Search Results - "Harper, Natasha"
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SG15 A topical matter: iatrogenic adrenal crisis following excessive prescription corticosteroid use
Published in British journal of dermatology (1951) (28-06-2024)“…A 39-year-old man with intermediate junctional epidermolysis bullosa (EB) was admitted with a 2-week history of nausea, vomiting, diarrhoea, weakness, loss of…”
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SG14 Foot care management in epidermolysis bullosa: a systematic review and thematic synthesis of qualitative literature
Published in British journal of dermatology (1951) (28-06-2024)“…Epidermolysis bullosa (EB) describes a rare, prototypic group of inherited dermatoses exhibiting ultrastructural defects in the dermoepidermal junction. This…”
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BG06 Beyond keratin: when simplex is not so simple
Published in British journal of dermatology (1951) (26-06-2023)“…Epidermolysis bullosa simplex (EBS) is a heterogeneous, congenital, mucocutaneous fragility syndrome, characterized ultrastructurally by cleavage within the…”
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BG05 Artificial intelligence prediction of splice site mutation consequences in junctional epidermolysis bullosa: signposts to severity
Published in British journal of dermatology (1951) (26-06-2023)“…Over one-fifth of disease-causing mutations in junctional epidermolysis bullosa (JEB) are splice site variants. These affect pre-mRNA splicing through the…”
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The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database
Published in British journal of dermatology (1951) (01-05-2022)“…Summary Background The National Health Service (NHS) epidermolysis bullosa (EB) service, established in 2002, offers comprehensive, free care to all patients…”
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Epidermolysis bullosa
Published in Nature reviews. Disease primers (24-09-2020)“…Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation,…”
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Are existing validated severity scores for epidermolysis bullosa reflective of the burden of disease in patients with epidermolysis bullosa simplex?
Published in Clinical and experimental dermatology (05-06-2023)“…Our study demonstrates that severity scores do not correlate well with the impact that localized epidermolysis bullosa simplex (EBS) has on quality of life…”
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IgA nephropathy in adults with epidermolysis bullosa
Published in Clinical and experimental dermatology (21-07-2023)“…Epidermolysis bullosa (EB) is a devastating genetic condition caused by mutations in genes that give rise to aberrant proteins. There are 16 different such…”
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The root cause of a blistering eruption
Published in Archives of disease in childhood (01-01-2015)“…On examination, there was background erythema with bullae on the dorsal aspect of the fingers, much worse on her dominant hand ( figure 1 )…”
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Successful use of rituximab, an anti‐CD20 monoclonal antibody, to treat IgA nephropathy in a patient with recessive dystrophic epidermolysis bullosa
Published in Clinical and experimental dermatology (01-08-2022)“…We describe the successful use of rituximab for the treatment of IgA nephropathy in a patient with recessive dystrophic epidermolysis bullosa. To our…”
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Extended Scalp Flaps for Extensive Soft Tissue Scalp Defects as a Day Surgery Procedure Under Local Anesthetic: A Single Centre Experience
Published in Journal of neurological surgery. Part B, Skull base (01-12-2021)“…Abstract Background Cutaneous malignancies are on the rise, associated with an increased number in scalp cancers that require wide local excision (WLE) to…”
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A CASE OF MISTAKEN IDENTITY: ‘MASK PHENOMENON’ FOLLOWING A GENERALISED TONIC–CLONIC SEIZURE (GTCS)
Published in Journal of neurology, neurosurgery and psychiatry (01-11-2013)“…A 20–year old student presented following a witnessed GTCS. In the preceding 2 years he had suffered 2 possible seizures and had a history of childhood…”
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Molecular mechanism of α-synuclein aggregation on lipid membranes revealed
Published in Chemical science (Cambridge) (15-05-2024)“…The central hallmark of Parkinson's disease pathology is the aggregation of the α-synuclein protein, which, in its healthy form, is associated with lipid…”
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Cost-effectiveness in Psychodermatology: A Case Series
Published in Acta dermato-venereologica (08-05-2017)Get full text
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