Active clinical trials for "Syndrome"

Objectives: To examine the variations in clinical features, survival outcomes, family history, and health behavior among proband patients who are known or suspected to have a hereditary colorectal cancer syndrome To compare the clinical features, survival outcomes, and health behavior of the proband vs. his/her family members who may or may not be affected by the hereditary colorectal cancer syndrome To explore for correlations between germline genetic variations in both the probands and family members with observed variations in the overall disease phenotype across probands and kindreds, within a given syndrome. Disease phenotype is defined to include: (1) clinicopathologic features including patient demographics and oncologic outcomes; (2) clinical manifestations of disease including the timing, spectrum and severity of CRC and extracolonic cancers. Genetic variations may include the specific codon mutated, the type of mutation and sequence alteration (e.g. nonsense, missense etc), chromosomal/gene copy number changes, and gene polymorphisms. To explore for correlations between germline genetic variations in both the probands and family members with observed variations in somatic CRC tumor biology, including tumor pathology and other tumor molecular markers

Posner-Schlossman syndrome, or glaucomatocyclitic crisis, is a condition characterized by recurrent, acute attacks of mild, nongranulomatous, anterior uveitis accompanied by markedly elevated intraocular pressure. Most of patients are the 20 to 50-year-old young adults, with unilateral eye involvement. PSS was originally deemed benign, but is now recognized as a relatively rare cause of chronic secondary glaucoma,especially in patients with recurrent episodes. This relatively rare disease is likely the result of the infections of a variety of organisms, and the bulk of literature supports the cytomegalovirus (CMV) as the leading cause. This study is an observational study that does not interfere with the normal clinical diagnosis and treatment process. The investigators in this study focus on observing the clinical symptoms and outcome of PSS, analyzing the factors that affect the prognosis of PSS, studying the association of its pathogenesis with the psychological status and the behavioral types of PSS patients; exploring the relationship between infection (CMV, HSV, Hp) and PSS; and studying the changes of local and systemic cytokine expression and its significance in patients with PSS.

Modifications of cell surface markers (including EMMPRIN) were observed in conjunctival epithelial cells during dry eye syndrome ; this study aims to describe the modifications of the repartition of these cell surface markers before and after initiation of a treatment.

The purpose of this study is to evaluate the selective cytopheretic device on the immune dysregulated state of congestive heart failure(CHF) with CRS and to assess the benefit of the device to improve cardiovascular and renal function. The study will enroll eligible patients in the ICU with acute on chronic systolic heart failure and worsening renal function due to cardiorenal syndrome while awaiting LVAD implantation. In this study patients who are eligible and agree to participate will receive treatment with the SCD. The treatment will be for 6 hours a day up to 6 days. Additionally, participants will have additional study procedures and be evaluated to determine if their kidney function improves enough to undergo LVAD implantation.

Multi-center study enrolling patients suspected or newly diagnosed with myelodysplastic syndromes (MDS), myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) overlap disorder, or idiopathic cytopenia of undetermined significance (ICUS). Participants will be followed long term. Clinical data, blood, and tissue samples will be collected to establish a biorepository to facilitate the study of the natural history of MDS.

Prader-Willi Syndrome (PWS) is a rare syndrome with a prevalence of 15 to 20 000 at birth. PWS represents a large fraction of mental retardation syndromes due to a genetic cause and the most frequent cause of genetic obesity. The majority of the patients are seen by paediatricians. This syndrome is responsible for severe physical, psychological and social impairments. The diversity and the severity of the manifestations of this disease explain the requirement of multidisciplinary care which deserve specific evaluation. Today the follow-up and management of a great proportion of these patients are greatly insufficient if not absent. Teams strongly lack information on the natural history of this severe disease and on the factors involved in its evolution and the outcome of these patients throughout life. The present project is to implement a register in the whole country for children and adult patients

Each year world-wide, 2.5 million fetuses die unexpectedly in the last half of pregnancy, 25,000 in the United States, making fetal demise ten-times more common than Sudden Infant Death Syndrome. This study will apply a novel type of non-invasive monitoring, called fetal magnetocardiography (fMCG) used thus far to successfully evaluate fetal arrhythmias, in order to discover potential hidden electrophysiologic abnormalities that could lead to fetal demise in five high-risk pregnancy conditions associated with fetal demise.

Congenital long QT syndrome (LQTS) is a rare genetic disorder characterized by prolongation of the corrected QT interval (QTc) on the electrocardiogram. LQTS is associated with a risk of syncope or sudden death from ventricular arrhythmia. The increase in the duration of the corrected QT interval and / or changes in the morphology of the T wave on the electrocardiogram are markers of an increased risk of sudden death and syncope. Recently, a personal portable 6-lead device (DI, DII, DIII, aVF, aVL and aVR) connected to the patient's smartphone has entered the market (KARDIA MOBILE 6L, AliveCor, Mountain View, CALIFORNIA, USA). The APPLE WATCH Series 6 (Apple, Cupertino, CA, USA) can also record an ECG. If the device is designed to record a single lead (DI), several works have shown that it is possible to record 9 leads (DI, DII, DIII, V1, V2, V3, V4, V5 and V6) by moving simply the device (Spaccarotella CAS et al. JAMA Cardiology 2020). These devices were originally designed to screen for atrial fibrillation, but they produce accurate 6- and 9-lead ECGs and could potentially allow ambulatory ECG monitoring of patients with LQTS.

Thrombotic microangiopathy (TMA) is a severe and life-threatening condition, often affecting the kidneys and brain. It can occur on the background of various clinical conditions. Dysregulation of the alternative pathway of complement may be the etiological factor and this type of TMA is classified, according to the current nomenclature, as primary atypical hemolytic uremic syndrome (HUS). Half the patients with primary atypical HUS present with rare variants in complement genes, although coexisting conditions are often needed for the TMA to become manifest. In patients with secondary atypical HUS, certain coexisting conditions appear to drive the disease and treatment should target the underlying condition to remit the TMA. Recently, the investigators demonstrated, by using a novel in-house developed functional endothelial cell-based test, that complement dysregulation and overactivation is the dominant cause of disease and its sequelae in a subset of patients with secondary atypical HUS, having impact on treatment and prognosis. The investigators did first prove this concept in patients presenting with TMA and hypertensive emergency. A prospective study is needed to further corroborate these findings along the spectrum of TMA. The investigators hypothesize that their functional endothelial cell-based test, the so-called "HMEC" test, can better categorizes the TMA into different groups with potential therapeutic and prognostic implications. Thus, paving the road to the ultimate goal of precision medicine.

This cohort study implements patient reported outcome measures (PROMs) for patients with bodily stress syndrome in a clinic for functional disorders.