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Multiple Endocrine Neoplasia Type 1

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21. Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing (PubMed)

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing Background Loss-of-function germline MEN1 gene mutations account for 75-95% of patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated that mutations in non-coding regions of MEN1 might occur in some of the remaining patients; however, this hypothesis has not yet been fully investigated. Objective To sequence for the entire MEN1 including promoter, exons

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2018 European Journal of Endocrinology

22. Recent Topics Around Multiple Endocrine Neoplasia Type 1. (PubMed)

Recent Topics Around Multiple Endocrine Neoplasia Type 1. Multiple endocrine neoplasia type 1 (MEN1) is complex with regard to clinical expressions, management, and molecular pathways. Advances are being made broadly and in focused aspects. Selected topics are presented for their developments since publication of the most recent MEN1 consensus guidelines 6 years ago.Topics were selected for clinical impact or broad interest or both. For each topic, information was obtained from original reports (...) and reviews.The selected topics are as follows: tumor behavior and breast cancer in MEN1; foregut neuroectoderm tumor screening, biomarkers periodically to detect tumor emergence of foregut neuroectoderm tumors, 68Ga dotatate positron emission tomography/computed tomography for pancreatic and duodenal neuroectodermal tumor imaging, and glucagon-like peptide-1 receptor scintigraphy for insulinoma; therapy, the size of pancreatic neuroendocrine tumor (NET) as one criterion for surgery, minimally invasive

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2018 Journal of Clinical Endocrinology and Metabolism

23. Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1 (PubMed)

Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1 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

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2017 The Journal of international medical research

24. Multiple Neuroendocrine Tumors in Stomach and Duodenum in a Multiple Endocrine Neoplasia Type 1 Patient (PubMed)

Multiple Neuroendocrine Tumors in Stomach and Duodenum in a Multiple Endocrine Neoplasia Type 1 Patient A 67-year-old woman with a history of subtotal parathyroidectomy, distal pancreatectomy, and total splenectomy 23 years prior underwent surgical gastric resection for neuroendocrine tumors of the stomach and duodenum. Meticulous examination of the entire stomach and duodenum revealed multiple scattered, minute neuroendocrine tumors. To the best of our knowledge, this is the first case report (...) of a patient diagnosed with gastroduodenal neuroendocrine tumors associated with multiple endocrine neoplasia type 1 (MEN 1) in whom complete histologic mapping of the whole gastrectomy specimen was performed. The presence of MEN 1-associated neuroendocrine tumors in the stomach is very rare, but should be considered in patients diagnosed with MEN 1 who present with a new tumor in the stomach.

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2017 Journal of Pathology and Translational Medicine

25. Thymoma (World Health Organization type B3) with neuroendocrine differentiation in multiple endocrine neoplasia type 1 (PubMed)

Thymoma (World Health Organization type B3) with neuroendocrine differentiation in multiple endocrine neoplasia type 1 Thymic epithelial tumors occur in 1-5% of patients with multiple endocrine neoplasia type 1 (MEN 1). Majority of these thymic epithelial tumors are thymic carcinoids and patients with thymoma in MEN 1 is rare. Furthermore, thymoma with neuroendocrine differentiation was also rarely reported. Herein, we report a 68-year-old man having type B3 thymoma with neuroendocrine (...) differentiation in MEN 1 and to the best of our knowledge this is the first such case ever reported.

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2017 Journal of surgical case reports

26. Clinical Features of Multiple Endocrine Neoplasia Type 4 - Novel pathogenic variant and review of published cases. (PubMed)

presented primarily with primary hyperparathyroidism and functioning and non-functioning pituitary tumors.Hypercalcaemia due to primary hyperparathyroidism and pituitary tumors are common in MEN4. Gastro-intestinal neuroendocrine tumors appear to be less prevalent in MEN4 than in multiple endocrine neoplasia type 1.Copyright © 2019 Endocrine Society. (...) Clinical Features of Multiple Endocrine Neoplasia Type 4 - Novel pathogenic variant and review of published cases. The clinical phenotype of multiple endocrine neoplasia type 4 (MEN4) is undefined due to a limited number of published cases. Knowledge on disease manifestation in MEN4 is essential for developing prevention programs and treatment.To expand current knowledge of the MEN4 phenotype including assessment of penetrance.This is a case report and a brief review of previously published

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2019 Journal of Clinical Endocrinology and Metabolism

27. Concomitant thyroid cancer in patients with Multiple Endocrine Neoplasia (MEN)-1 undergoing surgery for primary hyperparathyroidism. (PubMed)

Concomitant thyroid cancer in patients with Multiple Endocrine Neoplasia (MEN)-1 undergoing surgery for primary hyperparathyroidism. Compared to those with sporadic primary hyperparathyroidism (SPHP), multiple endocrine neoplasia type 1 (MEN1) patients with primary hyperparathyroidism (MPHP) typically require more extensive dissection and have higher recurrence rates. Little is known about the risk of concomitant thyroid cancer in either setting. This study aimed to determine the rates (...) and characteristics of thyroid cancer for MPHP versus SPHP patients undergoing parathyroidectomy.Patients with MPHP (diagnosed by clinical and/or genetic criteria) or SPHP who had initial or reoperative parathyroid exploration from 1967 to 2014 were identified via a prospective database. The thyroid cancer-specific data for MPHP patients (n = 29) were compared to a selected 2:1 age- and sex-matched SPHP cohort (n = 58) who all had concurrent thyroidectomy for any reason. Clinically significant thyroid cancer

2019 Thyroid

28. Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old (PubMed)

Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old Despite its identification in 1997, the functions of the MEN1 gene-the main gene underlying multiple endocrine neoplasia type 1 syndrome-are not yet fully understood. In addition, unlike the RET-MEN2 causative gene-no hot-spot mutational areas or genotype-phenotype correlations have been identified. More than 1,300 MEN1 gene mutations have been reported and are mostly "private" (family specific). Even when

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2017 F1000Research

29. A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1 (PubMed)

A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1 28203045 2018 11 13 0918-5739 26 1 2017 Jan Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology Clin Pediatr Endocrinol A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1. 25-28 10.1297/cpe.26.25 Itoh Masatsune M Department of Pediatrics, Kanazawa Medical University, Ishikawa (...) , Japan. Saikawa Yutaka Y Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan. eng Journal Article 2017 01 31 Japan Clin Pediatr Endocrinol 9433330 0918-5739 adolescent missense mutation multiple endocrine neoplasia type 1 (MEN1) 2016 05 19 2016 09 16 2017 2 17 6 0 2017 2 17 6 0 2017 2 17 6 1 ppublish 28203045 10.1297/cpe.26.25 2016-0015 PMC5295248 Clin Endocrinol (Oxf). 2012 Apr;76(4):533-9 21950691 Endocr J. 2012;59(10):859-66 22785103 Mol Cell Endocrinol. 2014 Apr 5;386(1-2):2-15

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2017 Clinical Pediatric Endocrinology

30. Genetic confirmation that ependymoma can arise as part of multiple endocrine neoplasia type 1 (MEN1) syndrome (PubMed)

Genetic confirmation that ependymoma can arise as part of multiple endocrine neoplasia type 1 (MEN1) syndrome 28238068 2018 05 31 2018 11 13 1432-0533 133 4 2017 04 Acta neuropathologica Acta Neuropathol. Genetic confirmation that ependymoma can arise as part of multiple endocrine neoplasia type 1 (MEN1) syndrome. 661-663 10.1007/s00401-017-1689-7 Cuevas-Ocampo Areli K AK Division of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health (...) Cancer Genomics Laboratory, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu. eng DP5 OD021403 OD NIH HHS United States Case Reports Letter Research Support, N.I.H., Extramural 2017 02 25 Germany Acta Neuropathol 0412041 0001-6322 0 MEN1 protein, human 0 Proto-Oncogene Proteins IM Adult Ependymoma complications diagnostic imaging genetics Genetic Testing Humans Magnetic Resonance Imaging Male Multiple Endocrine Neoplasia Type 1 complications diagnostic imaging genetics

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2017 Acta neuropathologica

31. Radiological surveillance in multiple endocrine neoplasia type 1: a double-edged sword? (PubMed)

Radiological surveillance in multiple endocrine neoplasia type 1: a double-edged sword? 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. Although patients undergo radiological and biochemical surveillance, current recommendations for radiological monitoring are based

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2017 Endocrine connections

32. Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1 (PubMed)

Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline mutations of the MEN1 gene located in chromosome 11q13. In patients with MEN1, multicentric tumors develop in the involved organs; however, precise evaluation of genetic changes in these multicentric tumors has not been performed. In the present study, using whole-exome (...) sequencing, we analyzed germline and somatic genetic changes in blood cells, two pancreatic endocrine tumors and one duodenal tumor obtained from a patient with MEN1 gastrinoma. We found that this patient possessed a novel germline mutation of the MEN1 gene [NM_137099.2:c.1505dupA (p.Lys502Lysfs); the localization was Chr11:64572134 on Assembly GRCh37], in which an adenine insertion in codon 502 of the MEN1 gene resulted in a frame shift and a premature stop codon. In terms of heterozygosity, the mutated

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2017 Human Genome Variation

33. Challenging Differential Diagnosis of Hypergastremia and Hyperglucagonemia with Chronic Renal Failure: Report of a Case with Multiple Endocrine Neoplasia Type 1 (PubMed)

Challenging Differential Diagnosis of Hypergastremia and Hyperglucagonemia with Chronic Renal Failure: Report of a Case with Multiple Endocrine Neoplasia Type 1 A 53-year-old woman developed end-stage renal failure during a 15-year clinical course of primary hyperparathyroidism and was referred to our hospital for evaluation of suspected multiple endocrine neoplasia type 1 (MEN1). Genetic testing revealed a novel deletion mutation at codon 467 in exon 10 of the MEN1 gene. Systemic and selective

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2017 Internal Medicine

34. The LARO-MEN1 study: a longitudinal clinical experience with octreotide Long-Acting Release in patients with Multiple Endocrine Neoplasia type 1 Syndrome (PubMed)

The LARO-MEN1 study: a longitudinal clinical experience with octreotide Long-Acting Release in patients with Multiple Endocrine Neoplasia type 1 Syndrome Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumoral syndrome, featured by a combination of neoplasms of various endocrine and nonendocrine tissues. Approximately 33% of MEN1-related deaths are due to the malignant behaviour of well-differentiated neuroendocrine tumors (NETs), for which a preventive surgical treatment

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2017 Clinical Cases in Mineral and Bone Metabolism

35. 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 (PubMed)

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 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.

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2017 Case reports in endocrinology

36. Metastatic multiple endocrine neoplasia type 1: report of one case (PubMed)

Metastatic multiple endocrine neoplasia type 1: report of one case A 46-year-old Chinese woman was admitted to our hospital because of presence of space-occupying lesions in the liver for 2 months in April, 2015. She had a family history of multiple endocrine neoplasia type 1 (MEN1) and physical examination is unremarkable. Previously, she has performed surgery for primary pituitary tumor in 2002 and radiosurgery for its recurrence. Around December 2014, she suffered from abdominal discomfort (...) associated with regurgitation and gastroscopy revealed "gastroduodenal ulcers", along with elevated gastrin. Next, both magnetic resonance and computed tomography imaging showed multiple intrahepatic lesions, the PET-CT unveiled uptake pattern of 18F-FDG in duodenum and multiple intrahepatic lesions, resembling the appearance of metastatic gastrinoma. The octreotide scan gave identical results. The parathyroid SPECT scans showed abnormal concentrations of radioactivity in right parathyroid. She also had

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2016 Translational gastroenterology and hepatology

37. Limited Value of Ga-68-DOTATOC-PET-CT in Routine Screening of Patients with Multiple Endocrine Neoplasia Type 1. (PubMed)

Limited Value of Ga-68-DOTATOC-PET-CT in Routine Screening of Patients with Multiple Endocrine Neoplasia Type 1. Routine screening is recommended for patients with multiple endocrine neoplasia type 1 (MEN1) to enable early detection and treatment of associated neuroendocrine neoplasms (NEN). Gallium68-DOTATOC-Positron emission tomography combined with computed tomography (Ga-68-DOTATOC-PET-CT) is a very sensitive and specific imaging technique for the detection of sporadic neuroendocrine tumors

2017 World Journal of Surgery

38. Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis. (PubMed)

Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis. Thymic neuroendocrine tumour (TH-NET) accounts for almost 20% of multiple endocrine neoplasia type 1 (MEN1)-associated mortality. Identifying risk factors for the development of these rare tumours and prognostic factors for clinical outcomes will be helpful in clinical practice.We performed a retrospective analysis

2017 Clinical endocrinology

39. Study and Follow-up of Multiple Endocrine Neoplasia Type 1

Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Study and Follow-up of Multiple Endocrine Neoplasia Type 1 - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Study and Follow-up of Multiple (...) table for study information Study Type : Observational Estimated Enrollment : 2000 participants Observational Model: Cohort Time Perspective: Prospective Official Title: Study and Follow-up of Multiple Endocrine Neoplasia Type 1 Actual Study Start Date : July 2012 Estimated Primary Completion Date : July 2031 Estimated Study Completion Date : July 2031 Resource links provided by the National Library of Medicine related topics: resources: Groups and Cohorts Go to Intervention Details: Other: survey

2017 Clinical Trials

40. 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. (PubMed)

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. 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.A 43-year-old man with progressive dysphagia and diarrhea was referred to the teaching hospital. He had a history of recurrent duodenojejunal perforations despite the anti-secretory medication. Blood examinations revealed elevated serum gastrin, calcium, and parathyroid hormone. Upper gastrointestinal endoscopy demonstrated a severe esophageal stricture, multiple gastroduodenal ulcer scars, and a duodenal submucosal tumor. Enhanced computed

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2017 BMC Gastroenterology

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