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Perspectives on the origin and therapeutic opportunities in Down syndrome-associated leukemia

It is now well accepted that germline or de novo genetic alterations predispose to cancer development, especially during childhood. Among them, constitutive trisomy 21, also known as Down syndrome (DS), has been shown to predispose to acute leukemia affecting both the myeloid (ML-DS) and lymphoid (DS-ALL) lineages. ML-DS is associated with a good prognosis compared to children without DS, due in part to a higher sensitivity to conventional chemotherapy.

Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes

We performed a genome-wide association meta-analysis of 290,134 attention-deficit/hyperactivity disorder symptom measures of 70,953 unique individuals from multiple raters, ages and instruments. 

Prevalence of herbal medicine use for maternal conditions in Tanzania: a systematic review and meta-analysis

Studies reported the prevalence of herbal medicines used for various maternal conditions across regions in Tanzanian communities. However, the lack of a national estimate of herbal medicine use makes it challenging for policymakers, herbal medicine regulators, and healthcare practitioners to make informed decisions on herbal medicine-related policies and practices to optimize their contribution to maternal healthcare.

Current Practices and Priorities of Anesthetists and Consumers for Infants Undergoing Inguinal Hernia Surgery

There is a paucity of data on the chosen anesthesia management for infant inguinal hernia surgery. We aimed to characterize self-reported anesthetic practice in Australia and New Zealand. We also aimed to identify the outcomes that matter to both anesthetists and to parents and carers.

The inequitable burden of infectious diseases among remote-living Aboriginal and Torres Strait Islander Australians: a product of history

Although Streptococcus pyogenes (Strep A) is the sixth-most common infectious disease globally, its transmission within the household remains an understudied driver of infection. We undertook a systematic review to better understand the transmission of Strep A among people within the home, while highlighting opportunities for prevention.

Mining single-cell data for cell type-disease associations

A robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and

Food Allergy Genetics and Epigenetics: A Review of Genome-Wide Association Studies

In this review, we provide an overview of food allergy genetics and epigenetics aimed at clinicians and researchers. This includes a brief review of the current understanding of genetic and epigenetic mechanisms, inheritance of food allergy, as well as a discussion of advantages and limitations of the different types of studies in genetic research. 

Real world effectiveness of early ensitrelvir treatment in patients with SARS-CoV-2, a retrospective case series

Ensitrelvir, a 3C-like protease inhibitor, received emergency approval in Japan in November 2022 for treating non-hospitalized patients with mild-to-moderate COVID-19. However, confirmation of its real-world clinical effectiveness is limited.

Session Rating of Perceived Exertion Is a Valid Method to Monitor Intensity of Exercise in Adults with Acute Burn Injuries

Measuring exercise intensity for safety and to inform prescription in acute burn survivors, is challenging. This study aimed to assess the validity of adult patient end-of-workout rating of session perceived exertion (sRPE); and calculated training load (TL) (sRPE × session duration) as measures of exercise intensity. Secondly, the study aimed to compare clinician and patient perception of exercise effort during physiotherapist-led sessions.

Social Support Buffers the Association Between Alcohol Use and Depression in Australian Men

Alcohol use and depression are known correlates of one another, especially in men, and are influenced by a range of demographic and psychosocial factors. This study examined the association between alcohol use and depressive symptoms in a large representative cohort of Australian men. We also tested whether this association differed by men's age, household income, social support, illicit drug use and help-seeking.