Variants in NR6A1 cause a novel oculo vertebral renal syndrome.

Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular diagnosis. We describe an autosomal dominant oculo-vertebral-renal (OVR) syndrome in six independent families characterized by colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities.

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases.

We present a 2-year-old male with bilateral iris and chorioretinal colobomas, speech delays, and facial and digital anomalies. Trio exome sequencing demonstrated a de novo, novel heterozygous variant, c.379G>A p.

Employing Consensus-Based Reasoning with Locally Deployed LLMs for Enabling Structured Data Extraction from Surgical Pathology Reports.

Surgical pathology reports contain essential diagnostic information, in free-text form, required for cancer staging, treatment planning, and cancer registry documentation. However, their unstructured nature and variability across tumor types and institutions pose challenges for automated data extraction. We present a consensus-driven, reasoning-based framework that uses multiple locally deployed large language models (LLMs) to extract six key diagnostic variables: site, laterality, histology, stage, grade, and behavior.

Multimodal Generative AI for Anatomic Pathology-A Review of Current Applications to Envisage the Future Direction.

This review focuses on the purported applications of multimodal Gen-AI models for anatomic pathology image analysis and interpretation to predict future directions. A scoping review was conducted to explore the applications of multimodal Gen-AI models in advancing histopathology image analysis. A comprehensive search was conducted using electronic databases for relevant articles published within the past year (July 1, 2023 to June 30, 2024).

REASONING BEYOND ACCURACY: EXPERT EVALUATION OF LARGE LANGUAGE MODELS IN DIAGNOSTIC PATHOLOGY.

Background: Diagnostic pathology depends on complex, structured reasoning to interpret clinical, histologic, and molecular data. Replicating this cognitive process algorithmically remains a significant challenge. As large language models (LLMs) gain traction in medicine, it is critical to determine whether they have clinical utility by providing reasoning in highly specialized domains such as pathology.

A zebrafish model of loss of function has small and misshapen lenses with dysregulated and expression.

Introduction: Heterozygous deletions predicting haploinsufficiency for the Cysteine Rich Motor Neuron 1 () gene have been identified in two families with macrophthalmia, colobomatous, with microcornea (MACOM), an autosomal dominant trait. encodes a type I transmembrane protein that is expressed at the cell membrane of lens epithelial and fiber cells at the stage of lens pit formation. Decreased Crim1 expression in the mouse reduced the number of lens epithelial cells and caused defective adhesion between lens epithelial cells and between the epithelial and fiber cells.

Cone Rod Homeobox (): literature review and new insights.

The development of the neural retina requires a complex, spatiotemporally regulated network of gene expression. Here we review the role of the cone rod homeobox () transcription factor in specification and differentiation of retinal photoreceptors and its function in inherited retinal diseases such as cone-rod dystrophy (CoRD), dominant retinitis pigmentosa (RP), and Leber's congenital amaurosis (LCA). We delineate the findings of animal models and, more recently, human retinal organoids in elucidating molecular mechanisms of CRX activity and the pathogenesis of inherited photoreceptor degenerations.

A multi-ancestry genome-wide association study and evaluation of polygenic scores of LDL-C levels.

The genetic determinants of low-density lipoprotein cholesterol (LDL-C) levels in blood have been predominantly explored in European populations and remain poorly understood in Middle Eastern populations. We investigated the genetic architecture of LDL-C variation in Qatar by conducting a genome-wide association study (GWAS) on serum LDL-C levels using whole genome sequencing data of 13,701 individuals (discovery; n = 5,939, replication; n = 7,762) from the population-based Qatar Biobank (QBB) cohort. We replicated 168 previously reported loci from the largest LDL-C GWAS by the Global Lipids Genetics Consortium (GLGC), with high correlation in allele frequencies (R = 0.

Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.

Purpose: To report the variants and genotype-phenotype correlations in patients with familial exudative vitreoretinopathy (FEVR) included in the eyeGENE database.

Methods: A retrospective study was conducted in a cohort of 122 eyeGENE patients from 114 families with FEVR. Clinical details and genetic test results were provided by referring clinicians and clinical laboratories in the eyeGENE network, respectively.

Generative Artificial Intelligence in Anatomic Pathology.

Context.—: Generative artificial intelligence (AI) has emerged as a transformative force in various fields, including anatomic pathology, where it offers the potential to significantly enhance diagnostic accuracy, workflow efficiency, and research capabilities.

Objective.

Variants in cause a novel oculo-vertebral-renal (OVR) syndrome.

Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular diagnosis. We describe a novel autosomal dominant oculo-vertebral-renal (OVR) syndrome in six independent families characterized by colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities.

Industrialization meets sustainability: Analysing the role of technological innovations, energy efficiency and urbanisation for major industrialized economies.

Considering how crucial environmental quality is to development, production often takes precedence over the development process when certain macroeconomic policies are being implemented. This phenomenon has been the subject of several studies conducted in various regions and nations. In this context, the recent article explores the nonlinear effects of industrial output, renewable energy, technological innovations, energy efficiency, and urbanization on CO emissions in the top ten industrialized countries.

SLC16A8 is a causal contributor to age-related macular degeneration risk.

Age-related macular degeneration (AMD), a complex neurodegenerative disease, is a leading cause of visual impairment worldwide with a strong genetic component. Genetic studies have identified several loci, but few causal genes with functional characterization. Here we highlight multiple lines of evidence which show a causal role in AMD for SLC16A8, which encodes MCT3, a retinal pigment epithelium (RPE) specific lactate transporter.

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

Importance: Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the genetic basis underlying IRDs remains elusive. Addressing this gap seems important for gaining insights into the genetic landscape of IRDs, which may help improve diagnosis and prognosis and develop targeted therapies in the future.

Does US monetary policy uncertainty affect returns of Asian Developed, emerging, and frontier equity markets? Empirical evidence by using the quantile-on-quantile approach.

This paper examines the impact of the Monetary Policy Uncertainty (MPU) of the United States on Asian developed, emerging, and frontier stock markets using a Quantile-on-Quantile (QQR) approach by using monthly data from January 2006 to December 2022 of 14 Asian countries. The study finds that US monetary policy significantly negatively influences Asian stock markets. This is primarily due to the widespread use of the US dollar as a universal currency, resulting in substantial ripple effects on other nations through trade relationships.

OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA : A Novel Optical Coherence Tomography Finding Common in RP1 -Related Retinopathy.

Purpose: To describe a novel optical coherence tomography (OCT) finding of outer retina microcavitations in RP1 -related retinopathy and other retinal degenerations.

Methods: Medical charts and OCT images of 28 patients with either autosomal dominant retinitis pigmentosa or autosomal recessive retinitis pigmentosa RP1 -related retinopathy were reviewed. Outer retina microcavitations were defined as hyporeflective OCT structures of at least 30 µ m in diameter between the ellipsoid zone and retinal pigment epithelium.

Challenges and barriers of using large language models (LLM) such as ChatGPT for diagnostic medicine with a focus on digital pathology - a recent scoping review.

Background: The integration of large language models (LLMs) like ChatGPT in diagnostic medicine, with a focus on digital pathology, has garnered significant attention. However, understanding the challenges and barriers associated with the use of LLMs in this context is crucial for their successful implementation.

Methods: A scoping review was conducted to explore the challenges and barriers of using LLMs, in diagnostic medicine with a focus on digital pathology.

Photo-thermal synergistic excitation: Feasible strategy to detect ethanol for wide bandgap ZIF-8 at low work temperature.

Zeolitic Imidazolate Framework-8 (ZIF-8) material was prepared by chemical precipitation method. The microstructure and physical properties of the as-prepared samples were characterized by XRD, BET, FESEM and UV spectrophotometer. The self-made four-channel measurement device was used to test the gas sensitivity of ZIF-8 material toward ethanol gas under photo-thermal synergistic excitation.

Managers' leadership competencies and sustainable development goals in turbulent markets: the enabling role of resource commitment.

Research on the sustainable development goals (SDGs) has brought attention to the significance of small and medium enterprises (SMEs) due to their substantial contributions to economic growth. However, SMEs still need to develop integrated frameworks to assess the implications of sustainable operations while managing scarce resources. In this study, we investigate how top managers of SMEs utilize leadership competencies to balance and allocate resources for SDGs in a turbulent environment.

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.

Anophthalmia and microphthalmia (A/M) are among the most severe congenital developmental eye disorders. Despite the advancements in genome screening technologies, more than half of A/M patients do not receive a molecular diagnosis. We included seven consanguineous families affected with A/M from Pakistani cohort and an unknown molecular basis.

Use of pager devices in New Zealand public hospitals as a critical communication tool: Barriers & way forward.

Objectives: The aim of this study was to analyse the current use, identify challenges and barriers and propose a way forward for the use of the pager devices in the in-hospital communications.

Methods: Initially, 447 studies were identified through database searching. After checking against the eligibility, 39 studies were included.

Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates.

Purpose: To systematically assess the ability to detect change and retest reliability for a panel of visual function assessments in ABCA4 retinopathy.

Design: Prospective natural history study (NCT01736293).

Methods: Patients with at least 1 documented pathogenic ABCA4 variant and a clinical phenotype consistent with ABCA4 retinopathy were recruited from a tertiary referral center.

Construction and validation of ShaMaq developmental screening tool.

Introduction: The diagnosis of developmental delay and early intervention ameliorates long-term sequelae. There is a need for an appropriate, regionally adapted and reliable developmental screening tool to be used in low and middle-income countries with scarce resources.

Aim: The aim of this research is to construct and validate a screening tool for identifying developmental delay in Pakistani children.

An integrated multi-omic approach demonstrates distinct molecular signatures between human obesity with and without metabolic complications: a case-control study.

Objectives: To examine the hypothesis that obesity complicated by the metabolic syndrome, compared to uncomplicated obesity, has distinct molecular signatures and metabolic pathways.

Methods: We analyzed a cohort of 39 participants with obesity that included 21 with metabolic syndrome, age-matched to 18 without metabolic complications. We measured in whole blood samples 754 human microRNAs (miRNAs), 704 metabolites using unbiased mass spectrometry metabolomics, and 25,682 transcripts, which include both protein coding genes (PCGs) as well as non-coding transcripts.