Active clinical trials for "Syndrome"

To compare the Retina Nerve Fiber Layer thickness, measured with Scanning Laser Polarimetry in subjects with exfoliation syndrome and normal controls and to evaluate the value of scanning laser polarimetry in the early diagnosis and management of exfoliative glaucoma

PHACE syndrome(OMIM database number 606519) is the association of a vascular birthmark (hemangioma) on the face along with one or more of the following conditions: congenital heart defects, congenital anomalies of the cerebral arteries,brain, eyes, or sternum. A research study is currently being conducted at the Medical College of Wisconsin (MCW) to investigate if there is an inherited cause of PHACE syndrome. We are hoping that this study will lead to a better understanding of how and why children develop PHACE syndrome.

Obesity is considered as the epidemic of the century. Central obesity is one of the metabolic syndrome's features. It has been proven that obesity can cause back pain and headaches; thus, there might be a link between chronic pain and the syndrome. The objective of this study is to assess the prevalence of metabolic syndrome in patients suffering from chronic pain.

Glaucoma is a worldwide leading cause of blindness. The key feature of this ocular neuropathy is characterized by an excavating optic nerve head. Loss of retinal ganglion cells is the final end point in blinding diseases of the optic nerve such as glaucoma. It is known that neuronal cell death in glaucoma occurs by apoptotic mechanism. In earlier studies, the investigators demonstrated that the process of apoptosis is reflected in circulating leukocytes by different parameters, like differential messenger ribonucleic acid (mRNA) expression and an increased fragmentation of the deoxyribonucleic acid (DNA). Such alterations point out a relationship between cellular stress and apoptotic events. Based on the results of mRNA-expression, the investigators also expect alterations on the protein level. This study is, therefore, designed to characterize the proteome related to the proteins involved in cell death related pathways. Thus the expression pattern of several proteins in leukocytes from patients with primary open angle glaucoma will be analyzed by techniques like Western-blot and tandem mass spectrometry. These samples will be compared with healthy controls. In addition, they will be also compared with samples from patients with Parkinson's disease. Since glaucoma is a neurodegenerative disease, these patients will be included as a positive control in this study.

The CASPER will collect systematic clinical assessments of patients and families within the multicenter Canadian Inherited Heart Rhythm Research Network. Unexplained Cardiac Arrest patients and family members will undergo standardized testing for evidence of primary electrical disease and latent cardiomyopathy along with clinical genetics screening of affected individuals based on an evident or unmasked phenotype.

Aims This study was conducted to examine the association between the ACE insertion/deletion (I/D) genotype distribution in children with idiopathic nephrotic syndrome and the response to steroid therapy. Patients and Methods The patients with idiopathic nephrotic syndrome were divided into 2 groups according to their clinical response to steroid: SS group including infrequent and frequent relapsers and non-SS group including steroid resistant (SR) and steroid dependent (SD) patients. Children without previous renal diseases and negative proteinuria were enrolled as control group in genetic study. The genotypes for ACE gene I/D polymorphism including DD, ID and II were analyzed by the newly developed automatic denaturing high performance liquid chromatography system (DHPLC).

This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure). The clinical, biological, and radiological features of adult patients are studied. In parallel, a molecular study is performed on the known genes to date (8 genes from BBS1 to BBS8) and to identify new genes involved. The parts of the study are combined in a phenotype-genotype correlation study.

The purpose of this study is to examine whether body fat distribution changes that occur with weight gain in women recovering from anorexia nervosa are transient or persistent, and if they are associated with other features of Metabolic Syndrome.

Background: - Heritable disorders of connective tissue are genetic conditions that can affect the skin and other parts of the body. They are related to mutations in genes that are responsible for building tissues. The symptoms differ among disorders. Researchers want to study which genes may be responsible for different disorders. They will be performing a long-term (up to 10 years) study and a study that requires a single visit. These studies will look at how these disorders affect the body and what genes may cause these conditions. Objectives: - To perform one-time and long-term studies of people who have heritable disorders of connective tissue. Eligibility: - Individuals at least 2 years of age who have or may have a heritable disorder of connective tissue. Design: Participants will be screened with a physical exam, medical history, and blood samples. Participants will be on one of two parts of this study. The longitudinal arm will require long-term study over about 10 years. The mutational analysis arm will involve a single visit. Longitudinal arm participants must be at least 12 years of age. They will have study visits at regular intervals for up to 10 years. The tests given at these visits may include all or some of the following: Blood, saliva, urine, and skin samples Heart and lung function tests Magnetic resonance imaging scans of the neck, chest, spine, and abdomen Other imaging studies such as x-rays, bone density scans, and ultrasounds Questionnaires about sleep, pain, and quality of life Photographs of affected areas. Mutational analysis arm participants will have a single study visit. They will provide blood and saliva samples. They will provide tissue from a skin biopsy. They will also let the researchers take photos of any affected body parts. They will complete questionnaires about sleep, pain, and quality of life.

To conduct clinical interventions directed at neonatal lung disease and injury, with a focus on infants having surfactant-deficiency or inactivation as a component of pathophysiology. A major emphasis was on the surfactant-deficient Respiratory Distress Syndrome (RDS) of premature infants, and on acute neonatal respiratory failure in term infants with pulmonary edema and potential surfactant inactivation (ARDS-related).