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Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del VariantsA 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty.
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Structured exercise programs for higher education students experiencing mental health challenges: background, significance, and implementationThe incidence of mental illness is greatest among young adults, and those enrolled in higher education may be particularly vulnerable compared to the general young adult population. Many higher education institutions employ student support staff tasked with implementing strategies to improve student wellbeing and mental illness.
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Life in a time of COVID: retrospective examination of the association between physical activity and mental well-being in western Australians during and after lockdownThe aim of this study was to examine physical activity and sedentary behaviours during Western Australia's COVID-19 lockdown and their association with mental well-being.
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Genome Sequence of a Lytic Staphylococcus aureus Bacteriophage Isolated from Breast MilkWe identified a double-stranded DNA (dsDNA) bacteriophage appearing to belong to Herelleviridae, genus Kayvirus. The bacteriophage, Biyabeda-mokiny 1, was isolated from breast milk using a clinical isolate of Staphylococcus aureus.
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Immunogenicity and safety of single-dose, 13-valent pneumococcal conjugate vaccine in pediatric and adolescent oncology patientsAll children who are receiving therapy for cancer should receive a single dose of PCV13 as soon as possible after diagnosis, regardless of prior PCV exposure.
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Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorderMothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.
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Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmaniasis in Sudanese patientsUniformly low expression of IFN and IFNGR1 in PKDL skin biopsies could explain parasite persistence
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Reduced forced vital capacity in Aboriginal Australians: Biology or missing evidence?This editorial article addresses chronic obstructive pulmonary disease and lung function testing in Aboriginal Australians.
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Consensus guidelines for the treatment of invasive mould infections in haematological malignancy and haemopoietic stem cell transplantationEvidence-based recommendations for the antifungal management of common, rare and emerging mould infections in both adult and paediatric populations
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Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families?Behavioural differences in children with Autism Spectrum Disorder from simplex and multiplex families