Active clinical trials for "Syndrome"

immunological study of the T cell repertoire phenotype and functionality in hypersensitivity syndrome.

The study aims to characterise the influence of the autonomic nervous system activity on the development of the lipodystrophy syndrome in HIV-infected patients by measuring heart rate variability and various metabolic pathways in HIV patients receiving highly active antiretroviral therapy.

In this study, individuals complete and return a mail survey, specifically a 40 item scratch and sniff smell test.

This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth. Because of the premature closure, the skull is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the sutures have not yet closed. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Patients may also have an enlarged head, abnormalities of the hands or feet, and hearing loss. The fibroblast growth factor receptor 3 (FGFR3) gene, which is involved in the development and maintenance of bone tissue, plays a role in Muenke syndrome. In some cases, the FGFR3 mutation is inherited from a parent with Muenke syndrome; in other cases, where there is no family history of the disorder, the mutation occurs anew. A better understanding of this gene may lead researchers to develop better treatments and genetic counseling for people affected by Muenke syndrome. Patients with Muenke syndrome and their blood relatives may be eligible for this study. Family members with confirmed Muenke syndrome will have genetic counseling, and patients undergo the following tests and procedures: Review of medical records and test results. Questionnaires about the patient's prenatal, birth, newborn, and past medical history; family history; growth and development; medications; and current therapies. Physical, neurological, ear, nose and throat, dental, and eye examinations. Neuropsychological testing to assess cognitive thinking abilities. Hearing evaluation. This includes an audiology test in which the patients listens to soft tones through earphones; a power reflectance test in which a chirping sound is heard through an earpiece placed at the entrance to the ear canal, and possibly an ABR/ASSR test, in which electrodes are attached to the forehead, earlobes, and behind the ears to measure brain waves in response to certain conditions. MRI scan of the brain. MRI uses a strong magnetic field and radio waves to produce detailed pictures of the brain. During the scan, the patient lies on a table in a narrow cylinder (the scanner), wearing ear plugs to muffle loud noises that occur with electrical switching of the magnetic fields. MRI scan of the middle and inner ear. This test is similar to the MRI, but uses a dye injected in a vein to enhance the images. CT scan of the skull. CT uses x-rays to produce 3-dimensional images of the part of the body studied. Dental evaluation with x-rays. Skeletal survey (x-rays of all bones of the body). Developmental assessment of IQ testing. Blood tests for research purposes. A cell line may be established for use in future research. Medical photographs to demonstrate clinical features, including side and front views of the face, head, and other parts of the body that may be involved in Muenke syndrome, like the hands and feet. Other consultations or tests as clinically indicated

Polio or poliomyelitis is the disease caused by the poliovirus. The virus attacks cells in the spinal cord and causes symptoms of fever, sore throat, headache, vomiting, and stiffness of the neck. Patients with polio can have long-term weakness of muscles as a result of the damaged cells in the spinal cord. Occasionally, patients that recover from the disease can experience a relapse of muscle weakness. This can occur as long as 25-35 years after first having polio. The condition is called "post-polio syndrome". Not all nerve cells in the spinal cord are damaged by the poliovirus. Some nerve cells remain healthy and take over the work of the damaged cells. Researchers believe that the "post-polio syndrome" may be caused by failure of these overworked nerve cells. However, what causes these overworked nerve cells to disintegrate is unknown. The purpose of this study is to apply specific scientific tests to answer important questions about the causes and development of the post-polio syndrome. Researchers will investigate possible genetic, immunologic, and physiologic causes of the "post-polio syndrome". The study itself will not provide therapy for patients with the condition, but may lead to the development of therapies in the future.

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.

The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause. It will investigate whether specific gene changes cause specific medical problems and will establish diagnostic criteria (signs and symptoms) for the individual syndromes. Children and adults with a known or suspected inherited connective tissue disorder (Marfan, Ehlers-Danlos or Stickler syndrome, or other closely related disorders) and their family members may be eligible for this study. Patients enrolled in the study will have a medical history, physical examination and blood tests, as well as other procedures that may include: Echocardiogram (ultrasound of the heart) X-rays and other imaging studies, such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans Lung function studies Urine tests Skin biopsy (removal of a small piece of tissue, under local anesthetic, for microscopic examination) Examination by various specialists (e.g., in ophthalmology, gastroenterology, rehabilitation medicine) as needed Questionnaires regarding chronic pain and fatigue, quality of life, and the impact of the connective tissue disorder on the patient and family. (Patients who wish to enroll but cannot travel to NIH may have a more limited participation, including review of medical records, telephone interview regarding personal and family history, and collection of a specimen (blood, skin biopsy, or other) for genetic testing. Patients will be notified of genetic testing results that show a change responsible for their connective tissue disorder. If they wish, the information will also be sent to their local health care provider, along with recommendations for additional tests or treatment options. No treatment is offered as part of this study. Participating family members who do not themselves have a connective tissue disorder will provide a small blood sample for gene testing and be interviewed by telephone about their personal and family health history. Those whose blood test results show a gene change associated with a connective tissue disorder will be invited to NIH for a discussion of the findings or referred to a genetic center in their area.

In 1989 more than 1500 people who took the dietary supplement L-tryptophan for insomnia and depression developed eosinophilia myalgia syndrome (EMS)-a potentially fatal disease characterized by an excess of a type of white blood cell called eosinophils. Disease symptoms include fever, muscle aches and inflammation, and skin rashes. As many as 40 of the patients who became ill died. It is suspected that impurities in the supplements caused the disease. More recently, similar impurities have been detected in batches of a similar dietary supplement called L-5-hydroxytryptophan. This study is designed to learn more about EMS that develops in patients taking L-5-hydroxytryptophan. The study is open to patients newly diagnosed with eosinophilia myalgia who have taken L-5-HTP. Patients in the study will have a physical examination and urine and blood tests. They may also have X rays, an electrocardiogram, magnetic resonance imaging (MRI), and a skin test for tuberculosis. They will have a psychiatric interview, take a memory test, and fill out questionnaires relating to sadness and depression. Patients may also undergo special tests to study conduction of nerve impulses and muscle function. Samples of patients' supplements will be taken for chemical analysis.

The predictors of re-hospitalization of patients with history of acute coronary syndrome

Whether and to what extent burnout risk is actually higher in surgical specialties than in non-surgical specialties is still unknown. Little is also known about what factors are associated with burnout between surgical residents and non-surgical residents. In this context, the present study has a three-fold aim: 1) to measure the prevalence of burnout among a sample of Italian medical residents; 2) to contrast the prevalence of burnout and psychological distress in surgical residents and non-surgical residents, and 3) to identify the work-related factors associated with burnout between surgical residents and non-surgical residents.