Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations.

The prevalence and nature of somatic copy number alterations (CNAs) in breast epithelium and their role in tumor initiation and evolution remain poorly understood. Using single-cell DNA sequencing (49,238 cells) of epithelium from BRCA1 and BRCA2 carriers or wild-type individuals, we identified recurrent CNAs (for example, 1q-gain and 7q, 10q, 16q and 22q-loss) that are present in a rare population of cells across almost all samples (n = 28). In BRCA1/BRCA2 carriers, these occur before loss of heterozygosity (LOH) of wild-type alleles.

Metatranscriptomic analysis of common mosquito vector species in the Canadian Prairies.

Unlabelled: The microbiome plays vital roles in the life history of mosquitoes, including their development, immunity, longevity, and vector competence. Recent advances in sequencing technologies have allowed for detailed exploration into the diverse microorganisms harbored by these medically important insects. Although these meta-studies have cataloged the microbiomes of mosquitoes in several continents, much of the information currently available for North America is limited to the state of California.

Development and evaluation of a clinical guideline for a paediatric telemedicine service in a low-resource setting.

Objective: To develop and evaluate a guideline for a paediatric telemedicine and medication delivery service (TMDS).

Methods: A clinical guideline for paediatric telemedicine was derived from the World Health (WHO) Organization . The guideline was deployed at a TMDS in Haiti and evaluated through a prospective cohort study; children ≤10 years were enrolled.

Statistical distribution of micro and macro pores in acrylic bone cement- effect of amount of antibiotic content.

Aseptic loosening due to mechanical failure of bone cement is considered to be a leading cause of revision of joint replacement systems. Detailed quantified information on the number, size and distribution pattern of pores can help to obtain a deeper understanding of the bone cement's fatigue behavior. The objective of this study was to provide statistical descriptions for the pore distribution characteristics of laboratory bone cement specimens with different amounts of antibiotic contents.

Population-Based Serologic Survey of Vibrio cholerae Antibody Titers before Cholera Outbreak, Haiti, 2022.

A Vibrio cholerae O1 outbreak emerged in Haiti in October 2022 after years of cholera absence. In samples from a 2021 serosurvey, we found lower circulating antibodies against V. cholerae lipopolysaccharide in children <5 years of age and no vibriocidal antibodies, suggesting high susceptibility to cholera, especially among young children.

The influence of weather on the population dynamics of common mosquito vector species in the Canadian Prairies.

Background: Mosquito seasonal activity is largely driven by weather conditions, most notably temperature, precipitation, and relative humidity. The extent by which these weather variables influence activity is intertwined with the animal's biology and may differ by species. For mosquito vectors, changes in weather can also alter host-pathogen interactions thereby increasing or decreasing the burden of disease.

Black queen cell virus detected in Canadian mosquitoes.

Black queen cell virus (BQCV) is a ubiquitous honeybee virus and a significant pathogen to queen bee (Apis mellifera) larvae. However, many aspects of the virus remain poorly understood, including the transmission dynamics. In this study, we used next-generation sequencing to identify BQCV in Aedes vexans (n = 4,000) collected in 2019 and 2020 from Manitoba, Canada.

A population-based serological survey of antibody titers in Ouest Department, Haiti in the year prior to the 2022 cholera outbreak.

After three years with no confirmed cholera cases in Haiti, an outbreak of O1 emerged in October 2022. Levels of pre-existing antibodies provide an estimate of prior immunologic exposure, reveal potentially relevant immune responses, and set a baseline for future serosurveillance. We analyzed dried blood spots collected in 2021 from a population-weighted representative cross-sectional serosurvey in two communes in the Ouest Department of Haiti.

Implementation of a Pediatric Telemedicine and Medication Delivery Service in a Resource-limited Setting: A Pilot Study for Clinical Safety and Feasibility.

Objective: Determine the clinical safety and feasibility of implementing a telemedicine and medication delivery service (TMDS) to address gaps in nighttime access to health care for children in low-resource settings.

Study Design: We implemented a TMDS called 'MotoMeds' in Haiti as a prospective cohort study. A parent/guardian of a sick child ≤ 10 years contacted the call center (6 PM-5 AM).

A Nighttime Telemedicine and Medication Delivery Service to Avert Pediatric Emergencies in Haiti: An Exploratory Cost-Effectiveness Analysis.

We sought to compare the costs of a nighttime pediatric telemedicine and medication delivery service per disability-adjusted life year (DALY) averted to the costs of current hospital emergency care per DALY averted from a societal perspective. We studied a nighttime pediatric telemedicine and medication delivery service and hospital emergency care in a semi-urban and rural region of Haiti. Costs of the two services were enumerated to represent the financial investments of both providers and patients.

Opportunities to catalyse improved healthcare access in pluralistic systems: a cross-sectional study in Haiti.

Objective: To identify determinants of intended versus actual care-seeking behaviours in a pluralistic healthcare system that is reliant on both conventional and non-conventional providers and discover opportunities to catalyse improved healthcare access.

Design: Cross-sectional study.

Setting And Participants: In Haiti 568 households (incorporating 2900 members) with children less than 5 years of age were randomly sampled geographically with stratifications for population density.

A genetic screen in Drosophila uncovers the multifaceted properties of the NUP98-HOXA9 oncogene.

Acute myeloid leukemia (AML) underlies the uncontrolled accumulation of immature myeloid blasts. Several cytogenetic abnormalities have been associated with AML. Among these is the NUP98-HOXA9 (NA9) translocation that fuses the Phe-Gly repeats of nucleoporin NUP98 to the homeodomain of the transcription factor HOXA9.

Influence of Porosity on Fracture Toughness and Fracture Behavior of Antibiotic-Loaded PMMA Bone Cement.

Aseptic loosening is the most common reason for the long-term revision of cemented arthroplasties with fracture of the cement being a postulated cause or contributing factor. In our previous studies we showed that adding an antibiotic to a polymethylmethacrylate (PMMA) bone cement led to detrimental effects on various mechanical properties of the cement such as bending strength, compressive strength and fracture toughness (KIC). This finding implied that the mechanical failure of antibiotic-loaded PMMA bone cement was influenced by its pore volume fraction.

A cardiovascular disease risk factor in children with congenital heart disease: unmasking elevated waist circumference - a CHAMPS* study *CHAMPS: Children's Healthy-Heart Activity Monitoring Program in Saskatchewan.

Background: Children with congenital heart disease (CHD) have an elevated risk of future cardiovascular disease but the underlying mechanisms are unclear. Abdominal obesity (measured as waist circumference) is a risk factor for adult onset of cardiovascular diseases and is correlated with low physical activity levels, commonly found in children with congenital heart disease. Elevated waist circumference may be a mechanism by which cardiovascular disease risk is elevated in children with CHD.

Monoubiquitination of ASXLs controls the deubiquitinase activity of the tumor suppressor BAP1.

The tumor suppressor and deubiquitinase (DUB) BAP1 and its Drosophila ortholog Calypso assemble DUB complexes with the transcription regulators Additional sex combs-like (ASXL1, ASXL2, ASXL3) and Asx respectively. ASXLs and Asx use their DEUBiquitinase ADaptor (DEUBAD) domain to stimulate BAP1/Calypso DUB activity. Here we report that monoubiquitination of the DEUBAD is a general feature of ASXLs and Asx.

Physical activity modulates arterial stiffness in children with congenital heart disease: A CHAMPS cohort study.

Unlabelled: Children with congenital heart disease are at risk for developing increased arterial stiffness and this may be modulated by physical activity.

Objective: To compare arterial stiffness in high- and low-physically active children with congenital heart disease and healthy age- and sex-matched controls.

Patients: Seventeen children with congenital heart disease (12 ± 2 years; females = 9), grouped by low- and high-physical activity levels from accelerometry step count values, and 20 matched controls (11 ± 3 years; females = 9) were studied.

Teen pregnancy in Inuit communities - gaps still needed to be filled.

Teen pregnancy is depicted around the world as an important cause of health disparities both for the child and the mother. Accordingly, much effort has been invested in its prevention and led to its decline in the northern hemisphere since the mid-1990s. Despite that, high rates are still observed in the circumpolar regions.

Human NUP98-HOXA9 promotes hyperplastic growth of hematopoietic tissues in Drosophila.

Acute myeloid leukemia (AML) is a complex malignancy with poor prognosis. Several genetic lesions can lead to the disease. One of these corresponds to the NUP98-HOXA9 (NA9) translocation that fuses sequences encoding the N-terminal part of NUP98 to those encoding the DNA-binding domain of HOXA9.

Rates of glaucomatous visual field change after trabeculectomy.

Background: Trabeculectomy is frequently performed in patients with glaucoma who are deteriorating, although its effects on rates of visual field (VF) progression are not fully understood. We studied the rate of VF progression post trabeculectomy comparing with medically treated patients matched for VF loss.

Methods: Medical records of patients who underwent trabeculectomy alone or combined with cataract extraction were reviewed.

How Accurate Are Home Blood Pressure Devices in Use? A Cross-Sectional Study.

Background: Out of office blood pressure measurements, using either home monitors or 24 hour ambulatory monitoring, is widely recommended for management of hypertension. Though validation protocols, meant to be used by manufacturers, exist for blood pressure monitors, there is scant data in the literature about the accuracy of home blood pressure monitors in actual clinical practice. We performed a chart review in the blood pressure assessment clinic at a tertiary care centre.

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.

Background: Autoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder due to mutations in the AIRE gene.

Aim: To report the ocular features and characterise the retinal phenotype in molecularly confirmed APS1.

Method: This retrospective case series reviewed five molecularly confirmed cases with APS1 known to have ocular involvement (age range: 19 months-44 years; mean follow-up of 8 years).

Technology and medication errors: impact in nursing homes.

Purpose: The purpose of this paper is to study a medication distribution technology's (MDT) impact on medication errors reported in public nursing homes in Québec Province.

Design/methodology/approach: The work was carried out in six nursing homes (800 patients). Medication error data were collected from nursing staff through a voluntary reporting process before and after MDT was implemented.

Risk Factors for a Severe Bleb Leak Following Trabeculectomy: A Retrospective Case-Control Study.

Purpose: To describe the population at risk of having a severe bleb leak needing a surgical repair in the operating room and to study risk factors associated with severe bleb leak.

Patients And Methods: In this case-control study, 17 cases were enrolled and paired with 51 controls. We studied all patients having a surgical revision in our center for a severe bleb leak between January 1 and December 31, 2008.