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Research

The accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.

Research

Pulmonary exacerbations in cystic fibrosis are characterized by airway inflammation and may cause irreversible lung damage. Early identification of such exacerbations may facilitate early initiation of treatment, thereby potentially reducing long-term morbidity. Research question: Is it possible to predict pulmonary exacerbations in children with cystic fibrosis, using inflammatory markers obtained from BAL fluid?

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The risk of entry to state care during infancy is increasing, both here in England and abroad, with most entering within a week of birth ('newborns'). However, little is known about these infants or of their pathways through care over early childhood.

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There is a global trend towards place-based initiatives (PBIs) to break the cycle of disadvantage and promote positive child development. Co-location is a common element of these initiatives and is intended to deliver more coordinated services for families of young children. This paper examines how co-locating early childhood services (ECS) from health and education in Child and Family Centres (CFCs) has impacted collaboration between services.

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The earliest respiratory function assessments, within or close to the neonatal period, consistently show correlations with lung function and with the development of asthma into adulthood. Measurements of lung function in infancy reflect the in utero period of lung development, and if early enough, show little influence of postnatal environmental exposures. 

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Shannon Elizabeth Simpson Smith BMedSci (hons), PhD PhD, MSc, BSc Head, Strong Beginnings Research, Co-head Foundations of Lung Disease Program

Research

In cystic fibrosis, gastrointestinal dysfunction and lower airway infection occur early and are independently associated with poorer outcomes in childhood. This study aimed to define the relationship between the microbiota at each niche during the first 2 years of life, its association with growth and airway inflammation, and explanatory features in the metabolome. 

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Persistent bacterial lung infections in children lead to significant morbidity and mortality due to antibiotic resistance. In this paper, we describe how phage therapy has shown remarkable efficacy in preclinical and clinical studies, demonstrating significant therapeutic benefits through various administration routes. 

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Although most people born this century will be educated in African schools, these schools often lack basic infrastructure, such as electricity and/or lighting. In the face of a rapidly growing school-age population in Africa, the electrification of educational facilities is not just an infrastructural challenge but also a pivotal investment in the continent’s future workforce.

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Estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.