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Research

NUT carcinoma (NC), previously known as NUT midline carcinoma, is a rare and very aggressive cancer that occurs in both children and adults. NC is largely chemoresistant, with an overall survival of less than 7 months. Because the carcinoma is not restricted to a particular organ, diagnosis is often a challenge. In the absence of a clearly determined incidence for NC, we sought to study the diagnosis of patients in a well-defined population.

Research

Increasing numbers of trans young people are seeking medical services worldwide, but there have been few qualitative investigations of the experiences of trans young people attempting to engage with these services to explore in-depth experiences of clinical interactions.

Research

Occupational therapy research has not fully utilized available research methods when exploring occupational therapists' views on specific interventions and service provision nor when exploring consumer priorities and the impact of occupational therapy services. Q methodology, a quantitative method for the systematic assessment of qualitative data, is an approach that can be used to examine viewpoints related to occupational therapy.

Research

Although pregnant smokers may perceive electronic cigarettes (e-cigarettes) as safe alternatives to smoking combustible cigarettes, few studies have evaluated perinatal e-cigarette use and its associated health effects. We analyzed data from the Pregnancy Risk Assessment Monitoring System (PRAMS, 2016-2018) for 16,022 women who recently gave birth and reported smoking combustible cigarettes prior to pregnancy.

Research

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.

Research

Sensitive and non-invasive surveillance tools are needed for the clinical management of infants and preschool children with cystic fibrosis (CF). The lung clearance index from the multiple breath washout and functional and morphological outcomes from magnetic resonance imaging provide promising alternatives to current gold standard techniques. Early detection and treatment of lung disease during this important period offers the opportunity to improve the quality of life for individuals with CF.

Research

The breadth of available non-pharmacological interventions for autistic children, with varying evidence for efficacy summarised in multiple systematic reviews, creates challenges for parents, practitioners, and policymakers in navigating the research evidence. In this article, we report the findings of an umbrella review of 58 systematic reviews of non-pharmacological interventions for autistic children (aged 0–12 years).

Research

Pediatric acute lymphoblastic leukemia (ALL) therapy is accompanied by treatment-related toxicities (TRTs) and impaired quality of life. In Australia and New Zealand, children with ALL are treated with either Children's Oncology Group (COG) or international Berlin-Frankfurt-Munster (iBFM) Study Group-based therapy.

Research

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.

Research

Genome-wide association studies (GWAS) have enabled the discovery of single nucleotide polymorphisms (SNPs) that are significantly associated with many autoimmune diseases including type 1 diabetes (T1D). However, many of the identified variants lie in non-coding regions, limiting the identification of mechanisms that contribute to autoimmune disease progression.