Effects of intra-class peer mentorship intervention programme on the academic performances of academically underperforming medical students in Nigeria.

Background: A significant gap exists in understanding the effectiveness of intra-class (same-class) level peer mentorship programmes designed to enhance academic performance, well-being, and student involvement among underperforming medical students. This study assessed the effectiveness of intra-class (same-class) peer mentorship programme on the academic performances, subjective well-being and school engagement of academically underperforming medical students in Nigeria.

Methods: This was a quasi-experimental research consisting of the pretest-posttest control design at Nnamdi Azikiwe University, Awka, Nigeria.

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a rare-disease cohort of 98 samples from 41 families, using nanopore sequencing, achieving per sample ∼36× average coverage and 32-kb read N50 from a single flow cell.

The causal relationship between steroid hormones and risk of stroke: evidence from a two-sample Mendelian randomization study.

It is unclear how steroid hormones contribute to stroke, and conducting randomized controlled trials to obtain related evidence is challenging. Therefore, Mendelian randomization (MR) technique was employed in this study to examine this association. Through genome-wide association meta-analysis, the genetic variants of steroid hormones, including testosterone/17β-estradiol (T/E2) ratio, aldosterone, androstenedione, progesterone, and hydroxyprogesterone, were acquired as instrumental variables.

When We Make Errors and Do Harm: A Narrative Review of Second Victim Syndrome and Implications for Neuro-Ophthalmologists.

Background: In the aftermath of an adverse event, the first priority is to provide care for the patient, known as the first victim. However, the experiences of healthcare professionals (HCPs) involved in these events, known as "second victims", have been largely overlooked. This review aims to consolidate existing knowledge on second victim syndrome (SVS), explore its unique implications for neuro-ophthalmologists, and suggest support strategies to increase awareness and meet the needs of affected colleagues.

Diversity and consequences of structural variation in the human genome.

The biomedical community is increasingly invested in capturing all genetic variants across human genomes, interpreting their functional consequences and translating these findings to the clinic. A crucial component of this endeavour is the discovery and characterization of structural variants (SVs), which are ubiquitous in the human population, heterogeneous in their mutational processes, key substrates for evolution and adaptation, and profound drivers of human disease. The recent emergence of new technologies and the remarkable scale of sequence-based population studies have begun to crystalize our understanding of SVs as a mutational class and their widespread influence across phenotypes.

Association of antihypertensive drug target genes with stroke subtypes: A Mendelian randomization study.

Objective: Epidemiological and genetic studies have elucidated the effect of antihypertensive medication (AHM) on stroke subtypes varying upon drug classes, but which drug target genes, how, and where mediated this association remains unknown. We aimed to investigate the impact of AHM on stroke subtypes.

Methods: Genetic instruments for the expression of AHM target genes were identified with expression quantitative trait loci in blood, which should be associated with systolic blood pressure (SBP) to proxy for the effect of AHM.

The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.

Hearing loss (HL) is the most common sensory disorder, characterized by a wide range of causes, including both environmental and genetic factors. While single-nucleotide variants (SNVs) and small insertions/deletions have been extensively studied, the role of structural variations (SVs) in hearing impairment has gained increasing recognition. This review article aims to provide a comprehensive overview of the importance of SVs in HL, by exploring the SVs associated with HL and their underlying pathogenic mechanisms.

Mid-term Outcomes of Patella Resurfacing During Total Knee Arthroplasty (TKA): Clinical, Functional, and Radiographic Insights.

Aim The primary objective of the study was to evaluate the mid-term implant survivability, rate of revisions, and clinical and functional outcomes following patella resurfacing during total knee arthroplasty (TKA) utilizing posterior stabilized (PS) total knee system (TKS). Methods A prospective, single-arm, multi-center, post-marketing surveillance encompassed patients with end-stage primary knee osteoarthritis (OA) or inflammatory arthritis. The time points of the study included baseline, six weeks, six months, one year, and three years post-operatively.

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Introduction: Structural variants (SVs) of the nebulin gene (), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs in .

Compensation Study of Vascular Surgeons in the United States.

Objective: The Society for Vascular Surgery (SVS) partnered with Phairify, Inc, an organization with experience in physician compensation data compilation for several other medical specialties, to survey its membership and assess factors influencing vascular surgeon compensation.

Methods: The SVS Compensation Study Task Force developed a vascular surgery-specific survey between January 2023 and May 2023 including experience level, academic rank, bonuses, incentives, gender, race, ethnicity, geography, on-call pay, and other factors influencing overall reimbursement. After a soft launch on May 1, 2023, with an initial phase of SVS leadership engagement in completion, the survey was formally introduced to the SVS membership on June 14, 2023.

Real-world outcomes on myopia management efficacy of diverse segmented defocus optics (DSDO) and defocus incorporated multiple segments (DIMS) spectacle lenses in Chinese children: An initial 12-month prospective clinical study.

Purposes: To investigate the 12-month effectiveness of Diverse Segmented Defocus Optics (DSDO) and Defocus Incorporated Multiple Segments (DIMS) spectacle lenses in a real-world clinical population in myopic and pre-myopic Chinese children.

Methods: About 364 subjects prescribed DSDO or DIMS were enrolled. Axial length (AL) and cycloplegic spherical equivalent refraction (SER) changes over 12 months were measured.

Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping.

Carcinogenesis often involves significant alterations in the cancer genome, marked by large structural variants (SVs) and copy number variations (CNVs) that are difficult to capture with short-read sequencing. Traditionally, cytogenetic techniques are applied to detect such aberrations, but they are limited in resolution and do not cover features smaller than several hundred kilobases. Optical genome mapping (OGM) and nanopore sequencing [Oxford Nanopore Technologies (ONT)] bridge this resolution gap and offer enhanced performance for cytogenetic applications.

Perception of Residency Program Diversity Is Associated With Vulnerability to Race and Gender Stereotype Threat Among Minority and Female Orthopaedic Trainees.

Introduction: Stereotype threat (ST) is a psychological phenomenon in which perceived fear of confirming negative stereotypes about one's identity group leads to impaired performance. Gender and racial ST has been described in various academic settings. However, it is prevalence in orthopaedic surgery, where women and minorities are underrepresented, has not been examined.

Exploring the association between orthodontic treatment and temporomandibular disorders in pediatric patient: A retrospective study.

Objective: This retrospective study aimed to investigate the association between orthodontic treatment and development of temporomandibular disorders (TMDs) in pediatric patients.

Methods: This study analyzed 122 pediatric patients (age 10-18 years) who underwent orthodontic treatment. The inclusion criteria included comprehensive orthodontic records and substantial clinical documentation, while the exclusion criteria targeted preexisting TMDs or syndromes affecting the temporomandibular joint.

Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics.

Background: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletion/duplication. Herein, we evaluated its diagnostic utility in a prospective back-to-back prenatal comparative study with CMA.

Methods: From October 2021 to September 2023, 426 fetuses with ultrasound anomalies were prospectively recruited for mate-pair sequencing and CMA in parallel for prenatal genetic diagnosis.

Rare germline structural variants increase risk for pediatric solid tumors.

Pediatric solid tumors are a leading cause of childhood disease mortality. In this work, we examined germline structural variants (SVs) as risk factors for pediatric extracranial solid tumors using germline genome sequencing of 1765 affected children, their 943 unaffected parents, and 6665 adult controls. We discovered a sex-biased association between very large (>1 megabase) germline chromosomal abnormalities and increased risk of solid tumors in male children.

Understanding the Second Victim Phenomenon Among Healthcare Workers in an Italian Hospital.

Second victim syndrome (SVS) refers to the psychological trauma experienced by healthcare workers (HCWs) as a result of being involved in an adverse event (AE). Research on the prevalence of SVS and the support needed for HCWs who experience it is limited. A cross-sectional study was conducted at the Health Local Unit of Lecce, in Puglia, to identify the phenomenon of SVS among HCWs and recognize the forms of support received and desired.

UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV.

Background: Interpreting the pathogenicity of genetic variants associated with rare diseases is a laborious and time-consuming endeavour. To streamline the diagnostic process and lighten the burden of variant interpretation, it is crucial to automate variant annotation and prioritization. Unfortunately, currently available variant interpretation tools lack a unified and comprehensive workflow that can collectively assess the clinical significance of these types of variants together: small nucleotide variants (SNVs), small insertions/deletions (INDELs), copy number variants (CNVs) and structural variants (SVs).

Measuring personality in Libyan Arabs: validating the big five aspect scale with 10 factors domain.

Research has developed the Big-Five Aspect Scale (BFAS), supporting a five-domain model that includes 10 related aspects. In Arabic societies, there is currently a lack of validation evidence for a scale with these 10 aspects. Thus, this study develops and examines the psychometric properties of the short version of the BFAS (BFAS-SV) within Libyan Arab adults.

Neuroticism and cerebral small vessel disease: A genetic correlation and Mendelian randomization analysis.

Objectives: The association of neuroticism and cerebral small vessel disease (CSVD) development remains unclear. In this study, we used Mendelian randomization (MR) to explore the potential role of neuroticism in CSVD development.

Methods: We collected data on ischemic stroke (IS); small vessel stroke (SVS); three neuroimaging markers altered in CSVD, including white matter hyperintensity (WMH), fractional anisotropy (FA), and mean diffusivity (MD); and three neuroticism clusters, including depressed affect, worry, sensitivity to environmental stress and adversity (SESA), from large-scale genome-wide association studies (GWAS).

A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.

Purpose: Although chromosome 21 is the smallest human chromosome, it is highly relevant in the pathogenicity of both cancer and congenital diseases, including Alzheimer disease and trisomy 21 (Down syndrome). In addition, cases with rare structural variants (SVs) of chromosome 21 have been reported. These events vary in size and include large chromosomal events, such as ring chromosomes and small partial aneuploidies.

Uncovering the complexity of structural variants in four individuals with autism spectrum disorder.

Autism spectrum disorder (ASD) is an increasingly recognized childhood developmental disorder. Despite extensive study, causal variants and molecular diagnosis remain elusive. There is both heterogeneity of the phenotype, as well as the genetic landscape associated with phenotype, which includes both inherited and de novo mutations.

A comparative study of storage solutions on the biomechanical preservation of human saphenous veins.

Storage solutions have a significant impact on the physiological properties of saphenous veins (SV), yet their effects on the biomechanics remained unclear. This study investigated how different storage solutions affect the biomechanical properties of SV. The goal was to find a solution that minimally impacts SV biomechanics, providing an effective method for SV preservation.