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Showing results for "early lung health"
Healthy skin is important for maintaining overall health and wellbeing. Some skin infections, if untreated, can lead to serious downstream health complications such as heart disease, kidney disease, or sepsis.
People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.
Research Assistant
This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.
The Kids Research Institute Australia has two researchers and an innovative science engagement initiative as finalists in the 2017 Premier’s Science Awards.
Multidrug-resistant tuberculosis is uncommon in Australia
New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period
Recent data on the epidemiology of impetigo and scabies and describe the current evidence around approaches to individual and community based treatment