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Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.
World J Pediatr
January 2025
The First Hospital of Peking University, Beijing, China.
Background: Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis.
View Article and Find Full Text PDFInterlaboratory assays from the fungal PCR Initiative and the Modimucor Study Group to improve qPCR detection of Mucorales DNA in serum: one more step toward standardization.
J Clin Microbiol
December 2024
Chrono-environnement UMR6249, CNRS, University of Franche-Comté, Besançon, Bourgogne-Franche-Comté, France.
Unlabelled: The aim of this study was to identify parameters influencing DNA extraction and PCR amplification efficiencies in an attempt to standardize Mucorales qPCR. The Fungal PCR Initiative Mucorales Laboratory Working Group distributed two panels of simulated samples to 26 laboratories: Panel A (six sera spiked with Mucorales DNA and one negative control serum) and Panel B (six Mucorales DNA extracts). Panel A underwent DNA extraction in each laboratory according to the local procedure and were sent to a central laboratory for testing using three different qPCR techniques: one in-house qPCR assay and two commercial assays (MucorGenius and Fungiplex).
View Article and Find Full Text PDFThe combination of physiology and machine learning for prediction of CPAP pressure and residual AHI in OSA.
J Clin Sleep Med
January 2025
Division of Pulmonary, Critical Care, and Sleep Medicine, UC San Diego, San Diego, CA.
Continuous positive airway pressure (CPAP) is the treatment of choice for obstructive sleep apnea (OSA); however some people have residual respiratory events or require significantly higher CPAP pressure while on therapy. Our objective was to develop predictive models for CPAP outcomes and assess whether the inclusion of physiological traits enhances prediction. We constructed predictive models from baseline information for subsequent residual apnea-hypopnea index (AHI) and optimal CPAP pressure.
View Article and Find Full Text PDFTarIKGC: A Target Identification Tool Using Semantics-Enhanced Knowledge Graph Completion with Application to CDK2 Inhibitor Discovery.
J Med Chem
January 2025
State Key Laboratory of Anti-Infective Drug Discovery and Development, School of Pharmaceutical Sciences, Sun Yat-sen University, Guangzhou 510006, China.
Target identification is a critical stage in the drug discovery pipeline. Various computational methodologies have been dedicated to enhancing the classification performance of compound-target interactions, yet significant room remains for improving the recommendation performance. To address this challenge, we developed TarIKGC, a tool for target prioritization that leverages semantics enhanced knowledge graph (KG) completion.
View Article and Find Full Text PDFTwenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease.
Hum Gene Ther
January 2025
Department of Genetic Medicine, Weill Cornell Medical College, New York, New York, USA.
CLN2 disease (late infantile neuronal ceroid lipofuscinosis) is an autosomal recessive, neurodegenerative lysosomal storage disease that results from loss of function mutations in the gene, which encodes tripeptidyl peptidase 1. It affects the central nervous system (CNS) with progressive neurodegeneration and early death, typically at ages from 8 to 12 years. Twenty years ago, our phase I clinical trial treated subjects with CLN2 disease by a catheter-based CNS administration of an adeno-associated virus vector serotype 2 (AAV2) expressing the gene.
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