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Research

Twenty years of integrated disease surveillance and response in Sub-Saharan Africa: challenges and opportunities for effective management of infectious disease epidemics

This systematic review aimed to analyse the performance of the Integrated Disease Surveillance and Response strategy in Sub-Saharan Africa and how its implementation has embraced advancement in information technology, big data analytics techniques and wealth of data sources.

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Evaluation of protocol amendments to the Environmental Determinants of Islet Autoimmunity (ENDIA) study during the COVID-19 pandemic

Liz Davis MBBS FRACP PhD Co-director of Children’s Diabetes Centre Co-director of Children’s Diabetes Centre Professor Davis is a paediatric

Research

Spitz Melanoma of Childhood With A Novel Promoter Hijacking Anaplastic Lymphoma Kinase (C2orf42-ALK) Rearrangement

We present the case of a prepubescent man of African descent who developed a spitzoid melanocytic proliferation showing evidence of a novel promoter hijacking ALK-C2orf42 rearrangement, with atypical histology, clinically apparent metastatic disease, and abnormal cytogenetic findings, representing a rare genuine case of "Spitz melanoma of childhood."

Research

Resilience, renewal and hope in Australian Indigenous-led primary health care initiatives

Citation: Marriott R, Reibel T. Resilience, renewal and hope in Australian Indigenous-led primary health care initiatives. Prim Health Care Res Dev.

Research

Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered.

Research

A Parent-Mediated Intervention for Newborns at Familial Likelihood of Autism: Initial Feasibility Study in the General Population

Developmental theory and previous studies support the potential value of prodromal interventions for infants at elevated likelihood of developing autism. Past research has supported the efficacy of parent-mediated prodromal therapies with infants from as early as 7 months. We outline the rationale for implementing interventions following this model from even earlier in development and report on the feasibility of a novel intervention developed following this model of parent-mediated infant interventions.

Research

Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia

KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia.

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Comparative assessment of the human and animal health surveillance systems in Tanzania: Opportunities for an integrated one health surveillance platform

Globally, there have been calls for an integrated zoonotic disease surveillance system. This study aimed to assess human and animal health surveillance systems to identify opportunities for One Health surveillance platform in Tanzania.

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Penicillin allergy SHACK: Survey of hospital and community knowledge

Penicillin allergy accounts for the majority of all reported adverse drug reactions in adults and children. Foregoing first-line antibiotic therapy due to penicillin allergy label is associated with an increased prevalence of infections by resistant organisms and longer hospitalisation.

Research

Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.