Search
Showing results for "lung disease preterm"
To investigate temporal trends in admission rates for acute lower respiratory infections (ALRI) in a total population birth cohort of non-Aboriginal and...
Namibia, a low malaria transmission country targeting elimination, has made substantial progress in reducing malaria burden through improved case management, widespread indoor residual spraying and distribution of insecticidal nets. The country's diverse landscape includes regions with varying population densities and geographical niches, with the north of the country prone to periodic outbreaks.
Rheumatic heart disease is the largest contributor to cardiac-related mortality in children worldwide. Outcomes in endemic settings after its antecedent illness, acute rheumatic fever, are not well understood. We aimed to describe 3-5 year mortality, acute rheumatic fever recurrence, changes in carditis, and correlates of mortality after acute rheumatic fever.
Christopher Peter Tom Blyth Richmond Snelling MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP BMBS DTMH GDipClinEpid PhD FRACP Centre Head,
Christopher Peter Peter Tom Blyth Jacoby Richmond Snelling MBBS (Hons) DCH FRACP FRCPA PhD BA (Hons) MSc MBBS MRCP(UK) FRACP BMBS DTMH GDipClinEpid
The MINERvA Network will allow more accurate and precise determination of the contributions of familial and environmental factors to the etiology of autism.
The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and their clustering, and for trajectory groups, relationships with genotype and mobility, weight-for-age z scores, and seizure frequency.
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.