View clinical trials related to Congenital Abnormalities.
Filter by:Turners Syndrome is a genetic condition in females that is a result of abnormal chromosomes. Girls with Turner syndrome are very short as children and as adults. Although their growth hormone secretion is almost always normal, giving injections of growth hormone to Turner syndrome girls may increase their rate of growth. In addition, most girls with Turner syndrome do not have normal ovaries. In normal girls the ovaries begin producing small amounts of the female sex hormone, estrogen at about 11 - 12 years of age. As girls grow older the level of estrogen increases. Estrogen is responsible for the changes in girls known as feminization. During feminization the hips grow wider, the breasts develop, there is an increase in the rate of growth, and eventually girls experience their first menstrual period. This study was designed to evaluate the effect of low dose estrogen, growth hormone, and the combination of low dose estrogen and growth hormone on adult height in girls with Turner syndrome. Patients will be entered into the study from ages 5 to 12 and will be randomly placed into one of four groups. 1. Group one will receive low dose estrogen 2. Group two will receive growth hormone 3. Group three will receive both low dose estrogen and growth hormone 4. Group four will receive a placebo "sugar pill" Once started, the treatment will continue until the patients approach their adult height, and growth slows to less than 1/2 inch over the preceding year. This usually occurs by the age of 15 or 16. Patients will be seen at the outpatient clinic every 6 months during the study and will receive a routine check-up with blood and urine tests, and hand/wrist X-rays to determine bone age. On patient's yearly visits they will have the density of bone measured in their spine and forearm.
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.
To evaluate the effects (up to one year of age) of indomethacin on the clinical course of patent ductus arteriosus (PDA) in premature infants (24 hours old or less) and to assess the relative merits of indomethacin and surgery in infants with persistent respiratory distress who were not treated early with indomethacin. Two concurrent trials were performed.
To compare the influence of two surgical anesthetic techniques, hypothermia with circulatory arrest or hypothermia with low-flow bypass perfusion, on neurologic functioning in infants undergoing heart surgery.
Adults with cyanotic congenital heart disease have elevated levels of plasma proatrial natruretic peptide (proANP) which most likely results in chronic dehydration, leading to reduced oxygen transport to tissues and shortness of breath with activity. The purpose of this study is to characterize adults with cyanotic congenital heart defects with respect to their body composition (water and fat-free mass) and resting metabolic rates. The study consists of several measures of how much body water, fat and lean tissue a subject has, and measures the number of calories the subject's body uses at rest. Adult subjects with cyanotic congenital heart disease will be recruited along with healthy noncyanotic control subjects matched for age, gender, and body weight.