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Surfacing undiagnosed disease: consideration, counting and codingThe diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey.
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Understanding and optimising gratitude interventions: the right methods for the right people at the right timeGratitude has consistently been associated with various beneficial health-related outcomes, including subjective wellbeing, positive mental health, and positive physical health. In light of such effects, positive psychology researchers and practitioners have often implemented gratitude interventions in an attempt to build individuals' orientations toward appreciation and thankfulness. Recent meta-analyses and reviews have revealed, however, that these interventions often have mixed effects on gratitude or other health outcomes.
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
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Airway management in neonates and infants: European Society of Anaesthesiology and Intensive Care and British Journal of Anaesthesia joint guidelinesAirway management is required during general anaesthesia and is essential for life-threatening conditions such as cardiopulmonary resuscitation. Evidence from recent trials indicates a high incidence of critical events during airway management, especially in neonates or infants. It is important to define the optimal techniques and strategies for airway management in these groups.
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Considerations for collecting and analyzing longitudinal data in observational cohort studies of transgender, non-binary, and gender diverse peopleThe health and well-being of transgender, non-binary, and gender-diverse people is receiving increasing attention from epidemiologists and public health researchers, including those utilizing longitudinal observational cohort studies.
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A Maximum Entropy Model of the Distribution of Dengue Serotype in MexicoPathogen strain diversity is an important driver of the trajectory of epidemics. The role of bioclimatic factors on the spatial distribution of dengue virus serotypes has, however, not been previously studied. Hence, we developed municipality-scale environmental suitability maps for the four dengue virus serotypes using maximum entropy modeling.
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The Perth Empathy Scale: Psychometric Properties of the Polish Version and Its Mental Health CorrelatesThe Perth Empathy Scale (PES) is a 20-item self-report questionnaire that assesses people's ability to recognize emotions in others (i.e., cognitive empathy) and vicariously experience other's emotions (i.e., affective empathy), across positive and negative emotions. Originally developed in English, the aim of our study was to introduce the first Polish version of the PES and test its psychometric performance.
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Early Peanut Immunotherapy in Children (EPIC) trial: Protocol for a pragmatic randomised controlled trial of peanut oral immunotherapy in children under 5 years of ageFood allergy is a major public health challenge in Australia. Despite widespread uptake of infant feeding and allergy prevention guidelines the incidence of peanut allergy in infants has not fallen, and prevalence of peanut allergy in school-aged children continues to rise. Therefore, effective and accessible treatments for peanut allergy are required.
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Microevolution and Its Impact on Hypervirulence, Antimicrobial Resistance, and Vaccine Escape in Neisseria meningitidisNeisseria meningitidis is commensal of the human pharynx and occasionally invades the host, causing the life-threatening illness invasive meningococcal disease. The meningococcus is a highly diverse and adaptable organism thanks to natural competence, a propensity for recombination, and a highly repetitive genome.
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Searching for Strep A in the clinical environment during a human challenge trial: a sub-study protocolStreptococcus pyogenes (also known as group A Streptococcus , Strep A) is an obligate human pathogen with significant global morbidity and mortality. Transmission is believed to occur primarily between individuals via respiratory droplets, but knowledge about other potential sources of transmission via aerosols or the environment is limited. Such knowledge is required to design optimal interventions to control transmission, particularly in endemic settings.