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Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two familiesWe report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures.
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The familial risk of infection-related hospitalization in children: A population-based sibling studyTo assess the risk of severe childhood infections within families, we conducted a sibling analysis in a population-based cohort study with genealogical linkage. We investigated the sibling risk of hospitalization with common infections, a marker of severity. We hypothesized that having siblings hospitalized for infection would increase the proband's risk of admission with infection.
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Survival of children and adolescents with intellectual disability following gastrostomy insertionWhilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time
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Whole-cell pertussis vaccine in early infancy for the prevention of allergyThis is a protocol for a Cochrane Review (intervention). The objectives were to assess the efficacy and safety of whole‐cell pertussis (wP) vaccinations in comparison to acellular pertussis (aP) vaccinations in early infancy for the prevention of atopic diseases in children.
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Antimicrobial stewardship in remote primary healthcare across northern AustraliaThe high burden of infectious disease and associated antimicrobial use likely contribute to the emergence of antimicrobial resistance in remote Australian Aboriginal communities. We aimed to develop and apply context-specific tools to audit antimicrobial use in the remote primary healthcare setting.
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Ovalbumin in breast milk is associated with a decreased risk of IgE-mediated egg allergy in childrenShowed for the first time that the presence of an egg-derived allergen in breast milk is associated with a reduced risk of egg allergy in children at 2.5 years of age
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What’s inside the box? Or shall we think outside the box?With the deadly and highly transmissible SARS-CoV-2 virus causing the COVID-19 pandemic, there is global concern about the danger of contaminating healthcare workers (HCW), particularly during airway management of infected patients.
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Global molecular diversity of RSV – the “INFORM RSV” studyRespiratory syncytial virus (RSV) is a global cause of severe respiratory morbidity and mortality in infants. While preventive and therapeutic interventions are being developed, including antivirals, vaccines and monoclonal antibodies, little is known about the global molecular epidemiology of RSV. INFORM is a prospective, multicenter, global clinical study performed by ReSViNET to investigate the worldwide molecular diversity of RSV isolates collected from children less than 5 years of age.
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An international cohort study of birth outcomes associated with hospitalized acute respiratory infection during pregnancyAcute respiratory or febrile illness hospitalization during pregnancy was associated with increased risk of preterm birth and low birthweight birth
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Asbestos-related diseasesThe main issues that led to the ban on asbestos in industry are those of malignancy: lung cancer, malignant mesothelioma of the pleura and of the peritoneum