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.

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.

Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.

Purpose: We aimed to characterize the ocular phenotype of patients with ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome and their response to therapy.

Design: Single-center observational case study.

Participants: Eleven patients with a diagnosis of ROSAH syndrome and mutation in ALPK1 were included.

Vital signs and early warning score monitoring: perceptions of clinical staff about current practices and introducing an electronic rapid response system.

Aims And Objectives: This study investigated clinical staff perceptions of learning about current monitoring practices and the planned introduction of an electronic system for patient monitoring. The aim of this research was to evaluate the perceptions of clinical staff (nurses and doctors) about the perceived strengths and weaknesses of the current state of the rapid response system (RRS) and how those strengths and weakness would be affected by introducing an electronic RRS.

Methods: This research applied a descriptive study methodology.

Investigation of the Effect of Exendin-4 on Oleic Acid-Induced Steatosis in HepG2 Cells Using Fourier Transform Infrared Spectroscopy.

Non-alcoholic fatty liver disease (NAFLD) is a common liver lesion that is untreatable with medications. Glucagon-like peptide-1 receptor (GLP-1R) agonists have recently emerged as a potential NAFLD pharmacotherapy. However, the molecular mechanisms underlying these drugs' beneficial effects are not fully understood.

Characteristic MicroRNAs Linked to Dysregulated Metabolic Pathways in Qatari Adult Subjects With Obesity and Metabolic Syndrome.

Background: Obesity-associated dysglycemia is associated with metabolic disorders. MicroRNAs (miRNAs) are known regulators of metabolic homeostasis. We aimed to assess the relationship of circulating miRNAs with clinical features in obese Qatari individuals.

Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging.

Purpose: To assess the structure of cone photoreceptors and retinal pigment epithelial (RPE) cells in vitelliform macular dystrophy (VMD) arising from various genetic etiologies.

Methods: Multimodal adaptive optics (AO) imaging was performed in 11 patients with VMD using a custom-assembled instrument. Non-confocal split detection and AO-enhanced indocyanine green were used to visualize the cone photoreceptor and RPE mosaics, respectively.