View clinical trials related to Syndrome.
Filter by:The Wiskott-Aldrich Syndrome (WAS) is an inherited disorder that results in defects of the blood and bone marrow. It affects boys because the genetic mistake is carried on the X chromosome. Normal people have blood cells called platelets that stop bleeding when blood vessels are damaged. Boys with WAS have low numbers of platelets that do not function correctly. Boys with WAS are thus at risk for severe life-threatening bleeding. A normal immune system is made of special blood cells called white blood cells, which protect against infection and also fight certain types of cancer. In WAS, these white blood cells don't work as well as they should, making these boys very susceptible to infections and to a form of blood cancer known as lymphoma. The abnormal white blood cells of patients with WAS also cause diseases such as eczema and arthritis. Although WAS can be mild, severe forms need treatment as early as possible to prevent life-threatening complications due to bleeding, infection and blood cancer. Over the past decade, investigators have developed new treatments based on the investigators knowledge of the defective gene causing WAS. The investigators can now use genes as a type of medicine that will correct the problem in the patient's own bone marrow. The investigators call this process gene transfer. The procedure is very similar to a normal bone marrow transplant, in that the old marrow is killed off using chemotherapy, but is different because the patient's own bone marrow is given back after it is treated by gene transfer. This approach can be used even if the patient does not have any matched donors available and will avoid problems such as GVHD and rejection. The investigators wish to test whether this approach is safe and whether gene transfer will lead to the development of a healthy immune and blood system.
Ovarian insufficiency is common in Turner syndrome related to premature and rapid follicular apoptosis and spontaneous pregnancies are rare in this population. Ovarian cryopreservation has been used in an effort to preserve fertility in patients undergoing treatments which lead to premature and severe ovarian insufficiency. This study aims to assess the relevance of ovarian tissue cryopreservation in girls with Turner syndrome. Based on ovarian follicular density as primary outcome and karyotypic, clinical and hormonal markers as secondary outcomes, analysis of the study will allow to select the patients to whom the procedure would benefit the most.
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in reproductive age women. Women with PCOS have a high risk of prediabetes, type 2 diabetes and heart disease. The investigators have found a possible change in the DNA (genes of the body that encode all of our traits) that seems to be related to insulin resistance. In this study, the investigators will try to determine whether the change in the gene affects a woman's ability to respond to a common treatment for PCOS, metformin. These studies will uncover the change in a gene that might be one of the causes of PCOS. Discovering this gene will help better understand the diabetes and insulin abnormalities that are common in PCOS and will help us to better diagnose and treat PCOS to prevent the diabetes in these women.
West syndrome (WS) is a specific type of epilepsy (or seizure disorder) that has three features: infantile spasms (type of seizure), loss of milestones, and a specific pattern on electroencephalogram (EEG or brain wave test) called hypsarhythmia. The purpose of this study is to detect pre-hypsarhythmia in infants at high-risk for WS and determine whether treatment with ACTH will prevent WS.
The purpose of this study is to determine whether 7-valent pneumococcal conjugate vaccine safely induces immune responses and immunological memory in children with idiopathic nephrotic syndrome in remission.
The purpose of this study is to measure the effect of ranolazine on ETT (exercise treadmill test) exercise duration in four ethnic subgroups with established coronary artery disease and risk factor(s) for the metabolic syndrome: Caucasian, African American, Southeast Asian and East Indian.
High density lipoproteins (HDL) have many effects that protect against cardiovascular diseases. In an acute heart attack (acute coronary syndrome -ACS), HDL change in composition and structure, reflecting the inflammatory environment that accompanies an ACS. The investigators will examine the function of HDL during an ACS and again when the patient has recovered.
Metabolic syndrome is a combination of medical disorders that increase the risk of developing cardiovascular disease and diabetes. The exact mechanisms of the complex pathways of metabolic syndrome are not yet completely known. The pathophysiology is extremely complex and has been only partially elucidated. Most patients are older, obese, sedentary, and have a degree of insulin resistance. Stress can also be a contributing factor. The most important factors are: weight, genetics, aging, sedentary lifestyle,excess caloric intake. In our study we will assess the role of some polymorphisms in the pathology of metabolic syndrome.
- The purpose of this study is to determine the natural course of IOL in PXF, - To demonstrate use of a clinical grading system for PXF, - To strategize a way to prevent IOL dislocation, subluxation post operatively, - To demonstrate intraoperative and long-term post-operative complications associated with phaco and PXF - To suggest evidence-based ways to minimize these complications, by using capsular tension rings (CTR), specific IOL material or size
During the 2009-2010 immunization campaign against pandemic H1N1, some people reported having allergic-like reactions (anaphylaxis(a shock-like reaction), hives, swelling, etc.). A vaccine allergy may be more or less severe or intense. Patients may have skin reactions (rash with or without itching), respiratory problems (cough, spasm of the airways), angioedema (swelling) of various body parts (face, eyelids, throat etc.) and circulatory problems (low blood pressure or shock). Anaphylaxis is a severe allergic reaction that can sometimes be fatal. Other people vaccinated against pandemic H1N1 had an oculo-respiratory syndrome. Oculo-respiratory syndrome (ORS) is also a reaction to the influenza vaccine, which includes symptoms such as bilateral conjunctivitis (red eyes) with swelling of the face or respiratory symptoms (chest tightness, coughing, a sensation of throat closure, difficulty swallowing, hoarseness, wheezing or difficulty breathing). The investigators know that ORS is not a true allergic reaction. Because many signs and symptoms of ORS are similar to those observed during an allergic reaction, it is often difficult to distinguish ORS from an allergic reaction. This study will compare three groups of patients: those who had allergic-like reactions, those who had ORS and vaccinated individuals who had no such adverse events. Pregnant women cannot participate in this study. The study has three goals. First, the investigators want to determine, among those who had allergic-like reactions after influenza vaccination, what proportion (percentage) of these people are actually allergic to the vaccine or its components. Second, among those who are not allergic to the vaccine, which other processes may have caused these symptoms. Finally, the investigators will try to identify whether there are features that distinguish patients who have a true allergic reaction from those affected by ORS, and those that had no adverse events.