View clinical trials related to Syndrome.
Filter by:The aim of this study is to characterize the pharmacokinetics and safety/tolerability of AFQ056 in children with Fragile X Syndrome(FXS)
SUSAC's Syndrome (SS) is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions. Since the first description of SS in 1979, hundreds of patients with SS, mostly young women, have been reported. However, comprehensive epidemiological, clinical and etiological features of SS have never been specifically addressed so far. The objective of this study is to characterize the epidemiological, clinical, and etiological features of SUSAC's Syndrome. In this aim, the investigators will constitute a national clinical-based cohort including all SS cases retrospectively reported in France since the last 20 years and all new cases prospectively observed. French Society of Neurology, Ophthalmology and Internal Medicine will be asked to collaborate. Every case will be reviewed by an expert comity of internists, neurologists and neuroradiologists to validate the diagnosis. The exhaustive and systematic analysis of each case will help to better define different aspects of the disease such as the incidence and prevalence, the clinical presentation, the diagnostic modalities and the impact of treatments. Diffusion tensor magnetic resonance imaging of the brain will be obtained to more carefully study the cerebral microvasculopathy of the disease. Serum, cerebrospinal fluid, and DNA samples from each patient will also be collected to study potential autoimmune, thrombotic and infectious markers.
Patients with Myelodysplastic Syndromes (MDS) often suffer from low platelet levels which may lead to bleeding complications. Treatment with cytotoxic agents can decrease the platelet levels further. Eltrombopag is a relatively new drug that increases the platelet level in the blood by working directly on the bone marrow. It is available for treatment of the disease Immunological Thrombocytopenic Purpura (ITP). In this study patients with MDS and low platelet levels that are treated with the cytotoxic agent Azacitidine will also receive Eltrombopag. The administration of Eltrombopag to MDS patients treated with Azacitidine may result in less dose reductions and less treatment delays for Azacitidine and may reduce the need for thrombocyte transfusions and lower the risk of bleeding complications. This is a phase I study, meaning that our major goal is to investigate the safety and tolerability for Eltrombopag in this patient group. It will also generate a basis for a phase II-III-study.
Context: Prader-Willi syndrome (PWS) is a genetic disorder characterized by childhood-onset obesity and endocrine dysfunction that leads to cardiovascular disability and early death within the first 3 decades of life. Objectives: To assess the significance of risk factors for future disabilities, carotid artery intima-media thickness (IMT) was measured and correlated with known atherosclerotic risk factors in 27 children with PWS and 24 age-, sex-, and body mass index (BMI)-adjusted controls.
Based on recent two-center results (Eur Respir J. 2011 Sep 1. [Epub ahead of print] PMID: 21885390) we hypothesized that intermittent High-frequency oscillation (HFO) combined with Recruitment Maneuvers (RMs) may beneficially affect the pathophysiology and survival of patients with moderate-to-severe Acute Respiratory Distress Syndrome (ARDS). Design: Randomized Controlled Trial. Intervention: Briefly, the HFO-RMs strategy of the intervention (HFO-RMs) group will comprise RMs (3/day) and an initial HFO session of 96 hours (HFO session can be interrupted before the 96-hour time point only if PaO2/FiO2 rises to >200 mmHg for >12 hours), followed by return to lung protective conventional mechanical ventilation (CMV) according to pre-specified oxygenation criteria. Within days 1-10 postrandomization, patients will be returned to HFO upon recurrence of their moderate-to-severe oxygenation disturbance. Patients of the control (CMV) group will receive lung protective CMV.
Background: - Potential negative effects of pacing in the RV-apex are well documented - However, study results comparing septal / RVOT-pacing versus RV-apical pacing controversial. - The optimal pacing mode in SSS (DDDR versus AAIR) is unclear, as the DDD (R) mode with an AV delay ≤ 220 ms should be the preferred pacing mode, according to the DANPACE trial [DANPACE, ESC 2010, Stockholm]. Aim: - to evaluate chronic effects of proven right ventricular septal compared to minimized right ventricular septal pacing in patients with SSS Inclusion criterion: -Pacemaker indication according to current guidelines: sick sinus syndrome (SSS) Exclusion criteria: - Life expectancy < 2 years - Age <18 years - Noncompliance with regard to participation in the study - Pregnancy - AV block ° 2 and higher - Permanent atrial fibrillation - Heart failure NYHA III and IV, reduced LV-EF <40% - ICD indication - Acute coronary syndrome. PCI or CABG <3 months - Heart transplant - Placement of septal RV electrode is not possible Study design: - Prospective, monocentric, randomized, double-blinded - Run-in phase: for weeks AAI [R]-DDD [R] - Randomization: two groups A) septal right ventricular chamber pacing: mode DDD [R] versus B) Reduction of unnecessary ventricular pacing: AAI [R]-DDD [R]. - FU: 6 and 12-months Primary endpoints: -LV ejection fraction and end-systolic LV volume after 12 months. Secondary endpoints: -LV end-diastolic volume, TAPSE, parameters of dyssynchrony (SPWMD, LV-PEP, IVMD), AF-burden, % ventricular pacing, CPX: peak oxygen consumption (peak VO2), VO2 AT, VO2/HR, VE/VCO2 slope; QoL scores (SF-36) after 12 months. Statistics/sample size estimation: In order to detect a difference in LVEF of 5% and for LV-ESV of 5 mL between the 2 groups after 12 months: - 90% power/alpha 5%: 84 patients per group - 80% power/alpha 5%: 63 patients per group - 10% for compensation of drop-outs / patients lost of follow-up. Two-sided 5% type 1 error Analysis intention-to-treat and based on the finally programmed pacing mode. Material - PG: market released dual chamber pacemakers with the ability to pace AAI(R) -DDD(R) - pacing leads: market-released standard active electrodes - RV electrode: septal verified under multi-level screening (RAO/LAO) and ECG (LBBB narrow <150 ms / inferior axis)
The purpose of this study is to examine the acute health effects of concentrated ambient ultrafine (UF) particulate matter (PM) exposure in patients with metabolic syndrome. Without lifestyle changes or medical intervention these patients are at considerable risk for developing diabetes and cardiovascular disease. Subjects (25-70) were exposed to both UF PM and filtered air for 2hr (at least 2 week interval), physiologic endpoints were measure pre-, post-, and 20hr post-exposure. Our hypothesis is that PM exposure in this population will result in changes in vascular and endothelial response as assessed by flow-mediated dilatation of the brachial artery and various heart rate variability and blood endpoints. This study and similar studies of susceptible populations are needed to provide the EPA with information regarding the health risks associated with ambient levels of UF PM.
The purpose of this study is to evaluate the safety and efficacy of an investigational compound designated PF-03654746 compared to placebo in the treatment of adults with Tourette's Syndrome. The study will also explore the pharmacokinetics of PF-03654746 in adults with Tourette's Syndrome.
The first aim of the investigators study, was to investigate the combined effect of diet,physical exercise and orlistat, for 24 weeks, on serum Anti-Müllerian Hormone (AMH) levels in obese women with polycystic ovary syndrome (PCOS) and in obese controls. The other aim of the investigators study, was to examine the effect of hypocaloric diet,physical exercise plus sibutramine on serum AMH levels, body composition, hormonal and metabolic parameters in overweight and obese patients with polycystic ovary syndrome (PCOS).
Polycystic ovarian syndrome (PCOS) is the most common cause of anovulatory infertility and causes menstrual disruption in 6.6-6.8% of women in reproductive age and is characterized by insulin resistance, hyperinsulinemia, hyperandrogenism and anovulation. The gaol of this study was to assess the effects of metformin on menstrual disorders and lipid profile in women with PCOS in bandarabbas.