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Multiple Endocrine Neoplasia Type 1

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https://www.readbyqxmd.com/read/29351945/concurrent-endocrine-neoplasias-in-dogs-and-cats-a-retrospective-study-2004-2014
#1
Laura Beatrice, Felicitas Schär Boretti, Nadja S Sieber-Ruckstuhl, Claudia Mueller, Claudia Kümmerle-Fraune, Monika Hilbe, Paula Grest, Claudia E Reusch
Multiple endocrine neoplasia (MEN) is a well-known syndrome in human medicine, whereas only a few cases of concurrent endocrine neoplasias have been reported in dogs and cats. The aim of this study was to evaluate the prevalence of concurrent endocrine neoplasias in dogs and cats at our clinic, identify possible breed and sex predispositions and investigate similarities with MEN syndromes in humans. Postmortem reports of 951 dogs and 1155 cats that died or were euthanased at the Clinic for Small Animal Internal Medicine, University of Zurich, between 2004 and 2014 were reviewed, and animals with at least two concurrent endocrine neoplasias and/or hyperplasias were included...
January 19, 2018: Veterinary Record
https://www.readbyqxmd.com/read/29335487/increased-expression-of-glp-1r-in-proliferating-islets-of-men1-mice-is-detectable-by-68ga-ga-do3a-vs-cys40-exendin-4-pet
#2
Azita Monazzam, Joey Lau, Irina Velikyan, Su-Chen Li, Masoud Razmara, Ulrika Rosenström, Olof Eriksson, Britt Skogseid
Multiple endocrine neoplasia type 1 (MEN1) is an endocrine tumor syndrome caused by heterozygous mutations in the MEN1 tumor suppressor gene. The MEN1 pancreas of the adolescent gene carrier frequently contain diffusely spread pre-neoplasias and microadenomas, progressing to macroscopic and potentially malignant pancreatic neuroendocrine tumors (P-NET), which represents the major death cause in MEN1. The unveiling of the molecular mechanism of P-NET which is not currently understood fully to allow the optimization of diagnostics and treatment...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29324681/ppoma-review-epidemiology-aetiopathogenesis-prognosis-and-treatment
#3
REVIEW
Thais Ligiero Braga, Ralph Santos-Oliveira
Generally, pancreatic polypeptide-secreting tumor of the distal pancreas (PPoma) is classified as a rare tumor, and may occur sporadically or be associated in families or with multiple endocrine neoplasia type 1 (NEM 1). It grows slowly, reaching large dimensions at the time of diagnosis and the symptomatology is fundamentally due to the mass effect, causing either non-specific abdominal pain or symptoms suggestive of obstruction of the pancreatic or biliary duct. Therefore, when detected, they are usually malignant, with metastases mainly in the liver...
January 11, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29310810/radiological-features-and-metastatic-patterns-of-thymic-neuroendocrine-tumours
#4
T Araki, L M Sholl, H Hatabu, M Nishino
AIM: To investigate the clinical and image features of thymic neuroendocrine tumours (NETs), and characterise the radiological patterns of recurrence and metastasis on serial imaging studies. MATERIALS AND METHODS: The study included 14 patients (11 males) with a histopathological diagnosis of thymic NETs (one typical carcinoid, eight atypical carcinoid, and five large cell neuroendocrine carcinoma). Preoperative images were assessed for features of primary tumours...
January 5, 2018: Clinical Radiology
https://www.readbyqxmd.com/read/29239255/nonfunctional-pancreatic-endocrine-tumor-in-the-peripancreatic-region-in-a-chinese-patient-with-multiple-endocrine-neoplasia-type-1
#5
Bao-Ping Wang, Wei-Jun Tian, Jie Zhang, Chang-Xin Jiang, Hui-Qi Qu, Mei Zhu
Nonfunctional pancreatic neuroendocrine tumors (NF-pNETs) in patients with multiple endocrine neoplasia type 1 (MEN1), which results from a mutation in the MEN1 gene, are commonly small, multiple tumors located in the pancreatic head and inside the pancreatic parenchyma. We herein describe a 35-year-old woman with bone pain and a 7-year history of a prolactinoma. She was clinically diagnosed with MEN1 based on the presence of the prolactinoma and parathyroid hyperplasia. Abdominal computed tomography revealed a 5-cm mass close to the splenic hilum...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29239035/heritable-forms-of-primary-hyperparathyroidism-a-current-perspective
#6
REVIEW
Ronald A DeLellis, Shamlal Mangray
Primary hyperparathyroidism (PHPT) is one of the most common of all endocrine disorders encountered by the practising histopathologist. The vast majority of lesions are sporadic in nature, approximately 85% of which are parathyroid adenomas, while hyperplasia and carcinoma account for 10-15% and fewer than 1%, of cases, respectively. Heritable forms of PHPT are much less common and present challenges both to clinicians and pathologists, particularly when they are the presenting feature of an endocrine syndrome...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29239031/molecular-alterations-of-neuroendocrine-tumours-of-the-lung
#7
REVIEW
Giulio Rossi, Luca Bertero, Caterina Marchiò, Mauro Papotti
Neuroendocrine tumours of the lung comprise low [typical carcinoid (TC)], intermediate [atypical carcinoid (AC)] and high-grade [small-cell lung cancer (SCLC) and large-cell neuroendocrine carcinoma (LCNEC)] malignancies, while a pre-invasive lesion [diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)] may generate a subset of peripheral carcinoid tumours. These neoplasms are differentiated conventionally based on mitotic rate, presence of necrosis and cytological details, according to the 2015 World Health Organisation (WHO) classification...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29232343/simultaneous-glucagon-and-vasoactive-intestinal-peptide-producing-pancreatic-neuroendocrine-tumors-in-a-patient-with-multiple-endocrine-neoplasia-type-1-a-case-report-and-literature-review
#8
Grace Y Kim, Sungeun Kim, Raquel Kristin S Ong, Hassan Shawa
No abstract text is available yet for this article.
January 2018: Pancreas
https://www.readbyqxmd.com/read/29232342/intraoperative-near-infrared-fluorescence-imaging-of-multiple-pancreatic-neuroendocrine-tumors-a-case-report
#9
Henricus J M Handgraaf, Leonora S F Boogerd, Shirin Shahbazi Feshtali, Arantza Fariña Sarasqueta, Marieke Snel, Rutger-Jan Swijnenburg, Alexander L Vahrmeijer, Bert A Bonsing, J Sven D Mieog
Multiple endocrine neoplasia type 1 syndrome can feature pancreatic neuroendocrine lesions that have the potential to degenerate into malignancies (pancreatic neuroendocrine tumors [PNETs]). Resection is required in selected cases and aims to cure patients and to prevent metastasis. Preoperative imaging is important to assess the number, size, and location of PNETs. However, sensitivity of preoperative imaging modalities to detect small lesions can be rather disappointing. This makes intraoperative reassessment of the pancreas crucial...
January 2018: Pancreas
https://www.readbyqxmd.com/read/29225978/coexistence-of-gh-producing-pituitary-macroadenoma-and-meningioma-in-a-patient-with-multiple-endocrine-neoplasia-type-1-with-hyperglycemia-and-ketosis-as-first-clinical-sign
#10
A Herrero-Ruiz, H S Villanueva-Alvarado, J J Corrales-Hernández, C Higueruela-Mínguez, J Feito-Pérez, J M Recio-Cordova
We present the clinical case of a patient who was admitted with an onset of diabetes mellitus (DM) with associated ketosis and whose clinical, hormonal, and radiological evolution revealed the presence of primary hyperparathyroidism, pancreatic neuroendocrine tumor, and GH-producing pituitary macroadenoma in the context of multiple endocrine neoplasia type 1 (MEN1). DM is relatively common in cases of acromegaly, but it is not generally associated with ketosis. Simultaneously, the patient presented a meningioma, which is associated with pituitary macroadenoma only in extremely rare cases...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29197744/transcriptional-landscape-of-a-retc634y-mutated-ipsc-and-its-crispr-corrected-isogenic-control-reveals-the-putative-role-of-egr1-transcriptional-program-in-the-development-of-multiple-endocrine-neoplasia-type-2a-associated-cancers
#11
Julien Hadoux, Christophe Desterke, Olivier Féraud, Mathieu Guibert, Roberta Francesca De Rose, Paule Opolon, Dominique Divers, Emilie Gobbo, Frank Griscelli, Martin Schlumberger, Annelise Bennaceur-Griscelli, Ali G Turhan
MEN2A is a hereditary cancer-predisposing syndrome that affects patients with germline RET mutations. The effects of this oncogenic tyrosine kinase in the context of primitive stem cells are not known. In order to study these events, we generated a MEN2A induced Pluripotent Stem Cell (iPSC) line from a patient with RET mutation and an isogenic counterpart by CRISPR-Cas9 correction of the mutation. Whole exome sequencing of iPSC before and after CRISPR-Cas9 genome edition revealed no major exonic off target effect of the CRISPR correction...
November 23, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29181825/a-primary-hepatic-gastrinoma-accompanied-by-hyperplasia-of-multi-nodular-brunner-s-glands
#12
Takaomi Hagi, Yohei Hosoda, Izumi Komoto, Shinji Uemoto, Susumu Hijioka, Yoshiro Taki, Kazuhiro Nishiyama, Masayuki Imamura
BACKGROUND: Primary hepatic gastrinoma causing severe ulcerogenic syndrome is extremely rare. Herein, we report a case of primary hepatic gastrinoma accompanied by hyperplasia of multi-nodular Brunner's glands in a patient who instead, preoperatively, was suspected of having multiple duodenal gastrinomas and hepatic metastasis. CASE PRESENTATION: A 57-year-old woman consulted a clinic complaining of melena, intermittent abdominal pain, diarrhea, and vomiting which had persisted for about 3 years...
November 28, 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/29174091/pancreatic-hemi-agenesis-in-men1-a-clinical-report
#13
Wouter J Vinck, Frank Van de Mierop, François Van Mieghem, Maarten Vinck, Herman Becq, Geneviève Michils
We first describe a patient with multiple endocrine neoplasia type 1 (MEN1) and dorsal pancreatic hemi-agenesis. Previously, pancreas divisum has been reported in MEN1. Recent data in mice have elucidated the molecular mechanisms of pancreatic endoderm specification. Disinhibition of hedgehog signaling appears to be important in how Gata4 and Gata6 variants cause pancreatic agenesis. Disinhibition of hedgehog signaling has also been observed in Men1 knockout pancreatic islets. Although we cannot exclude a spurious association between dorsal pancreatic hemi-agenesis and MEN1 in our patient, we argue that developmental abnormalities of the pancreas may have to be considered as possibly related to the MEN1 phenotype...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29149451/transcriptional-alterations-in-hereditary-and-sporadic-nonfunctioning-pancreatic-neuroendocrine-tumors-according-to-genotype
#14
Xavier M Keutgen, Suresh Kumar, Sudheer Gara, Myriem Boufraqech, Sunita Agarwal, Ralph H Hruban, Naris Nilubol, Martha Quezado, Richard Finney, Maggie Cam, Electron Kebebew
BACKGROUND: Nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) may be sporadic or inherited because of germline mutations associated with von Hippel-Lindau disease (VHL) or multiple endocrine neoplasia type 1 (MEN1). The clinical behavior of NFPanNETs is difficult to predict, even in tumors of the same stage and grade. The authors analyzed genotype-specific patterns of transcriptional messenger RNA (mRNA) levels of NFPanNETs to understand the molecular features that determine PanNET phenotype...
November 17, 2017: Cancer
https://www.readbyqxmd.com/read/29143084/can-we-do-even-better-preoperative-imaging-overestimates-the-tumor-size-in-pancreatic-neuroendocrine-neoplasms-associated-with-multiple-endocrine-neoplasia-type-1
#15
https://www.readbyqxmd.com/read/29138914/impact-of-tailored-parathyroidectomy-for-treatment-of-primary-hyperparathyroidism-in-patients-with-multiple-endocrine-neoplasia-type-1
#16
Kiyomi Horiuchi, Momoko Sakurai, Kento Haniu, Erin Nagai, Hiroki Tokumitsu, Yusaku Yoshida, Yoko Omi, Akiko Sakamoto, Takahiro Okamoto
BACKGROUND: Whether total parathyroidectomy (TPTX) or subtotal parathyroidectomy (SPTX) should be performed for primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia type 1 (MEN1) is controversial. At our institution, the parathyroidectomy strategy is based on the number of enlarged intraoperative parathyroid glands. We retrospectively analyzed our parathyroidectomy procedures. METHODS: Data of PHPT treatment in patients with MEN1 who underwent parathyroidectomy from 1982 to 2012 at our department were retrospectively collected...
November 14, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29136674/familial-hyperparathyroidism-disorders-of-growth-and-secretion-in-hormone-secretory-tissue
#17
Stephen J Marx, Delmar Muniz Lourenco
Six syndromes of familial hyperparathyroidism are compared: 1) Familial hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH secretion from outwardly normal parathyroid glands. It reflects germline heterozygous mutation in CASR, GNA11, or AP2S1. 2) Neonatal severe primary hyperparathyroidism is severest of the six syndromes. It requires urgent total parathyroidectomy in infancy. It usually reflects biallelic inactivation of the CASR...
November 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29134609/expression-of-p27-kip1-and-p18-ink4c-in-human-multiple-endocrine-neoplasia-type-1-related-pancreatic-neuroendocrine-tumors
#18
E B Conemans, G M Raicu-Ionita, C R C Pieterman, K M A Dreijerink, O M Dekkers, A R Hermus, W W de Herder, M L Drent, A N A van der Horst-Schrivers, B Havekes, P H Bisschop, G J Offerhaus, I H M Borel Rinkes, G D Valk, H Th M Timmers, M R Vriens
PURPOSE: Pancreatic neuroendocrine tumors are a major manifestation of multiple endocrine neoplasia type 1 (MEN1). This tumor syndrome is caused by germline mutations in MEN1, encoding menin. Insight into pathogenesis of these tumors might lead to new biomarkers and therapeutic targets for these patients. Several lines of evidence point towards a role for p27(Kip1) and p18(Ink4c) in MEN1-related tumor development in animal models for MEN1, but their contribution to human MEN1-related pancreatic neuroendocrine tumor development is not known...
November 13, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29128174/health-related-quality-of-life-in-men1-patients-compared-with-other-chronic-conditions-and-the-united-states-general-population
#19
Benjamin J Peipert, Sneha Goswami, Susan E Yount, Cord Sturgeon
BACKGROUND: Health-related quality of life (HRQOL) in multiple endocrine neoplasia type-1 (MEN-1) is poorly described. HRQOL in MEN-1 was compared with other chronic conditions and the US general population. METHODS: Adults aged ≥18 years recruited from an MEN-1 support group (n=153) completed the Patient-Reported Outcomes Measurement Information System (PROMIS) 29-item profile. MEN-1 scores were compared with PROMIS scores reported in peer-reviewed literature from back pain (n=218), cancer (n=310), congestive heart failure (CHF; n=60), chronic obstructive pulmonary disease (COPD; n=79), major depressive disorder (n=196), rheumatoid arthritis (RA; n=521), neuroendocrine tumors (NET; n=619), and primary hyperparathyroidism (PHPT; n=45) cohorts...
November 8, 2017: Surgery
https://www.readbyqxmd.com/read/29122330/genotype-phenotype-pancreatic-neuroendocrine-tumor-relationship-in-multiple-endocrine-neoplasia-type-1-patients-a-23-year-experience-at-a-single-institution
#20
Ioannis Christakis, Wei Qiu, Samuel M Hyde, Gilbert J Cote, Elizabeth G Grubbs, Nancy D Perrier, Jeffrey E Lee
BACKGROUND: The aim of this study was to investigate the genotype-phenotype relationship of pancreatic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1 treated at our institution. METHODS: We conducted a retrospective chart review of all patients with multiple endocrine neoplasia type 1 treated at our center from January 1993 to December 2015. Presence of a pancreatic neuroendocrine tumor was determined based on imaging performed at any time from presentation to conclusion of follow-up...
November 6, 2017: Surgery
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