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Filter by:In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome will provide important insights into the more complex type 1 and type 2 diabetes mellitus. Aim 1. Establish and maintain a registry of patients with Wolfram syndrome. An Internet based registry will be employed to enroll participants with the clinical diagnosis of Wolfram syndrome (insulin dependent DM and bilateral OA). Clinical information regarding age of diagnosis and progression of the disease will be collated and analyzed to better define its natural history, along with potential metabolic phenotypes such as glucose intolerance of heterozygous parents and unaffected sibs. If not already completed, blood for WFS1 sequence analysis will be obtained on the participants (parents and sibs also for control purposes) and sent to a CLIA certified lab to define the mutation. This information will benefit patient families and referring physicians by providing a genetic diagnosis and where indicated. The Wolfram Syndrome Registry will foster international collaborations to more efficiently and systematically collect Wolfram syndrome patients and their clinical and experimental data.
INTRODUCTION Carpal tunnel syndrome (CTS) is a common condition that results in impaired hand function. In cases of CTS the "pinch grip" force between the thumb and index finger becomes unnecessarily high to prevent objects from slipping when they are picked up. HYPOTHESES The proposed study will investigate the following hypotheses regarding CTS. As an object is picked up, the investigators suspect there will be several points at which grip force will be different between patients with different severities of CTS, i.e. grip may deteriorate as CTS gets worse. The investigators also suspect grip force will be affected depending on the weight of the object, i.e. patients with CTS may struggle with objects of a certain weight. Patients with CTS sweat less, and this may affect their grip. The investigators suspect that pinch grip in CTS patients is disproportionately altered by the frictional properties of the object and by the moistness of the skin. The investigators suspect patients with CTS will be less able to adapt to sudden changes in an object's weight. The investigators wish to examine how the above are affected after surgical treatment of CTS. METHODS The investigators will include patients with symptomatic, idiopathic CTS, aged between 18 and 80 years. The investigators' centre will recruit CTS patients who will attend their National Health Service (NHS) outpatient appointment followed by nerve conduction studies. An equal number of healthy participants will be recruited for comparison purposes. At the aforementioned appointment, patients will undertake a pinch grip force test using a device that will test the above points. Patients will have normal care under their surgeon, which may include an operation for treatment of CTS. Therefore some patients will be invited back to have grip tests again after their operation. No aspect of the study will prevent a patient from receiving their normal National Health Service (NHS) care.
Prader-Willi Syndrome (PWS) is a rare syndrome with a prevalence of 15 to 20 000 at birth. PWS represents a large fraction of mental retardation syndromes due to a genetic cause and the most frequent cause of genetic obesity. The majority of the patients are seen by paediatricians. This syndrome is responsible for severe physical, psychological and social impairments. The diversity and the severity of the manifestations of this disease explain the requirement of multidisciplinary care which deserve specific evaluation. Today the follow-up and management of a great proportion of these patients are greatly insufficient if not absent. Teams strongly lack information on the natural history of this severe disease and on the factors involved in its evolution and the outcome of these patients throughout life. The present project is to implement a register in the whole country for children and adult patients
This is a multicenter, double-blind, parallel-group, placebo-controlled, study to assess the efficacy, safety, and pharmacokinetics of ZX008 when used as adjunctive therapy in pediatric and young adult subjects with Dravet syndrome. Subjects who qualify for the study will be randomized (1:1:1) in a double-blind manner to receive 1 of 2 doses of ZX008 or placebo. All subjects will be titrated to their randomized dose over a 14-day Titration Period. Following titration, subjects will continue treatment at their randomly assigned dose over a 12-week Maintenance Period. Total treatment time from the beginning of the Titration Period through the end of the Maintenance Period is 14 weeks.
1. To test the effectiveness of the theory-based interventions (text+visual and text-only BCT-based interventions) against usual care in changing patients' intentions to phone ambulance immediately with symptoms of ACS ≥ 15 minutes duration. 2. To determine the most effective mode of delivery by comparing the text+visual BCT-based intervention with text-only BCT-based intervention. 3. To investigate any unintended consequences of the intervention on intentions to phone an ambulance for non-life-threatening symptoms.
Medical researchers of National Heart Centre Singapore will carry out a state-of-the-art study that examines the possibility of changing patients' own cells into multi-functional and potent stem cells called iPS cells. These iPS cells can subsequently give rise to functional cardiac cells (myocytes) and other cardiovascular cells which might give further clues into the manifestation of the structural heart disease. This study involves blood sample collection for pre-screening and skin biopsies to establish skin cell culture.
The proposed trial will evaluate the effect of aspirin 300 mg/d and 100 mg/d during 4 years vs placebo, in a 4 groups randomised parallel design in Lynch syndrome patients: patients with proven carriers of pathological mutations in mismatch repairs genes and patients with personal and family history characterizing Lynch syndrome according to modified Amsterdam criteria without proven mutation, aged more than 18 years with signed informed consent. The main hypothesis to be tested is that aspirin could decrease colorectal adenoma recurrence evaluated during high quality follow-up by colonic chromo-endoscopy in Lynch syndrome patients. The trial will also explore: (i) colorectal neoplasia recurrence according to different germline alteration in mismatch repair genes, (ii) observance to chemoprevention in Lynch syndrome patients, (iii) the burden of adverse events attributable to aspirin in Lynch syndrome patients, (iv) the dose-effect of aspirin on adenomatous polyp burden. All pathological samples will be reviewed using a centralized procedure. The INCA regional network organization and the HNPCC patient organization will allow the recruitment and the follow-up of a large number of patients with well characterised Lynch syndrome.
The primary aim of the current study is to clarify whether serum vitamin D levels [25(OH)D3] have a temporal association with insulin resistance and/or insulin sensitivity in PCOS women versus healthy ones. To achieve this aim, the investigators will conduct a prospective observational study involving obese and lean PCOS women in comparison to obese and lean healthy subjects living in Cairo, Egypt.
Randomized, placebo controlled clinical trial that evaluate the role of taking metformin therapy during pregnancy in women with polycystic ovarian syndrome(PCOS) in reducing the development of gestational diabetes(GDM) and improving pregnancy outcomes.
Observe validity of Recombinant Human Growth Hormone Injection assisted in IVF-ET (in vitro fertilization and embryo transfer) treatment of PCOS (polycystic ovary syndrome) patients.