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Hereditary pancreatitis

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https://www.readbyqxmd.com/read/28178173/screening-for-hereditary-angioedema-hae-at-13-emergency-centers-in-osaka-japan-a-prospective-observational-study
#1
Tomoya Hirose, Futoshi Kimbara, Masahiro Shinozaki, Yasuaki Mizushima, Hidehiko Yamamoto, Masashi Kishi, Takeyuki Kiguchi, Shigeru Shiono, Mitsuhiro Noborio, Akihiro Fuke, Hiroshi Akimoto, Takaaki Kimura, Shinichiro Kaga, Takahiko Horiuchi, Takeshi Shimazu
Hereditary angioedema (HAE) with deficiency of C1 inhibitor (C1-INH) is an autosomal-dominant disease characterized by recurrent episodes of potentially life-threatening angioedema. The objective is to study the incidence of HAE among patients who visit the emergency department.This was a 3-year prospective observational screening study involving 13 urban tertiary emergency centers in Osaka prefecture, Japan. Patients were included if they met the following criteria: unexplained edema of the body, upper airway obstruction accompanied by edema, anaphylaxis, acute abdomen with intestinal edema (including ileus and acute pancreatitis), or asthma attack...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28129231/specific-radiological-imaging-findings-in-patients-with-hereditary-pancreatitis-during-a-long-follow-up-of-disease
#2
Aura A J van Esch, Joost P H Drenth, John J Hermans
OBJECTIVES: Hereditary pancreatitis (HP) is characterized by recurrent episodes of inflammation of the pancreas. Radiological imaging is used to diagnose HP and to monitor complications. The aim of this study was to describe specific imaging findings in HP. METHODS: We retrospectively collected data of HP patients with serial imaging and reviewed all radiological imaging studies (transabdominal ultrasonography, computed tomography, and magnetic resonance imaging)...
March 2017: Pancreas
https://www.readbyqxmd.com/read/28101143/clinical-aspects-of-pancreatogenic-diabetes-secondary-to-hereditary-pancreatitis
#3
Marcio Garrison Dytz, Pedro Arthur Hamamoto Marcelino, Olga de Castro Santos, Lenita Zajdenverg, Flavia Lucia Conceição, Tânia Maria Ortiga-Carvalho, Melanie Rodacki
BACKGROUND: Hereditary pancreatitis is a rare inherited form of pancreatitis, characterized by recurrent episodes of acute pancreatitis with early onset and/or chronic pancreatitis, and presenting brittle diabetes, composed of episodes of nonketotic hyperglycemia and severe hypoglycemia. The existing literature regarding this form of diabetes is scarce. In this report, clinical features of pancreatogenic diabetes secondary to hereditary pancreatitis are presented along with recommendations for appropriate medical treatment...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28039657/self-reported-questionnaire-detects-family-history-of-cancer-in-a-pancreatic-cancer-screening-program
#4
Aimee L Lucas, Adam Tarlecki, Kellie Van Beck, Casey Lipton, Arindam RoyChoudhury, Elana Levinson, Sheila Kumar, Wendy K Chung, Harold Frucht, Jeanine M Genkinger
Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer death; approximately 5-10% of PDAC is hereditary. Self-administered health history questionnaires (HHQs) may provide a low-cost method to detail family history (FH) of malignancy. Pancreas Center patients were asked to enroll in a registry; 149 with PDAC completed a HHQ which included FH data. Patients with FH of PDAC, or concern for inherited PDAC syndrome, were separately evaluated in a Prevention Program and additionally met with a genetic counselor (GC) to assess PDAC risk (n = 61)...
December 30, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28006863/concordant-and-discordant-familial-cancer-familial-risks-proportions-and-population-impact
#5
Christoph Frank, Jan Sundquist, Hongyao Yu, Akseli Hemminki, Kari Hemminki
Relatives of cancer patients are at an increased risk of the same (concordant) cancer but whether they are at a risk for different (discordant) cancers is largely unknown - beyond well characterized hereditary cancer syndromes - but would be of major scientific and clinical interest. We therefore decided to resolve the issue by analyzing familial risks when family members were diagnosed with any discordant cancers. We compared the population impact of concordant to discordant familial cancer. The Swedish Family-Cancer Database (FCD) was used to calculate familial relative risks (RRs) for family members of cancer patients, for the 27 most common cancers...
April 1, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27926368/genetic-syndromes-with-pancreatic-manifestations
#6
REVIEW
Meredith E Pittman, Lodewijk A A Brosens, Laura D Wood
Although the pancreas is affected by only a small fraction of known inherited disorders, several of these syndromes predispose patients to pancreatic adenocarcinoma, a cancer that has a consistently dismal prognosis. Still other syndromes are associated with neuroendocrine tumors, benign cysts, or recurrent pancreatitis. Because of the variability of pancreatic manifestations and outcomes, it is important for clinicians to be familiar with several well-described genetic disorders to ensure that patients are followed appropriately...
December 2016: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/27899186/familial-pancreatic-cancer
#7
REVIEW
Gloria M Petersen
Familial pancreatic cancer (FPC) includes those kindreds that contain at least two first-degree relatives with pancreatic ductal adenocarcinoma. At least 12 known hereditary syndromes or genes are associated with increased risk of developing pancreatic cancer, the foremost being BRCA2 and CDKN2A. Research into the identification of mutations in known cancer predisposition genes and through next-generation sequencing has revealed extensive heterogeneity. The development of genetic panel testing has enabled genetic risk assessment and predisposition testing to be routinely offered...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27804060/uptake-of-genetic-counseling-genetic-testing-and-surveillance-in-hereditary-malignant-melanoma-cdkn2a-in-norway
#8
Trine Levin, Lovise Mæhle
Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. In order to find out if the behavior pattern in families with a CDKN2A mutation is similar to what we previously have described in families with a BRCA1 mutation, we have studied the uptake of genetic services in probands and their relatives. We describe whether they attend genetic counseling when invited, whether they want a mutation test after being counseled and whether they adhere to recommendations for surveillance...
November 1, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27757719/characterization-of-a-novel-germline-palb2-duplication-in-a-hereditary-breast-and-ovarian-cancer-family
#9
Ciyu Yang, Angela G Arnold, Magan Trottier, Yukio Sonoda, Nadeem R Abu-Rustum, Oliver Zivanovic, Mark E Robson, Zsofia K Stadler, Michael F Walsh, David M Hyman, Kenneth Offit, Liying Zhang
PURPOSE: Mutations in PALB2 have been associated with a predisposition to breast and pancreatic cancers. This study aims to characterize a novel PALB2 exon 13 duplication in a hereditary breast and ovarian cancer family. METHODS: The PALB2 exon 13 duplication in this family was evaluated using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT™) and confirmed by multiplex ligation-dependent probe amplification (MLPA)...
December 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27753056/prevention-and-screening-in-hereditary-breast-and-ovarian-cancer
#10
Simon B Zeichner, Christine Stanislaw, Jane L Meisel
In recent years, we have learned a great deal about pathogenic mutations that increase the risk of breast and ovarian cancer, particularly mutations in the BRCA1 and BRCA2 genes. Here we review current guidelines on breast and ovarian cancer screening, prophylactic surgery, and other risk-reduction strategies in patients with these mutations, and we detail the data that drive these recommendations. We also discuss guidelines on screening and management for other cancers associated with BRCA1 and BRCA2, such as male breast cancer, pancreatic cancer, and prostate cancer...
October 15, 2016: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/27748719/chronic-pancreatitis-in-the-21st-century-research-challenges-and-opportunities-summary-of-a-national-institute-of-diabetes-and-digestive-and-kidney-diseases-workshop
#11
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
https://www.readbyqxmd.com/read/27732944/germline-mutations-in-japanese-familial-pancreatic-cancer-patients
#12
Erina Takai, Shinichi Yachida, Kyoko Shimizu, Junji Furuse, Emi Kubo, Akihiro Ohmoto, Masami Suzuki, Ralph H Hruban, Takuji Okusaka, Chigusa Morizane, Toru Furukawa
Clinicopathologic and genetic features of familial pancreatic cancer (FPC) in Asian countries remain largely unknown. The main purpose of this study was to determine the prevalence of FPC and to define causative FPC-predisposition genes in a Japanese cohort with pancreatic ductal adenocarcinoma (PDAC).We reviewed 1,197 patients with a pathologically proven PDAC and found that 88 (7.3%) were FPC patients who had at least one first-degree relative with PDAC. There were no significant differences between the FPC cases and sporadic cases in terms of gender, age, tumor location, stage, family history of any cancer except PDAC, and personal history of smoking, other cancers, diabetes mellitus and chronic pancreatitis...
October 6, 2016: Oncotarget
https://www.readbyqxmd.com/read/27721756/synchronous-onset-of-breast-and-pancreatic-cancers-results-of-germline-and-somatic-genetic-analysis
#13
Michael Castro, Koah Vierkoetter, Douglas Prager, Shasta Montgomery, Kristin Sedgwick
BACKGROUND: Synchronous cancers have occasionally been detected at initial diagnosis among patients with breast and ovarian cancer. However, simultaneous coexistence and diagnosis of breast and pancreas cancer has not previously been reported. CASE REPORT: Paternal transmission of a germline BRCA2 mutation to a patient who was diagnosed at age 40 with locally advanced breast and pancreas cancer is presented. Somatic genomic analysis of both cancers with next-generation DNA sequencing confirmed the germline result and reported a variety of variants of unknown significance alterations, of which two were present in both the breast and pancreas cancers...
May 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27679730/is-a-fatty-pancreas-a-banal-lesion
#14
REVIEW
Andrzej Smereczyński, Katarzyna Kołaczyk
So far, a fatty pancreas has been related to obesity and the ageing processes in the body. The current list of pathogenetic factors of the condition is clearly extended with genetically conditioned diseases (cystic fibrosis, Shwachman-Diamond syndrome and Johanson-Blizzard syndrome), pancreatitis, especially hereditary and obstructive, metabolic and hormonal disorders (hypertriglyceridemia, hypercholesterolemia, hyperinsulinemia and hypercortisolemia), alcohol overuse, taking some medicines (especially adrenal cortex hormones), disease of the liver and visceral adiposis...
September 2016: Journal of Ultrasonography
https://www.readbyqxmd.com/read/27603351/hereditary-pancreatitis-of-3-chinese-children-case-report-and-literature-review
#15
REVIEW
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)
https://www.readbyqxmd.com/read/27555793/hereditary-pancreatitis-current-perspectives
#16
REVIEW
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
https://www.readbyqxmd.com/read/27551892/bilateral-adrenalectomy-a-review-of-10-years-experience
#17
REVIEW
D Maccora, G V Walls, G P Sadler, R Mihai
INTRODUCTION The 2012 British Association of Endocrine and Thyroid Surgeons audit report showed that only 86 of 1359 patients who underwent adrenalectomy had a bilateral operation; thus the experience with this procedure remains limited. METHODS Retrospective review of patients undergoing bilateral adrenalectomy in a tertiary referral centre. RESULTS Between November 2005 and January 2016, bilateral adrenalectomy was performed in 23 patients (6 male, 17 female, age 43 ± 4 years) diagnosed with Cushing's disease (n = 13), hereditary phaeochromocytomas (n = 6), adrenocortical cancer (n = 2), colorectal metastatic disease (n = 1) and adrenocortical adenomas (n = 1)...
February 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/27535145/incidence-and-clinical-associations-of-childhood-acute-pancreatitis
#18
Abdalmonem A Majbar, Eleri Cusick, Paul Johnson, Richard M Lynn, Linda P Hunt, Julian P H Shield
OBJECTIVES: To establish the UK incidence and clinical associations of acute pancreatitis (AP) in children aged 0 to 14 years. METHODS: Monthly surveillance of new cases of AP in children under 15 years of age through the British Pediatric Surveillance Unit conducted from April 2013 to April 2014 (inclusive) followed by 1-year administrative follow-up for all valid cases. RESULTS: Ninety-four cases (48 boys) fulfilled the diagnostic criteria...
September 2016: Pediatrics
https://www.readbyqxmd.com/read/27532258/analysis-of-founder-mutations-in-rare-tumors-associated-with-hereditary-breast-ovarian-cancer-reveals-a-novel-association-of-brca2-mutations-with-ampulla-of-vater-carcinomas
#19
Pedro Pinto, Ana Peixoto, Catarina Santos, Patrícia Rocha, Carla Pinto, Manuela Pinheiro, Luís Leça, Ana Teresa Martins, Verónica Ferreira, Carla Bartosch, Manuel R Teixeira
BRCA1 and BRCA2 mutations are responsible for hereditary breast and ovarian cancer, but they also confer an increased risk for the development of rarer cancers associated with this syndrome, namely, cancer of the pancreas, male breast, peritoneum, and fallopian tube. The objective of this work was to quantify the contribution of the founder mutations BRCA2 c.156_157insAlu and BRCA1 c.3331_3334del for cancer etiology in unselected hospital-based cohorts of Portuguese patients diagnosed with these rarer cancers, by using a strategy that included testing of archival tumor tissue...
2016: PloS One
https://www.readbyqxmd.com/read/27518468/genetically-determined-chronic-pancreatitis-but-not-alcoholic-pancreatitis-is-a-strong-risk-factor-for-pancreatic-cancer
#20
Shallu Midha, Vishnubhatla Sreenivas, Madhulika Kabra, Tushar Kanti Chattopadhyay, Yogendra Kumar Joshi, Pramod Kumar Garg
OBJECTIVE: To study if chronic pancreatitis (CP) is a risk factor for pancreatic cancer. METHODS: Through a cohort and a case-control study design, CP and other important risk factors including smoking, diabetes, alcohol, obesity, and genetic mutations were studied for their association with pancreatic cancer. RESULTS: In the cohort study, 402 patients with CP were included. During 3967.74 person-years of exposure, 5 of the 402 patients (4 idiopathic CP, 1 hereditary CP) developed pancreatic cancer after 16...
November 2016: Pancreas
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