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Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems.
Diabetes in pregnancy is associated with increased risk of long-term metabolic disease in the offspring, potentially mediated by in utero epigenetic variation. Previously, we identified multiple differentially methylated single CpG sites in offspring of women with gestational diabetes mellitus, but whether stretches of differentially methylated regions can also be identified in adolescent GDM offspring is unknown.
While undernutrition has been identified as a common risk factor for tuberculosis (TB), its impact on treatment outcomes has yet to be investigated in high TB burden and low-income countries such as Ethiopia. Therefore, this study aimed to investigate the effect of undernutrition on treatment outcomes among patients with TB in northwest Ethiopia.
Children living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families. The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future. This is experienced by the patient as well as by the family.
International and national oncofertility networks, including the US-led Oncofertility Consortium, FertiProtekt, and the Danish Network, have played pivotal roles in advancing the discipline of oncofertility over the last decade. Many other countries lack a shared approach to pediatric oncofertility health service delivery.
People with intellectual disabilities living in group homes often have complex health needs, are high health service users and need support from their service provider to access health services. In Australia, little is known about the types and amounts of these supports.
Atelectasis has been reported in 68 to 100% of children undergoing general anaesthesia, a phenomenon that persists into the recovery period. Children receiving recruitment manoeuvres have less atelectasis and fewer episodes of oxygen desaturation during emergence. The optimal type of recruitment manoeuvre is unclear and may be influenced by the airway device chosen.
Securing an airway enables the oxygenation and ventilation of the lungs and is a potentially life-saving medical procedure. Adverse and critical events are common during airway management, particularly in neonates and infants. The multifactorial reasons for this include patient-dependent, user-dependent and also external factors.
Streptococcus pneumoniae is a leading cause of pneumonia and meningitis worldwide. Many different serotypes co-circulate endemically in any one location. The extent and mechanisms of spread and vaccine-driven changes in fitness and antimicrobial resistance remain largely unquantified.
Otitis media has a high prevalence in childhood, and grommet insertion is the most common surgical treatment for OM. The public health system in Australia faces considerable strains, including high demand for Ear, Nose and Throat specialists. Extending the scope of practice for audiologists to manage post-operative care for children receiving grommets has the potential to alleviate this burden.