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The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

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.

Geospatial joint modeling of vector and parasite serology to microstratify malaria transmission

The World Health Organization identifies a strong surveillance system for malaria and its mosquito vector as an essential pillar of the malaria elimination agenda. Anopheles salivary antibodies are emerging biomarkers of exposure to mosquito bites that potentially overcome sensitivity and logistical constraints of traditional entomological surveys.

Minimising Adverse Drug Reactions and Verifying Economic Legitimacy-Pharmacogenomics Implementation in Children (MARVEL- PIC): protocol for a national randomised controlled trial

DNA-informed prescribing (termed pharmacogenomics, PGx) is the epitome of personalised medicine. Despite international guidelines existing, its implementation in paediatric oncology remains sparse.

Bacille Calmette-Guérin vaccination to prevent febrile and respiratory illness in adults (BRACE): secondary outcomes of a randomised controlled phase 3 trial

Bacille Calmette-Guérin (BCG) vaccination has off-target (non-specific) effects that are associated with protection against unrelated infections and decreased all-cause mortality in infants. We aimed to determine whether BCG vaccination prevents febrile and respiratory infections in adults.

Modelling respiratory syncytial virus age-specific risk of hospitalisation in term and preterm infants

Respiratory syncytial virus (RSV) is the most common cause of acute lower respiratory infections in children worldwide. The highest incidence of severe disease is in the first 6 months of life, with infants born preterm at greatest risk for severe RSV infections. 

Illuminating mitochondrial translation through mouse models

Mitochondria are hubs of metabolic activity with a major role in ATP conversion by oxidative phosphorylation (OXPHOS). The mammalian mitochondrial genome encodes 11 mRNAs encoding 13 OXPHOS proteins along with 2 rRNAs and 22 tRNAs, that facilitate their translation on mitoribosomes.

Maternal serum unmetabolized folic acid concentration following multivitamin and mineral supplementation with or without folic acid after 12 weeks gestation: A randomized controlled trial

Pregnant women are advised to take folic acid (FA) supplements before conception and during the first trimester of pregnancy. Many women continue FA supplementation throughout pregnancy, and concerns have been raised about associations between excessive FA intake and adverse maternal and child health outcomes.

Biological sex estimation using ancient DNA in Classic Maya contexts: some findings from Naachtun (Guatemala)

Recent advances in paleogenomics have opened up new prospects for the study of ancient burial customs and social structures. In this note, we report on the first results of a program now under way in a small residential compound in Naachtun, Guatemala.

A situational assessment of treatments received for childhood diarrhea in the Federal Republic of Nigeria

We assess progress towards improved case management of childhood diarrhea in Nigeria over a period of targeted health systems reform from 2013 to 2018. Individual and community data from three Demographic and Health Survey rounds are leveraged in a geospatial model designed for stratified estimation by venue of treatment seeking and State.

From speculative to real: Community attitudes towards government COVID-19 vaccine mandates in Western Australia from May 2021 to April 2022

Many governments employed mandates for COVID-19 vaccines, imposing consequences upon unvaccinated people. Attitudes towards these policies have generally been positive, but little is known about how discourses around them changed as the characteristics of the disease and the vaccinations evolved.