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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.
A deep intronic variant associated with X-linked hypophosphatemia in a Finnish family.
JBMR Plus
February 2025
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal gene, but autosomal dominant and recessive forms also exist. We investigated a Finnish family in which the son (index, 29 yr) and mother (56 yr) had hypophosphatemia since childhood.
View Article and Find Full Text PDFBiological control of bacterial leaf blight (BLB) in rice-A sustainable approach.
Heliyon
January 2025
Centre for Agriculture and Bioscience International (CABI), New Delhi, 110012, India.
Bacterial leaf blight (BLB) in rice, caused by the pathogen pv. , is a significant agricultural problem managed through chemical control and cultivating rice varieties with inherent resistance to the bacterial pathogen. Research has highlighted the potential of using antagonistic microbes which can suppress the BLB pathogen through the production of secondary metabolites like siderophores, rhamnolipids, and hydroxy-alkylquinolines offering a sustainable alternative for BLB management.
View Article and Find Full Text PDF: emerging challenges in pathogenesis and drug resistance.
Future Microbiol
January 2025
Infectious Diseases Department, The First Hospital of China Medical University, Shenyang, Liaoning, China.
() is an opportunistic pathogenic fungus that often causes severe infections in immunosuppressed patients. Among species, is the most pathogenic and lethal species. Current research faces challenges related to unknown pathogenic mechanisms, complex resistance mechanisms, insufficiently rapid and accurate diagnostic methods, and insufficient research on susceptibility to infection.
View Article and Find Full Text PDFTreating people who have experienced deep and prolonged developmental trauma, that is, complex post-traumatic stress disorder (cPTSD), can be challenging given the complexity and severity of their presentations. The main features of complex post-traumatic stress disorder, that is, affective and behavioral dysregulation, altered self-experience and identity disturbances, relational difficulties, negative self-concepts, and negative pathogenic beliefs, are, at the same time, therapeutic goals and obstacles to treatment. Therefore, clinicians must be aware of these difficulties in order to identify them and be ready to treat them when they arise during therapy with the same client.
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