Wednesday, July 28, 2010
Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent Tamhankar PM, Phadke SR Neurol India
Tamhankar PM, Phadke SR Neurol India
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively studied three families (two Indian, one Nepalese) with 12 affected members (male:female-7:5). Mean age at onset of weakness was 17.63 + 5.48 years. Patients were classified according to muscle groups affected (F-face, S-scapula, H-humeral, PG-pelvic girdle, P-peroneal, A-loss of independent ambulation): FSH-A (2), four FSH (4), SH (3), FSH-PG (2) and one: F (1). Progression of weakness was classified as F>S>P>PG in eight cases, S> F>P in one, static in three. Eleven patients had electromyographic findings suggestive of myopathy and one had features of neurogenic involvement. Molecular diagnosis was done by southern blotting using probe p13E-11 after digestion of genomic DNA with EcoRI and/or EcoRI/BlnI for twelve patients and three unaffected relatives. No EcoRI fragment smaller than 35 Kb was seen in unaffected subjects. Size of EcoRI fragment varied between 17 kb to 27 kb in affected subjects and was constant for affected members of the same family. Molecular diagnosis by southern blotting has helped to provide genetic counseling for the families.
Friday, July 16, 2010
Learn more about the Registry at the University of Rochester.
Read their past newsletters & see how you might get involved in a study and help advance FSH research.
Thursday, July 15, 2010
Scientists develop new way to grow adult stem cells in culture
July 15, 2010
Researchers at the Stanford University School of Medicine have developed a technique they believe will help scientists overcome a major hurdle to the use of adult stem cells for treating muscular dystrophy and other muscle-wasting disorders that accompany aging or disease: They've found that growing muscle stem cells on a specially developed synthetic matrix that mimics the elasticity of real muscle allows them to maintain their self-renewing properties.
For Dr Lucy Burns, (MBBS 1993) supporting Monash research into Facioscapulohumeral muscular dystrophy (FSHD) is a cause close to her heart.
The President of the Victoria Branch of the FSHD Global Research Foundation and Monash medicine alumna is living with FSHD - the most common form of adult muscular dystrophy - and as an inherited disorder, there is a 50 per cent chance her children will grow up to develop the disease.
The foundation has donated $160,000 to Professor Christina Mitchell's team to analyse the levels and distribution of novel proteins that regulate muscle mass in human FSHD skeletal muscle samples, and to study muscle wasting in a mouse model of the disease.
Tuesday, July 13, 2010
Four main topics were discussed:
* Clinical management
* Clinical trial readiness
Read more at http://www.muscular-dystrophy.org/research/news/2481
Saturday, July 3, 2010
There are 21,625 registered medical marijuana patients in the state as of Oct. 31, 2009, according to the Colorado Department of Public Health and Environment, which is tasked by statute with issuing medical marijuana licenses.
Katy Klingbeil, 36, of Buena Vista, is one of those patients.
Klingbeil suffers from Facioscapulohumeral Muscular Dystrophy, FHS. The disease has caused her to lose muscle in her upper arms, shoulders, jaw and back.