Results 31 to 40 of about 15,656 (183)

A study of voice and non-voice processing in Prader-Willi syndrome

open access: yesOrphanet Journal of Rare Diseases, 2020
Background Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin. It manifests itself in endocrine and cognitive problems, including highly pronounced hyperphagia and severe obesity.
Kuzma Strenilkov   +9 more
doaj   +1 more source

A 14-year-old male patient with diagnosis of Prader–Willi syndrome in Ethiopia: a case report

open access: yesJournal of Medical Case Reports, 2023
Background Prader–Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader–Willi syndrome-critical region on chromosome 15 (15q11.2-q13).
Kibret Enyew Belay   +4 more
doaj   +1 more source

Influence of Naltrexone/Bupropion Combination Treatment on Body Mass Index in Prader–Willi Syndrome Re: “Prader–Willi Syndrome, Management of Impulsivity, and Hyperphagia in an Adolescent” by Puri et al. (J Child Adolesc Psychopharmacol 26:403–404, 2016) [PDF]

open access: yes, 2016
We read with interest the case report by Puri et al. (2016) describing a 13-year-old girl with Prader–Willi syndrome (PWS) treated for 6 weeks with a naltrexone/bupropion combination (Contrave) to target impulsivity, inattention, physical aggression, and
Hor, Amanda, Purtell, Louise
core   +1 more source

Cognitive and behavioral heterogeneity in genetic syndromes

open access: yesJornal de Pediatria, 2014
Objective: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds.
Luiz F.L. Pegoraro   +4 more
doaj   +5 more sources

Special Issue: Genetics of Prader–Willi Syndrome [PDF]

open access: yes, 2021
This Special Issue includes 15 peer-reviewed articles for publication by experts in Prader–Willi syndrome (PWS) and their reflective area of interest impacting this rare disorder [...
David E. Godler, Merlin G. Butler
core   +3 more sources

Sedation in a Patient with Prader-Willi Syndrome: A Case Report [PDF]

open access: yes, 2014
Prader-Willi syndrome (PWS) is a rare disorder characterized by hypotonia, growth retardation, characteristic face shape, hypogonadism, hyperphagia and related morbid obesity.
Mehmet Toptaş   +3 more
core   +1 more source

Impact of transitional care on endocrine and anthropometric parameters in Prader–Willi syndrome

open access: yesEndocrine Connections, 2018
Context: The transition of patients with Prader–Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity and cognitive and behavioral disabilities. Objective: To assess
A C Paepegaey   +9 more
doaj   +1 more source

Prader-Willi Syndrome [PDF]

open access: yes, 1991
The clinical and polysomnographic features of 5 patients with Prader-Willi syndrome were studied at the Mayo Clinic, Jacksonville ...
J Gordon Millichap
core   +1 more source

Baroreflex Dysfunction in Prader Willi Syndrome [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2016
Prader-Willi syndrome is a classical hypothalamic insufficiency disorder. This syndrome is often associated with cardiovascular morbidity and mortality - which could probably be attributed to autonomic dysfunction.
Manpreet Kaur   +3 more
doaj   +1 more source

Dental Management of Prader-Willi Syndrome in a 7-year-old Girl: A Rare Case Report [PDF]

open access: yesJournal of South Asian Association of Pediatric Dentistry, 2022
Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by a lack of expression of paternal genes located on chromosome 15q11-q13. Prader-Willi syndrome is characterized by hypothalamic dysfunction.
Mallayya C Hiremath   +4 more
doaj   +1 more source

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