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Filter by:The investigators laboratory has been studying families with a history of ALS for more than 30 years and is continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular disorders. The purpose of this study is to identify additional genes that may cause or put a person at risk for either familial ALS (meaning 2 or more people in a family who have had ALS), sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and treatment. As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. This includes all forms of ALS, motor neuron disease and ALS with fronto-temporal dementia(ALS/FTD). We also continue to study other forms of neuromuscular disease such as Miyoshi myopathy, FSH dystrophy and other forms of muscular dystrophy by looking at the genes that may be associated with them. There have been a number of genes identified that are associated with both familial and sporadic ALS, with the SOD1, C9orf72, and FUS genes explaining the majority of the cases. However, for about 25% of families with FALS, the gene(s) are still unknown. The investigators also will continue to work with families already identified to carry one of the known genes associated with ALS.
Osteochondritis dissecans is a relatively common...
The purpose of the research is to identify mutations (defects in the genetic blueprint) that cause spontaneous coronary artery dissection (SCAD), in other words, spontaneous tears in blood vessels that supply the heart. Some mutations may be inherited (passed on) from a parent without an apparent blood vessel problem while others may develop for the first time in the affected person.
The aim of this study is the comparison between the effects of supplementation with 25000 IU preformed vitamin A (retinyl palmitate) or placebo for first 6 months and 10000 IU/day for next 6 months on disease activity and progression in patients with Multiple Sclerosis.
The purpose of this study is to improve fusion (bony healing) techniques and improve patient recovery by identifying cells in your body that make bone. Patients with spine problems often need surgeries that include fusion (bony healing) of vertebrae (bones in your back) together in order to hold the bones steady allowing them to heal together (fusion). If the vertebrae (back bones) fail to heal together, which occurs about 10-15% of the time, it can result in a slower recovery and may require revision (another) surgery. By using a small portion of the graft taken during surgery the investigators hope to define the cells that make bone most efficiently. This will help reduce the need for revision surgeries and improve patient recovery.
The aim of this study is the comparison between the effects of supplementation with vitamin A (retinyl palmitate) or placebo for 6 months on gene expression of T CD4+ lymphocyte in multiple sclerotic patient.
The objective of this study is twofold: First, to determine whether higher levels of pre-operative psychological distress predict worse outcomes after arthroscopic rotator cuff repair; second, to obtain functional outcomes (VAS pain, VAS satisfaction, VAS function, Simple Shoulder Test (SST) and American Shoulder and Elbow Surgeons (ASES) Score), physically examine and perform a radiographic analysis of patients at a minimum of 6 months after reverse total shoulder arthroplasty, total shoulder arthroplasty, arthroscopic scapulothoracic bursectomy, acromioclavicular joint reconstruction and arthroscopic rotator cuff repair.
This is a post-marketing study to verify the clinical benefits of VIGIV [CNJ-016, Vaccinia Immune Globulin Intravenous (Human), sterile solution] in the resolution of complications resulting from smallpox vaccination in eligible patients treated with VIGIV.
The purpose of this study is to compare the vaginal sacrospinous colpopexy and high uterosacral colpopexy in the treatment of genital prolapse grade III/IV in women with uterus.
EV71 has caused large epidemics with lots of fatal cases and cases with sequelae. However, the clinical syndromes and severity of the same EV71 strain are very diverse, ranging from asymptomatic (71%) to fatal (0.05%) disease, and the pathogenesis remains unknown. In addition, the severe or fatal case incidence varies significantly differently in different areas of Taiwan. Although some viral virulence studies were performed, no clear viral virulence factor has been found. Therefore, host factors may be important to the clinical outcomes of EV71 infections. In addition, there were significantly different incidences of severe or fatal cases in different areas of Taiwan, for example, significantly more fatal or severe cases occurred in the central or southern Taiwan in comparison with in northern Taiwan. Whether this is related to host factors, social, behavioral or environmental factors remains unanswered. To find the most important factors associated with EV71 susceptibility, a thorough study involving genetics, social, behavioral or environmental factors among different areas of Taiwan is warranted and the findings will provide future prevention of EV71 and give help on early precaution and treatment of EV71.