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JOURNAL ARTICLE
Ahmad M Hassan, Tom K Lin, Milton T Smith, Lindsey Hornung, Maisam Abu-El-Haija, Jaimie D Nathan, David S Vitale
OBJECTIVES: Post-ERCP pancreatitis (PEP) is the most common complication of endoscopic retrograde cholangiopancreatography (ERCP). Limited existing data suggest that prophylactic pancreatic duct (PD) stenting in pediatric patients may increase the risk of PEP. The aim of this study is to identify factors associated with PEP in pediatric patients. METHODS: Patients at a single institution who underwent ERCP between 2012-2020 were retrospectively reviewed. Patient and procedure-related factors were collected...
March 17, 2023: Journal of Pediatric Gastroenterology and Nutrition
#22
JOURNAL ARTICLE
T A Samgina
The study of genetic and environmental factors on the risk of acute alcoholic-alimentary pancreatitis (AАAР) is especially relevant to interpret individual links of pathogenesis, to reduce the incidence by eliminating the impact of harmful factors and improve the quality of life of the population through the introduction of optimal nutrition, and a healthy lifestyle, which is especially important for carriers of risk genotypes. The aim of the research was to study the influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of АAР...
2023: Voprosy Pitaniia
#23
JOURNAL ARTICLE
Zsanett Jancsó, Nataly C Morales Granda, Alexandra Demcsák, Miklós Sahin-Tóth
Mutation p.R122H in human cationic trypsinogen (PRSS1) is the most frequently identified cause of hereditary pancreatitis. The mutation blocks protective degradation of trypsinogen by chymotrypsin C (CTRC), which involves an obligatory trypsin-mediated cleavage at Arg122. Previously, we found that C57BL/6N mice are naturally deficient in CTRC, and trypsinogen degradation is catalyzed by chymotrypsin B1 (CTRB1). Here, we used biochemical experiments to demonstrate that the cognate p.R123H mutation in mouse cationic trypsinogen (isoform T7) only partially prevented CTRB1-mediated degradation...
February 9, 2023: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
#24
REVIEW
Guillaume Le Cosquer, Charlotte Maulat, Barbara Bournet, Pierre Cordelier, Etienne Buscail, Louis Buscail
Chronic pancreatitis is one of the main risk factors for pancreatic cancer, but it is a rare event. Inflammation and oncogenes work hand in hand as key promoters of this disease. Tobacco is another co-factor. During alcoholic chronic pancreatitis, the cumulative risk of cancer is estimated at 4% after 15 to 20 years. This cumulative risk is higher in hereditary pancreatitis: 19 and 12% in the case of PRSS1 and SPINK1 mutations, respectively, at an age of 60 years. The diagnosis is difficult due to: (i) clinical symptoms of cancer shared with those of chronic pancreatitis; (ii) the parenchymal and ductal remodeling of chronic pancreatitis rendering imaging analysis difficult; and (iii) differential diagnoses, such as pseudo-tumorous chronic pancreatitis and paraduodenal pancreatitis...
January 26, 2023: Cancers
#25
JOURNAL ARTICLE
Kamaraj Elango, Thirumalaisamy Karuthadurai, Arumugam Kumaresan, Manish Kumar Sinha, John Peter Ebenezer Samuel King, Pradeep Nag, Ankur Sharma, Kathan Raval, Nilendu Paul, Thirumala Rao Talluri
UNLABELLED: Seminal plasma proteins are the major extrinsic factors that can modulate the sperm quality and functions. The present study was carried out to compare the proteomic profiles of seminal plasma from breeding bulls producing good and poor quality semen in an effort to understand the possible proteins associated with semen quality. A total of 910 and 715 proteins were detected in the seminal plasma of poor and good quality semen producing bulls, respectively. A total of 705 proteins were common to both the groups, in which 380 proteins were upregulated and 89 proteins were downregulated in the seminal plasma of poor quality semen, while 236 proteins were co-expressed...
February 2023: 3 Biotech
#26
JOURNAL ARTICLE
Saeko Hirai, Mitsuyoshi Suzuki, Yumiko Sakurai, Satoshi Nakano, Kei Minowa, Hidetake Eguchi, Yasushi Okazaki, Toshiaki Shimizu
OBJECTIVES: Recently, a genetic risk for chronic pancreatitis (CP) was found to be conferred by pathogenic variants in the transient receptor potential cation channel, subfamily V, member 6 (TRPV6). Interestingly, 20-57% of patients with functionally defective TRPV6 variants have other susceptibility genes such as cationic trypsinogen (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), chymotrypsin C (CTRC), cystic fibrosis transmembrane conductance regulator (CFTR), and carboxypeptidase A1 (CPA1)...
January 4, 2023: Journal of Pediatric Gastroenterology and Nutrition
#27
JOURNAL ARTICLE
Emmanuelle Masson, Maren Ewers, Sumit Paliwal, Kiyoshi Kume, Virginie Scotet, David N Cooper, Vinciane Rebours, Louis Buscail, Karen Rouault, Amandine Abrantes, Lina Aguilera Munoz, Jérémie Albouys, Laurent Alric, Xavier Amiot, Isabelle Archambeaud, Solène Audiau, Laetitia Bastide, Julien Baudon, Guy Bellaiche, Serge Bellon, Valérie Bertrand, Karine Bideau, Kareen Billiemaz, Claire Billioud, Sabine Bonnefoy, Corinne Borderon, Barbara Bournet, Estelle Breton, Mathias Brugel, Louis Buscail, Guillaume Cadiot, Marine Camus, Marine Carpentier-Pourquier, Patrick Chamouard, Ulriikka Chaput, Jian-Min Chen, Franck Cholet, Dragos Marius Ciocan, Christine Clavel, Benoit Coffin, Laura Coimet-Berger, Simona Cosconea, Isabelle Creveaux, Adrian Culetto, Oussama Daboussi, Louis De Mestier, Thibault Degand, Christelle D'engremont, Bernard Denis, Solène Dermine, Desgrippes, Augustin Drouet D'Aubigny, Raphaël Enaud, Alexandre Fabre, Claude Férec, Dany Gargot, Eve Gelsi, Elena Gentilcore, Rodica Gincul, Emmanuelle Ginglinger-Favre, Marc Giovannini, Cécile Gomercic, Hannah Gondran, Thomas Grainville, Philippe Grandval, Denis Grasset, Stéphane Grimaldi, Sylvie Grimbert, Hervé Hagege, Sophie Heissat, Olivia Hentic, Anne Herber-Mayne, Marc Hervouet, Solene Hoibian, Jérémie Jacques, Bénédicte Jais, Mehdi Kaassis, Stéphane Koch, Elodie Lacaze, Joël Lacroute, Thierry Lamireau, Lucie Laurent, Xavier Le Guillou, Marc Le Rhun, Sarah Leblanc, Philippe Levy, Astrid Lievre, Diane Lorenzo, Frédérique Maire, Kévin Marcel, Emmanuelle Masson, Jacques Mauillon, Stéphanie Morgant, Driffa Moussata, Nelly Muller, Sophie Nambot, Bertrand Napoleon, Anne Olivier, Maël Pagenault, Anne-Laure Pelletier, Olivier Pennec, Fabien Pinard, Mathieu Pioche, Bénédicte Prost, Lucille Queneherve, Vinciane Rebours, Noemi Reboux, Samia Rekik, Ghassan Riachi, Barbara Rohmer, Bertrand Roquelaure, Isabelle Rosa Hezode, Florian Rostain, Jean-Christophe Saurin, Laure Servais, Roxana Stan-Iuga, Clément Subtil, Jérémy Tanneche, Charles Texier, Lucie Thomassin, David Tougeron, Lucine Vuitton, Timothée Wallenhorst, Marc Wangerme, Hélène Zanaldi, Frank Zerbib, Seema Bhaskar, Kazuhiro Kikuta, G Venkat Rao, Shin Hamada, D Nageshwar Reddy, Atsushi Masamune, Giriraj Ratan Chandak, Heiko Witt, Claude Férec, Jian-Min Chen
BACKGROUND: PRSS1 and PRSS2 constitute the only functional copies of a tandemly-arranged five-trypsinogen-gene cluster (i.e., PRSS1, PRSS3P1, PRSS3P2, TRY7 and PRSS2) on chromosome 7q35. Variants in PRSS1 and PRSS2, including missense and copy number variants (CNVs), have been reported to predispose to or protect against chronic pancreatitis (CP). We wondered whether a common trypsinogen pseudogene deletion CNV (that removes two of the three trypsinogen pseudogenes, PRSS3P2 and TRY7) might be associated with CP causation/predisposition...
January 2023: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
#28
JOURNAL ARTICLE
Ze-Xian Liu, Xiao-Long Zhang, Qi Zhao, Yungchang Chen, Hui Sheng, Cai-Yun He, Yu-Ting Sun, Ming-Yu Lai, Min-Qing Wu, Zhi-Xiang Zuo, Wei Wang, Zhi-Wei Zhou, Feng-Hua Wang, Yu-Hong Li, Rui-Hua Xu, Miao-Zhen Qiu
IMPORTANCE: The E-cadherin gene, CDH1, and the α-E-catenin gene, CTNNA1, were previously identified as hereditary diffuse gastric cancer (HDGC) susceptibility genes, explaining 25% to 50% of HDGC cases. The genetic basis underlying disease susceptibility in the remaining 50% to 75% of patients with HDGC is still unknown. OBJECTIVE: To assess the incidence rate of CDH1 germline alterations in HDGC, identify new susceptibility genes that can be used for screening of HDGC, and provide a genetic landscape for HDGC...
December 1, 2022: JAMA Network Open
#29
JOURNAL ARTICLE
Franziska Thiel, Markus Reiser, Frank Ulrich Weiss
BACKGROUND: /Objectives: Sequence variants in several genes have been identified as being associated with an increased inherited risk to develop chronic pancreatitis (CP). In a genetic survey of a CP patient we identified in the PRSS1gene a new c.380C > G sequence variation, giving rise to a non-synonymous p.S127C mutation. Functional studies were performed to analyze the associated pathophysiology of the variant. METHODS: Following generation of an expression vector for the new PRSS1 variant we compared its expression, secretion and catalytic activity with already known PRSS1 risk variants in HEK 293T cells...
December 2022: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
#30
JOURNAL ARTICLE
Wang-Jun Yang, Rong-Chang Cao, Wang Xiao, Xiao-Lou Zhang, Hao Xu, Meng Wang, Zhi-Tao Zhou, Huo-Ji Chen, Jia Xu, Xue-Mei Chen, Jun-Ling Zeng, Shu-Ji Li, Min Luo, Yan-Jiang Han, Xiao-Bing Yang, Guo-Dong Feng, Yu-Heng Lu, Yuan-Yuan Ni, Chan-Gui Wu, Jun-Jie Bai, Zi-Qi Yuan, Jin Jin, Guo-Wei Zhang
Noninflammatory clearance of dying cells by professional phagocytes, termed efferocytosis, is fundamental in both homeostasis and inflammatory fibrosis disease but has not been confirmed to occur in chronic pancreatitis (CP). Here, we investigated whether efferocytosis constitutes a novel regulatory target in CP and its mechanisms. PRSS1 transgenic (PRSS1Tg ) mice were treated with caerulein to mimic CP development. Phospholipid metabolite profiling and epigenetic assays were performed with PRSS1Tg CP models...
October 22, 2022: Cell Death & Disease
#31
JOURNAL ARTICLE
Melis A Aksit, Hua Ling, Rhonda G Pace, Karen S Raraigh, Frankline Onchiri, Anna V Faino, Kymberleigh Pagel, Elizabeth Pugh, Adrienne M Stilp, Quan Sun, Elizabeth E Blue, Fred A Wright, Yi-Hui Zhou, Michael J Bamshad, Ronald L Gibson, Michael R Knowles, Garry R Cutting, Scott M Blackman
Individuals with cystic fibrosis (CF) develop complications of the gastrointestinal tract influenced by genetic variants outside of CFTR. Cystic fibrosis-related diabetes (CFRD) is a distinct form of diabetes with a variable age of onset that occurs frequently in individuals with CF, while meconium ileus (MI) is a severe neonatal intestinal obstruction affecting ∼20% of newborns with CF. CFRD and MI are slightly correlated traits with previous evidence of overlap in their genetic architectures. To better understand the genetic commonality between CFRD and MI, we used whole-genome-sequencing data from the CF Genome Project to perform genome-wide association...
October 6, 2022: American Journal of Human Genetics
#32
JOURNAL ARTICLE
Dongni Fu, Brandon M Blobner, Phil J Greer, Robert Lafyatis, Melena D Bellin, David C Whitcomb
No abstract text is available yet for this article.
September 30, 2022: Gastroenterology
#33
JOURNAL ARTICLE
Julie O Culver, Yael Freiberg, Charité Ricker, Jacob G Comeaux, Emmeline Y Chang, Victoria Banerjee, Duveen Sturgeon, Ilana Solomon, Josie Kagey, Mariana G Dobre, Joseph Carey, Azadeh Carr, Stephanie Cho, Janice Lu, Irene M Kang, Ketan Patel, Alicia Terando, Jason C Ye, Ming Li, Caryn Lerman, Darcy Spicer, Maria Nelson
BACKGROUND: The American Society of Breast Surgeons recommends genetic testing (GT) for all women with breast cancer (BC), but implementation and uptake of GT has not been well-described. METHODS: A retrospective chart review was performed for newly diagnosed BC patients or patients with a newly identified recurrence of BC seen in a multidisciplinary clinic (MDBC) who were offered genetic counseling (GC) and GT. RESULTS: The 138 women attending the MDBC had a median age of 54 years and comprised non-Hispanic whites (46%), Asians (28%), Hispanics (17%), blacks (4%), and other (5%)...
September 26, 2022: Annals of Surgical Oncology
#34
REVIEW
Emmanuelle Girodon, Vinciane Rebours, Jian Min Chen, Adrien Pagin, Philippe Levy, Claude Ferec, Thierry Bienvenu
Since the description of the PRSS1 gene encoding the cationic trypsinogen as being involved in dominant hereditary pancreatitis, more than 50 PRSS1 gene variants have been reported. Among those that have been classified as pathogenic, some have a high penetrance and others have a low penetrance. Assessing the clinical relevance of PRSS1 variants is often complicated in the absence of functional evidence and interpretation regarding rare variants is not very easy in clinical practice. The aim of this study was to review the PRSS1 variants and to classify them according to their degree of deleterious effect...
August 31, 2022: Clinics and Research in Hepatology and Gastroenterology
#35
JOURNAL ARTICLE
Aliye Uc, Gretchen A Cress, Fuchenchu Wang, Maisam Abu-El-Haija, Kate M Ellery, Douglas S Fishman, Cheryl E Gariepy, Tanja Gonska, Tom K Lin, Quin Y Liu, Megha Mehta, Asim Maqbool, Brian A McFerron, Veronique D Morinville, Chee Y Ooi, Emily R Perito, Sarah Jane Schwarzenberg, Zachary M Sellers, Jose Serrano, Uzma Shah, David M Troendle, Michael Wilschanski, Yuhua Zheng, Ying Yuan, Mark E Lowe
OBJECTIVES: The objective of this study is to investigate risk factors and disease burden in pediatric acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP). METHODS: Data were obtained from INternational Study group of Pediatric Pancreatitis: In search for a cuRE-2 (INSPPIRE-2), the largest multi-center prospective cohort study in pediatric patients with ARP or CP. RESULTS: Of 689 children, 365 had ARP (53%), 324 had CP (47%). CP was more commonly associated with female sex, younger age at first acute pancreatitis (AP) attack, Asian race, family history of CP, lower BMI%, genetic and obstructive factors, PRSS1 mutations and pancreas divisum...
November 1, 2022: Journal of Pediatric Gastroenterology and Nutrition
#36
JOURNAL ARTICLE
Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen
BACKGROUND: The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been widely used in medical genetics. However, these guidelines are fundamentally constrained in practice owing to their focus upon Mendelian disease genes and their dichotomous classification of variants as being either causal or not. Herein, we attempt to expand the ACMG guidelines into a general variant classification framework that takes into account not only the continuum of clinical phenotypes, but also the continuum of the variants' genetic effects, and the different pathological roles of the implicated genes...
August 16, 2022: Human Genomics
#37
JOURNAL ARTICLE
Jingqing Zeng, Jiayu Zhang, Yabin Hu, Xiumin Wang, Zhaohui Deng
Background: Risk factors for progression from acute recurrent pancreatitis (ARP) to chronic pancreatitis (CP) in children are poorly understood. Aim: To summarize the clinical characteristics of children with ARP and CP, identify the risk factors of CP, and investigate the factors associated with rapid progression from initial onset of ARP to CP. Methods: The following variables were included in the risk factor analysis: sex, age at onset, family history, pancreas or biliary tract structural abnormalities, and genetic variations...
2022: Frontiers in Pediatrics
#38
JOURNAL ARTICLE
Juying Jiao, Chien-Shan Cheng, Panling Xu, Peiwen Yang, Ke Zhang, Yanhua Jing, Zhen Chen
ETHNOPHARMACOLOGICAL RELEVANCE: Xiang-lian pill, consisting of Coptis chinensis Franch. coprocessed with Tetradium ruticarpum (A.Juss.) T.G.Hartley (Yu-huang-lian) and Aucklandia lappa DC. (Mu-xiang), is traditionally used to relieve fever, abdominal pain, and gastrointestinal inflammatory symptoms observed in patients with malignancies of the gastrointestinal tract. Each of the three herbs contained in Xiang-lian pill has been indicated to have anticancer effects on a variety of cancers, but its effects on pancreatic cancer remain unexplored...
August 2, 2022: Journal of Ethnopharmacology
#39
REVIEW
Ana Dugic, Cristina Verdejo Gil, Claudia Mellenthin, Miroslav Vujasinovic, J-Matthias Löhr, Steffen Mühldorfer
Autoimmune pancreatitis (AIP) is a rare etiological type of chronic pancreatitis. The clinical and radiological presentation of AIP often resembles that of pancreatic cancer. Identifying non-invasive markers for their early distinction is of utmost importance to avoid unnecessary surgery or a delay in steroid therapy. Thus, this systematic review was conducted to revisit all current evidence on the clinical utility of different serum biomarkers in diagnosing AIP, distinguishing AIP from pancreatic cancer, and predicting disease course, steroid therapy response, and relapse...
June 26, 2022: Biomedicines
#40
REVIEW
Cade Bennett, Mike Suguitan, John Abad, Akhil Chawla
Pancreatic cancer (PC) is a product of a variety of environmental and genetic factors. Recent work has highlighted the influence of hereditary syndromes on pancreatic cancer incidence. The purpose of this review is to identify the high-risk syndromes, common variants, and risks associated with PC. The study also elucidates common characteristics of patients with these mutations, which is used to recommend potential changes to current screening protocols for greater screening efficacy. We analyzed 8 syndromes and their respective variants: Hereditary Breast and Ovarian Cancer (BRCA1/2), Familial Atypical Multiple Mole Melanoma Syndrome (CDKN2A), Peutz-Jeghers Syndrome (STK11), Lynch Syndrome (PMS2, MLH1, MSH2, MSH6, EPCAM), Ataxia Telangiectasia (ATM), Li-Fraumeni Syndrome (TP53), Fanconi Anemia (PALB2), and Hereditary Pancreatitis (PRSS1, SPINK1, CFTR)...
September 2022: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
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