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Multiple Endocrine Neoplasia

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https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#1
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27904855/multiple-endocrine-neoplasia-type-1-with-anterior-mediastinal-parathyroid-adenoma-successful-localization-using-tc-99m-sestamibi-spect-ct
#2
Hye Lim Park, Ie Ryung Yoo, Sung Hoon Kim, Sohee Lee
The most common manifestation of multiple endocrine neoplasia type 1 (MEN1) is hyperparathyroidism. Treatment of hyperparathyroidism in MEN patients is surgical removal of the parathyroid glands, however ectopic parathyroid gland is challenging for treatment. A 51-year-old female, the eldest of 3 MEN1 sisters, had hyperparathyroidism with ectopic parathyroid adenoma in the mediastinal para-aortic region, which was detected by technetium-99m (Tc-99m) sestamibi scintigraphy and single-photon emission computed tomography/computed tomography (SPECT/CT)...
December 2016: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/27900224/perioperative-severe-hypotension-in-a-patient-with-multiple-endocrine-neoplasia-type-iib-and-bilateral-adrenalectomies-time-to-review-the-evidence-for-stress-dose-steroids
#3
Jens Tan, Acsa Zavala, Katherine B Hagan, Antoinette Van Meter, Uduak Ursula Williams, Wei Zhang, Pascal Owusu-Agyemang
Multiple endocrine neoplasia type IIb (MEN IIb) is an endocrine disorder which can manifest with tumors such as pheochromocytomas and neuromas. We present the case of a patient with MEN IIb, after bilateral adrenalectomies, on maintenance steroid replacement, who underwent a neuroma resection and developed severe hypotension. There is persistent controversy regarding the general administration of perioperative "stress dose" steroids for patients with adrenal insufficiency. While the most recent literature suggests that stress dose steroids are unnecessary for secondary adrenal insufficiency, the rarer form of primary adrenal insufficiency always requires supplemental steroids, specifically hydrocortisone, when undergoing surgical procedures...
2016: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/27899191/genetic-predisposition-to-endocrine-tumors-diagnosis-surveillance-and-challenges-in-care
#4
REVIEW
Elisabeth Joye Petr, Tobias Else
Endocrine tumor syndromes, eg, multiple endocrine neoplasia types 1 and 2, were among the first recognized hereditary predisposition syndromes to tumor development. Over time, the number of endocrine tumor syndromes has significantly expanded, eg, with the recent inclusion of hereditary paraganglioma syndromes. Associations of non-endocrine tumors with hereditary endocrine tumor syndromes and endocrine tumors with non-classical endocrine tumor syndromes have emerged. These findings have certainly expanded the scope of care, necessitating a multidisciplinary approach by a team of medical professionals and researchers, integrating shared patient decision-making at every step of surveillance, diagnosis, and treatment...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899172/identification-of-intestinal-ganglioneuromatosis-leads-to-early-diagnosis-of-men2b-role-of-rectal-biopsy
#5
Stefan Gfroerer, Till-Martin Theilen, Henning Fiegel, Patrick N Harter, Michel Mittelbronn, Udo Rolle
BACKGROUND/PURPOSE: Gastrointestinal symptoms are very common in patients with multiple endocrine neoplasia type 2B (MEN2B) syndrome. Herein, we present a case of intestinal ganglioneuromatosis (IGN) in MEN2B syndrome and a systematic literature review with a special focus on gastrointestinal symptoms prior to the diagnosis of MEN2B. METHODS: Literature search was performed (years 1966-2015) using the "Pubmed" and "Scopus" databases. Search terms used were gastrointestinal, intestinal and MEN2B...
November 17, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27896787/extracorporeal-membrane-oxygenation-for-pheochromocytoma-induced-cardiogenic-shock
#6
Guillaume Hekimian, Fatima Kharcha, Nicolas Bréchot, Matthieu Schmidt, Cécile Ghander, Guillaume Lebreton, Xavier Girerd, Christophe Tresallet, Jean-Louis Trouillet, Pascal Leprince, Jean Chastre, Alain Combes, Charles-Edouard Luyt
BACKGROUND: Pheochromocytoma, a rare catecholamine-producing tumor, might provoke stress-induced Takotsubo-like cardiomyopathy and severe cardiogenic shock. Because venoarterial-extracorporeal membrane oxygenation (VA-ECMO) rescue of pheochromocytoma-induced refractory cardiogenic shock has rarely been reported, we reviewed our ICU patients' presentations and outcomes. METHODS: All pheochromocytoma-induced refractory cardiogenic shock cases managed with VA-ECMO (January 2007-March 2015) were prospectively included and reviewed...
December 2016: Annals of Intensive Care
https://www.readbyqxmd.com/read/27869424/-study-of-medullary-thyroid-carcinoma-from-a-proband
#7
Laura Morlán Herrador, Antonio de Arriba, Gloria Miguel, Marta Ferrera, José I Labarta
Thyroid cancer is an uncommon type of cancer, accounting less than 1% of all cancers in adults, and 0.5-3% of all cancers in children. There are four different types: papillary carcinoma (80-90% of cases), follicular (5-10%), medullary (5%) and anaplastic cell (2-3%). Eighty per cent of cases of medullary thyroid cancer are sporadic, but 20% are associated with an inherited syndrome that is divided into three groups: multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27864651/all-in-the-family-analyzing-the-impact-of-family-history-in-addition-to-genotype-on-medullary-thyroid-carcinoma-aggressiveness-in-men2a-patients
#8
Kristin L Long, Carol Etzel, Thereasa Rich, Samuel Hyde, Nancy D Perrier, Paul H Graham, Jeffrey E Lee, Mimi I Hu, Gilbert J Cote, Robert Gagel, Elizabeth G Grubbs
Several guidelines for patients with multiple endocrine neoplasia 2A (MEN2A) take into account genotype and family history of medullary thyroid carcinoma (MTC) disease aggressiveness. We sought to determine if an association exists independent of genotype, which could provide important information for counseling MEN2A patients in management of their MTC. Pedigrees of patients with ≥5 family members with MEN2A were retrospectively reviewed. Analysis was performed among kindreds with the most frequently observed codon mutation (RET 634)...
November 18, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27863775/operation-for-insulinomas-in-multiple-endocrine-neoplasia-type-1-when-pancreatoduodenectomy-is-appropriate
#9
Francesco Tonelli, Francesco Giudici, Gabriella Nesi, Giacomo Batignani, Maria Luisa Brandi
BACKGROUND: Distal pancreatectomy is the most frequent operation for insulinomas complicating multiple endocrine neoplasia type 1 insulinoma, although there are conditions for which a different operative approach might be preferable. In this article, we report the operative experience of a referral center for multiple endocrine neoplasia type 1 insulinoma. METHODS: Twelve patients underwent operations between 1992 and 2015: 8 underwent a distal pancreatic resection, and 4 underwent a pancreatoduodenectomy...
November 15, 2016: Surgery
https://www.readbyqxmd.com/read/27846313/clinical-and-genetic-analysis-of-multiple-endocrine-neoplasia-type-1-related-primary-hyperparathyroidism-in-chinese
#10
Jing Kong, Ou Wang, Min Nie, Jie Shi, Yingying Hu, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Xiaoping Xing
OBJECTIVE: Multiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT. DESIGN AND METHODS: A total of 40 MHPT (27 sporadic, 7 families) and 169 SHPT cases of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary system...
2016: PloS One
https://www.readbyqxmd.com/read/27842919/operative-intervention-for-primary-hyperparathyroidism-offers-greater-bone-recovery-in-patients-with-sporadic-disease-than-in-those-with-multiple-endocrine-neoplasia-type-1-related-hyperparathyroidism
#11
Angelica M Silva, Danica Vodopivec, Ioannis Christakis, Genevieve Lyons, Qiu Wei, Steven G Waguespack, Steven M Petak, Elizabeth Grubbs, Jeffrey E Lee, Nancy Perrier
BACKGROUND: We investigated whether the outcome of bone disease of primary hyperparathyroidism differs in multiple endocrine neoplasia type 1-associated disease and sporadic hyperparathyroidism at 1-year postoperatively. METHODS: Multiple endocrine neoplasia type 1/hyperparathyroidism and sporadic hyperparathyroidism patients who underwent parathyroidectomy from 1990 to 2013 and dual-energy x-ray absorptiometry at baseline and 1-year postoperatively were included...
November 11, 2016: Surgery
https://www.readbyqxmd.com/read/27842554/men1-redefined-a-clinical-comparison-of-mutation-positive-and-mutation-negative-patients
#12
Joanne M de Laat, Rob B van der Luijt, Carolina R C Pieterman, Maria P Oostveen, Ad R Hermus, Olaf M Dekkers, Wouter W de Herder, Anouk N van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Menno R Vriens, Gerlof D Valk
BACKGROUND: Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative patients is comparable with mutation-positive patients and if these patients have true MEN1. The present study aims to describe and compare the clinical course of MEN1 mutation-negative patients with two out of the three main MEN1 manifestations and mutation-positive patients during long-term follow-up...
November 15, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27822452/multiple-endocrine-neoplasia-similar-to-human-subtype-2a-in-a-dog-medullary-thyroid-carcinoma-bilateral-pheochromocytoma-and-parathyroid-adenoma
#13
E A Soler Arias, V A Castillo, R H Trigo, M E Caneda Aristarain
Human multiple endocrine neoplasia subtype 2A (MEN 2A) is characterized by medullary thyroid carcinoma, pheochromocytoma and parathyroid hyperplasia or adenoma in the same individual. In this report, a case of a female Rottweiler with medullary thyroid carcinoma, bilateral pheochromocytoma and parathyroid adenoma was described. Clinical manifestations of muscle weakness, polydipsia, polyuria, diarrhea and weight loss were observed. Two adrenal neoplasms were identified incidentally by ultrasonography, and tumor in the left thyroid lobe was identified by palpation...
2016: Open veterinary journal
https://www.readbyqxmd.com/read/27811505/early-and-late-complications-after-surgery-for-men1-related-nonfunctioning-pancreatic-neuroendocrine-tumors
#14
Sjoerd Nell, Inne H M Borel Rinkes, Helena M Verkooijen, Bert A Bonsing, Casper H van Eijck, Harry van Goor, Ruben H J de Kleine, Geert Kazemier, Elisabeth J Nieveen van Dijkum, Cornelis H C Dejong, Gerlof D Valk, Menno R Vriens
OBJECTIVE: To estimate short and long-term morbidity after pancreatic surgery for multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-pNETs). BACKGROUND: Fifty percent of the MEN1 patients harbor multiple NF-pNETs. The decision to proceed to NF-pNET surgery is a balance between the risk of disease progression versus the risk of surgery-related morbidity. Currently, there are insufficient data on the surgical complications after MEN1 NF-pNET surgery...
November 1, 2016: Annals of Surgery
https://www.readbyqxmd.com/read/27809725/distribution-of-ret-mutations-in-multiple-endocrine-neoplasia-2-in-denmark-1994-2014-a-nationwide-study
#15
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Mette Gaustadnes, Torben Falck Ørntoft, Thomas V O Hansen, Finn Cilius Nielsen, Kim Brixen, Christian Godballe, Anja Lisbeth Frederiksen
Background Germline mutations of the REarranged during Transfection (RET) proto-oncogene cause multiple endocrine neoplasia 2 (MEN2). It is unclear whether the distribution of RET mutations varies among populations. We conducted the first nationwide study of the distribution of RET mutations and compared the results to those of other populations. Methods This retrospective cohort study included 1,583 patients, who underwent RET gene testing in one of three centers covering all of Denmark between September 1994 and December 2014...
November 3, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27808580/recurrence-of-phaeochromocytoma-in-pregnancy-in-a-patient-with-multiple-endocrine-neoplasia-2a-a-case-report-and-review-of-literature
#16
Efterpi Tingi, Angelos Kyriacou, Lynda Verghese
Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant inherited condition with a prevalence of one in 40 000 individuals. It causes the development of tumours in endocrine glands, such as medullary thyroid cancer, pheochromocytomas, as well as primary hyperparathyroidism. MEN 2A in pregnancy is very rare with only 29 cases reported in the literature. The presence of pheochromocytoma is a rare cause of hypertension during pregnancy with an incidence of 0.007% of all pregnancies. This has severe implications on both mother and the foetus...
November 3, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27807060/m918v-ret-mutation-causes-familial-medullary-thyroid-carcinoma-study-of-8-affected-kindreds
#17
M Cecília Martins-Costa, Lucas L Cunha, Susan C Lindsey, Cleber P Camacho, Renata P Dotto, Gilberto K Furuzawa, M Sharmila A Sousa, Teresa S Kasamatsu, Ilda S Kunii, Márcio M Martins, Alberto L Machado, João R M Martins, Magnus R Dias-da-Silva, Rui M B Maciel
Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically associated with multiple endocrine neoplasia type 2B (MEN 2B) with highly aggressive medullary thyroid cancer (MTC), pheochromocytoma and a unique phenotype. The objectives of this study are to describe the rare M918V RET mutation discovered in 8 MTC kindreds from Brazil lacking the MEN 2B phenotype classically observed in M918T patients and to investigate the presence of a founder effect for this germline mutation. Eight apparently sporadic MTC cases were diagnosed with the germline M918V RET mutation...
December 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27803029/prkar1a-gene-knockout-in-the-pancreas-leads-to-neuroendocrine-tumorigenesis
#18
Emmanouil Saloustros, Paraskevi Salpea, Matthew Starost, Sissi Liu, Fabio R Faucz, Edra London, Eva Szarek, Woo-Jin Song, Mehboob Hussain, Constantine A Stratakis
Carney complex (CNC) is a rare disease associated with multiple neoplasias, including a predisposition to pancreatic tumors; it is caused most frequently by the inactivation of the PRKAR1A gene, a regulator of the cyclic AMP (cAMP)-dependent kinase (PKA). The method used was to create null alleles of prkar1a in mouse cells expressing pdx1 (Δ-Prkar1a). We found that these mice developed endocrine or mixed endocrine/acinar cell carcinomas with 100% penetrance by the age of 4-5 months. Malignant behavior of the tumors was seen as evidenced by stromal invasion and metastasis to locoregional lymph nodes...
January 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27801341/-the-expression-of-p27-kip1-and-%C3%AE-catenin-in-multiple-endocrine-neoplasia-type-1-related-parathyroid-tumors
#19
J Kong, O Wang, M Nie, J Shi, Y Jiang, M Li, W B Xia, X W Meng, X P Xing
Objective: To explore tissue expression of cyclin-dependent kinase inhibitor p27(Kip1) and β-catenin in multiple endocrine neoplasia type1 (MEN1)-related parathyroid tumors (MHPT). Methods: Immunohistochemistry was performed to analyze the expression of p27(Kip1) and β-catenin in parathyroid glands from 31 subjects with MHPT collected at Peking Union Medical College Hospital from 2002 to 2013. Five normal parathyroid glands were used as control. Results: In MHPT subjects, nuclear expression of p27(Kip1) was absent in 4 (12...
November 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/27799361/de-novo-mutation-in-men1-is-not-associated-with-parental-somatic-mosaicism
#20
Yael Laitman, Anat Jaffe, Hagit Schayek, Eitan Friedman
Extract: Dear Editor, Multiple Endocrine Neoplasia Type 1 (MEN1- OMIM #131100) is characterized by the co-occurrence of tumors in at least two of the following three endocrine tissues: parathyroid, endocrine pancreas and anterior pituitary [Thakker 2014]. Familial MEN1 follows an autosomal dominant mode of inheritance and germline mutations in the MEN1 gene at 11q13 can be detected in affected family members [Chandrasekharappa et al 1997]. Mutations in the CDKN1B gene (CDKN1B, KIP1, OMIM #600778) have been also reported in MEN1 families but are far less frequent [Pellegata et al 2006]...
October 31, 2016: Endocrine-related Cancer
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