Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores.

Correct classification of type 1 (T1D) and type 2 diabetes (T2D) is challenging due to overlapping clinical features and the increasingly early onset of T2D, particularly in South Asians. Polygenic risk scores (PRSs) for T1D and T2D have been shown to work relatively well in South Asians, despite being derived from largely European-ancestry samples. Here we used PRSs to investigate the rate of potential misclassification of diabetes amongst British Bangladeshis and Pakistanis.

Comparing code-free and bespoke deep learning approaches in ophthalmology.

Aim: Code-free deep learning (CFDL) allows clinicians without coding expertise to build high-quality artificial intelligence (AI) models without writing code. In this review, we comprehensively review the advantages that CFDL offers over bespoke expert-designed deep learning (DL). As exemplars, we use the following tasks: (1) diabetic retinopathy screening, (2) retinal multi-disease classification, (3) surgical video classification, (4) oculomics and (5) resource management.

Predictors of 10-year Mortality After Hip Fracture Surgery in a Pre-Pandemic Cohort.

Introduction: Though hip fractures are associated with significant mortality and morbidity, increasing life expectancy in developed countries necessitates an analysis of mortality trends and factors predicting long term survival. The aim of this study is to identify the predictors of 10-year mortality as well as assess the correlation of Age-adjusted Charlson comorbidity index (ACCI) with 10-year mortality in a surgically treated Asian geriatric hip fracture population.

Materials And Methods: From January 1, 2007 to December 31, 2009, 766 patients who underwent surgery for hip fracture with a minimum follow up of 10-years were recruited to the study (92% follow-up rate).

Do we need a co-pilot in the operating theatre? A cross-sectional study on surgeons' perceptions.

Objective: The aim of this original study was to investigate general surgeons' perceptions on the role of dual surgeon operating for high-risk, elective complex surgical procedures.

Material And Methods: A 21-part cross-sectional online survey was self-completed by 85 general surgeons across hospitals in the UK. The survey assessed the perception of dual surgeon operating on patient morbidity and mortality, surgeons' burnout rates, complaints, patient waiting times and overall trainee experience.

A foundation model for generalizable disease detection from retinal images.

Medical artificial intelligence (AI) offers great potential for recognizing signs of health conditions in retinal images and expediting the diagnosis of eye diseases and systemic disorders. However, the development of AI models requires substantial annotation and models are usually task-specific with limited generalizability to different clinical applications. Here, we present RETFound, a foundation model for retinal images that learns generalizable representations from unlabelled retinal images and provides a basis for label-efficient model adaptation in several applications.

Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances.

Background: Current strategies for preimplantation genetic testing for aneuploidy or structural rearrangements (PGT-A/SR) rely mainly on next-generation sequencing (NGS) and microarray platforms, which are robust but require expensive instrumentation. We explored the suitability of third-generation single-molecule sequencing as a PGT-A/SR screening platform for both aneuploidy and segmental imbalance.

Methods: Single-cell and multicell replicates from aneuploid or segmentally unbalanced cell lines (n = 208) were SurePlex-amplified, randomized, and subjected to (a) Nanopore-based single-molecule sequencing (Oxford Nanopore Technologies) and (b) NGS using a leading commercial PGT-A solution (Illumina VeriSeq PGS).

Association Between Retinal Features From Multimodal Imaging and Schizophrenia.

Importance: The potential association of schizophrenia with distinct retinal changes is of clinical interest but has been challenging to investigate because of a lack of sufficiently large and detailed cohorts.

Objective: To investigate the association between retinal biomarkers from multimodal imaging (oculomics) and schizophrenia in a large real-world population.

Design, Setting, And Participants: This cross-sectional analysis used data from a retrospective cohort of 154 830 patients 40 years and older from the AlzEye study, which linked ophthalmic data with hospital admission data across England.

Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.

Moderate to hyper-expansion of trinucleotide repeats at the FRAXA and FRAXE fragile sites, with or without concurrent hypermethylation, has been associated with intellectual disability and other conditions. Unlike molecular diagnosis of FMR1 CGG repeat expansions in FRAXA, current detection of AFF2 CCG repeat expansions in FRAXE relies on low-throughput and otherwise inefficient techniques combining Southern blot analysis and PCR. A novel triplet-primed PCR assay was developed for simultaneous screening for trinucleotide repeat expansions at the FRAXA and FRAXE fragile sites, and was validated using archived clinical samples of known FMR1 and AFF2 genotypes.