Clinical medicine (London, England)
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In January 2019, a new nationally commissioned Genomic Medicine Service (GMS) has now commenced in the NHS. Capitalising on the infrastructure developed through the 100,000 Genomes Project, the GMS is underpinned by seven supra-regional Genomic Laboratory Hubs (GLHs) delivering the new inherited rare disease and cancer somatic tissue genetic test directory. This replaces the UKGTN test directory, with the aim of standardising criteria for whole genome sequencing or targeted panel tests where applicable. ⋯ The aim is to simplify patient pathways and reduce regional or social inequalities. We will discuss the implications of whole genome sequencing and the potential impact of the new nationally commissioned GMS for both patients, their relatives and clinicians. We will also discuss the imminent challenges in implementing genomic medicine into the NHS, and the future impact of novel technologies on service delivery as genomic medicine becomes increasingly integrated into routine healthcare.
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A 38-year-old South Asian woman with a long-standing history of poorly controlled diabetes was admitted with severe oedema. Two weeks earlier, she had been treated with insulin for uncomplicated diabetic ketoacidosis. ⋯ She responded well to oral diuretics and symptoms resolved within a few weeks. Insulin oedema is an uncommon cause of oedema in patients recently commenced on insulin therapy.
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Letter Case Reports
Analysis of 24 cases of polycystic ovary syndrome after failed controlled ovarian hyperstimulation.
Some fertility patients with polycystic ovary syndrome (PCOS) undergoing controlled ovarian hyperstimulation (COH) experience ceased follicular growth during COH and fail to superovulate. In this article, 24 such PCOS patients resumed COH 15-20 days after previous COH treatment was stopped while patients were under ovarian downregulation. ⋯ The remaining seven cases saw ceased follicular growth at 13 mm. This provides a rescue protocol for failed COH patients with PCOS.