Insulin therapy adherence and its associated factors among diabetic patients in a Ghanaian primary care hospital.

Background: Diabetes mellitus (DM) is a global health problem. Adherence to intensive insulin therapy is necessary to achieve better glycemic control in types 1 and 2 DM. This study aimed to evaluate the extent of adherence to insulin therapy, its predictors and to identify barriers to its adherence.

Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome.

Split-hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report a patient born to unrelated parents who was found to be a compound heterozygote for missense variants in WNT10B: c.

Impact of Small-Quantity Lipid-Based Nutrient Supplements on Pubertal Status of 9-13-Year Olds: A Follow-Up Study of the iLiNS-DYAD-Ghana Trial.

Background: Early and delayed puberty are both associated with adverse health and psychosocial outcomes.

Objectives: We assessed the impact of provision of small-quantity lipid-based nutrient supplement (SQ-LNS) to mothers during pregnancy and 6 mo postpartum and to their children aged 6-18 mo, on pubertal status.

Methods: This study was a follow-up to a partially double-blind randomized controlled trial.

Assessing microplastics contamination and characteristics in organic soil amendments in the Greater Accra Metropolitan Area of Ghana.

The study examines the increasing use of organic soil amendments (OSA) due to declining soil fertility and the high cost of synthetic fertilizers, alongside growing concerns about microplastics (MPs) accumulating in soil, which negatively impact soil, crop, and food quality. This research assessed the presence and characteristics of microplastics in Municipal Solid Waste Composts (MSWC) and dry sewage sludge (DSS) within the Greater Accra Metropolitan Area (GAMA) of Ghana. The study analyzed two sources of MSWC (MSWC 1 and MSWC 2) and two sources of DSS (Sludge 1 and Sludge 2), with five samples each, for microplastic concentrations.

Determinants of glycemic control among persons living with type 2 diabetes mellitus attending a district hospital in Ghana.

Background: Diabetes mellitus is a growing public health emergency with prevalence in sub-Sahara Africa expected to experience the highest increase by 2045. Glycemic control is central to diabetes management, but it is influenced by various factors. This study determines the level of glycemic control and the associated individual factors among type 2 diabetes mellitus (T2DM) patients.

Chem4Energy: a consortium of the Royal Society Africa Capacity-Building Initiative.

The Africa Capacity-Building Initiative is a Royal Society programme funded by the former UK Department for International Development to develop collaborative research between scientists in sub-Saharan Africa and the UK. Initially, four institutions were involved in the Chem4Energy consortium: Cardiff University in the UK and three African partners, the Kwame Nkrumah University of Science and Technology, Ghana, the University of Namibia and the University of Botswana, soon also including the Botswana International University of Science and Technology. The Chem4Energy research programme focused on 'New materials for a sustainable energy future: linking computation with experiment', aiming to deploy the synergy between state-of-the-art computational and experimental techniques to design and optimize new catalysts and semiconductor materials for renewable energy applications, based on materials that are abundant and readily available in African countries.

Assessing Children's Autonomic Nervous System Activity During Structured Tasks: A Feasibility and Reliability Study in Ghana.

The significance of physiological regulation in relation to behavioral and emotional regulation is well documented, but primarily in economically advantaged contexts. Few studies have been conducted in low- and middle-income countries. We investigated the feasibility and reliability of measuring autonomic nervous system (ANS) activity and behavior during challenge tasks in 30 children aged 8-10 years in Ghana during two visits, 1 week apart.

Expanding options for HIV testing: A process evaluation of a community-led HIV self-testing intervention among men who have sex with men in Kenya.

Background: Men who have sex with men (MSM) in Kenya continue to face barriers to HIV testing, which leads to delays in HIV prevention and care. An HIV self-testing (HIVST) intervention was implemented in three Kenyan counties to increase coverage and frequency of HIV testing among MSM communities with high HIV prevalence. The evaluation study examined how HIVST can increase testing among MSM who are unaware of their status by increasing coverage, frequency, and early uptake of testing and support linkages to prevention and treatment.

Assessing petroleum contamination in parts of the Niger Delta based on a sub-catchment delineated field assessment.

The Niger Delta in Nigeria is a complex and heavily contaminated area with over 150,000 interconnected contaminated sites. This intricate issue is compounded by the region's strong hydrological processes and high-energy environment, necessitating a science-based approach for effective contamination assessment and management. This study introduces the concept of sub-catchment contamination assessment and management, providing an overarching perspective rather than addressing each site individually.

REEV: review, evaluate and explain variants.

In the era of high throughput sequencing, special software is required for the clinical evaluation of genetic variants. We developed REEV (Review, Evaluate and Explain Variants), a user-friendly platform for clinicians and researchers in the field of rare disease genetics. Supporting data was aggregated from public data sources.

RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.

Pathogenic variants in TRIO, encoding the guanine nucleotide exchange factor, are associated with two distinct neurodevelopmental delay phenotypes: gain-of-function missense mutations within the spectrin repeats are causative for a severe developmental delay with macrocephaly (MIM: 618825), whereas loss-of-function missense variants in the GEF1 domain and truncating variants throughout the gene lead to a milder developmental delay and microcephaly (MIM: 617061). In three affected family members with mild intellectual disability/NDD and microcephaly, we detected a novel heterozygous TRIO variant at the last coding base of exon 31 (NM_007118.4:c.

Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.

Background: While characteristic facial features provide important clues for finding the correct diagnosis in genetic syndromes, valid assessment can be challenging. The next-generation phenotyping algorithm DeepGestalt analyzes patient images and provides syndrome suggestions. GestaltMatcher matches patient images with similar facial features.

Sustained effects of small-quantity lipid-based nutrient supplements provided during the first 1000 days on child growth at 9-11 y in a randomized controlled trial in Ghana.

Background: There is limited research on whether nutritional supplementation in the first 1000 d affects long-term child outcomes. We previously demonstrated that pre- and postnatal small-quantity lipid-based nutrient supplements (SQ-LNS) increased birth weight and child length at 18 mo of age in Ghana.

Objectives: We aimed to investigate the effect of pre- and postnatal SQ-LNS on child growth and blood pressure at 9-11 y.

STIGMA: Single-cell tissue-specific gene prioritization using machine learning.

Clinical exome and genome sequencing have revolutionized the understanding of human disease genetics. Yet many genes remain functionally uncharacterized, complicating the establishment of causal disease links for genetic variants. While several scoring methods have been devised to prioritize these candidate genes, these methods fall short of capturing the expression heterogeneity across cell subpopulations within tissues.

Tree size diversity is the major driver of aboveground carbon storage in dryland agroforestry parklands.

Despite the importance of agroforestry parkland systems for ecosystem and livelihood benefits, evidence on determinants of carbon storage in parklands remains scarce. Here, we assessed the direct and indirect influence of human management (selective harvesting of trees), abiotic factors (climate, topography, and soil) and multiple attributes of species diversity (taxonomic, functional, and structural) on aboveground carbon (AGC) stocks in 51 parklands in drylands of Benin. We used linear mixed-effects regressions and structural equation modeling to test the relative effects of these predictors on AGC stocks.

The influence of nutrition knowledge, attitude, practices, and dietary diversity on obesity among market women in the Cape Coast Metropolis, Ghana: A cross-sectional study.

Background And Aims: Obesity and overweight are major public health threat affecting many people globally. This study aimed to examine the role of nutrition knowledge (NK), attitude, practices, and dietary diversity (DD) on the prevalence of obesity among market women in Cape Coast, Ghana.

Methods: This cross-sectional study was conducted at Abura and Kotokuraba markets in the Cape Coast Metropolis of Ghana.

Whole genome sequencing in families with oligodontia.

Background/objectives: Tooth agenesis (TA) is among the most common malformations in humans. Although several causative mutations have been described, the genetic cause often remains elusive. Here, we test whether whole genome sequencing (WGS) could bridge this diagnostic gap.

Profiles in Wisdom: A Survey of Leading Psychiatrists to Inform the Diversity of the Future Psychiatric Workforce.

Long-standing challenges facing the mental health system require more effective strategies to furnish a workforce whose diversity matches an increasingly diverse population. Current and former system leaders can offer expert guidance informed by their experiences and perspectives. Their professional journeys to leadership in this area provide context and unique insight into issues of justice, including workforce diversity, equity, and inclusion in psychiatry.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP), which manifests as myopathy, bone disease, dementia, and/or motor neuron disease. Through GeneMatcher, we identified 13 unrelated individuals who harbor heterozygous VCP variants (12 de novo and 1 inherited) associated with a childhood-onset disorder characterized by developmental delay, intellectual disability, hypotonia, and macrocephaly.