Publications by authors named "E F Gevers"
Aims/hypothesis: The diagnosis of type 2 diabetes is increasing in young people worldwide. This study evaluated the frequency and clinical characteristics of young people presenting with type 2 diabetes from the multinational SWEET e.V Registry 2012-2021, including the first years of the COVID-19 pandemic.
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- Recent studies found genetic variants in 1% of patients without pseudohypoparathyroidism, highlighting a new missense variant, c.791A > C, p.(Asp264Thr), linked to obesity and hyperphagia in a family.
- A 6-year-old girl and her 12-year-old brother both exhibited obesity, hyperphagia, and developmental delays, alongside physical traits like brachydactyly and macrocephaly.
- Functional tests revealed that the mutant GNAS gene resulted in reduced cAMP production when stimulated, indicating potential new genetic links to obesity, and suggesting testing for PHP1A in children may be necessary even when traditional symptoms are absent.
Prader-Willi syndrome (PWS) is a rare orphan disease and complex genetic neurodevelopmental disorder, with a birth incidence of approximately 1 in 10,000-30,000. Management of people with PWS requires a multi-disciplinary approach, ideally through a multi-disciplinary team (MDT) clinic with community support. Hypotonia, poor feeding and faltering growth are characteristic features in the neonatal period, followed by hyperphagia and risk of rapid weight gain later in childhood.
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- Prader-Willi syndrome (PWS) is a rare genetic disorder linked to the absence of certain genes on chromosome 15, leading to symptoms like low muscle tone, cognitive issues, and a constant urge to eat, which can cause severe obesity if not managed.
- The study assessed the long-term effectiveness of Diazoxide choline extended-release (DCCR) tablets on managing hyperphagia and other behavioral issues in PWS patients through comparisons between a treatment cohort and a natural history study cohort.
- Results showed that those treated with DCCR exhibited significant reductions in hyperphagia scores and improvements in behavioral assessments over 26 and 52 weeks, with findings remaining consistent even under worst-case data scenarios. *
Introduction: Quantifying differences in service provision for children and young people (CYP) living with Congenital Adrenal Hyperplasia (CAH) across the United Kingdom.
Methods: A national service evaluation using online questionnaires circulated to patients and clinicians from secondary and tertiary UK centres managing CYP with CAH, and via the "Living with CAH" support group mailing list.
Results: Total of 195 responses relating to patients aged 0-20 years attending 33 clinics (43 patients, 152 carers), as well as 34 clinicians from 18 trusts working across the 33 clinics.