Hereditary angioedema type 1 (HAE1) is a rare, genetically heterogeneous, and autosomal dominant disease. It is a highly variable, insidious, and potentially life-threatening condition, characterized by sudden local, often asymmetric, and episodic subcutaneous and submucosal swelling, caused by pathogenic molecular variants in the SERPING1 gene, which codes for C1-Inhibitor protein. This study performed the phenotypic and molecular characterization of a HAE1 cluster that includes the largest number of affected worldwide.
View Article and Find Full Text PDFBackground: Patient notes contain substantial information but are difficult for computers to analyse due to their unstructured format. Large-language models (LLMs), such as Generative Pre-trained Transformer 4 (GPT-4), have changed our ability to process text, but we do not know how effectively they handle medical notes. We aimed to assess the ability of GPT-4 to answer predefined questions after reading medical notes in three different languages.
View Article and Find Full Text PDFThe relationship between sarcopenic obesity and hypovitaminosis D in individuals with chronic kidney disease is complex and has significant impacts on muscle and bone health. An observational, cross-sectional, and analytical study was conducted to analyze possible associations between serum vitamin D levels and sarcopenic obesity in patients with chronic kidney disease stages 3 and 4 in a cohort of patients under nephrology care. The presence of sarcopenic obesity was assessed using bioimpedance criteria, and vitamin D levels were measured and recorded for each patient.
View Article and Find Full Text PDFChronic low back pain represents a leading cause of global disability, but can often be complex in etiology, with multiple pain generators contributing to patient discomfort. Anterior column low back pain involves the vertebral bodies and discs, with the vertebral body endplates now known to be a significant pain generator. Vertebrogenic low back pain secondary to irritation of the basivertebral nerve presents as axial discomfort, worse with forward flexion, and with concomitant Type I or II Modic changes on MRI.
View Article and Find Full Text PDFBackground: Although glycated hemoglobin A1C (HbA1c) has classically been used for glycemic control screening before surgery, fructosamine, a short-term glucose variability indicator, has been reported to be a more accurate predictor of postoperative periprosthetic joint infection among patients with diabetes mellitus (DM). Given the variability of diabetic medication management, this study aims to identify the associated effect of glycemic control medication regimen (GCMR) on the incidence rate and associated odds of abnormal preoperative fructosamine levels among diabetic primary total knee arthroplasty or total hip arthroplasty patients.
Methods: Between 2017 and 2018, consecutive series of total hip arthroplasty and total knee arthroplasty patients were identified, and the final cohort included only diabetic patients.