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Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.
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Acute Lymphoblastic Leukemia in Infants: A Distinctive, High-Risk Subtype of Childhood Acute Lymphoblastic LeukemiaAcute lymphoblastic leukemia (ALL) in infants younger than 1 year of age is an aggressive, high-risk subtype of childhood ALL. Infant ALL with KMT2A-r is characteristically poorly responsive to chemotherapy and hematopoietic stem cell transplantation. New strategies, such as molecularly targeted therapies and immunotherapies, are in development and show promise in preclinical models and early phase studies.
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Status epilepticus following vaccination in children aged ≤24 months: A five-year retrospective observational studyStatus epilepticus is associated with significant morbidity and mortality. While vaccine-proximate status epilepticus (VP-SE) has rarely been associated with cases of Dravet syndrome, it is not known whether VP-SE differs clinically from non-vaccine proximate status epilepticus (NVP-SE).
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Primum non nocere (“first do no harm”) with oxygen therapyBritta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant
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Effects of Dietary Fat and Protein on Glucoregulatory Hormones in Adolescents and Young Adults With Type 1 DiabetesDietary fat and protein impact postprandial hyperglycemia in people with type 1 diabetes, but the underlying mechanisms are poorly understood. Glucoregulatory hormones are also known to modulate gastric emptying and may contribute to this effect.
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Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiencyWe aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.
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Efficacy of the adjuvanted subunit protein COVID-19 vaccine, SCB-2019: a phase 2 and 3 multicentre, double-blind, randomised, placebo-controlled trialA range of safe and effective vaccines against SARS CoV 2 are needed to address the COVID 19 pandemic. We aimed to assess the safety and efficacy of the COVID-19 vaccine SCB-2019.
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Lipopolysaccharide-induced interferon response networks at birth are predictive of severe viral lower respiratory infections in the first year of lifeAppropriate innate immune function is essential to limit pathogenesis and severity of severe lower respiratory infections (sLRI) during infancy, a leading cause of hospitalization and risk factor for subsequent asthma in this age group.
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Pediatric pineoblastoma: A pooled outcome study of North American and Australian therapeutic dataPineoblastoma is a rare brain tumor usually diagnosed in children. Given its rarity, no pineoblastoma-specific trials have been conducted. Studies have included pineoblastoma accruing for other embryonal tumors over the past 30 years.
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Resilience and Posttraumatic Growth after Burn: A Review of Barriers, Enablers, and Interventions to Improve Psychological RecoveryBurn injuries are traumatic experiences that can detrimentally impact an individual’s psychological and emotional wellbeing. Despite this, some survivors adapt to psychosocial challenges better than others despite similar characteristics relating to the burn.