Active clinical trials for "Syndrome"

The research project aims to try to answer the many questions raised by the identification of new early repolarization syndrome. The questions are varied with both taking optimal clinical management of patients, the frequency and significance of this anomaly in the population on the electrophysiological and molecular basis responsible for this electrocardiographic abnormality. To try to answer these many questions, the approach will be twofold: clinical and genetic. Establishment of a clinical database containing information of patients who have been identified as carriers of the anomaly based on the initial clinical presentation in order to determine their prognoses. Physiological approach will be based on a molecular approach to identify genetic abnormalities may be involved in this syndrome. 200 asymptomatic patients and an unlimited number of patients who presented syncope or aborted sudden death will be included. A blood sample (15 ml) will be performed at inclusion.

The primary aim of the study is to investigate whether optical coherence tomography (OCT) may be a useful tool for investigating the in-vivo histology of ocular structures in patients with tear film pathology. In epiphora the investigators will image the proximal lacrimal system. In dry eye syndrome the investigators will image the lacrimal gland and also the buccal mucosa. The secondary aim of the study is to investigate the appearance of the normal cornea and conjunctiva under OCT imaging.

Evaluation of pulmonary edema is a key factor in monitoring and guidance of therapy in acute respiratory distress syndrome (ARDS) patients. To date, methods available at the bedside for estimating the physiologic correlate of pulmonary edema, extravascular lung water(EVLW), often are unreliable or require invasive measurements. The purpose of the this study is to develop a novel approach to reliably assess extravascular lung water by electrical impedance tomography(EIT).

This is a follow-up cohort study of 8 years old children born preterm at Seoul National University Children's Hospital in Korea from 2008-2009. The children will visit outpatient clinics for examinations regarding growth, obesity and other risk factors related to metabolic syndrome. The purpose of this study is to compare growth and risk factors of metabolic syndrome among children born preterm and children born healthy term at school age

COPD and sleep apnea dyspnea syndrome represent two of the most common chronic lung diseases. It is reported that the prevalence of COPD with sleep apnea dyspnea syndrome is also very high. COPD and sleep apnea may have pathological or genetics interactions so that patients having both disorders tend to have worse outcomes than either condition alone. Data reflecting the prevalence, disease course and outcome of overlap syndrome is very limited in China. Therefore, the aim of the study is to describe the prevalence, treatment and outcome in Chinese patients and exploring the underlying interaction mechanism.

The purpose of this study is to develop and applicate two new genetic deafness gene diagnostic kit for Waardenburg syndrome and large vestibular aquduct syndrome.

Previous foreign studies revealed that the IQ in Down syndrome (DS) declines with age, but not any investigation of domestic data in Taiwan was available. Individuals with DS are characterized by limited verbal development, and in this article, authors look into the diverging verbal-nonverbal abilities in the DS phenotype.

Ask the 4 carers of children with Prader-willi syndrome to disclose their experiences and difficulties for searching better management and intervention

Non-alcoholic fatty liver disease (NAFLD) is now recognised as the hepatic complication of the metabolic syndrome of insulin resistance. In some patients, the disease can progress into steatohepatitis (NASH) which associates fatty liver, hepatocellular damage, chronic inflammation and variable and progressive fibrosis. The latter can evolve into cirrhosis and end-stage liver disease. Thus the presence of fibrosis sign the severity of the disease, and therefore its accurate detection is crucial for the identification of patients in need of treatment and appropriate follow-up. To date, histological examination of a biopsy of the liver is the gold standard in the diagnosis of fibrosis. the procedure is however associated with significant complication in 0.01 to 0.1% of cases and with sampling errors because it analyses only a minimal portion fo the liver. The aim of the study is to evaluate, in a population of patients with the metabolic syndrome, whether non-invasive tests may identify those with hepatic fibrosis. At inclusion, serum tests, fibroscan (elastography of the liver by ultra-sounds) and elastography by MRI will be performed. Those tests will be repeated within 2 months. A liver biopsy will be performed if 2 out of the 3 (serum test, fibroscan or elastography) tests are suggestive of hepatic fibrosis. This study will allow to determine whether hepatic fibrosis may be detected by non-invasive means in patients with NAFLD/NASH. whether there is a correlation between non-invase tests and liver biopsy for assessment of fibrosis and it severity whether the presence of fatty liver interfere with the results of the fibroscan and the elastography. whether there are metabolic factors associated with an increased risk of fibrosis in this population.

The aim of this study is the identification of familial congenital arrhythmogenic disorders and their clinical follow-up.