The Most Attractive Hyderabad Call Girls Kothapet 𖠋 9332606886 𖠋 Will You Mis...
Alström syndrome
1. Alström syndromeClinical studies and research R B Paisey on behalf of: National clinical advisory Group Alström syndrome UK Cardiology,endocrinology,vascular medicine, biochemistry, radiology, dietetics, respiratory medicine, urology,audiology, orthopaedics and rheumatology.
2. National Clinical Advisory Team Major organ transplantation Rare disease diagnosis and treatment “ EU Rules” Alström UK
3.
4. Alström Syndrome Carl Henry Alström 1959 Deaf blind syndrome Preserved intelligence Obesity Insulin resistance Type 2 diabetes ? 30 in world-now 600+
10. Alström syndrome location of the gene The ALMS1 gene is located on the short (p) arm of chromosome 2 at position 13. More precisely, the ALMS1 gene is located from base pair 73,612,885 to base pair 73,837,045 on chromosome 2
15. The cilium in the eye Found inside photoreceptors “Connecting cilium” Connects inner segment to outer segment Carries proteins made in the inner segment, to outer segment Malfunction stops transport of vital proteins, photoreceptors die
18. Alström Syndrome Further features identified: Congestive heart failure secondary to cardiomyopathy Sensorineural hearing loss Short stature / advanced bone age / scolosis Progressive, chronic nephropathy Liver fibrosis
19. Check list for exclusion of Alström syndrome in visually impaired young people
20. Alström Syndrome is one of many “ciliopathies” Primary Cilia Dyskinesia (PCD) Polycystic Kidney Disease (PKD) Joubert Syndrome (JS) Orofaciodigital Syndrome type I (OFD1) Meckel-Gruber Syndrome (MKS) Laurence-Moon-Bardet-Biedl Syndrome (LMBBS/BBS) In most cases there is blindness, kidney disease, obesity In all cases it is thought that the cilium is not working, in a number of organs
22. Overview of studies in AS But:- Cardiomyopathy, diabetes, lipid disorders,liver, kidney, waterworks problems are variable in extent. Suggests influence of other genetic and environmental factors:- Are these modifiable?
26. Overview of studies in AS Metabolic treatments Control of diabetes Control of serum lipids Testosterone Thyroxine Diet and exercise Early detection of major organ damage Kidneys Heart Liver Musculoskeletal urological
27. Alström syndrome Tertiary prevention: Control diabetes low carb,Metformin,incretin Control lipids-Niaspan Slow heart and renal failure Detect liver fibrosis early Treat hormone deficiencies Refine audiology intervention
28. A hopeful sign Neuropathy-amongst 58 Alström subjects with up to 25 yrs of diabetes none had neuropathy compared with young onset non- genetic type 2 diabetic subjects who had 30% neuropathy and 16% foot ulceration.
32. Procedure for Producing Inducible Pluripotent Stem Cells from a Small Punch Skin Biopsy Freeze and Store Freeze and Store Liver Cells Heart Cells Muscle Cells Nerve Cells Many more... Skin biopsy: LA 4mm biopsy 10 mins Pluripotent Stem Cells Cultured Dermal Fibroblasts
33. Alström syndrome ?Hope for the future Genotype phenotype correlation Reprogramming of cells in culture to assess cause of dysfunction Correction of cell defect and transplantation of cardiomyocytes. Insight into more common diabetic, cardiac, hepatic and renal disease.
34. Staff involved Alstrom adult clinics 1998 to 2008 AS UK: Torbay Hospital: Kay Parkinson Cathy Carey Mary Costelloe John Parkinson Richard Paisey Claire Rockett Kevin Goodwin Lee Dobson Kimberley Vogler Sean Waiting Jamie Smith Chrissie Rowe Charlotte Parkinson Kathleen Williams Mark Clemence Kerry Leeson Debbie Hodge Kirsten Mackay Mike Hales Lynne Bower Sue Bunce Mark McCarthy Alison White Sarah Mills Richard Seymour
Hinweis der Redaktion
With the benefit of follow-up of up to 10 years in many of these patients, it has been possible to show that all patients have some abnormalities of their heart, but many remain stable , with normal exercise tolerance. 25% have shown progression , of whom six of the seven have died from heart failure.4 of 21 of those with stable heart function have died of chest infection. Add textbox showing key numbers .
