Genome-wide association studies are enriched for interacting genes.

Background: With recent advances in single cell technology, high-throughput methods provide unique insight into disease mechanisms and more importantly, cell type origin. Here, we used multi-omics data to understand how genetic variants from genome-wide association studies influence development of disease. We show in principle how to use genetic algorithms with normal, matching pairs of single-nucleus RNA- and ATAC-seq, genome annotations, and protein-protein interaction data to describe the genes and cell types collectively and their contribution to increased risk.

A machine learning model to predict the risk factors causing feelings of burnout and emotional exhaustion amongst nursing staff in South Africa.

Background: The demand for quality healthcare is rising worldwide, and nurses in South Africa are under pressure to provide care with limited resources. This demanding work environment leads to burnout and exhaustion among nurses. Understanding the specific factors leading to these issues is critical for adequately supporting nurses and informing policymakers.

Impact of COVID-19 on nurse outcomes in the private sector of South Africa: a cross-sectional study.

Background: This study explored and described the impact of the COVID-19 pandemic on nurse outcomes in the private sector of South Africa. National research shows that nurses had poor nurse outcomes prior to the pandemic, amidst these issues the COVID-19 pandemic occurred, with nurses having to play a key role in the public health response. International studies have shown that although nurses were willing to serve in this manner, they experienced moderate to high burnout, anxiety, depression, fear and exhaustion.

M2 Macrophages are Major Mediators of Germline Risk of Endometriosis and Explain Pleiotropy with Comorbid Traits.

Endometriosis is a common gynecologic condition that causes chronic life-altering symptoms including pain, infertility, and elevated cancer risk. There is an urgent need for new non-hormonal targeted therapeutics to treat endometriosis, but until very recently, the cellular and molecular signatures of endometriotic lesions were undefined, severely hindering the development of clinical advances. Integrating inherited risk data from analyses of >450,000 individuals with ∼350,000 single cell transcriptomes from 21 patients, we uncover M2-macrophages as candidate drivers of disease susceptibility, and nominate IL1 signaling as a central hub impacted by germline genetic variation associated with endometriosis.

Genome wide association studies are enriched for interacting genes.

Background: With recent advances in single cell technology, high-throughput methods provide unique insight into disease mechanisms and more importantly, cell type origin. Here, we used multi-omics data to understand how genetic variants from genome-wide association studies influence development of disease. We show in principle how to use genetic algorithms with normal, matching pairs of single-nucleus RNA- and ATAC-seq, genome annotations, and protein-protein interaction data to describe the genes and cell types collectively and their contribution to increased risk.

v2: expanded variant analysis including indels and integrated evidence from transcription factor binding databases.

Motivation: scans genetic variants against position weight matrices of transcription factors (TFs) to determine the potential for the disruption of binding at the site of the variant. It leverages the Bioconductor suite of software packages and annotations to query a diverse array of genomes and motif databases. Initially developed to interrogate the effect of single-nucleotide variants on TF binding sites, in v2, we have updated the functionality.

: extended capability and database integration.

is a software tool that scans genetic variants against position weight matrices of transcription factors (TF) to determine the potential for the disruption of TF binding at the site of the variant. It leverages the Bioconductor suite of software packages and annotations to operate across a diverse array of genomes and motif databases. Initially developed to interrogate the effect of single nucleotide variants (common and rare SNVs) on potential TF binding sites, in v2, we have updated the functionality.

Nursing categories' perceptions of the practice environment and quality of care in North West Province: a cross-sectional survey design.

Background: There is a substantial amount of literature on the perception of the practice environment and quality of care as perceived by registered nurses and community services nurses in South Africa and worldwide, but there is little to no research that could be found regarding other categories of nurses, and how these perceptions differ between the different categories. Therefore, the aim of this study is to describe the different nursing categories' perceptions of the practice environment and quality of care and the association between the variables.

Methods: This study applied a cross-sectional survey design.

Nurse perceptions of practice environment, quality of care and patient safety across four hospital levels within the public health sector of South Africa.

Improving the practice environment, quality of care and patient safety are global health priorities. In South Africa, quality of care and patient safety are among the top goals of the National Department of Health; nevertheless, empirical data regarding the condition of the nursing practice environment, quality of care and patient safety in public hospitals is lacking.AimThis study examined nurses' perceptions of the practice environment, quality of care and patient safety across four hospital levels (central, tertiary, provincial and district) within the public health sector of South Africa.

Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.

To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value <5 × 10) and confirmed previously reported associations for 27 risk regions. Conditional analyses identified an additional 11 signals independent of the primary signal at six risk regions (p value <10).

Study protocol - assessing parkrun for walking rehabilitation for people living with, and beyond, cancer: acceptability, adherence, social support and physical function.

Introduction: Due to a variety of barriers, the majority of cancer survivors do not do enough physical activity to meet current recommendations. This study will assess the feasibility of participation in parkrun walk-run events as a novel mode of community rehabilitation exercise.

Methods: This protocol describes a single-arm intervention study with participants acting as their own controls.

Beyond Wrinkles: A Comprehensive Review of the Uses of Botulinum Toxin.

Background: Botulinum neurotoxin (BoNT) exhibits inhibitory effects on the neuromuscular junction, and its use is well established in cosmetic dermatology. Our review aims to analyze the evidence for its use in the treatment of various dermatological, neurological, gastroenterological, ophthalmological, otorhinolaryngological, dental, urological, gynecological, and cardiovascular disorders.

Methods: A systematic review of the literature was performed for studies published between 2012 and 2022 that discussed the therapeutic use of BoNT in human participants.

Symptomatic Common Carotid Artery Stenosis Managed With Carotid Endarterectomy.

Extracranial carotid artery disease is typical at the carotid bifurcation and internal carotid artery (ICA) and is rarely symptomatic from isolated common carotid artery (CCA) stenosis. We present the case of a 60-year-old female patient who presented with a transient ischemic attack (TIA) with significant stenosis of the ipsilateral CCA only, without any involvement of the ICA or bifurcation. This was treated with carotid endarterectomy (CEA) with desirable postoperative outcomes; at up to six months postoperative follow-up, this patient had no recurrence of symptoms.

The Diagnostic Workup, Screening, and Treatment Approaches for Patients with Delusional Infestation.

Delusional infestation (DI) is a psychiatric disorder defined by the fixed, false belief that one has been infested by an organism without evidence to support this. Patients may present with skin lesions and report abnormal cutaneous sensations. The diagnostic workup for patients presenting with delusional infestation is essential to ensuring accurate diagnosis in ruling out other explanations for symptoms and investigating potential secondary causes of DI.

Beyond Wrinkles: A Comprehensive Review of the Uses of Botulinum Toxin.

Background: Botulinum neurotoxin (BoNT) exhibits inhibitory effects on the neuromuscular junction, and its use is well established in cosmetic dermatology. Our review aims to analyze the evidence for its use in the treatment of various dermatological, neurological, gastroenterological, ophthalmological, otorhinolaryngological, dental, urological, gynecological, and cardiovascular disorders.

Methods: A systematic review of the literature was performed for studies published between 2012 and 2022 that discussed the therapeutic use of BoNT in human participants.

Satellite ligand effects on magnetic exchange in dimers. A structural, magnetic and theoretical investigation of CuLX (L = methylisothiazolinone and X = Cl, Br).

Halide-bridged polymers have gained significant interest due to their diverse properties and potential applications. Stacked CuLX dimers, where L is an organic ligand and X can be Cl or Br, are of interest because a chloride analogue where L = 2-pyridone, had previously been reported to exhibit bulk ferromagnetism, which augured great potentiality for this class of compounds. The synthesis, structural characterization, magnetic susceptibility measurements, and computational studies of two isostructural CuClMI (MI = methylisothiazolinone) and CuBrMI polymers of Cu(II), along with a related CuClPYR (PYR = 2-pyridone) is reported.

Sight the Mite: A Meta-Analysis on the Diagnosis of Scabies.

This meta-analysis was performed to assess the efficacy of the diagnostic tests for scabies infections that are currently in wide use. Scabies is most commonly diagnosed through clinical presentations; however, due to the wide array of symptoms, diagnosis is difficult. The most commonly used diagnostic test is skin scraping.

Racial Identity and Relevance in Teaching Clinical Skills and Diagnostic Medicine: A Small/Pilot Focus Session to Engage Medical Educators.

Background The relevance and importance of using racial and ethnic categories in medical education is an area requiring richer discussion and engagement among all health professions educators. Objectives There is a genuine need to identify opportunities for leveraging social and structural determinants of health to address health disparities within medical education. We designed a focus session led by a team of diverse clinical and basic science faculty to analyze how medical curricula can integrate racial/ethnic identity as a clinical indicator.

Diagnostic and therapeutic potential of RNASET2 in Crohn's disease: Disease-risk polymorphism modulates allelic-imbalance in expression and circulating protein levels and recombinant-RNASET2 attenuates pro-inflammatory cytokine secretion.

Ribonuclease T2 gene (RNASET2) variants are associated in genome wide association studies (GWAS) with risk for several autoimmune diseases, including Crohn's disease (CD). In T cells, a functional and biological relationship exists between TNFSF15-mediated enhancement of IFN-γ production, mucosal inflammation and RNASET2. Disease risk variants are associated with decreased mRNA expression and clinical characteristics of severe CD; however, functional classifications of variants and underlying molecular mechanisms contributing to pathogenesis remain largely unknown.

CD22-targeted CD28 bispecific antibody enhances antitumor efficacy of odronextamab in refractory diffuse large B cell lymphoma models.

Although many patients with diffuse large B cell lymphoma (DLBCL) may achieve a complete response to frontline chemoimmunotherapy, patients with relapsed/refractory disease typically have poor outcomes. Odronextamab, a CD20xCD3 bispecific antibody that provides "signal 1" through the activation of the T cell receptor/CD3 complex, has exhibited early, promising activity for patients with highly refractory DLBCL in phase 1 trials. However, not all patients achieve complete responses, and many relapse, thus representing a high unmet medical need.

Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.

Background: Known risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles in a large population cohort.

Methods: Single nucleotide polymorphism array data from 13 071 EOC cases and 17 306 controls of White European ancestry were used to identify CNVs associated with EOC risk using a rare admixture maximum likelihood test for gene burden and a by-probe ratio test.

Correction: Novel Presentation of Reticulate Acropigmentation of Kitamura With Bilateral Clinodactyly.

[This corrects the article DOI: 10.7759/cureus.26894.

DNA methylation and transcriptomic features are preserved throughout disease recurrence and chemoresistance in high grade serous ovarian cancers.

Background: Little is known about the role of global DNA methylation in recurrence and chemoresistance of high grade serous ovarian cancer (HGSOC).

Methods: We performed whole genome bisulfite sequencing and transcriptome sequencing in 62 primary and recurrent tumors from 28 patients with stage III/IV HGSOC, of which 11 patients carried germline, pathogenic BRCA1 and/or BRCA2 mutations.

Results: Landscapes of genome-wide methylation (on average 24.

Recurrent Peritonsillar Abscess in Post-tonsillectomy Patient.

Peritonsillar abscess (PTA) is a common deep tissue infection of the head and neck. In the literature, most cases demonstrate PTA following acute tonsillitis; however, less documented are cases arising in post-tonsillectomy patients. Here, we report a 45-year-old woman with a history of tonsillectomy 16 years prior, who presented to the emergency department with signs and symptoms consistent with PTA, including sore throat and the presence of a right-sided abscess in the posterolateral oropharynx with apparent pus.

The association between the practice environment and selected nurse educator outcomes in public nursing education institutions: A cross-sectional study.

Aim: The purpose of this study is to describe the association between the practice environment and nurse educator outcomes (burnout, engagement, incivility, job satisfaction and intention to leave) in public nursing education institutions in the Gauteng province of South Africa.

Background: The practice environment holds the most promise for recruiting and retaining a qualified and engaged nurse workforce; however, the association between the practice environment and nurse educator outcomes has been relatively unexplored.

Design: Cross-sectional design.