Optimized methods for scRNA-seq and snRNA-seq of skeletal muscle stored in nucleic acid stabilizing preservative.

Single cell studies have transformed our understanding of cellular heterogeneity in disease but the need for fresh starting material can be an obstacle, especially in the context of international multicenter studies and archived tissue. We developed a protocol to obtain high-quality cells and nuclei from dissected human skeletal muscle archived in the preservative Allprotect® Tissue Reagent. After fluorescent imaging microscopy confirmed intact nuclei, we performed four protocol variations that compared sequencing metrics between cells and nuclei enriched by either filtering or flow cytometry sorting.

Molecular Detection and Characterization of spp. in Cattle in Nigeria.

Background: Haemonchosis is a major parasitic infestation in ruminant livestock, causing significant economic losses annually. The causative organisms are helminths of the genus spp. Detection of the causative agent is important for effective management and control of the disease.

Bi- and Monoallelic Variants and Chronic Kidney Disease in West Africans.

Background: Apolipoprotein L1 gene () variants are risk factors for chronic kidney disease (CKD) among Black Americans. Data are sparse on the genetic epidemiology of CKD and the clinical association of variants with CKD in West Africans, a major group in the Black population.

Methods: We conducted a case-control study involving participants from Ghana and Nigeria who had CKD stages 2 through 5, biopsy-proven glomerular disease, or no kidney disease.

A meta-analysis and polygenic score study identifies novel genetic markers for waist-hip ratio in African populations.

Objective: Understanding the genetic underpinnings of anthropometric traits in diverse populations is crucial for gaining insights into their biological mechanisms and potential implications for health.

Methods: We conducted a genome-wide association study, meta-analysis, and gene set analysis of waist-hip ratio (WHR), WHR adjusted for BMI (WHRadjBMI), waist circumference, BMI, and height using the African Collaborative Center for Microbiome and Genomics Research (ACCME) cohort (n = ~11,000) for discovery and polygenic score target analyses and the Africa America Diabetes Mellitus (AADM) study (n = ~5200) for replication and polygenic score validation. We generated and compared polygenic scores from European, African, Afro-Caribbean, and multiethnic ancestry populations.

Growth performance and meat quality of broiler chickens fed diet containing bird eye pepper of varying proportion and sieve size.

This study investigated the potency of bird eye pepper () of varying proportion and sieve size on growth performance and meat quality of broiler chickens. Two hundred and forty-six 2-wk-old broiler chicks were randomly allotted to six treatment groups (basal diet (B) inclusive × 2) in a 2 × 3 factorial arrangement each replicated four times (10 × 10 × 10 × 11) in a completely randomized design. Diets containing BEP of varying proportion (0, 150, and 300 g) and sieve size (0.

Re-telling the story of aminoglycoside ototoxicity: tales from sub-Saharan Africa.

Background: Aminoglycosides, such as Streptomycin, are cheap, potent antibiotics widely used Sub-Saharan Africa. However, aminoglycosides are the commonest cause of ototoxicity. The limited prospective epidemiological studies on aminoglycoside ototoxicity from Sub-Saharan Africa motivated this study to provide epidemiological information on Streptomycin-induced ototoxicity, identify risk factors and predictors of ototoxicity.

Exposure to golimumab during pregnancy: Results from the Company's global safety database.

Data on the use of golimumab (GLM) during pregnancy are limited. This study evaluated pregnancy outcomes in women treated with GLM during pregnancy. Cumulative data on GLM-exposed pregnancies from the Company's global safety database (GSD) are summarized.

Expansion of the multi-locus gene alignment approach to improve identification of the fungal species Alternaria alternata.

Alternaria alternata is part of a genus comprised of over 600 different species that occur all over the world and cause damage to humans, plants and thereby to the economy. Yet, even though some species are causing tremendous issues, the past years have shown that assigning newly found isolates to known species was rather inconsistent. Most identifications are usually done on the basis of spore morphology, chemotype and molecular markers.

Rare variants analyses suggest novel cleft genes in the African population.

Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been implicated in the missing heritability.

Lingering challenges in malaria elimination efforts in sub-Saharan Africa: Insights and potential solutions.

Introduction: Between 2000 and 2015, significant gains were recorded in reducing the global burden of malaria due to enhanced global collaboration and increased funding. However, progress has stagnated post-2015, and the COVID-19 pandemic seems to have reversed some of these gains, necessitating a critical reevaluation of interventions. This paper aims to analyze the setbacks and offer recommendations for advancement in malaria control and prevention in sub-Saharan Africa.

Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.

Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFC. Rare variants have been implicated in the missing heritability.

Untargeted metabolomic profiling reveals molecular signatures associated with type 2 diabetes in Nigerians.

Background: Type 2 diabetes (T2D) has reached epidemic proportions globally, including in Africa. However, molecular studies to understand the pathophysiology of T2D remain scarce outside Europe and North America. The aims of this study are to use an untargeted metabolomics approach to identify: (a) metabolites that are differentially expressed between individuals with and without T2D and (b) a metabolic signature associated with T2D in a population of Sub-Saharan Africa (SSA).

Machine learning approaches to evaluate infants' general movements in the writhing stage-a pilot study.

The goals of this study are to describe machine learning techniques employing computer-vision movement algorithms to automatically evaluate infants' general movements (GMs) in the writhing stage. This is a retrospective study of infants admitted 07/2019 to 11/2021 to a level IV neonatal intensive care unit (NICU). Infant GMs, classified by certified expert, were analyzed in two-steps (1) determination of anatomic key point location using a NICU-trained pose estimation model [accuracy determined using object key point similarity (OKS)]; (2) development of a preliminary movement model to distinguish normal versus cramped-synchronized (CS) GMs using cosine similarity and autocorrelation of major joints.

Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research.

Background: A fundamental ethical issue in African genomics research is how socio-cultural factors impact perspectives, acceptance, and utility of genomic information, especially in stigmatizing conditions like orofacial clefts (OFCs). Previous research has shown that gatekeepers (e.g.

Charcot Neuroarthropathy Is Associated With Higher Rates of Phantom Limb After Lower Extremity Amputation.

Background: The incidence of phantom limb pain in patients with Charcot neuroarthropathy who undergo major amputation is not well described. The purpose of this study was to determine whether patients with Charcot neuroarthropathy and diabetes who underwent either a below-knee amputation (BKA) or above-knee amputation (AKA) had an increased rate of phantom limb pain compared with those with a diagnosis of diabetes alone.

Methods: Using international classification of disease (ICD) and common procedural terminology (CPT) codes, the TriNetX research database identified 10 239 patients who underwent BKA and 6122 who underwent AKA between 2012 and 2022.

ASYMPTOMATIC BACTERIURIA AS A PREDICTOR OF PRE-ECLAMPSIA: A CASECONTROLLED STUDY.

Background: Pre-eclampsia, an important cause of maternal and perinatal morbidity and mortality world-wide has been linked to subclinical infections, with maternal infection and inflammation postulated in its aetio-pathogenesis including asymptomatic bacteriuria which is common in pregnancy. The Obejctive of the study is to determine the relationship of asymptomatic bacteriuria as a risk factor for pre-eclampsia.

Methodology: A hospital-based case-control study among 28 pre-eclamptic pregnant women (cases) and 56 healthy pregnant women (controls) at gestational age of at least 28 weeks at the University College Hospital, Ibadan, between January 2019 and August 2019.

Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa.

Background: Inadequate knowledge among health care providers (HCPs) and parents of affected children limits the understanding and utility of secondary genetic findings (SFs) in under-represented populations in genomics research. SFs arise from deep DNA sequencing done for research or diagnostic purposes and may burden patients and their families despite their potential health importance. This study aims to evaluate the perspective of both groups regarding SFs and their choices in the return of results from genetic testing in the context of orofacial clefts.

Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections.

Genetic variants that underlie susceptibility to cervical high-risk human papillomavirus (hrHPV) infections are largely unknown. We conducted discovery genome-wide association studies (GWAS), replication, meta-analysis and colocalization, generated polygenic risk scores (PRS) and examined the association of classical HLA alleles and cervical hrHPV infections in a cohort of over 10,000 women. We identified genome-wide significant variants for prevalent hrHPV around LDB2 and for persistent hrHPV near TPTE2, SMAD2, and CDH12, which code for proteins that are significantly expressed in the human endocervix.