Analysis Of Alstrom Syndrome The number indicates the strength of association to alstrom syndrome . The pointsto the related MeSHD terms. Follow the green arrows to navigate MeSH-C http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U7840
References For Alstrom Syndrome With The MeSH Term Retinal References for alstrom syndrome with the MeSH term Retinal Degeneration, G2D Home.PMID and date. Follow the link to see the corresponding entry by PubMed http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Retinal_Degeneration
Extractions: Endocrine Abstracts previous abstract next abstract Abstract Type 2 diabetes in Alstrom syndrome: Targeting insulin resistance with a thiazolidinedione S Nag , WF Kelly , M Walker Department of Diabetes and Endocrinology, James Cook University Hospital, Middlesbrough, UK; Department of Diabetes and Metabolism, University of Newcastle, Newcastle upon Tyne, UK. Alstrom syndrome is an autosomal recessive disorder characterised by obesity, sensorineural deafness, cone-rod dystrophy and hypergonadotrophic hypogonadism. Diabetes in these patients is characterised by severe insulin resistance. We describe the management of diabetes in a 28 year old male patient with Alstrom syndrome and severe insulin resistance. Obesity developed early in childhood and at 3 years weight was 22.2 kg. Genetic studies revealed that the patient is a compound heterozygote, with a frameshift mutation and translocation break point in the paternal and maternal alleles, respectively of the ALMS1 gene. Diabetes was diagnosed at age 14. Islet cell antibodies were negative. Peripheral insulin resistance was assessed by the hyperinsulinaemic isoglycaemic clamp technique.Insulin sensitivity, expressed as the glucose infusion rate [M value] was 48mg/m /min.Mean M values for a similar group of moderately obese subjects was 80 mg/m
Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link 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 ZUMSTEG, U. Articles by MISEREZ, A. R Related Collections Genetics J Med Genet e8 ( July ) E DITOR et al in 1959 as a combination of atypical retinal degeneration, obesity, diabetes mellitus, and neurogenic deafness. Since this first report, further features of the syndrome have been described, including hypertriglyceridaemia, hepatic dysfunction, hyperuricaemia, slowly progressive chronic nephropathy, hypothyroidism, male hypogonadism, androgenetic alopecia, growth retardation
Extractions: Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Charles, S. J. Articles by Clark, P. Journal of Medical Genetics, 1990, Vol 27, 590-592 SJ Charles, AT Moore, JR Yates, T Green and P Clark
Geneticalliance.org alstrom syndrome Support Groups Alstrm Syndrome International 14 WhitneyFarm Road Mt. Desert, ME 4660 Phone 207.244.7043 Fax 207.288.6078 http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t
GEMdatabase - Selected Title TITLE, alstrom syndrome. DESCRIPTION, This review focuses on the diagnosis,management, and genetic counseling of patients and families with Alström http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=825
Extractions: Vol. 165 No. 6, March 28, 2005 Featured Link E-mail Alerts Original Investigation Article Options Full text PDF Send to a Friend Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Marshall JD Nishina PM Articles that cite this article Contact me when this article is cited Topic Collections Genetics Genetic Disorders Topic Collection Alerts Jan D. Marshall, BA Roderick T. Bronson, DVM Gayle B. Collin, MS Anne D. Nordstrom, PhD Pietro Maffei, MD, PhD Richard B. Paisey, MD Catherine Carey, MD Seamus MacDermott, MD Isabelle Russell-Eggitt, MD Sarah E. Shea, MD Judy Davis, MD Sebastian Beck, MD, PhD Gocha Shatirishvili, MD Cristina Maria Mihai, MD Maria Hoeltzenbein, MD Giovanni Battista Pozzan, MD Ian Hopkinson, MD, PhD
Alstrom Syndrome alstrom syndrome. Use. genetic disorder. Use. retinitis pigmentosa. Use.syndrome. Send your comments to MultiTes. http://crisp.cit.nih.gov/Thesaurus/00018706.htm
Alström Syndrome - Genetics Home Reference What other names do people use for Alström syndrome? AlstromHallgren syndrome;alstrom syndrome. See How are genetic conditions and genes named? in the http://ghr.nlm.nih.gov/condition=alstromsyndrome
Extractions: Home What's New Browse Handbook ... On this page: This condition is rare; only about 300 people are known to be affected worldwide. Mutations in the You may also be interested in these resources, which are designed for healthcare professionals and researchers. See How are genetic conditions and genes named? in the Handbook. Where can I find general information about genetic conditions?
Alstrom alstrom syndrome. (See also DIABETES MELLITUS, KIDNEY DISEASE, RETINITIS PIGMENTOSA).alstrom syndrome Newsletter,. 1006 Howard Rd.,. Warminster, PA 18974 http://www.childhealthinfo.com/alstrom-syndrome.htm
Surgery Door - Support Groups alstrom syndrome UK was set up by two parents of affected children. The groupcombines its aim to reach all affected families in the UK with its desire for http://www.surgerydoor.co.uk/sg/detail.asp?Recno=26740358
Rare Diseases Terms - Office Of Rare Diseases Additional information about alstrom syndrome is available from.http//ghr.nlm.nih.gov/condition=alstromsyndrome. Last Reviewed Wednesday, June08, 2005 http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=5787
The American Journal Of The Medical Sciences - UserLogin alstrom syndrome (ALMS) is a very rare genetic autosomal recessive Alstromsyndrome is a rare disease that is due to a Mendelian recessive trait, http://www.amjmedsci.com/pt/re/ajms/fulltext.00000441-200405000-00031.htm
Gene Official Symbol ALMS1 and Name alstrom syndrome 1 provided by HUGO Gene Mutations in this gene have been associated with alstrom syndrome. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics
Alstrom alstrom syndrome (3) alstrom syndrome UK Support Group Home Pag EasternOphthalmic Pathology Society 1983 Index Family Village- alstrom syndrome http://www.xs4all.nl/~ritanila/alstrom.html
Rarest Illnesses Vex Parents - 07/01/04 With only 10 families in Canada affected by alstrom syndrome, there is littlechance they can solve many of the problems that face people with rare http://www.detnews.com/2004/health/0407/01/a10-200330.htm
Extractions: Get Home Delivery TORONTO Eight-year-old Palmer Douglas was a toddler when he was diagnosed with a life-threatening disorder so rare that only about 250 cases have been identified worldwide. Against unbelievable odds, both his parents, Randy and Kim, carry a copy of an extremely rare recessive gene that causes Alstrom syndrome. Palmer inherited both copies, and as a result he is prone to obesity and susceptible to diabetes, heart and kidney failure and liver disease. Some with this disease die in their teens or early adulthood; most progressively lose their vision throughout their childhood.
