UD Biological Sciences - Nemours: Dr. Vicky L. Funanage of Delaware) Studying the genetics of barth syndrome and spinal muscular atrophy.Also conducts diagnostics for barth syndrome, spinal muscular atrophy, http://www.udel.edu/bio/nemours/people/vfunanage.html
Extractions: Postdoctoral: Alfred I. duPont Hospital One area of interest concerns children afflicted with neuromuscular disease. Ongoing research conducted in Dr. Funanage's laboratory (Musculoskeletal Inherited Disease Laboratory [MID]) involves several projects designed to provide benefit to these children. The first involves the use of the compound hemin as a possible treatment for muscular dystrophy. Past research has shown that hemin increases the expression of muscle-specific genes and decreases the fibrosis associated with muscular dystrophy. In work conducted in the dystrophic dog model, intravenous administration of hemin showed positive trends in improving muscle strength; however, further work showed that very little of the administered hemin was reaching skeletal muscle. Together with Dr. Tatiana Samoylova of Auburn University, the MID laboratory is working on a novel method that is expected to increase the delivery of hemin to muscle tissue. The second area of interest involves spinal muscular atrophy, the second most common genetic cause of muscle weakness and wasting in children. This research, done in collaboration with Dr. Mena Scavina, Division of Neurology at Alfred I. duPont Hospital, has revealed increased expression of a protein called RAD (for ras associated with diabetes) in cells of spinal muscular atrophy patients. Overexpression of RAD has been shown to inhibit glucose uptake into tissues, providing a possible explanation for the muscle wasting and weakness seen in this disease. Therapeutics for spinal muscular atrophy are, thus, focusing on ways to decrease expression of RAD, particularly in skeletal muscle.
Extractions: Family hopes to raise awareness of rare disorder Sandy Poitras: Special Published: Wed, Jul 27th, 2005 Ryan Ritter is a bright, quick-witted and popular 14-year-old, who, like most of his friends, is currently enjoying the lazy days of summer and not thinking very much about the inevitable return to school this fall where he will enter Grade 8 at Baxter Central Public School. You'll find him hanging out at the cottage, fishing, swimming, visiting with friends, or hosting the occasional bonfire at his family's house in Utopia. Other than the fact he cannot physically exert himself very much, and the dose of digoxin he takes every day for his heart, he's a pretty ordinary teenager. Yet Ryan has an extraordinary story to tell. And it is hoped that through his story and the stories of boys like him, awareness will be raised about a rare but serious genetic disorder that has been snuffing out the lives of infant boys all over the world, regardless of race and denomination. The disorder is called Barth Syndrome, named after Dr. Peter Barth, a pediatric neurologist from The Netherlands who was the first to publish detailed findings of the syndrome back in 1981. It is an X-linked recessive genetic condition, meaning it can be transferred from mother to son.
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June 14, 2002 -- SSTI Weekly Digest Funding Supplement barth syndrome Foundation; Community Technology Fund of Ohio The barth syndromeFoundation serves to help find a cure for barth syndrome and to educate http://www.ssti.org/Digest/2002/Supplements/061402supplement.htm
Health Library - 12.42.224.150/library/healthguide/enus/SelfHelp/t Research Matters at UGAbarth syndrome Foundation, Inc. (BSF) - is pleased to announce the availabilityof funding for research on the natural history, biochemical basis, http://12.42.224.150/library/healthguide/en-us/illnessconditions/topic.asp?hwid=
Barth Syndroom Nederlandse pagina van de Internationale barth syndrome Foundation.Met contactadres van de Nederlandse afdeling van de barth syndrome Trust. http://www.erfelijkheid.nl/zena/barth.php
Extractions: Het Barth syndroom is een aangeboren en erfelijke stofwisselingsziekte. Het wordt veroorzaakt door een enzym dat niet meer functioneert. Daardoor wordt er te weinig energie in de spieren gemaakt. De aandoening openbaart zich meestal in de jeugd. Het komt vrijwel alleen voor bij jongens. Het Barth syndroom veroorzaakt spierzwakte, ook van de hartspier. De spierzwakte veroorzaakt algehele vermoeidheid, bijvoorbeeld bij het lopen, maar ook bij schrijven of tekenen. Een ander kenmerk van het Barth syndroom is een verminderde weerstand. Dit komt door een tekort aan witte bloedlichaampjes. Nog een kenmerk is het uitscheiden van bepaalde zuren in de urine. En jongens met het Barth syndroom groeien minder snel. De ziekteverschijnselen nemen niet toe, maar goede en slechte periodes wisselen elkaar af. In slechte periodes komen vaak misselijkheid, braken en diarree voor. In periodes van stress of tijdens een groeispurt zijn de ziekteverschijnselen heviger. Als de diagnose Barth syndroom vroeg gesteld wordt, kan het hartprobleem goed worden behandeld. De overlevingskans in de eerste jaren is dan 85-90%. Wordt de diagnose niet op tijd gesteld dan is de overlevingskans in de eerste jaren 30%.
Extractions: This is a study that began in the 1997-98 school year. A group of kindergartners was enrolled and followed annually through fifth grade. Because this is a longitudinal study, we are not recruiting participants. We will continue following this group as long as possible. We plan to recruit a new cohort for a screening and intervention study. In this component of the study, we are addressing whether young girls with fragile X syndrome are at risk for math learning disability, and whether there are specific aspects of mathematical achievement that are difficult for girls with this disorder. We are including, in our research, only girls who have the fragile X full mutation. We know from other studies of older girls and adult females with fragile X that math seems to be an area of difficulty. We are exploring whether this is the case for younger girls. We are recruiting girls who are ages 5 to 10 years, who have fragile X, and who are in kindergarten, first, second, third or fourth grade. For more information about the fragile X syndrome, you can browse titles of our manuscripts on fragile X, visit the
VSN: Nieuws Dit wordt georganiseerd door de barth syndrome Trust in samenwerking met het Emma De barth syndrome Foundation geeft een internationale nieuwsbrief uit, http://www.vsn.nl/onderzoek/nieuws.php?diagnose_id=0&nieuws_id=500
TAZbase Mutation Publications A novel mutation in the G4.5 (TAZ) gene in a kindred with barth syndrome. barth syndrome clinical observations and genetic linkage studies. http://bioinf.uta.fi/TAZbase/tazpubs.html
Health Library - The barth syndrome Fdn. PO Box 974 Perry, FL 32348 CALL 850223-1128 (Voice/Fax)E-MAIL info@barthsyndrome.org WEBSITE http//www.barthsyndrome.org http://www.covenanthealth.org/library/healthguide/en-us/SelfHelp/topic.asp?hwid=
Extractions: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Ichida, F. Articles by Towbin, J. A. Related Collections Myocardial cardiomyopathy disease Genetics of cardiovascular disease Circulation. Fukiko Ichida, MD Shinichi Tsubata, MD Karla R. Bowles, PhD Noriyuki Haneda, MD Keiichiro Uese, MD Toshio Miyawaki, MD W. Jeffrey Dreyer, MD John Messina, MD Hua Li, PhD Neil E. Bowles, PhD Jeffrey A. Towbin, MD Correspondence to Jeffrey A. Towbin, MD, Department of Pediatrics (Cardiology), Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030. E-mail
Extractions: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Ichida, F. Articles by Towbin, J. A. Related Collections Myocardial cardiomyopathy disease Genetics of cardiovascular disease Circulation. Fukiko Ichida, MD Shinichi Tsubata, MD Karla R. Bowles, PhD Noriyuki Haneda, MD Keiichiro Uese, MD Toshio Miyawaki, MD W. Jeffrey Dreyer, MD John Messina, MD Hua Li, PhD Neil E. Bowles, PhD Jeffrey A. Towbin, MD Correspondence to Jeffrey A. Towbin, MD, Department of Pediatrics (Cardiology), Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030. E-mail Background result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including isolated left ventricular noncompaction (LVNC), as well as Barth syndrome
Euromit 4: Submitted Abstract A case of barth syndrome with massive 3methylglutaconic and 3-methylglutaricaciduria. EA Nikolaeva, IV Leontieva, V. Semenov, T. Chentsova, IA Sebeleva, http://www.gen.cam.ac.uk/euromit/abs/nikolaeva.html
Extractions: X-linked mitochondrial Barth's cardioskeletal myopathy with neutropenia has been delineated in 1983. We observed a boy 6 years old with this disease. The syndrome manifestations included: severe growth deficiency, mild retardation of psychomotoric development, myopathy, hypertrophic non-obstructive cardiomyopathy (echo enddiastolic septal wall thickness - 11,8 mm, the normal value is 5,5-6 mm), neutropenia ( <900/mm3), recurrent hypoglycaemia 2.0 mmol/l, hyperlactatacidemia 2.6 mmol/l (the normal value is 1.0-1.7). GC-MS analysis of organic acids revealed a marked increase of 3-methylglutaconic (two isomers), 3-methylglutaric acid excretion and moderate increase of 3-hydroxy-3-methylglutaric, fumaric, adipic acid excretion. Therapy with cytochrome C, coenzyme Q10, L- carnitine demonstrated significant clinical and biochemical efficacy. In 1,5 year echo enddiastolic septal wall thickness diminished to 6,5 mm (N). 3-Methylglutaconic, 3-methylglutaric acid excretion decreased 3 times. Excretion of 3-hydroxy-3-methylglutaric, fumaric, adipic acid disappeared.
Extractions: Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Ma, L. Articles by Greenberg, M. L. Lining Ma Frederic M. Vaz Zhiming Gu Ronald J. A. Wanders , and Miriam L. Greenberg From the Department of Biological Sciences, Wayne State University, Detroit, Michigan, 48202 and the Departments of Clinical Chemistry and Pediatrics, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands
