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Endocrine neoplasia

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https://www.readbyqxmd.com/read/28329921/neuroendocrine-tumors-in-the-stomach-duodenum-and-pancreas-accompanied-by-novel-men1-gene-mutation
#1
Min A Yang, Woong Ki Lee, Hong Shik Shin, Sung Hyun Park, Byung Sun Kim, Ji Woong Kim, Jin Woong Cho, So Hee Yun
Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the pancreas. Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. A 53-year-old man visited our hospital to manage gastric NET. Five years prior to his visit, he had undergone surgery for incidental meningioma. His brother had pancreatic nodules and a history of surgery for adrenal adenoma...
March 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/28323985/utility-of-fdg-pet-imaging-for-risk-stratification-of-pancreatic-neuroendocrine-tumours-in-men-1
#2
E R Kornaczewski Jackson, O P Pointon, R Bohmer, J R Burgess
Context: Patients with Multiple Endocrine Neoplasia Type 1 (MEN 1) are at high risk of malignant pancreatic Neuroendocrine Tumours (pNETs). Structural imaging is typically used to screen for pNETs, but is suboptimal for stratifying malignant potential. Objective: To determine the utility of Fluorodeoxyglucose (18F) positron emission tomography/computed tomography (18F-FDG PET/CT) for predicting the malignant potential of pNETs in MEN 1. Design: Retrospective observational study...
March 7, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323962/men1-dependent-breast-cancer-indication-for-early-screening-results-from-the-dutch-men1-study-group
#3
Rachel S van Leeuwaarde, Koen Dreijerink, Margreet G Ausems, Hanneke J Beijers, Olaf M Dekkers, Wouter W de Herder, Anouk N van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Petra H M Peeters, Ruud M Pijnappel, Menno R Vriens, Gerlof D Valk
Objective: Multiple Endocrine Neoplasia type 1 (MEN1) is associated with an early onset elevated breast cancer risk. This finding potentially has implications for breast cancer screening for females with MEN1. Considering the impact for females with MEN1, regarding distress and anxiety, it is necessary to assess if other risk factors are involved to identify those at greatest risk. Design: A cross-sectional case control study was performed using the Dutch MEN1 cohort, including >90% of the Dutch MEN1 population of 18 years and older...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323957/risk-profile-of-the-ret-a883f-germline-mutation-an-international-collaborative-study
#4
Jes Sloth Mathiesen, Mouhammed Amir Habra, John Howard Duncan Bassett, Sirazum Mubin Choudhury, Sabapathy Prakash Balasubramanian, Trevor A Howlett, Bruce G Robinson, Anne-Paule Gimenez-Roqueplo, Frederic Castinetti, Peter Vestergaard, Karin Frank-Raue
Context: The A883F germline mutation of the REarranged during Transfection proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC) the A883F mutation has been reclassified from the highest to high risk level, although no well-defined risk profile for this mutation exists. Objective: To create a risk profile for the A883F mutation for appropriate classification in the ATA risk levels...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28319498/fdopa-patterns-in-adrenal-glands-a-pictorial-essay
#5
Aurélie Moreau, Anne Laure Giraudet, David Kryza, Françoise Borson-Chazot, Claire Bournaud-Salinas, Thomas Mognetti, Jean-Christophe Lifante, Patrick Combemale, Francesco Giammarile, Claire Houzard
F-FDOPA is a well-established tool to explore pheochromocytomas. It tends to replace I-MIBG scan in metastatic pheochromocytomas, multiple endocrine neoplasia type 2-related tumors, succinate dehydrogenase [ubiquinone] iron-sulfur subunit-negative tumors, and succinate dehydrogenase[ZERO WIDTH SPACE]-positive lesions. To our knowledge, no study has characterized physiological and pathological adrenal glands with F-FDOPA from a quantitative point of view. We report the features of different normal and pathological adrenal glands with F-FDOPA...
March 17, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28298337/radiological-surveillance-in-multiple-endocrine-neoplasia-type-1-a-double-edged-sword
#6
Ruth Therese Casey, Deborah Saunders, Ben George Challis, Deborah Pitfield, Heok Cheow, Ashley Shaw, Helen Lisa Simpson
CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary condition characterised by the predisposition to hyperplasia/tumours of endocrine glands. MEN1 related disease, moreover malignancy related to MEN1, is increasingly responsible for death in up to two-thirds of patients. Whilst patients undergo radiological and biochemical surveillance, current recommendations for radiological monitoring are based on non-prospective data with little consensus or evidence demonstrating improved outcome from this approach...
March 15, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28289088/association-between-neuroendocrine-tumors-biomarkers-and-primary-tumor-site-and-disease-type-based-on-total-68-ga-dotatate-avid-tumor-volume-measurements
#7
Amit Tirosh, Georgios Z Papadakis, Corina Millo, Samira M Sadowski, Peter Herscovitch, Karel Pacak, Stephen J Marx, Lily Yang, Pavel Nockel, Jasmine Shell, Patience Green, Xavier M Keutgen, Dhaval Patel, Naris Nilubol, Electron Kebebew
OBJECTIVE: To determine the association between neuroendocrine tumor (NET) biomarker levels and the extent of disease as assessed by (68)Ga DOTATATE PET/CT imaging. DESIGN: A retrospective analysis of a prospective database of patients with NETs. METHODS: Fasting plasma chromogranin A (CgA), neuron-specific enolase (NSE), gastrin, glucagon, vasoactive intestinal peptide (VIP) and pancreatic polypeptide (PP), and 24-h urinary 5-hydroxyindoleacetic acid (5-HIAA) levels were measured...
May 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28276947/assessment-of-depression-anxiety-quality-of-life-and-coping-in-long-standing-multiple-endocrine-neoplasia-type-2-patients
#8
Karine Candido Rodrigues, Rodrigo Almeida Toledo, Flavia Lima Coutinho, Adriana Bezerra Nunes, Rui M B Maciel, Ana Oliveira Hoff, Marcos C Tavares, Sergio P A Toledo, Delmar Muniz Lourenço
BACKGROUND: Scarce data on psychological harm in multiple endocrine neoplasia type 2 (MEN2) are available. OBJECTIVES: To assess anxiety, depression, quality of life and coping in long-standing MEN2 patients. PATIENTS AND METHODS: Forty-three adults (age ≥ 18 y) with clinical and genetic diagnosis of MEN2 and long-term follow-up (10.6±8.2 years; 1-33). A cross-sectional study with qualitative and quantitative psychological assessment using semi-directed interviews and HADS, EORTC QLQ C30 and MINI-MAC scales...
March 9, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28273452/enhancer-mediated-oncogenic-function-of-the-menin-tumor-suppressor-in-breast-cancer
#9
Koen M A Dreijerink, Anna C Groner, Erica S M Vos, Alba Font-Tello, Lei Gu, David Chi, Jaime Reyes, Jennifer Cook, Elgene Lim, Charles Y Lin, Wouter de Laat, Prakash K Rao, Henry W Long, Myles Brown
While the multiple endocrine neoplasia type 1 (MEN1) gene functions as a tumor suppressor in a variety of cancer types, we explored its oncogenic role in breast tumorigenesis. The MEN1 gene product menin is involved in H3K4 trimethylation and co-activates transcription. We integrated ChIP-seq and RNA-seq data to identify menin target genes. Our analysis revealed that menin-dependent target gene promoters display looping to distal enhancers that are bound by menin, FOXA1 and GATA3. In this fashion, MEN1 co-regulates a proliferative breast cancer-specific gene expression program in ER(+) cells...
March 7, 2017: Cell Reports
https://www.readbyqxmd.com/read/28273369/is-estrogen-exposure-a-protective-factor-for-pancreatic-neuroendocrine-tumors-in-female-multiple-endocrine-neoplasia-syndrome-type-1-patients
#10
Wei Qiu, Ioannis Christakis, Ashley A Stewart, Danica M Vodopivec, Angelica Silva-Figueroa, Huiqin Chen, Terri L Woodard, Daniel M Halperin, Jeffrey E Lee, James C Yao, Nancy D Perrier
OBJECTIVE: Pancreatic neuroendocrine tumors (PNETs) are the most common cause of death in multiple endocrine neoplasia type 1 (MEN1) patients. Women have been shown to have improved survival, which may suggest a possible protective effect of female sex hormones. The aim of this study was to evaluate the relationship between estrogen exposure and PNET tumorigenesis, tumor growth, and survival in female MEN1 patients with these tumors. DESIGN: We performed a retrospective chart review of the existing MEN1 database in our institution...
March 8, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28270438/menin-and-prmt5-suppress-glp1-receptor-transcript-and-pka-mediated-phosphorylation-of-foxo1-and-creb
#11
Abdul Bari Muhammad, Bowen Xing, Chengyang Liu, Ali Naji, Xiaosong Ma, Rebecca A Simmons, Xianxin Hua
Menin is a scaffold protein that interacts with several epigenetic mediators to regulate gene transcription, and suppresses pancreatic beta cell proliferation. Tamoxifen inducible deletion of multiple endocrine neoplasia type 1 (MEN1) gene, which encodes the protein menin, increases beta cell mass in multiple murine models of diabetes and ameliorates diabetes. Glucagon-like-peptide-1 (GLP1) is another key physiological modulator of beta cell mass and glucose homeostasis. However, it is not clearly understood whether menin crosstalks with GLP1 signaling...
March 7, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28270118/a-case-of-type-1-multiple-endocrine-neoplasia-with-esophageal-stricture-successfully-treated-with-endoscopic-balloon-dilation-and-local-steroid-injection-combined-with-surgical-resection-of-gastrinomas
#12
Hiroyuki Matsubayashi, Noboru Kawata, Naomi Kakushima, Masaki Tanaka, Kohei Takizawa, Yoshimi Kiyozumi, Yasue Horiuchi, Keiko Sasaki, Teiichi Sugiura, Katsuhiko Uesaka, Hiroyuki Ono
BACKGROUND: In type 1 multiple endocrine neoplasia (MEN1), esophageal diseases association with excessive gastrin secretion in Zollinger-Ellison syndrome (ZES) sometimes develop. Here, we reported a case of MEN1/ZES, who developed dysphagia due to reflux esophagitis with severe esophageal stricture. Treatment for his esophageal stricture and ZES was discussed. CASE PRESENTATION: A 43-year-old man with progressive dysphagia and diarrhea was referred to the teaching hospital...
March 7, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/28265775/altered-microrna-expression-patterns-during-the-initiation-and-promotion-stages-of-neonatal-diethylstilbestrol-induced-dysplasia-neoplasia-in-the-hamster-mesocricetus-auratus-uterus
#13
Ramesh Padmanabhan, Isabel R Hendry, Jennifer R Knapp, Bin Shuai, William J Hendry
Treatment of Syrian hamsters on the day of birth with the prototypical endocrine disruptor and synthetic estrogen, diethylstilbestrol (DES), leads to 100% occurrence of uterine hyperplasia/dysplasia in adulthood, a large proportion of which progress to neoplasia (endometrial adenocarcinoma). Consistent with our prior gene expression analyses at the mRNA and protein levels, we now report (based on microarray, real-time polymerase chain reaction, and in situ hybridization analyses) that progression of the neonatal DES-induced dysplasia/neoplasia phenomenon in the hamster uterus also includes a spectrum of microRNA expression alterations (at both the whole-organ and cell-specific level) that differ during the initiation (upregulated miR-21, 200a, 200b, 200c, 29a, 29b, 429, 141; downregulated miR-181a) and promotion (downregulated miR-133a) stages of the phenomenon...
March 6, 2017: Cell Biology and Toxicology
https://www.readbyqxmd.com/read/28263209/the-wandering-mesenteric-lymph-node-delayed-68-ga-dotanoc-pet-ct-imaging-to-overcome-a-potential-pitfall
#14
Lucia Zanoni, Maurizio Zompatori, Federica Scalorbi, Stefano Fanti, Valentina Ambrosini
A patient multiple endocrine neoplasia type 1 presenting with radiological suspicion of pancreatic neuroendocrine tumor relapse after surgical and somatostatin analog treatment underwent restaging Ga-DOTANOC PET/CT. Standard and delayed images detected an area of focal intense uptake moving from the left para-aortic to the paracaval region. The lesion was identified at previous imaging in different abdominal locations (eg, adjacent to the duodenal wall at presurgical PET and in the aortocaval region at restaging contrast-enhanced CT)...
March 3, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28263205/long-term-follow-up-of-men1-patients-who-do-not-have-initial-surgery-for-small-%C3%A2-2-cm-nonfunctioning-pancreatic-neuroendocrine-tumors-an-afce-and-gte-study-association-francophone-de-chirurgie-endocrinienne-groupe-d-etude-des-tumeurs-endocrines
#15
Frederic Triponez, Samira M Sadowski, François Pattou, Catherine Cardot-Bauters, Eric Mirallié, Maëlle Le Bras, Frédéric Sebag, Patricia Niccoli, Sophie Deguelte, Guillaume Cadiot, Gilles Poncet, Jean-Christophe Lifante, Françoise Borson-Chazot, Philippe Chaffanjon, Olivier Chabre, Fabrice Menegaux, Eric Baudin, Philippe Ruszniewski, Hélène Du Boullay, Pierre Goudet
OBJECTIVE: To report long-term follow-up of patients with multiple endocrine neoplasia type 1 (MEN1) and nonfunctioning pancreatic neuroendocrine tumors (NF-PET). BACKGROUND: Pancreaticoduodenal tumors occur in almost all patients with MEN1 and are a major cause of death. The natural history and clinical outcome are poorly defined, and management is still controversial for small NF-PET. METHODS: Clinical outcome and tumor progression were analyzed in 46 patients with MEN1 with 2 cm or smaller NF-PET who did not have surgery at the time of initial diagnosis...
March 15, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28260299/-the-trends-in-early-diagnosis-and-treatment-strategies-of-multiple-endocrine-neoplasia-type-2-practice-dilemma-and-prospective
#16
X P Qi, Z L Cao, F Li
No abstract text is available yet for this article.
February 28, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28257328/management-of-men1-related-nonfunctioning-pancreatic-nets-a-shifting-paradigm-results-from-the-dutchmen1-study-group
#17
Sjoerd Nell, Helena M Verkooijen, Carolina R C Pieterman, Wouter W de Herder, Ad R Hermus, Olaf M Dekkers, Anouk N van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Inne H M Borel Rinkes, Menno R Vriens, Gerlof D Valk
OBJECTIVE: To assess if surgery for Multiple Endocrine Neoplasia type 1 (MEN1) related nonfunctioning pancreatic neuroendocrine tumors (NF-pNETs) is effective for improving overall survival and preventing liver metastasis. BACKGROUND: MEN1 leads to multiple early-onset NF-pNETs. The evidence base for guiding the difficult decision who and when to operate is meager. METHODS: MEN1 patients diagnosed with NF-pNETs between 1990 and 2014 were selected from the DutchMEN1 Study Group database, including > 90% of the Dutch MEN1 population...
March 2, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28251020/regional-clinical-and-biochemical-differences-among-patients-with-primary-hyperparathyroidism
#18
Özer Makay, Beyza Özçınar, Turgay Şimşek, Cumhur Arıcı, Bülent Güngör, Serdar Özbaş, Tamer Akça, Ali Uğur Emre, Güldeniz Karadeniz Çakmak, Müfide Akçay, Bülent Ünal, Mustafa Girgin, Sadullah Girgin, Semih Görgülü, Atakan Sezer, Adem Karataş, İbrahim Ali Özemir, Nihat Aksakal, Serap Erel, M Ümit Uğurlu, Ali İlker Filiz, Can Atalay, Ali Uzunköy, Uğur Deveci, Çetin Kotan, Gökhan İçöz, Yavuz Kurt, Abut Kebudi, N Zafer Cantürk, Yeşim Erbil, Rumen Pandev, Bahadır M Güllüoğlu
BACKGROUND: Environmental habitat may play a role in clinical disparities of primary hyperparathyroidism (pHPT) patients. AIMS: To compare preoperative clinical symptoms and associated conditions and surgical findings in patients with pHPT, living in different geographical regions from the Black Sea, Mediterranean and Anatolia regions. STUDY DESIGN: Retrospective, clinical-based multi-centric study of 694 patients with pHPT. METHODS: Patients from 23 centers and 8 different geographical regions were included...
January 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28225311/prognostic-factors-for-survival-of-men1-patients-with-duodenopancreatic-tumors-metastatic-to-the-liver-results-from-the-dmsg-study-group
#19
Elfi B Conemans, Sjoerd Nell, Carolina R C Pieterman, Wouter W de Herder, Olaf M Dekkers, Ad R Hermus, Anouk N van der Horst-Schrivers, Peter H Bisschop, Bas Havekes, Madeleine L Drent, Menno R Vriens, Gerlof D Valk
Objective Duodenopancreatic neuroendocrine tumors (DP-NETs) develop in a majority of patients with Multiple Endocrine Neoplasia Type 1 (MEN1) and are the leading cause of death. Overall survival (OS) and prognostic factors for patients with liver metastases from DP-NETs are not known. Design and Methods Cohort study using the Dutch National MEN1 database, which includes >90% of the Dutch MEN1 population between 1990-2014. OS was assessed with time to event analysis, and prognostic factors were evaluated...
February 22, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28220018/germline-variants-in-familial-pituitary-tumour-syndrome-genes-are-common-in-young-patients-and-families-with-additional-endocrine-tumours
#20
Sunita Mc De Sousa, Mark J McCabe, Kathy Wu, Tony Roscioli, Velimir Gayevskiy, Katelyn Brook, Lesley Rawlings, Hamish S Scott, Tanya J Thompson, Peter Earls, Anthony J Gill, Mark J Cowley, Marcel E Dinger, Ann I McCormack
Objective: Familial pituitary tumour syndromes (FPTS) account for 5% of pituitary adenomas. Multi-gene analysis via next generation sequencing (NGS) may unveil greater prevalence and inform clinical care. We aimed to identify germline variants in selected patients with pituitary adenomas using a targeted NGS panel. Design: We undertook a nation-wide cross-sectional study of patients with pituitary adenomas with onset ≤40 years of age and/or other personal/family history of endocrine neoplasia. A custom NGS panel was performed on germline DNA to interrogate eight FPTS genes...
February 20, 2017: European Journal of Endocrinology
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