Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
Rett SyndromePrader-Willi Syndrome2 moreThis study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. These individuals will serve as control subjects. The study will use questionnaires designed to identify sleep disorders and how they affect behavior and quality of life. The principal goals of this study are: To see how common sleep disorders are in individuals with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome; To see how sleep disorders affect behavior in these individuals; To see whether sleep disorders and related behavior problems improve or worsen with age; To see how specific disease conditions relate to sleep disorders and how bad the sleep disorders are; To develop new treatment options to improve quality of life and behavior issues; and To evaluate current treatment options to improve sleep problems in these individuals.
Relationship of Helicobacter Pylori Eradication Therapy and Long-term Outcome in Acute Coronary...
Acute Coronary SyndromeObjective: To investigate the relationship between Helicobacter pylori (Hp) infection and the prognosis of acute coronary syndrome (ACS) in a Chinese population and to explore the significance of Hp eradication therapy in preventing major adverse cardiac events (MACE) and upper gastrointestinal bleeding (UGIB) in patients on dual antiplatelet treatment. Methods: To analyze 472 ACS patients with drug-eluting stent (DES) implantation from January 1, 2008 to December 31, 2010 in the department of cardiology at Beijing Mentougou District Hospital. Patients were divided into three groups: Group 1, the Hp-negative patients (Hp-); Group 2, the Hp-positive patients with eradication therapy (Hp+ Therapy); and Group 3, the Hp-positive patients without eradication therapy (Hp+ No Therapy). All patients took 13C urea breath test, high sensitive C-reactive protein (hs-CRP),homocysteine (HCY) and other biochemical indicators. The investigators explored the correlations of Hp eradication therapy with MACE (including recurrent myocardial infarction, revascularization and death) and UGIB after 3 to 5 years of follow-up using survival analysis.
Validation of the Percentage of Alveolar Fibrocyte as Biomarker During ARDS
Acute Respiratory Distress Syndrome (ARDS)Mechanical VentilationFibrocyte is a monocyte sub-population involved in fibroproliferation/repair processes and associated with outcome in different diseases. In previous study, we have demonstrated the presence of alveolar fibrocytes during Acute expiratory Distress Syndrome (ARDS) and their association with patient outcome. The purpose of this multicentric observational prospective study is to describe the percentage of alveolar fibrocytes in ICU patients with ARDS (survivors vs. non survivors) and to confirm their association with 28-day mortality.
Health Needs of Patients With Kallmann Syndrome
Kallmann SyndromeCongenital Hypogonadotropic Hypogonadism1 moreKallmann syndrome (KS), also known as congenital hypogonadotropic hypogonadism (CHH), is a rare endocrine disorder that is characterized by failure to undergo puberty combined with infertility. KS/CHH patients face a number of psychosocial burdens related to delays in diagnosis, inadequate access to expert care, and lack of information about the condition. As such, there is some evidence to suggest that KS/CHH patients have unmet health needs. This study aims to identify the needs of patients and understand the issues that must be overcome to achieve improved health and quality of life.
Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes
Cohen SyndromeThis project will make it possible to better understand the natural history of Cohen Syndrom and the phenotypes associated with mutations in the VPS13B gene, to improve the therapeutic management of patients. It will also provide a better description of Cohen-like syndrome for genetic counselling for the families concerned.
Intraoperative Floppy Iris Syndrome in Korean Patients Taking α1-Adrenergic Receptor Antagonists...
Intraoperative Floppy Iris SyndromeIntraoperative floppy iris syndrome (IFIS) is a recently described condition observed during cataract surgery. It has been hypothesized that irreversible atrophy of the iris dilator muscle associated with α1-adrenergic receptor antagonists (α1-ARA) is responsible for IFIS. However the prevalence of IFIS in Korean population is not reported. The purpose of this study is to evaluate the prevalence and clinical manifestations of IFIS in relation to iris anatomical change in Korean patients taking α1-ARA.
Treatment Use of 3,4-Diaminopyridine
Myasthenic SyndromesCongenitalThis protocol has provided 3,4 diaminopyridine (DAP) under a treatment-use IND to patients with congenital myasthenic syndrome (CMS). It is currently closed to enrollment.
The GReek AntiPlatElet (GRAPE) Registry: A Multicenter Observational Prospective Investigation of...
Acute Coronary SyndromeThis is a multicenter, prospective, observational investigation, focusing of antiplatelet treatment in patients with moderate to high risk acute coronary syndrome (TIMI risk score ≥3)subjected to percutaneous coronary intervention (PCI), being conducted in 7 PCI capable hospitals in Greece. Data concerning patients' demographic, clinical/procedural characteristics and contraindications/special warnings and precautions to P2Y12 inhibitors are collected during initial hospitalization. Study involves 3 follow-up visits after hospital discharge(Day 30, at 6 months and at 12 months) where data on major adverse cardiac events (death, myocardial infarction, stroke, urgent revascularization procedure with PCI or CABG), bleeding events(according to Bleeding Academic Research Consortium criteria)and adherence to antiplatelet treatment are collected. In patients under ticagrelor or prasugrel treatment, platelet reactivity measurement with VerifyNow assay will be performed at Day 30
Sleep Apnoea Syndrome Without Chronic Heart Failure
Sleep Apnoea SyndromeIt is the objective of this study to collect scientific data of sleep apnoea syndrome patients´ cardiac and respiratory function by additional sensors.
3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)...
Lambert-Eaton Myasthenic Syndrome (LEMS)Congenital Myasthenia (CM)Lambert-Eaton Myasthenic Syndrome (LEMS) is a rare autoimmune disorder which affects the nerve-muscle junction. The major symptoms of LEMS are progressive muscle weakness. Many patients experience other symptoms like dry mouth or impotence. Congenital Myasthenia (CM) is an inherited disorder with similar affects and symptoms. 3,4-Diaminopyridine (DAP) is an experimental drug that has improved strength in some subjects with (LEMS). There are no other accepted treatments for LEMS and DAP has relatively few side effects.