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Use of high-resolution fluorescence in situ hybridization for fast and robust detection of SARS-CoV-2 RNAs

Early, rapid, and accurate diagnostic tests play critical roles not only in the identification/management of individuals infected by SARS-CoV-2, but also in fast and effective public health surveillance, containment, and response. Our aim has been to develop a fast and robust fluorescence in situ hybridization (FISH) detection method for detecting SARS-CoV-2 RNAs by using an HEK 293 T cell culture model. 

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review

A growing number of genes have been identified in individuals with cerebral palsy; however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. 

Fine-grained Fidgety Movement Classification using Active Learning

Typically developing infants, between the corrected age of 9-20 weeks, produce fidgety movements. These movements can be identified with the General Movement Assessment, but their identification requires trained professionals to conduct the assessment from video recordings.

Early Dysglycemia Is Detectable Using Continuous Glucose Monitoring in Very Young Children at Risk of Type 1 Diabetes

Continuous glucose monitoring (CGM) can detect early dysglycemia in older children and adults with presymptomatic type 1 diabetes and predict risk of progression to clinical onset. However, CGM data for very young children at greatest risk of disease progression are lacking. 

Costs of primary healthcare presentations and hospital admissions for scabies and related skin infections in Fiji, 2018–2019

Scabies and related bacterial skin and soft tissue infections are highly prevalent in many tropical, low- and middle-income settings. These skin conditions contribute to higher healthcare costs and burdens on healthcare systems. 

Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemia

There are few options for patients with relapse/refractory B-cell acute lymphoblastic leukemia, thus this is a major area of unmet medical need. Here, we reveal that inclusion of a poison exon in RBM39, which could be induced both by CDK9 or CDK9 independent CMGC (cyclin-dependent kinases, mitogen-activated protein kinases, glycogen synthase kinases, CDC-like kinases) kinase inhibition, is recognized by the nonsense-mediated mRNA decay pathway for degradation.

Short-term outcomes in infants following general anesthesia with low-dose sevoflurane/dexmedetomidine/remifentanil versus standard dose sevoflurane (The TREX trial)

The Trial Remifentanil DEXmedetomidine trial aimed to determine if, in children < 2 years old, low-dose sevoflurane/dexmedetomidine/remifentanil anesthesia  is superior to standard dose sevoflurane anesthesia in terms of global cognitive function at 3 years of age. 

Plasma adenosine deaminase-1 and -2 activities are lower at birth in Papua New Guinea than in The Gambia but converge over the first weeks of life

Dynamic cellular and molecular adaptations in early life significantly impact health and disease. Upon birth, newborns are immediately challenged by their environment, placing urgent demands on the infant immune system. 

Advancing Impactful Research for Adolescent Health and Wellbeing: Key Principles and Required Technical Investments

Substantial progress in adolescent health research has been made over recent decades, but important knowledge gaps remain.

Childhood leukaemia in Down's syndrome primed by blood-cell bias

An in-depth investigation of gene regulation and cell populations at sites of fetal blood-cell production provides clues as to why children with Down’s syndrome are predisposed to developing leukaemia.