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Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.
Epilepsia
January 2025
Applied Translational Neurogenomics Group, Vlaams Instituut voor Biotechnology (VIB) Center for Molecular Neurology, VIB, Antwerp, Belgium.
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.
Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.
Synthesis and biological evaluation of MS-347a derivatives against plant pathogenic fungi based on a strategy of gene introduction.
J Pestic Sci
November 2024
Graduate School of Infection Control Sciences, Kitasato University.
Article Synopsis
- The group discovered MS-347a as a new potential fungicide from a mutant strain that has a specific gene inserted.
- They synthesized 11 derivatives to study their antifungal properties, finding that the aldehyde derivative was particularly effective.
- Some acyl derivatives retained antifungal activity even with structural changes, suggesting they might be useful for identifying biological targets.
Platforms for the Search for New Antimicrobial Agents Using In Vivo C. elegans Models.
Acta Naturae
January 2024
Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow, 117997 Russian Federation.
Despite the achievements brought about by high-throughput screening technologies, there is still a lack of effective platforms to be used to search for new antimicrobial drugs. The antimicrobial activity of compounds continues, for the most part, to be assessed mainly using pathogen cultures, a situation which does not make easy a detailed investigation of the molecular mechanisms underlying host-pathogen interactions. testing of promising compounds using chordate models is labor-intensive and expensive and, therefore, is used in preclinical studies of selected drug candidates but not in primary screening.
View Article and Find Full Text PDFDynamic analysis of the epidemiology and pathogen distribution of bronchoalveolar lavage fluid in children with severe pulmonary infection: a retrospective study.
Ital J Pediatr
January 2025
Department of Neonatology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Henan, China.
Background: Severe pulmonary infection is the primary cause of death in children aged < 5 years. The early identification of pathogenic bacteria and targeted anti-infective therapies can significantly improve the prognosis of children with severe infections. This study aims to provide a reference for the rational use of antibiotics at an early stage in children with severe pulmonary infections.
View Article and Find Full Text PDFClinical performance of real-time nanopore metagenomic sequencing for rapid identification of bacterial pathogens in cerebrospinal fluid: a pilot study.
Sci Rep
January 2025
Institute of Emerging Infectious Diseases, Korea University, Seoul, Republic of Korea.
This study aimed to evaluate the usefulness of amplicon-based real-time metagenomic sequencing applied to cerebrospinal fluid (CSF) for identifying the causative agents of bacterial meningitis. We conducted a 16S rRNA amplicon sequencing using a nanopore-based platform, alongside routine polymerase chain reaction (PCR) testing or bacterial culture, to compare its clinical performance in pathogen detection on CSF samples. Among 17 patients, nanopore-based sequencing, multiplex PCR, and bacterial culture detected potential bacterial pathogens in 47.
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