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Research

Fetal Alcohol Spectrum Disorder (FASD) is a condition caused by prenatal exposure to alcohol and characterised by severe neurodevelopmental impairment which have lifelong implications. Impairments in executive function, memory, cognition, language and attention are common, and can lead to early and repeat engagement with the criminal justice system.

Research

Atopic diseases are the most common chronic conditions of childhood. The apparent rise in food anaphylaxis in young children over the past three decades is of particular concern, owing to the lack of proven prevention strategies other than the timely introduction of peanut and egg.

Research

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains.

Research

Emerging research suggests that maternal immune activation (MIA) may be associated with an increased risk of adverse neurodevelopmental and mental health outcomes in offspring. Using data from the Raine Study, we investigated whether MIA during pregnancy was associated with increased behavioral and emotional problems in offspring longitudinally across development.

Research

Continuous capnography has been recognised as an essential monitoring device in all anesthetized patients, despite which airway device is in use, regardless of their location, as a measure to improve patient safety. Capnography is the non-invasive measurement of a sample of the exhaled carbon dioxide which has multiple clinical uses including as a method to confirm placement of a tracheal tube and/or to assess ventilation, perfusion and metabolism.

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This study evaluated the efficacy of using a hybrid closed loop system in restoring hypoglycemia awareness in individuals with impaired awareness of hypoglycemia. Participants with IAH (Gold score ≥4) were recruited into a randomized crossover pilot study.

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

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

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

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.