Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.

BACKGROUND: Diabetes presenting in young adults is often challenging to classify. Diabetic ketoacidosis is typically seen in autoimmune type 1 diabetes mellitus and more rarely in young onset type 2 diabetes mellitus. Beta-ketothiolase deficiency (BKD) is a rare autosomal recessive condition affecting isoleucine catabolism and ketone body metabolism. BKD typically manifests in childhood as recurrent episodes of ketoacidosis, the frequency of which tends to reduce with age. There is a paucity of data with respect to the co-existence of persistent dysglycemia with BKD. CASE PRESENTATION AND LITERATURE REVIEW: We present a novel case of diabetes presenting as diabetic ketoacidosis in a 34-year-old man with BKD, with genetically confirmed compound heterozygosity for variants in ACAT1, including a novel ACAT1 c.481T>C, p.(Tyr161His) variant. Diabetes in people with BKD presents unique diagnostic and management challenges. To further contextualize our findings, we conducted a comprehensive narrative review of the existing literature with respect to dysglycemia in those with BKD, especially in adulthood. There are no existing reports describing diabetes in adults with BKD. Stress hyperglycemia is not uncommon when children with BKD are acutely unwell, with several pediatric case reports describing short-lived hyperglycemia but normal HbA1c measurements during metabolic crises (indicating the absence of persistent hyperglycemia). CONCLUSIONS: This is the first report of diabetic ketoacidosis in an adult with BKD, with an elevated HbA1c consistent with persistent hyperglycemia. This case highlights the importance of checking HbA1c in people with BKD and hyperglycemia in order to uncover potential coexisting diabetes, facilitating timely management and preventing complications. Increased reporting on the longitudinal outcomes of those with rare metabolic disorders is essential for identifying potential associations with conditions like diabetes.

New diagnosis of diabetes and severe hyperlipidemia at 3 months postpartum presenting as florid diabetic retinopathy and eruptive xanthomas.

A 33-year-old woman presented to the Emergency Department at 3 months postpartum with a 2-day history of a partial left sixth cranial nerve palsy, and several weeks' history of bilateral blurred vision and papular skin lesions. Brain imaging and ultrasound of the carotid and vertebral arteries were all normal. Investigations revealed severe hyperlipidemia and a venous blood glucose level of 19.6 mmol/L despite a negative result on a 75-g oral glucose tolerance test at 32 weeks of pregnancy. Fundus photography demonstrated bilateral severe proliferative diabetic retinopathy with lipemia retinalis. The skin lesions were consistent with xanthomas on biopsy. The partial left sixth cranial nerve palsy and the bilateral rapidly progressive diabetic retinopathy were likely secondary to peripheral ischemia from serum hyperviscosity and displacement due to severe hyperlipidemia. The rapid progression of symptoms was likely triggered by a postpartum diet high in saturated fats in the context of presumed genetic predisposition.

Longer-term outcomes in offspring of GDM mothers treated with metformin versus insulin.

Insulin has traditionally been the gold standard pharmacological treatment for gestational diabetes mellitus (GDM). Insulin requires multiple injections a day, can cause frequent hypoglycaemia, requires careful handling, and is generally more expensive compared to oral agents. Metformin has been increasingly popular in recent years. Based on the short-term data available, metformin appears to be safe and effective for the treatment of GDM but existing studies have all stressed the lack of longer-term offspring data. This article will analyse the evidence available on the longer-term outcomes in the offspring of women with GDM treated with metformin versus insulin. Pubmed, EMBASE, CENTRAL, and CNKI were searched for follow-up studies of randomised controlled trials that compared metformin with insulin for the treatment of GDM. Existing follow-up studies did not find any significant increase in the risk of adverse effects in terms of growth and development in the offspring of GDM mothers managed with metformin versus insulin.

Under-reporting of socioeconomic status of patients in stroke trials: adherence to CONSORT principles.

BACKGROUND AND PURPOSE: The 2001 Revised Consolidated Standards of Reporting of Trials (CONSORT) statement requires reporting of Randomized Controlled Trials (RCTs) to include participants' baseline demographics. This enables comparison of intervention and control groups on potential confounding variables as well as assessment of study generalizability. Socioeconomic status (SES) is associated with access to care and outcomes (mortality, functional outcome, recurrent stroke, and hospital readmission) poststroke. We aimed to document the reporting of baseline SES in reports of RCTs of stroke and transient ischemic attack. METHODS: Measures of SES were extracted from studies reporting trials of stroke or transient ischemic attack published in 12 major journals in the disciplines of general medicine, general neurology, cerebrovascular disease, and rehabilitation subsequent to revised CONSORT. Percentages of studies reporting SES measures were calculated. Differences in reporting between journal categories, and temporal trends in reporting, were tested. RESULTS: Only 12% of studies reported any SES measure. Journal categories did not differ in rate of SES reporting. SES reporting did not increase over time. CONCLUSIONS: Improving reporting of SES could enhance clinicians' ability to evaluate RCT findings and apply them to their patients.