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Aliye Uc, Dana K Andersen, Melena D Bellin, Jason I Bruce, Asbjørn M Drewes, John F Engelhardt, Christopher E Forsmark, Markus M Lerch, Mark E Lowe, Brent A Neuschwander-Tetri, Stephen J OʼKeefe, Tonya M Palermo, Pankaj Pasricha, Ashok K Saluja, Vikesh K Singh, Eva M Szigethy, David C Whitcomb, Dhiraj Yadav, Darwin L Conwell
A workshop was sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases to focus on research gaps and opportunities in chronic pancreatitis (CP) and its sequelae. This conference marked the 20th year anniversary of the discovery of the cationic trypsinogen (PRSS1) gene mutation for hereditary pancreatitis. The event was held on July 27, 2016, and structured into 4 sessions: (1) pathophysiology, (2) exocrine complications, (3) endocrine complications, and (4) pain. The current state of knowledge was reviewed; many knowledge gaps and research needs were identified that require further investigation...
November 2016: Pancreas
Karolina Wejnarska, Elwira Kolodziejczyk, Katarzyna Wertheim-Tysarowska, Maciej Dadalski, Agnieszka Sobczynska-Tomaszewska, Jarosław Kierkus, Jerzy Bal, Agnieszka Magdalena Rygiel, Grzegorz Oracz
OBJECTIVES: The etiological factors of chronic pancreatitis (CP) in children differ from those in adults. To date, no study has assessed the clinical course of CP in young children. The aim of our study was to evaluate the etiology and the clinical presentation of the disease in children with disease onset before 5 years of age in comparison to later-onset of CP. METHODS: A total of 276 children with CP, hospitalised from 1988 to 2015, were enrolled in the study...
September 24, 2016: Journal of Pediatric Gastroenterology and Nutrition
Zhengfei Wang, Shixia Xu, Kexing Du, Fang Huang, Zhuo Chen, Kaiya Zhou, Wenhua Ren, Guang Yang
Although cetaceans (whales, porpoises, and dolphins) have multi-chambered stomachs, feeding habits of modern cetaceans have dramatically changed from herbivorous to carnivorous. However, the genetic basis underlying this dietary switch remains unexplored. Here, we present the first systematic investigation of 10 digestive enzymes genes (i.e., CYP7A1, CTRC, LIPC, LIPF, PNLIP, PGC, PRSS1, SI, SLC5A1, and TMPRSS15) of representative cetaceans, and the evolutionary trajectory of RNASE1 in cetartiodactylans. Positive selections were detected with proteinases (i...
September 20, 2016: Molecular Biology and Evolution
Li-Na Dai, Ying-Wei Chen, Wei-Hui Yan, Li-Na Lu, Yi-Jing Tao, Wei Cai
BACKGROUND: Hereditary pancreatitis (HP) is quite rare and is distinguished by incomplete penetrance presentation as early-onset relapsing pancreatitis, usually beginning in childhood. HP is now known to be commonly relevant to mutations in the PRSS1 (gene-encoding cationic trypsinogen), SPINK1 (serine protease inhibitor, Kazal type 1), CFTR (cystic fibrosis), carboxypeptidase A1 (CPA1), and chymotrypsin C (CTRC) genes as reported in some Caucasian studies. HP has a variable spectrum of severity and may develop complications...
September 2016: Medicine (Baltimore)
Sun Mi Cho, Saeam Shin, Kyung A Lee
BACKGROUND: This study aimed to identify pathogenic variants of PRSS1, SPINK1, CFTR, and CTRC genes in Korean patients with idiopathic pancreatitis. METHODS: The study population consisted of 116 Korean subjects (65 males, 51 females; mean age, 30.4 yr, range, 1-88 yr) diagnosed with idiopathic chronic pancreatitis (ICP), idiopathic recurrent acute pancreatitis (IRAP), or idiopathic acute pancreatitis (IAP). We analyzed sequences of targeted regions in the PRSS1, SPINK1, CFTR, and CTRC genes, copy numbers of PRSS1 and SPINK1, and clinical data from medical records...
November 2016: Annals of Laboratory Medicine
Kara L Raphael, Field F Willingham
Hereditary pancreatitis (HP) is a rare cause of acute, recurrent acute, and chronic pancreatitis. It may present similarly to other causes of acute and chronic pancreatitis, and often there has been a protracted evaluation prior to the diagnosis of HP. Since it was first described in 1952, multiple genetic defects that affect the action of digestive enzymes in the pancreas have been implicated. The most common mutations involve the PRSS1, CFTR, SPINK1, and CTRC genes. New mutations in these genes and previously unrecognized mutations in other genes are being discovered due to the increasing use of next-generation genomic sequencing...
2016: Clinical and Experimental Gastroenterology
Arnaud Boulling, Amandine Abrantes, Emmanuelle Masson, David N Cooper, Michel Robaszkiewicz, Jian-Min Chen, Claude Férec
Recently, our resequencing of the promoter region of PRSS1 in French Caucasian individuals led to the identification of a functional variant (c.-204C>A) that is in perfect linkage disequilibrium with the 'chronic pancreatitis (CP)-protective' PRSS1 c.-408C>T variant. Here, we extended the resequencing to 626 French Caucasians (242 idiopathic CP patients and 384 controls). We discovered three additional variants (c.-184G>A, c.-173C>T and c.-147C>T), each being found only once in either patients or controls...
July 18, 2016: Human Mutation
Nobutomo Saito, Mitsuyoshi Suzuki, Yumiko Sakurai, Satoshi Nakano, Nakayuki Naritaka, Kei Minowa, Jin K Sai, Toshiaki Shimizu
OBJECTIVES: Causes of acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP) are sometimes difficult to determine in children. In such patients, genetic analysis may prove helpful. The present study analyzed mutations of cationic trypsinogen (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), chymotrypsin C (CTRC), and carboxypeptidase A1 (CPA1) and investigated the clinical features of children with these mutations. METHODS: Genetic analyses of mutations in these 4 genes were conducted in 128 patients with ARP or CP...
October 2016: Journal of Pediatric Gastroenterology and Nutrition
Robert A Moran, Robert Klapheke, Niloofar Y Jalaly, Martin A Makary, Kenzo Hirose, Michael Goggins, Laura Wood, Daniel A Laheru, Anne Marie Lennon, Mouen A Khashab, Vikesh K Singh
Contrary to patients with a cationic trypsinogen gene (PRSS1) mutations, Serine protease inhibitor Kazal-type 1 (SPINK1) heterozygote gene mutation carriers have a very low penetrance for acute, acute recurrent and/or chronic pancreatitis. Despite this, heterozygote SPINK 1 gene mutation patients have a similar age of onset of pancreatitis as PRSS 1 gene mutation patients. While the substantially elevated risk of pancreatic cancer in patients with PRSS1 gene mutations with chronic pancreatitis has been well established, little is known about the risk of pancreatic cancer in SPINK 1 gene mutation carriers with pancreatitis...
September 2016: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
Grzegorz Oracz, Elwira Kolodziejczyk, Agnieszka Sobczynska-Tomaszewska, Karolina Wejnarska, Maciej Dadalski, Alicja Monika Grabarczyk, Jaroslaw Kierkus, Marek Woynarowski, Katarzyna Wertheim-Tysarowska, Jozef Ryzko, Jerzy Bal, Agnieszka Magdalena Rygiel
BACKGROUND: Available data from adult patients do not reflect natural course of hereditary pancreatitis (HP) in children. To date, no study has assessed the clinical course of HP in children. OBJECTIVE: To investigate the clinical course of HP in children and compare it to non-HP group with chronic pancreatitis (CP). METHODS: A group of 265 children with CP, hospitalized from 1988 to 2014, were enrolled in the study. Medical records of those patients were reviewed for data on presentation, diagnostic findings and treatment...
July 2016: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
W Zhiping, L Quwen, Z Hai, Z Jian, G Peiyi
AIM: We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), diabetes, and recurrent pancreatitis. MATERIAL AND METHODS: DNA sequencing was used to detect and validate mitochondrial DNA and PRSS1. We also verified that mitochondrial heterozygous mutations and c...
2016: Folia Neuropathologica
Joseph J Palermo, Tom K Lin, Lindsey Hornung, C Alexander Valencia, Abhinav Mathur, Kimberly Jackson, Lin Fei, Maisam Abu-El-Haija
OBJECTIVES: The aim of this study was to determine if comprehensive genetic testing was useful to identify genetic variants that discriminate chronic pancreatitis (CP) from acute recurrent pancreatitis (ARP) in a pediatric population. METHODS: We conducted a retrospective review of 50 patients enrolled in our institutional pancreatitis registry between April 2013 and January 2015. Genetic analysis of PRSS1, CFTR, SPINK1, and CTRC classified variants as mutations or variants of unknown clinical significance and the minor allele frequency of variants in our cohort was obtained...
October 2016: Pancreas
Zsanett Jancsó, Miklós Sahin-Tóth
The human pancreas expresses two major trypsinogen isoforms, cationic trypsinogen (PRSS1) and anionic trypsinogen (PRSS2). Mutations in PRSS1 cause hereditary pancreatitis by altering cleavage of regulatory nick sites by chymotrypsin C (CTRC) resulting in reduced trypsinogen degradation and increased autoactivation. Despite 90% identity with PRSS1 and a strong propensity for autoactivation, mutations in PRSS2 are not found in hereditary pancreatitis suggesting that activation of this isoform is more tightly regulated...
June 17, 2016: Journal of Biological Chemistry
Vienna Ludovini, Fortunato Bianconi, Annamaria Siggillino, Danilo Piobbico, Jacopo Vannucci, Giulio Metro, Rita Chiari, Guido Bellezza, Francesco Puma, Maria Agnese Della Fazia, Giuseppe Servillo, Lucio Crinò
Risk assessment and treatment choice remains a challenge in early non-small-cell lung cancer (NSCLC). The aim of this study was to identify novel genes involved in the risk of early relapse (ER) compared to no relapse (NR) in resected lung adenocarcinoma (AD) patients using a combination of high throughput technology and computational analysis. We identified 18 patients (n.13 NR and n.5 ER) with stage I AD. Frozen samples of patients in ER, NR and corresponding normal lung (NL) were subjected to Microarray technology and quantitative-PCR (Q-PCR)...
May 24, 2016: Oncotarget
Soma Kumar, Chee Y Ooi, Steven Werlin, Maisam Abu-El-Haija, Bradley Barth, Melena D Bellin, Peter R Durie, Douglas S Fishman, Steven D Freedman, Cheryl Gariepy, Matthew J Giefer, Tanja Gonska, Melvin B Heyman, Ryan Himes, Sohail Z Husain, Tom K Lin, Mark E Lowe, Veronique Morinville, Joseph J Palermo, John F Pohl, Sarah Jane Schwarzenberg, David Troendle, Michael Wilschanski, M Bridget Zimmerman, Aliye Uc
IMPORTANCE: Pediatric acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP) are poorly understood. OBJECTIVE: To characterize and identify risk factors associated with ARP and CP in childhood. DESIGN, SETTING, AND PARTICIPANTS: A multinational cross-sectional study of children with ARP or CP at the time of enrollment to the INSPPIRE (International Study Group of Pediatric Pancreatitis: In Search for a Cure) study at participant institutions of the INSPPIRE Consortium...
June 1, 2016: JAMA Pediatrics
Przemysław Dyrla, Tomasz Nowak, Jerzy Gil, Cezary Adamiec, Mariusz Bobula, Marek Saracyn
Hereditary pancreatitis (HP) is a rare, heterogeneous familial disease and should be suspected in any patient who has suffered at least two attacks of acute pancreatitis for which there is no underlying cause and unexplained chronic pancreatitis with a family history in a first- or second degree relative. with an early onset, mostly during childhood. Genetic factors have been implied in cases of familial chronic pancreatitis. The most common are mutations of the PRSS1 gene on the long arm of the chromosome 7, encoding for the cationic trypsinogen...
February 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Edgardo D Rivera Rivera, Ankur Chugh, Jonathon Cordova, Sona Young
A 13-year-old boy with a strong family history of hereditary pancreatitis was found to have a PRSS1 mutation after being tested at age 5 years during his first documented incident of pancreatitis. Since then, a multidisciplinary team has been treating him for the diagnosis of hereditary pancreatitis. His pain episodes increased in severity over the past several months such that the pain began to severely interfere with his daily life. After extensive discussion, a total pancreatectomy with auto islet cell transplant was performed...
February 2016: Pediatric Annals
Anita Balázs, Péter Hegyi, Miklós Sahin-Tóth
Mutations in the PRSS1 gene encoding human cationic trypsinogen are associated with hereditary and sporadic chronic pancreatitis. High-penetrance PRSS1 mutations found in hereditary pancreatitis alter activation and/or degradation of cationic trypsinogen, thereby promoting intrapancreatic trypsinogen activation. In contrast, a number of rare PRSS1 variants identified in subjects with sporadic chronic pancreatitis cause misfolding and endoplasmic reticulum (ER) stress. Mutation p.L104P is unique among natural PRSS1 variants, since it affects the substrate binding site of trypsin...
April 1, 2016: American Journal of Physiology. Gastrointestinal and Liver Physiology
Anil K Giri, Shallu Midha, Priyanka Banerjee, Ankita Agrawal, Syed Jafar Mehdi, Rajan Dhingra, Ismeet Kaur, Ramesh Kumar G, Ritika Lakhotia, Saurabh Ghosh, Kshaunish Das, Samir Mohindra, Surinder Rana, Deepak K Bhasin, Pramod K Garg, Dwaipayan Bharadwaj
A recent genome-wide association study (GWAS) identified association with variants in X-linked CLDN2 and MORC4, and PRSS1-PRSS2 loci with chronic pancreatitis (CP) in North American patients of European ancestry. We selected 9 variants from the reported GWAS and replicated the association with CP in Indian patients by genotyping 1807 unrelated Indians of Indo-European ethnicity, including 519 patients with CP and 1288 controls. The etiology of CP was idiopathic in 83.62% and alcoholic in 16.38% of 519 patients...
2016: PloS One
Sumit Paliwal, Seema Bhaskar, D Nageshwar Reddy, G Venkat Rao, Varghese Thomas, Shivaram Prasad Singh, Giriraj Ratan Chandak
OBJECTIVE: Association of PRSS1-PRSS2 (rs10273639) and CLDN2-MORC4 (rs12688220 and rs7057398) variants with alcohol-related chronic pancreatitis (CP) is established but with nonalcoholic CP is unclear. We addressed this inconsistency using tropical calcific pancreatitis (TCP) as model. METHODS: We sequenced 5'-UTR of PRSS1 and genotyped CLDN2-MORC4 variants in 555 patients with TCP and 801 controls and performed association analysis. Gene-gene interaction between PRSS1 and CLDN2-MORC4 variants and with p...
September 2016: Pancreas
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