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Rare disease education in Europe and beyond: time to actPeople living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient.
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Research opportunities for the primary prevention and management of acute rheumatic fever and rheumatic heart disease: a National Heart, Lung, and Blood Institute workshop reportPrimary prevention of acute rheumatic fever (ARF) and rheumatic heart disease (RHD) encompasses the timely diagnosis and adequate treatment of the superficial group A Streptococcus (GAS) infections pharyngitis and impetigo. GAS is the only known inciting agent in the pathophysiology of the disease.
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Beta Agonists for Prevention of Respiratory Adverse Events in Children Undergoing Adenotonsillectomy: Long-Acting, Short Acting, or Not ActingAdenotonsillectomy is one of the most common surgical interventions in children, and while generally safe, it is associated with a risk of significant adverse events. In this issue, Kim et al report a prospective randomized controlled study comparing preoperative use of a tulobuterol (longacting beta agonist) dermal patch with placebo on the incidence of perioperative respiratory adverse events (PRAEs) in children undergoing adenotonsillectomy.
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Histo-blood group antigen profile of Australian Aboriginal children and seropositivity following oral rotavirus vaccinationHisto-blood group antigens (HBGAs) may influence immune responses to rotavirus vaccination.
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Cardiometabolic disease risk markers are increased following burn injury in childrenBurn injury in children causes prolonged systemic effects on physiology and metabolism leading to increased morbidity and mortality, yet much remains undefined regarding the metabolic trajectory towards specific health outcomes.
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Simultaneous multiple breath washout and oxygen-enhanced magnetic resonance imaging in healthy adultsLung function testing and lung imaging are commonly used techniques to monitor respiratory diseases, such as cystic fibrosis (CF). The nitrogen (N2) multiple-breath washout technique (MBW) has been shown to detect ventilation inhomogeneity in CF, but the underlying pathophysiological processes that are altered are often unclear.
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Prognostication of treatment non-compliance among patients with multidrug-resistant tuberculosis in the course of their follow-up: a logistic regression–based machine learning algorithmDrug compliance is the act of taking medication on schedule or taking medication as prescribed and obeying other medical instructions. It is the most crucial aspect in the treatment of chronic diseases particularly for patients with multidrug-resistant tuberculosis (MDR-TB). Drug non-compliance is the main reason for causing drug resistance and poor treatment outcomes.
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Maternal Vaccination to Prevent Adverse Pregnancy Outcomes: An Underutilized Molecular Immunological Intervention?Adverse pregnancy outcomes including maternal mortality, stillbirth, preterm birth, intrauterine growth restriction cause millions of deaths each year. More effective interventions are urgently needed. Maternal immunization could be one such intervention protecting the mother and newborn from infection through its pathogen-specific effects.
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Genetic variants of TLR4, including the novel variant, rs5030719, and related genes are associated with susceptibility to clinical malaria in African childrenMalaria is a deadly disease caused by Plasmodium spp. Several blood phenotypes have been associated with malarial resistance, which suggests a genetic component to immune protection.
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Understanding the implementation of health checks in the prevention and early detection of chronic diseases among Aboriginal and Torres Strait Islander people in Australia: a realist review protocolChronic disease remains the leading cause of morbidity and mortality among Aboriginal and Torres Strait Islander peoples in Australia. Regular structured, comprehensive health assessments are available to Aboriginal and Torres Strait Islander people as annual health checks funded through the Medicare Benefits Schedule.