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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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Minority stressors, traumatic events, and associations with mental health and school climate among gender and sexuality diverse young people in Australia: Findings from a nationally representative cohort studyPopulation-level, nationally representative data on the prevalence of minority stressors and traumatic events, mental ill-health effects, and the preventative utility of school climate, among gender and sexuality diverse young people in Australia, is significantly lacking.
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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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Efficacy of the MiniMed™ 670G hybrid closed loop system in managing postprandial glucose excursion with high protein high fat foods in children and adolescents under free-living conditionsHigh protein high fat meals are considered “difficult” foods because they can cause prolonged hyperglycemia after ingestion. The potential of hybrid closed loop therapy in managing postprandial glucose excursions with these difficult foods remains unknown. This pilot study aimed to explore the impact of manual mode in standard insulin pump therapy and auto mode with hybrid closed loop pump therapy in managing glucose excursions caused by HPHF foods and to obtain feedback from families about each mode.
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A Phase 3, Randomized, Double-Blind, Comparator-Controlled Study to Evaluate Safety, Tolerability, and Immunogenicity of V114, a 15-Valent Pneumococcal Conjugate Vaccine, in Allogeneic Hematopoietic Cell Transplant Recipients (PNEU-STEM)Individuals who receive allogeneic hematopoietic cell transplant (allo-HCT) are immunocompromised and at high risk of pneumococcal infections, especially in the months following transplant. This study evaluated the safety and immunogenicity of V114 (VAXNEUVANCE; Merck, Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc., Rahway, NJ, USA), a 15-valent pneumococcal conjugate vaccine (PCV), when given to allo-HCT recipients.
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Systemic perturbations in amino acids/amino acid derivatives and tryptophan pathway metabolites associated with murine influenza A virus infectionInfluenza A virus is the only influenza virus causing flu pandemics. Influenza is a highly contagious disease that can be deadly, especially in high-risk groups. Worldwide, these annual epidemics are estimated to result in about 3 to 5 million cases of severe illness and in about 290,000 to 650,000 respiratory deaths.
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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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Global prevalence of psychiatric in- and out-patient treatment following hospital-presenting self-harm: a systematic review and meta-analysisHospital-treated self-harm is common, costly, and strongly associated with suicide. Whilst effective psychosocial interventions exist, little is known about what key factors might modify the clinical decision to refer an individual to psychiatric in- and/or out-patient treatment following an episode of hospital-treated self-harm.
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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.