Active clinical trials for "Syndrome"

This is an Observational Study of children under the age of 11 diagnosed with Cockayne Syndrome to assess the natural progression of Cockayne Syndrome disease, with special attention to hearing and physical changes in length or height, weight, head circumference, and arm span during standard treatment. The primary analytical objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.

This is a multicenter, prospective trial to measure the test performance characteristics of the Magnetocardiography (MCG) CardioFlux cardiac diagnostic system in detecting clinically significant coronary artery obstruction in patients with symptoms of suspected acute coronary syndrome or who present with a failed stress test with the intention of treat with cardiac catheterization.

The hypothesis of the study is that the motility of the small intestine and the colon will alter according to the subtype of the irritable bowel syndrome (IBS) patient. IBS is currently classified into following subtypes: Diarrhoea-IBS (IBS-D) Constipation-IBS (IBS-C) Mixed-IBS (IBS-M) Unsubtyped-IBS (IBS-U) according to the Bristol scale. Magnetic Tracking System (MTS) is a new minimal invasive technic that allows motility studies of the whole human gastrointestinal tract. The magnetic cylindrical pill (6x15mm) is swallowed at 9 AM on day one. The recording is made until 4 PM and again from 8 AM until 2 PM on day two. The patient is placed in a bed and will be supplied with standardized food and fluid. The Magnetic Tracking System consists of a 4 x 4 matrix of sensors positioned with respect to the anatomical reference points. Before measurements, the matrix is calibrated by offsetting the earth's and environmental magnetic fields. During the experiment, the magnet coordinates are continuously monitored and transmitted to a computer for processing and storage. Respiratory artifacts will be filtered out. Digestive movements will then be classified as 1) non-propulsive or 2) propulsive and transformed into either trajectory or dynamic graphs of the digestive motility. The Magnetic Tracking System has the advantage from both radiographic and scintigraphic methods of conducting the tests without any radiation exposure to the patient. Preliminary studies have shown good concordance between the transit measured with the magnet and radiographic transit times. The investigators wish to use this method, MTS, to compare the motility of the small intestine and the colon in patients with IBS-D and IBS-C as well as to compare these to groups to MTS done on healthy volunteers under the same conditions as the IBS patients.

Purpose: Identification of the gene(s) involved in plasma membrane remodelling. Identification of the circulating markers affected by the defective membrane remodelling in a collection of families with unexplained provoked hemorrhages and evaluation of their prognosis value in the assessment of the hemostatic cellular response.Hypothesis: Scott syndrome is rare a familial disorder characterized by provoked haemorrages in homozygous-type patients due to isolated membrane remodelling deficiency. Membrane remodelling is necessary for cellular hemostatic responses.

We propose a retrospective review of patients with DiGeorge syndrome having undergone cardiac surgery to evaluate the incidence of blood stream and/or surgical site infection. The hypothesis is that we will find an increased number of infections for this sub-group. We will compare the incidence of infection to children of similar age and diagnosis to evaluate for variances in the incidence of infection.

Metabolic syndrome is rapidly emerging as an epidemic of global proportions and its definition is still evolving. Patients with this syndrome are at increased risk for cardiovascular disease, and at increased risk of mortality from cardiovascular disease. Metabolic syndrome is strongly associated with obesity, and more specifically with abdominal obesity. Abdominal obesity, comprises two main components: visceral (VAT) and subcutaneous (SAT) adipose tissue depots, with VAT reported as more metabolically active than SAT, and thought to play a major role in the metabolic disturbances associated with obesity and metabolic syndrome. Non-alcoholic fatty liver disease (NAFLD) is fast becoming the most common liver disease and is associated with obesity, insulin resistance and metabolic syndrome. Bariatric surgery has yielded dramatic results including longitudinal loss of excess body weight and either complete reversal or significant improvement of several features of metabolic syndrome, NAFLD, and nonalcoholic steatohepatitis (NASH) in obese patients.

Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had objective testing of the autonomic nervous system. This is a pilot study in which patients with CdLS will undergo the standard clinical testing for autonomic dysfunction with a autonomic reflex screen and thermoregulatory sweat test.

The goal of this study is to assess a new non-invasive computerized, multiphase, resting electrocardiogram analysis device in early identification of patients at risk for acute coronary syndrome. The overall objective is to assess the association between the results from a resting MCG and 30-day cardiovascular outcome in patients presenting to the emergency department with suspected coronary disease.

To assess the incidence of Sleep Apnea-Hypopnea Syndrome (SAHS), both obstructive and central, in patients with: 1) pacemaker indication; 2) implantable cardioverter defibrillator (ICD) or cardiac resynchronization therapy (CRTD), 3) heart failure and preserved left ventricular ejection fraction (LVEF) and 4) heart failure and reduced LVEF.

This is an observational study to characterize the prevalence of Obesity Hypoventilation Syndrome in patients referred to the sleep lab.