View clinical trials related to Syndrome.
Filter by:Patients with deletion of chromosome 9 P are rare (~200 in the medical literature) and have a diverse set of phenotypic characteristics. We propose using state of the art genome sequencing methods to define the location and size of the deleted portion of chromosome 9 P as well as the genetic background in affected patients (whole genome sequencing) and correlate the genes in the deleted portion of chromosome 9 P with specific phenotypic characteristics of each patient. Enrolled participants will be asked to complete a detailed questionnaire, complete a medical release form, and provide a biospecimen sample.
Anti-CD20 monoclonal antibodies are emerging as the steroid-sparing therapy of choice for nephrotic syndrome.This Randomized Clinical Trial seeks to evaluate whether Rituximab biosimilar maintains drug-free disease remission in patients with steroid-dependent nephrotic syndrome for 12-24 months and verify its superiority vs. mycophenolate mofetil (1,200 mg/m2 orally in 2 daily doses). The investigators will compare the risk of relapse to test this hypothesis (primary outcome). Secondary objectives will include assessing short- and long-term side-effects and developing specific biomarkers of sensitivity to therapy. Patients will be recruited, treated and followed at IRCCS G Gaslini and IRCCS Bambino Gesù where laboratory studies will be performed at in-site facilities.
Novel therapy for the Long QT Syndrome based on the mechanism of action of the disease-causing mutations Long QT syndrome type 2 (LQT2) accounts for ~ 35% of all LQTS cases and is difficult to manage, as beta-blockers frequently fail to provide full protection. Most LQT2 patients (pts) have a Class 2 mutation, which implies defective "trafficking". Lumacaftor (LUM) is a drug developed and currently indicated for the treatment of cystic fibrosis (CF) in patients homozygous for the F508del mutation in the CFTR gene. LUM corrects protein folding and trafficking defects of mutant and misfolded CFTR channels, restoring their cell surface expression. The investigators recently demonstrated that LUM can rescue in vitro the LQTS phenotype observed in human induced pluripotent stem cell- derived cardiomyocytes (hiPSC-CMs) from pts with LQT2 Class 2 mutations (PMID: 29020304) and in these same two patients Orkambi administrated for 7 days at the same dosage approved for cystic fibrosis showed to reduce their QTc (PMID: 30753398). With the present phase II clinical trial (MAST2) the investigators will enroll 20 LQT2 patients (see inclusion and exclusion criteria) and they will test in vivo the efficacy of Orkambi in shortening their QTc. Patients will be admitted to hospital for a maximum of 7 days (minimum in-hospital stay based on evidence of QTc shortening). Orkambi will be administered at the dose approved for cystic fibrosis and during the entire period continuous ECG monitoring through both telemetry and 12-lead 24-hr Holter monitoring will be performed and QTc length and morphology will be analyzed.
This is a prospective observational clinical trail which will recruit 1000-1500 participants over 65 years with frailty and acute coronary syndrome (ACS) in Beijing Friendship hospital. The investigators will conduct frailty assessment (FRAIL scale, CFS, SPPB), comorbidities, functional status (Barthel index, ADL, IADL), nutritional risk (MNA-SF), and then observe the clinical outcomes of elderly ACS participants with frailty. Then, the investigators will follow-up these participants separately in 1,3,6 and 12months, the anticipate follow-up time is 1 year. According to the follow-up results, investigators will evaluate the impact of frailty and other senile syndromes on the short-term and long-term prognosis of ACS, and develop a scoring system for the prognosis evaluation of elderly ACS participants.
Carpal tunnel syndrome (CTS) is the most prevalent peripheral nerve entrapment of upper limb. Typical symptoms comprise pain, numbness or tingling of the thumb and index, middle or ring fingers. Thumb weakness and decreased grip strength can occur in the later stage. Currently treatments included physical modalities (low power laser, transcutaneous electrical nerve stimulation, ultrasound), medication, splinting, injection and surgery. Ultrasound guided intracarpal hydro-dissection of median nerve had been proposed based on its accurate localization, while the injectates were diverse. Corticosteroid has been widely used for CTS for decades. However, growing evidences suggested that 5% dextrose, normal saline, platelet rich plasma injection also have therapeutic effects on alleviating CTS symptoms. Among the injectates, a single 5% dextrose injection could be considered as a substitute of corticosteroid based on its long term effect up to six months. However, the clinical efficacy of 5% dextrose injection has not validated by the further study. The investigators aim to compare the therapeutic effect of 5% dextrose injection with corticosteroid injection in patients with CTS, up to 12 weeks follow up.
The study aimed to evaluate the association between the obesity grade and the age of the first acute coronary syndrome (ACS). The effect of cardiovascular (CV) risk factors and the age of first ACS in patients with severe obesity was also examined. Consecutive patients with diagnosis of first episode of ACS were prospectively enrolled in 2014 to 2024.Cardiovascular risks of patients will be determined according to clinical and laboratory evaluation and patients were categorized by their body mass indices (BMI). Independent variables that effected the age of first ACS were examined by linear regression analysis
Lymphangioleiomyomatosis (LAM) is a rare and progressive pulmonary disease of unknown etiology that almost exclusively affects women. It is characterised by cystic radiological lung pattern and by the possible presence of angiomyolipomas in other sites or organs. Functionally LAM is associated with airway obstruction or restriction and progressive hypoxemia up to chronic respiratory failure. There are no studies, so far, which have investigated whether during sleep these patients show changes in the sleep profile and gas exchange and if these changes are related to disease severity. Aim of the study, prospective and pilot, is to evaluate whether the physiological modification of respiratory mechanics during sleep is associated with polysomnographic alterations in LAM.
The primary objective of this study is to examine whether exercise training alone, liraglutide treatment alone or exercise training plus liraglutide treatment increases cardiac and skeletal muscle microvascular blood volume, improves vascular function of the conduit vessels, and enhances insulin's metabolic action in humans with Metabolic Syndrome. Subjects will be randomized to one of the 4 groups: control, exercise training, liraglutide treatment, and exercise + liraglutide. They will be studied at the baseline and then after 24 weeks of intervention.
The goal of this registry is to collect information on individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other forms of microcephalic primordial dwarfism. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.
The study aims to determine the pharmacodynamic performance in the first hour measured with verifynow, of the conventional ticagrelor loaded dose versus chewed ticagrelor in patients with acute coronary syndrome treated with percutaneous coronary intervention