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Robert K Semple

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Articles 135
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Recent Articles
11.
McKay E, Luijten I, Weng X, Martinez de Morentin P, De Frutos Gonzalez E, Gao Z, et al.
bioRxiv . 2023 Oct; PMID: 37873427
Background: Alström Syndrome (AS), a multi-system disease caused by mutations in the gene, includes obesity with disproportionately severe insulin resistant diabetes, dyslipidemia, and hepatosteatosis. How loss of ALMS1 causes this...
12.
Grant B, Ratnayake G, Williams C, Long A, Halsall D, Semple R, et al.
Eur J Endocrinol . 2023 Oct; 189(6):K25-K29. PMID: 37818852
In very rare cases of monoclonal gammopathy, insulin-binding paraprotein can cause disabling hypoglycaemia. We report a 67-year-old man re-evaluated for hyperinsulinaemic hypoglycaemia that persisted despite distal pancreatectomy. He had no...
13.
Knopfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, et al.
J Invest Dermatol . 2023 Oct; 144(4):820-832.e9. PMID: 37802294
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding of localized "tramlining" on plain...
14.
Zecchin D, Knopfel N, Gluck A, Stevenson M, Sauvadet A, Polubothu S, et al.
J Invest Dermatol . 2023 Oct; 144(4):811-819.e4. PMID: 37802293
Mosaic variants in genes GNAQ or GNA11 lead to a spectrum of vascular and pigmentary diseases including Sturge-Weber syndrome, in which progressive postnatal neurological deterioration led us to seek biologically...
15.
Tobias D, Merino J, Ahmad A, Aiken C, Benham J, Bodhini D, et al.
Nat Med . 2023 Oct; 29(10):2438-2457. PMID: 37794253
Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical decisions and health recommendations. Diabetes affects hundreds...
16.
Semple R, Patel K, Auh S, Brown R
Commun Med (Lond) . 2023 Oct; 3(1):134. PMID: 37794082
Background: Monogenic insulin resistance (IR) includes lipodystrophy and disorders of insulin signalling. We sought to assess the effects of interventions in monogenic IR, stratified by genetic aetiology. Methods: Systematic review...
17.
Ebert T, Behre G, Weidhase L, Vucinic V, Gewert C, Semple R, et al.
Front Med (Lausanne) . 2023 Sep; 10:1200037. PMID: 37706022
Type B insulin resistance (TBIR) is a rare, often fulminant form of insulin resistance caused by autoantibodies against the insulin receptor. If left untreated, its mortality is high. Various immunosuppressive...
18.
Church D, Barker P, Burling K, Shinwari S, Kennedy C, Smith D, et al.
Diabet Med . 2023 Aug; 40(11):e15194. PMID: 37562398
Aims: Anti-insulin antibodies in insulin-treated diabetes can derange glycaemia, but are under-recognised. Detection of significant antibodies is complicated by antigenically distinct insulin analogues. We evaluated a pragmatic biochemical approach to...
19.
Suchacki K, Ramage L, Kwok T, Kelman A, McNeill B, Rodney S, et al.
Nat Metab . 2023 Aug; 5(8):1319-1336. PMID: 37537371
Activation of brown adipose tissue (BAT) in humans is a strategy to treat obesity and metabolic disease. Here we show that the serotonin transporter (SERT), encoded by SLC6A4, prevents serotonin-mediated...
20.
Semple R, Patel K, Auh S, Brown R
medRxiv . 2023 May; PMID: 37205502
Objective: To assess the effects of pharmacologic and/or surgical interventions in monogenic insulin resistance (IR), stratified by genetic aetiology. Design: Systematic review. Data Sources: PubMed, MEDLINE and Embase, from 1...