Genomic Medicine in the Developing World: Cancer Spectrum, Cumulative Risk and Survival Outcomes for Lynch Syndrome Variant Heterozygotes with Germline Pathogenic Variants in the and Genes.

: Although genetic testing has improved our ability to diagnose Lynch syndrome (LS), there is still limited information on the extent of variations in the clinical and genetic landscape among LS variant heterozygotes (LSVH) in Africa. We sought to investigate the cancer spectrum, cumulative risk, and survival outcomes of LSVH with pathogenic/likely pathogenic variants (P/LPVs) in the and genes using a LS registry in South Africa over the last 30 years. : A retrospective study was conducted to retrieve demographic, clinical, and genetic data of all LSVH with P/LPVs in the and genes from our LS registry.

Assessment of an eye-tracking tool to discriminate between concussed and not concussed professional male rugby players: a cohort study.

Objectives: Concussion is a common injury in rugby union ('rugby') and yet its diagnosis is reliant on clinical judgment. Oculomotor testing could provide an objective measure to assist with concussion diagnosis. NeuroFlex® evaluates oculomotor function using a virtual-reality headset.

Family Social Support Mediates the Relationship Between the COVID-19 Pandemic and Psychosocial well-being in a Cohort of Young South Africans Newly Diagnosed with HIV.

Poor psychosocial well-being, including depression, anxiety, low self-esteem, and high anticipated stigma, complicates young South Africans' engagement with HIV care. During the COVID-19 pandemic, the psychosocial well-being of young South Africans with HIV may have been impacted by changing levels of social support. This analysis sought to examine whether social support mediates the relationship between the pandemic and psychosocial well-being in young South Africans with HIV.

Different Surgical Approaches to the Treatment of Cleft Palate Fistulae as Perceived by Cleft Surgeons.

Objective: Palatal fistulas after palatoplasty could pose difficulties for both patients and surgeons. Numerous surgical approaches are available to treat palatal fistulas. In this manuscript, we investigate surgical treatment options for palatal fistula repair looking at the different anatomical locations, and we create a summary of surgical approaches to facilitate the decision-making process for palatal fistulae repair.

Time to level the playing field between men and women - Given similar injury incidence: A two-season analysis of match injuries in elite men and women's (Super League) rugby league.

Objectives: To compare match injury incidence, severity and burden in men's and women's elite rugby league.

Design: A prospective cohort epidemiological study.

Methods: Time loss match injury data were collected from all men's (11,301 exposure hours) and women's (5,244 exposure hours) Super League clubs.

Intensity Modulated Therapy for Patients With Breast Cancer. Practical Guidelines and Tips for an Effective Treatment Planning Strategy.

Purpose: Practical guidelines and tips for effective and robust radiation therapy treatment planning for patients with breast cancer are addressed for fixed-field intensity modulated radiation therapy (IMRT) or volumetric modulated arc therapy (VMAT) techniques. The concepts described here are general and valid on all treatment planning systems. However, some details shown here have been applied to the Varian platforms used at the authors' institutions.

Human Leukocyte Antigen-Allelic Variations May Influence the Age at Cancer Diagnosis in Lynch Syndrome.

Lynch syndrome (LS) is an inherited cancer predisposition disorder associated with an elevated risk of developing various solid cancers, but mostly colorectal cancer (CRC). Despite having the same germline pathogenic variant (PV) in one of the mis-match repair genes or the gene, Lynch syndrome variant heterozygotes (LSVH) exhibit a remarkable phenotypic variability in the risk of developing cancer. The role of human leukocyte antigen (HLA) in modifying cancer development risk prompted our hypothesis into whether HLA variations act as potential genetic modifiers influencing the age at cancer diagnosis in LSVH.

Implementation research: a protocol for two three-arm pragmatic randomised controlled trials on continuous glucose monitoring devices in people with type 1 diabetes in South Africa and Kenya.

Background: Self-monitoring of glucose is an essential component of type 1 diabetes (T1D) management. In recent years, continuous glucose monitoring (CGM) has provided an alternative to daily fingerstick testing for the optimisation of insulin dosing and general glucose management in people with T1D. While studies have been conducted to evaluate the impact of CGM on clinical outcomes in the US, Europe and Australia, there are limited data available for low- and middle-income countries (LMICs) and further empirical evidence is needed to inform policy decision around their use in these countries.

Why We Need to Change How We Talk About Infectious Disease.

This article builds a case for raising occupational consciousness by critically questioning ahistorical and apolitical uses of battle language, especially when referring to infectious diseases. Words such as invasion, colonization, and resistance are particularly ethically troubling, and this article considers why the social practices our language brings about matter in health care. Dynamic relationships among humans and microbes, as well as metaphor, are considered here in historical context and through the lens of Derrida's portmanteau hostipitality, which invites reconsideration of an infectious disease notion of host and how conceptions of hospitality have been institutionalized and commodified.

Injury Profile in Youth Female Athletes: A Systematic Review and Meta-Analysis.

Background: An increasing number of epidemiological studies assessing the incidence, prevalence and severity of injury in youth female sport are available. However, no study has sought to synthesise the current evidence base across all youth female sport. As such, a systematic review and meta-analysis of injury in this cohort is necessary to understand the diversity of injury and its associated burden between sports in addition to identifying the density of research available.

Feasibility and Acceptability of Web-Based Structured Oral Examinations for Postgraduate Certification: Mixed Methods Preliminary Evaluation.

Background: The COVID-19 pandemic disrupted postgraduate certification examinations globally. The Colleges of Medicine of South Africa continued hosting certification examinations through the pandemic. This was achieved by effecting a rapid transition from in-person to web-based certification examinations.

Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.

Introduction: The increase in incidence of colorectal cancer in young patients of African ancestry coupled with increased aggressiveness has warranted investigation of the heritable nature of these cancers. Only a limited number of published reports of hereditary colorectal cancer in indigenous African populations have been reported and no systematic screening of these groups has been performed previously. We aimed to investigate causative germline variants and to establish the incidence of pathogenic/likely pathogenic germline variants in the known colorectal cancer genes in indigenous African colorectal cancer patients using a next-generation sequencing (NGS) multigene panel.

The speed and acceleration of the ball carrier and tackler into contact during front-on tackles in rugby league.

The aim was to use a combination of video analysis and microtechnology (10 Hz global positioning system [GPS]) to quantify and compare the speed and acceleration of ball-carriers and tacklers during the pre-contact phase (contact - 0.5s) of the tackle event during rugby league match-play. Data were collected from 44 professional male rugby league players from two Super League clubs across two competitive matches.

Minimal scarring in a premature neonate.

Background: Scar formation and management is one of the major issues in plastic surgery. Scars are a chronic burden to patients, their families, and the wider healthcare system and while non-surgical and surgical options have been shown to reduce scarring and its impact, there are currently no therapeutic options to completely heal scars or to avoid scarring. Early gestation animals have been reported to heal skin wounds without scarring.

A comparison of activity demands between trial matches and in-season matches across multiple teams and seasons in semi-professional, male rugby league players.

Trial matches are frequently used for team preparation in rugby league competitions, making it essential to understand the demands experienced to assess their specificity to actual competition. Consequently, this study aimed to compare the activity demands between pre-season trial matches and early in-season rugby league matches. Following a repeated-measures observational design, 39 semi-professional, male rugby league players from two clubs were monitored using microsensors during two trial matches and the first two in-season matches across two consecutive seasons.

I won't let you down; why 20% of Men's and Women's Super League players underreported suspected concussions.

Objectives: Quantify and identify factors associated with concussion underreporting in Super League rugby league players.

Design: Cross sectional survey.

Methods: During the 2022 season preseason, 422 Men's and Women's Super League players completed an online survey quantifying player demographics, rugby playing history, concussion history, prevalence of, and reasons for underreporting concussion, concussion knowledge and long-term implications and perceptions of concussion.

"On the trail of the mercy bullet": Pain, scientific showmanship, and the early history of animal tranquilizing, c. 1912-1932.

In June 1928, Captain Barnett W. Harris, an amateur naturalist from Indiana, arrived in Zululand to experiment on wild animals with his invention - the mercy bullet. This "bullet"consisted of a hypodermic needle filled with anesthetic drugs that could render an animal unconscious - an early model of what is now known as the tranquilizer gun.

"Is the focus in professional rugby ever really on health?": A qualitative study on the uptake of illness prevention guidelines in rugby.

Illness prevention is essential for athlete health management, but little is known about its uptake in sport. Prior to the pandemic, the International Olympic Committee (IOC) published a consensus statement recommending illness prevention guidelines are implemented in sports. Yet, little is known about guideline uptake.

ChAdOx1 nCoV-19 (AZD1222) vaccine-induced Fc receptor binding tracks with differential susceptibility to COVID-19.

Despite the success of COVID-19 vaccines, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants of concern have emerged that can cause breakthrough infections. Although protection against severe disease has been largely preserved, the immunological mediators of protection in humans remain undefined. We performed a substudy on the ChAdOx1 nCoV-19 (AZD1222) vaccinees enrolled in a South African clinical trial.

Ecological impacts of climate change on Arctic marine megafauna.

Global warming affects the Arctic more than any other region. Mass media constantly relay apocalyptic visions of climate change threatening Arctic wildlife, especially emblematic megafauna such as polar bears, whales, and seabirds. Yet, we are just beginning to understand such ecological impacts on marine megafauna at the scale of the Arctic.