View clinical trials related to Syndrome.
Filter by:To determine the safety and effectiveness of pyridoxylated hemoglobin polyoxyethylene conjugate (PHP) administered by continuous intravenous (IV) infusion in systemic inflammatory response syndrome (SIRS) patients with shock. PHP is a human-derived chemically modified hemoglobin preparation. PHP selectively scavenges excess nitric oxide (NO) and does so in a catalytic, concentration-dependent reaction that results in the formation of the non-toxic NO metabolite, nitrate. PHP is postulated to reduce excess, toxic levels of NO while allowing critical beneficial levels of the molecule to persist.
Since 1960, persons with the very rare disorder Bloom's syndrome (BS) have been followed clinically, documenting clinical matters as obtained from their doctors. This has been a worldwide search for cases, though a few in the New York City area are seen (personally, by us) perhaps once every 2-3 years. BS is a rare genetically-determined disorder described in NYC in 1954. The clinical courses of the 169 persons diagnosed BS by 1991 are followed in a program referred to as the Bloom's Syndrome Registry. BS is the prototype of the "chromosome-breakage syndromes." BS cells mutate at a greater rate than any other, and the consequence is the greatest known predisposition to cancers of the types that affect the general human population. We are defining the clinical syndrome and at the same time are studying cells from affected families in the experimental laboratory. BS is a model for learning about cancer. Our contact with families lets us know of cancers arising, but blood, and sometimes tiny biopsies of skin, is taken if available so that (a) the chromosomes can be studied and (b) the gene mutations can be defined in molecular terms.
RATIONALE: Drugs used in chemotherapy use different ways to stop cancer cells from dividing so they stop growing or die. PURPOSE: Phase II trial to study the effectiveness of arsenic trioxide in treating patients who have myelodysplastic syndromes.
More than 10,000 people each year in the United States have "failed back surgery syndrome" caused by scars that form around the outer surface of the spinal cord. Such scarring, known as peridural fibrosis, is common after back surgery known as either lumbar discectomy or laminectomy. Peridural fibrosis may cause recurring low back pain or leg pain after surgery. Operating again to remove the scar tissue often leads to more scarring. Researchers have not previously studied radiation as a way to prevent peridural fibrosis. We will test whether low-dose radiation given 24 hours before surgery will decrease the amount of peridural fibrosis and if this reduction will lead to improved results of surgery. Half of the participants will receive radiation before surgery and the other half will not. We will evaluate patients at followup visits 1, 3, 6, and 12 months after surgery with a physical exam and questionnaire. At 12 months, we will obtain magnetic resonance imaging (MRI) of the lower spine.
This study will examine the effect of pegvisomant on growth hormone excess in patients with McCune-Albright syndrome (MAS). Patients with this disease have polyostotic fibrous dysplasia-a condition in which areas of normal bone are replaced with fibrous growth similar to scar tissue, abnormal skin pigmentation (birth marks) and precocious (early) puberty. About 10 percent of patients have excess growth hormone (GH). GH stimulates the production of another hormone called insulin-like growth factor 1 (IGF-1). Together, GH and IGF-1 affect bone growth. The excess of these hormones in MAS can cause overgrowth of the bones of the face, hands and feet, excess sweating, or increased height. Pegvisomant is a synthetic drug that binds to cell receptors where GH would normally bind, thus preventing the naturally occurring hormone from stimulating IGF-1 and bone growth as it normally would. This study will see if pegvisomant will reduce blood levels of IGF-1 and mitigate the effects of growth hormone excess, including bone pain, bone turnover, hand and foot swelling and sweating, and abnormal levels of related hormones. Patients who were screened for polyostotic fibrous dysplasia and MAS under NIH protocol 98-D-0145 and were found to have MAS with excess growth hormone are eligible for this 36-week study. The screening protocol includes a history and physical examination, blood and urine tests, hearing, eye and dental examinations, pain and physical function evaluations, endocrine and bone screening tests, various bone imaging studies, including magnetic resonance imaging (MRI) and computed tomography (CT) scans and bone biopsy in patients over 6 years old. Participants in the current study will receive daily injections of either pegvisomant or placebo (an inactive substance) for 12 weeks, followed by a 6-week "washout" period with no drug. Then, patients who received placebo will be switched, or "crossed over," to receive pegvisomant for another 12 weeks, and those who received pegvisomant will receive placebo. This will be followed by another 6-week washout period. The drug and placebo will be injected under the skin, similar to insulin injections. Blood and urine tests will be done at the beginning of the study and repeated every 6 weeks until the study ends.
This study will examine the safety and effectiveness of a single dose of anti-interleukin-5 antibody (SCH 55700) in reducing the number of eosinophils (a type of white blood cell) in patients with hypereosinophilic syndrome. Patients with this disease have too many eosinophils in the blood and in body tissues, which cause damage to the affected organs-most commonly the heart, nerves and skin. SCH 55700 is an antibody to interleukin 5-a hormone-like substance produced by white blood cells that plays a significant role in eosinophilia. SCH 55700 has lowered eosinophilia blood counts in patients with asthma and reduced the number of these cells in tissues of animals with asthma. Patients with hypereosinophilic syndrome 18 years of age and older who have not responded to standard therapy with steroids, interferon and hydroxyurea or cannot take these drugs may be eligible for this study. Candidates will be screened with a medical history, physical examination, eye examination, and blood tests. Depending on the patient's symptoms, other diagnostic tests may be done, including studies of the eyes, lungs, skin, nerves or heart. Skin biopsy and bronchoalveolar lavage may be included in the diagnostic evaluation. For the skin biopsy, a small area about 1/3 inch in diameter is numbed and a small core of skin is surgically removed for study under the microscope. Bronchoalveolar lavage involves inserting a catheter (flexible tube) into the lungs to instill saline (salt water) and obtain a tissue sample. This test will be done only if clinically necessary. Those enrolled in the study will be admitted to the NIH Clinical Center for a single dose of SCH 55700, injected into an arm vein. They will be monitored in the hospital for at least 72 hours for changes in eosinophil count and side effects of the injection. After discharge, laboratory tests will be done weekly for the first month, either at the Clinical Center or by the patient's local physician. Follow-up visits will then be scheduled monthly for 1 year or until the patient's eosinophil count returns to pre-treatment levels for 2 consecutive months. Follow-up visits will include a history, physical examination and blood tests, including studies on how immune cells and other substances in the blood activate or stimulate eosinophilia. A chest X-ray, electrocardiogram and pulmonary function tests will be done at 1, 3, 6 and 12 months to evaluate organ damage. Other tests may be done if medically indicated. Bone marrow biopsy and aspiration will be done before receiving SCH 55700 and one month after the injection to evaluate the effects of SCH 55700 on eosinophil production in the bone marrow. For this test, an area of skin and bone is numbed and a very sharp needle is used to withdraw a sample of the bone marrow. Leukapheresis will also be done before and 1 month after SCH 55700 treatment to obtain cells for studying the effect of SCH 55700 on eosinophil activation, function and survival. For this procedure, whole blood is collected through a needle in an arm vein. The blood circulates through a machine that separates it into its components. The white cells are then removed, and the rest of the blood is returned to the body, either through the same needle used to draw the blood or through a second needle placed in the other arm.
RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations. It has been shown that SLOS is caused by a specific defect in DHCR7, an enzyme used in cholesterol metabolism. Studies have already been done to determine the frequency of the SLOS-causing mutations in various geographic Caucasian populations. This study will investigate the frequency of the DHCR7 mutations in the African American population. If the frequency observed suggests that SLOS cases are not being identified in this ethnic group, the study will provide the rationale for future studies to identify these patients. The sample size will be 1,600. The study population will consist of archived biological specimens in the form of newborn screening blood spots from two newborn screening centers, one in Maryland and one in Pennsylvania. Subjects will be of African American ethnicity, including blacks of African, Caribbean, and Central American descent. Genomic DNA will be extracted from blood spots and screened for the six common SLOS mutations. If SLOS syndrome is found, followup will be attempted for the Maryland samples (the Pennsylvania samples will be totally anonymous).
RATIONALE: Immunosuppressive therapy may improve bone marrow abnormalities and may be effective treatment for myelodysplastic syndrome. It is not yet known whether immunosuppressive therapy is more effective than supportive care in treating myelodysplastic syndrome. PURPOSE: Randomized phase II trial to compare the effectiveness of antithymocyte globulin with that of supportive care in treating patients who have myelodysplastic syndrome.
Hearing loss and loss of vision can be very harmful to the well-being and life of people who suffer from them. Usher syndrome is the name of a disease where people have both hearing loss and visual loss. In fact more than half of people who are deaf and blind have Usher syndrome. In this study we are trying to find the causes of all types of Usher syndrome and to learn more about how the eyes and ears work. Usher syndrome is caused by changes in our genes that lead to mistakes in the functioning of our eyes and ears. We may conduct hearing tests called audiograms to test hearing and a vision test called an electroretinogram (ERG) to test how well the retina (the part of your eye that senses light) is working on participants in the study. From these tests we can tell what kind of Usher syndrome a participant may have. We will then get DNA from participants by drawing blood. The DNA will be studied, along with DNA from members of the participant's family and other families, to try to find the gene that is causing Usher syndrome in the participant. Once the gene is found we will be able to study it to learn more about how the eyes and ears work. If a subject has already been diagnosed we may just need copies of their medical records and blood can be drawn locally. In order to increase the power of the study and the likelihood of detecting relevant genes participants will be taken from the Ashkenazi Jewish population group only. This will make it much easier to find the genes.
RATIONALE: Immunosuppressive therapy may improve bone marrow abnormalities and may be an effective treatment for myelodysplastic syndrome. PURPOSE: Phase II trial to study the effectiveness of antithymocyte globulin plus cyclosporine in treating patients who have myelodysplastic syndrome.