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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 --~----· •• •• •• 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? •• •- •• 3 • •• •• •• (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 • •• •• •• •• •• •• •• •• (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 . •• •• •• •• •• •• •• •• •• •• •• •• 6 • •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• 7 • •• •• •• 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 .. •• •• •• •• •• •• •• •• •• •• •• ~ • 8 ~ •• , .•• , ~• \ ..• •.• , , .•• •• •• •• , .•• •• •• •• •• •• •• •• •• •• 9 • • ••-·•• -·•• • 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 . •• •• •• •• •• •• •• •• •• •• •• 10 •• • ••• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• 11 •· •• •• •• 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 . •• •• •• •• •• •• •• •• •• •• •• 12 ••.. -------------------------------------------------------------- •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• • ~ •• ~· 13 •• •• •• GROUND: •• •• FACTS SUPPORTING GROUND: •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• 14 • ;. '':l.. ..l. ) ~· ~· ',.,. .•••• ~· ' ••• •• •• •• •• •• •• •• •• •• •• •• •• •• •• 15 • •• •• •• 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 •• ,.. ••,. , 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 ( •• •• •• •• •• •• 17 •• • •• •• •• 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 •• •• •• •• •• •• •• •• •• ~ •• 18 •• •• •• •• •• •• •• •• MEMORANDUM OF LAW •• •• AND •• POINTS AND AUTHORITIES •• •• •• •• •• •• •• •• •• •• • •• •• •• 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) . •• •• •• •• •• •• •• 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 2047n. 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, supraat 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.comT (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 •• •• •• •• •• •• •• •• •• •• •• •• -----------~---``````~-``---``~:``~-````~.------------- 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•-1uffici ~.?.~-~-``-~-=-~-~:!``.'!.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 ~uso Orual 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 N .•• ' •·, •. •· ·•·.·.. ~'· ·• "•" VITAMIN "D" DEFICIENCY .•.• .. • ·. ; ~-. ~-·:<• '-~- •. ·•.• -: .·.·.~o .-.-.~..:.· ·.• ·• _., -·'-"'":.~ .• • • ··""' -.-.•. ~--·•·' '•·-'•" c- •• c •. -'"• · • <.. ~ ••• ; o • .'" • ,,- • , , . · , , •• ~ •• AND •• •• EHLERS-DANLOS SYNDROME •• •• •• •• •• •• •• •• •• •• •• • • D Uetictency and Kelated Utso~cters •• •• Medscape Reference Reference •• • • News Reference •• • Education • MEDLINE •• •• 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.) •• -·-', _..·---:;._, .. ~-'·-- •• •• •• Findings in patients with rickets . •• •• •• •• •• 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 •• 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 •• •• 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 •• 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 •• 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 ------ --------· -- - •• •• 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 1. Holick MF. Vitamin D deficiency: what a pain it is. Mayo Clin Proc. Dec 2003;78(12):1457-9 . (Medline). •: 2. Heaney RP, Dowell MS, Hale CA, et al. Calcium absorption varies within the reference range for 113112013 11:36 AI\ • u Uettctency ano Ketateo Utsotoers llUp:ttt:lllt:UlCUlt:.Illt:USCapt:.CUIWi:lHJCJC/ u:.o /U~-UVCJ VIC\ •• •• serum 25-hydroxyvitamin D. JAm Coli Nutr. Apr 2003;22(2):142-6. [Medline]. [Full Text] . 3. Armas LA, Hollis BW, Heaney RP. Vitamin D2 is much less effective than vitamin D3 in humans. .·•• -~· J Clin Endocrinol Metab. Nov 2004;89(11):5387-91. [Medline]. [Full Text]. •• - 4. Trang HM, Cole DE, Rubin LA, et al. Evidence that vitamin D3 increases serum 25-hydroxyvitamin D more efficiently than does vitamin D2. Am J C/in Nutr. 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Effect of four monthly oral vitamin D3 (cholecalciferol) supplementation on fractures and mortality in men and women living in the community: •• randomised double blind controlled trial. BMJ. Mar 1 2003;326(7387):469. [Medline]. [Full Text] . 25. Boonen S, Lips P, Bouillon R, et al. Need for additional calcium to reduce the risk of hip fracture with vitamin d supplementation: evidence from a comparative metaanalysis of randomized •• controlled trials. J Clin Endocrinol Metab. Apr 2007;92(4):1415-23. [Medline]. [Full Text] . 26. [Best Evidence] Bischoff-Ferrari HA, Willett WC, Wong JB, et al. Prevention of nonvertebral fractures with oral vitamin D and dose dependency: a meta-analysis of randomized controlled trials. Arch Intern Med. Mar 23 2009;169(6):551-61. [Medline] . • • 7 1/31/2013 11:36 AI -,.,,. . . . . --r··· -~--~- .... ---~-----r-·----- ------· ---- -- - ,. 27. Heaney RP. Vitamin D depletion and effective calcium absorption. J Bone Miner Res. Jul ••• 2003;18(7):1342; author reply 1343. [Medline]. 28. Dawson-Hughes B, Harris SS, Krall EA, et al. Effect of calcium and vitamin D supplementation -~· on bone density in men and women 65 years of age or older. N Eng/ J Med. Sep 4 -·-·•• 1997;337(10):670-6. (Medline]. [Full Text]. 29. Harwood RH, Sahota 0, Gaynor K, et al. A randomised, controlled comparison of different calcium and vitamin D supplementation regimens in elderly women after hip fracture: The Nottingham Neck of Femur (NON OF) Study. Age Ageing. Jan 2004;33(1 ):45-51. (Medline]. [Full Text] . 30. Bischoff-Ferrari HA, Dietrich T, Orav EJ, et al. Positive association between 25-hydroxy vitamin • •• D levels and bone mineral density: a population-based study of younger and older adults. Am J Med. May 1 2004;116(9):634-9. (Medline] . 31. Bischoff HA, Stahelin HB, Dick W, et al. Effects of vitamin D and calcium supplementation on falls: a randomized controlled trial. J Bone Miner Res. Feb 2003;18(2):343-51. [Medline]. •• 32. Bischoff-Ferrari HA, Dawson-Hughes B. Staehelin HB, et al. Fall prevention with supplemental . . . and active forms of vitamin· D: a meta-analysis of randomised controlled trials. BMJ, Oct 1 2009;339:b3692. [Medline]. [Full Text] . 33. Muir SW, Montero-Odasso M. Effect of vitamin d supplementation on muscle strength, gait and •• balance in older adults: a systematic review and meta-analysis. JAm Geriatr Soc. Dec 2011 ;59(12):2291-300. [Medline] . 34. [Best Evidence) Lappe JM, Travers-Gustafson 0, Davies KM, et al. Vitamin D and calcium •• supplementation reduces cancer risk: results of a randomized trial. Am J Clin Nutr. Jun 2007;85(6):1586-91. (Medline]. [Full Text). 35. Chen TC, Holick MF. Vitamin D and prostate cancer prevention and treatment. Trends •• Endocrinol Metab. Nov 2003;14(9):423-30. [Medline] . 36. Garland CF, Comstock GW, Garland FC, et al. Serum 25-hydroxyvitamin D and colon cancer: eight-year prospective study. Lancet. Nov 18 1989;2(8673):1176-8. [Medline]. •• 37. Garland CF, Garland FC, Gorham ED. Calcium and vitamin D. Their potential roles in colon and breast cancer prevention. Ann NY Acad Sci. 1999;889:107-19. [Medline] . 38. Garland FC, Garland CF, Gorham ED, et al. Geographic variation in breast cancer mortality in •• the United States: a hypothesis involving exposure to solar radiation. Prev Med. Nov 1990;19(6):614-22. [Medline]. 39. Chen TC, Wang L, Whitlatch LW, et al. Prostatic 25-hydroxyvitamin D-1alpha-hydroxylase and •• its implication in prostate cancer. J Cell Biochem. Feb 1 2003;88(2):315-22. [Medline]. 40. Freedman DM, Rajaraman P, Fuhrman B, et al. Sunlight, hormone replacement status and colorectal cancer risk in post-menopausal women. lnt J Cancer. Sep 30 2009;[Medline). [Full •• Text] . 41. Tangpricha V, Flanagan JN, Whitlatch LW, et al. 25-hydroxyvitamin D-1alpha-hydroxylase in normal and malignant colon tissue. Lancet. May 26 2001 ;357(9269):1673-4. (Medline] . •• 42. Mathieu C, Gysemans C, Giulietti A, et al. Vitamin D and diabetes. Diabetologia. Jul 2005;48(7):1247-57. (Medline] . 43. Scragg R, Sowers M, Bell C. Serum 25-hydroxyvitamin D, ethnicity, and blood pressure in the •• Third National Health and Nutrition Examination Survey. Am J Hypertens. Jul2007;20(7):713-9 . (Medline). 44. Joergensen C, Hovind P, Schmedes A, Parving HH, Rossing P. VItamin d levels, microvascular •• complications, and mortality in type 1 diabetes. Diabetes Care. May 2011 ;34(5):1081-5. [Medline]. 45. [Best Evidence) Autier P, Gandini S. Vitamin D supplementation and total mortality: a meta-analysis of randomized controlled trials. Arch Intern Med. Sep 10 2007;167(16):1730-7. •• [Medline) . 46. Correia LC, Sodre F, Garcia G, Sabino M, Brito M, Kalil F, et al. Relation of Severe Deficiency of Vitamin D to Cardiovascular Mortality During Acute Coronary Syndromes. Am J Cardio/. Nov 20 •• 2012;(Medline]. 47. Bjelakovic G, Gluud LL, Nikolova D, et al. Vrtamin D supplementation for prevention of mortality in adults. Cochrane Database Syst Rev. Jul6 2011;CD007470. [Medline]. •• 48. Hollis BW, Wagner CL. Normal serum vitamin D levels. N Eng/ J Med. Feb 3 2005;352(5):515-6; author reply 515-6. [Medline) . •• 49. Chapuy MC, Preziosi P, Maamer M, et al. Prevalence of vitamin D insufficiency in an adult normal population. Osteoporos Int. 1997;7(5):439-43. [Medline] . 50. Holick MF, Binkley NC, Bischoff-Ferrari HA, et al. Evaluation, Treatment, and Prevention of Vitamin D Deficiency: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol '•7 113112013 11:36 AJI , . D Deficiency and Related Utsorders nup:t/emeuu.:ult:.IlleU!SI;i:ljJC.IoMllliC1l U'-'UO/ >..<.U I V"'--V Y'-'' • '"' •• •• •·-·,\. ,. Metab. Jun 6 2011;[Medline]. 51. Haddad JG, Matsuoka LY, Hollis BW, Hu YZ, Wortsman J. Human plasma transport of vitamin D after its endogenous synthesis. J Clin Invest. Jun 1993;91 (6):2552-5. [Medline]. [Full Text]. 52. Holick MF, Chen TC. Vitamin D deficiency: a worldwide problem with health consequences. Am •• J Clin Nutr. Apr 2008;87(4):10805-65. [Medline] . 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 •• •• •• •• •• •• •• •• •• •• •• •• •• •• •:2 1/3112013 11:18 A; •• _mm u More Common m uvJrweight Kids http:/1children.webm About the AAP > AAP Press Room > Kids and Vitamin D Deficiency Advanced Searc p •• AAP Facts Departments & aaa print email share AAP MEDIA CONTACTS AAP Department of Communications Phone: 847-434-7877 •• Divisions Email: commun@aap.org Committees, Councils & Sections Kids and Vitamin D Deficiency · AAP Department of Federal Affairs •• Chapters & Disbicts 10118/2012 Phone: 202-347-8600 AAP Press Room Email: kids1st@aap.org Press Room Archive For Release: October 17, 2012 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 '-·.u V lli:Ulllll U Ut;ll\;U:;U\;J J.J.LLj-'.1/ YY YY YYeUU}'•VJ.5'"'.LL·u~IUVV-&. ....._._ .... --t"....,_t' 1"... ..,..._,.._. • ...,...,......... t"-0 -._.,_...._ .. _ -• ••-· -·•••• 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 •• Practice Support Pedialink/Online Education AAPPolicy GototheAAP AAP Facts Clinical Support Maintenance of Certification Federal Advocacy Bookstore Departments & AAPPolicy Continuing Medical Education State Advocacy Clinical Divisions Publications Publications Committees, •• Research Community Advocacy Education in Quality Improvement for l..ife Support Councils & Sections Journals.& Publications ·. J>e vl-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." ENTER to win a monthly Room Makeover Giveaway from MyHome/deas.com 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 . 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Ricketts or Vitamin D deficeincy can there be a Genetic Link - JustAn.swer Page 1 of2 ,.••,. , 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: $45 •• Septernber 8 2009 at 10:24 PM (10 minutes and 24 seconds iater) •• Thanks for your important and interesting question. I would say that as we know that in rickets there is weakening of bones and muscles due to !ack of vitamin D and/or calcium. Yes there is linkage in a rare type of rickets. There is a type in rickets caHed familiai •• hypophosphatemic rickets which is a rare disease to have and mostiy transmitted as an X- !inked dominant trait, and mutations on the phosphate regulating gene X-chromosome (PHEX) gene are responsible for the disease. Similarly, two hereditary defects related to vitamin D •• metabonsrn map tc human chromosome 12q13-14. There ~sa need for more stud~es to be done and trials are going orL •• Do .A.CCEPT the answer if you find it ·usefui in this way I rnight get cornpensated for rny vvorK and time here. Bonuses and positive feedback vv-Hi be appreciated . •• Best of !uck and keeo in touch Regards DL ,Arr1lr Javed •• Edited by Qr_ Amir on September 8 2009 at 10:42 ~f"'l Dr. Amir (Offline) -· Doctor -- 100°/0 Positive Feedback on 1297 Medical ·-·..... ;; CU$i0MfR'cS •• Accepts fv1BBS, Master of Interna! medicine & Gastroenterology w1th three years of experience (london) ..!. CHOKE AWARD •• •• •• Ricketts or Vitamin D deficeincy can there be a Genetic Link - JustAnswer Page 2 of2 •• •• Your Reply Edit September 8 2009 at 10:58 PM (33 minutes and 33 seconds later) •• where do we get testing? 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To see what credentials have been verified by a third-party service, please click on the "Verified" symbol above . ••• Question List - Become an Exoert - Terrns of Service - Securitv & Pnvacv - About Us •• (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;
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 . .•• \ •• •• -6- •
Document Info
Docket Number： WR-83,899-01
Filed Date： 10/26/2015
Precedential Status： Precedential
Modified Date： 9/29/2016