Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.

Purpose: Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings. We created a patient-facing digital health application to support genomic testing.

Chemical Resistance of Modified Wood Veneers in Sustainable Load Bearing Elements.

In the pursuit of sustainable engineering solutions, material selection is increasingly directed toward resources that offer functional efficacy, economic feasibility, and minimal environmental impact. To replace environmentally damaging materials like aluminum with more sustainable alternatives like wood-based materials, it is essential to improve the durability and longevity of wood. This study explores the potential suitability of modified veneers as an outer protective layer for unmodified wooden load-bearing elements, providing a cost-effective and resource-efficient alternative to bulk modification.

A conditional multi-label model to improve prediction of a rare outcome: An illustration predicting autism diagnosis.

Objective: This study aimed to develop a novel approach using routinely collected electronic health records (EHRs) data to improve the prediction of a rare event. We illustrated this using an example of improving early prediction of an autism diagnosis, given its low prevalence, by leveraging correlations between autism and other neurodevelopmental conditions (NDCs).

Methods: To achieve this, we introduced a conditional multi-label model by merging conditional learning and multi-label methodologies.

Fusion of cellulose microspheres with pulp fibers: Creating an unconventional type of paper.

Cellulose microspheres (CMS) are a type of spherical regenerated cellulose particles with versatile properties which have been used as carrier materials in medical and technical applications. The integration of CMS into paper products opens up novel application scenarios for paper products in a wide range of fields. However, the incorporation of CMS carriers into paper products is challenging and hitherto no reports do exist in literature.

The effects of telerehabilitation in adults with complex biventricular congenital heart conditions: protocol for a multi-centre, randomised controlled trial-CH-FIT.

Background: Accumulated evidence suggests that exercise training exerts beneficial effects on people with congenital heart conditions. These findings are predominantly derived from small, single-centre exercise trials conducted in outpatient rehabilitation facilities. In recent years, the delivery of exercise interventions remotely has increased through digital communications technology (telerehabilitation).

Patients' and providers' perspectives on the decision to undergo non-urgent egg freezing: a needs assessment.

Background: Previous research has demonstrated that patients have difficulty with the decision to undergo non-urgent egg freezing (EF). This study aimed to investigate the decisional difficulties and possible decisional support mechanisms for patients considering EF, and for their providers.

Methods: This qualitative study involved a needs assessment via individual interviews.

The effects of water-based circuit exercise training on vascular function in people with coronary heart disease.

Impaired endothelial function in people with coronary heart disease (CHD) is associated with increased mortality. Water immersion can increase peripheral artery shear stress which may provide an additional stimulus to the endothelium during exercise. This study compared the effects of water-based circuit exercise training (WEX) and gym-based circuit exercise training (GEX) on vascular function in people with stable CHD.

Challenges of aortic valve tissue culture - maintenance of viability and extracellular matrix in the pulsatile dynamic microphysiological system.

Background: Calcific aortic valve disease (CAVD) causes an increasing health burden in the 21 century due to aging population. The complex pathophysiology remains to be understood to develop novel prevention and treatment strategies. Microphysiological systems (MPSs), also known as organ-on-chip or lab-on-a-chip systems, proved promising in bridging in vitro and in vivo approaches by applying integer AV tissue and modelling biomechanical microenvironment.

Analysis of Time to Treatment and Survival Among Adults Younger Than 50 Years of Age With Colorectal Cancer in Canada.

Importance: Colorectal cancer (CRC) is uncommon in adults younger than 50 years of age, so this population may experience delays to treatment that contribute to advanced stage and poor survival.

Objective: To investigate whether there is an association between time from presentation to treatment and survival in younger adults with CRC.

Design, Setting, And Participants: This retrospective cohort study used linked population-based data in Ontario, Canada.

How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey.

Purpose: Genomic sequencing can generate complex results, including variants of uncertain significance (VUS). In general, VUS should not inform clinical decision-making. This study aimed to assess the public's expected management of VUS.

Comparing Time to Diagnosis and Treatment Between Younger and Older Adults With Colorectal Cancer: A Population-Based Study.

Background & Aims: Younger adults (aged <50 years) with colorectal cancer (CRC) may have prolonged delays to diagnosis and treatment that are associated with adverse outcomes. We compared delay intervals by age for patients with CRC in a large population.

Methods: This was a population-based study of adults diagnosed with CRC in Ontario, Canada, from 2003 to 2018.

Patients' and providers' perspectives on non-urgent egg freezing decision-making: a thematic analysis.

Background: The decision to undergo non-urgent egg freezing (EF) is complex for patients and providers supporting them. Though prior studies have explored patient perspectives, no study has also included the separate perspectives of providers.

Methods: This qualitative study involved semi-structured individual interviews exploring the decision to undergo EF.

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of mutations.

Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a highly heritable facial disorder. To date, systematic investigations of the contribution of rare variants in non-coding regions to nsCL/P etiology are sparse. Here, we re-analyzed available whole-genome sequence (WGS) data from 211 European case-parent trios with nsCL/P and identified 13,522 mutations (DNMs) in nsCL/P cases, 13,055 of which mapped to non-coding regions.

Providers' perspectives on the reproductive decision-making of BRCA-positive women.

Background: Reproductive decision-making is difficult for BRCA-positive women. Our objective was to assess the complexities of decision-making and identify decisional supports for patients and providers when discussing reproductive options prior to risk-reducing salpingo-oophorectomy (RRSO).

Methods: This study was of qualitive design, using data collection via semi-structured interviews conducted from November 2018 to October 2020.

Clinical Delays and Comparative Outcomes in Younger and Older Adults with Colorectal Cancer: A Systematic Review.

Outcome disparities between adults <50 with colorectal cancer (CRC) and older adults may be explained by clinical delays. This study synthesized the literature comparing delays and outcomes between younger and older adults with CRC. Databases were searched until December 2021.

Measurement of clinical delay intervals among younger adults with colorectal cancer using health administrative data: a population-based analysis.

Background: Clinical delays may be important contributors to outcomes among younger adults (<50 years) with colorectal cancer (CRC). We aimed to describe delay intervals for younger adults with CRC using health administrative data to understand drivers of delay in this population.

Methods: This was a population-based study of adults <50 diagnosed with CRC in Ontario, Canada from 2003 to 2018.

High Risk Breast Cancer Screening is a Double Edged Sword: A Qualitative Study of Patient Perspectives on the Ontario High Risk Breast Cancer Screening Program.

Background: MRI-based breast cancer screening for high-risk women has been associated with false positives. This study explored the benefits and drawbacks of MRI-based screening using in-depth patient interviews.

Methods: This was a qualitative study of interviews with women participating in the High Risk Ontario Breast Screening Program.

Time to diagnosis and treatment in younger adults with colorectal cancer: A systematic review.

Background: The incidence of colorectal cancer is rising in adults <50 years of age. As a primarily unscreened population, they may have clinically important delays to diagnosis and treatment. This study aimed to review the literature on delay intervals in patients <50 years with colorectal cancer (CRC), and explore associations between longer intervals and outcomes.

Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes.

Angioedema is a relatively rare but potentially life-threatening adverse reaction to angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs). As with hereditary forms of angioedema (HAE), this adverse reaction is mediated by bradykinin. Research suggests that ACEi/ARB-induced angioedema has a multifactorial etiology.

Multiparametric characterization of red blood cell physiology after hypotonic dialysis based drug encapsulation process.

Red blood cells (RBCs) can act as carriers for therapeutic agents and can substantially improve the safety, pharmacokinetics, and pharmacodynamics of many drugs. Maintaining RBCs integrity and lifespan is important for the efficacy of RBCs as drug carrier. We investigated the impact of drug encapsulation by hypotonic dialysis on RBCs physiology and integrity.

The Potential Role of SP-G as Surface Tension Regulator in Tear Film: From Molecular Simulations to Experimental Observations.

The ocular surface is in constant interaction with the environment and with numerous pathogens. Therefore, complex mechanisms such as a stable tear film and local immune defense mechanisms are required to protect the eye. This study describes the detection, characterization, and putative role of surfactant protein G (SP-G/SFTA2) with respect to wound healing and surface activity.