Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
A patient with Prader-Willi syndrome (PWS), extreme obesity and hyperglycemia had her body weight increased considerably for 6 months, even with exercise and diet programs. Treatment with metformin and empagliflozin (12.5 mg/day) induced a weight loss of 14 kg (-10.3%) for 6 months and the reduction of glycated hemoglobin A.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9042659 | PMC |
| http://dx.doi.org/10.1007/s13410-022-01076-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Development of disease-specific growth charts for Argentine Prader-Willi syndrome without growth hormone treatment.
Ann Hum Biol
December 2025
Growth and Development Department, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
Background: Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by infantile hypotonia, early-onset obesity, intellectual disability, hypopigmentation, small hands and feet, short stature, hypogonadism, and distinctive facial features.
Aim: To generate and report growth curves for height, sitting height, hands and feet length for Argentine children with Prader-Willi syndrome (PWS) without growth hormone treatment.
Subjects And Methods: A total of 1174 anthropometric measures were obtained from 167 children (82 boys) aged 0-19 years attending Hospital Garrahan between 1992 and 2019.
Real-World Efficacy and Safety of Setmelanotide in Adults With Monogenic or Syndromic Obesity: A Prospective Cohort Study.
Obesity (Silver Spring)
September 2025
Assistance Publique Hôpitaux de Paris, Service de Nutrition, Centre Référent PRADORT "Syndrome de Prader-Willi et Autres Obésités Rares Avec Troubles du Comportement Alimentaire," Hôpital Pitié-Salpêtrière, Paris, France.
Objective: The melanocortin-4 receptor agonist setmelanotide has demonstrated effectiveness in phase 3 clinical trials for patients with monogenic obesity caused by biallelic variants in the leptin receptor (LEPR) and pro-opiomelanocortin (POMC), as well as for individuals with Bardet-Biedl syndrome (BBS). However, real-world evidence remains limited. This study evaluates the long-term effectiveness and safety of setmelanotide in patients who received treatment under a pre-marketing early-access authorization.
View Article and Find Full Text PDFMaternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome.
Mol Cytogenet
August 2025
Assisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, Zhejiang, China.
Background: Prader-Willi Syndrome (PWS) is a complicated genetic disorder demonstrating a variety of clinical phenotypes. Using molecular cytogenetics approaches to detect the deletions of the paternal 15q11-q13 region and maternal uniparental disomy of chromosome 15 plays an important role in the prenatal diagnosis of PWS.
Case Presentation: A pregnant woman with advanced maternal age underwent amniocentesis.
Psychometric evaluation of novel hyperphagia questionnaires in a real-world setting for patients with a rare MC4R pathway disease.
Orphanet J Rare Dis
August 2025
Division of Pediatric Endocrinology, University of Alberta, Edmonton, AB, Canada.
Background: There are no validated measures to assess hyperphagia associated with rare MC4R pathway diseases, such as Bardet-Biedl Syndrome (BBS). Symptoms of Hyperphagia© (SoH) and Impacts of Hyperphagia© (IoH) are novel questionnaires designed to assess signs and symptoms of hyperphagia and their impacts on patients and caregivers. We evaluated the psychometric performance of the caregiver-versions of the SoH: Caregiver (Observer-reported) and IoH: Caregiver (Observer-reported and Self-reported subscales).
View Article and Find Full Text PDFEarly-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.
Cureus
August 2025
Medicine, Pontificia Universidad Católica Madre y Maestra, Santiago de los Caballeros, DOM.
The 15q11.2 microdeletion syndrome, also known as Burnside-Butler syndrome (BBS), is a rare genetic disorder involving a deletion in the breakpoint 1 to breakpoint 2 (BP1-BP2) on the long arm of chromosome 15, often associated with growth retardation and delayed speech development. In contrast, rare manifestations consist of dysmorphic traits, seizures, and neurodevelopmental or psychiatric conditions such as epilepsy, autism spectrum disorder (ASD), and schizophrenia.
View Article and Find Full Text PDF