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        Reproducible Bioinformatics Analysis Workflows for Detecting IGH Gene Fusions in B-Cell Acute Lymphoblastic Leukaemia Patients

        B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection. ...

        Research

        Pre-Clinical Evaluation of the Hypomethylating Agent Decitabine for the Treatment of T-Cell Lymphoblastic Lymphoma

        T-cell lymphoblastic lymphoma (T-LBL) is a rare and aggressive lymphatic cancer, often diagnosed at a young age. Patients are treated with intensive chemotherapy, potentially followed by a hematopoietic stem cell transplantation. Although prognosis of T-LBL has improved with intensified treatment protocols, they are associated with side effects and 10-20% of patients still die from relapsed or refractory disease. Given this, the search toward less toxic anti-lymphoma therapies is ongoing. ...

        Research

        Ear Portal: An urban-based ear, nose, and throat, and audiology referral telehealth portal to improve access to specialist ear-health services for children

        Shortage of ear, nose, and throat specialists in public hospitals can result in delays in the detection and management of otitis media. This study introduced a new hospital-based telehealth service, named the Ear Portal, and investigated its role in improving access to specialist care. ...

        Research

        Cardiometabolic Risk Markers for Aboriginal and Torres Strait Islander Children and Youths: A Systematic Review of Data Quality and Population Prevalence

        Cardiovascular disease and type 2 diabetes mellitus are leading contributors to the health inequity experienced by Aboriginal and Torres Strait Islander peoples, and their antecedents can be identified from early childhood. We aimed to establish the quality of available data and the prevalence of cardiometabolic risk markers among Aboriginal and Torres Strait Islander children and youths (0-24-year-olds) to inform public health approaches. ...

        Research

        Acute Leukaemia of Ambiguous Lineage Presenting as a Focal Bone Lesion: a Case Report

        Acute leukaemia is the most common childhood malignancy. Almost all cases are classified as acute lymphoblastic leukaemia or acute myeloid leukaemia. Acute leukaemia of ambiguous lineage (ALAL) is a rare form of acute leukaemia that cannot be classified by a single lineage. Like other acute leukaemias, ALAL typically presents with nonspecific symptoms such as fatigue, fever, or bleeding. ...

        Research

        Secondary Antibiotic Prophylaxis for Latent Rheumatic Heart Disease

        Rheumatic heart disease affects more than 40.5 million people worldwide and results in 306,000 deaths annually. Echocardiographic screening detects rheumatic heart disease at an early, latent stage. Whether secondary antibiotic prophylaxis is effective in preventing progression of latent rheumatic heart disease is unknown. ...

        Research

        Defining the fetal origin of MLL-AF4 infant leukemia highlights specific fatty acid requirements

        Infant MLL-AF4-driven acute lymphoblastic leukemia (ALL) is a devastating disease with dismal prognosis. A lack of understanding of the unique biology of this disease, particularly its prenatal origin, has hindered improvement of survival. We perform multiple RNA sequencing experiments on fetal, neonatal, and adult hematopoietic stem and progenitor cells from human and mouse. ...

        Research

        Changes in the clinical and epidemiological features of group A streptococcal bacteraemia in Australia's northern territory

        We aimed to measure the incidence and severity of invasive Group A Strep disease in the NT since 1996. ...

        Research

        Utility of auscultatory screening for detecting rheumatic heart disease in high-risk children in Australia's Northern Territory

        Sensitivity and positive predictive value of cardiac auscultation compared with echocardiography is poor, regardless of the expertise of the auscultator. ...

        Research

        House dust mite allergens in asthma and allergy

        IgE antibodies in house dust mite (HDM) allergy follow a predictable pattern. Half are directed against two dominant allergens and the remainder largely against ...

        Research

        MEIS proteins as partners of the TLX1/HOX11 oncoprotein

        Aberrant expression of the TLX1/HOX11 proto-oncogene is associated with a significant subset of T-cell acute lymphoblastic leukemias... ...

        Research

        Investigating the effects of macrolides on excessive synthesis and secretion of airway mucins using novel ex vivo and in vivo approaches

        Alexander Larcombe A BScEnv (Hons) PhD Team Leader, Respiratory Environmental Health Team Leader, Respiratory Environmental Health Associate Professor Alexander Larcombe began work at the Telethon Institute in 2005 and is now a Senior Research ...

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