View clinical trials related to Syndrome.
Filter by:The purpose of this study is to examine the effects of walnut consumption on endothelial function and lipid markers in overweight patients with at least one factor of metabolic syndrome as compared to the control group.
Background: - Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that prevents the body from making enough cholesterol. People who have SLOS often need to take extra cholesterol, either in food or in supplements, for their bodies to work properly. Cholesterol is very important for the brain and nervous system. Therefore SLOS is highly related to autism, mental retardation, and other brain and nervous system disorders. Not much is known about how people with SLOS handle cholesterol and how taking extra cholesterol helps them. A long-term study of people with SLOS will help answer these and other questions. Objectives: - To study the effects of a high-cholesterol diet on people with Smith-Lemli-Opitz syndrome. Eligibility: - Individuals of any age who have Smith-Lemli-Opitz syndrome. Design: - Participants will have study visits up to two times in the first year and once a year every year after that. Each visit will last between 3 and 5 days. - Participants will be screened with a physical exam, medical history, and blood and urine tests. - Participants will provide regular blood, urine, stool, saliva, and skin cell samples for testing. - Participants will keep track of the foods they eat at home. During the study, they will eat a high-cholesterol diet at all times, except for the second study visit (3 to 6 months after the screening visit). That visit will involve a cholesterol-free diet for 4 weeks. - Participants will have special cholesterol tests with blood samples at different times during the study. - At different study visits, participants will have tests of mental and physical skills (including tests for autism). They will answer questions about their diet and food habits. They will also have hearing and eye tests, body and bone measurements, and imaging studies. Not all of the tests will be done at every study. - Participants will be allowed to leave the study at any time.
The purpose of this study is to evaluate the effects of long acting mesalamine (Lialda) in patients with Post-Infective Irritable Bowel Syndrome (PI-IBS). The investigators will evaluate gastrointestinal symptoms, IBS specific quality of life (IBS-QOL), and plasma cytokines before and after treatment with Lialda.
This study will identify the role of PACAP (pituitary adenylate cyclase-activating polypeptide) deficiency in patients with nephrotic syndrome. PACAP is a neuropeptide that has a putative role as an inhibitor of megakaryopoiesis and platelet function. Patients with nephrotic syndrome show decreased PACAP plasma levels, due to urinary loss. We hypothesize that in severe nephrotic syndrome, plasma deficiency of PACAP enhances megakaryopoiesis and causes blood platelet activation, which contribute to the increased rate of thromboembolic disease in these patients. To test our hypothesis, the role of PACAP deficiency on pro-thrombotic state in patients with nephrotic syndrome will be studied using patient blood and urine samples.
The purpose of this study is to define whether the acute consumption of low-fat milk protects against postprandial vascular endothelial dysfunction by reducing oxidative stress responses that limit nitric oxide bioavailability to the vascular endothelium. The investigators hypothesis is that the consumption of low-fat milk will improve postprandial vascular endothelial function in an oxidative stress-dependent manner that allows greater nitric oxide (NO) bioavailability. The objectives of this study are to 1) examine improvements in postprandial vascular endothelial function in response to low-fat milk ingestion, 2) define low-fat milk-mediated improvements in circulating biomarkers of redox status, and 3) define the mechanism by which low-fat milk improves NO bioavailability. Collectively, the successful completion of these studies is expected to define NO mediated activities of low-fat milk that protect against vascular endothelial dysfunction in individuals at high risk for developing CVD.
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.
In Myelodysplastic syndrome, epigenetic treatments such as Azacitidine and Decitabine have been highlighted in phase 3 studies. However, as the 1st line treatment, it has not been evaluated the head to head comparison of two drugs. This study is a retrospective study to compare the efficacy of two drugs.
The primary aim of this study is to increase our understanding of care-seeking behavior surrounding heart attacks or acute coronary syndromes [ACS]. This study uses an internet based survey to ask individuals how they obtained medical care in the midst of a heart attack. At present, care-seeking delay among individuals stricken with a heart attack prevents them from obtaining the full therapeutic benefit of hospital based medical care in a timely manner to reduce the long term health consequences of a heart attack. By using a self-tailoring survey instrument the study attempts to take into consideration the complex social processes by which the individual and their family make decisions to seek medical care for symptoms of a heart attack. The study is designed to obtain a national sample of ACS care-seeking behavior in the United States.
The Hemolytic Uremic Syndrome (HUS) in its typical form occurs after a food born infection with a shiga-toxin secreting bacteria, usually Escherichia coli of the O157H7 serotype. An outbreak of bloody diarrhea followed by HUS begun after a collective meal with 120 persons on June 8th, 2011 in Bègles, a city of Bordeaux urban area (CUB). At least 9 patients, 8 adults and 1 child have been involved in this HUS outbreak, E. coli of the O104:H4 serotype being demonstrated in most patients. This outbreak is remarkable by its preponderance in adults and women, its aggressiveness with multiorgan involvement , i.e. the kidneys, brain, liver, pancreas, and skin. Pathophysiology, prognosis, and treatment of typical HUS are poorly defined, particularly in adults who are usually not involved in typical E. coli O157H7 HUS. The aim of the present study is to gain knowledge on these different aspects of the HUS, including response to therapy.