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Bacterial sensor evolved by decreasing complexity.
Proc Natl Acad Sci U S A
February 2025
Department of Biotechnology and Environmental Protection, Estación Experimental del Zaidín, Consejo Superior de Investigaciones Científicas, Granada 18008, Spain.
Bacterial receptors feed into multiple signal transduction pathways that regulate a variety of cellular processes including gene expression, second messenger levels, and motility. Receptors are typically activated by signal binding to ligand-binding domains (LBDs). Cache domains are omnipresent LBDs found in bacteria, archaea, and eukaryotes, including humans.
View Article and Find Full Text PDFCase Report: Neonatal onset intractable diarrhea and hypoproteinemia due to intestinal malrotation and chronic midgut volvulus.
Front Pediatr
January 2025
Children's Hospital, Fudan University, Shanghai, China.
Congenital diarrhea and enteropathies (CODEs) are a rare heterogeneous group of inherited disorders that typically present with severe chronic diarrhea during the first weeks of life. As a broad range of illnesses can present similarly in infants, establishing a definitive cause for CODEs is challenging. In this report, two infants were suspected to have CODE, with neonatal-onset chronic diarrhea and protein-losing enteropathy finally found to be due to intestinal malrotation and chronic midgut volvulus.
View Article and Find Full Text PDFIncreased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).
Pediatr Rheumatol Online J
January 2025
Laboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.
Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.
Is Ockham's razor losing its edge? New perspectives on the principle of model parsimony.
Proc Natl Acad Sci U S A
February 2025
Department of Computer Science, University of Manchester, Manchester M13 9PL, United Kingdom.
The preference for simple explanations, known as the parsimony principle, has long guided the development of scientific theories, hypotheses, and models. Yet recent years have seen a number of successes in employing highly complex models for scientific inquiry (e.g.
View Article and Find Full Text PDFNew onset of protein-losing enteropathy in a patient with Fontan circulation after COVID-19 vaccination: dread the cure or the disease?
Cardiol Young
January 2025
Adult Congenital Heart Centre and National Centre for Pulmonary Hypertension, Royal Brompton and Harefield Hospitals, Guy's and St Thomas's NHS Foundation Trust, Imperial College, London, UK.
We present the case of a 31-year-old female with Fontan circulation who developed signs of protein-losing enteropathy 10 days after second COVID-19 vaccination. After standard investigations for identification of potential triggers for protein-losing enteropathy, we concluded that coronavirus disease 2019 (COVID-19) booster vaccination could have been the most probable underlying trigger. Prompt investigation of new symptoms post-vaccination in high-risk patients is necessary.
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