Active clinical trials for "Syndrome"

The purpose of the research study "Heart Sounds at Home" is for pregnant SSA or SSA/SSB (Sjögren syndrome B) antibody positive mothers to use a Doppler fetal heart rate monitor to detect abnormal heart rates and rhythms in their babies before they are born.

22q11.2 microdeletion seems the prenatally under-diagnosed . Indeed , there is a mismatch between the series on the heart rate of 22q11.2 antenatal 84% against 30% in the adult series despite a perinatal mortality of 16% suggesting opportunities for improvement in the prenatal diagnosis of fetus with a microdeletion 22q11.2 , especially without heart disease

Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Aetiology of ISs is widely heterogeneous including many genetic causes. Many patients, however, remain without etiological diagnosis, which is critical for prognostic purpose and genetic counselling. In the present study, the investigators performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs.

Horner's syndrome (HS) is a result of interruption of the sympathetic innervation to the eye and ocular adnexa, which can occur due to carotid artery dissection (CAD), along which the sympathetic nerve fibers travel to reach the eye. Dissection of the carotid artery is one of the etiologies for ischemic stroke in young patients. In our current study, we will explore the diagnostic accuracy of automated binocular pupillometry in the diagnosis or HS, and its potential in identifying dissection of the carotid artery in patients of young age who suffer ischemic stroke.

Neonatal acute respiratory distress syndrome(ARDS) is a rare but often severe respiratory disorder. The incidence remains unclear and mortality is about 30%-60%. It is characterized by acute, refractory hypoxemia, persistent respiratory distress and decreased lung compliance. Evaluation and comparison of various clinical studies conducted were hindered by a lack of uniformity in diagnostic criteria.

HELLP syndrome is a life-threatening obstetric complication usually considered to be a variant or complication of pre-eclampsia. And may occasionally be confused with other diseases complicating pregnancy such as acute fatty liver of pregnancy, gastroenteritis, hepatitis, appendicitis, gallbladder disease, immune thrombocytopenia, lupus flare, antiphospholipid syndrome, hemolytic-uremic syndrome, thrombotic thrombocytopenic purpura, and nonalcoholic fatty liver disease. The distinction between thrombotic thrombocytopenic purpura-hemolytic uremic syndrome and severe preeclampsia is important for therapeutic and prognostic reasons. However, the clinical and histological features are so similar that establishing the correct diagnosis is often difficult; furthermore, these disorders may occur concurrently.

The acute respiratory distress syndrome(ARDS)has a high morbidity and mortality in patients admitted to intensive care units(ICUs). It represents a significant public health issue. No large nationwide, multicenters study of ARDS has been conducted in China. The purposes of this study are to analyse: 1)the incidence and outcomes of ARDS in ICU; 2) factors associated the mortality ; and 3) risk factors for development of ARDS .

Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease. Because this disease is a rare disease most of the time it is misdiagnosed, so in this study we will check out the Prevalence of lysosomal hydrolase alpha-glagtosidase deficiency ( Fabry disease) in patients with Antiphospholipid Syndrome.

The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.

This study is conducted to observe the characteristics of the risk factors of CTS in Chinese population.