Epitranscriptomics is considered as a new regulatory step in eukaryotes for developmental processes and stress responses. The aim of this study was, for the first time, to identify RNA methyltransferase (writers) and demethylase (erasers) in four investigated species, i.e.
View Article and Find Full Text PDFBackground: Rare genetic obesity commonly features early-onset obesity, hyperphagia, and therapy-resistance to lifestyle interventions. Pharmacotherapy is often required to treat hyperphagia and induce weight loss. We describe clinical outcomes of glucagon-like peptide-1 analogue liraglutide or naltrexone-bupropion treatment in adults with molecularly confirmed genetic obesity (MCGO) or highly suspected for genetic obesity without definite diagnosis (HSGO).
View Article and Find Full Text PDFObjective: Considering limited evidence on diagnostics of genetic obesity in adults, we evaluated phenotypes of adults with genetic obesity. Additionally, we assessed the applicability of Endocrine Society (ES) recommendations for genetic testing in pediatric obesity.
Methods: We compared clinical features, including age of onset of obesity and appetite, between adults with non-syndromic monogenic obesity (MO), adults with syndromic obesity (SO), and adults with common obesity (CO) as control patients.
Context: The melanocortin-4 receptor (MC4R) plays an important role in body weight regulation. Pathogenic MC4R variants are the most common cause of monogenic obesity.
Objective: We have identified 17 MC4R variants in adult and pediatric patients with obesity.
Leptin receptor (LEPR) deficiency is a rare genetic disorder that affects the body's ability to regulate appetite and weight. For patients and their families, the disorder seriously disrupts daily life; however, little is published about this impact. We here report the experiences of a 10.
View Article and Find Full Text PDFWe describe the therapeutic journey of a 33-year-old patient with early-onset obesity (BMI 56.7 kg/m) and hyperphagia due to a likely pathogenic heterozygous () gene variant. She was unsuccessfully treated with several intensive lifestyle interventions, gastric bypass surgery (-40 kg weight loss, followed by +39.
View Article and Find Full Text PDFBackground: Pediatric obesity is a multifactorial disease which can be caused by underlying medical disorders arising from disruptions in the hypothalamic leptin-melanocortin pathway, which regulates satiety and energy expenditure.
Aim: To investigate and compare resting energy expenditure (REE) and body composition characteristics of children and adolescents with severe obesity with or without underlying medical causes.
Methods: This prospective observational study included pediatric patients who underwent an extensive diagnostic workup in our academic centre that evaluated endocrine, non-syndromic and syndromic genetic, hypothalamic, and medication-induced causes of obesity.
Front Endocrinol (Lausanne)
April 2022
Introduction: Hypothalamic obesity (HO) in children has severe health consequences. Lifestyle interventions are mostly insufficient and currently no drug treatment is approved for children with HO. Amphetamines are known for their stimulant side-effect on resting energy expenditure (REE) and suppressing of appetite.
View Article and Find Full Text PDFIntroduction: COVID-19 lockdown measures have large impact on lifestyle behaviors and well-being of children. The aim of this mixed-methods study was to investigate the impact of COVID-19 lockdown measures on eating styles and behaviors, physical activity (PA), screen time, and health-related quality of life (HRQoL) in children (0-18 years) with severe obesity.
Methods: During the first COVID-19 wave (April 2020), validated questionnaires were completed and semi-structured telephone interviews were conducted with parents of children with severe obesity (adult body mass index [BMI]-equivalent ≥35 kg/m2) and/or with the children themselves.
Obesity is highly prevalent and comes with serious health burden. In a minority, a genetic cause is present which often results in therapy-resistant obesity. Liraglutide is a glucagon-like peptide-1 (GLP-1) analogue, which has beneficial effects on satiety and weight in common obesity.
View Article and Find Full Text PDFObesity is a complex endocrine disease, mainly caused by environmental, behavioral and biological factors. Maintaining weight loss is extremely difficult due to the neuro-endocrine dysregulations that stimulate the body to return to the previous, increased, weight. Identifying underlying weight-gaining factors is needed, including medication-related, psychological and endocrine factors, as well as monogenic obesity.
View Article and Find Full Text PDFBackground: There is a need for non-invasive prenatal markers of the brain to assess fetuses at risk for poor postnatal neurodevelopmental outcome. Periconceptional maternal conditions and pregnancy complications impact prenatal brain development.
Aims: To investigate associations between growth trajectories of fetal brain structures and neurodevelopmental outcome in children in the early life course.
Recent studies report negative mental health effects of the COVID-19 related lockdown measures in general paediatric cohorts. Since obesity is a risk factor for COVID-19 in adults, children (including adolescents) with obesity might perceive themselves to be vulnerable. Using a combined quantitative and qualitative approach, we explored COVID-19 related anxiety in paediatric patients with severe obesity in the Netherlands using semi-structured telephone interviews and the Paediatric Quality of Life Inventory (PedsQL) questionnaire, which had also been completed by the study population at baseline in the year prior to the COVID-19 outbreak.
View Article and Find Full Text PDFThe ambient cistern is an arachnoid complex that extends from the crural cistern to lateral border of cerebral colliculi. The subtemporal approach has been recognized as the best access to reach pathologies in the ambient cistern, however many disadvantages exist. The present work aims to analyze quantitatively the area of exposure provided by the subtemporal access.
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