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Endocrine neoplasia

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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
#1
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
#2
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
#3
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/29225207/parathyroid-carcinoma-occurred-in-two-glands-in-multiple-endocrine-neoplasia-1-a-report-on-a-rare-case
#4
Yoko Omi, Kiyomi Horiuchi, Kento Haniu, Momoko Tokura, Erin Nagai, Osamu Isozaki, Yoji Nagashima, Takahiro Okamoto
Primary hyperparathyroidism is the most common hormonal manifestation associated with multiple endocrine neoplasia 1 (MEN1). It is generally caused by parathyroid hyperplasia, and parathyroid carcinoma is rare. Here, we report a case of MEN1 with parathyroid carcinoma in two parathyroid glands causing primary hyperparathyroidism. A 40-year-old man with primary hyperparathyroidism due to MEN1 underwent a total parathyroidectomy. His corrected calcium and intact PTH (i-PTH) serum levels were 10.8 mg/dL and 203 pg/mL, respectively...
December 8, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29223316/a-case-of-human-ocular-dirofilariasis-in-a-patient-with-multiple-endocrine-neoplasia-in-northwest-spain
#5
Inmaculada Ramírez de Ocáriz Landaberea, María F Brezmes Valdivieso, Sara C García Sanz, Fernando Simón Martín
No abstract text is available yet for this article.
December 6, 2017: Enfermedades Infecciosas y Microbiología Clínica
https://www.readbyqxmd.com/read/29201451/neuroendocrine-tumors-of-the-thymus
#6
REVIEW
Pier Luigi Filosso, Enrico Ruffini, Paolo Solidoro, Matteo Roffinella, Paolo Olivo Lausi, Paraskevas Lyberis, Alberto Oliaro, Francesco Guerrera
Primary neuroendocrine tumors of the thymus (NETTs) are rare and biologically very aggressive neoplasms, usually located in the anterior mediastinal space. They are more frequently observed in males, in their fourth/fifth decades of life. In 50% of cases, NETTs are associated with endocrinopaties [Cushing's syndrome, acromegaly or Multiple Endocrine Neoplasia-1 (MEN-1) syndrome]. NETTs very often present with invasion of the surrounding mediastinal anatomical structures. Surgery, even in advanced stages, is the mainstay of treatment: a compete resection through a median sternotomy or a combined access (sternotomy + thoracotomy) should be always attempted...
November 2017: Journal of Thoracic Disease
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
#7
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/29184811/dermatologic-manifestations-of-endocrine-disorders
#8
REVIEW
Michael Lause, Alisha Kamboj, Esteban Fernandez Faith
The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual's health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. In acromegaly, glycosaminoglycan deposition contributes to a thickening of skin and soft tissue, which manifests as coarsening and enlargement of facial and acral structures...
October 2017: Translational pediatrics
https://www.readbyqxmd.com/read/29182461/diagnosis-of-multiple-endocrine-neoplasia-type-2b-and-management-of-its-ocular-features
#9
Elke O Kreps, Isabelle Van Herzeele, Bert L Callewaert
BACKGROUND: To describe ocular and vascular findings in a patient with multiple endocrine neoplasia type 2B. MATERIALS AND METHODS: Case report of a 31-year-old male who was referred for ocular assessment following diagnosis of a carotid artery dissection and multiple vascular anomalies. RESULTS: Clinical examination revealed a marfanoid habitus, myelinated corneal nerve fibers, neuromas in the perilimbal area, conjunctival hyperemia with peripheral corneal neovascularization, and posterior blepharitis...
November 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29181825/a-primary-hepatic-gastrinoma-accompanied-by-hyperplasia-of-multi-nodular-brunner-s-glands
#10
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/29179257/is-the-fshr-2039a-g-variant-associated-with-susceptibility-to-testicular-germ-cell-cancer
#11
A K Bang, A S Busch, K Almstrup, J Gromoll, S Kliesch, E Rajpert-De Meyts, N E Skakkebaek, A Juul, F Tüttelmann, N Jørgensen
Testicular germ cell cancer (TGCC) is derived from germ cell neoplasia in situ (GCNIS), which arises due to niche disturbances affecting the Sertoli cells. It is believed that exogenous endocrine factors have a crucial role in governing neoplastic transformation but on a strong hereditary background. Follicle-stimulating hormone (FSH) is the major regulatory hormone of the Sertoli cells. FSH signalling-related single-nucleotide polymorphisms (SNPs) have previously been shown to affect FSH action in men at different levels...
November 27, 2017: Andrology
https://www.readbyqxmd.com/read/29175871/ret-receptor-structure-and-function-in-men2
#12
Ivan Plaza-Menacho
It has been 25 years since the discovery of oncogenic germline RET mutations as the cause of Multiple Endocrine Neoplasia type II (MEN2). Intensive work over the last two and a half decades on RET genetics, signaling and cell biology have provided the current bases for the genotype-phenotype and functional correlations within this cancer syndrome. On the contrary, the structural and molecular basis for RET tyrosine kinase domain activation and oncogenic deregulation has remained largely elusive. Recent studies with a strong crystallographic and biochemical focus however have started to elucidate key insights into such molecular and atomic details revealing unexpected and private mechanisms of actions and molecular determinants not previously envisioned...
November 24, 2017: Endocrine-related Cancer
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/29173254/scapular-rash-and-endocrine-neoplasia
#14
Muhammed Razmi T, Debajyoti Chatterjee, Davinder Parsad
No abstract text is available yet for this article.
November 2017: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/29162369/carney-complex-review-genetic-features
#15
María Belén Bosco Schamun, Ricardo Correa, Patricia Graffigna, Valeria de Miguel, Patricia Fainstein Day
Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex...
November 18, 2017: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29154082/are-preoperative-sestamibi-scans-useful-for-identifying-ectopic-parathyroid-glands-in-patients-with-expected-multigland-parathyroid-disease
#16
Farah Karipineni, Zeyad Sahli, Helina Somervell, Aarti Mathur, Jason D Prescott, Ralph P Tufano, Martha A Zeiger
BACKGROUND: The role of preoperative localization studies in patients with hyperparathyroidism and expected multigland disease remains poorly defined. Our study investigates the usefulness of obtaining preoperative sestamibi scans and ultrasonography of the neck in identifying ectopic glands in this group of patients. METHODS: Under Institutional Review Board approval, we performed a retrospective review of patients who underwent operation for secondary hyperparathyroidism, tertiary hyperparathyroidism, lithium-induced hyperparathyroidism, and multiple endocrine neoplasia syndrome at a tertiary institution between 2004 and 2015...
November 16, 2017: Surgery
https://www.readbyqxmd.com/read/29149451/transcriptional-alterations-in-hereditary-and-sporadic-nonfunctioning-pancreatic-neuroendocrine-tumors-according-to-genotype
#17
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
#18
https://www.readbyqxmd.com/read/29142004/advances-in-the-management-of-men2
#19
Samuel Wells
Medullary thyroid carcinoma (MTC), a tumor derived from the neural crest, occurs either sporadically or as the dominant component of the type 2 multiple endocrine neoplasia (MEN) syndromes, MEN2A and MEN2B. The discovery that mutations in the RET protooncogene cause hereditary MTC was of great importance, since it led to the development of novel methods of diagnosis and treatment. For example, the detection of a mutated RET allele in family members at risk for inheriting MEN2A or MEN2B signaled that they would develop MTC, and possibly other components of the syndromes...
November 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29138914/impact-of-tailored-parathyroidectomy-for-treatment-of-primary-hyperparathyroidism-in-patients-with-multiple-endocrine-neoplasia-type-1
#20
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
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