Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services.

Background: Genetic counselling for adolescents necessitates an approach distinct from that used with adults. Developing best practices is crucial, considering the growing number of disabled adolescents worldwide and increasing use of genomic testing early in life. We investigated perceptions of adolescents (10-19 years) who had been diagnosed with a genetic disorder in terms of how they describe receiving, understanding, and living with a genetic condition.

Putting control into parents' hands: Parent experiences with a genomic results e-booklet.

We evaluated the clinical use of a customizable, multi-language, Genomic Results Booklet (GRB)-a printable e-booklet co-designed with parents-to provide information and guidance to families post-genomic testing. The GRB provides individual genomic results, with implications and resources, all in family-friendly language. Participants were parents of children offered genomic testing in a pediatric neurology clinic.

Rift Valley fever seroprevalence and risk factors among human populations in Uganda's cattle corridor: a cross-sectional study.

Introduction: Rift Valley fever (RVF) is an epidemic-prone zoonotic disease whose distribution of exposure is poorly described in endemic communities. We investigated the seroprevalence and risk factors for RVF among humans in Uganda's cattle corridor.

Methods: This cross-sectional study used data and stored plasma specimens collected by the Uganda population-based HIV impact assessment (UPHIA) survey 2016/2017.

45th Annual David Smith Workshop on Malformations and Morphogenesis.

The 45th Annual David Smith Workshop on Malformations and Morphogenesis was held from August 21st-24th 2024 on the Campus of the University of British Columbia. The Workshop, which honors the legacy of Dr. David W.

T cell responses in repeated controlled human schistosome infection compared to natural exposure.

In Schistosoma-endemic regions a lack of natural sterilizing immunity means individuals are repeatedly infected, treated and reinfected. Due to difficulties in tracking natural infection, kinetics of host immune response during these reinfections have not been elucidated. Here, we use repeated (3x) controlled-human-Schistosoma mansoni infection (CHI) to study how antigen-specific T cells develop during reinfection (NCT05085470 study).

Effect of intermittent preventive treatment during pregnancy with sulfadoxine-pyrimethamine on maternal gestational weight gain in low-income and middle-income countries: a systematic review and individual participant data meta-analysis of randomised clinical trials.

Background: Studies have consistently demonstrated beneficial effects of intermittent preventive treatment during pregnancy (IPTp) with sulfadoxine-pyrimethamine (SP) on reducing malaria infection and improving birth outcomes among pregnant women in endemic areas. However, data on its impact on maternal gestational weight gain (GWG) are very limited. We aimed to conduct a two-stage meta-analysis of individual participant data to examine the effect of IPT with SP on GWG compared to other antimalarial regimens.

is an African-specific locus associated with 25-hydroxyvitamin D concentrations and cardiometabolic health.

Vitamin D deficiency is prevalent in Africa, but its genetic determinants are understudied. We report a genome-wide analysis of 25-hydroxyvitamin D (25(OH)D) concentrations in 3670 children from five countries across Africa with replication in four diaspora African ancestry populations (n=21,610). We identify a previously unreported locus at genome-wide significance in West African populations: (Oxysterol Binding Protein Like 11, lead variant, rs2979356, p=8.

Safety and efficacy of praziquantel 40 mg/kg versus 80 mg/kg in preschool-aged children with intestinal schistosomiasis in Uganda: a 2 × 2 factorial, double-blind, placebo-controlled, phase 2 randomised trial.

Background: Optimal dosing of praziquantel for schistosomiasis for children younger than 5 years is not established and some studies suggest this age group might need a higher dosing per kilogram. Our aim was to assess the safety and efficacy of a split dose of 80 mg/kg of praziquantel tablets given in a single day to preschool children versus the recommended single dose of 40 mg/kg for treatment of Schistosoma mansoni.

Methods: We did a 2 × 2 factorial design, placebo-controlled, phase 2 randomised trial in Uganda.

Partnership to Develop an Inter-Disciplinary Schistosomiasis Research Training Program in Uganda.

The WHO 2021-2030 roadmap for neglected tropical diseases (NTDs) and the 2022 Kigali Declaration urge academic research institutions to unite in combating NTDs, including schistosomiasis, and emphasize the importance of strategic partnerships to free more than 1 billion people who require interventions against NTDs. We conducted stakeholder meetings to understand the landscape of schistosomiasis research training in Uganda and the existing collaborations with research institutions in sub-Saharan Africa, Europe, the United Kingdom, and the United States. In focus group discussions (involving 33 individuals from four institutions), key challenges were summarized into four emerging themes: 1) limited physical infrastructure for schistosomiasis research and training, 2) a low critical mass of scientists with competencies in schistosomiasis research, 3) a limited scope of current schistosomiasis research, and 4) limited advocacy and community engagement for schistosomiasis control.

Evaluating parental satisfaction and empowerment with genetic testing in the Neonatal Intensive Care Unit (NICU).

Genetic disorders are highly represented in the neonatal intensive care unit (NICU). Genetic testing (in particular rapid genome-wide sequencing) has transformed the ability to diagnose and manage these infants. The NICU is a place of stress and overwhelm for parents and implementing genetic testing can pose additional challenges, including anxiety.

Parental perspectives on family-centered care in pediatric neurology: An explanatory sequential mixed-methods study.

Aim: To explore parents' experiences of family-centered care (FCC) in a pediatric neurology clinic.

Method: In this explanatory sequential mixed-methods study, parents of children with neurological conditions completed the Measure of Processes of Care (MPOC-20) and the Pediatric Quality of Life (PedsQL) surveys. Linear regression analysis was used to explore associations between MPOC, PedsQL scores, and demographic variables.

Helminth driven gut inflammation and microbial translocation associate with altered vaccine responses in rural Uganda.

Vaccine responses are sometimes impaired in rural, low-income settings. Helminth-associated gut barrier dysfunction and microbial translocation (MT) may be implicated. We used samples from a trial of praziquantel treatment-effects on vaccine responses in Schistosoma mansoni (Sm)-endemic Ugandan islands, measuring intestinal fatty acid-binding protein 2 (I-FABP2), lipopolysaccharide-binding protein, anti-endotoxin core antibodies (EndoCab), soluble CD14 (sCD14) in plasma, and faecal lipocalin-2, occult blood (FOB), and calprotectin (fCAL), and evaluating their associations with baseline helminth infection, praziquantel treatment, and responses to BCG, yellow fever, typhoid, HPV, and tetanus-diphtheria vaccines.

Effectiveness of COVID-19 vaccine against SARS-CoV-2 infection among symptomatic COVID-19 patients in Uganda.

Background: COVID-19 vaccines significantly reduce severe disease outcomes, but uncertainty remains about long-term protection. We investigated vaccine effectiveness (VE) against SARS-CoV-2 infection over extended periods in the World Health Organisation AFRO-MoVE network studies in Africa.

Methods: Participants with COVID-19-like symptoms were recruited between 2023 and 2024 for a test-negative case-control study conducted across 19-healthcare centres in Uganda.

COVID-19 vaccination status and associated factors among patients presenting with COVID-19-like symptoms in Uganda.

Introduction: The emergence of new SARS-CoV-2 variants threatens the effectiveness of global vaccination campaigns. This study examines the vaccination status and associated factors among patients presenting with COVID-19-like symptoms at 19 healthcare facilities in Uganda.

Materials And Methods: A cross-sectional analysis was conducted using data collected at health facilities to evaluate the effectiveness of COVID-19 vaccines in Uganda from March 2023 to March 2024.

Identification of training needs in schistosomiasis research to build capacity for schistosomiasis control in Uganda.

Background: Schistosomiasis is the leading cause of fatal upper gastrointestinal bleeding among adults in East Africa. The prevalence among school-aged children in villages along the Albert-Nile shoreline in North-Western Uganda is estimated at 85%. Efforts to control schistosomiasis in low- and-middle-income countries remain limited due to an incomplete understanding of the pathogenesis, disease manifestations, transmission mechanisms, preventive measures and interventions.

Building Community Resilience Through Trauma-Informed Solutions: Lessons Learned from a Social Accelerator in Rural North Carolina.

Adverse childhood experiences and intergenerational trauma are associated with a variety of negative health outcomes and are particularly prevalent among people of color and those living in rural communities. The social accelerator model offers a novel means of assisting organizations in scaling up their initiatives and increasing their impact. This study investigates the lessons learned from adapting the social accelerator model to address community-level trauma and build resilience in a rural setting.

Enterococcus and Eggerthella species are enriched in the gut microbiomes of COVID-19 cases in Uganda.

Background: Infection with the COVID-19-causing pathogen SARS-CoV-2 is associated with disruption in the human gut microbiome. The gut microbiome enables protection against diverse pathogens and exhibits dysbiosis during infectious and autoimmune disease. Studies based in the United States and China have found that severe COVID-19 cases have altered gut microbiome composition when compared to mild COVID-19 cases.

Empowerment in Adolescent Patients with a Disability/Chronic Condition: A Scoping Review.

Background/objectives: Empowerment has been associated with several positive outcomes in healthcare; however, there is limited insight on empowerment levels within the adolescent population of those with a chronic condition/disability. The aim of this scoping review was to identify gaps in the existing literature on empowerment levels within this population.

Methods: Five databases (MEDLINE [Ovid], EMBASE [Ovid], PsycINFO [Ebsco], CINHAL [Ebsco] and Web of Science [UBC]) and grey literature were searched.

The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review.

Purpose: The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic health care providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test.

Methods: We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process.

Emerging SARS-CoV-2 Variants in Uganda in the Era of COVID-19 Vaccination.

The emergence of SARS-CoV-2 variants has heightened concerns about vaccine efficacy, posing challenges in controlling the spread of COVID-19. As part of the COVID-19 Vaccine Effectiveness and Variants (COVVAR) study in Uganda, this study aimed to genotype and characterize SARS-CoV-2 variants in patients with COVID-19-like symptoms who tested positive on a real-time PCR. Amplicon deep sequencing was performed on 163 oropharyngeal/nasopharyngeal swabs collected from symptomatic patients.

Relationship between symptoms, sociodemographic factors, and general practice help-seeking in 10 904 adults aged 50 and over.

Symptoms are a common reason for contact with primary care. This study investigated associations between symptom-related, demographic, social, and economic factors on general practice (GP) help-seeking. Secondary analysis of responses to a 25-symptom questionnaire, from 10 904 adults aged ≥50 years reporting at least one symptom in the preceding year.

Evaluating family-centred care at BC Children's Hospital: Healthcare providers' perspectives.

Background: Family-centred care (FCC) emphasizes a partnership approach to care between healthcare providers (HCPs), patients, and families. FCC provides significant benefits to both children and families; however, challenges exist in implementing FCC into practice. This study aimed to explore HCPs' FCC behaviours in multidisciplinary specialty clinics at a tertiary pediatric health care center in Canada.

The Effect of Malaria on Responses to Unrelated Vaccines in Animals and Humans: A Systematic Review and Meta-Analysis.

Vaccine efficacy varies globally, often showing reduced immune responses in low- and middle-income countries, possibly due to the immunomodulatory effects of parasitic infections like malaria. This systematic review evaluates the impact of malaria on immune responses to unrelated vaccines in humans and animals. We systematically searched five databases-MEDLINE, Web of Science, Global Health, Scopus and Embase-up to 5th December 2023.

Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol.

Objective: The objectives of this review are to identify barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries; determine whether and how these differ among patient partners, other knowledge users, and researchers; and chart definitions of rare diseases and rare disease patient registries.

Introduction: Rare disease patient registries are vital to improving the understanding of the natural histories and predictors of outcomes of rare diseases, assessing interventions, and identifying potential participants for clinical trials. Currently, however, the functionality of rare disease patient registries is not fully optimized.

Schistosome and malaria exposure and urban-rural differences in vaccine responses in Uganda: a causal mediation analysis using data from three linked randomised controlled trials.

Background: Vaccine immunogenicity and effectiveness vary geographically. Chronic immunomodulating parasitic infections including schistosomes and malaria have been hypothesised to be mediators of geographical variations.

Methods: We compared vaccine-specific immune responses between three Ugandan settings (schistosome-endemic rural, malaria-endemic rural, and urban) and did causal mediation analysis to assess the role of Schistosoma mansoni and malaria exposure in observed differences.