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Lowe syndrome is associated with mutations in the OCRL1 gene, which encodes OCRL1, a phosphatidylinositol-4, 5-bisphosphate (PtdIns(4, 5)P (2))5-phosphatase. PtdIns(4, 5)P2, a substrate of OCRL1, is an important signaling molecule within the cell. An abnormal rate of hemorrhagic …

Sexual dysfunction is a common side effect of medical and surgical treatments for rectal cancer. It can manifest as ejaculation disorders or erectile dysfunction. Due to the modesty of both patients and doctors, these disorders are poorly understood and probably underestimated at…

This study will collect bone, cartilage, tendon, ligament, skin and fat tissue from patients undergoing surgery at Children's National Medical Center in Washington, ...

This is a single-center, prospective, open label study in islet transplant recipients following islet graft loss.

The aim of the study is to determine the impact of aging, circadian rhythms and sleep deprivation on executive performances. Volunteers will complete a 40-hour extended wakefulness period in constant condition (semi-recumbent posture in bed, constant dim light levels \< 10 lux, f…

This study will investigate HIV infection and associated conditions by monitoring infected patients. The study will also serve as a means for recruiting HIV-infected individuals to NIAIDs ongoing clinical and laboratory studies and supporting the institute s infectious disease tr…

Arterial occlusion can lead to tissue ischemia and, if prolonged, end organ infarction. Clinical and experimental data would suggest that restoration of blood flow might trigger additional injury beyond that induced by the ischemia alone, so called Ischemia Reperfusion (IR) injur…

The aim of the study is to establish the existence of a relationship between the dietary intake of polyunsaturated fatty acids (PUFA) and the risk of colorectal cancer in humans, using 2 reliable and complementary biomarkers: the fatty acid-composition of lipids of the abdominal …

The purpose of the study is to investigate the clinical benefit of tramadol/acetaminophen versus non-steroidal anti-inflammatory drugs (NSAID) (diclofenac 50 milligram \[mg\]) in the treatment of pain in participants with ankylosing spondylitis (inflammation of the spine causing …

The overall aim of this research is to utilize wound derived inflammatory cells from diabetic versus non diabetic human chronic wounds to understand mechanisms that are responsible for disregulated inflammation in individuals with diabetes. Biology of normal (peripheral blood der…

This study will allow National Eye Institute (NEI) doctors the opportunity to examine people with eye disease, whether the diagnosis is known or not, to determine if they are eligible for other NEI research studies. No treatment is offered in this study. People of all ages with …

The objective of this study is to evaluate the outcomes of children who have sustained blunt renal injury and to evaluate our current bed rest protocol. The variables of concern are readmission, operation, subsequent hypertension and clearance of hematuria. The specific aim of th…

The purpose of this study is to collect and store normal and malignant tissue from patients with gastric cancer, GIST, esophageal cancer, pancreas cancer, hepatocellular cancer, biliary cancer, neuroendocrine, peritoneal mesothelioma, anal cancer and colorectal cancer, an estimat…

The purpose of the study is to assess precision of the GE Lunar iDXA, Hologic Horizon W DXA scanner, and the Stratec peripheral quantitative computed tomography (pQCT) scanner. Aim 1: To assess standard deviation (SD) and coefficient of variation (CV) of testing bone mineral, bo…

This study is a 5-year extension of the AREDS protocol, in which investigators followed the natural course of age-related macular degeneration (AMD) and cataracts. Participants in the former AREDS protocol are eligible for this study. Participants have a complete eye examination…

This is a registry study. This is an observational, non-randomized, open, long-term project to collect biological samples (e.g. tissue and blood samples) in addition to clinical information and laboratory test results, from end-stage patients who undergo LVAD implantation and/or …

to evaluate the acceptability of CT-colonography compared to colonoscopy for the detection of advanced adenomas in subpopulations at high risk of colorectal.

Objectives: Smokers with varying levels of health literacy as assessed by the S-TOFHLA (i.e., inadequate, marginal, adequate) recruited from the community will listen to one of 4 different types of messages emphasizing the health consequences of smoking recorded on a computer in…

The American Heart Association and the American College of Cardiology (AHA/ACC) recently encouraged "increased consumption of omega-3 fatty acids in the form of fish or capsule form (1 g/day) for risk reduction" and stated that "for treatment of elevated triglycerides, higher dos…

This study evaluates the ability of ultrasound to measure the movement of tendons and nerves within the human carpal tunnel.