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Prader-Willi syndrome.
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Cassidy SB, et al. Genet Med. 2012 Jan;14(1):10-26. doi: 10.1038/gim.0b013e31822bead0. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237428 Free article. Review.
Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmenta …
Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causin …
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL. Butler MG, et al. Curr Pediatr Rev. 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. Curr Pediatr Rev. 2019. PMID: 31333129 Free PMC article. Review.
An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. Key findings include infantile hypotonia, a poor suck, failure to thrive and hypogonadism/hypogenitalism. Short stature and small hands/feet due to growth and other h …
An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. Key findings include infantile hypotonia …
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.
Angulo MA, Butler MG, Cataletto ME. Angulo MA, et al. J Endocrinol Invest. 2015 Dec;38(12):1249-63. doi: 10.1007/s40618-015-0312-9. Epub 2015 Jun 11. J Endocrinol Invest. 2015. PMID: 26062517 Free PMC article. Review.
Clinical manifestations change with age with hypotonia and a poor suck resulting in failure to thrive during infancy. As the individual ages, other features such as short stature, food seeking with excessive weight gain, developmental delay, cognitive disability and …
Clinical manifestations change with age with hypotonia and a poor suck resulting in failure to thrive during infancy. As the i …
Obesity in Prader-Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches.
Muscogiuri G, Barrea L, Faggiano F, Maiorino MI, Parrillo M, Pugliese G, Ruggeri RM, Scarano E, Savastano S, Colao A; RESTARE. Muscogiuri G, et al. J Endocrinol Invest. 2021 Oct;44(10):2057-2070. doi: 10.1007/s40618-021-01574-9. Epub 2021 Apr 23. J Endocrinol Invest. 2021. PMID: 33891302 Free PMC article. Review.
The main clinical characteristics are represented by short stature, developmental delay, cognitive disability and behavioral diseases. Hypotonia and poor suck resulting in failure to thrive are typical of infancy. ...
The main clinical characteristics are represented by short stature, developmental delay, cognitive disability and behavioral diseases. Hypot …
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.
Yang-Li D, Fei-Hong L, Hui-Wen Z, Ming-Sheng M, Xiao-Ping L, Li L, Yi W, Qing Z, Yong-Hui J, Chao-Chun Z; PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society; Zhejiang Expert Group for PWS. Yang-Li D, et al. Orphanet J Rare Dis. 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. Orphanet J Rare Dis. 2022. PMID: 35698200 Free PMC article. Review.
The clinical manifestations of PWS vary with age. It is characterized by severe hypotonia with poor suck and feeding difficulties in the early infancy, followed by overeating in late infancy or early childhood and progressive development of morbid obesity unless the …
The clinical manifestations of PWS vary with age. It is characterized by severe hypotonia with poor suck and feeding difficult …
Autonomic nervous system dysfunction in Prader-Willi syndrome.
Butler MG, Victor AK, Reiter LT. Butler MG, et al. Clin Auton Res. 2023 Jun;33(3):281-286. doi: 10.1007/s10286-022-00909-7. Epub 2022 Dec 14. Clin Auton Res. 2023. PMID: 36515769 Review.
INTRODUCTION: Prader-Willi syndrome is a complex neurodevelopmental genetic disorder due to lack of paternal expression of critical imprinted genes in the 15q11.2-q13.1 chromosomal region, generally from a paternal deletion. Predominant features include infantile hypotonia, a …
INTRODUCTION: Prader-Willi syndrome is a complex neurodevelopmental genetic disorder due to lack of paternal expression of critical imprinte …
Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.
Butler MG, Manzardo AM, Forster JL. Butler MG, et al. Curr Pediatr Rev. 2016;12(2):136-66. doi: 10.2174/1573396312666151123115250. Curr Pediatr Rev. 2016. PMID: 26592417 Free PMC article. Review.
These include paternal 15q11-q13 deletion (about 70% of cases), maternal uniparental disomy 15 or both 15s from the mother (20-30% of cases), and defects in the imprinting center (1-3%) which controls the expression of imprinted genes in this chromosome region. Clinical manifesta …
These include paternal 15q11-q13 deletion (about 70% of cases), maternal uniparental disomy 15 or both 15s from the mother (20-30% of cases) …
Endoscopic percutaneous suture lateralization with syringe needles for neonatal bilateral vocal cord paralysis.
Zhao X, Yan S, Yang H, Li L, Pan H. Zhao X, et al. Am J Otolaryngol. 2022 May-Jun;43(3):103380. doi: 10.1016/j.amjoto.2022.103380. Epub 2022 Feb 2. Am J Otolaryngol. 2022. PMID: 35256206 Review.
RESULTS: Overall, 3/4 of the patients showed clinical improvement in stridor and dyspnea 2-3 weeks after the operation and avoided a tracheostomy, two of them could breathe and feed normally when they were discharged from hospital, and one patient had a weak ability to suck …
RESULTS: Overall, 3/4 of the patients showed clinical improvement in stridor and dyspnea 2-3 weeks after the operation and avoided a tracheo …
[Oxytocin administration during spontaneous labour: Guidelines for clinical practice. Guidelines short text].
Dupont C, Carayol M, Le Ray C, Barasinski C, Beranger R, Burguet A, Chantry A, Chiesa C, Coulm B, Evrard A, Fischer C, Gaucher L, Guillou C, Leroy F, Phan E, Rousseau A, Tessier V, Vendittelli F, Deneux-Tharaux C, Riethmuller D. Dupont C, et al. Gynecol Obstet Fertil Senol. 2017 Jan;45(1):56-61. doi: 10.1016/j.gofs.2016.12.017. Epub 2017 Jan 26. Gynecol Obstet Fertil Senol. 2017. PMID: 28238320 Review. French.
The reported maternal adverse effects concern uterine hyperstimulation, uterine rupture and post-partum haemorrhage, and those of neonatal adverse effects concern foetal heart rate anomalies associated with uterine hyperstimulation, neonatal morbidity and mortality, neonatal jaun …
The reported maternal adverse effects concern uterine hyperstimulation, uterine rupture and post-partum haemorrhage, and those of neonatal a …
Practice-based interpretation of ultrasound studies leads the way to more effective clinical support and less pharmaceutical and surgical intervention for breastfeeding infants.
Douglas P, Geddes D. Douglas P, et al. Midwifery. 2018 Mar;58:145-155. doi: 10.1016/j.midw.2017.12.007. Epub 2017 Dec 14. Midwifery. 2018. PMID: 29422195 Free article. Review.
Breast and nipple pain, difficulty with latching and sucking, fussing at the breast, back-arching, marathon feeds, excessively frequent feeds, poor weight gain, breast refusal, and crying due to poor satiety often signal suboptimal positional instability and impaire …
Breast and nipple pain, difficulty with latching and sucking, fussing at the breast, back-arching, marathon feeds, excessively frequent feed …
16 results