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Research
A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromesHereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation.
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Planning ahead: the mental health value of natural environmentsOver the past decade, a growing number of studies have linked urban green space and aspects of biodiversity with emotional wellbeing.
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A Small Device May Deliver King-Sized Solutions for Patients With an Exacerbation of Cystic FibrosisThe aim is to examine whether using a portable spring-infusor device to deliver antibiotics compared with a standard infusion pump (SIP) translated to (i) improve health outcomes, (ii) reduce the length of stay (LoS), and (iii) reduce cost for treatment of exacerbations of cystic fibrosis.
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The relationship between maternal folate status in pregnancy, cord blood folate levels, and allergic outcomes in early childhoodThis study examined whether maternal and/or fetal folate status in pregnancy is associated with infant allergic outcomes.
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Children with otitis media mount a pneumococcal serotype specific serum IgG and IgA response comparable to healthy controls after pneumococcal conjugate vaccinationWe investigated the suggestion that otitis-prone children have an impaired antibody response in the context of pneumococcal vaccination.
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T-cell activation genes differentially expressed at birth in CD4+ T-cells from children who develop IgE food allergyTo show underlying mechanisms, we examined differences in T-cell gene expression in samples at birth and at 1 year in children with and without IgE allergy.
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Parental Experiences of Having a Child Diagnosed With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.
Examining the pathways of perinatal maternal mental health that influence child mental health outcomes.
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Aural toilet (ear cleaning) for chronic suppurative otitis mediaChronic suppurative otitis media (CSOM), sometimes referred to as chronic otitis media (COM), is a chronic inflammation and often polymicrobial infection (involving more than one micro-organism) of the middle ear and mastoid cavity, characterised by ear discharge (otorrhoea) through a perforated tympanic membrane.
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Genome-wide association analysis identifies 13 new risk loci for schizophreniaCommon genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder.