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Endocrine neoplasia

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https://www.readbyqxmd.com/read/28446479/severe-chronic-diarrhoea-secondary-to-primary-lymph-node-gastrinoma
#1
Mouhanna Abu Ghanimeh, Khalil Abuamr, Esmat Sadeddin, Osama Yousef
The existence of primary lymph node (LN) gastrinoma is questionable and controversial. In fact, the presence of gastrinoma in such uncommon site raises the possibility of metastasis from another occult primary site. An extensive evaluation and careful follow-up is always warranted. A female aged 48 years presented with chronic abdominal pain and watery diarrhoea. Her serum gastrin and chromogranin were elevated, and an underlying gastrinoma was suspected. Further evaluation with an octreotide scan, an endoscopic ultrasound and a secretin stimulation test confirmed the diagnosis...
April 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28438782/incidence-and-prevalence-of-multiple-endocrine-neoplasia-2b-in-denmark-a-nationwide-study
#2
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Mette Madsen, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Sten Schytte, Henrik Baymler Pedersen, Christoffer Holst Hahn, Jens Bentzen, Mette Gaustadnes, Torben Falck Ørntoft, Thomas van Overeem Hansen, Finn Cilius Nielsen, Kim Brixen, Anja Lisbeth Frederiksen, Christian Godballe
Extract: Multiple endocrine neoplasia 2B (MEN2B) is an autosomal dominant inherited cancer syndrome associating medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), ganglioneuromatosis of the aerodigestive tract and facial, ophthalmologic and skeletal abnormalities. MEN2B is caused by the M918T and A883F mutation of the REarranged during Transfection (RET) proto-oncogene in approximately 95% and <5% of cases, respectively. Only very few other mutations have been reported to cause MEN2B. In approximately 75% of MEN2B patients, mutations occur as de novo (Wells, et al...
April 24, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28435794/cushing-disease-in-a-patient-with-multiple-endocrine-neoplasia-type-2b
#3
Kannan Kasturi, Lucas Fernandes, Martha Quezado, Mary Eid, Leigh Marcus, Prashant Chittiboina, Mark Rappaport, Constantine A Stratakis, Brigitte Widemann, Maya Lodish
CONTEXT: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome characterized in part by metastatic medullary thyroid cancer (MTC) and pheochromocytoma. Cushing disease is a rare cause of endogenous hypercortisolism in children. CASE DESCRIPTION: We describe a 21-year-old African-American male who was diagnosed at age 10 with an ACTH-secreting pituitary microadenoma. At age 16 he developed medullary thyroid cancer and was found to have multiple endocrine neoplasia type 2B with the characteristic M918T mutation of the RET proto-oncogene...
June 2017: J Clin Transl Endocrinol Case Rep
https://www.readbyqxmd.com/read/28434176/persistent-and-recurrent-hyperparathyroidism
#4
REVIEW
Carole Guerin, Nunzia Cinzia Paladino, Aoife Lowery, Fréderic Castinetti, David Taieb, Fréderic Sebag
Despite remarkable progress in imaging modalities and surgical management, persistence or recurrence of primary hyperparathyroidism (PHPT) still occurs in 2.5-5% of cases of PHPT. The aim of this review is to expose the management of persistent and recurrent hyperparathyroidism. A literature search was performed on MEDLINE using the search terms "recurrent" or "persistent" and "hyperparathyroidism" within the past 10 years. We also searched the reference lists of articles identified by this search strategy and selected those we judged relevant...
April 22, 2017: Updates in Surgery
https://www.readbyqxmd.com/read/28429092/natural-history-of-men1-gep-net-single-center-experience-after-a-long-follow-up
#5
Francesco Giudici, Tiziana Cavalli, Francesca Giusti, Giorgio Gronchi, Giacomo Batignani, Francesco Tonelli, Maria Luisa Brandi
BACKGROUND: The multiple endocrine neoplasia type 1 syndrome (MEN1) natural history is poorly evaluated, and few single-institution experiences about hereditary gastroenteropancreatic neuroendocrine tumors (GEP-NET) are reported. Our purpose is to analyze the role of GEP-NET in MEN1-related death, as well as the behavior of these lesions during follow-up. METHODS: The study population consists of 77 patients diagnosed with MEN1 GEP-NET, regularly followed up since 1990...
April 20, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28426491/treatment-of-pancreatic-neuroendocrine-tumors-in-multiple-endocrine-neoplasia-type-1-some-clarity-but-continued-controversy
#6
Robert T Jensen, Jeffrey A Norton
No abstract text is available yet for this article.
May 2017: Pancreas
https://www.readbyqxmd.com/read/28420920/the-many-guises-of-primary-hyperparathyroidism-an-unchanged-scenario
#7
Tasnim Ahsan, Uzma Erum, Khawaja Mohammad Inam Pal, Rukhshanda Jabeen, Saima Ghaus Qureeshi, Urooj Lal Rehman, Zeenat Banu
OBJECTIVE: To study the causes, characteristics and outcome of treatment of patients with primary hyperparathyroidism. METHODS: This retrospective cohort analysis was conducted at the Jinnah Postgraduate Medical Centre, Karachi, and comprised data of patients with primary hyperparathyroidism between 2004 and 2014. .SPSS 17 was used for data analysis. RESULTS: Of the 25 patients,1(4%)was male and 24(96%) were female. The overall mean age was 41...
April 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28420716/a-men1-pancreatic-neuroendocrine-tumour-mouse-model-under-temporal-control
#8
Kate E Lines, Roeland P Vas Nunes, Morten Frost, Christopher J Yates, Mark Stevenson, Rajesh Thakker
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pancreatic islets and anterior pituitary. The MEN1 gene, encoding menin, is a tumour suppressor, but its precise role in initiating in vivo tumourigenesis remains to be elucidated. The availability of a temporally controlled conditional MEN1 mouse model would greatly facilitate the study of such early tumourigenic events, and overcome the limitations of other MEN1 knockout models, in which menin is lost from conception, or tumour development occurs asynchronously...
April 18, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28413386/severe-malignant-acanthosis-nigricans-associated-with-adenocarcinoma-of-the-endometrium-in-a-young-obese-female
#9
Jacqueline Deen, Thomas Moloney, David Burdon-Jones
Acanthosis nigricans (AN) is a dermatopathy associated with insulin-resistance, drugs, endocrine disorders, chromosomal abnormalities (benign AN), and neoplasia (malignant AN). Malignant AN (MAN) is a rare paraneoplastic skin syndrome most commonly associated with gastric adenocarcinoma and other intra-abdominal malignancies. We report the case of a 28-year-old female with AN associated with obesity, insulin resistance, and endometrial adenocarcinoma. Although rare, MAN is often an initial sign of malignancy and must trigger extensive investigation, particularly in patients with sudden development of possibly paraneoplastic dermatoses or in patients diagnosed with benign AN with any atypical features...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28395810/generation-of-non-integrated-induced-pluripotent-stem-cells-from-a-23-year-old-male-with-multiple-endocrine-neoplasia-type-1-syndrome
#10
Dongsheng Guo, Feima Wu, Haikun Liu, Ge Gao, Shanglong Kou, Fan Yang, Nasir Abbas, Tiancheng Zhou, Xiujuan Cai, Hui Zhang, Dajiang Qin, Jialiang Li, Kecheng Xu, Yin-Xiong Li
Urine resource cells were collected from a 23-year-old male with multiple endocrine neoplasia type 1 syndrome (MEN1) for generating iPS cells with episomal plasmids. Two stable iPSC lines with free of episomal plasmid were established. The patient has a heterozygous G>T mutation on the exon 9 of Men1 gene that was confirmed by sequencing analysis on all resulted cell lines. Karyotyping indicated the chromosomes with normal appearances and numbers. Their pluripotency was demonstrated by gene expression and their abilities for differentiating into three germ layers...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28395808/generation-of-non-integrated-induced-pluripotent-stem-cells-from-a-59-year-old-female-with-multiple-endocrine-neoplasia-type-1-syndrome
#11
Dongsheng Guo, Feima Wu, Haikun Liu, Ge Gao, Shanglong Kou, Fan Yang, Nasir Abbas, Tiancheng Zhou, Xiujuan Cai, Hui Zhang, Dajiang Qin, Jialiang Li, Kecheng Xu, Yin-Xiong Li
Urine resource cells were collected from a 59-year-old female patient with multiple endocrine neoplasia type 1 syndrome (MEN1) for generating iPS cells with episomal plasmids carrying Oct4, Sox2, Klf4 and miR-302-367. The patient sustained a heterozygous G>T transition mutation on the exon 9 of Men1 gene that was confirmed by sequencing analysis on the obtained iPSC lines. Karyotyping indicated the chromosomes with normal appearances and numbers. Their pluripotency was demonstrated by gene expression, as well as their abilities for differentiating into three germ layers...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28369925/cousins-not-twins-intra-and-inter-tumoral-heterogeneity-in-syndromic-neuroendocrine-tumours
#12
Aidan Flynn, Trisha Dwight, Diana Benn, Siddhartha Deb, Andrew J Colebatch, Stephen Fox, Jessica Harris, Emma L Duncan, Bruce Robinson, Annette Hogg, Jason Ellul, Henry To, Cuong Duong, Julie A Miller, Christopher Yates, Paul James, Alison Trainer, Anthony J Gill, Roderick Clifton-Bligh, Rodney J Hicks, Richard W Tothill
Hereditary endocrine neoplasias, including phaeochromocytoma/paraganglioma and medullary thyroid cancer, are caused by autosomal dominant mutations in several familial cancer genes. A common feature of these diseases is the presentation of multiple primary tumours, or multifocal disease representing independent tumour clones that have arisen from the same initiating genetic lesion, but have undergone independent clonal evolution. Such tumours provide an opportunity to discover common co-operative changes required for tumorigenesis, while controlling for the genetic background of the individual...
March 31, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28341725/paraneoplastic-endocrine-syndromes
#13
Georgios K Dimitriadis, Anna Angelousi, Martin O Weickert, Harpal S Randeva, Gregory A Kaltsas, Ashley B Grossman
The majority of neoplasms produce symptoms related to mass effects to surrounding tissues and/or through the development of metastases. However, occasionally neoplasms, with or without endocrine differentiation, acquire the ability to secrete a variety of bioactive substances or induce immune cross-reactivity with the normal tissues that can lead to the development of characteristic clinical syndromes. These syndromes are named endocrine paraneoplastic when the specific secretory components (hormones, peptides or cytokines) are unrelated to the anticipated tissue or organ of origin...
March 24, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28329921/neuroendocrine-tumors-in-the-stomach-duodenum-and-pancreas-accompanied-by-novel-men1-gene-mutation
#14
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
#15
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
#16
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
#17
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
#18
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...
May 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28298337/radiological-surveillance-in-multiple-endocrine-neoplasia-type-1-a-double-edged-sword
#19
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
#20
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
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