
Ammonia Metabolism Assessed by Ammonia Infusion
Ammonia; Metabolic DisorderLiver Failure1 moreThe present study will develop a method to assess ammonia metabolism by ammonia infusion and investigate ammonia production and clearance in healthy individuals and in patients with liver cirrhosis.

Assessing the Impact of the COVID-19 Lockdown on Metabolic Control and Access to Health Care in...
Diabetes MellitusCoronavirus Infection2 moreThe outbreak of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the COVID-19 (Coronavirus Disease-2019) in December 2019 has led to an unprecedented international health situation. Exceptional measures have been taken by public authorities worldwide in order to slow the spread of the virus and prevent healthcare systems from becoming overloaded. In France, a national lockdown has been established during approximately 2 months to increase social distancing and restrict population movements. Hospital routine care appointments have been cancelled, in order to reallocate medical resources towards COVID-19 units and limit contacts between patients within hospitals or waiting rooms. While the virus itself, the disease and potential treatments are currently extensively studied, little data are available on the effect of these public health decisions on the management of a chronic condition such as diabetes. The French regional CONFI-DIAB study aims at assessing the collateral impact of routine care cancellation during the national lockdown due to COVID-19 in patients with a chronic condition such as diabetes. Special attention will be given to metabolic control and access to health care. This cross-sectional study should provide information on the consequences of a global lockdown and the associated routine care cancellation on the management of diabetes, and inform future decision making in the event of a new pandemic.

The Effect of Adding Smartphone-based Platform to the Bariatric Surgery Preparation Process
Bariatric Surgery CandidateNutritional and Metabolic DiseasesA randomized controlled trial on 40 bariatric surgery candidates who will be randomized into two arms (app vs. control). All the participants will receive the standard care of 3-6 preparation to bariatric surgery meetings with a dietitian, and only those participants who will assigned to the experimental group will get access to our study's smartphone app site during this period. Evaluations will be performed at baseline, at the end of the intervention phase (after 3-6 meetings as needed) and at 1 and 2 years post-surgery (data will be collected at 1 and 2 years post-surgery by phone calls). Data which will be collected for this study include:demographics and medical data, anthropometrics including body composition analysis, handgrip Strength, physical activity, hydration state, bariatric surgery knowledge questionnaire, quality of life by visual analogue scale, compliance to dietary and lifestyle BS recommendations, readiness for surgery, the subject's experience regarding the smartphone app, surgical data and adherence to post-surgical follow-up by the bariatric team.

Metabolic Complications Following Knee Injury in Young and Middle Aged Patients
Glucose Metabolism DisordersLipid Metabolism Disorders1 moreIntroduction This study evaluates the effect on glucose, lipid and bone metabolism following knee orthopedic procedures in healthy and physically active individuals. The sedentary rehabilitation period following these procedures may impact negatively on glucose, lipid and bone metabolic pathways, whereas the more physically active rehabilitation period instituted 6 weeks after surgery is hypothesized to impact positively. Perspective This study will establish whether the well-known effects on glucose, lipid and bone metabolism of a sedentary lifestyle can be observed already following 6 weeks of physical inactivity in otherwise healthy and physically fit young and middle aged individuals. Investigators will thereby add knowledge to previous findings following strict bed-rest in healthy individuals on glucose, lipid and bone metabolism. In a clinical perspective it is important to examine the extent to which healthy individuals deteriorate in various metabolic pathways to better understand the pathophysiology behind these defects both in healthy individuals and in patients, who undergo bed rest or an equal reduction in physical activity as part of their rehabilitation. Study design 16 physical active non-diabetic individuals of age 18 - 50 years who are undergoing knee surgical procedures at the Arthroscopic Center at Amager/Hvidovre Hospitals are recruited as cases for this case-control study. 10 non-diabetic control subjects matched for age, gender and physical activity are recruited to establish a reference level. The individuals will bring in morning spot urine for measurement of soluble urokinase plasminogen activating receptor (suPAR), creatinine, albumin and orosomucoid. Weight and height and waist and hip circumference will be measured. Oral glucose tolerance test (OGTT) with ingestion of 75 g glucose during 5 min from baseline (0 min). Plasma for glucose, insulin, C-peptide, non-esterified fatty acid (NEFA) will be drawn Before OGTT blood will be drawn for measurement of HbA1c, total cholesterol, LDL, HDL, triglyceride, Na, K, creatinine, hemoglobin (HgB), C-reactive protein (CRP), leukocytes, alanintransaminase (ALAT), alkaline phosphatase, Ca++, D vitamin, TSH, bone turnover markers (BTM), suPAR, interleukin 6 (IL6), TNFa, high-sensitivity C-reactive protein (hsCRP), lipid density profiling and lipid particle size. Dual energy X-ray absorptiometry (DXA) of hip, lumbar columna, visceral and subcutaneous fat is measured by Hologic Discovery scanner.

Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)
TyrosinosisHepatorenal Tyrosinemia3 moreDevelopment of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)

BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible...
Hurler SyndromeInherited Metabolic Disorder3 moreProviding access of BPX-501 gene modified T cells and rimiducid to pediatric patients who do not meet the eligibility criteria of the BP-U-004 study.

Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical...
Hematologic MalignanciesInborn Errors of Metabolism Disorders1 moreThe objective of this study is to make T-cell depleted stem cells from a family member who is a half match (haplo-identical) available on an expanded access basis to patients receiving one or two unrelated cord blood transplants who are at a higher risk of not engrafting in a safe amount of time. The purpose of the related stem cells is the give the bone marrow a "jump start" towards recovery. Ultimately, the cord blood cells will grow and permanently rescue the bone marrow.

Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and...
Congenital Metabolic DisorderAcute DiseaseUnder the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Besides, it can identify the genetic factor of idiosyncrasy or susceptibility to explain the medical difficulties and give patients personalized advice.

Impairment in Glucose Homeostasis Among Obese Adolescents in High Risk Diabetes Prone Population...
Glucose Metabolism DisordersObesity is increasing all over the world in adults, adolescents and children,and is followed by morbidity, including the metabolic syndrome. Hypothesis: Among obese adolescents there is a subgroup with impaired glucose homeostasis The aim of the study is to identify adolescents with impaired glucose metabolism, 12-18 years, among high risk diabetes prone population, for diagnosis and treatment.

Cirrhosis-Diabetes
Glucose Metabolism DisordersGlucose metabolism disorders (GMD) can be present in an overt and a subclinical way. They have negative impact in survival of patients with liver cirrhosis (LC). Their prevalence has not been determined in compensated cirrhotic patients.