Search
Research
Characterising the Phenotypic Diversity of Antigen-Specific Memory B Cells Before and After VaccinationThe diversity of B cell subsets and their contribution to vaccine-induced immunity in humans are not well elucidated but hold important implications for rational vaccine design. Prior studies demonstrate that B cell subsets distinguished by immunoglobulin (Ig) isotype expression exhibit divergent activation-induced fates. Here, the antigen-specific B cell response to tetanus toxoid (TTd) booster vaccination was examined in healthy adults, using a dual-TTd tetramer staining flow cytometry protocol.
Research
Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
Research
The unmet clinical needs of children with developmental coordination disorderThe aim of this study was to understand the challenges experienced by families obtaining a diagnosis and therapy for developmental coordination disorder (DCD). Parents of 435 children aged 4-18 years with persistent motor difficulties consistent with a diagnosis of DCD completed an online survey. Diagnostic timeline and diagnostic label/s received were examined, along with therapies accessed.
Research
Clinical Evaluation and Diagnosis of Acute Rheumatic FeverThe diagnosis of acute rheumatic fever relies on a combination of clinical evaluation and laboratory studies. Diagnosis is usually made using the Jones criteria, which have recently been updated in 2015.
Research
DYRK1A regulates B cell acute lymphoblastic leukemia through phosphorylation of FOXO1 and STAT3DYRK1A is a serine/threonine kinase encoded on human chromosome 21 (HSA21) that has been implicated in several pathologies of Down syndrome (DS), including cognitive deficits and Alzheimer's disease. Although children with DS are predisposed to developing leukemia, especially B cell acute lymphoblastic leukemia (B-ALL), the HSA21 genes that contribute to malignancies remain largely undefined. Here, we report that DYRK1A is overexpressed and required for B-ALL. Genetic and pharmacologic inhibition of DYRK1A decreased leukemic cell expansion and suppressed B-ALL development in vitro and in vivo.
Research
Reduced forced vital capacity in Aboriginal Australians: Biology or missing evidence?This editorial article addresses chronic obstructive pulmonary disease and lung function testing in Aboriginal Australians.
Research
The stark reality of rheumatic heart diseaseThis editorial refers to ‘Characteristics, complications, and gaps in evidence-based interventions in rheumatic heart disease: the Global Rheumatic Heart...
Research
Consensus guidelines for the treatment of invasive mould infections in haematological malignancy and haemopoietic stem cell transplantationEvidence-based recommendations for the antifungal management of common, rare and emerging mould infections in both adult and paediatric populations
Research
Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families?Behavioural differences in children with Autism Spectrum Disorder from simplex and multiplex families
Research
Respiratory impedance in healthy unsedated South African infants: Effects of maternal smokingNon-invasive techniques for measuring lung mechanics in infants are needed for a better understanding of lung growth and function...