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Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants with EA are locally or regionally based. We aimed to describe survival across multiple world regions. We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research.
The suboptimal sensitivity and specificity of available diagnostic methods for scabies hampers clinical management, trials of new therapies and epidemiologic studies. Additionally, parasitologic diagnosis by microscopic examination of skin scrapings requires sample collection with a sharp scalpel blade, causing discomfort to patients and difficulty in children. Polymerase chain reaction (PCR)-based diagnostic assays, combined with non-invasive sampling methods, represent an attractive approach.
Measurement of lung volumes across the life course is critical to the diagnosis and management of lung disease. The aim of the study was to use the Global Lung Function Initiative methodology to develop all-age multi-ethnic reference equations for lung volume indices determined using body plethysmography and gas dilution techniques.
Myopia (near-sightedness) is an important public health issue. Spending more time outdoors can prevent myopia but the long-term association between this exposure and myopia has not been well characterised. We investigated the relationship between time spent outdoors in childhood, adolescence and young adulthood and risk of myopia in young adulthood. The Kidskin Young Adult Myopia Study (KYAMS) was a follow-up of the Kidskin Study, a sun exposure-intervention study of 1776 children aged 6-12 years.
T cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy with inferior outcome compared with that of B cell ALL. Here, we show that Runt-related transcription factor 2 (RUNX2) was upregulated in high-risk T-ALL with KMT2A rearrangements (KMT2A-R) or an immature immunophenotype. In KMT2A-R cells, we identified RUNX2 as a direct target of the KMT2A chimeras, where it reciprocally bound the KMT2A promoter, establishing a regulatory feed-forward mechanism.
Recent research highlights an overlap of gender diversity and autism spectrum disorders (ASD); however, data on individuals who are trans and also on the autism spectrum are largely from clinical samples and may not be representative of individuals who are trans with ASD in the general population. In addition, there is scant literature on the mental health of these individuals and their experiences in accessing gender-affirming care.
Anticipation and prompt relief of symptoms among patients with a life-limiting illness is a core element of palliative care. Indigenous Australians commonly encounter cultural barriers in healthcare that may impair outcomes. The Palliative Care Outcomes Collaboration collects patient care data for the purposes of continuous quality improvement and benchmarking, with each recorded care episode divided into phases that reflect a patient's condition.
Coronavirus disease 2019 (COVID-19) is an acute respiratory illness caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 initially was identified from a cluster of patients admitted with ‘pneumonia of unknown etiology’ in late December 2019 to hospitals in Wuhan, Hubei Province, China.
Over the past decade there has been a marked growth in the use of linked population administrative data for child protection research. This is the first systematic review of studies to report on research design and statistical methods used where population-based administrative data is integrated with longitudinal data in child protection settings.
The diagnostic experiences of autistic adults in New Zealand have not been investigated and little is known globally about autistic adults' satisfaction with the autism diagnostic process. This study describes the diagnostic experiences of 70 autistic adults living in New Zealand and explores how these experiences are related to satisfaction during three stages of the diagnostic process. The results show that autistic adults were reasonably satisfied with the early query and diagnostic assessment stages, but were dissatisfied with the post-diagnostic support stage, with significant unmet needs. Dissatisfaction during the post-diagnostic support stage was also related to satisfaction during previous stages and poor coordination of supports. Suggestions are made on how to improve the autism diagnostic pathway for autistic adults in New Zealand.