Active clinical trials for "Congenital Abnormalities"

To identify genetic and environmental risk factors for congenital cardiac disease.

To identify genes involved in the pathogenesis of three types of congenital heart disease, atrial septal defects, paramembranous ventricular septal defects, and atrioventricular canal defects.

To determine genetic mechanisms responsible for congenital cardiovascular malformations.

The purpose of this research is to study a new way to test for chromosome abnormalities. Chromosomes are strands of DNA (the genetic material in the cell nucleus) that are made up of genes-the units of heredity. Chromosome abnormalities are usually investigated by staining the chromosomes with a dye (Giemsa stain) and examining them under a microscope. This method can detect many duplications and deletions of pieces of chromosomes and is very accurate in diagnosing certain abnormalities. It is not useful, however, for identifying very small abnormalities. This study will evaluate the accuracy of a test method using 24 different dyes for finding small chromosome abnormalities. Children and adults with various chromosome abnormalities may be eligible for this study, including, for example, people with developmental delay or mental retardation, abnormal growth features or growth retardation, and certain behavioral disorders. Participants will be evaluated in the clinic over a 1- to 3-day period, depending on their symptoms. All participants will be examined by a genetics specialist and will have a physical examination and possibly X-rays, computerized tomography (CT) scans, magnetic resonance imaging (MRI), ultrasound studies and medical photography. Blood will be drawn for chromosome testing-about 3 tablespoons from adults and 1 to 3 teaspoons from children. When the test results are available, participants will return to the clinic for follow-up evaluation and review of the test findings. The genetic and medical evaluations, along with their implications, will be discussed.

Primary Hypothesis: Gulf War veterans will have an equal prevalence or mean level of the following medical and psychological conditions frequently reported in the literature compared to a control group of nondeployed veterans: (1) chronic fatigue syndrome, (2) fibromyalgia, (3) post-traumatic stress disorder, (4) neurologic abnormalities, including peripheral neuropathy and cognitive dysfunction, and (5) general health status.

This study will investigate congenital or developmental eye abnormalities that affect the iris, cornea and lens, and are usually accompanied by elevated pressure within the eye. These disorders can cause vision loss, and the increased eye pressure can lead to glaucoma, a condition that may also cause loss of eyesight. Patients with eye anterior chamber eye disease, such as Axenfeld's syndrome, Rieger's anomaly, Peter's anomaly, iridocorneal endothelial syndrome, megalocornea, ocular hypertension, and others, are eligible for this study. Participants will have a medical examination, family history, and comprehensive eye examination. Tests and procedures may include photographs of the cornea, iris, and the structure through which fluid that normally circulates behind the cornea drains out of the eye. Some patients may undergo indentation tonography to measure how easily this fluid drains. In this procedure, the patient lies on an examination table and both eyes are numbed with eye drops. A small instrument (tonometer) is placed on the surface of one eye, and with the other eye, the patient looks at an overhead light. Other tests may include photographs of the back of the eye and ultrasound imaging of the structures of the eye. A blood sample may be drawn to study the genetic disorder responsible for the disease. Patients will have follow-up examinations every 6 months for the duration of the study. Medical or surgical therapy will be recommended, as appropriate, for patients who develop elevated eye pressure or vision loss.

The umbilical cord plays an essential role in intrauterine life. It is the pathway between mother, placenta and fetus during pregnancy and delivery. Complete cord occlusion often leads to fetal demise, while intermittent occlusion has been associated with intrauterine brain damage. Compression and vasospasm in utero are important factors in fetal distress. Nuchal Umbilical Cord can be diagnosed antepartum using ultrasound, but the complications are unpredictable and unpreventable

Hepatitis C virus is one of the virulent viruses

To report a case of impairment urethral coitus after the midurethral sling procedure

Congenital anomalies occur in 2-3% of births. They account for 20-30% of perinatal deaths. The aim is to assess the prevalence of fetal malformations in pregnant women attending University hospital