Search results for "030209 endocrinology & metabolism"
showing 10 items of 1146 documents
Œdème maculaire diabétique : diagnostic et bilan pré-thérapeutique
2015
A questionnaire to assess parental perception of barriers towards active commuting to school (PABACS): Reliability and validity
2019
Abstract Introduction Parental barriers are a key factor to determine physical activity behaviors, such as active commuting to school in young people. The purpose of this study was to test the reliability and validity of a questionnaire which addresses parental barriers towards active commuting to school. Methods This paper describes the development, following the Delphi method, and the validation of a Likert-scale questionnaire of 23 items (Parental Perception of Barriers towards Active Commuting to School (PABACS)) designed to determine the main parental barriers. These barriers are categorized into 3 scales (general, walking, and cycling barriers) and the overall questionnaire. A total o…
Maternal Metabolic Health Parameters During Pregnancy in Relation to Early Childhood BMI Trajectories
2018
Objective The objective of this study was to evaluate the associations between maternal metabolic parameters and early childhood BMI trajectories. Methods Two thousand two hundred fifty-one children born in Spain between 2004 and 2008 were analyzed. Five BMI z score trajectories from birth to age 4 years were identified by using latent class growth analysis. Multinomial regression assessed the associations between maternal metabolic parameters and offspring's BMI trajectories. Results Children in the reference BMI trajectory had average size at birth followed by a slower BMI gain. Maternal prepregnancy obesity was associated with trajectories of accelerated BMI gain departing from either hi…
PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
2013
International audience; Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an unknown genetic cause and hallmarks that include insulin resistance and lack of subcutaneous fat. We ascertained two unrelated individuals with SHORT syndrome, hypothesized that the observed phenotype was most likely due to de novo mutations in the same gene, and performed whole-exome sequencing in the two probands and their unaffected parents. We then confirmed our initial observations in four other subjects with SHORT syndrome from three families, as well as 14 unrelated subjects presenting wi…
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
2013
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated using autozygosity mapping and whole-exome sequencing. The proband presented with obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. The mutation was also found in two of the proband's siblings with retinal dystrophy and resulted in mislocalization of the truncated protein. In contrast to known forms of retinal dystrophy, including those caused by mutations in the tubby-like protein …
Incretin-Based Therapies Role in COVID-19 Era: Evolving Insights
2020
The current coronavirus disease 2019 (COVID-19) pandemic has led the scientific community to breach new frontiers in the understanding of human physiology and disease pathogenesis. It has been hypothesized that the human dipeptidyl peptidase 4 (DPP4) enzyme receptor may be a functional target for the spike proteins of severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2). Since DPP4-inhibitors are currently used for the treatment of patients with type-2 diabetes (T2DM), there is currently high interest in the possibility that these agents, or incretin-based therapies (IBTs) in general, may be of benefit against the new coronavirus infection. Diabetes is associated with increased COV…
Alveolar gas exchange and tissue deoxygenation during exercise in type 1 diabetes patients and healthy controls.
2012
We used near-infrared spectroscopy to investigate whether leg and arm skeletal muscle and cerebral deoxygenation differ during incremental cycling exercise in men with type 1 diabetes (T1D, n=10, mean±SD age 33±7 years) and healthy control men (matched by age, anthrometry, and self-reported physical activity, CON, n=10, 32±7 years) to seek an explanation for lower aerobic capacity (˙VO2peak) often reported in T1D. T1D had lower ˙VO2peak (35±4mlkg(-1)min(-1) vs. 43±8mlkg(-1)min(-1), P0.01) and peak work rate (219±33W vs. 290±44W, P0.001) than CON. Leg muscle deoxygenation (↑ [deoxyhemoglobin]; ↓ tissue saturation index) was greater in T1D than CON at a given absolute submaximal work rate, bu…
The Association Between Bone Mineral Density and Airflow Limitation in a Cohort of Fit Elderly Women
2016
Purpose: As studies examining the association between bone mineral density (BMD) and airflow limitation (AL) have produced conflicting results, the current one set out to analyze if and to what degree there are any correlations between these variables in a population of fit elderly women. Methods: One hundred and twenty-one non-smoking, fit and healthy women (age ≥ 65 years) underwent anthropometric assessment, laboratory testing (serum 25-hydroxy vitamin D, parathormone, and cytokine levels), pulmonary function testing (PFT), and dual-energy X-ray absorptiometry to evaluate BMD values of the lumbar and femoral regions. Results: A significant positive association was found between FEV1/FVC …
Low physical activity and its association with diabetes and other cardiovascular risk factors: a nationwide, population-based study
2016
Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM; ISCIII Ministerio de Ciencia e Innovacion); Ministerio de Sanidad y Consumo; Spanish Diabetes Society (SED)
BMI-BFMNU: A structural index linked to fat mass
2021
Abstract Introduction: Body mass index (BMI) provides little information on body composition. For example, two people with the same BMI might have different body compositions. In this sense, the development of a new BMI able to provide body composition information is of clinical and scientific interest. The aim of the study was to suggest a new modified BMI formula. Material and Methods: A total of 108 subject, females 56 and males 52, 0-73 years old, in various physiopathological conditions were evaluated. Data were collected and processed by a program that through anthropometric measurements calculates classic BMI, volume, surface, V/S (that we can defined like a body-thickness “pse…