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        Research

        Systematic In Vitro Evaluation of a Library of Approved and Pharmacologically Active Compounds for the Identification of Novel Candidate Drugs for KMT2A-Rearranged Leukemia

        Patients whose leukemias harbor a rearrangement of the Mixed Lineage Leukemia (MLL/KMT2A) gene have a poor prognosis, especially when the disease strikes in infants. The poor clinical outcome linked to this aggressive disease and the detrimental treatment side-effects, particularly in children, warrant the urgent development of more effective and cancer-selective therapeutics. ...

        Research

        Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

        There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. ...

        Research

        Rheumatic Heart Disease in Pregnancy: New Strategies for an Old Disease?

        RHD in pregnancy (RHD-P) is associated with an increased burden of maternal and perinatal morbidity and mortality. A sequellae of rheumatic fever resulting in heart valve damage if untreated, RHD is twice as common in women. In providing an historical overview, this commentary provides context for prevention and treatment in the 21 st century. Four underlying themes inform much of the literature on RHD-P: its association with inequities; often-complex care requirements; demands for integrated care models, and a life-course approach. ...

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        Caring for Pregnant Women with Rheumatic Heart Disease: A Qualitative Study of Health Service Provider Perspectives

        Rheumatic heart disease (RHD) persists in low-middle-income countries and in high-income countries where there are health inequities. RHD in pregnancy (RHD-P) is associated with poorer maternal and perinatal outcomes. Our study examines models of care for women with RHD-P from the perspectives of health care providers. ...

        Research

        Addressing Race in Pulmonary Function Testing by Aligning Intent and Evidence With Practice and Perception

        The practice of using race or ethnicity in medicine to explain differences between individuals is being called into question because it may contribute to biased medical care and research that perpetuates health disparities and structural racism. ...

        Research

        Global distribution of human hookworm species and differences in their morbidity effects: a systematic review

        The global distribution and morbidity effects for each specific hookworm species is unknown, which prevents implementation of the optimum intervention for local hookworm control. ...

        Research

        Childhood Systemic Lupus Erythematosus: Presentation, management and long-term outcomes in an Australian cohort

        Systemic Lupus Erythematosus (SLE) is a serious autoimmune disease often resulting in major end-organ damage and increased mortality. Currently, no data exists focussing on the presentation, long-term management and progression of SLE in the Australian paediatric population. ...

        Research

        The COVID-19 vaccination campaign in Bhutan: strategy and enablers

        Bhutan has reported a total of 2596 COVID-19 cases and three deaths as of September 15, 2021. With support from India, the United States, Denmark, the People’s Republic of China, Croatia and other countries, Bhutan was able to conduct two rounds of nationwide vaccination campaign. ...

        Research

        Status epilepticus outcomes among vaccinated and unvaccinated children: A population-based study

        To determine the proportion of first status epilepticus cases that are vaccine-proximate and compare clinical outcomes to non-vaccine-proximate cases. ...

        Research

        Circulating Epithelial Cell Cytokines Are Associated With Early-Onset Atopic Dermatitis

        Debbie Susan Palmer Prescott D SL BSc BND PhD MBBS BMedSci PhD FRACP Head, Early Life & Life-Course Health Program; Team Lead, Nutrition in Early Life Honorary Research Fellow debbie.palmer@uwa.edu.au susan.prescott@telethonkids.org.au Head, Early ...

        Research

        Eye Gaze in Autism Spectrum Disorder: A Review of Neural Evidence for the Eye Avoidance Hypothesis

        Reduced eye contact early in life may play a role in the developmental pathways that culminate in a diagnosis of autism spectrum disorder. However, there are contradictory theories regarding the neural mechanisms involved. According to the amygdala theory of autism, reduced eye contact results from a hypoactive amygdala that fails to flag eyes as salient. However, the eye avoidance hypothesis proposes the opposite-that amygdala hyperactivity causes eye avoidance. This review evaluated studies that measured the relationship between eye gaze and activity in the 'social brain' when viewing facial stimuli. ...

        Research

        Cancer therapies inducing DNA damage

        The induction of DNA damage has been employed as an anticancer strategy for more than 100years, first starting with the use of radiation to treat stomach cancer followed by the first uses of DNA-damaging chemotherapy to treat childhood leukemia. ...

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