Výsledky vyhledávání - "Sarah Aylett"

North Thames multi-centre service evaluation: Ethical considerations during COVID-19

Autor: Pippa Sipanoun, Mariana Dittborn, Mary Doyle, Sarah Aylett, Namithaa Sunil Kumar

Publikováno v: Clinical Ethics. 18:215-223

Objectives During the COVID-19 pandemic, healthcare resources including staff were diverted from paediatric services to support COVID-positive adult patients. Hospital visiting restrictions and reductions in face-to-face paediatric care were also enf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::def64bdf98a84ab36a7a7b7aec581e4d
https://doi.org/10.1177/14777509211063590

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Transient episodes of hemiparesis in Sturge Weber Syndrome – Causes, incidence and recovery

Autor: Ricarda P. Tillmann, Karen Ray, Sarah Aylett

Publikováno v: Eur J Paediatr Neurol

Introduction Sturge Weber Syndrome (SWS) arises from a sporadic condition secondary to a post zygotic mutation in the GNAQ gene, manifested in the majority of cases by capillary malformation of the skin. Children present with seizures, acquired hemip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97393b0983fbcbf9a310495b55d263e6
https://doi.org/10.1016/j.ejpn.2019.11.001

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47 Ethical review of the impact of changes to healthcare services on children and young people during the first wave of the coronavirus disease 2019 (COVID-19) pandemic

Autor: Namithaa Sunil Kumar, Pippa Sipanoun, Mariana Dittborn, Mary Doyle, Sarah Aylett

Publikováno v: Digital posters.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::518732ae5c325548d217b5830d86dcbf
https://doi.org/10.1136/archdischild-2021-gosh.47

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65 A literature review looking at the barriers to accessing child and adolescent mental health services (CAMHS); a professionals perspective

Autor: Eunice Shing, Ruth Garcia-Rodriguez, Pooja Ramani, Elaine Clark, Sarah Aylett

Publikováno v: Digital posters.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6dcebf092e37efa72f8b563fb74c2c9e
https://doi.org/10.1136/archdischild-2021-gosh.65

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Abstract 851: Functional dissection of GNAQ and GNA11 oncogenic mutations identifies potential targeted therapy

Autor: Davide Zecchin, Nicole Knoepfel, Anna Gluck, Mark Stevenson, Kate E. Lines, Satyamaanasa Polubothu, Noreen Muwanga-Nanyonjo, Sara Barberan-Martin, Fanourios Michailidis, Dale Bryant, Ulrike Loebel, Asuka Inoue, Robert Semple, Sarah Aylett, Rajesh V. Thakker, Veronica A. Kinsler

Publikováno v: Cancer Research. 82:851-851

Background: Oncogenic variants of GNAQ and GNA11 arising in embryonic or fetal development lead to a spectrum of congenital mosaic disorders including Sturge-Weber syndrome (SWS) and Phakomatosis Pigmentovascularis (PPV). Both SWS and PPV are charact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::00a722de1cccdc6613582071d73d1cbf
https://doi.org/10.1158/1538-7445.am2022-851

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The prevalence and profile of autism in Sturge-Weber syndrome

Autor: Jenny, Sloneem, Jo, Moss, Sebastian, Powell, Christina, Hawkins, Tang, Fosi, Hanna, Richardson, Sarah, Aylett

Publikováno v: Journal of autism and developmental disorders. 52(5)

A systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social Responsiveness Scale questionnaires were then analysed to explore the severity and profile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e162817a9fca1bc56af76ad282e3a4c8
https://pubmed.ncbi.nlm.nih.gov/34043129

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Neurological presentations and cognitive outcome in Sturge-Weber syndrome

Autor: Tangunu Fosi, Sebastian Powell, Christina Hawkins, Hanna Richardson, Jenny Sloneem, Sarah Aylett

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 34

This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and determined risk factors for intellectual and language impairments.A retrospective case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e9d728e80fb1f2dc4c6b572797df900
https://pubmed.ncbi.nlm.nih.gov/34293629

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Headache in children with Sturge-Weber syndrome - Prevalence, associations and impact

Autor: P. Prabhakar, Rod C. Scott, Sarah Aylett, L. Arkush

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 27

Background Sturge-Weber syndrome (SWS) is a congenital neurovascular disorder characterised by capillary-venous malformations involving the skin, brain and eye. Patients experience headache, however little is known about its characteristics or associ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcee45f334b243dc9ac7dcf6050c24de
https://pubmed.ncbi.nlm.nih.gov/32561288

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