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Research

The Human Phenotype Ontology in 2021

The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.

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Minimal structural lung disease in early life represents significant pathology

In this cohort, as compared with the AREST CF cohort, the authors highlight the limited correlation between infection and inflammation with lung function and structural impairment, and that this was mainly explained by the mild changes identified in lung function and on chest CT scan.

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Financial Interventions to Increase Vaccine Coverage

Recent vaccine mandates in Australia, as in other high income settings, have sought to change the behavior of parents, including those who would otherwise access nonmedical exemptions. Since 2014, Australian state governments have introduced and progressively tightened policies restricting the access of unvaccinated children to early education and child care.

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Timeliness and factors associated with rotavirus vaccine uptake among Australian Aboriginal and non-Aboriginal children: A record linkage cohort study

Aboriginal children are at greater risk of rotavirus disease than non-Aboriginal children and delayed vaccine receipt is substantially higher

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Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear

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Time to tackle rheumatic heart disease: Data needed to drive global policy dialogues

This report provides an update on the contemporary global and regional policy landscapes relevant to rheumatic heart disease

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Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome

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Metabolic and Psychological Impact of a Pragmatic Exercise Intervention Program in Adolescent and Young Adult Survivors of Pediatric Cancer-Related Cerebral Insult

Adolescent and young adult survivors of childhood brain tumors and cranial irradiation should be screened for metabolic and psychological well-being

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Clinical, Radiologic, Pathologic, and Molecular Characteristics of Long-Term Survivors of Diffuse Intrinsic Pontine Glioma

We report clinical, radiologic, and molecular factors that correlate with survival in children and young adults with diffuse intrinsic pontine glioma

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The importance of the exposome and allostatic load in the planetary health paradigm

The concept of planetary health emphasizes that human health is intricately connected to the health of natural systems within the Earth's biosphere