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The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmapIn recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases.
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The Respiratory Microbiome in Paediatric Chronic Wet Cough: What Is Known and Future DirectionsChronic wet cough for longer than 4 weeks is a hallmark of chronic suppurative lung diseases, including protracted bacterial bronchitis, and bronchiectasis in children. Severe lower respiratory infection early in life is a major risk factor of PBB and paediatric bronchiectasis.
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State transitions across the Strep A disease spectrum: scoping review and evidence gapsThe spectrum of diseases caused by Streptococcus pyogenes (Strep A) ranges from superficial to serious life-threatening invasive infections. We conducted a scoping review of published articles between 1980 and 2021 to synthesize evidence of state transitions across the Strep A disease spectrum. We identified 175 articles reporting 262 distinct observations of Strep A disease state transitions.
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Young adult outcomes following premature birth: A Western Australian experienceChildhood outcomes following preterm birth are widely published, however long-term adult outcomes are less well described. We aimed to determine the quality of life and burden of co-morbidities experienced by preterm-born young adults in Western Australia.
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Parent-observed thematic data on quality of life in children with autism spectrum disorderParent observations provide an initial framework for understanding quality of life in autism spectrum disorder
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Lessons learned in the development of sustained release penicillin drug delivery systems for the prophylactic treatment of rheumatic heart disease (RHD)The current prophylactic treatment to prevent rheumatic heart disease requires four-weekly intramuscular injection of a suspension of the poorly soluble benzathine salt form of penicillin G (BPG) often for more than 10 years. In seeking to reduce the frequency of administration to improve adherence, biodegradable polymer matrices have been investigated.
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Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practicesAttention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome
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Metabolic and Psychological Impact of a Pragmatic Exercise Intervention Program in Adolescent and Young Adult Survivors of Pediatric Cancer-Related Cerebral InsultAdolescent and young adult survivors of childhood brain tumors and cranial irradiation should be screened for metabolic and psychological well-being
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Clinical, Radiologic, Pathologic, and Molecular Characteristics of Long-Term Survivors of Diffuse Intrinsic Pontine GliomaWe report clinical, radiologic, and molecular factors that correlate with survival in children and young adults with diffuse intrinsic pontine glioma
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The importance of the exposome and allostatic load in the planetary health paradigmThe concept of planetary health emphasizes that human health is intricately connected to the health of natural systems within the Earth's biosphere