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Background: - Heart disease is the leading cause of death in the United States. Eating fruits and vegetables with chemicals called flavonoids may protect against heart disease and improve blood flow to the heart. They are found in blackcurrant berries. Oils found in fish and mussels called omega-3 fats have also been shown to protect the heart. Researchers want to know if blackcurrant extract and omega-3 fats can improve blood flow, which may increase blood to the heart. They also want to learn about the health of blood vessels and how the heart works. Objective: - To learn if blackcurrant extract and omega-3 fats will improve blood flow and make the heart beat stronger. Eligibility: - Healthy adults 55 to 75 years old. Design: - Participants will be screened with medical history, physical exam, and blood tests. - Visit 1 will take 6 7 hours. - Participants will have physical exam and blood and urine tests. - A small device like a microphone will be placed on their arm to take pictures of blood vessels. A blood pressure cuff will be tightened on their arm and more pictures will be taken. - Blood pressure cuffs will be placed on their arms and legs. They will be tightened at the same time and blood pressure will be measured. - Participants will answer questions about their eating and exercise. - Every 8 weeks, participants switch from taking blackcurrant and/or omega-3 tablets to a placebo to no tablets. <TAB> - Every 8 weeks, they will have another shorter clinic visit that will repeat most of visit 1.
Background: - Patellofemoral pain syndrome is one of the most common knee problems. It is characterized by pain in the front of the knee that is aggravated by deep knee flexion, prolonged sitting, and repetitive movement. The most widely accepted theory regarding the source of this pain is that a force imbalance around the knee puts extra stress on the area, leading to pain. - Researchers are interested in learning more about the muscle groups around the knee to better understand the causes of knee pain. Objectives: - To obtain more information on how muscles, tendons, and bones work together to cause motion in the knee, both in the normal state and after immobilizing certain muscles around the knee. Eligibility: - Healthy individuals between the ages of 18 and 55, who have no current or chronic muscle, bone, or joint problems and who have no implants or other problems that would prevent them from receiving a magnetic resonance imaging (MRI) scan. Design: - This protocol will be carried out over two visits, both of which will involve using standard MRI sequences to look at the knee at rest and in motion. - The first part will examine the knee under its natural state, with a standard MRI scan of the knee both at rest and in motion. - The second part will involve temporarily reducing the force producing capabilities of one of the extensor muscles in the knee. To do so, study doctors will inject lidocaine into the muscle, which will temporarily (for approximately 2 hours) block the force producing capacity of this muscle, and then perform the MRI scan.
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.
This study will use magnetic resonance imaging (MRI) and ultrasound images to study how muscles, tendons, and bones work together to cause motion. The procedure is one of several tools being developed to characterize normal and impaired musculoskeletal function, with the goal of developing improved methods of diagnosis and treatment of movement disorders. Healthy normal volunteers must be age 5 to unlimited, with or without joint impairment, may be eligible for this study. Volunteers with joint impairment may not have serious injury to the joint being studied, previous surgery on the joint being studied, or extreme pain at the joint being studied. MRI uses a strong magnet and radio waves to create images of the inside of the body. The subject lies on a long narrow couch inside a metal cylinder (the scanner) for up to 3 hours while the scanner gathers data. Earplugs are worn to muffle loud noises caused by electrical switching of radiofrequency circuits used in the scanning process. A special pad or tube may be placed over or around the region being scanned to improve the quality of the data. The subject will be asked to repeatedly move a specific joint, such as the knee, for brief periods, usually less than 5 minutes. The subject can communicate via intercom with the person performing the study at all times during the procedure, and may request to stop the study at any time.
Effective treatment and prevention strategies for childhood stroke and porencephaly can only be developed once the causes are understood. There is increasing evidence that inherited and acquired coagulation abnormalities alone or in combination with environmental factors, predispose to arterial and venous thrombosis. Inherited abnormalities of factor V Leiden, prothrombin, protein C, protein S, and antithrombin III may account for many of these thromboses. At present there is little information on the existing distribution of these coagulation anomalies in children with thrombosis. Recent reports also suggest that these clotting abnormalities may be responsible for some instances of intracranial hemorrhage, porencephaly, cerebral palsy and fetal death. This study will measure the frequency of several coagulation factor abnormalities (factor V Leiden, prothrombin 20210A, protein C, protein S, antithrombin III, and antiphospholipid antibodies) in children with a history of porencephaly and stroke, and will compare these to the prevalence of these mutations in population controls and family members. We will also describe the exogenous conditions which in concert with these coagulation factors, may have led to the development of thrombosis in these children....
Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys. There is no known cure for SLOS but recently patients have been treated with increased amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct the abnormalities in the patient's organs, but researchers hope it will improve growth failure and mental retardation. This study was developed to answer questions about the causes and complications of SLOS, as well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed with SLOS, and their mothers. The objectives of the study will be to address the following questions: 1. <TAB> What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS? 2. <TAB> Do patients with SLOS have other problems concerning the function of their endocrine systems? 3. <TAB>What are the genetic make-ups of patients with SLOS? 4. <TAB>Can further studies of cholesterol metabolism and genetic testing, using SLOS fibroblasts, increase the understanding of SLOS?<TAB>...
The purpose of this research is to study a new way to test for chromosome abnormalities. Chromosomes are strands of DNA (the genetic material in the cell nucleus) that are made up of genes-the units of heredity. Chromosome abnormalities are usually investigated by staining the chromosomes with a dye (Giemsa stain) and examining them under a microscope. This method can detect many duplications and deletions of pieces of chromosomes and is very accurate in diagnosing certain abnormalities. It is not useful, however, for identifying very small abnormalities. This study will evaluate the accuracy of a test method using 24 different dyes for finding small chromosome abnormalities. Children and adults with various chromosome abnormalities may be eligible for this study, including, for example, people with developmental delay or mental retardation, abnormal growth features or growth retardation, and certain behavioral disorders. Participants will be evaluated in the clinic over a 1- to 3-day period, depending on their symptoms. All participants will be examined by a genetics specialist and will have a physical examination and possibly X-rays, computerized tomography (CT) scans, magnetic resonance imaging (MRI), ultrasound studies and medical photography. Blood will be drawn for chromosome testing-about 3 tablespoons from adults and 1 to 3 teaspoons from children. When the test results are available, participants will return to the clinic for follow-up evaluation and review of the test findings. The genetic and medical evaluations, along with their implications, will be discussed.