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Multiple Endocrine Neoplasia Type 1

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https://www.readbyqxmd.com/read/28923697/financial-burden-is-associated-with-worse-health-related-quality-of-life-in-adults-with-multiple-endocrine-neoplasia-type-1
#1
Benjamin J Peipert, Sneha Goswami, Irene Helenowski, Susan E Yount, Cord Sturgeon
BACKGROUND: Health-related quality of life and financial burden among patients with multiple endocrine neoplasia type 1 is poorly described. It is not known how financial burden influences health-related quality of life in this population. We hypothesized that the financial burden attributable to multiple endocrine neoplasia type 1 is associated with worse health-related quality of life. METHODS: United States adults (≥18 years) with multiple endocrine neoplasia type 1 were recruited from the AMENSupport MEN online support group...
September 15, 2017: Surgery
https://www.readbyqxmd.com/read/28919050/disease-and-treatment-factors-associated-with-lower-quality-of-life-scores-in-adults-with-multiple-endocrine-neoplasia-type-i
#2
Sneha Goswami, Benjamin J Peipert, Irene Helenowski, Susan E Yount, Cord Sturgeon
BACKGROUND: Physical and psychosocial morbidity of multiple endocrine neoplasia type-1 is ill-defined. How disease and treatment-related factors relate to patient-reported outcomes including health-related quality of life is unknown. We hypothesized that disease and treatment burden negatively impacts health-related quality of life in adults with multiple endocrine neoplasia type-1. METHODS: Adults (≥18 years) with multiple endocrine neoplasia type-1 completed an online survey of demographics, disease features, treatments, and Patient-Reported Outcomes Measurement Information System 29-item profile measure, and scores were compared with normative US data...
September 14, 2017: Surgery
https://www.readbyqxmd.com/read/28919049/perioperative-outcomes-of-syndromic-paraganglioma-and-pheochromocytoma-resection-in-patients-with-von-hippel-lindau-disease-multiple-endocrine-neoplasia-type-2-or-neurofibromatosis-type-1
#3
James J Butz, Qi Yan, Travis J McKenzie, Toby N Weingarten, Alexandre N Cavalcante, Irina Bancos, William F Young, Darrell R Schroeder, David P Martin, Juraj Sprung
BACKGROUND: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms. METHODS: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. RESULTS: Eighty-one patients underwent pheochromocytoma/paraganglioma resection (multiple endocrine neoplasia type 2A, n = 36; neurofibromatosis type 1, n = 26; von Hippel-Lindau disease, n = 19)...
September 14, 2017: Surgery
https://www.readbyqxmd.com/read/28902384/-multiple-endocrine-neoplasia
#4
Ludwig Schaaf, Friedhelm Raue
Multiple endocrine neoplasia type 1 and 2 are hereditary cancer syndromes. They are characterized by the occurrence of many benign and malignant tumor types, in MEN1 parathyroid tumors, pituitary tumors, and pancreas tumors, in MEN2 medullary thyroid carcinoma, pheochromocytoma, and parathyroid tumors. The autosomal dominant inherited tumor syndromes are caused by mutations in the MEN1 gene, a tumor suppressor gene, and mutations in the RET gene, an activated oncogene, in MEN2. The clinical expression of the different tumors can vary within and between families, with a good genotype-phenotype correlation in MEN2...
September 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28899949/the-future-genetics-advances-in-men1-therapeutic-approaches-and-management-strategies
#5
REVIEW
Sunita K Agarwal
The identification of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997 has shown that germline heterozygous mutations in the MEN1 gene located on chromosome 11q13 predisposes to the development of tumors in the MEN1 syndrome. Tumor development occurs upon loss of the remaining normal copy of the MEN1 gene in MEN1-target tissues. Therefore, MEN1 is a classic tumor suppressor gene in the context of MEN1. This tumor suppressor role of the protein encoded by the MEN1 gene, menin, holds true in mouse models with germline heterozygous Men1 loss, wherein MEN1-associated tumors develop in adult mice after spontaneous loss of the remaining non-targeted copy of the Men1 gene...
October 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28881068/molecular-genetics-of-syndromic-and-non-syndromic-forms-of-parathyroid-carcinoma
#6
REVIEW
Luís Cardoso, Mark Stevenson, Rajesh V Thakker
Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e. non-syndromic) non-hereditary (i.e. sporadic) endocrinopathy. Studies of hereditary, and syndromic forms of PC, which include the hyperparathyroidism-jaw tumour syndrome (HPT-JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), have revealed some genetic mechanisms underlying PC. Thus, cell division cycle 73 (CDC73) germline mutations cause HPT-JT, and CDC73 mutations occur in 70% of sporadic PC, but in only ∼2% of parathyroid adenomas...
September 7, 2017: Human Mutation
https://www.readbyqxmd.com/read/28870973/primary-hyperparathyroidism-in-young-patients-in-russia-high-frequency-of-hyperparathyroidism-jaw-tumour-syndrome
#7
Elizaveta Mamedova, Natalya Mokrysheva, Evgeny V Vasilyev, Vasiliy Petrov, Ekaterina Pigarova, Sergey Kuznetsov, Nikolay Kuznetsov, Liudmila Rozhinskaya, Galina A Melnichenko, Ivan Dedov, Anatoly Tiulpakov
BACKGROUND: Primary hyperparathyroidism (PHPT) is a relatively rare disorder among children, adolescents and young adults. Its development at an early age is suspicious for hereditary causes, though the need for routine genetic testing remains controversial. OBJECTIVE: To identify and describe hereditary forms of PHPT in patients with manifestation of the disease under 40 years of age. DESIGN: We enrolled 65 patients with PHPT diagnosed before 40 years of age...
September 4, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28859856/gastrin-induces-nuclear-export-and-proteasome-degradation-of-menin-in-enteric-glial-cells
#8
Sinju Sundaresan, Cameron A Meininger, Anthony J Kang, Amanda L Photenhauer, Michael M Hayes, Nirakar Sahoo, Jolanta Grembecka, Tomasz Cierpicki, Lin Ding, Thomas J Giordano, Tobias Else, David J Madrigal, Malcolm J Low, Fiona Campbell, Ann-Marie Baker, Haoxing Xu, Nicholas A Wright, Juanita L Merchant
BACKGROUND & AIMS: The multiple endocrine neoplasia, type 1 (MEN1) locus encodes the nuclear protein and tumor suppressor menin. MEN1 mutations frequently cause neuroendocrine tumors (NETs) such as gastrinomas, characterized by their predominant duodenal location and local metastasis at time of diagnosis. Diffuse gastrin cell hyperplasia precedes the appearance of MEN1 gastrinomas, which develop within submucosal Brunner's glands. We investigated how menin regulates expression of the gastrin gene and induces generation of submucosal gastrin-expressing cell hyperplasia...
August 28, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28811300/epigenetic-regulation-by-the-menin-pathway
#9
REVIEW
Zijie Feng, Jian Ma, Xianxin Hua
There is a trend of increasing prevalence of neuroendocrine tumors (NETs), and the inherited multiple endocrine neoplasia type 1 (MEN1) syndrome serves as a genetic model to investigate how NETs develop and the underlying mechanisms. Menin, encoded by the MEN1 gene, at least partly acts as a scaffold protein by interacting with multiple partners to regulate cellular homeostasis of various endocrine organs. Menin has multiple functions including regulation of several important signaling pathways by controlling gene transcription...
October 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811299/twenty-years-of-menin-emerging-opportunities-for-restoration-of-transcription-in-men1
#10
Koen M A Dreijerink, Marc Timmers, Myles Brown
Since the discovery of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997, elucidation of the molecular function of its protein product, menin, has been a challenge. Biochemical, proteomics, genetics and genomics approaches have identified various potential roles, which converge on gene expression regulation. The most consistent findings show that menin connects transcription factors and chromatin modifying enzymes, in particular the histone H3K4 methyltransferase complexes MLL1 and MLL2. Chromatin immunoprecipitation combined with next generation sequencing has enabled studying genome-wide dynamics of chromatin binding by menin...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811298/the-future-surgical-advances-in-men1-therapeutic-approaches-and-management-strategies
#11
Samira Mercedes Sadowski, Guillaume Cadiot, Eric Dansin, Pierre Goudet, Frédéric Triponez
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary autosomal dominant disorder associated with numerous neuroendocrine tumors (NETs). Recent advances in the management of MEN1 have led to a decrease in mortality due to excess hormones; however, they have also led to an increase in mortality from malignancy, particularly NETs. The main challenges are to localize these tumors, to select those that need therapy because of the risk of aggressive behavior, and to select the appropriate therapy associated with minimal morbidity...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811081/prognostic-value-of-who-grade-in-pancreatic-neuro-endocrine-tumors-in-multiple-endocrine-neoplasia-type-1-results-from-the-dutchmen1-study-group
#12
Elfi B Conemans, Lodewijk A A Brosens, Gabriela M Raicu-Ionita, 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, H Th Marc Timmers, G Johan Offerhaus, Gerlof D Valk, Menno R Vriens
BACKGROUND: The prognostic value of WHO grade in pancreatic neuroendocrine tumors (PanNETs) in patients with Multiple Endocrine Neoplasia Type 1 (MEN1) is unknown. METHODS: We performed a cohort study using the Dutch National MEN1 database, which includes >90% of the Dutch MEN1 population with data collected between 1990 and 2014. Formalin-fixed paraffin embedded tissue blocks from the largest resected PanNET per patient were collected. MIB1 staining was performed and KI67 labeling index (LI) was determined by manual eye-counting under a microscope and by digital image analysis...
July 31, 2017: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/28795691/evaluation-of-in-vitro-and-in-vivo-activity-of-a-multityrosine-kinase-inhibitor-al3810-against-human-thyroid-cancer
#13
Qin Xie, Hui Chen, Jing Ai, Ying-Lei Gao, Mei-Yu Geng, Jian Ding, Yi Chen
Thyroid cancer is the most common type of endocrine neoplasia. Despite recent breakthroughs in treatment of the disease, the treatment of advanced, progressive thyroid cancers remains challenging with limited therapeutic options available. In this study, we evaluated a novel and orally bioavailable small-molecule multiple tyrosine kinases inhibitor, AL3810, in preclinical models of thyroid cancer in vitro and in vivo. AL3810 (2-5 μmol/L) dose-dependently inhibited the proliferation of human thyroid cancer cell lines TT, SW579 and TPC-1 in vitro with IC50 values ranging from 0...
August 10, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28793277/o-2-18-f-fluoroethyl-l-tyrosine-18-f-fet-uptake-in-insulinoma-first-results-from-a-xenograft-mouse-model-and-from-human
#14
Alessio Imperiale, Frédéric Boisson, Guillaume Kreutter, Bernard Goichot, Izzie Jacques Namer, Philippe Bachellier, Patrice Laquerriere, Laurence Kessler, Patrice Marchand, David Brasse
INTRODUCTION: Herein we have evaluated the uptake of O-(2-(18)F-fluoroethyl)-l-tyrosine ((18)F-FET) in insulinoma in comparison with those of 6-(18)F-fluoro-3,4-dihydroxy-l-phenylalanine ((18)F-FDOPA) providing first data from both murine xenograft model and one patient with proved endogenous hyperinsulinemic hypoglycemia. METHODS: Dynamic (18)F-FET and carbidopa-assisted (18)F-FDOPA PET were performed on tumor-bearing nude mice after subcutaneous injection of RIN-m5F murine beta cells and on a 30-year-old man with type-1 multiple endocrine neoplasia and hyperinsulinemic hypoglycemia defined by a positive fasting test...
July 12, 2017: Nuclear Medicine and Biology
https://www.readbyqxmd.com/read/28790162/the-future-diagnostic-and-imaging-advances-in-men1-therapeutic-approaches-and-management-strategies
#15
Jerena Manoharan, Max B Albers, Detlef K Bartsch
Prospective randomized data are lacking, but current clinical expert guidelines recommend annual screening examinations, including laboratory assessments and various imaging modalities (e.g. CT, MRI, scintigraphy and EUS) for patients with multiple endocrine neoplasia type 1 (MEN1). Routine screening is proposed to detect and localize neuroendocrine manifestations as early as possible. The goal is timely intervention to improve quality of life and to increase life expectancy by preventing the development of life threatening hormonal syndromes and/or metastatic disease...
August 8, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28782520/direct-interaction-of-menin-leads-to-ubiquitin-proteasomal-degradation-of-%C3%AE-catenin
#16
Byungho Kim, Tae-Yang Song, Kwan Young Jung, Seul Gi Kim, Eun-Jung Cho
Menin, encoded by the multiple endocrine neoplasia type 1 (MEN1) gene, is a tumor suppressor and transcription regulator. Menin interacts with various proteins as a scaffold protein and is proposed to play important roles in multiple physiological and pathological processes by controlling gene expression, proliferation, and apoptosis. The mechanisms underlying menin's suppression of tumorigenesis are largely elusive. In this study, we showed that menin was essential for the regulation of canonical Wnt/β-catenin signaling in cultured cells...
August 4, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28776139/catching-the-zebra-clinical-pearls-and-pitfalls-for-the-successful-diagnosis-of-zollinger-ellison-syndrome
#17
REVIEW
Aaron H Mendelson, Mark Donowitz
Zollinger-Ellison syndrome (ZES) results from an ectopic gastrin-secreting tumor leading to peptic ulcer disease, reflux, and chronic diarrhea. While early recognition portends an excellent prognosis with >80% survival at 15 years, symptoms are often nonspecific making the diagnosis difficult to establish. Diagnosis involves a series of tests, including fasting gastrin, gastric pH, chromogranin A, and secretin stimulation. Performing these tests in the correct sequence and at the proper time is essential to avoid inaccurate results...
August 3, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28768698/the-future-advances-in-therapeutic-approach-and-management-strategies-for-men1
#18
Rachel S van Leeuwaarde, Joanne M de Laat, Carolina R C Pieterman, Koen M A Dreijerink, Menno Vriens, Gerlof D Valk
Multiple endocrine neoplasia type 1 is a rare autosomal inherited disorder associated with a high risk for patients to simultaneously develop tumours of the parathyroid glands, duodeno-pancreatic neuroendocrine tumors and tumors of the anterior pituitary gland. Early identification of MEN1 in patients enables presymptomatic screening of manifestations which makes timely interventions possible with the intention to prevent morbidity and mortality. Causes of death nowadays have shifted towards local or metastatic progression of malignant neuro endocrine tumors...
August 2, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28755389/no-calcitonin-change-in-a-person-taking-dulaglutide-diagnosed-with-pre-existing-medullary-thyroid-cancer
#19
S I Sherman, R T Kloos, R M Tuttle, A Pontecorvi, H Völzke, K Harper, C Vance, J T Alston, A L Usborne, K W Sloop, M Lakshmanan
BACKGROUND: Glucagon-like peptide-1 receptor agonists, such as dulaglutide, exenatide and liraglutide, are approved to treat Type 2 diabetes mellitus. Although these drugs provide substantial glycaemic control, studies in rodents have prompted concerns about the development of medullary thyroid carcinoma. These data are reflected in the US package insert, with boxed warnings and product labelling noting the occurrence of these tumours after clinically relevant exposures in rodents, and contraindicating glucagon-like peptide-1 receptor agonist use in people with a personal or family history of medullary thyroid carcinoma or in people with multiple endocrine neoplasia type 2...
July 29, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28736585/late-onset-asymptomatic-pancreatic-neuroendocrine-tumor-a-case-report-on-the-phenotypic-expansion-for-men1
#20
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant...
2017: Hereditary Cancer in Clinical Practice
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