Clinical Utility of Pediatric Whole Exome Sequencing
EncephalopathyBirth Defect8 moreThe investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.
Supervised Exercise-training in Children With Insulin Resistance or Healthy Metabolic Profile
Metabolism DisorderInsulin Sensitivity2 moreDespite exercise training decrease blood fasting glycemia in 'average' terms, there is a wide interindividual variability after exercise training explored mainly in adults but not in children. Thus, is yet unknown what baseline health status as well as the influence of what health variable may produce more/less non-responder (NR) prevalence (i.e., percentage of subjects who experienced a non-change/worsened response after training in some metabolic outcomes) after exercise training in school children.
Study of ORL-1G (D-galactose) in Patients With Glycogen Storage Disease Type 14
Glycogen Storage DiseaseType 14Study of ORL-1G in Patients With Glycogen Storage Disease Type 14
Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Urea Cycle DisordersInborn1 moreMontmorillonite (MONT) is a phyllosilicate layered mineral with unique physicochemical properties, such as swelling and cation exchange capability. The aim of this project is to study, in healthy volunteers, the in vivo ability of MONT to reduce protein intestinal uptake. Furthermore, the study analyzed in vitro the MONT ability of immobilizing proteins.
The Role of Hepatic Denervation in the Dysregulation of Glucose Metabolism in Liver Transplant Recipients...
Diabetes MellitusType 23 moreIt is believed that important brain centers send signals through the vagus nerve to the liver to suppress the amount of glucose (sugar) that gets produced. People who have received liver transplants have had their vagus nerve cut during transplantation, and many of these individuals have diabetes at one year post-transplant. The goals of this study are: to see whether metabolic control centers in the brain can still be activated normally with the medication diazoxide in patients who have had a liver transplant, and to understand whether disrupting the vagus nerve would result in excess glucose being produced by the liver (ie. a potential mechanism for why these patients develop diabetes).
The Impact of Artichoke Leaf Extract on Blood Cholesterol: Primary Study
Lipid Metabolism DisordersPycrinil® is a purified extract of the artichoke leaf. Artichoke leaf extract (ALE) has some clinical trial data suggesting benefit in the treatment of cholesterol disorders in several countries, but this effect has not been studied in a U.S. population. The investigators will give ALE or a placebo to overweight men and women with low "good" cholesterol to see if ALE increases their good cholesterol. The investigators will also make sure that ALE is safe.
The Effect of Water Intake on Glucose Regulation
Glucose Metabolism DisordersDehydration (Physiology)1 moreThere is a growing body of evidence suggesting low water intake and elevated levels of the hormone vasopressin exacerbate glucose regulation. This project will examine the physiological mechanism by which low water intake impairs glucose homeostasis. In the current proposal we aim to: 1) quantify the degree of glucose impairment as a response to elevated vasopressin due to low water intake and 2) identify the physiological mechanism by which elevated vasopressin, as a response to low water intake, impairs glucose regulation
A Single-arm Evaluation of the Effect of HCV Treatment on Cardiovascular Disease Risk
Hepatitis CThis study will assess the effect of treatment for hepatitis C virus (HCV) on cardiovascular disease risk. The study will enroll men and women who are infected with HCV and have underlying metabolic disease. All participants will receive a 12-week course of an HCV treatment (elbasvir/grazoprevir). Cardiovascular disease risk will be evaluated at baseline, week 4 on treatment, 12 weeks post-treatment, and 52 weeks post-treatment through noninvasive measurements of endothelial function, insulin resistance, liver fibrosis and steatosis, and circulating blood biomarkers.
Exclusive Breastfeeding Improves Puerperal Glucose Metabolism in Pregnant Women With Gestational...
Gestational DiabetesBreast Feeding1 moreBreastfeeding could effectively be associated with a lower risk of future type 2 diabetes (T2D) in women with gestational diabetes mellitus (GDM), but the short-term protective impact of puerperal breastfeeding on maternal metabolic recovery of GDM women remains unascertained. The investigators recruited GDM participants at 6-9 weeks postpartum and retrieved clinical diagnoses of GDM from electronic medical records. Feeding patterns were collected via phone calls. Glucose metabolism parameters and lipid profiling were performed on fasting plasma samples collected from patients 6-9 weeks postpartum (20 breastfeeding cases vs. 15 formula feeding cases).
Continous Renal Replacement Therapy With the CARPEDIEM® in a French National Cohort of 25 Neonates...
Hypoxic-Ischemic EncephalopathySepsis5 moreHistorically, CKRT and hemodialysis were performed in small infants and newborns with devices developed for adults with high rates of complications and mortality. We aim to retrospectively report the first multicenter French experience of CARPEDIEM® use and evaluate the efficacy, feasibility, outcomes, and technical considerations of this new device in a population of neonates and small infant. Compared to adult's device continuous renal replacement therapy with an adapted machine allowed successful blood purification without severe complications even in low birth weight neonates.