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Filter by:This study will investigate which areas of the brain are primarily involved in and responsible for tics in patients with Tourette's syndrome and chronic motor disorder. Tourette's syndrome is a neuropsychiatric disorder characterized by motor and vocal tics and is associated with behavioral and emotional disturbances, including symptoms of attention deficit hyperactivity disorder and obsessive-compulsive disorder. Chronic motor disorder has the same characteristics as Tourette's syndrome, except that patients do not have vocal tics. Healthy normal volunteers and patients with Tourette's syndrome or chronic motor tic disorder between 18 and 65 years of age may be eligible for this study. Candidates will be screened with a medical history and physical and neurological examinations. Participants will undergo positron emission tomography (PET) scanning to study tics under three conditions- spontaneous tics, suppression of tics, and sleep-to determine which areas of the brain are responsible for generation of tics. For this procedure, the subject is injected with H215O, a radioactive substance similar to water. A special camera detects the radiation emitted by the H215O, allowing measurement of brain blood flow. Subjects will receive up to 20 injections of H215O during the scanning. Participants will be asked not to sleep the entire night before the test. Before the scan, both patients and volunteers will have EEG electrodes placed on their heads to record the electrical activity of their brains. Patients will also have EMG electrodes placed in areas of the body where tics occur. A small catheter (plastic tube) will be placed in an arm vein for injecting the radioactive tracers, and a mask will be placed on the face to help keep the head still during scanning. The mask has large openings for eyes, nose and mouth, so that it does not interfere with talking or breathing. The entire test takes about 4 hours. During this time, the subject will sleep for 1.5 hours either at the beginning or end of the scan. For the other 2.5 hours, scans will be done every 10 minutes for 1 minute under the different conditions of tic suppression or release of tics. On a separate day, participants will also undergo magnetic resonance imaging (MRI), a diagnostic test that uses a magnetic field and radio waves to produce images of the brain. For this procedure, the subject lies still on a stretcher that is moved into the scanner (a narrow cylinder containing the magnet). ...
This study will try to learn more about complex regional pain syndrome, or CRPS (previously known as reflex sympathetic dystrophy, spreading neuralgia, and sympathalgia), by examining the release of small proteins in the blood of patients with this condition. Patients with CRPS usually have three types of symptoms: - Sensory abnormalities increased sensitivity to pain or a painful reaction to a harmless stimulus - Perfusion abnormalities alterations in blood flow, temperature abnormality, swelling, decrease or increased nail growth, and hair and skin changes - Motor abnormalities weakness, guarding (Holding the limb in such a fashion that it minimizes accidental or intentional contact from possible sources of pain), and atrophy (wasting) The cause of CRPS is unknown, and there are no definitive diagnostic tests for the condition. Because early treatment improves the prognosis of CRPS, a test that enables early diagnosis would be important for optimal medical management. The findings of this study may contribute to the development of such a test and possibly new drug treatments. Normal healthy volunteers and patients of any age with complex regional pain syndrome who are in otherwise good general health may be eligible for this study. Participants will have a medical history, physical examination and collection of a blood sample. They will fill out several questionnaires, providing information on their health, personality, mood, pain levels, and symptoms. Participation in the study requires one outpatient clinic visit.
This study will examine blood or other tissue samples from patients with Fraser syndrome and patients with Fryns syndrome to try to identify the gene responsible for these diseases. Fraser syndrome is characterized by congenital abnormalities including cryptophthalmos (lack of eyelid formation), syndactyly (webbed fingers or toes) and abnormal genitalia. Patients may also have abnormalities of the nose, ears and larynx (voice box), cleft lip or palate, and kidney agenesis. Fryns syndrome is characterized by hernia through the diaphragm, cloudy cornea, coarse facial features, cleft lip or palate, abnormal fingers and toes, heart, kidney and brain malformations and hydrocephalus (accumulation of fluid around the brain). This protocol consists of laboratory study only; it does not involve patient care or patient counseling. Patients with Fraser syndrome or Fryns syndrome are eligible for this study. Parents and healthy siblings of patients will also be included for genetic study, and parents of children with undiagnosed multiple congenital anomalies syndromes will be included for comparison study. Participants will provide a blood sample (about 8 to 10 teaspoons from adults; 1 to 3 teaspoons from children) or sample of skin cells collected by swabbing the inner surface of the cheek. Some patients may undergo a skin biopsy, in which a small skin sample (about 1/8-inch in diameter) is surgically removed. The tissue samples will be used to obtain DNA (genetic material) for laboratory testing. A permanent cell line-a collection of cells grown in the laboratory from the original tissue specimen-will also be established to enable additional testing in the future.
The study is designed to assess the efficacy of an investigational drug called SR121463B (vasopressin receptor antagonist) in the treatment of low levels of sodium in the blood associated with the Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH). This double blind period study is followed by 2 open label extension studies with flexible doses of satavaptan.
The Carpal Tunnel Syndrome Diagnosis and Treatment Trial is project #1 of the Multidisciplinary Clinical Research Center focused on upper extremity pain. It is a randomized trial comparing surgical and nonsurgical treatments for patients with early, mild to moderate carpal tunnel syndrome. In addition the study will evaluate the ability of a new magnetic resonance (MR) technique at predicting who will likely benefit from carpal tunnel syndrome (CTS) surgery.
This study will use magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) of the brain to try to gain a better understanding of the disease process in Tourette s syndrome, a neuropsychiatric disorder characterized by motor and vocal tics. Tourette s syndrome is also associated with behavioral and emotional disturbances, including symptoms of attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). MRI and MRS show chemical substances in the brain. Findings in normal volunteers will be compared with those of patients. Healthy volunteers and patients with Tourette s syndrome 14 years of age and older may be eligible for this study. Volunteers will be screened with a medical history and physical and neurological examinations. Patients will be screened through NINDS protocol 93-N-0202. Participants will undergo MRI and MRS. MRI uses a strong magnetic field and radio waves to visualize brain anatomy and chemistry. For this study, the subject lies on a stretcher, which is moved into a strong magnetic field (the MRI scanner). Earplugs are worn to muffle loud thumping noises caused by the electrical switching of the radio frequency circuits. During the study, the subject lies still during each scan, for 1 to 8 minutes at a time. Total scanning time varies from 20 minutes to 2 hours, with most examinations lasting between 45 and 90 minutes. The subject can speak through an intercom with the staff member performing the study at all times during the procedure. Up to 5 studies may be performed.
This study will explore the role of various immune factors involved in producing the disease symptoms in stiff-person syndrome (SPS) and follow disease progression in patients. SPS is a progressive disease in which unexpected noises, touches or stressful events set off muscle spasms and stiffness. It is thought to be an autoimmune disease in which the body produces antibodies that attack certain healthy tissues. A better understanding of the disease may help researchers design new therapies. Patients of any age with SPS may be eligible for this study, except those who: - Lack of serum anti-GAD antibodies - Have very advanced disease that precludes traveling - Have severe cardiovascular, renal, or other end-organ-disease states Candidates will be screened with a medical history and physical and neurological examinations to confirm the diagnosis of SPS. After screening, those enrolled in the study will be followed at the NIH Clinical Center every 6 months for 2 years (months 6, 12, 18, and 24) to have the following tests and procedures: - Physical and neurological examinations and review of symptoms (every visit) - Blood draw for routine tests and for research studies (every visit) - Stiffness assessment (every visit) - Patients are asked a series of questions about their stiffness, which physicians rate according to the number of stiff areas (e.g., 0-no stiff areas; 1-stiffness of the lower trunk; 2-stiffness of the upper trunk, etc.). - Lymphapheresis (at the beginning of the study and at 12 months) - This is a procedure for collecting large quantities of white blood cells. A needle is placed in a vein in the arm. Blood flows from the vein through a plastic tube (catheter) into a machine that spins the blood, separating it into its components. The white blood cells (lymphocytes) are removed, and the rest of the blood-plasma, red cells and platelets-is returned to the body through a second needle placed in the other arm. - Electrophysiologic studies - These studies include electromyography and nerve conduction testing. For electromyography, a small needle is inserted into a few muscles and the patient is asked to relax or to contract the muscles. The electrical activity of the muscle cells is recorded and analyzed by a computer. For nerve conduction testing, nerves are stimulated through small wire electrodes attached to the skin, and the response is recorded and analyzed. - Lumbar puncture (at the beginning of the study and at 12 months) - This procedure is done to examine the cerebrospinal fluid (CSF), which bathes the brain and spinal cord. After a local anesthetic is administered, a needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord. About 2 tablespoons of fluid is collected through the needle.
RATIONALE: Thalidomide may be an effective treatment for anemia caused by myelodysplastic syndrome. PURPOSE: Randomized phase II trial to study the effectiveness of thalidomide in treating anemia in patients who have myelodysplastic syndrome.
This is a study to determine the response rate in patients with myelodysplastic syndromes treated with calcitriol and dexamethasone.
Although most patients with hypercortisolism can be diagnosed and treated the long-term effects of hypercortisolism and its treatment are unknown. This study will attempt to answer the following questions: 1. What is the rate of perioperative complications? Patients with Cushing syndrome often undergo transsphenoidal surgery of the pituitary gland as treatment for the disease. During this surgical procedure the pituitary gland is reached by passing through the sphenoid bone. The risk for patients to develop hypopituitarism in the immediate postoperative period is unknown. Patients with Cushing syndrome have abnormal levels of hormones circulating in the blood and affects of the surgery are often not apparent until long after the procedure. 2. What is the recurrence rate? The recurrence rate of the disease has been estimated between 5 - 10%. However, these figures have not been confirmed. If the actual rate of recurrence is higher than estimated many patients may elect to undergo radiation therapy which has a lower rate of recurrence. 3. Do any factors in the immediate postoperative period predict who will experience a recurrence of Cushing syndrome? 4. What are the long-term complications of hypercortisolism? Studies have shown that patients with hypercortisolism have a four times greater risk of death than people of the same age without hypercortisolism. Researchers tend to believe this figure is too high. However, it is well established that hypercortisolism weakens bones (decreased bone density), causes secondary hypogonadism, increases levels of fat in the blood (hyperlipidemia), and decreases thyroid function (hypothyroidism). The potential for these conditions to be reversed is not known. These questions will be addressed by blood and urine sampling in the postoperative period, and by outpatient follow-up and periodic questionnaires in the first 10 years after curative surgery for Cushing syndrome performed at the NIH.