Active clinical trials for "Syndrome"

The goal of this qualitative study is to understand the challenges of stigmatization and discrimination in children and young adults with Chronic Tic Disorders (CTD), including Tourette Syndrome. Measuring and understanding how stigma affects those with CTD will help inform future work.

Autoimmune polyendocrine syndrome (APS) is an autoimmune disease involving at least two endocrine organ. It is classified into type I and type II diseases. Among them, APS type II is more common. It is diagnosed when two of the three following diseases are diagnosed in the same patient, including type 1 diabetes mellitus, autoimmune thyroid disease, and primary adrenal insufficiency. In this study, we will observe the epidemiology, clinical characteristics, and genetic variants of APS II in Taiwan.

The purpose of this study is to investigate the relationship between the severity of thoracic outlet syndrome and upper extremity function, as well as neural integrity.

The main objective was to analyze the impact of the gender of the attending physician in the differences in the management of ST+ ACS between men and women. This study will be conducted in partnership with the interventional cardiology team of the CHR Metz-Thionville and SAMU (emergency call center) of Moselle, which has a detailed registry of coronary angiographies at the center. A retrospective observational study will be carried out over a "typical" period outside of covid at the CHR Metz Mercy (2021-2022) based on coronary angiographies performed in the context of ST+ ACS at the CHR of patients referred by the center 15. The patient's medical record will be analyzed, going back to his call to the 15 via tape listening. The number of subjects required being calculated at 104 men and 104 women, these patients will be selected from the database of our cardiologist colleagues and we will match one man to one woman by comparing the delays of several items (1st medical contact, time of 1st ECG, medicalization or not, delay of call to the cardiologist, delay of coronary angiography...) according to the sex of the regulator. The consequences of a difference in management will be also evaluated by analyzing in-hospital mortality, mortality at 30 days of management, and functional sequelae at discharge (grades of dyspnea, disturbance of myocardial contractility, LVEF at discharge). This study based on the differences in questioning according to the gender of the regulating physician would allow better identification of the factors that increase the delay in the management of ST+ ACS in women, and to find avenues of correction in order to limit the loss of opportunity for patients. The patients included who are still alive will receive a notification of non-objection by mail.

Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities. Patients participate in questionaries, dexa-scan of bones, fibroscan of liver, ultra sound of testicles and blood will be analyzed for organ specific blood work as well as immunological and coagulation components.

This study collects blood and stool samples from patients with suspected or diagnosed Lynch syndrome to evaluate a deoxyribonucleic acid (DNA) screening technique for the detection of colorectal cancer in Lynch syndrome patients.

To determine the validity and reliability of the shorter version of the CTQ-SSS in patients with carpal tunnel syndrome (CTS) undergoing nonsurgical management.

Cerebral hyperperfusion syndrome (CHS) was initially described as a clinical syndrome following carotid endarterectomy (CEA), but it may present in both CEA and carotid artery stenting, and is characterised by throbbing ipsilateral frontotemporal or periorbital headache, and sometimes diffuse headache, eye and face pain, vomiting, confusion, macular oedema, and visual disturbances, focal motor seizures with frequent secondary generalisation, focal neurological deficits, and intracerebral or subarachnoid haemorrhage. Knowledge of CHS among physicians is limited. Most studies report incidences of CHS of 1-3% after carotid endarterectomy. CHS is most common in patients with increases of more than 100% in perfusion compared with baseline after carotid revascularization procedures and is rare in patients with increases in perfusion less than 100% compared with baseline. The pathophysiological mechanism of CHS remains only partially understood. The chronic lowflow state induced by severe carotid disease results in a compensatory dilation of cerebral vessels distal to the stenosis, as part of the normal autoregulatory response, to maintain adequate cerebral blood flow (CBF). In this chronically dilated state, the vessels lose their ability to autoregulate vascular resistance in response to changes in blood pressure. In fact, it has been shown that this dysautoregulation is proportional to the duration and severity of chronic hypoperfusion. After revascularization and reperfusion, the impaired cerebral autoregulation could then contribute to a cascade of intracranial microcirculatory changes, as explained above, with an inability of reaction toward the augmentation of the CBF after the carotid recanalization. Although most patients have mild symptoms and signs, progression to severe and life-threatening symptoms can occur if CHS is not recognised and treated adequately. Because CHS is a diagnosis based on several non-specific signs and symptoms, patients may be misdiagnosed as having one of the better-known causes of perioperative complications like thromboembolism.

In patients expressing the SCN5A-E1784K mutation (Glu1784Lys), cardiovascular risk is difficult to define as the stratification of these patients is challenging. From our experience, major cardiovascular events (MCE) tend to occur more frequently in patients expressing overlap syndrome phenotype (Brugada syndrome and Long QT syndrome type 3)than in patients expressing a single phenotype (whether Brugada syndrome or Long QT syndrome type 3). This trials is led on the impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A ( RISKOVER )

The 3q29 deletion syndrome is caused by a deletion of a small part of human chromosome 3, and the duplication syndrome is caused by a duplication of this same small region. The purpose of this study is to understand the medical and behavioral consequences of these syndromes.