Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches.

A Type 1 Diabetes Genetic Risk Score (T1DGRS) aids diagnosis and prediction of Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole Genome Sequencing (WGS) provides a more direct approach and is now increasingly used in clinical and research studies. We investigated the concordance between WGS-based and array-based T1DGRS across genetic ancestries in 149,265 UK Biobank participants using WGS, TOPMed-imputed, and 1000 Genomes-imputed array genotypes.

Prediction of metabolic subphenotypes of type 2 diabetes via continuous glucose monitoring and machine learning.

The classification of type 2 diabetes and prediabetes does not consider heterogeneity in the pathophysiology of glucose dysregulation. Here we show that prediabetes is characterized by metabolic heterogeneity, and that metabolic subphenotypes can be predicted by the shape of the glucose curve measured via a continuous glucose monitor (CGM) during standardized oral glucose-tolerance tests (OGTTs) performed in at-home settings. Gold-standard metabolic tests in 32 individuals with early glucose dysregulation revealed dominant or co-dominant subphenotypes (muscle or hepatic insulin-resistance phenotypes in 34% of the individuals, and β-cell-dysfunction or impaired-incretin-action phenotypes in 40% of them).

A case of lead migration after sacral neuromodulation with erosion into the rectum.

We present a case of a 73-year-old female with medication refractory overactive bladder treated with the InterStim® sacral neuromodulation device. Five months post implantation she developed drainage over the lead site and rectal bleeding. Evaluation identified lead migration with rectal perforation requiring surgical removal of the battery and lead.

Metal-organic frameworks of -hydroxybenzoic acid: synthesis, structure and ring opening polymerization capability.

Two new, isostructural, metal-organic frameworks {[Co(OCCHO)(DMF)]} and {[Mn(OCCHO)(DMF)]} have been synthesised and structurally characterized. Use of -hydroxybenzoic acid resulted in a three-dimensional MOF featuring a linker with a carboxylic group and a -hydroxyl group. Ring opening polymerization of ε-caprolactone and δ-valerolactone has been performed using these MOFs as catalysts, and results compared with the known zinc MOF Zn(OCCHO).

Heterogeneous endocrine cell composition defines human islet functional phenotypes.

Phenotyping and genotyping initiatives within the Integrated Islet Distribution Program (IIDP), the largest source of human islets for research in the U.S., provide standardized assessment of islet preparations distributed to researchers, enabling the integration of multiple data types.