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Research

Changing Prevalence of Lower Airway Infections in Young Children with Cystic Fibrosis

Aspergillus species and P. aeruginosa are commonly present in the lower airways from infancy

Research

Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being

For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing

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Association between diesel engine exhaust exposure and lung function in Australian gold miners

Diesel engine exhaust exposures were higher in underground miners and had a negative association with their lung function over a single 12-h shift

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Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.

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Sex differences between parental pregnancy characteristics and nonalcoholic fatty liver disease in adolescents

We examined relationships between parental pregnancy-related characteristics and NAFLD in 1,170 adolescent offspring aged 17 years in Raine Cohort Study.

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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

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Cohort Profile: The ORIGINS pregnancy and birth cohort

Desiree Dr Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons), PGradDipHlthProm, PhD MBBS BMedSci PhD

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Comorbidities and quality of life in children with intellectual disability

Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met.

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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.

Research

A pilot study of disease related education and psychotherapeutic support for unresolved grief in parents of children with CF

Diagnosis of chronic disease in a child can result in unresolved grief (UG) in parents. This study aimed to evaluate the efficacy of psychological insight-oriented therapy (IOT) as a treatment for UG compared to disease related education in parents of children with cystic fibrosis. Sequence of delivery, first IOT then disease related education (or vice versa) was also examined, to let all participants experience both interventions.