
Copeptin After Arginine Infusion in Polyuria-Polydipsia Syndrome
HealthyPolyuria-polydipsia Syndromethe purpose of the study is to investigate whether arginine infusion is a new tool to differentiate patients with diabetes insipidus, primary polydipsia and healthy subjects.

PREPL in Health and Disease
Hypotonia-Cystinuria SyndromeMuscle Hypotonia5 moreEvaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients

Paroxysmal Nocturnal Hemoglobinuria (PNH), Level of CD59 on Red and White Blood Cells in Bone Marrow...
HemoglobinuriaExamine red and white blood cells of PNH patients with bone marrow failure syndromes.

Stress-induced Vascular Dysfunction: Evaluation of Endothelial Function in a Cohort of Patients...
Takotsubo SyndromeThe aim of this prospective single-center study is to evaluate endothelial function, arterial compliance, sympathetic nervous activity at rest and after mental and physical stress, carotid atherosclerosis, oxidative stress parameters, quality of life and platelet adhesion in patients with apical ballooning syndrome and age-matched controls.

Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases
Denys-Drash SyndromeFrasier Syndrome2 moreThe Wilms' tumor suppressor gene 1 (WT1) encodes for a transcription factor which plays an important role during urogenital development. Patients carrying a WT1 germline mutation show symptoms like proteinuria, Wilms tumors, genital malformations and kidney failure. Milder variants are possible and classification is not always possible. In this registry we are collecting detailed clinical data of affected individuals to establish genotype-phenotype correlations with the greater goal to optimize patient care.

Clinical Interventions in Respiratory Distress Syndrome and Neonatal Lung Injury - SCOR in Lung...
Lung DiseasesRespiratory Distress Syndrome1 moreTo 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).

Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Joubert SyndromeCerebello-oculo-renal SyndromesPrimary objective: assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS) Secondary objective: assessment of the prevalence of CEP290 mutations and NPHP1 homozygous deletions in JS/CORS caracterization of mutational spectrum of AHI1, NPHP1, CEP290 genes in JS/CORS. evaluation of genotype-phenotype correlation in JS/CORS.

Early Diagnosis in Glaucoma With GDxVcc
Exfoliation SyndromeTo 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

Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)
PHACE SyndromePHACE 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.

Assessing Inherited Markers of Metabolic Syndrome in the Young
Metabolic SyndromeDiabetes Mellitus2 moreThe AIMM Young study is a collaboration between Children's National Medical Center (CNMC) and colleges/universities nationwide--currently including Howard University (HU), East Carolina University (ECU), and University of Massachusetts, Amherst (U Mass). This study obtains a variety of baseline measures (such as serum biomarkers related to metabolic syndrome, anthropometrics, muscle strength, and fitness testing) along with genetic information from healthy college-age (18-35 years) young adults in efforts to identify phenotype-genotype associations that may predispose individuals to developing metabolic syndrome, type 2 diabetes, and/or related diseases such as obesity. We hypothesized that certain genetic variations will be protective against metabolic syndrome, while others will show a strong correlation with specific components of metabolic syndrome disease. We expect that the study of "pre-symptomatic," young individuals will facilitate the identification of genetic risk loci for metabolic syndrome and type 2 diabetes. Younger populations typically have less confounding variables, and this facilitates normalizing of metabolic syndrome features and environment/lifestyle. Additionally, young subjects can provide more robust longitudinal data, and be recruited into subsequent interventions to reverse the trend towards metabolic syndrome, rather than the more difficult task of reversing type 2 diabetes in older populations. The data collected will be stratified according to gender, age, ethnicity, genotype, and other phenotypic measures to determine how these factors influence disease risk.