View clinical trials related to Congenital Abnormalities.
Filter by:This study will explore the medical problems in patients with VACTERL association and identify gene changes that might be responsible for them. VACTERL association can affect many parts of the body, including the bones of the spine, the heart, the lower intestinal tract, the connection between the trachea and esophagus, the kidneys and the arms. Information from this study may lead to a better understanding of the disease and improved treatment and genetic counseling. Patients with VACTERL association and their parents and siblings may be eligible for this study. Patients are admitted to the NIH Clinical Center for evaluation over 3 to 4 days that may include the following procedures: - Physical examination, medical history, electrocardiogram (EKG), blood and urine tests - Eye examination - Imaging studies (echocardiogram, x-rays and ultrasound tests) - Other specialized tests or consultations as indicated - Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes - Optional return visit after 2 years for repeat testing and to look for changes over time Parents of patients have the following procedures: - Physical examination, medical history, blood tests and x-rays, if needed - Specialty consultations as indicated - Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes - Questionnaires about their child s medical history, growth, behavior and development, therapy and medication Siblings of patients have the following procedures: - Physical examination, medical history and blood tests
This study will use a factorial design randomized controlled trial to (1)compare multi-faceted decision support (intervention) to streamlined clinical alerts (control) and (2) evaluate whether collecting information about women's risk of pregnancy using a networked tablet computer (intervention) is superior to the way clinicians usually collect this information (control). Over the course of 1 year, we will abstract data from the electronic medical record when study clinicians prescribe teratogenic medications, conduct phone interviews with women prescribed medications by participating clinicians, and survey participating clinicians about their satisfaction with the decision support they receive. We will use this data to confirm our hypotheses that clinicians in the intervention groups will (1) prescribe fewer teratogenic medications, (2) be more likely to prescribe contraception when a teratogenic medication is prescribed, (3) have more patients report satisfaction with the counseling they received, and (4) report more satisfaction with the decision support they received.
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of the eye), genital and urinary abnormalities, mental retardation, and possibly other symptoms. This study will examine how the genes on chromosome 11 affect people and whether the absence of specific genes is associated with specific symptoms. Healthy normal volunteers, people with isolated aniridia, and people with WAGR or another chromosome 11 gene deletion may be eligible for this study. Participants must be at least 6 years old. Parents of patients may also participate for genetic studies. Participants undergo some or all of the following procedures, depending on whether they are a child, adult, healthy volunteer or parent of a patient: - Medical history and physical examination, eye examination, blood, urine and saliva tests, electrocardiogram (EKG) and electroencephalogram (EEG) - X-rays, scans and other tests to measure body composition (fat, muscle and bone development and thickness) and MRI to examine the eyes and the brain and to measure abdominal fat - Ultrasound studies of the kidneys, ovaries and uterus (in females) and testes (in males) - Meal tests, food diaries and food preference tests - Questionnaires about eating and sleep habits, personality and character traits and responses to pain and injury - Neuropsychological tests - Tests of resting metabolic rate, energy expenditure and glucose (sugar) tolerance - Hot and cold sensitivity tests, vibration sensitivity test, cold tolerance test and smell identification test - Eye and hearing tests - Nerve conduction studies and study of sensory information conduction from peripheral nerves to the spinal cord and brain - Computer photography - Evaluation by sub-specialists (e.g., endocrinologist, ophthalmologist, physiatrist, neurologist or others) as indicated by the patient s medical history and test results
Develop and evaluate a peer navigator intervention to assist Korean women with a potential breast abnormality, who have missed their first follow-up appointment, to complete all diagnostic follow-up tests.
The study evaluates two materials used for duraplasty of the posterior cranial fossa in treatment of Chiari malformation. One material (DuraGen) is a non-suturable collagen matrix that is applied over the defect if brain coverings (dura); the other (DuraGuard) is made out of bovine pericardium and has to be sutured during application. The study compares these two materials used for duraplasty of patients undergoing Chiari surgery in a prospective randomized fashion to check the rate of surgical complications associated with each material, patient's outcomes, length of surgery and the hospital stay, etc.
The clinical, radiographic, and HRQL outcomes will be compared in operative and nonoperative adult spinal deformity patients.
Pulmonary arteriovenous malformations (PAVMs) are thin-walled abnormal vessels which provide direct capillary-free communications between the pulmonary and systemic circulations. Patients with PAVMs have usually have low blood oxygen levels and are at risk of other complications including strokes, brain abscesses, pregnancy-related complications and haemorrhage. We hypothesise that the complications of PAVM patients arise from their PAVMs and not the more recognised intracardiac forms of shunting. We propose to perform echocardiograms to enable assessment of the presence of other causes of capillary-free communications between the pulmonary and systemic circulations.
The primary purpose of this study is to collect data on the incidence of congenital malformations in infants of women with an ongoing pregnancy after controlled ovarian stimulation with recombinant follicle stimulating hormone /ganirelix followed by in vitro fertilization (IVF) or intra cytoplasmatic sperm injection (ICSI), and to compare this incidence with that of a group of women who used a long protocol with a gonadotropin releasing hormone agonist as historical controls.
The purpose of this study is to compare 3D mammography with digital mammography in women with dense breasts for the detection and evaluation of masses and/or breast cancer.
To evaluate the safety and efficacy of extended dosing with mipomersen (ISIS 301012) in participants with familial hypercholesterolemia or severe hypercholesterolemia on lipid-lowering therapy who had completed either the 301012-CS5 (NCT00607373), 301012-CS7 (NCT00706849), 301012-CS17 (NCT00477594) or MIPO3500108 (NCT00794664) clinical drug trials.