attached affidavits
•• of witness who lead the argument and also heard the Court "strike the matter
•• from the record" .
••
••
••
••
••
••
••
••
••
••
••
••
••
••
•
••
••
•• CERTIFICATE OF COMPLIANCE
•• Pursuant to Tex. R. App. Proc. 73.1 (f), undersigned counsel certifies
•• that this petition complies with the type-volume limitations of 5th CIR. R .
•• 32.2.7(b) .
1. Exclusive of the portions exempted by Tex. R. App. Proc. 73.1, this
•• petition contains 4, 156 words printed in a proportionally spaced typeface .
•••• 2. This petition is printed in a proportionally spaced, serif typeface using
•• Times New Roman 14 point font in footnotes produced by Microsoft Word
•• software .
3. Upon request, undersigned counsel will provide an electronic version of
•• this petition and or a copy of the word printout to the Court .
•• 4. Undersigned counsel understands that a material misrepresentation in
•• completing this certificate, or circumvention of the type-volume limits in Tex .
•• R. App. Proc. 73.1 (f), may result in the Court striking this petition and
•• imposing sanctions against the person who signed it .
••
••
•• By: /S/ RALPH R. MARTINEZ
RALPH R. MARTINEZ
•• Attorney for Appellant
••
••
••
••
••
••
••
••
•• . . - ~- ·--
AFFIDAVIT OF DOCTOR
- - - --- ..... -- - ...... --
•• GOLDER WILSON
••
•• ON
•• MEDICAL CONDITION
••
•• OF MATHEW GUERRERO
••
••
••
••
••
••
••
••
•
•••
••••
,.',.
.
·-\· AFFIDAVIT
.,.~·
',.~·,.
BEFORE ME, the undersigned authority, on this day personally appeared
&o l Qet( WJ t.SvAJ , who, being by me duly sworn., deposed as follows:
"My name is (.,v t.. Qi& fA!tt.lroA f , I am of sound mind, capable of making this
affidavit, and personally acquainted with the facts he~ein stated:
•• _. _~. __ l (e,e,LM!lJID~W Qg~rr.~m "~ ..f:hlm::J2i!PJq~_§m<:ifgm~-(£!?~), .l:l IMe, . trm.Y.ti~d ~9I!c.i't~q~
with disruption of the integrity of structural proteins in skins, ligaments, cartilage, and blood
••••
vessels, leading to the fragility of connections tissues_
T do not recall seeing a vitamin D level in Matthew Guerrero; however, further
examination of Mathew may be necessary to determine if his vitamin D level are low. Patient
•• with EDS are frequently vitamin D deficient.
Specifically EDS patients may feature atrophic SCARS, multiple bruises, skin splitting
•• and the presence of blue sclerae and epicanthic folds. EDS patients may also exhibit bruising in
the body.
••
••
••
•• SWORN TO AND SUBSCRffiE. before me on the
•• My commission expires:
••
••
••
••
••
••
••
••
••
••
••
••
••
•• ,_ • -
MEDICAL CONDITION
.~·. k ·-· '··- · - • • •• :
•• OF
••
•• LUCAS GUERRERO
••
••
••
••
••
••
••
••
••
••
••
•
•.•
.
·~
•
~~~~~
~
Pediatric Genetics
••
March 22, 2014
Dr. Malgorzata Gajda
Hllltop Pediatrics
••
•
300 N Highland Ave Suite 542
Sherman, TX 75092
Dear Dr. Gajda:
RE: Lucas Guerrero BD: 9-4-1999
• I had seen Lucas Guerrero on March 17, 2014 and feel that he has a form ofEhlers-Danlos syndrome (EDS) type I characterized by
.~.~tall.stature,,hypermobility,,arthralgia;.and.some,sy.mptoms.ofparoxysmal,orthostaticJachy~ardia,syndrome.,.{EQ_I.SLJg~nt..in~l,!f,@~~" '"
information to the Gene Ox company to ascertain self-pay costs for the new exome sequencing test that examines the coding regions of
• all 23,000 genes. This would include the trio of samples from a child/adult and their two parents. I now have the response from Ms.
••
Alderdice, the genetic counselor for GeneDx that coordinates benefits and sampling for exome sequencing. Her response below
indicates a $1117 out-of-pocket costs for this $9000 test, so it may be best to wait until the exome sequencing costs dec liners since it
is new and we may not receive information that is of practical use for medical management. However, the family could contact Ms.
••
Alderdice or the patient advocate line for further discussion .
If the family wishes to proceed with testing, they could make a follow-up appointment with me so we can fill out the requisitions,
••
draw blood, and send to Gene Ox. There is also a network of GeneDx draw locations that can be helpful if relatives live out of town or
far from my office in Medical City hospital. If blood is drawn at an outside location, I can forward requisitions for testing to GeneDx.
Once the blood is drawn, there will be a 4-5 month wait for results and I will send copies to the family and their doctors as specified .
••
In many cases a follow-up appointment for discussion of these complex results should be considered, I would ask the family to contact
Ms. Alderdice or make a follow-up appointment with me to proceed with testing. As always, they should feel free to contact me with
further questions or concerns .
••
Dr. Wilson,
For Lucas Guerrero, the out of pocket cost is $3726. With the financial
••
assistance program, we could reduce this to $1117.8 which could be paid in a 12 month
payment plan if needed. Anyone with any amount out of pocket is strongly encouraged to
call out Patient Advocate Line at 1-866-383-1925. They have been bringing out of pocket
costs down quite a bit lately to make testing affordable to patients. Your patients are
••
also welcome to give me a call to discuss.Thanks!
Melissa Alderdice, MS, CGC
Gene Dx (P) 214-250-2427
Neurology Product Specialist
(F) 214-501-5395
•• Sin~t~
malderdice@genedx.com
Genetics & Metabolism
••
Personalized medicine, prenatal counsel
Dysmorphology, birth defects Development delays, mental disability
Prenatal counseling Growth, obesity, ADHD, behavior issues
Dallas: Phone 972-566-2500 Plano: Phone 972-312-0440
••GoaW1lson MD, PhD
Certified in Pediatrics & Medical Genetics
Information/questions: Phone: 214-797-0031
Medical City Hospital Suite 8311
7777 Forest Lane
Dallas TX 75230
Miranda Ramirez Pediatrics
3608 Preston Rd, Suite 125
Plano TX 75093
••
cc:
Email: TheGgnome@aol.com Fax 972-566-2505 Fax 469-467-9343
More information: www.kinderGgnome.biz
••Ralph Martinez Attny
29000 Woodridge Ste 202
Rigoberto, Raquel Guerrero
1212 S Hazelwood St
••
Houston TX 77087 Sherman TX 75090
••
•
••
••
••
•• ~
Pediatric Genetics
••
March 18,2014
Dr. Malgorzata Gajda
Hilltop Pediatrics
•• 300 N Highland Ave Suite 542
Shennan, TX 75092
••• Dear Dr. Gajda:
.RE: ..Lucas Guerrero" .. .f3.D: 9.::.f!-.,.1.995L,..
•• Thank you for referring Lucas Guerrero who I saw again on March 17, 2014 in our Medical City office for
outpatient genetic consultation. Lucas is 14 years old and came in with his grandmother for discussion of genetic
testing. My overall impression was that Lucas has a moderate form ofEhlers-Danlos syndrome (EDS) type I
•• characterized by tall stature, hypermobility, arthralgia, and some symptoms of paroxysmal orthostatic
tachycardia syndrome (POTS). I had inquired of the GeneDx company what the family self-pay would be for
exome sequencing that examines all23,000 human genes, and they responded that the family would have
•• minimal out-of-pocket costs. I will now resend their new insurance information to confirm full insurance
coverage, and we will try to arrange the exome test for Lucas, his mother in Flower Mound, and his father
who is incarcerated in Tennessee Colony Texas. I will send a follow-up letter when we have the out-of-pocket
•• estimates with potential blood draw mechanisms for the parents .
PAST MEDICAL IDSTORY: I had previously documented the history of several infantile fractures which
•• resulted in placement with his grandmother since age 1 year. He had some development delays with need for ECI
that may have reflected healing from fractures since he has done well in school until recently. He had some physical
therapy at age 8-9 years and he has had normal language. Symptoms such as joint popping, arthralgias, fractures in
••
his L foot, and stomach issues suggestive of IBS suggest the diagnosis ofEDS, and some urologic issues along with
dry eyes have suggested POTS along with dizziness on standing, hypotension, enjoyment of salty foods, occasional
fatigue and "brain fog," the latter possibly accounting for some school difficulties. He was told that he has collapsed
••
arch~s in his feet.
FAMILY IDSTORY: The previously documented family history indicates that Lucas has half-brothers Jacob and
••
Matthew, the latter with early fractures that in 2009 resulted in his father having criminal charges of child abuse
with incarceration. Grandmother (mother of the three boys' father), does not have contact with these other
grandchildren, but thinks that Jacob may have had an arm fracture. Grandmother is a nurse working in dialysis and
••
has had several symptoms ofEDS-joint pains with flexibility, migraines, menorrhagia, and endometriosis. She has
another son in addition to Lucas' father with joint issues and a daughter who has a son, age 9, with flexibility,
asthma, and eczema.
•• PHYSICAL EXAMINATION: Lucas was 6-2 'l'2(90th centile for age) and weighed 163 lbs (50th centile for age)
with a head circumference of22.5 inches (901h centile for age). He continues to grow rapidly (6-1 at his last visit)
and has a slender, fit build that will help prevent wear-and-tear joint injury.
•• H EENT: Normal hair pattern and texture with normal head shape; normal facial appearance with no subtle
anomalies of the eyes, ears, or jaw..
Back: Mild dextroscoliosis in thoracolumbar region with angle of about 5 degrees.
•• Extremities: Normal proportions with normal palmar creases. I previously documented moderately increased joint
laxity with Beighton hypermobility scale of 5-6/9). He has long fingers and the thumb-little finger overlap around
wrist (Walker-Murdoch) and thumb through fist (Hoffinan) signs were positive.
•• Skin: Soft texture with hyperelasticity sufficient to give a 1 inch fold on his forearm .
Neuro: No focal neurologic deficits. He is very interactive and conversational with obvious normal intelligence. He
has good coordination and balance as judged by tandem walk
••
•
••
••
RE: Lucas Guerrero BD: 9-4-1999
•• IMPRESSION: My impression remains that Lucas has a moderate form ofEhlers-Danlos syndrome (EDS) type I
with evidence for skeletal, gastrointestinal and vascular changes. I cannot exclude a form ofMarfan syndrome
although he has not yet had any aortic or cardiac changes, but the type IV EDS syndrome is unlikely since he does
•• not have a pinched lower face or translucent skin .
RECOMMENDATIONS: I will recontact the GeneDx company to ascertain what the self-pay costs would be for
•• exome sequencing (list price fo $9000) based on their new insurance. If covered, we can arrange blood draws for
Lucas and his parents, and have urged his grandmother to contact me (email best) with new questions or concerns .
.~,,~
•• Genetics & Metabolism
Dysmorphology, birth defects
Prenatal counseling
Personalized medicine, prenatal counsel
Development delays, mental disability
Growth, obesity, ADHD, behavior issues
. • .___ ,. .... ~- .Dallas:J?hone,9.Z2c:566.:25Q.O.~.,,"' .......J?,l;3QO:~Rh
••
Medical City Hospital Suite 8311
Certified in Pediatrics & Medical Genetics 7777 Forest Lane
Information/questions: Phone: 214-797-0031 Dallas TX 75230
••
Email: TheGgnome@aol.com Fax 972-566-2505
More information: www.kinderGgnome.biz
cc:
•• Ralph Martinez Attny
29000 Woodridge Ste 202
Houston TX 77087
Rigoberto, Raquel Guerrero
1212 S Hazelwood St
Sherman TX 75090
••
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••
••
••
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••••
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~
Pediatric Genetics
December 12,2013
·-•• Dr. Malgorzata Gajda
Hilltop Pediatrics
300 N Highland Ave Suite 542
Sherman, TX 75092
··~----·-·-··-~,--~-· "~--- --·---··-·---~-=···": ··-- ........ ~-··-·
• Dear Dr. Gajda:
•• Thank you for referring Lucas Guerrero who I saw on December 12, 2013 in our Plano office for outpatient
genetic consultation. Lucas is 14 years old and came in with his grandmother for evaluation of a possible
connective tissue dysplasia. My overall impression is that Lucas has a moderate form ofEhlers-
•• Danlos syndrome (EDS) type I characterized by hypermobility, arthralgia, and some symptoms of
paroxysmal orthostatic tachycardia syndrome (POTS). I will inquire of the Gene Ox company what
the family self-pay would be for exome sequencing that examines all 23,000 human genes and has the
•• best chance to define a mutation in one ofthe >100 genes implicated in connective tissue dysplasias or
dysautonomia. I will let the family know in a week and we can arrange blood draws on Lucas and
his parents if it is feasible to proceed .
•• PAST MEDICAL IDSTORY: Lucas was a premature baby after a 34-week gestation and had transient
jaundice and hypoglycemia. He was bottle-fed with some early feeding difficulties and there was a question
•• of tears in the cornea at one point. At age 2 months he was removed from parental custody after an arm
fracture and others in multiple stages of healing were found-apparently vitamin D deficiency was also
questioned. His grandmother acquired custody at age 1 year and relates a history of hypotonia with motor
••
delay-he did not walk until age 18 months and he was in ECL However, the delays may have reflected
healing from fractures in that he has done well in school until recently, troubled more by lack of effort than
cognitive concerns according to his grandmother. He had some muscle weakness that needed physical
••
t}:lerapy at age 8-9 years and he has had nonnall~nguage .
His muscle weakness may have reflected limitation from joint pain as he has popping joints and arthralgias,
••
particularly in his shoulders. He has been in a boot twice for stress fractures in his L foot. His most severe
symptoms are likely due to ms with severe stomach issues at ages 4-5 years after GE reflux as a baby. He
has chronic constipation and Dr. Russo performed a normal endoscopy and biopsy. Also potentially related
to dysautonomia are urology issues with need for stents in his ureters and an episode of urosepsis. He also
•• has had significant vision issues with dry eyes and poor vision evaluated at age 6-7 years. He was found to
have vitamin A deficiency and now takes 25,000 units per day, also having other fat-soluble vitamin
deficiencies such as vitamin K that could reflect bowel malabsorption-he is seeing Dr. Hutchinson of
•• endocrinology and Dr. Russo of Gl for these issues. He also has symptoms of POTS with an episode of
severe shortness of breath and saw Dr. Zellers of cardiology with monitoring for arrhythmia that was
apparently negative. He has dizziness on standing, hypotension, enjoyment of salty foods, occasional
•• fatigue and "brain fog," the latter possibly accounting for some school difficulties. He has not had striae or
unusual scars and does not note TMJ pain or popping, obvious scoliosis or pectus. He was told that he has
collapsed arches in his feet.
•• FAMILY IDSTORY: Family history indicates that Lucas has half-brothers Jacob and Matthew, the latter
with early fractures that in 2009 resulted in his father having criminal charges of child abuse with
•• incarceration. Grandmother (mother of the three boys' father), does not have contact with these other
grandchildren, but thinks that Jacob may have bad an arm fracture. Grandmother is a nurse working in
dialysis and has had several symptoms ofEDS-joint pains with flexibility, migraines, menorrhagia, and
••
••
••
•• RE: Lucas Guerrero BD: 9-4-1999
•• endometriosi& ~he has another son in addition to Lucas' father with joint issues and a daughter who has a
••
son, age 9, with flexibility, asthma, and eczema. Otherwise, there are no individuals known to have
developmental disability, birth defects, or early onset cancers on either side of the family .
PHYSICAL EXAMINATION: Lucas was 6-1 and weighted 156lbs with a slender, fit build.
•• HEENT: Normal hair pattern and texture with normal head shape; normal facial appearance with no subtle
anomalies of the eyes, ears, or jaw..
Neck and chest: No webbing or sinuses; mild pectus excavatum
•• Heart: No murmurs--regular rate and rhythm
Back: Mild dextroscoliosis in thoracolumbar region with angle of about 5 degrees .
Extremities: Normal proportions with normal palmar creases. Moderately increased joint laxity with
•• Beighton hypermobility scale of 5-6/9). He has long fingers and the thumb-little finger overlap around
wrist (Walker-Murdoch) and thumb through fist (Hoffman) signs were positive .
· Skin:··so1l'feXfufe"with hyperelifstieity'Slifficientto'give·a·l inch fold on"his·forearm:~"· ·"·"···· -· -···· -· --· • · · - ~-·-" · ·--·
•• Neuro: No focal neurologic deficits. He is very interactive and conversational with obvious normal
intelligence. He has good coordination and balance as judged by tandem walk
•• IMPRESSION: My impression is that Lucas has a moderate form ofEhlers-Danlos syndrome (EDS) type
I with evidence for skeletal, gastrointestinal, and vascular changes. The latter have manifest mainly as
POTS and gastroparesis/irritable bowel syndrome, and I do not see evidence for the Chiari malformation
•• that is more common in EDS. I also cannot exclude a form of Marfan syndrome although he has not yet had
any aortic or cardiac changes, but the type IV EDS syndrome is unlikely since he does not have a pinched
lower face or translucent skin .
•• RECOMMENDATIONS: I attach information on the EDS spectrum and would suggest return to
cardiology if Lucas has more severe POTS symptoms, especially if they interfere with school. Drs. Lee
••
Ann Pearse of pediatric cardiology and Dr. Amer Suleman of adult cardiology are very familiar with
POTS. Otherwise, Lucas should follow the joint protection and nutrition approaches outlined in the
information, and I am inquiring of the GeneDx company what the self-pay costs would be for exome
••
sequencing (list price fo $9000 but often covered or discounted through insurance). I have urged his
grandmother to contact me (email best) with new questions or concerns.
Sine~ y yours
••
Genetics & Metabolism Personalized medicine, prenatal counsel
\ Oysmorphology, birth defects Development delays, mental disability
Prenatal counseling Growth, ob(!sity, ,II.DHD, behav_ior issues
Dallas: Phone 972-566-2500 Plano: Phone 972-312-0440
•• Golder N. Wilson MD, PhD
Certified in Pediatrics & Medical Genetics
Information/questions: Phone: 214-797-0031.
Medical City Hospital Suite B311
7777 Forest Lane
Dallas TX 75230
Miranda Ramirez Pediatrics
3608 Preston Rd, Suite 125
Plano TX 75093
•• Email: TheGgnome@aol.com Fax 972-566-2505 Fax 469-467-9343
More information: www.kinderGgnome.biz
••
cc:
Ralph Martinez Attny Rigoberto, Raquel Guerrero
29000 Woodridge Ste 202 1212 S Hazelwood St
••
Houston TX 77087 Sherman TX 75090
••
••
••
••
•
••
•• Ehlers-Danlos syndrome (EDS) discussion-Or. Wilson
What is EDS? Ehlers and Danlos were dermatologists who in the early 1900s descnbed a syndrome (pattern) caused by lax
•• connective tissue highlighted by patients with hyperelastic skin. In 1977, Dr. Peter Beighton organized intervening literature by
postulating 7 EDS types, with type I involving skeletal problems plus extended complications of the bowel and circulatory system,
type II showing mainly hypermobility, type III having hypermobility with many stretch marks, and type IV with tight lower facies,
•• thin aged skin, and lethal vessel ruptures. Types V-VII are more localized and rare, affecting gums or producing odd skin lesions .
Type IV was erroneously called the "vascular" type even though all forms ofEDS can have flexible and fragile blood vessels. Many
physicians and geneticists continue to view EDS as a group of rare specific types, but my experience teaches that hypermobility
•• disorders and EDS comprise a spectrum that is as common as diabetes. Most individuals have only hypermobility, a trait that they
take for granted and become aware of only when they have frequent sprains or wear-and-tear arthritis. Others have more severe
symptoms that can be disabling but not life-threatening, and the clinical diagnosis ofEDS emphasizes that patients have a true
•• condition and that their anxiety, fatigue, and chronic pain are real symptoms rather than "in their minds" or branding them as
hypochondriacs. The Inspire website (https://www.inspire.com/groups/ehlers-danlos-national-foundationl) is an excellent and patient-
oriented source of information.
•• Rarer, extreme'forms·'ofEDS-reflect single gencf(autosoin'al dominant)inheritante:-The severe types ofEDS along with other
members of the connective tissue dysplasia category like Marfan syndrome (exemplified by an Abe Lincoln build) or osteogenesis
--
••
imperfecta (OI or brittle bone disease) exhibit autosomal dominant inheritance, meaning that affected individuals have one normal and
one abnormal gene. The abnormal gene dominates to cause connective tissue laxity-both genes make protein with the abnormal gene
making a deformed protein that interacts with the normal protein like bricks in a wall. The deformed brick (protein) makes the wall
wobbly and weak, translating to weaker and flexible skin, joints, and blood vessel walls. Severe forms ofEDS and related conditions
•• can be diagnosed by targeted DNA testing-fibrillin gene testing for those with obvious Marfan syndrome, collagen type ill testing
for those with obvious EDS type IV. collagen I testing for those with obvious 01.
•• Most EDS cases are cause by multiple genes and comprise a spectrum: Most patients with EDS exhibit overlapping symptoms of
joint popping/dislocation/injury with later arthritis, soft and elastic skin with unusual scars and bruising, migraines, heavy periods with
endometriosis, and dysautonomia (altered function of the autonomic nervous system) with irritable bowel syndrome (IBS) and
•• paroxysmal orthostatic tachycardia syndrome (POTS). In EDS, POTS is due to pooling of blood in lower extremities when standing
with dizziness, fainting, fatigue, and "brain fog" (intervals of decreased focus and memory). Diagnosis ofEDS among many causes of
dysautonomia allows therapy by increasing intravascular volume with hydration and salt to increase brain perfusion. Patients with
•• broader symptoms are likely to have multiple gene changes compatible with multifactorial causation.
EDS remains a clinical diagnosis: As of now the diagnosis ofEDS is clinical in most cases, meaning documentation of typical
•• histories and physical findings (tall stature, lean build, hypermobility, skin elasticity). Patients can be grouped as hypermobile EDS
(REDS) or classical (CEDS with broad symptoms) but this is greatly oversimplified, as are the 7 types described by Beighton. I tend
to group patients with only skeletal symptoms as type II or ill (with associated stretch marks/scarring) and those with broader
••
symptoms as type I. Since over 40 genes have been implicated in EDS, we can anticipate over 40 types with overlapping symptoms
when DNA testing of multiple genes becomes routine. At present the clinical diagnosis of connective tissue dysplasia or EDS
spectrum disorder is reasonable since it will guide patients and physicians to anticipate a broad range of medical complications and
••
refute assumptions about mental illness or hypochondriasis .. The many possible gene changes make single gene (DNA) testing oflow
yield except in cases with obvious Marfan or EDS IV.
••
Gene testing for EDS: Three levels of gene (DNA) testing include I) testing for Marfan and related Loeys-Dietz syndromes through
LabCorp (-$1600 and usually covered by insurance), 2) a 12-gene panel including Marfan, EDS type IV, and other rare forms ($3600
with guaranteed maximal $100 self-pay over insurance through the GeneDx company), and 3) exome sequencing examining the exons
(protein-coding regions)ofall23,000 genes in our genome (rapid parallel/(NextGen sequencing of parent-child trios for $9000
•• through GeneDx with guaranteed max of$1000 self-pay over insurance). For the latter test, I can send insurance information to
GeneDx to ascertain each family's self-pay amount which sometimes is much less than $1000. Sadly, most genetic testing is not
covered by Medicaid or Medicare. Even a positive gene test may not lead to different therapy or management.
•• EDS therapies: Arthritis is due to joint hypermobility with wear-and-tear injury (osteoarthritis), not from inflammation like
rheumatoid arthritis or that due to lupus and other rheumatic diseases. Thus therapy is preventive with common sense
•• recommendations for joint protection, favoring activities like swimming and avoiding those like long distance running, gymnastics,
etc. Patients should remain active with moderate weight-lifting and other reasonable activities to build muscles aronnd the joints,
preventing cycles of inactivity with increasing joint stiffuess and pain that present as chronic fatigue syndrome or fibromyalgia. The
•• RICE (Rest, Ice, Compression, Elevation) approach to injury can minimize ongoing joint damage, and susceptibility to injury plus
slow healing should prompt early orthopedic evaluation to exclude tears and fractures. POTS benefits from hydration (8 glasses fluid
per day), salt in the absence ofhypertension, and vitamins (C--2g per day, D >1000 units per day, Bl2-2.5 mg per day, daily
•• multivitamin and mineral preparation). ms can be helped by avoiding fluids before meals with small feeds and, for some, low gluten.
•
•• Jt".-31-2013 WED 05:35AM
I
Rece lued:
rAX NU.
May 22 2013 05:33Pm
r. uc:.
•• MF 22-2013 WED 05:17PM FAX NO. ?. 02
•• PHYSICIAN REFERRAL
•• NOTE: Application cannot be processed without physician referral
A TIENTION: Referring Physician -the following is REQUIRED data:
1) Child's Nama and Dilte of Birth
•• 2) SgctiQLl.A and/or Section B completed in its ENTIRETY for determination of child's eligibility
3) Phvsician Signature, Date, Medical License Number, and Demographics
•• If you have any questions regarding the referral an~/or services that TSRHC provides, please contact the Pa1ient
Access RN at (214) 559~7559 or 1 {800) 595-7604 .
Gl1~ {{~J() -~ uf? bet"\
•• Child's name
Last
1
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First Middle (SUfflk)
Dat13 of birth CPL l
Mo
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Day
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Yr
qCfCj
•
Section A- REQUEST FOR ORTHOPEDIC/MUSCULOSKELETAL
, EVALUATION (completed by MD)
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MEDICAL WCENSl: # /,'?-1_ i-f::;--
•• PtiYSICIAN'S ADDRESS-...,,..,..-----------------------;:::--::--::-----
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•• NOTE: The enclosed Educational Background form MUST be ccmplered for application to be processed.
·Grade level School name School d i s t r i c t - - - - - - -
•• Special Education Placement? Cl No 0 Yes
Purpose of referraL-----------~-~--------------
•• Describe leamlng prcblem(s)l_ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _- - - : - - - - - - -
••
Has previous testing been clone? CJ No 0 Yes (if yes, note date, place of testing and attach records)
•• MED~20 REV 4/2008 Page 4 of 4 Application
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•
••• Ju1. 29. 2013 9: 21 AM HUo liVL • • .,
••
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:.••
•• Guerrero, Lucas Rueben (MR.# 1031 083)
••,.•• 'VITAMIN D 25 'HYDROXY .
.:-~8-&utte
Reautt Nbtes
·.:: :.
· Status: Ftrilf ':'ftUit . : . . .'
· ·.. . :ei212013 7:3~ PM·
..·..·,' .·... ·:·...
'.••
. .· . . ·,..
·,
"". .':
•• Notes Recorded by Michele R. J.futchlson, MD on 51712013 at 2:43 PM
Donna,
· · -Now thatlu~:;as• tabs are baCk, looks like we need to rrtike .some ohanges: 1-
•• ,. VItamin A Is good. no change to that dose.
2. Vitamin 0 could .stand to be lncteased, He is taking 4000 units/day - of mom has the 2000 unit c;apsules,
,.
••
a
then she should Increase to capsules a day (6000 units/day). i
3. VItamin K -Not SIJre why this one is so much higher than usual. He takes 1/4 tab 3 times a week. Reduce .
the trequeney to twice a ~k.
1,
••
4. VItamin E - This is the one we were COflfused about I think you determined that he Is laking 400 units 5
daya a week. His levei was tow, so we need to Increase the dose. I don't think 400 7 day~ a week will do It- I 1
would give him two capsules 6 days a week. ·
•• Because we are changing so many of the e20sages, I would feel better if we repeated the labs In 6-8 week.9 .
(Don't need to repeat the Vlt A, a& that W8$ normal.)
Thanks
•• MH
•• Guerrero, Lucas ltueben (.MR # 1031083)
•• V.ITAMIN D.26 HYDROXY ·.
Resuite
.. . · · ·· ·.·. ...
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••
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Result Notes
Notee Recorded by Mlchllo lt. Hutchison, MD on 7/1312013 at 4:03PM
••
lucae is our young man wilh the fat-soluble vitamin deficiencies. Please let mom (GM) know abOut the
results: .I
The Vlt 0 level is perfect, no change to dose. I
•• Th~ Vit E level is good • no change to aose.
The Vlt A IG\Iel was not done for 80me reason. However, aU or his previous levels have been normal on the
current dose, ao I think we are OK there. ·
•• The Vit K Is just a bit high, at~gh much better than at lhe fast check. 1would like to leave the dose Where tt
is ror now, and If It Is stul slightly hiUh at the neld check we \VHI decrease It a bll
Thanks
•• MH
•·•
••
••
• 20 'd 'ON Xl/3 Wd 0£:90 NOW £102-62-lOf
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Interpretation
Alpba Tp.eopherol
0.00. 0.10 mglllfet
5.5 -18.0'.mglllter
0.04
Normal
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•
•••
Gamma ToeopheroJ
Vitamin K
Vl1 D, 2S·H~droMy
0.0 ~6.0 mgnltar
20 • 80 nanoghtin/ml ~
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• 07-28-'15 14:15 FROM- Dav!~~ Denison 9034636830 ,.----...... T-514 P0002/0012 F-952
~
Pediatric Genetics
July 25, 2015
Dr. Malgorzata Gajda
Hillt0p Pediatrics
300 N Highland Ave Suite 542
Sherman, TX 75092
RE: Lucas Guerrero BD: 9-4-1999
Dear Dr. Gajda:
I had seen Lucas Guerrero on March 17, 2014 and felt that Lucas has a moderate fonn ofEhlers~Danlos
syndrome (EDS) type I characterized by tall stature, hypennobility, ruthralgia, and some symptoms of
•• postural mthostatic tachycardia syndmme (POTS}-I now refer to this spectrum as articulo-autonomic
dysplasia-EDS (AAD-EDS, see attachment and below). I was able to obtain whole exome sequencing
(WES) that examines all 23,000 genes and I now attach results of this testing that show a mutation
•• affecting the mitochondrial MT-COl gene that encodes one of many proteins that constitute a subunit of
cytochrome C oxidase, also known as Complex IV. The mutation changes the amino acid threonine (T)
••
to methionine: (M) at position 31 of the MT-CO 1 protein (p. T31 M), and is present in 40% of Lucas'
mitochondria (he thus has mixtures ofmutant and normal mitochondria in his cells, something called
heteroplasmy). This mut..1.tion was present in Lucas' mother at a lower level ofheteroplasmy. and has not
•• been observed in DNA databases from nonnal individuals-it is thus is not a common benign variation .
The report classifies it as a variant of unk11own significance. but I have now seen at least 6 patients with
EDs-dysautonomia symptoms that have mitochondrial mutations, and the essential role of mitochondrial
•• complexlY in energy metabolism, particularly important in the brain, l1eart, nerve, and muscle, leads me
to suspect that such mitochondrial mutations a1·e a cause of AAD-EDS symptoms.
•• It is likely that Lucas' half-brothers, at least one having early fractures that can occur with AAD-EDS,
have the same mitochondrial mutation from their mother since women pass on the mitochondria to all
•• children. We cannot predict the fraction of their mutant mitochondria compared to the 40% in Lucas .
Supporting the relevance ofthe mitochondrial MT-COl mutation to'AAD-EDS symptoms is the fact
that the matemal grandmother has some of these symptoms, likely havil1g the same MT-C01 mutation
•• and passing it on to her daughter. Relatives could have testing for the particular MT-COI mutation at a
cost of $350 each, and this could be coordinated by Ms. Alderd1ce of the GeneDx company.
•• These results do exclude severe forms·of cmmective tissue dysplasia such as Marfau syndrome, Ehlers-·
Danlos: syndrome type IV, or osteogenesis imperfecta since those genes were well-covered by the exome
•• technology. The results also excluded mutations in 56 genes such as the breast-ovarian cancer/BRCA
genes, tenned incidental findings because they may not be related to the indication for testing. The latter
genes were screened in Lucas but not in his mother since only mutations found in his mother would be
•• examined in her relatives .
I would emphasize that the there could be additional gene mutations contributihg to AAD.:.EDS
•• symptoms in Lucas and his half. brothers that were not recognized by-this new WES teclmology. If
••
•
• 07-28-'15 14:15 FROM- Davi~a Denison 9034636830
RE: Lucas GuetTero BD: 9-4-1999
T-514 P0003/0012 F-952
several genes interact to cause the AAD-EDS symptoms, then the software will not recognize a change
in any one of them as pathogenic. There are also many human genes that do not have known functions
and/or have not been correlated with human disease~·-mutations in these genes may not be called as
disease. related by the computer software that examines the over 600 million DNA nucleotides (AGCT
letters) documented by whole exome sequencing. Finally, although most genes are covered from 90 to
97% of their length by the sequencing, some gene regions are not examined and thus mutations can be
missed. Because WES is a recent advance, additional studies on patients with connective tissue laxity
are certain to uncover more genes related to this disease spectnun. That 1s why GeneDx keeps a
database of new gene discoveries, updating prior patient repm1s if they have such mutations. The
company also offers to reanalyze the sequencing results every 3.4 years so that new gene discoveries
can be incorporated into the computer software.
I would still consider Lucas to have a diagnosis ofEDS-dysautonomia, now better described as AAD-
EDS because my genetic data is showing that any part of the joint (articulation)--skin, nerve, muscle,
bone, joint tissue, blood vessel~~can be impacted to cause the same pattem of symptoms (see
attachment). His clinical profile would fit with EDS type I or classic type since his hype1mobility is not
!. as dramatic as with EDS type III, although the types are being outdated by the new sequencing results.
Most importat1t is for Lucas and by implicatio11 his half:.brothers to follow joint protection and 11utrition
•: strategies in the attaclm1ent. I am also attaching general infom1ation on mitochondrial diseases, with
supplements that can help and medications to avoid. We do not know for sure tl1at Lucas has significant
mitochondrial dysfunction, but the supplements are hannless vitamins and can be tried without concern
for side effects.
:• I would be happy to see the family in follow-up if they would like to discuss these results, and would
urge them as before to contact me (email best) with new questions or concems .
•• sm-t~~
Genetics & Metabolism
Dysmorphology, birth defects
Prenatal tounselihg
- Personalized medicine, prenatal coun5el
Development delays, mental disability
Growth, obesity, ADHD, behavior Issues
•
••
GolderN. Wilson MD, PhD
Certified in Pediatrics & Medical Genetics
Email: TheGgnome@aol.com
Medical City Hospital Suite B311
7777 Forest Lane
Dallas TX 75230
Phone 972-566-2500 Fax 972-566-2505
•
More information: www. kinderGgnome.biz
cc:
Ralph Martinez Ath1y Rigobe:tto, Raquel Guerrero
~
••
29000 Woodridge Ste 202 1212 S Hazelwood St
Houstoq TX 77087 Sherman TX 75090
••
••
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••
• 07-28-'15 14:16 FROM- Dav_d:.a
'#
I
. \
Den i son
I
9034636830
http://www.umdf.org/site/c.8qKOJOMvF7LUG/b.7934627/k.3711/\Nhat_is_Mitochondriai_Disease;h
T-514 P0004/0012 F-952
tmAvoidance of Toxins
Alcohol & Cigarettes
Alcohol has been known to hasten the progression of some mitochondrial disorders. Cigarette smoke, probably due to
the carbon monoxide, is known to hasten the progression of some conditions. Remember that carbon monoxide kills
by inhibiting complex IV of OXPHOS, why make it worse? Cigarette smoke will make it worse.
MSG
MSG (monosodium glutamate) has for years been known to cause migraine headaches in otherwise healthy
individuals, and may trigger these events in susceptible people with mitochondrial disease. MSG is frequently added
to Chinese (and other Asian) foods, and is also found in high levels of dried and canned soup. Read the label and
avoid MSG if there is any sensitivity.
"'Back to Top*
Vitamins and Cofactors
Vitamins and cofactors are compounds that are required in order for the chemical reactions, which make energy, to run
efficiently. By definition, a cofactor can be made by the body, whereas a vitamin cannot, and therefore must be eaten.
For most people, a regular diet contains aU the vitamins one could possibly need and their bodies can make as much
of any specific cofactor that it needs. For those with mitochondrial disorders, added vitamins and cofactors may be
useful. ·
The use of supplemental vitamins and cofactors is largely unproven and their use is therefore controversial in patients
with mitochondrial diseases. For disorders of OXPHOS, coenzyme 010 is considered as a generally accepted
:
effective therapy, although it may not ultimately be effective for an individual patient. Other treatments may be effective
in one disorder but not in others. Because of the varied nature of mitochondrial diseases some therapies may be
helpful in many, but not in all patients and therefore cannot be considered as ''proven and effective." Some treatments
should only be undertaken under the specific guidance of your physician. For specific information about the
•'•
controversy, as it relates to your or your child's situation, ask your physician. Most of these vitamins can be purchased
fror.n many sources, including the drugstore .
These supplemental compounds can serve two functions:
••
• possibly enhance enzyme function and result in improved efficiency of energy generation
• serve as antioxidants, which may slow the progression of the disease
*Back to Top*
••• Vitamins and Supplements That May be HetpfulfT (P.Thr31Met \Approximately jVanantof 1
j ((C5995T) ((T31M) ~40% iunknown \
•••
l : j ; !significance i
:.........,.,.,.,_.,..,,.,..,.,_.._., .......,....... ,,,~\.··\.\."'"""'""'""""l""""""""' ....... """'·'''·'-"''-'•'"'"""'"'""'"'""""""=",....."'"'"""'""'""~~"""""".,.."...._""....,'"""""'"""(""""'""""'"·'"'"~'"""""'"'"'"'"""""'"""'""'""~"~"''-"'""'"'"'""""...._'"''"""'"'"""'""'!'f•1 ,,.,..,.~
A definitive mitochondrial DNA mutation was not identified. Subsequent testing L)f this
individual's mother (GcneDx# 1437389) by Sanger sequencing found that she harbors the
m.5995 C>T variant of unknown significance in the MT-COl gene at a level of
•• heteroplasmy that appears to be lower than that found in her child .
This individual's haplogroup and a table of observed polymorphisms are also provided.* The
•• observed polymorphisms have not been reported to be associated with a disorder of
mitochondrial metabolism when present in association with this individual's specific
haplogroup .
•• 1nterpretation; A variant of unknown significance has been identified in the MT-COl gene. The m.5995
C>T variant has not been reported in Mitomap (www.mitomap.org) as a n'lutation or a benign
••
polymorphism, and it has not been reported in the general population [0 of 2704 individuals
in mtDB www.genpat.uu.se/mtDB); 0 of 3735 individuals in MitoWheel
(http://mitowheel.org/mitowheel.html); 0 of 6391 individuals in GeneDx mtDNA variant
••
database]. The p.T31M variant is a non-conservative amino acid substitution, which is likely
to impact secondary protein structure as these residues differ in polarity and size. This
substituti"m occw·s at a position where amino acids with similar prope1ties as Threonine are
•••
conserved across species. In silico analysis is inconsistent in its predictions as to whether
or not the variant is damaging to the protein structure/function. Therefore, based on the
currently available information it is unclear whether this variant is a disease-causing
••
mutation or a rare benign variant.
If this individual's mother does not have symptoms of a mitochondria] disorder or has less
•• severe symptoms than that of her child, the presence of the m.5995 C>T variant at an
~4.pparently lower level of heteroplasmy than her child supports this variant being a
pathogenic mutati.on. If the mother has similar symptoms as her child, no further
•• Recommendation:
interpretation is possible .
Clinical correlation and genetic counseling is recommended .
•• GeneDx • 207I'orry Parkway • Gailhersbure, MO 20877 . Tel (30l) Slll·2100 - Fax {301) 519-2892 · www.grnedx.com • l'age 1 of 2
••
,.•
~·
07-28-'15 14:18 FROM- Dav:~~
' \
Denison 9034838830 T-514 P0007/0012 F-952
•• Genetic Testing Report
•• Patient. Name:
Date of Birth:
GUERRERO, Lucas
9/4/199~
GeneDx Accession No:
Date Specimen Obtained:
1436501
8!20/2014
••
Specimen Type: Blood in EDTA Date Specimen Received: 8/2U2014
Submitters ID No: None Date Test(s) Stat·ted: 8/28/2014
Ot·dered By: Dr. Golder Wilson Date ~f Repot·t: 11/25/2014
•• Methods: The entire mitochondrial genome from the submitted sample was amplified and sequenced
using a solid state sequencing by-synthesis process. DNA sequence was assembled and
•• analyzed in compm·is.on with the revised Cambridge Reference Sequence (1"CRS) and the
reported mutations and polymorphisms listed in the MlTOMAP database
(http://www.mitomap.org). The presence of a disease associated sequence variant, if
•• present, is confirmed by conventional dideoxy sequence analysis or other methods. A
reference library of more than6000 samples from different ethnic groups and online
databases for mtDNA va.riations is used to evaluate variants of unknown clinical
•• signit1cance. In some cases, additional testing may be recommended to elucidate
pathogenicity. For mtDNA deletions, levels of heteroplasmy of 15% or lower may not be
detected and for mtDNA point mutations, novel mutations with a heteroplasmy of lower
•• than 5% may not be detected by Next-Generation sequencing .
Reportable variants of potential pathogenicity were evaluated in the maternal sample by
•• PCR-amplit1cation of the relevant portion(s) of the mitochondrial genome from genomic
DNA. Bidirectional sequence was obtained and DNA sequence was analyzed and compared
to the published gene sequence. The methods used by GeneDx are expected to be greater
•• than 99% sensitive in detecting mutations identifiable by sequencing. Levels of mutant
heteroplasmy 25% or lower may not be detected, and levels of mutant heteroplasmy 75% or
higher may appear to be homoplasmic by Sanger sequencing .
••
••
••
••
•• Report electronically signed by:
Renkui Bai M.D., Ph.D., FACMG
Report electronically signed by:
Ed~n Haverfield Ph.D., FACMG
•• Director, Genetic Testing for Mitochondrial Disorders
~X~IDNA RdSeq: NC_Ol2920.1
Director, Whole Exome Sequencillg Program
:
;r;,;~;;;~~I;;'~di;;eill;~-;-;;;;~;~~~~;r(;;.~ci";~;n:To;t;;;p,;~;;;;;,;r-;dei.tiryi~gq;;-:ility d~r~~w(irt"~.;;;i~&'P-;;i;i;tio;s:;;;iii;~;;i;~'d~~~7,~-
well ~s large sinele dt:l~lions) in mtDNA. For mtOI'lA deletions. this test will detect almost all disea5e-associated h~l2raplasmy n>ported to date (Bm1let ei al., 1992 Am J
Hum Genet 51 :1187-1200; Sciacco et aL, 1994 Hum Mal Geoet3: 13-19); levels of heteroplasrny ot· 15% or lower may not be detected and the standard deviatil)n for
heteroplasmy of large dele.tions is estimated to be 5%. Far mtDNA point mutat..ion~, novel mutations wilh a hettrophsmy of lower than 5% may not be detected. Nortnol
findings do not rule out th~ diagnosi> of a nlitocl\cmdrial disordt:r. The dinical implicati01ls of some variaticms may be u>1lnown atlhe lime of lhi~ report. Thi~ test is used
fm Clinic~! puq>oses, 1\ has not been cleared or approved by the FDA. The FDA has determined that •uch cleat:ll\C-' or approv~l i~ notn•c~ssary, Pun;uanl to the.
.
:e_'l_ui_r_e".'e.!IIS .~f _q,r_A. _:~ ~, _th~~-~-~~()ra_lo_r~ _h_a_s. ~.s!a.~.l \S~~~..~~1~.Y.~.r.\ ~!~~. \~!:. ~~.t:. ~ ~~~~=-~~r, .~!' ~ _P,~~i_si ~~:.<:;.'::~~-_I'[)_~;.~-~ 1:)0.9.~_99.?..1. :.MI?. .'-:! ~~-1)~~:..9.~:3: ......... _., .. ,... ,,., .... ,_........ _
Gent OX • ~01 l'~rry l'arkway - Gaithersburg, MD 10577 - Tel (301) 519-2100 · Fax (30J.) Sl.9·Z!l9~ • W>"'W.gtncdx.com - Page 2 of 2
•• 07-28-'15 14:16 FROM- Davit.9- Denison 9034636830 T-514 P0008/0012 F-952
••
•• Genetic Testing Report
•• Patient Name: GUERRERO, Lucas GeneD:x Accession No: 143M;ol
Sub!JliUers ID No: None Pr_o=-:v:..::id:::e:::d:::_____________ ------=D~a0;..;:teo:....::.of::....::.:R::::e..o::po.::.r::.;t~:•.: 0.: .9: . :/l=-=8.:. :/2: .;0:.: 1'--'-4· _ _ _ _ __
•• •MII)NA Polymorpllisms
.I••
Nucleotide Pooitlon Func!S(lllal Loc:ltion Nucleotiole Change Codoll Ch:mge An'lino Acid Ch:ongt. :Frequ~.:nc:y (Gen. Pop)
146 MT·DLOOP. T::-C 899/5453
263 MT-DLOOP A,.G 5371/5453
315 MT-DLOOP 315dupC common
!!860 MT·ATf'6 mANA A>G ACA-,.GCA Ti12A 6370/63..'}1
1: 15326
16291
MT-CYB mANA
M~:DLOOP
A>G
C>T
ACAo.GCA
'""
T194A
'"
631216391
118/5453
••
Haplogroup (liG): Wai.b
••
••
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••
••
••
••
••
••
••
•• -----------~---~~~~~~~-~~---~~~:~~~-~~~~~.-------------
Geii~Dx 2(f1 Perry Parkway Gaithersburg, MD 20877 Thl (301) 519-2100 Fax (30l) 519-2892 WW».genedJ<.com
••
•• 07-28-'15 14:17 FROM- Dav:""-3. Denison 9034838830 T-514 P0009/0012 F-952
••
•• Genetic Testing Report
•• Patient Name:
Date of Bi£1h:
Specimen Type:
GUERRERO, Lucas
9/4/1999
Blood in EDTA
GeneDx Accession No:
Date Specimen Obtained:
Date Specimen Received:
1436501
8/20/2014
8/2112014
•• Submitters ID No: None Date Test(s) Started: 8/28/2014
.?..~.~.~~~~-:O,r.:........................~r.:. ~~~~~~:. ~~~~-~.............................................1?.~·~-~-r. ~~.P.?.r.~:: .......................•Y~S.!2.0.~.~....................................... .
• •I
Test(s) Requened:
Clin.icallru:lication:
Diagnostic Testing 1XomeDxPJus I Whole Exome Sequence Analysis
Male with a history of tall stature, joint laxity, and irritable bowel syndrome. The family history is significant
•• for fractures. A differential diagnosis of Ehlcrs-Danlos syndrome was given .
A sample from this individual's mother (GeneDx# 1437389) was also submitted for variant segregation
••
analysis by whole exome sequencing .
Intt!rpretllti.on: I. Causative Mutations in Disea~>e Genes Associated with Repo1·ted Phenotype:
None identified .
•• 2. Variants in Disease Genes Possibly Associated with Reported Phenotype:
None identified.
•• ACMG Inddellta.l Findings:
None identified
•• The results of the miwchondrial genome sequencing and deletion analysis are provided in the
attached report.
•• Whole _exome sequencing did 110t identify any definitive mutations or variants that relate to this patient's
reported phenotype_
•• A medical provider can request an annual reanalysis of the exorne data generated with the XomeDx test.
The current data can be reassessed for the presence of any variants that may be newly linked to this
individual's phenotype since the date of this report.
•• Additional Analysis
Comments:
Analysis of XomeDx for the proband includes evaluation of variants that are identified to be de novo
(when both parents submitted), compound heterozygous (when both parents submitted), homozygous,
hetemzygous and X·linked recessive in addition to rt.levant analysis based on the family structure and
•• reported phenotype. (n view of the phenotype information provided, analysis in this case specifically
included review of variants in genes associatr.d with tall stature, connective tissue abnormality, muscle
weakness, hypotonia, joint hyper mobility, joint laxity, recurrent fractures, scoliosis, ortnostatic tachycardia,
•• dysautonomia, delayed gross motor development, arthralgia, pectus excavatum, gastroparesis,
gastrointestinal reflux, ureter abnormality, hyperextensible skin, soft skin, neonatal jaundice, vision
abnormality, constipation, fatigue, hypotension, neonatal hypoglycemia, vitamin D deficie11cy, vitamin K
••
deficiency, feeding difficulties, and prema~ure birth .
The following genes associated with Ehlers-Danlos syndrome were specifically reviewed, with the
percentage of the coding region covered at >lOX indicated in parentheses: COLlAl (98.7%), COLIA2
•• (99.9% ), COL3Al (95.5%), COL5Al (98.0%), COLSA2 (99.1%). No pathogenic sequence changes
were identified in the coding regiollS of these genes covered by the XomcDx test
••
•• Genel)x 207 Perry Parkway G3ithersbm·l?,, MD 20877 Td (301) !il9·210~ l.~·--~-?1_~~·~ ~il.5.0.11 ....... - ................. ----- --- -- -~~-t~-~~ ~-e.~o.~_t;_ _ _ ---------. Jt.(Z.~J~~-1.~.......... ................ .
ACMG Incidental No reportable incidental findings were identified in coding regions covered by the XomoDx lest for 56
Filldings: ge1\es recommended to be reported by the AcMG (Green eL al.., 2013). See Appendix 1 for the list of 56
genes.
Limitations Regarding Incidental Findings:
Known or expected pathogenic variants in the 56 genes recommended by the ACMC are reported for the
proband (see Appendix 1 for this list of genes (Green et al., 2013)). The presence or absence of the
proband's identified incidental fmdings is available only for relatives who underwent whole exome
sequencing as part of the proband's test. Variants that may be present in a relative, but are not pre.~ent in
the proband, would not be detected and therefore are not reponed. Known or expected pathogenic
variants may be present in a ponlon of the gene not covered by this te.st and therefore would not be
detected. The absence of repmtable incidental findings for any particular gene does not mean there are no
known or expected pathogenic variants in that gene, or other variants that may confer susceptibility to the
disord~rs listed.
Recommendation.- It is possible that this patient has a pathogenic mutation outside of the coding regions analyzed, or in a
regulatory or deep intronic region that would not be detected by whole exorne sequencing. Additjonal
genetic testing, which may be able to determine the presence of any other paU1ogenlc mutations, could be
considered. Genetic counsoling is recommended to discuss the implications of this report.
Methods.- Using genomic DNA from the submitt.cd spccimen(s), the Agilent SurcSelcct XT2 All Exon V4 kit was
used to target the exon regions of the genome(s). These targeted regions were sequenced using the
Illumina HiSeq 2000 SC4uencing system with 100bp paired-end reads. The DNA sequence was mapped to
and analyzed in comparison with the published human genome build UCSC hgl9 reference sequence. The
targeted coding exons and splice junctions of the known protein-coding RefSeq genes wen: assessed for
the average depth of coverage and data quality threshold values*_ The Xomc.Analyzer was used to
evaluate sequence changes in this individual compared to other sequenced family members. All reported
sequence variants in the proband and relative samples (if submitted for variant segregation 31lalysis by
whole ex~>mc sequencing) wac confirmed by conventional di-deoxy DNA sequence analysis or other
appropriate method.
*Quality Metrics
!Mean Depth of Coverage 1 107x
Quality threshold2 9!!.3%
Tht: abovt' \.'aruru· u:prc11nl mt!frir:s from thi!i Xom~D_~ ~valJ.talion. 1M.:an tlr1pth of c.cvr:raec r,:fus lo Jlu .S!!!qu..;:nc~ m~...an read depth .a(;'C:SJ I}U! Xum~D.x
targgcc~cJ tegiun. kfined c.l.l' r:otling t:.rons cmd spUc;e.juncliom of AgiltJnl Sur~Sdt!cl XTL All Ex.on VtJ ~~targeted prort!in cadi718 RttJS~q gan~s. 2 11,~
quality thu_shold r~f~r.s co Lhi! pr:::rcl!JT.tae~ Dj the. XomttD.r. tkfiru:d to.rgei ,-~gion. wh~t~ read di!pth. wa.s a.l ~.:c.s( JO:x t;o.-etag,; (Q perm if },;gh quality o..Orn8
votianl b.tu~ calJin.e~ amwta.lifJn and t!1tahmtion. Av~ragtt quality th~shalds may ran.gl!.jrom >90·95% of lh~ XomaO.,. (l)riefed reg(on, ilKliCMi~&g u .YmaU
porlion Q{ tlw rwg c~vued wl/1•-1ufficiIiry to confldetllly call varicmr po>ilitfll.s.
GeueD:<~ Gallbersburs, MD 2!l8?? Tel (301) 519-2100 Fax (301) 519-2892
l'age 2 or 3
• 07-28-'15 14:17 FROM- Davita
., Denison 9034636830 T-514 P0011/0012 F-952
Genetic Testing Report
Patient Name: GUERRERO, Lucas GeneDx Accession No: 1436501
Date of Birth: 9/4/1999 Date Specimen Obtained: 8/20/2014
Specimen 'l'ype: Blood in EDTA Date Specimen Received: 8/21!2014
Submitters ID No: None Date 'l'est(s) St."trted: 8/28/2014
Ordered :Sy: Dl·. Golder Wilson Date or Report: ll/25/2014
Limiran'ons: Absence or a definitive disease causing mutation identified with the XomeDx test does not eJ\clude the
possibility of a genetic basis fur the genetic disorder in the pJOband. Some types of genetic abnormalities
may not be detectable with the technologies peifonned with the XomcDx test. It is possible that the
genomic region whcrc a disease causing mutation exists in the proband w~ not captured using the current
technologies and therefore was not detected. Additionally, it is possible that a particular genetic
abnormality may not be recognized as the underlying cause of the genetic disorder due to incomplete
scientific knowledge about the function of all genes in the human genome. Only variations in genes
associated with the medical condition, or thought to potentially be clinically relevant to the proband's
medical condition are reported here. The clinical implications of some variations may not be known at the
time of this :report
••'
:••
~••
••
•• Reporl electronically signed by:
Krislin Monaghan Ph.D., FACMG
Report electronically signed by:
Eden Haverfield Ph.D., FACMG
••
Assistant Director, Whole Exome Sequencing Program Director, Whole Exome Sequencing Program
References: Green et aL (2.013) Genet Med l.S:S6S-s14
;;;;;; ~;~~~-~~~~- d~;~;·~p~d -~;;d-;;~- ~-~~r~;;;;~~~~ .i~;~~i;.;~:.i t;; ·c;~~~o-~ i;;; ·t;;~ ~~i~- ~~~~~-~-~r- iiie;tirri; g- ~.;;; ~ii ·;.~;j~-~~~~-~-~~;-~~;~- ;~- i-h~ ·;~-~;;~~ ~~~;~~~--;~;~d:·11;i~ ·;~~;- ;;;;;: ·--
••
not detect !atge chromosomal aberrations, such as larger deletions and duplicatiOJls (Jarger than 20bp) or remangements. Ncmnal findings do not (ule aut the diagnosis of
any disa(der sine~ ~arne genetic abnormalities may be undetocl.llble with this away. The Agilenl SmrSr.lect XT2v4 kit does not target all coding exons af all knaW)I "RefSeq
genes; th" genomic coordinates of tho regions not covered are available em re'luest. 11ti> te•t should be used for clirticalputp()SU. 11 has not been clear.,(] or approved by the
I'D A. The FDA has detemoi11ed that such clear~nce ar ~pproval i~ not neces&~ry. Pu~.?.~-~-~~-~-=-~-~:!~~.'!.s~.=..~.s~-·------------------------------------·······-------------------···--·····--·······----- ............................................................... .
GeneDx 21YJ l'"UY l'llrkway C~itbersburg, MD 20877
l'aee 3 on
Ttl (301) 519-2100 Fax (301) 519-259.2 www.cenedx.com
••
•
• 07-28-'15 14:17 FROM- Dav :-~a Den i son 9034636830 T-514 P0012/0012 F-952
Appendix 1. 56 Genes Reviewed for Incidental Findings (G..-cen ct al.. 2013):
Gme Di~etln Modt 6f lnl,..'itarl(e MIM-Gf.no
ACTA2 Marf:11> Syndroroo; l.ooys-Dietz Syndromo3; TAAD Auto::-oJlla1l)Qmino:tnl 102620
ACTCJ Hypcttrophi< <3l'diC>rnyopathy; Oiht•d (.m!iomyopathy AutO£Ofna\ Dcrni(•Ml 102540
APC F«milial ad~nomato\\3 polYPosis Aulo>-;>rn~l Domin;ont 611731
APOB Familia! hypereholestorolornia A\1\osomal Dominant 107730
BRCAI H~r.dit~ l:!reast ood Ovarian Cancer Aulo!X>rnl Domin;mt 113705
BR.CA.l Horeditlll)' B.,..,.-t >Od Ovsri.n Cancer Aulosorual Dofi,in:11>l 600185
CACNA!S Malignaot hyperthent~ia ~usonilial hyperd,ol•st..>olornia Autosomal Dominant 606945
LMNA Hyp~rtrophic cardiomyopathy; DilatOrual Domirl"'lt 160781
MYL3 .HyP"rirophic cardiomyopathy; Dilated cardiomyopathy A"lo=<>mal Domin3Jll 160790
MYLK Mar(an 3yn~rom•: L<><>ys-Di~lz Syndromes: TAAD AutoOOrDal Domirlarot 60092.2
MYH7 llyp~rtrophic ~ardiomyopathy; Dilated cardio>!lyopathy Allto.omal Dominant 160760
••
MYHll ~or{.., Syndrom~: l.oey•-Dietz Syndromes; TAAD Aut-os-or·n:ll Oomir't.ml 160745
NF2 Ne\rro!ibromstosis type 2 A\OIO~'Ornal Dominant 607379
PCSK9 Frunilial hyper"tho!eel~tol~::mia. Autosomal Dominant 6()1186
PKP2 Arrltythmogeni~ right ventricul:!r cardioroyopall1y Aulo.oom~l Dominant 602861
••
PMSZ L.vnoh Syndrome AutoSOln'3.\ Dunllr)~P'It 600259
PRKAGZ Hypertrophic Ollldiomyop•thy; Oil•!od cardiomyopathy Autosorual Do>!>itlant 602743
PTEN PTEN Hamartoma Tumor Syndrom• Autosomal Dominant 60171.3
RBI · Rotinoblaotom a Autosomal Dominant 614041
••
Multiple Endoorino Nility Autosomal Dominant IS0901
RYR1. Catc~holaminergj~ polymorphic ventrioulor (4chyoardia Autosomal Domin:mt IK090l
••
SCNSA Lon!!: QT syndrome: Brugada ~yndroroe Autosomol Dominant 600163
SDHAF2 H.cod~t.ry P"'•ganglioma-l'heochrotilocytoros Syndrorue Autooomal Oominanl 613019
SDHB Hereditary Pot':lg:,ozliomi>"Phooc;;hromooytoma Sydnrome Autosomal Don1inanl 185470
SDHC fioreditarv PSI'a~ar,g:lioma-Phocchroroooyloma Sydnromc Autosomal Domin:illt 60241~
•• SD!ll)
SMAD3
STIyopathy Autosomal Dominant 191044
••
TNNT2 Hyp•rtrophio cardiomyopathy; Dilated co;diort>yopatJ,y A~>towmalbominanl 191045
TP53 Li-Fra11m~ni Syndrome Autosomal Domi11a<~l 191170
TPMl Hy)) .•• ' •·, •. •· ·•·.·.. ~'· ·• "•"
VITAMIN "D" DEFICIENCY
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•• EHLERS-DANLOS SYNDROME
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• D Uetictency and Kelated Utso~cters
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•• Medscape Reference
Reference
•• •
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News
Reference
••
• Education
• MEDLINE
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•• Vitamin D Deficiency and Related Disorders
•• • Author: Vin.Tangpricha, MD, PhD; Chief Editor: George T Griffing, MD more ...
Updated: Dec 10, 2012
•• Background
VItamin D deficiency in children can manifest as rickets (it is the most common cause of nutritional
••
rickets), which presents as bowing of the legs. Vrtamin D deficiency in adults results in osteomalacia,
which presents as a poorly mineralized skeletal matrix. These adults can experience chronic musde
aches and pains (see the images below).[1J(See Presentation and Prognosis.)
•• -·-', _..·---:;._, .. ~-'·--
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Findings in patients with rickets .
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•• Anteroposterior and lateral radiographs of the wrist of an 8-year-old boy with rickets demonstrates cupping and
•• fraying of the metaphyseal region .
Vitamin D is important for calcium homeostasis and for optimal skeletal health. The major function of
vitamin D is to increase the efficiency of calcium absorption from the small intestine. Heaney and
••
colleagues demonstrated that maximum calcium absorption occurs at levels of 25-hydroxyvitamin D
(25[0H]D) greater than 32 ng/mL (See Pathophysiology and Etiology.)[ZJ
Vitamin D also enhances the absorption of phosphorus from the distal small bowel. Adequate calcium
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and phosphorus absorption from the intestine is important for proper mineralization of the bone. The
second major function of vitamin D is involvement in the maturation of osteodasts, which resorb calcium
• 7 1/31/2013 11:36 AJ
,.••
.•• ~· ~-u-•-••-J ~- •·-·-·-- ~---·'--·- ----r-· ----------·····-·-
••·,· from the bones. (See Pathophysiology and Etiology.)
The term vitamin 0 refers to either vitamin 02 or vitamin 03. Vitamin 03, also known as cholecalciferol,
is either made in the skin or obtained in the diet from fatty fish. Vitamin 02, also known as
ergocalciferol, is obtained from irradiated fungi, such as yeast. Vitamin 02 and vitamin 03 are used to
.•
~-
supplement food products or are contained in multivitamins. (See Treatment and Medication.)
•••
·,
Past studies suggested that vitamin 03 may be more effective than vitamin 02 in establishing normal
3 4
vitamin 0 stores. [ , 1However, a study by Holick and colleagues demonstrated that vitamin 02 and
vitamin 03 appear to be equipotent in raising 25(0H)O concentrations when they are given in daily
doses of 1000 1u.l5l
••••• Physiology
••• The production of vitamin 03 in the skin involves a series of reactions initiating with
7 -dehydrocholesteroL Upon exposure to ultraviolet B (UVB) radiation between the wavelengths of
290-315 nm, 7-dehydrocholesterol is converted to previtamin 03, which is then converted to vitamin 03 .
after a thermally induced isomerization reaction in the skin. From the skin, newly formed vitamin 03
•• enters the circulation by binding to vitamin 0 binding protein (OBP). In order to become active, vitamin
to
0 requires 2 sequentfal tiyCiroxylafions fo'mi 1,25-dihydroxy\ntaniin b (1 )5[6H]2 bf .
Vitamin 0 is initially hydroxylated in the 25 position by the hepatic microsomal and/or mitochondrial
•• enzyme vitamin 0 25-hydroxylase. The second hydroxylation occurs in the kidney and is performed by
the P450 enzyme 25-hydroxyvitamin D-1 alpha-hydroxylase .
Upon entering the cell, the 1,25(0H) 0 hormone binds to the vitamin 0 receptor (VDR). The bound
••
2
vitamin D receptor then forms a heterodimer with the retinoic acid X receptor (RXR). This heterodimer
then goes to the nudeus to bind deoxyribonudeic acid (DNA) and increases transcription of vitamin
D-related genes.
•• Pathophysiology
Inadequate circulating 25(0H)D is associated with elevated parathyroid hormone (PTH); this condition
•• is called secondary hyperparathyroidism. The rise in PTH may result in increased mobilization of
calcium from the bone, which leads to decreased mineralization of the bone.
Of note, prolonged exposure to the sun does not cause vitamin 0 toxicity. This is because after
••
prolonged UVB radiation exposure, the vitamin 0 made in the skin is further degraded to the inactive
vitamin 0 metabolites tachysterol and lumisteroL
Etiology
•• Vitamin D deficiency can result from the following:
••
• Inadequate exposure to sunlight - This causes a deficiency in cutaneously synthesized vitamin 0;
adults in nursing homes or health care institutions are at a particularly high risk!BJ
• Vitamin 0 malabsorption problems - People who have undergone resection of the small intestine
are at risk for this condition; diseases associated with vitamin D malabsorption include celiac
••
sprue, short bowel syndrome,[71 and cystic fibrosis!BJ
• Minimal amounts of vitamin 0 in human breast milk - The American Academy of Pediatrics
recommends vitamin D supplementation starting at age 2 months for infants fed exclusively with
breast milk!9 1
•• • Medications - Some medications are associated with vitamin 0 deficiency; drugs such as Oilantin,
phenobarbital, and rifampin can induce hepatic p450 enzymes to accelerate the catabolism of
vitamin 0
•• Epidemiology
Mortality/Morbidity
•• Occurrence in the United States
••
Vitamin D insufficiency is highest among people who are elderly, institutionalized, or hospitalized. In the
1 11
United States, 60% of nursing home residentsi 0J and 57% of hospitalized patientsl 1were found to be
vitamin 0 deficient.
••
However, vitamin 0 insufficiency is not restricted to the elderly and hospitalized population; several
studies have found a high prevalence of vitamin 0 deficiency among healthy, young adults. A study
determined that nearly two thirds of healthy, young adults in Boston were vitamin 0 insufficient at the
end ofwinter.1 121
•• Vitamin 0 status may fluctuate throughout the year, with the highest serum 25(0H)O level occurring
after the summer and the lowest serum 25(0H)O concentrations after winter. A study by Shoben at el
demonstrated that mean serum 25(0H)O concentrations can vary as much as 9.5 ng/ml. Factors such
:7 113112013 11 :36 AJ
• D Deficiency and K.etated Utsotders
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•• as male sex, higher latitude, and greater physical activity levels were found to be associated with
greater differences in serum 25(0H)D concentrations in winter and summer. [ 1
13
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International occurrence
14
Similar rates of vitamin D deficiency have been reported in Europe1 1and Canada. A greater
••
prevalence of vitamin D deficiency exists in Middle Eastern countries. A study of 316 young adults aged
30-50 years from the Middle East showed that 72.8% had 25(0H)D values of less than 15 ng/dl (that
is, severely deficient). This was significantly more common in women than in men (83.9% vs 48.5%,
respectively). The difference between sexes probably reflects the cultural and religious practices
15 16 17 18
••
leading to less skin exposure in women than in men_l · · · 1
Race-related demographics
•• Darker skin interferes with the cutaneous synthesis of vitamin D. A study by Holick and coauthors
demonstrated that non-Hispanic black subjects require 6 times the amount of UV radiation necessary to
. produce a_ §ef1Jm yi!amin D concentration similar to that found in non-Hispani~ white subjectsP 91 The
••
. . expfanatlonfortlie'lncreased.radiatiorinecessary"to·increase Vltamill'D'Ievels·is"that melanirfabsorbs'·
ultraviolet radiation .
The decreased efficacy of vitamin D production by darker-pigmented skin explains the higher
prevalence of vitamin D insufficiency among darker-skinned adults. Dawson-Hughes and colleagues
•• demonstrated that in Boston, 73% of elderly black subjects were vitamin D insufficient, compared with
20
35% of elderly non-Hispanic whites. 1 1
In a large survey of 1500 healthy black women younger than 50 years, 40% were vitamin D deficient
•• (25[0H]D < 16ng/ml), compared with 4% of 1400 white women in that study.121 1
Age-related demographics
•• Vitamin D production in the skin dedines with advancing age, making elderly populations more
dependent on dietary vitamin D. For the average older person, higher dietary intake of vitamin D may be
required to achieve optimal serum levels of 25(0H)D.1221
•• Prognosis
23 24
••
The treatment of vitamin D insufficiency can decrease the risk of hip and nonvertebral fractures. 1 · 1A
meta-analysis by Boonen et al of postmenopausal women and of men aged 50 years or older reporting
a risk of hip fracture found that oral vitamin D supplementation reduced the risk of hip fractures by 18%
25
when vitamin D and calcium were taken together. 1 1Most of the trials that demonstrated the antifracture
•• efficacy of vitamin D used approximately 800 IU of vitamin D3. The minimum 25(0H)D level at which
antifracture efficacy was observed was 30 ng/ml (74 nmoVL), suggesting a threshold for optimal levels
of 25(0H)D for fracture protection .
••
Results from another meta-analysis, evaluating the efficacy of oral vitamin D supplementation in the
prevention of hip and other nonvertebral bone fractures in individuals aged 65 years or older, indicated
26
that vitamin D offers dose-dependent fracture protection.1 1The analysis, by Bischoff-Ferrari et al, took
into account 12 double-blind, randomized, controlled trials (RCTs) for nonvertebral fractures {n =
•• =
42,279) and 8 RCTs for hip fractures (n 40,886), comparing the results obtained from the use of oral
vitamin D (with or without calcium) with those derived from the administration of calcium alone and from
placebo use .
•• In this study, doses of more than 400 IU/day were found to reduce fractures by at least 20% in
individuals aged 65 years or older. In contrast to the Boonen study, the investigators maintained that
these effects were independent of calcium supplementation.
•• Vrtamin D insufficiency contributes to osteoporosis by decreasing intestinal calcium absorption. [2, 27]
28 29
Treatment of vitamin D deficiency has been shown to improve bone mineral density.1 · 1An analysis
of the Third National Health and Nutrition Examination Survey (NHANES Ill) demonstrated a positive
••
correlation between circulating 25(0H)D .levels and bone mineral density. [30J
Vitamin D supplementation has been associated with a reduction in falls and improved muscle strength
in the elderly. A meta-analysis demonstrated that vitamin D supplementation resulted in a reduction in
31 32
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falls of about 22% in ambulatory and institutionalized elderly subjects, as compared with controls.1 · 1
Another meta-analysis examining musde strength associated with vitamin D supplementation found
significant improvement in reduced postural sway, timed up-and-go test results, and lower extremity
33
strength in a pooled analysis of 13 studies.1 1
•• 36 37 38 139
· · 1; these apparently include breast, colon, and prostate cancer. · 40J Several studies using
34 35
Epidemiologic data suggest that vitamin D deficiency places adults at risk for developing cance~ · ·
••
cultured cancer cells in mice models have also supported the notion that vitamin D prevents the growth
of cancers. 1411 Larger, randomized dinical trials are underway in humans to establish the role of vitamin
D in the prevention of cancers .
• 7 1131/2013 11:36 Al
-~ -· ~-··-·---J ~- ·--·---- ~---~---- ----r-·· --------------------c ------ --------· -- -
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••
42 22
Vitamin D insufficiency may increase the risk for type I and type II diabetes mellitus.l · lln NHANES
Ill, lower vitamin D status was associated with higher fasting glucose and 2-hour glucose after an oral
43
glucose tolerance test) 1Furthermore, vitamin D supplementation in adults has been associated with
••
improved insulin sensitivity in several small, case-control studies)421
Joergensen et al determined that vitamin D deficiency in type 1 diabetes may predict all causes of
mortality but not development of microvascular complications.1441The contribution of vitamin D
••
deficiency to mortality must be mediated by nonvascular mechanisms .
A meta-analysis evaluated the effect of vitamin D supplementation (using a mean supplementation
dosage of about 500 IU daily) on all-cause mortality in 18 randomized controlled trials and found a 7%
••
45
relative risk reduction for death) 1Severe vitamin D deficiency (25(0H)D < 10 ng/ml) has been
associated with increased in-hospital mortality in patients admitted for acute coronary syndrome. [4SJ
A Cochrane Review of 50 randomized, controlled trials that included more than 94,000 individuals,
•• primarily elderly women, found that vitamin D3 supplementation decreased mortality. Other forms of
vitamin D, including vitamin D2, calcitriol, and alpha-calcidiol, did not reduce mortality.l471
••
•• Contributor lnfonnation and Disclosures
Author
Vin Tangpricha, MD, PhD Associate Professor of Medicine, Division of Endocrinology, Metabolism
and Lipids, Emory University School of Medicine
•• Vin Tangpricha, MD, PhD is a member of the following medical societies: American College of
Clinical Endocrinologists and Endocrine Society
•• Disclosure: NIH Grant/research funds Principal Investigator; Novadiol Consulting fee Consulting;
Cystic Fibrosis Grant/research funds Other
Coauthor(s)
••
Natasha B Khazai, MD Instructor of Medicine, Division of Endocrinology, Emory University School
of Medicine
Natash a B Khazai, MD is a member of the following medical societies: American Association of
•• Clinical Endocrinologists and Endocrine Society
Disclosure: Nothing to disclose .
••
Chief Editor
George T Griffing, MD Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the
••
Advancement of Science, American College of Medical Practice Executives, American College of
Physician Executives, American College of Physicians, American Diabetes Association, American
Federation for Medical Research, American Heart Association, Central Society for Clinical Research,
Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical
••
Investigation
Disclosure: Nothing to disclose .
••
Additional Contributors
Romesh Khardori, MD, PhD, FACP Professor of Endocrinology, Director of Training Program,
Division of Endocrinology, Diabetes and Metabolism, Strelitz Diabetes and Endocrine Disorders
Institute, Department of Internal Medicine, Eastern Virginia Medical School
•• Romesh Khardori, MD, PhD, FACP is a member of the following medical societies: American
Association of Clinical Endocrinologists, American College of Physicians, American Diabetes
Association, and Endocrine Society
•• Disclosure: Nothing to disclose .
Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska
••
Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference
Disclosure: Medscape Salary Employment
••
References
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113112013 11:36 AI\
• u Uettctency ano Ketateo Utsotoers llUp:ttt:lllt:UlCUlt:.Illt:USCapt:.CUIWi:lHJCJC/ u:.o /U~-UVCJ VIC\
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-,.,,. . . . . --r··· -~--~- .... ---~-----r-·----- ------· ---- -- -
,.
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, . D Deficiency and Related Utsorders nup:t/emeuu.:ult:.IlleU!SI;i:ljJC.IoMllliC1l U'-'UO/ >..<.U I V"'--V Y'-'' • '"' ••
••
•·-·,\.
,.
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53. Bogh MK, Gullstrand J, Svensson A, Ljunggren B, Dorl•
recognized Centers of Excellence in dozens of pediatric subspecialties, including allergy, cardiology, cystic fibrosis,
gastroenterology, nephrology, neurology, neurosurgery, oncology, pulmonary, and transplant. Hopkins Children's Center is
celebrating its 100th anniversary in 2012. For more information, please visit www.hopkinschildrens.org
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•:2 1/3112013 11:18 A;
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Related lnfonnation
••
News Features
Rosemont, IL, October 17, 2012 -A startling increase in the frequency of severe vitamin D Vitamin D Supplementation
Health & Safety Tops deficiency is being reported in the U.S. and other counbies. This severe deficiency can for Infants
Public Service have a devastating impact on a child's bone strength, the United States Bone and Joint The American Academy of Pediatrics
(AAP) recommends Vitamin D
••
Announcements Initiative (USBJI) says. "Vitamin D is essential to our body's ability to absorb calcium from
supplementation for breastfed infants
AAP in the News our diet to buUd strong bones which are the building blocks of a healthy body, and to make because they generally do not obtain
muscles move," says Dr. Ellen Raney of Shriners Hospitals for Children in Portiand, adequate Vitamin D from other sources.
AAP Press Room Oregon. Several groups have joined USBJI to raise awareness of the importance of strong
Media Center Media Kits
••
bones and muscles during World Pediabic Bone and Joint (PB&J) Day, celebrated on
AAP Conferences The American Academy of Pediatrics
October 19, which is part of Bone and Joint Health National Awareness Week (Oct. 12-20) .
Press Information (AAP) assembles practice guidelines, key
studies and other information to assist
Media Kits Dr. Raney explains, "Vitamin D deficiency or nubitional rickets can show up in several reporters who are researching stones .
••
Spokesperson ways. If the problem starts early, kids' growth may be severely stunted. The anns or legs
may not grow straight, or bones may be weak and easily broken." Media Kit: Nutrition
Resources
The American Academy of Pedaitrics
Leadership Bios (AAP) has assembled key reports,
Jesus• is a 14-year-old boy with a dark complexion who began to complain of knee pain studies and other resources to assist
Embargoed Media when he ran. Always a bit •knock-kneed," this became more pronounced, and he stopped reporters in their research on nubition.
•••
Content playing basketball because of knee pain. His examination and X-rays showed severely
abnonnal bending at both knees. A blood test showed severe vitamin D deficiency. AAP Recognizes the
Donate Now Importance of School
Jack• is a 15-year-old boy with very pale skin who has always preferred video games to Physicians
Corporate Every school disbict should have a
sports and doesn't get outside much. He was able to participate in physical education in school physician and every school
Relationships
school until recently, when he began having pain in both knees. His examination and x-rays
••
building a school nurse, according to a
Employment at AAP showed he had fractures in both shin bones. His vitamin D level also was severely new policy statement from the American
deficient. Academy of Pediabics (AAP).
Advertise with AAP
,. .. Strength Based Approach
Neither of these teenagers was born with this problem. Jesus' vitamin D deficiency A3..
••
Help!Feedback Building on the asset model, the strength
prevented his bones from growing straight. Jack's severe vitamin deficiency led to his
bones being too weak to support his weight.
l'l'/f-:;."
.... _ .;::_ •
based approach gives a broad
perspective on development more so
than the traditional deficit approach .
During sunny times, the body can make sufficient vitamin D with just a few minutes a day
•• of midday sun exposure without sun screen. However, dermatologists caution against
direct sun exposure to avoid risks of skin damage and skin cancer. A useful alternative to
sun exposure is supplemental vitamin D. There is some controversy about the amount of
vitamin D that children and adults should take in, ranging from 400 IU to 2,000 IU daily. The
•• American Academy of Pediatrics and the Institute of Medicine recommend a daily intake of
400 IU per day of vitamin D during the first year of life beginning in the first few days, and
600 I U for everyone over age 1. Everyone- and in the case of children, their parents-
should consult their primary care professional to determine the correct amount of vitamin D
•• they should be taking to ensure optimal vitamin D levels .
Both of these youngsters are doing well now thanks to a team approach including
orthopaedic and pediabic specialists, and each has been placed on a vitamin D
•- replacement program specific to his needs .
For more information about Vitamin D levels recommended for children, visit the website
for the American Academy of Pediabics, the Institute of Medicine, or Your Orthopaedic
•• Connection .
This story is brought to you as part of World Pediabic Bone and Joint (PB&J) Day ,
celebrated on October 19, which is part of Bone and Joint Health National Awareness
•• Week (Oct 12-20).
###
•
j2 1131/2013 11:11 A1
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••-·
-·••••
The American Academy of Pediatrics is an organization of 60,000 primary care
pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated
to !he health. safety and well-being of infants, children, adolescents and young adults. For
more information. visit www.aap.org .
• •• Professional Resources Continuing Medical Education Advocacy & Policy AAPStore About the AAP
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Practice Support Pedialink/Online Education AAPPolicy GototheAAP AAP Facts
Clinical Support Maintenance of Certification Federal Advocacy Bookstore Departments &
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Research Community Advocacy
Education in Quality Improvement for l..ife Support Councils & Sections
Journals.& Publications
·. J>evl-startclickprintexclude->
By Denise Mann
A whopping 70 percent of American kids aren't getting enough vitamin D, and such youngsters tend to have higher blood pressure and lower levels of good cholesterol than their peers,
•• according to two new studies published this week in the journal Pediatrics. Low vitamin D levels also may increase a child's risk of developing heart disease later in life, experts say.
"We were astounded at how common it was," says study author Dr. Michal Melamed, an assistant professor of medicine, epidemiology, and population health at the Albert Einstein College
of Medicine, in the Bronx, New York. .. There is a lot of data that suggests adults with low vita min-D levels are at risk for diabetes, high blood pressure, cardiovascular disease, and a lot of
cancers, and if kids start out with low levels and never increase them,.they may be putting themselves at risk for developing all of these diseases at a much eartier age."
•• Vitamin Dis often called the "sunshine vitamin" because the human body makes it only when exposed to sunlight- although it only takes 10 to 15 minutes a day to make an adequate
amount. Vitamin D, which helps the bones better absorb calcium, is also added to multivitamins and milk .
In Melamed's study, the researchers looked at the vitamin D levels of more than 6,000 people ages 1 to 21. They checked for vitamin-D deficiency, which is defined as less than 15
••
nanograms per milliliter of blood (ng/mL), and vitamin-D insufficiency, Which is defined as 15 to 29 ng/mL Overall, 7.6 million, or 9 percent, of U.S. children were vltamin-D deficient, and
another 50.8 million, or 61 percent, had insufficient levels of this important vitamin in their blood.
Children with low levels of vitamin D were more likely to have high blood pressure and lower levels of high-density lipoprotein, also known as good cholesterol .. two factors that are
considered major risk factors for heart disease later in life. Health.com: How cholesterol affects your heart's health
•• Children with low vitamin-D levels also had higher levels of parathyroid hormone than their counterparts with adequate vitamin D in their blood. Parathyroid hormone is a measure of bone
heatth. When levels are high, it suggests that bones need more calcium to grow. ~~;1 \1\B.tch more on kids in the U.S. and low levels of vitamin 0 »
Overall, those most at risk for a vitamin-D deficiency were older, female, obese, drank milk less than once a week, and spent more than four hours a day watching TV, playing video games,
••
or working on a computer. They were also more likely to be children with darker skin, Including non-Hispanic blacks and Mexican-Americans. (Children with darker skin are more likely to be
deficient in vitamin D because they have more melanin than their fairer counterparts. Melanin is the pigment that gives skin color, but it may prevent the skin from absorbing enough
sunlight to produce an adequate amount of vitamin D.) Health.com: Battle aging with vitamin D
In the second study, a research team led by Jared P. Rels, Ph.D., of Johns Hopkins Medical Institutions, looked at 3,577 adolescents ages 12 to 19. Those with low levels of vitamin D were
••
more likely to have high blood pressure, high levels of blood sugar, and metabolic syndrome (a cluster of factors known to increase risk of heart disease) than their counterparts with ample
vitamin D in their blood, regardless of how much they weighed.
Exactly how a lack of vitamin D Increases the risk of heart disease is an evolving story. In terms of blood pressure, vitamin D helps control renin, a protein that plays a role in regulating
blood-pressure levels. Health. com: Why belly fat increases type 2 diabetes risk
•• The best vitamin·D boosting strategy Involves a three-pronged approach, says Melamed. "You can get a little bit from food, but not as much as you need," she says. "Supplements are
readily available, and kids like to take Flintstones or gummy-bear multivitamins, which typically contain vitamin D.""
Also, parents should help their children get at least 10 to 15 minutes of sun exposure daily without sunscreen. "Set your watch and then apply sunscreen after 15 minutes;• Melamed says.
••
Some children, including those In high-risk groups, may need to be screened to check for low vita min-D levels.
Dr. Michael F. Holick, Ph.D., a professor of medicine, physiology, and biophysics at Boston University School of Medicine, and the author of "The Vitamin D Solution" (to be released In April
2010), has been sounding an alarm about the dangers of low vitamln-D levels for years. Health.com: Easy food swaps cut cholesterol, not taste
••
"This is a recipe for serious diseases occurring in our children when they are in their 20s and 30s," he says. Holick was among the first to document the return of rickets-a disorder caused
by a lack of vitamin D and other minerals-which can lead to the softening and weakening of the bones. Health. com: How to get vitamin D safely
"[But] rickets is just the tip of the iceberg," Holick says. "VItamin-D deficiency has insidious, serious long-term health consequences for children that could remain with them throughout
their lives," he explains. "(Parents should know) their child is likely to be vitamin-D deficient if the child does not take a supplement of 400 IU vitamin D a day and receive some unprotected
••
sun. II is next to impossible to get enough vitamin D from diet, and the sun-phobic attitude has made the problem much worse."
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COPYRIGHT HEALTH MAGAZINE 2009
•• All AboutCholesterol • High Blood Pressure
•• Find this artide at:
http:/lwww.cnn.com/2009/HEALTH/08/03/vitamin.d.childrenlindex.html#cnnSTCText
•• El Check the box to include the list of links referenced in the article .
~ 2008 Cable News Network
••
• 1 1/31/20 13 11 :26 A
•• I
Ehlers-Danlos Syndrome I Doctor I Patient.co.uk Page 1 ot)
••
•• Ehlers-Danlos Syndrome
•• PatientPius articles are written by UK doctors and are based on research evidence, UK and European Guidelines .
••
They are designed for health professionals to use, so you may find the language more technical than the condition
leaflets .
•• Ehlers-Danlos syndrome (EDS) is a rare inherited condition with disruption of the integrity of structural proteins in
skin, ligaments, cartilage and blood vessels, leading to fragility of connective tissues .
•• ·Epidemiology
• Ehlers-Danlos syndrome (EDS) affects approximately 1 in 5,000 live births. 111
•• • Inheritance is usually autosomal dominant.
•• Presentation
Abnormalities of collagen production result in:
•• •
•
Bruising, bleeding from the gastrointestinal tract.
Dissecting aortic aneurysm at an early age .
••
• Wide scars .
• Laxity of joints.
• Herniae .
• Hyperelasticity of skin .
•• The first presentation may be premature rupture of the membranes .
••
••
••
••
••
••
••
••
•• Types of Ehlers-Danlos syndrome
• http://www. patient.co. ukldoctor/ehlers-danlos-syndrome-pro 1/20/2014
,. I
Ehlers-Danlos Syndrorhe I Doctor I Patient.co.uk
••
Page 2 ot5
•••• There are many types of Ehlers-Danlos syndrome (EDS) based on different gene
mutations affecting the structure or assembly of different collagens. All share
common features of fragile skin and laxity of joints and ligaments. The Villefranche
Save time & improve your
on Patient.co.uk
•• classification of EDS substituted descriptions for earlier types numbered with
Roman numerals:l2l Add notes to any
clinical page and
create a reflectivE
•• • Classic (formerly known as Type I and II):
• Classical features of EDS (soft, doughy, hyperelastic skin) with atrophic
scars .
••
• Multiple bruises, especially on the legs .
• Easy skin-splitting shows in childhood over the forehead, elbows, knees and
chin .
••
• Other features are epicanthic folds, blue sclerae, fibrous nodules over knees
and ankles. Automatically track and log eve,
page you have viewed
••
• Hypermobile type (tormaily known as Type Iii):
• Most common and often not diagnosed. Print and export <
• Characterised by tall stature, blue sclerae and ready bruising . summary to use i
• Shows marked joint hypermobility but moderate skin elasticity and no appraisal
•• scarring .
• Vascular type (formally known as Type IV)Yl
•• • Appears as thin skin with venous patterns readily visible, ecchymoses over
the knees and shins, premature ageing of the skin on the dorsum of the
hands, feet and shins with a 'Madonna' face with large eyes, nasal thinning and small ear lobes.
•• • The main problem is spontaneous rupture of medium/large arteries at any age from mid-adolescence to late
adult life. Arterial aneurysms are also common.
• Death results from arterial rupture but rupture of the sigmoid colon is also common .
••
• Recent studies showed that 15% of women who became pregnant died due to complications during pregnancy .
• Overall median lifespan is reduced to 48 years .
•• • Kyphoscoliosis type (formally known as Type VI):
• Severe main features with early progressive fibrosis and severe motor delay .
••
• Arthrochalasia type (formally known as Types VII A and B):
• Severe main features, short stature, hip dislocation, dentinogenesis imperfecta .
••
• Dermatosparaxis type (formally known as Type VII C):
• Main features are variable, early tooth loss with severe periodontitis .
•• Differential diagnosis
• Cutis laxa.
•• • Pseudoxanthoma elasticum .
• Other causes of joint hypermobility, eg benign joint hypermobility syndrome, Marfan's syndrome, osteogenesis
imperfecta. 141
•• Investigations
•• • Diagnosis is normally made on the clinical presentation .
• Subcutaneous calcified spherules can be confirmed on X-rays .
•• Management
• There is no specific treatment.
•• • Celiprolol, a beta1-adrenoceptor antagonist with a beta2-adrenoceptor agonist action, has been used to prevent
arterial dissections and ruptures. tsJ
• Trauma should be minimised, and protective clothing and padding may help .
••
• http://www. patient. co. uk/doctor/ehlers-danlos-syndrome-pro 1/20/2014
•••• I
Ehlers-Danlos Syndrome I Doctor I Patient.co.uk Page 3 of5
.•..,.i.
-
•• • Genetic counselling should be provided.
Complications
·,·).i. • Pregnancy may be very dangerous. Obstetric complications include risk of uterine rupture during labour, damage to
the vagina and perineum, bleeding and rupture of blood vessels and the colon during the puerperium.[sJ
• Abnormal bleeding may cause extreme difficulty with any surgical operation.
\. •••..
Prognosis
• Lifespan is usually normal unless there is marked vascular fragility .
• A high prevalence of severe complications occurs in a minority of families .
,
•• Further reading & references
• Ehlers-Danlos Syndrome, Type 1, Online Mendelian Inheritance in Man (OMIM); See OMIM for other types of
••
Ehlers-Danlos
• Ceccolini E et al, Ehlers-Danlos Syndrome, Medscape, Sept 2011
• Gawthrop F, Mould R, Sperritt A, et al; Ehlers-Danlos syndrome. BMJ. 2007 Sep 1;335(7617):448-50 .
•• 1. Whitelaw SE; Ehlers-Danlos syndrome, classical type: case management. Dermatol Nurs. 2004 Oct;16(5):433-6,
449 .
••
2. Beighton P, De Paepe A, Steinmann 8, et al; Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997 .
Ehlers-Danlos Am J Med Genet. 1998 Apr 28;77(1):31-7.
3. Watanabe A, Shimada T; Vascular type of Ehlers-Danlos syndrome. J Nippon Med Sch. 2008 Oct;75(5):254-61 .
4. Malfait F, Hakim AJ, De Paepe A, et at; The genetic basis of the joint hypermobility syndromes. Rheumatology
•• (Oxford). 2006 May;45(5):502-7. Epub 2006 Jan 17 .
5. Ong KT, Perdu J, De Backer J, et al; Effect of celiprolol on prevention of cardiovascular events in vascular Lancet.
2010 Sep 6.
•• 6. Erez Y, Ezra Y, Rojansky N; Ehlers-Danlos type IV in pregnancy. A case report and a literature review. Fetal Diagn
Ther. 2008;23(1):7-9. Epub 2007 Oct 9 .
•• Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical
conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its
accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For
••
details see our conditions .
Original Author: Dr Colin Tidy Current Version: Dr Hayley Willacy
•• Last Checked: 20/04/2011 Document ID: 866 Version: 23 ©EMIS
••
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evidence based information on a wide range of medical and health topics to patients
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•-·. Ricketts or Vitamin D deficeincy can there be a Genetic Link - JustAn.swer Page 1 of2
,.••,.
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answer.® Medical
•••
-·• Ricketts or Vitamin D deficeincy can there be a Genetic link
Sent to Medical Experts September 8 2009 at 10:14 PM
•• Ricketts or Vitamin D deficeincy can there be a Genetic Link ?
•• ·~ 0ptionallnformation:··
Gender: male
••
Age: 5mos
Already Tried:
•• Another sibling( currently lOy/o) has had this deficiency & he suffered broken bones@ the
age of 2mos.Later he developed lesions to his eyes & that time this child was about 5 y/o so
then was diagnosed with Vitamin A deficieny. Later as the child grew he also became Deficient
•• in Vitamin E, & K. This 10y/o child currently sees an Endocrinologist for treatment. This 10 y/o
has seen a GI doctor, whom says there is nothing wrong, so the only MD willing to treat the
10 y/o sibling for the Vitamin Deficiencies is the Endocrinologist. I am concerned because the
•• Smonth old is half brother to the 10 y/o & I had seen a few familiar sypmtoms that were also
present on the iDyjo .
Sept99 (Onlin.s} -- 1 Accept I LQuesticn. .... -
•• Status: Awaitin9 Expert Reply Va!ue: $45
•• Septernber 8 2009 at 10:24 PM (10 minutes and 24 seconds iater)
•• Thanks for your important and interesting question. I would say that as we know that in
rickets there is weakening of bones and muscles due to !ack of vitamin D and/or calcium. Yes
there is linkage in a rare type of rickets. There is a type in rickets caHed familiai
•• hypophosphatemic rickets which is a rare disease to have and mostiy transmitted as an X-
!inked dominant trait, and mutations on the phosphate regulating gene X-chromosome (PHEX)
gene are responsible for the disease. Similarly, two hereditary defects related to vitamin D
•• metabonsrn map tc human chromosome 12q13-14. There ~sa need for more stud~es to be
done and trials are going orL
•• Do .A.CCEPT the answer if you find it ·usefui in this way I rnight get cornpensated for rny vvorK
and time here. Bonuses and positive feedback vv-Hi be appreciated .
•• Best of !uck and keeo in touch
Regards
DL ,Arr1lr Javed
•• Edited by Qr_ Amir on September 8 2009 at 10:42 ~f"'l
Dr. Amir (Offline) -· Doctor -- 100°/0 Positive Feedback on 1297 Medical ·-·.....
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•• Ricketts or Vitamin D deficeincy can there be a Genetic Link - JustAnswer Page 2 of2
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Your Reply Edit
September 8 2009 at 10:58 PM (33 minutes and 33 seconds later)
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where do we get testing?
Sept99 (Online) -- 1 Accept I 1 Question
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443 U.S. 307 (1979). Adames v. State, 353 S.W.3d 854,859 (Tex. Crim. App. 2011), cert. denied,
132 S. Ct. 1763 (20 12). We examine all the evidence in the light most favorable to the verdict and
•• determine whether any rational trier of tact could have found the essential elements of the offense
•• beyond a reasonable doubt. Jack 443 U.S. at 319; Adames, 353 S.W.3d at 860. This standard
••
recognizes "the rcsponsibi lity of the trier of fact fairly to resolve conflicts in the testimony, to weigh
the evidence, and to draw reasonable inferences from basic facts to ultimate facts." Jackson, 443
•• U.S. at 319; see also Adames, 353 S.W.3d at 860. The jury, as the fact finder, is entitled to judge
•• the credibility of the witnesses, and can choose to believe all, some, or none of the testimony
•• presented by the parties. Chambers v. State, 805 S.W.2d 459, 46 L (Tex. Crim. App. 1991). We
defer to the jury's determinations of credibility, and may not substitute our judgment for that ofthe
•• fact finder. Brooks v. State, 323 S.W.3d 893, 899 (Tex. Crim. App. 2010) (plurality op.); King v .
•• State, 29 S. W .3d 556, 562 (Tex. Crim. App. 2000) (in conducting legal sufficiency analysis,
•• appellate court "may not re-weigh the evidence and substitute our judgment for that of the jury").
"Circumstantial evidence is as probative as direct evidence in establishing the guilt of an actor, and
•• circumstantial evidence alone can be sufficient to establish guilt." Hooper v. State, 214 S.W.3d 9,
•• 13 (Tex. Crim. App. 2007) .
••
•• -5-
•
••
••
•• There was no dire(;t evidence of when and how M.G. was injured. However, M.G. was not
injured when Breeze examined him on Monday, August 24th. When Lydia changed M.G.'s clothes
•• on Tuesday evening, she did not notice anything wrong with M.G. Further, according to Lydia, M.G .
•• was using his left arm on Tuesday evening before he was put to bed. Lydia, Lisa, Jeremy, and Cheryl
•• all testified they heard M.G. give a sharp cry between ll :00 p.m. and 12:00 a.m. on Tuesday evening
••
when Guerrero was alone with M.G. On Wednesday morning, M.G. began crying inconsolably
·-- - .. "-~ . ' ._,. .. ~---" .. -- . ...... ' . ·.::. ----- -·--. ,.___ . ·- ',_ -- --"----
when he woke up. Although James and Cheryl were caring for M.G. on Wednesday morning,
•• neither was alone with him for a significant period of time. Further, both James and Cheryl denied
•• they hurt M.G. on Wednesday morning. When Breeze saw M.G. on Wednesday afternoon, she
••
determined he had a broken left arm. In Breeze's opinion, the break occurred within twelve hours
of her examination of M.G. Dakil testified the break of M.G.'s arm occurred within a day or two
•• of her examination of M.G. Further, M.G.'s ribs had been broken on two occasions. According to
•• Dakil, a significant amount of force was necessary to cause both the broken humerus and the broken
••
ribs .
The jury heard all the testimony. It was the role of the jury ''to resolve cont1icts in the
•• testimony, to weigh the evidence, and to draw reasonable inferences from basic facts to ultimate
•• facts." Jackson, 443 U.S. at 319; see also Adames, 353 S.W.3d at 860. Reviewing all the evidence
•• in the light most favorable to the jury's verdict, we conclude a rational jury could have found beyond
a reasonable doubt that M.G. was injured on Tuesday night and that Guerrero caused the injuries .
•• See Jackson, 443 U.S. at 319; Adames, 353 S.W.3d at 860. We resolve Guerrero's sole issue against
•• him .
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