Results 1 to 10 of about 15,656 (183)

French database of children and adolescents with Prader-Willi syndrome [PDF]

BMC Medical Genetics, 2008
Background Prader-Willi syndrome (PWS) is a rare multisystem genetic disease leading to severe complications mainly related to obesity. We strongly lack information on the natural history of this complex disease and on what factors are involved in its ...
Arnaud Catherine, Glattard Melanie, Diene Gwenaelle, Cazals Laurent, Molinas Catherine, Tauber Maithe   +5 more
doaj   +2 more sources

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center

Orphanet Journal of Rare Diseases, 2019
Background In the last 20 years, substantial improvements have been made in the diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data on causes of death are available since those improvements were made.
Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud, Maithé Tauber   +11 more
doaj   +1 more source

Height loss with age in adults with Prader-Willi syndrome may result in artifactual increases in BMI

Scientific Reports
Modest decreases in height occur during normal aging, but usually have only a minimal effect on BMI (body mass index). Height loss may result from vertebral fractures, disc collapse, kyphosis, and/or scoliosis.
Harry J. Hirsch, Harel Arzi, Fortu Benarroch, Varda Gross-Tsur   +3 more
doaj   +1 more source

Hyperphagia and impulsivity: use of self-administered Dykens’ and in-house impulsivity questionnaires to characterize eating behaviors in children with severe and early-onset obesity

Orphanet Journal of Rare Diseases
Background The determinants of early-onset obesity ( International Obesity Task Force [IOTF] 30) of different etiologies (hypothalamic obesity [HO], intellectual disability with obesity [IDO], common polygenic obesity [CO]) were prospectively included ...
Lara Arnouk, Hélène Chantereau, Sophie Courbage, Patrick Tounian, Karine Clément, Christine Poitou, Béatrice Dubern   +6 more
doaj   +1 more source

Circulating Irisin in Children and Adolescents With Prader-Willi Syndrome: Relation With Glucose Metabolism

Frontiers in Endocrinology, 2022
Irisin is a myokine involved in the browning of white adipose tissue and regulation of energy expenditure, glucose homeostasis and insulin sensitivity. Debated evidence exists on the metabolic role played by irisin in children with overweight or obesity,
Stefania Mai, Danilo Fintini, Chiara Mele, Alessio Convertino, Sarah Bocchini, Graziano Grugni, Gianluca Aimaretti, Roberta Vietti, Massimo Scacchi, Massimo Scacchi, Antonino Crinò, Paolo Marzullo, Paolo Marzullo   +12 more
doaj   +1 more source

Current Treatments for Patients with Genetic Obesity

JCRPE, 2023
Obesity derives from impaired central control of body weight, implying interaction between environment and an individual genetic predisposition. Genetic obesities, including monogenic and syndromic obesities, are rare and complex neuro-endocrine ...
Nathan Faccioli, Christine Poitou, Karine Clément, Béatrice Dubern   +3 more
doaj   +1 more source

Early oxytocin treatment in infants with Prader–Willi syndrome is safe and is associated with better endocrine, metabolic and behavioral outcomes

Orphanet Journal of Rare Diseases
Background Oxytocin (OT) plays an important role in modulating behavior, social interactions and feeding. Prader–Willi syndrome (PWS), a rare genetic neurodevelopmental disorder, is a model of hypothalamic disorder including OT dysfunction. We previously
Marion Valette, Gwenaelle Diene, Mélanie Glattard, Julie Cortadellas, Catherine Molinas, Sandy Faye, Grégoire Benvegnu, Kader Boulanouar, Pierre Payoux, Jean-Pierre Salles, Catherine Arnaud, Sophie Çabal, Maithé Tauber   +12 more
doaj   +1 more source

Lennox-gastaut syndrome in a pediatric patient with prader-willi syndrome: A case report and review

Brain Disorders
Prader-Willi Syndrome is typically caused by paternal deletion of chromosome 15q11-q13. It involves multiple systems and is commonly associated with hypotonia, global developmental delay, and endocrine abnormalities. Seizures are less frequently reported
Raidah Albaradie, Sharook Alhawaj, Wojod Alothman, Shahid Bashir   +3 more
doaj   +1 more source

Malignant otitis externa in a 21-year-old male patient with Prader–Willi syndrome

SAGE Open Medical Case Reports, 2019
Malignant otitis externa is an invasive infection of the external auditory canal and temporal bone with potentially life-threatening complications. Elderly patients with type 2 diabetes mellitus are the population most commonly affected by malignant ...
Marcos Frata Rihl, Felipe Marchiori Bau, Igor de Oliveira, Manoela Astolfi Vivan, Roseane Cardoso Marchiori   +4 more
doaj   +1 more source

The effects of Bifidobacterium animalis ssp. lactis B94 on gastrointestinal wellness in adults with Prader–Willi syndrome: study protocol for a randomized controlled trial

Trials, 2018
Background Constipation is a frequent problem in adults with Prader–Willi syndrome. Certain probiotics have been shown to improve transit and gastrointestinal symptoms of adults with functional constipation.
Zainab Alyousif, Jennifer L. Miller, Mariana Y. Sandoval, Chad W. MacPherson, Varuni Nagulesapillai, Wendy J. Dahl   +5 more
doaj   +1 more source