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Background/objectives: Acute pancreatitis (AP) is one of the most common gastrointestinal disorders often requiring hospitalization. Frequent aetiologies are gallstones and alcohol abuse. In contrast to chronic pancreatitis (CP) few robust genetic associations have been described. Here we analysed whether common variants in the CLDN2-MORC4 and the PRSS1-PRSS2 locus that increase recurrent AP and CP risk associate with AP.
Methods: We screened 1462 AP patients and 3999 controls with melting curve analysis for SNPs rs10273639 (PRSS1-PRSS2), rs7057398 (RIPPLY), and rs12688220 (MORC4). Calculations were performed for the overall group, aetiology, and gender sub-groups. To examine genotype-phenotype relationships we performed several meta-analyses.
Results: Meta-analyses of all AP patients depicted significant (p-value < 0.05) associations for rs10273639 (odds ratio (OR) 0.88, 95% confidence interval (CI) 0.81-0.97, p-value 0.01), rs7057398 (OR 1.27, 95% CI 1.07-1.5, p-value 0.005), and rs12688220 (OR 1.32, 95% CI 1.12-1.56, p-value 0.001). For the different aetiology groups a significant association was shown for rs10273639 (OR 0.76, 95% CI 0.63-0.92, p-value 0.005), rs7057398 (OR 1.43, 95% CI 1.07-1.92, p-value 0.02), and rs12688220 (OR 1.44, 95% CI 1.07-1.93, p-value 0.02) in the alcoholic sub-group only.
Conclusions: The association of CP risk variants with different AP aetiologies, which is strongest in the alcoholic AP group, might implicate common pathomechanisms most likely between alcoholic AP and CP.
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http://dx.doi.org/10.1016/j.pan.2018.05.486 | DOI Listing |
Int J Biol Macromol
September 2025
Department of Biomedical Science, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, 110019, New Delhi, India. Electronic address:
Mycobacteriophage-encoded LysinB enzymes target mycolyl ester linkages in mycolyl-arabinogalactan-peptidoglycan of mycobacterium hosts and generally exhibit a globular architecture. Here, we present the structural and functional characterization of a novel Mycobacterium fortuitum prophage-encoded modular LysinB (LysinB_MF), which contains the α/β hydrolase domain and a distinct peptidoglycan-binding domain (PGBD). The enzyme's active site features the conserved Ser-Asp-His catalytic triad common to esterases and forms a funnel-like topology.
View Article and Find Full Text PDFJ Bone Miner Res
September 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States.
Autosomal Dominant Osteopetrosis (ADO) is a rare, osteosclerotic disorder usually caused by missense variants in the CLCN7 gene, resulting in impaired osteoclastic bone resorption. Penetrance is incomplete and disease severity varies widely, even among relatives within the same family. Although ADO can cause visual loss, osteonecrosis, osteomyelitis, and bone marrow failure, the most common complication of ADO is fracture.
View Article and Find Full Text PDFJACC Case Rep
September 2025
Department of Cardiology, Christian Medical College and Hospital, Vellore, India.
Background: Iatrogenic aortocoronary dissection (IACD) is a rare but potentially life-threatening complication of percutaneous coronary intervention or diagnostic angiography. The increasing complexity of interventions, especially cases involving chronic total occlusions, calcified lesions, and aggressive balloon dilation, has heightened the risk of IACD. It is often underreported, with an estimated incidence of 0.
View Article and Find Full Text PDFJ Allergy Clin Immunol Pract
September 2025
Department of Clinical Immunology, Centro Universitario Faculdade de Medicina do ABC, Santo André, SP, Brazil.
Background: Hereditary angioedema (HAE) is a rare autosomal dominant disorder with a prevalence of 1:50,000 individuals. Delayed diagnosis and deaths from asphyxia still occur.
Objective: To identify knowledge and management gaps regarding clinical, genetic, and therapeutic aspects of HAE in Brazil, aiming to improve patient care and outcomes.
Biol Psychiatry Cogn Neurosci Neuroimaging
September 2025
Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center. Electronic address:
Background: The interthalamic adhesion (IA) is a midline structure connecting the left and right thalamus that typically develops during the 2 trimester of pregnancy. Missing and smaller IA has been linked to neurodevelopmental disorders, including schizophrenia, and subtle deficits in cognition. However, findings are inconsistent and the association between IA and other anatomical variants linked to atypical brain development in schizophrenia, including incomplete hippocampal inversion (IHI), is unclear.
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