Non-laboratory-based risk assessment model for case detection of diabetes mellitus and pre-diabetes in primary care.

INTRODUCTION: More than half of diabetes mellitus (DM) and pre-diabetes (pre-DM) cases remain undiagnosed, while existing risk assessment models are limited by focusing on diabetes mellitus only (omitting pre-DM) and often lack lifestyle factors such as sleep. This study aimed to develop a non-laboratory risk assessment model to detect undiagnosed diabetes mellitus and pre-diabetes mellitus in Chinese adults. METHODS: Based on a population-representative dataset, 1,857 participants aged 18-84 years without self-reported diabetes mellitus, pre-diabetes mellitus, and other major chronic diseases were included. The outcome was defined as a newly detected diabetes mellitus or pre-diabetes by a blood test. The risk models were developed using logistic regression (LR) and interpretable machine learning (ML) methods. Models were validated using area under the receiver-operating characteristic curve (AUC-ROC), precision-recall curve (AUC-PR), and calibration plots. Two existing diabetes mellitus risk models were included for comparison. RESULTS: The prevalence of newly diagnosed diabetes mellitus and pre-diabetes mellitus was 15.08%. In addition to known risk factors (age, BMI, WHR, SBP, waist circumference, and smoking status), we found that sleep duration, and vigorous recreational activity time were also significant risk factors of diabetes mellitus and pre-diabetes mellitus. Both LR (AUC-ROC = 0.812, AUC-PR = 0.448) and ML models (AUC-ROC = 0.822, AUC-PR = 0.496) performed well in the validation sample with the ML model showing better discrimination and calibration. The performance of the models was better than the two existing models. CONCLUSIONS: Sleep duration and vigorous recreational activity time are modifiable risk factors of diabetes mellitus and pre-diabetes in Chinese adults. Non-laboratory-based risk assessment models that incorporate these lifestyle factors can enhance case detection of diabetes mellitus and pre-diabetes.

Aplasia of the optic nerve.

Aplasia of the optic nerve is an extraordinarily rare congenital anomaly that affects one or both optic nerves and is associated with the absence of the central retinal vessel and retinal ganglion cells. We report a case of unilateral optic nerve aplasia in a 4-month-old infant who was found to have left microphthalmos on routine postnatal checkup. Family history, antenatal history, and systemic evaluation were unremarkable. Magnetic resonance imaging showed absent left optic nerve with left microphthalmos. The optic chiasm was present and slightly deviated towards the right side. The remaining cerebral and ocular structures were normal.

Congenital pseudarthrosis of the clavicle: a rare and challenging diagnosis.

Congenital pseudarthrosis of the clavicle is a rare clinical entity, first described in 1910. We report on a newborn baby girl who presented with a painless lump over mid-portion of right clavicle at her routine newborn examination, which was subsequently diagnosed as a congenital pseudarthrosis. Here we explore its pathogenesis, elaborate on its differential diagnoses in paediatric patients, and comment on its distinct radiological features.

Paediatric thyroid carcinoma in disguise: papillary thyroid carcinoma presenting with thyrotoxicosis and diffuse goiter.

Abstract Papillary thyroid carcinoma is rare in children. Its clinical manifestation may deviate from that observed in adult patients. We present a 14-year-old girl with papillary thyroid carcinoma. We then discuss various distinctive sonographic signs that may aid diagnosis, and we discuss differences in clinical features between children and adults [added].