Disorders of vitamin D metabolism have only recently become more widely recognized. In 2011, a series reported six children with familial idiopathic infantile hypercalcaemia, a condition in which patients develop hypercalcaemia following bolus vitamin D supplementation due to mutations in CYP24A1, formerly known as 24-hydroxylase. This is the chief enzyme in the catabolism of 1,25-dihydroxyvitamin D3 (calcitriol) to inactive 1,24,25-(OH)3D3. Isolated cases of loss of function CYP24A1 mutations have been reported across a wide spectrum of ages, including three cases first identified during pregnancy in the context of vitamin D supplementation. We describe a family in which two siblings had hypercalcaemia due to a disorder of calcitriol catabolism as a result of compound heterozygous loss of function mutations of CYP24A1, including a novel mutation K351Nfs*21. The index case, who has kindly given written informed consent for this report, was a female in her mid-20s presenting with symptomatic hypercalcaemia precipitated by vitamin D supplementation in her first pregnancy. In a subsequent pregnancy, she remained normocalcaemic in the absence of supplementation. Her asymptomatic brother was identified through cascade screening. Upregulation of calcitriol production in pregnancy, particularly when combined with vitamin D supplementation, can unmask previously unidentified disorders of vitamin D metabolism. This report emphasizes the importance of screening of family members and the need for caution with vitamin D supplementation in pregnancy.
When a patient presents with acute myelopathy in the developed world, helminthic infection is not routinely considered in the differential diagnosis. We report the case of a 34-year-old South African male who presented with acute urinary retention and lower leg paraesthesiae. Subsequently, myeloradiculopathy secondary to Schistosoma mansoni was diagnosed on the basis of typical magnetic resonance imaging changes in the conus medullaris and positive stool microscopy. Prior to this presentation the patient had lived in urban western South Africa and more recently in New Zealand, without exposure to infected water for 22 years. His symptoms and signs resolved following treatment with praziquantel and methylprednisolone. Spinal schistosomiasis is a rare but serious cause of myelopathy and should be considered in any patient who has ever visited or lived in an endemic area.
Background: Many governments and insurers are driving down the cost of medical devices, including glucose meters, by the central management of purchasing decisions. We report patients' responses to an "enforced" change in brand of glucose meter, one year after the introduction of a national sole supplier arrangement for funded glucose meters and strips.Method: Specialist diabetes clinic attendees from two geographical locations completed a questionnaire one year after the final meter changeover date. In the first location, consecutive patients were asked to complete a glucose meter satisfaction questionnaire during their clinic visit. In the second location, this questionnaire was mailed to clinic attendees. Responses to open questions were analyzed thematically. Results:Response rates were 85% and 31% from the first and second locations, respectively and 378 questionnaires were suitable for analysis, 309 from the first and 69 from the second location. Insulin users composed 90% of participants. Results from the two locations were broadly similar. Most participants adapted well to the changeover, however 36% reported ongoing dissatisfaction with their "new" meter. The commonest concern, expressed by 23% of participants, related to meter accuracy and precision.Conclusions: One year after glucose meter changeover, a third of participants expressed dissatisfaction with their meter, with many participants describing a failure to adapt to the sole supplier arrangement. Providing a choice of meters and strips, ideally from two or more brands that have demonstrable differences in technical and ergonomic features, is likely to produce higher overall patient satisfaction than is a sole supplier arrangement.
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