کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10833562 | 1065796 | 2014 | 36 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Phenylketonuria Scientific Review Conference: State of the science and future research needs
ترجمه فارسی عنوان
کنفرانس بررسی علمی فنیلکتونوریا: وضعیت علمی و نیازهای پژوهشی آینده
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
BH4PKUGMPSIMDRecommended Uniform Screening PanelRUSPCOAAAVNIHBMDtetrahydrobiopterinGMDIDXACHDAHRQNICHDACMGLNAASapropterinSOEMaternal PKUFDAEPCPAHDRIODSPHEPALGenetic Metabolic Dietitians InternationalNDSICDEDHPRphenylketonuria - فنیل کتونوریAgency for Healthcare Research and Quality - آژانس تحقیقات و کیفیت بهداشت و درمانU.S. Food and Drug Administration - اداره غذا و داروی ایالات متحدهClinical outcome assessment - ارزیابی نتیجه بالینیdocosahexaenoic acid - اسید داکوزاگزوائونیکLarge neutral amino acids - اسیدهای بزرگ خنثیMRI - امآرآی یا تصویرسازی تشدید مغناطیسیIEM - ایامintelligence quotient - بهره هوشیCongenital heart disease - بیماری قلبی مادرزادیBone mineral density - تراکم معدنی استخوانMagnetic resonance imaging - تصویربرداری رزونانس مغناطیسیTyr - تیرTyrosine - تیروزینdual-energy X-ray absorptiometry - جذب اندازه گیری اشعه ایکس دوگانه انرژیInborn errors of metabolism - خطاهای متولد شده متابولیسمCNS - دستگاه عصبی مرکزیDHA - دوکوساهگزائنوئیک اسیدDihydropteridine reductase - دی هیدروپرتیدین ردوکتازcentral nervous system - سیستم عصبی مرکزیstart - شروع کنcommon data element - عنصر داده مشترکPhenylalanine ammonia lyase - فنیل آلانین آمونیاک لیائازPhenylalanine hydroxylase - فنیلالانین هیدروکسیلازPhenylalanine - فنیلآلانینStrength of evidence - قدرت شواهدNational Institutes of Health - مؤسسات ملی بهداشتDietary reference intake - مصرف مرجع رژیم غذاییHPA - میلی بار یا هکتوپاسکالHyperphenylalaninemia - هیپرفنیلالانینمیAdeno-associated virus - ویروس Adeno مرتبط استpolyethylene glycol - پلی اتیلن گلیکولPEG - پلیاتیلن گلیکول American College of Medical Genetics and Genomics - کالج ژنتیک و ژنتیک پزشکی آمریکاglycomacropeptide - گلیاکاکروپپتیدEunice Kennedy Shriver National Institute of Child Health and Human Development - یونیس کندی شریور موسسه ملی بهداشت کودک و توسعه انسانی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
چکیده انگلیسی
New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat some individuals with PKU, and to develop a research agenda. Prior to the 2012 conference, five working groups of experts and public members met over a 1-year period. The working groups addressed the following: long-term outcomes and management across the lifespan; PKU and pregnancy; diet control and management; pharmacologic interventions; and molecular testing, new technologies, and epidemiologic considerations. In a parallel and independent activity, an Evidence-based Practice Center supported by the Agency for Healthcare Research and Quality conducted a systematic review of adjuvant treatments for PKU; its conclusions were presented at the conference. The conference included the findings of the working groups, panel discussions from industry and international perspectives, and presentations on topics such as emerging treatments for PKU, transitioning to adult care, and the U.S. Food and Drug Administration regulatory perspective. Over 85 experts participated in the conference through information gathering and/or as presenters during the conference, and they reached several important conclusions. The most serious neurological impairments in PKU are preventable with current dietary treatment approaches. However, a variety of more subtle physical, cognitive, and behavioral consequences of even well-controlled PKU are now recognized. The best outcomes in maternal PKU occur when blood phenylalanine (Phe) concentrations are maintained between 120 and 360 μmol/L before and during pregnancy. The dietary management treatment goal for individuals with PKU is a blood Phe concentration between 120 and 360 μmol/L. The use of genotype information in the newborn period may yield valuable insights about the severity of the condition for infants diagnosed before maximal Phe levels are achieved. While emerging and established genotype-phenotype correlations may transform our understanding of PKU, establishing correlations with intellectual outcomes is more challenging. Regarding the use of sapropterin in PKU, there are significant gaps in predicting response to treatment; at least half of those with PKU will have either minimal or no response. A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment. New drugs that are safe, efficacious, and impact a larger proportion of individuals with PKU are needed. However, it is imperative that treatment guidelines and the decision processes for determining access to treatments be tied to a solid evidence base with rigorous standards for robust and consistent data collection. The process that preceded the PKU State-of-the-Science Conference, the conference itself, and the identification of a research agenda have facilitated the development of clinical practice guidelines by professional organizations and serve as a model for other inborn errors of metabolism.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 112, Issue 2, June 2014, Pages 87-122
Journal: Molecular Genetics and Metabolism - Volume 112, Issue 2, June 2014, Pages 87-122
نویسندگان
Kathryn M. Camp, Melissa A. Parisi, Phyllis B. Acosta, Gerard T. Berry, Deborah A. Bilder, Nenad Blau, Olaf A. Bodamer, Jeffrey P. Brosco, Christine S. Brown, Alberto B. Burlina, Barbara K. Burton, Christine S. Chang, Paul M. Coates, Amy C. Cunningham,