Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.

Background: Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and/or lipids. Multiple pathogenic genes contribute to the varying reported phenotypes of individuals with CDG-1 syndromes, most of which are inherited as autosomal recessive traits, although X-linked inheritance has also been reported. Pathogenic variants in the asparagine-linked glycosylation 13 homolog (ALG13) gene have been implicated in the aetiology of developmental and epileptic encephalopathy (DEE) 36 (OMIM:*300776, DEE36).

Gender and sex hormone effects on neonatal innate immune function.

Objectives: Scientific evidence provides a widened view of differences in immune response between male and female neonates. The X-chromosome codes for several genes important in the innate immune response and neonatal innate immune cells express receptors for, and are inhibited by, maternal sex hormones. We hypothesized that sex differences in innate immune responses may be present in the neonatal population which may contribute to the increased susceptibility of premature males to sepsis.

The hidden benefits of patient encounters.

Background: Whilst it is widely acknowledged that health care professionals (HCPs) learn from patient encounters, research exploring what HCPs learn from their meetings with patients is relatively sparse, particularly in the context of postgraduate training. Moreover, there are few research studies that examine the contribution of patient encounters to HCP education from both HCP and patient perspectives. This study set out to explore HCPs learning from patient encounters from both HCP and patient perspectives.

Paediatric management of a tuberculosis outbreak in an Irish Direct Provision Centre.

Direct Provision in Ireland provides basic needs of food and shelter to asylum seekers while their refugee status is processed. There are a number of issues associated with living conditions in these centres including overcrowding, nutrition and play facilities (1,2). This article outlines the protocol of contact tracing and management of latent tuberculosis infection in the paediatric setting after a confirmed adult case of tuberculosis within a Direct Provision centre in Ireland.

Exploring parental experiences of virtual paediatric neurodevelopmental consultations.

Objective: The coronavirus pandemic resulted in dramatic changes and challenges to healthcare practices. We endeavoured to establish the experiences of families of children attending a neurodevelopmental service after a transition to virtual consultations.

Methods: Anonymous questionnaires were posted to parents of children registered in virtual clinics over a 10-week period.

Challenges in developing a consensus definition of neonatal sepsis.

Sepsis remains a leading cause of morbidity and mortality in the neonatal population, and at present, there is no unified definition of neonatal sepsis. Existing consensus sepsis definitions within paediatrics are not suited for use in the NICU and do not address sepsis in the premature population. Many neonatal research and surveillance networks have criteria for the definition of sepsis within their publications though these vary greatly and there is typically a heavy emphasis on microbiological culture.