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CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains.
CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
In addition to its role in blocking TH2 effector activation in the late-phase allergic response, IL-10 is a known IgG1 switch factor
Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
Mothers with asthma or atopy have a higher likelihood of having autistic children, with maternal immune activation in pregnancy implicated as a mechanism. This study aimed to determine, in a prospective cohort of mothers with asthma and their infants, whether inflammatory gene expression in pregnancy is associated with likelihood of future autism.
The relationship between anesthetic technique and pediatric oncological outcomes is an emerging field of interest. With significant improvements in childhood cancer survival in recent decades, there is an increased focus on optimizing the quality of survival and reducing the incidence of metastasis and recurrence. The aim of this narrative review article is to investigate and consolidate the current available evidence assessing the immunomodulatory effects of anesthesia in the pediatric oncology population.
Pregnancy is an opportunistic time for dietary intake to influence future disease susceptibility in offspring later in life. The ORIGINS Project was established to identify the factors that contribute to 'a healthy start to life' through a focus supporting childhood health and preventing disease (including non-communicable diseases).
A biologically active vaccine may produce a low measured vaccine efficacy under a range of epidemiological, vaccine-related and logistical conditions
We outline three scenarios from across the health spectrum where issues with health informatics are exemplified.
Nurses consider antimicrobial stewardship activities within their roles, but are underutilised in antimicrobial stewardship programs