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Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.

Risk assessment and optimization strategies to reduce perioperative respiratory adverse events in pediatric anesthesia—Part 1 patient and surgical factors

Pediatric surgery cases are increasing worldwide. Within pediatric anesthesia, perioperative respiratory adverse events are the most common precipitant leading to serious complications.

Clinical utility of preoperative pulmonary function testing in pediatrics

Perioperative respiratory adverse events pose a significant risk in pediatric anesthesia, and identifying these risks is vital. Traditionally, this is assessed using history and examination. However, the perioperative risk is multifactorial, and children with complex medical backgrounds such as chronic lung disease or obesity may benefit from additional objective preoperative pulmonary function tests.

A Survey of Autistic Adults from New Zealand on the Autism Diagnostic Process During Adolescence and Adulthood

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.

Acute Lymphoblastic Leukemia in Infants: A Distinctive, High-Risk Subtype of Childhood Acute Lymphoblastic Leukemia

Acute lymphoblastic leukemia (ALL) in infants younger than 1 year of age is an aggressive, high-risk subtype of childhood ALL. Infant ALL with KMT2A-r is characteristically poorly responsive to chemotherapy and hematopoietic stem cell transplantation. New strategies, such as molecularly targeted therapies and immunotherapies, are in development and show promise in preclinical models and early phase studies.

The Effects of Using the Sun Safe App on Sun Health Knowledge and Behaviors of Young Teenagers: Results of Pilot Intervention Studies

A balanced approach toward sun exposure and protection is needed by young people. Excessive sun exposure increases their risk for skin cancers such as melanoma, whereas some exposure is necessary for vitamin D and healthy bones. We have developed a new iOS smartphone app-Sun Safe-through a co-design process, which aims to support healthy and balanced decision-making by young teenagers (aged 12-13 years).

Risk factors associated with unsuccessful tuberculosis treatment outcomes in Hunan Province, China

Globally, China has the third highest number of tuberculosis (TB) cases despite high rates (85.6%) of effective treatment coverage. Identifying risk factors associated with unsuccessful treatment outcomes is an important component of maximising the efficacy of TB control programmes.

Examining Effectiveness and Predictors of Treatment Response of Pivotal Response Treatment in Autism: An Umbrella Review and a Meta-Analysis

The current study aimed to provide a comprehensive appraisal of the current evidence on the effectiveness of Pivotal Response Training (PRT) for individuals with autism spectrum disorder (ASD) and to explore predictors of treatment response.

Youth-onset type 2 diabetes among First Nations young people in northern Australia: a retrospective, cross-sectional study

Liz Davis MBBS FRACP PhD Co-director of Children’s Diabetes Centre Co-director of Children’s Diabetes Centre Professor Davis is a paediatric

Acceptability of OP/Na swabbing for SARS-CoV-2: a prospective observational cohort surveillance study in Western Australian schools

When the COVID-19 pandemic was declared, Governments responded with lockdown and isolation measures to combat viral spread, including the closure of many schools. More than a year later, widespread screening for SARS-CoV-2 is critical to allow schools and other institutions to remain open.