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Showing results for "Au"

Research

Preclinical efficacy of azacitidine and venetoclax for infant KMT2A-rearranged acute lymphoblastic leukemia reveals a new therapeutic strategy

Infants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have a dismal prognosis. Survival outcomes have remained static in recent decades despite treatment intensification and novel therapies are urgently required.

Research

Transfers of disadvantage across three generations using latent class associations within families

There is a large volume of research on the persistence of advantage and disadvantage across generations. Intergenerational studies typically address family resources as independent factors, which ignores how risks cluster together and accumulate over time.

Research

Preclinical Evaluation of Carfilzomib for Infant KMT2A-Rearranged Acute Lymphoblastic Leukemia

Infants with KMT2A-rearranged B-cell precursor acute lymphoblastic leukemia (ALL) have poor outcomes. There is an urgent need to identify novel agents to improve survival. Proteasome inhibition has emerged as a promising therapeutic strategy for several hematological malignancies. The aim of this study was to determine the preclinical efficacy of the selective proteasome inhibitor carfilzomib, for infants with KMT2A-rearranged ALL.

Research

Preclinical Evaluation of Carfilzomib for Infant KMT2A-Rearranged Acute Lymphoblastic Leukemia

Infants with KMT2A-rearranged B-cell precursor acute lymphoblastic leukemia (ALL) have poor outcomes. There is an urgent need to identify novel agents to improve survival. Proteasome inhibition has emerged as a promising therapeutic strategy for several hematological malignancies. The aim of this study was to determine the preclinical efficacy of the selective proteasome inhibitor carfilzomib, for infants with KMT2A-rearranged ALL.

Research

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

Research

Content validation of the Quality of Life Inventory—Disability

Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected

Research

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed

Research

Effectiveness of a 3 + 0 pneumococcal conjugate vaccine schedule against invasive pneumococcal disease among a birth cohort of 1.4 million children in Australia

Our population-based cohort study demonstrates that >90% coverage in the first year of a universal 3 + 0 PCV program provided high population-level protection

Research

Protective benefit of predominant breastfeeding against otitis media may be limited to early childhood: results from a prospective birth cohort study

Our findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood

Research

Healthy skin for children and young people with skin of colour starts with clinician knowledge and recognition

Skin conditions most frequently encountered in paediatric practice include infections, infestations, atopic dermatitis, and acne. Skin of colour refers to skin with increased melanin and darker pigmentation, and reflects global racial and ethnic diversity.Â