Protocol Number: 00-I-0159
Patients of any age with HIE syndrome and their relatives may participate in this study. Patients will be evaluated by specialists in genetics, dermatology, bone metabolism, dental, radiology, neurology and immunology. Specific procedures may include the following: 1. Medical history and physical examination 2. Blood and urine collection for routine tests 3. Blood collection for chromosome study, for DNA (genetic) testing and for growing certain cell lines that, with special care, will not die so they can be used for testing later 4. Skin examination 5. Family history interview with genetics specialists 6. Neurology examination to test reflexes, strength, balance and movement 7. Magnetic resonance imaging (MRI) of the brain 8. Dental examination and X-rays, if needed, to look for abnormal loss or retention of baby teeth 9. Computed tomography (CT) scan of the chest to examine the lungs 10. Skeletal survey, including X-rays of the spine and several joints, bone densitometry (test to measure bone density), blood and urine tests to measure substances that indicate how fast new bone is made 11. Pulmonary function test, using a breathing machine to see what volume of air the lungs can hold 12. Skin biopsy (removal of small sample of skin tissue, under local anesthetic, for microscopic testing) for gene research purposes 13. Bone biopsy (removal of small sample of bone tissue from the hip, under local anesthetic, for microscopic examination) for research on bone fractures Patients will be followed once a year for five years. At each visit, they will have a MRI scan of the brain, CT scan of the chest, bone densitometry test, skin examination and dental examination. Patients with scoliosis will all have spine films. Family members will have a physical examination, an interview with genetics specialists, and blood tests for cell counts, measurement of immunoglobulin E, and genetic studies. Some family members will also have cell lines made.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/20/2008
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