Clinical medicine (London, England)
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Inherited diseases are a frequent cause of end-stage kidney disease and often seen in the kidney clinic. Clinical genomic testing is increasingly available in the UK and eligible patients in England can be referred through the NHS Genomic Medicine Service. Testing is useful for diagnosis, prognostication and management of conditions such as autosomal dominant polycystic kidney disease (ADPKD), Alport syndrome, autosomal dominant tubulointerstitial kidney disease (ADTKD) and focal segmental glomerulosclerosis (FSGS). As more patients undergo genomic testing and newer technologies such as whole genome sequencing are applied, we are developing a greater appreciation of the full phenotypic spectrum of inherited kidney diseases and the challenges associated with the interpretation of clinically significant variants.
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Case Reports
Valproate-induced hyperammonemic encephalopathy treated by L-ornithine-L-aspartate: a case report.
A 63-year-old man developed reduced consciousness and dysphagia progressively. Examination and parameters were normal, except for a Glasgow Coma Scale score of seven, and his grading on the swallow water test increased from grade 1 to grade 5. Brain imaging and blood tests were unexplainable except by high plasma ammonia. ⋯ There is an association between sodium valproate and hyperammonaemia and encephalopathy. Immediate recognition of the serious but uncommon adverse effects is essential. To our knowledge this is the first report of ornithine aspartate being used in this disorder.
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Chronic kidney disease (CKD) represents an enormous healthcare burden, the management of which has been stagnant for the last couple of decades, with blockade of the renin-angiotensin-aldosterone system (RAAS) the most potent tool available to retard kidney disease progression. In the new cardiometabolic era, sodium-glucose cotransporter-2 inhibitors (SGLT2i) have emerged as forerunners in addressing combined cardiorenal risk. This review summarises the evidence for SGLT2i use in diabetic and non-diabetic CKD and examines the risk:benefit profile in this population. Novel non-steroidal mineralocorticoid receptor antagonists are also considered as an emerging pillar of CKD management, and their role in optimising the cardiorenal health of patients with diabetic kidney disease is discussed.
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ChatGPT, which can automatically generate written responses to queries using internet sources, soon went viral after its release at the end of 2022. The performance of ChatGPT on medical exams shows results near the passing threshold, making it comparable to third-year medical students. It can also write academic abstracts or reviews at an acceptable level. ⋯ However, sophisticated tasks such as understanding the human anatomy are still a limitation of ChatGPT. ChatGPT can simplify radiological reports, but the possibility of incorrect statements and missing medical information remain. Although ChatGPT has the potential to change medical practice, education and research, further improvements of this application are needed for regular use in medicine.
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Catatonia is a severe neuropsychiatric syndrome that affects emotion, speech, movement and complex behaviour. It can occur in a wide range of psychiatric and neurological conditions, including depression, mania, schizophrenia, autism, autoimmune encephalitis (particularly NMDAR encephalitis), systemic lupus erythematosus, thyroid disease, epilepsy and medication-induced and -withdrawal states. This concise guideline highlights key recommendations from the British Association for Psychopharmacology (BAP) Catatonia Guideline, published in April 2023. ⋯ The benzodiazepine of choice is lorazepam, which is sometimes used in very high doses. Multidisciplinary working between psychiatrists and physicians is often essential. The main limitation of the guidelines is the low quality of the underlying evidence, comprising mainly small observational studies and case reports or series.