Derby Hospitals Foundation NHS Trust

Derby, United Kingdom

Derby Hospitals Foundation NHS Trust

Derby, United Kingdom

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Atton G.,St Georges Healthcare NHS Trust | Gordon K.,St Georges Hospital Nhs Trust | Brice G.,St Georges Healthcare NHS Trust | Brice G.,St Georges Hospital Nhs Trust | And 5 more authors.
European Journal of Human Genetics | Year: 2015

Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000-1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function. © 2015 Macmillan Publishers Limited.


PubMed | St George's, University of London, St Georges Hospital Nhs Trust, St Georges Healthcare NHS Trust and Derby Hospitals Foundation NHS Trust
Type: Case Reports | Journal: European journal of human genetics : EJHG | Year: 2015

Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000-1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.


PubMed | Derby Hospitals Foundation NHS Trust
Type: Journal Article | Journal: Nursing older people | Year: 2016

The new framework provides two opportunities to identify client need: a short screening tool referred to as a checklist; and the longer Decision Support Tool which summarises the current client position, drawing in the opinions of the team that engaged with the client, and input from their relative or carer(s). Where clients have a rapidly deteriorating condition, a fast track tool is available as a prompt summary of need.

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