Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants.

Synaptic transmission from photoreceptors to ON-bipolar cells (BCs) requires the postsynaptic metabotropic glutamate receptor mGluR6, located at BC dendritic tips. Binding of the neurotransmitter glutamate initiates G protein signaling that regulates the TRPM1 transduction channel. mGluR6 also interacts with presynaptic ELFN adhesion proteins, and these interactions are important for mGluR6 synaptic localization.

A multi-task learning model for clinically interpretable sesamoiditis grading.

Sesamoiditis is a common equine disease with varying severity, leading to increased injury risks and performance degradation in horses. Accurate grading of sesamoiditis is crucial for effective treatment. Although deep learning-based approaches for grading sesamoiditis show promise, they remain underexplored and often lack clinical interpretability.

Explainable machine learning for assessing upper respiratory tract of racehorses from endoscopy videos.

Laryngeal hemiplegia (LH) is a major upper respiratory tract (URT) complication in racehorses. Endoscopy imaging of horse throat is a gold standard for URT assessment. However, current manual assessment faces several challenges, stemming from the poor quality of endoscopy videos and subjectivity of manual grading.

The mental health and traumatic experiences of mothers of children with 22q11DS.

22q11 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome with broad phenotypic variability, leading to significant morbidity and some mortality. The varied health problems associated with 22q11DS and the evolving phenotype (both medical and developmental/behavioural) across the lifespan can strongly impact the mental health of patients as well as their caregivers. Like caregivers of children with other chronic diseases, caregivers of children with 22q11DS may experience an increased risk of traumatisation and mental health symptoms.

Front row seat: The role MMI assessors play in widening access to medical school.

Background: While many medical schools utilize the Multiple Mini-Interview (MMI) to help select a diverse student body, we know little about MMI assessors' roles. Do MMI assessors carry unique insights on widening access (WA) to medical school? Herein we discuss the hidden expertise and insights that assessors contribute to the conversation around WA.

Methods: Ten MMI assessors (1-10 years' experience) participated in semi-structured interviews exploring factors influencing equitable medical school recruitment.

Deep learning model shows promise for detecting and grading sesamoiditis in horse radiographs.

Objective: The objective of this study was to develop a robust machine-learning approach for efficient detection and grading of sesamoiditis in horses using radiographs, specifically in data-limited conditions.

Sample: A dataset of 255 dorsolateral-palmaromedial oblique (DLPMO) and dorsomedial-palmarolateral oblique (DMPLO) equine radiographs were retrospectively acquired from Hagyard Equine Medical Institute. These images were anonymized and classified into 3 categories of sesamoiditis severity (normal, mild, and moderate).

Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in : A Case Report.

The case report describes the presentation of a 42-year-old male ultimately diagnosed with FTD-ALS caused by a genetic mutation, who initially presented with atypical psychiatric symptoms. Given that the initial clinical manifestations of FTD-ALS can be quite variable, the diagnosis is often challenging; the case report aims to highlight several key considerations in the diagnostic assessment, including genetic testing in order to guide clinicians in more timely diagnosis and ultimately improve patient care.

An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome.

Background: Most individuals with 22q11.2 deletion syndrome (22q11DS) have multi-system and lifelong needs requiring substantial support. Their primary caregivers are usually family members who dedicate lifelong time and effort to their role.

Automated detection of low ejection fraction from a one-lead electrocardiogram: application of an AI algorithm to an electrocardiogram-enabled Digital Stethoscope.

Aims: Electrocardiogram (ECG)-enabled stethoscope (ECG-Scope) acquires a single-lead ECGs during cardiac auscultation and may facilitate real-time screening for pathologies not routinely identified by cardiac auscultation alone. We previously demonstrated an artificial intelligence (AI) algorithm can identify left ventricular dysfunction (LVSD) [defined as ejection fraction (EF) ≤ 40%] with an area under the curve (AUC) of 0.91 using a 12-lead ECG.

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.

The vast majority of reported (likely) pathogenic missense variants in the genes coding for the fibrillar collagens leads to the substitution of one of the obligatory glycine residues in the Gly-Xaa-Yaa repeat sequence of the triple helical domain. Their phenotypic consequences and deleterious effects have been well-documented. However, with increasing access to molecular diagnostic testing based on next-generation sequencing techniques, such as sequencing of multi-gene panels and whole-exome sequencing, non-glycine substitutions are more frequently identified in individuals suspected to have a heritable collagen disorder, but their pathogenic effect is often difficult to predict.

Performance of Black and Indigenous applicants in a medical school admissions process.

Background: Diversity in medical schools has lagged behind Canada's growing multicultural population. Dalhousie medical school allows Black and Indigenous applicants to self-identify. We examined how these applicants performed and progressed through the admissions process compared to Other group (applicants who did not self-identify).

Regional variation in COVID-19 positive hospitalisation across Scotland during the first wave of the pandemic and its relation to population density: A cross-sectional observation study.

Background: There have been large regional differences in COVID-19 virus activity across the UK with many commentators suggesting that these are related to age, ethnicity and social class. There has also been a focus on cases, hospitalisations and deaths rather than on hospitalisation rates expressed per 100,000 population. The purpose of our study was to examine regional variation in COVID-19 positive hospitalisation rates in Scotland during the first wave of the pandemic and the possibility that these might be related to population density.

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.

Weill-Marchesani syndrome (WMS) is a rare genetic disorder that affects the musculoskeletal system, the eye, and the cardiovascular system. Individuals with WMS present with short stature, joint contractures, thick skin, microspherophakia, small and dislocated lenses, and cardiac valve anomalies. WMS can be caused by recessive mutations in ADAMTS10 (WMS 1), ADAMTS17 (WMS 4), or LTBP2 (WMS 3), or by dominant mutations in fibrillin-1 (FBN1) (WMS 2); all genes encode secreted extracellular matrix (ECM) proteins.

Grange syndrome due to homozygous YY1AP1 missense rare variants.

Grange syndrome (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Grange syndrome is caused by homozygous or compound heterozygous loss-of-function variants in the YYA1P1 gene. We report on the case of a 53-year old female with novel homozygous missense variants in YYA1P1 (c.

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.

The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT) with joint hypermobility, skin hyperextensibility and tissue fragility, which were recently re-classified (2017 International Classification). Most patients (>90%) with Classical Ehlers-Danlos syndrome (cEDS) have a mutation in the COL5A1 or COL5A2 genes encoding type V procollagen. A small number of patients with the p.

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling.

Three-Dimensional Printing: A Novel Approach to the Creation of Obturator Prostheses Following Palatal Resection for Malignant Palate Tumors.

Background: A subgroup of patients who have an oronasal fistula live in areas that have limited access to oral prosthetics. For these individuals, a temporary prosthesis, such as a palatal obturator, may be necessary in order to speak, eat, and breath properly. The creation of an obturator, which requires a highly trained prosthodontist, can take time and can be expensive.

Health locus of control in patients undergoing coronary artery surgery - changes and associated outcomes: a seven-year cohort study.

Introduction: Health locus of control is a measure of an individual's beliefs in factors that are thought to determine health experiences. Scores are generated and form a graduated linear scale from external to internal control, with respect to their views on health causality. Health locus of control has been considered to be a relatively stable entity.

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.

Objectives: Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features of neurofibromatosis type 1, gastrointestinal (GI) polyposis, and GI, brain, and hematological cancers. This is the first study to characterize the GI phenotype in BMMRD using both retrospective and prospective surveillance data.

Methods: The International BMMRD Consortium was created to collect information on BMMRD families referred from around the world.

The NMC should know spiritual care is as important as ever.

I support the campaign to have spirituality included in the Nursing and Midwifery Council's code of conduct (Reflections, April 29). I was disturbed to find that it was not there when the new Code was published in March.