View clinical trials related to Syndrome.
Filter by:The overall purpose of this study is to develop a broad-based (i.e., multiple domains) behavioral outcome measure for children between the ages of 3-18 years with Rett syndrome (RTT). The innovative approach of this proposal consists of integrating the process of developing a behavioral questionnaire to an ongoing large-scale data collection project. The Natural History Study of Rett Syndrome and Related Disorders (RTT5211) is a project that collects data on diverse aspects of the clinical evolution of individuals with RTT and related disorders. This project will serve as the basis for recruitment of subjects and it will also provide key demographic and clinical data for cohort characterization and for determining clinical relevance of the instrument (RettBe). An initial 100-subject cohort will allow for the testing with one rater of RettBe 1.0, a 50-item questionnaire formed from existing measures, a panel of clinicians and behavioral experts in RTT, and a focus group of parents and caregivers of children with RTT. Scores on RettBe 1.0 will be statistically analyzed to determine their psychometric properties, including its content validity. Items that do not meet psychometric standards (e.g., ceiling effect) will be eliminated. Additional items will be added if the parental survey attached to RettBe 1.0 or clinician input suggests so. The resulting modified assessment, called RettBe 2.0, will be administered to a larger (validation) cohort of 300 participants. RettBe 2.0 will also be subjected to analysis of psychometric properties. RettBe 2.0 will also be administered to two raters per subject, in order to determine inter-rater reliability. In addition, these raters will be completing other behavioral and clinical measures for further evaluating the validity of RettBe 2.0 as well as for determining its clinical and functional significance. Finally, the investigators will obtain input from a panel of clinicians (site PIs and their designated clinicians) about content validity and clinical impact. The resulting version will be released as RettBe 3.0.
This study explores the effects of an eight-week exercise intervention for adolescents with Down syndrome on home exercise compliance. As well, to observe changes in fitness including muscular strength, endurance and aerobic capacity. Finally to observe any changes in mood, behavior and quality of life.
This study aims to explore the optimal dose of pegylated recombinant human growth hormone (PEG-rhGH) injection to treat children of Turner syndrome (TS), preliminarily evaluate its safety and efficacy and provide scientific and reliable evidence for the medication dosage in Phase 3 clinical trial.
Ovarian hyperstimulation syndrome is an iatrogenic complication of controlled ovarian stimulation. Ovarian hyperstimulation syndrome prevention is a multistage process and more important than treatment.Preventive administration of GnRH antagonist for high risk OHSS patients from the day of oocyte retrieval is not investigated. Besides, the relevant mechanism is not clear yet. Here we designed a prospective randomized study to investigate whether GnRH anatagonist treatment after oocyte retrieval is more effective in preventing early ovarian hyperstimulation syndrome development than traditional aspirin preventive administration in women at high risk for OHSS.
Recent studies highlight the participation of gut microbes in the pathogenesis of both atherosclerotic heart disease and its adverse thrombotic events. Trimethylamine N-oxide (TMAO) is a plasma metabolite shown to be formed through a metaorganismal pathway involving nutrient precursors abundant in a Western diet and the sequential action of gut microbiota. Numerous studies reveal an association between systemic TMAO levels and cardiovascular risks in a variety of stable cohorts. The purpose of this study is to evaluate the efficacy of traditional Chinese Medicine formular (Compound pseudo-ginseng granules ) on the level of TMAO for the patient with acute coronary syndrome(ACS) undergoing percutaneous coronary intervention. 80 patients with ACS would be randomly allocated into interventional group(IG) and control group(CG). The patients in the IG would be administered by oral Compound pseudo-ginseng granules (twice per day ) for 90 days and those in the CG would receive the placebo twice per day during the same period. All of subjects would be administered with standard therapy in accordance with AHA/ACC guideline for ST-elevation myocardial infarction(STEMI) and Non ST-elevation myocardial infarction(NSTEMI).The primary endpoint is the plasma level of TMAO at 90-day follow-up. The second endpoint is the level of lipid, score of The Seattle Angina, fecal DNA extraction and pyrosequencing.
The purpose of this study is to investigate and compare the effects of eccentric and concentric strength training on pain, strength, joint position sense and function in patients with subacromial impingement syndrome.
Decompressive craniectomy is frequently used to treat increased intracranial pressure or an intracranial mass effect. Trephined Syndrome describes a neurological deterioration, which is attributed to a large craniectomy. The symptomatology is varied but includes headache, aggravation of a hemisyndrome or cognitive disorders, often has an orthostatic component and improves or disappears with cranioplasty. The incidence of Trephined Syndrome has been reported between 7% and 26%. However, it might be underestimated if the course of cognitive functions before and after cranioplasty were insufficiently documented.
Percutaneous endoscopic gastrostomy (PEG) is a method for nutrition delivery for patients with insufficient oral intake. A rare but severe complication of PEG is the Buried Bumper Syndrome (BBS). In BBS the internal fixation device of the PEG migrates along the stoma chanel. The internal fixation disc becomes covered by gastric mucosa, which causes loss of patency, fixation of the PEG and possible leakage around the PEG. BBS can be treated endoscopically by dissecting the overgrowing tissue with endoscopic submucosal dissection (ESD) knifes. A new and alternative approach is the use of the Flamingo device, which is inserted over the PEG and then is used to radially dissect the overgrowing tissue with a cutting wire. In this study both methods, the standard method using an ESD knife and the Flamingo device, are compared in a randomized controlled open-label trial. Primary endpoint is the time needed for PEG removal.
The main aim of the study is to examine the effect of oral CoQ10 plus NADH (Reconnect®) supplementation twice daily for 8-weeks on the changes in fatigue perception, sleep disturbances, autonomic dysfunction and HRQoL assessed by patient-reported outcome measures in CFS/ME.
The investigators will conduct genetic comparisons between Turner Syndrome (TS) patients with and without Bicuspid Aortic Valve (BAV) to identify causative agents of BAV in people with TS. The investigators will correlate the patterns and prevalence of structural heart defects in TS women with emerging molecular data to identify patients who are at high risk for cardiovascular complications