A new study in this issue of Cell Host & Microbe from Huang et al. provides important insights into the global epidemiology of human-infectious Cryptosporidium and mechanisms leading to the rapid emergence and rise to dominance of new, possibly more virulent, parasite strains.
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| http://dx.doi.org/10.1016/j.chom.2022.12.012 | DOI Listing |
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Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent Gene Variant.
Neurol Genet
February 2025
Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA; and.
Objectives: We detail a case of recurrent, postinfectious, cerebellar ataxia associated with a likely pathogenic previously documented gene variant in .
Methods: The patient was identified after her second hospitalization for postinfectious cerebellar ataxia. Genetic testing was performed after discharge.
Novel nonsense mutation in gene identified by whole-genome sequencing in infant with epilepsy disorder: A case report.
Heliyon
January 2025
Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay Batyr Ave 53, Astana, 010000, Kazakhstan.
Epilepsy is one of the most common neurological disorders affecting approximately 50 million people worldwide. It impacts people of all genders and ages, but evidence suggests a higher incidence rate in children and the elderly. Given that childhood epilepsy has the risk of causing developmental epileptic encephalopathy, which is associated with intellectual, behavioral, and/or motor disabilities, proper assessment of children with new-onset epilepsy at an early stage is essential to prevent threats affecting neurodevelopmental processes.
View Article and Find Full Text PDFCracking the code: lncRNA-miRNA-mRNA integrated network analysis unveiling lncRNAs as promising non-invasive NAFLD biomarkers toward precision diagnosis.
Comput Biol Chem
January 2025
Institute of Global Health and Human Ecology (IGHHE), School of Sciences and Engineering, The American University in Cairo, New Cairo 11835, Egypt. Electronic address:
Background: Non-alcoholic fatty liver disease (NAFLD) involves abnormal fat accumulation in the liver, mainly as triglycerides. It ranges from steatosis to non-alcoholic steatohepatitis (NASH), which can lead to inflammation, cellular damage, liver fibrosis, cirrhosis, or hepatocellular carcinoma (HCC). Long non-coding RNAs (lncRNAs) are crucial for regulating gene expression across various conditions.
View Article and Find Full Text PDFApplication of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population.
Gac Med Mex
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Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.
Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.
Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.
Examination of non-conventional dysplasias adjacent to colorectal adenocarcinoma in patients with IBD.
Pathol Oncol Res
January 2025
Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
Objective: Recently, several non-conventional variants of IBD-associated dysplasia have been described; however, their prevalence in Central-Eastern Europe is unknown. We aimed to perform a retrospective pilot study by re-evaluating several IBD-associated adenocarcinoma cases to survey the incidence of adjacent non-conventional dysplasia and validate that recent North American findings may apply to a European population.
Methods: Retrospectively, 28 randomly chosen cases of IBD-associated adenocarcinomas diagnosed between 2010 and 2022 were re-evaluated.
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