Results 181 to 190 of about 24,669 (243)

Fiber Intervention Study in Prader-Willi Syndrome: Insights into Metabolic and Microbiota Shifts.

J Clin Endocrinol Metab
Tan Q, Peng Y, Deehan EC, Vieira FT, Ho BWP, Afhami S, Wine E, Madsen KL, Field CJ, Pakseresht M, Ilkayeva O, Newgard CB, Walter J, Tun HM, Haqq AM.   +14 more
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Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction.

The Lancet Diabetes and Endocrinology, 2021
Prader-Willi syndrome is a rare genetic neurodevelopmental disorder resulting from the loss of expression of maternally imprinted genes located in the paternal chromosomal region, 15q11-13.
M. Tauber, C. Høybye
semanticscholar   +1 more source

PRADER-WILLI SYNDROME

The Lancet, 1968
IN 1956 Prader et al1first reported nine cases of a new syndrome. The symptom complex evolves to its full expression over a number of years. The prenatal course is usually uneventful, except for decreased fetal activity. Infants are born at term with a low birth weight.
J, Landwirth, A H, Schwartz, J A, Grunt
openaire   +4 more sources

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.

European Journal of Medical Genetics, 2022
The CpG island flanking the promoter region of SNRPN on chromosome 15q11.2 contains CpG sites that are completely methylated in the maternally derived allele and unmethylated in the paternally derived allele.
Mamiko Yamada, Hironobu Okuno, N. Okamoto, Hisato Suzuki, F. Miya, T. Takenouchi, K. Kosaki   +6 more
semanticscholar   +1 more source

PRADER‐WILLI SYNDROME

Journal of Intellectual Disability Research, 1967
รปแสดง การเกด Deletion ของต าแหนง 15q11-13 โครโมโซมทก าหนดวาเปน P เปนโครโมโซมทไดมา จากพอ (paternal) และโครโมโซมทก าหนดวาเปน M คอโครโมโซมแทงทไดมาจากแม (maternal) จะเหนไดวา หากมการขาดหายไปของบรเวณ 15q11-13 ของโครโมโซมแทงทไดมาจากพอ จะท าใหเกด โรค Prader-Willi Syndrome แตหากเปนโครโมโซมแทงทไดมาจากแม จะท าใหเกด โรค Angelman Syndrome แสดงวาบรเวณ 15q11-13 ...
J, Juul, A, Dupont
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Critical review of bariatric surgical outcomes in patients with Prader‐Willi syndrome and other hyperphagic disorders

Obesity, 2022
The aim of this study was to review bariatric procedure outcomes among patients with Prader‐Willi syndrome (PWS), melanocortin 4 receptor (MC4R) mutations, Bardet‐Biedl syndrome, and hypothalamic obesity.
M. Gantz, D. J. Driscoll, Jennifer L Miller, J. Duis, M. Butler, L. Gourash, J. Forster, A. Scheimann   +7 more
semanticscholar   +1 more source

The effects of glucagon‐like peptide (GLP)‐1 receptor agonists on weight and glycaemic control in Prader–Willi syndrome: A systematic review

Clinical Endocrinology, 2021
The mainstay management of hyperphagia and obesity in Prader–Willi syndrome (PWS) relies on dietary restrictions, strict supervision and behavioural modifications, which can be stressful for the patient and caregiver.
Nicholas Beng Hui Ng, Yue Wey Low, D. Rajgor, J. Low, Y. Lim, K. Loke, Y. Lee   +6 more
semanticscholar   +1 more source

Prader-Willi syndrome: consensus diagnostic criteria.

Pediatrics, 1993
The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and ...
V. A. Holm, S. Cassidy, M. Butler, J. M. Hanchett, L. R. Greenswag, B. Whitman, F. Greenberg   +6 more
semanticscholar   +1 more source

The Prader-Willi Syndrome

Archives of Pediatrics & Adolescent Medicine, 1969
IN 1956, Prader et al1described a syndrome characterized by mental retardation, muscular hypotonia, obesity, short stature, and hypogonadism. In 1961, Prader and Willi2noted a marked tendency to develop diabetes mellitus. Forssman and Hagberg3observed that acromicria was such a constant feature that it should be considered characteristic of the ...
M M, Cohen, R J, Gorlin
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Sleep in the Prader-Willi Syndrome

Archives of Neurology, 1985
To the Editor. —Dr Vela-Bueno and colleagues 1 suggest that their finding of sleep-onset rapid-eye movement periods (SOREMPs) in the nocturnal sleep in five of nine patients with Prader-Willi syndrome (PWS) was due to hypothalamic dysfunction. They failed to mention that a shortened REM sleep latency could result from chronic REM sleep deprivation due
A J, Spielman, M J, Thorpy, A, Sher
openaire   +2 more sources