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Integrating machine learning with mendelian randomization for unveiling causal gene networks in glioblastoma multiforme.
Discov Oncol
January 2025
Department of Medical Imaging, Shenzhen Longhua District Key Laboratory of Neuroimaging, Shenzhen Longhua District Central Hospital, Shenzhen, 518110, China.
Background: Glioblastoma multiforme (GBM) is a highly aggressive brain cancer with poor prognosis and limited treatment options. Despite advances in understanding its molecular mechanisms, effective therapeutic strategies remain elusive due to the tumor's genetic complexity and heterogeneity.
Methods: This study employed a comprehensive analysis approach integrating 113 machine learning algorithms with Mendelian Randomization (MR) analysis to investigate the molecular underpinnings of GBM.
Investigating frontoparietal networks and activation in children with mathematics learning difficulties: Cases with different deficit profiles.
Eur J Neurosci
January 2025
National Institute of Education, Nanyang Technological University, Singapore.
Approximately 15%-20% of school-aged children suffer from mathematics learning difficulties (MLD). Most children with developmental dyscalculia (DD) or MLD also have comorbid cognitive deficits. Recent literature suggests that research should focus on uncovering the neural underpinnings of MLD across more inclusive samples, rather than limiting studies to pure cases of DD or MLD with highly stringent inclusion criteria.
View Article and Find Full Text PDFComplications of Post-Roux-en-Y Gastric Bypass: A Case of Excluded Stomach Perforation.
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Trauma and Acute Care Surgery, Northeast Georgia Medical Center Gainesville, Gainesville, USA.
Roux-en-Y gastric bypass (RYGB) is a common surgical treatment for morbid obesity, but rare complications involving the excluded gastric remnant can pose significant challenges. A 65-year-old female with a history of RYGB presented with sudden onset of left upper quadrant abdominal pain, bloating, nausea, and loss of appetite. Laboratory tests revealed leukocytosis.
View Article and Find Full Text PDFRNA-sequencing has improved the diagnostic yield of individuals with rare diseases. Current analyses predominantly focus on identifying outliers in single genes that can be attributed to cis-acting variants within or near that gene. This approach overlooks causal variants with trans-acting effects on splicing transcriptome-wide, such as variants impacting spliceosome function.
View Article and Find Full Text PDFAutomated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM).
Open Heart
January 2025
Department of Internal Medicine I, Universitätsklinikum Würzburg, Würzburg, BY, Germany
Background And Aims: Hypertrophic cardiomyopathy (HCM) has various aetiologies, including genetic conditions like Fabry disease (FD), a lysosomal storage disorder. FD prevalence in high-risk HCM populations ranges from 0.3% to 11.
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