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Showing results for "early lung health"
This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework
As one of Telethon’s earliest and most long-standing beneficiaries, we are incredibly proud to be taking part in the Telethon Weekend again in 2018.
This paper reports on the quality of early childhood education in rural Indonesia
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.
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
Research Assistant
Although Streptococcus pyogenes (Strep A) is the sixth-most common infectious disease globally, its transmission within the household remains an understudied driver of infection. We undertook a systematic review to better understand the transmission of Strep A among people within the home, while highlighting opportunities for prevention.
Embrace has appointed Professor of Clinical Psychology Jeneva Ohan as its new Co-Director alongside Professor Helen Milroy AM.
Described antimicrobial resistance mechanisms enable bacteria to avoid the direct effects of antibiotics and can be monitored by in vitro susceptibility testing and genetic methods. Here we describe a mechanism of sulfamethoxazole resistance that requires a host metabolite for activity.