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https://www.readbyqxmd.com/read/29623209/concurrent-primary-hyperparathyroidism-and-pheochromocytoma-in-a-chinese-lady-with-neurofibromatosis-type-1
#1
Cheuk-Lik Wong, Chun-Kit Fok, Vicki Ho-Kee Tam
We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29579362/barriers-to-the-recognition-of-medullary-thyroid-carcinoma-on-fna-implications-relevant-to-the-new-american-thyroid-association-guidelines
#2
Kathryn S Dyhdalo, Deborah J Chute
BACKGROUND: The 2016 American Thyroid Association guidelines recommend multiple endocrine neoplasia testing and evaluation for pheochromocytoma before thyroidectomy after a thyroid fine-needle aspiration biopsy (FNA) is positive for medullary thyroid carcinoma (MTC). In the current study, the authors examined the reasons why FNA was unable to definitively diagnose MTC preoperatively, with attention to morphologic patterns that can be misleading. METHODS: Cases of MTC diagnosed on thyroid surgical resection for which there was a prior FNA and slides available for review were included (28 cases)...
March 26, 2018: Cancer Cytopathology
https://www.readbyqxmd.com/read/29566550/-68-ga-somatostatin-receptor-analogs-and-18-f-fdg-pet-ct-in-the-localization-of-metastatic-pheochromocytomas-and-paragangliomas-with-germline-mutations-a-meta-analysis
#3
Ying Kan, Shuxin Zhang, Wei Wang, Jie Liu, Jigang Yang, Zhenchang Wang
Background Metastatic pheochromocytoma and paraganglioma (PCs/PGLs) show high germline mutation, and 18 F-FDG and 68 Ga-DOTA peptide positron emission tomography/computed tomography (PET/CT) imaging are recommended for the diagnosis of metastatic of PCs. However, there has been lack of direct comparison of the two modalities in the diagnosis of metastatic of PCs up to now. Purpose To evaluate and compare the value of localization of 68 Ga-somatostatin receptor analogs and 18 F-FDG in the diagnosis of metastatic PCs/PGLs...
January 1, 2018: Acta Radiologica
https://www.readbyqxmd.com/read/29427212/recontacting-patients-with-updated-genetic-testing-recommendations-for-medullary-thyroid-carcinoma-and-pheochromocytoma-or-paraganglioma
#4
Minerva A Romero Arenas, Thereasa A Rich, Samuel M Hyde, Naifa L Busaidy, Gilbert J Cote, Mimi I Hu, Robert F Gagel, Paul W Gidley, Camilo Jimenez, Michael E Kupferman, Susan K Peterson, Steven I Sherman, Anita Ying, Roland L Bassett, Steven G Waguespack, Nancy D Perrier, Elizabeth G Grubbs
BACKGROUND: No guidelines exist regarding physicians' duty to inform former patients about novel genetic tests that may be medically beneficial. Research on the feasibility and efficacy of disseminating information and patient opinions on this topic is limited. METHODS: Adult patients treated at our institution from 1950 to 2010 for medullary thyroid cancer, pheochromocytoma, or paraganglioma were included if their history suggested being at-risk for a hereditary syndrome but genetic risk assessment would be incomplete by current standards...
May 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29260252/-functional-diagnostics-in-endocrinology
#5
REVIEW
C J Auernhammer, M Reincke
When investigating many endocrinological diseases, basal laboratory parameters are not sufficient to distinguish between physiological and pathological hormone secretion. Functional diagnostics plays a decisive role in this context. Stimulation and suppression tests are used depending on whether under- or over-function needs to be diagnosed. This review article discusses selected functional tests, each of which plays an important role in current guidelines. Indications and test principles, including their performance, reliability, and limitations, are discussed...
January 2018: Der Internist
https://www.readbyqxmd.com/read/29201372/the-importance-of-pheochromocytoma-case-detection-in-patients-with-neurofibromatosis-type-1-a-case-report-and-review-of-literature
#6
Joshua M Tate, Janelle B Gyorffy, Jeffrey A Colburn
Neurofibromatosis type 1 is a complex, multi-system genetic disorder that is associated with an increased prevalence of pheochromocytoma and paraganglioma compared to the general population, 1.0%-5.7% versus 0.2%-0.6%, respectively. A delay in pheochromocytoma and paraganglioma diagnosis or undiagnosed pheochromocytoma and paraganglioma, as seen in normotensive and asymptomatic patients, may portend a significant morbidity and mortality risk due to excess catecholamine secretion. Currently, there are no generally accepted guidelines of screening for pheochromocytoma and paragangliomas in asymptomatic individuals of this population with approaches and practices varying considerably between physicians...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/28982960/management-of-endocrine-disease-flushing-current-concepts
#7
REVIEW
Isabel Huguet, Ashley Grossman
OBJECTIVE: Flushing can be defined as a sensation of warmth accompanied by erythema that most commonly is seen on the face and which occurs in episodic attacks. Such a problem can be clinically problematic, since many conditions and drugs can be related to flushing, and while often there appears to be no underlying organic disease, it is important to exclude disorders since they may be life-threatening conditions. DESIGN AND METHODS: We performed a search in MEDLINE using the terms 'flushing' in combination with 'carcinoid syndrome', 'pheochromocytoma', 'mastocytosis', 'menopausal hot flush' and 'treatment'...
November 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28890865/functional-imaging-of-paragangliomas-with-an-emphasis-on-von-hippel-lindau-associated-disease-a-mini-review
#8
REVIEW
Ioannis Ilias, Georgios Meristoudis
Few reports have presented data and results on functional (i.e., nuclear medicine) imaging of paragangliomas and pheochromocytomas (PGLs/PHEOs) for von Hippel-Lindau (VHL) patients. Nuclear medicine localization modalities for chromaffin tumors can be specific or nonspecific. Specific methods make use of the expression of the human norepinephrine transporter (hNET) and vesicular monoamine transporters (VMATs) by these tumors. These permit the use of radiolabeled ligands that enter the synthesis and storage pathway of catecholamines...
2017: Journal of Kidney Cancer and VHL
https://www.readbyqxmd.com/read/28794862/case-report-an-incidentaloma-that-catches-your-eye-adrenal-myelolipoma
#9
Rosanna D'Addosio, Joselyn Rojas, Valmore Bermúdez, Flor Ledesma, Kyle Hoedebecke
Background: Adrenal incidentaloma refers to the incidental finding of a tumor in the adrenal gland, where nonfunctional forms are the most common variant. Myelolipoma is a rare (0.08-0.4%) occurrence characterized by adipose and hematopoietic tissue. The aim of this case report is to describe the diagnosis and appropriate management of a myelolipoma in an asymptomatic patient, which was originally considered an incidental hepatic hemangioma prior to being identified as a giant adrenal adenoma. Case description: The patient was a 54 year old obese female with a recent diagnosis of diabetes type II and dyslipidemia with recent ultrasound imaging suggestive of a hepatic hemangioma...
2017: F1000Research
https://www.readbyqxmd.com/read/28752085/review-of-pediatric-pheochromocytoma-and-paraganglioma
#10
REVIEW
Reshma Bholah, Timothy Edward Bunchman
Pheochromocytoma (PCC) and paraganglioma (PGL) are rare chromaffin cell tumors which secrete catecholamines and form part of the family of neuroendocrine tumors. Although a rare cause of secondary hypertension in pediatrics, the presentation of hypertension in these patients is characteristic, and treatment is definitive. The gold standard for diagnosis is via measurement of plasma free metanephrines, with imaging studies performed for localization, identification of metastatic lesions and for surgical resection...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28721348/systematic-genetic-screening-in-a-prospective-group-of-danish-patients-with-pheochromocytoma
#11
Morten Steen Svarer Hansen, Niels Jacobsen, Anja Lisbeth Frederiksen, Lars Lund, Marianne Skovsager Andersen, Dorte Glintborg
Recent guidelines recommend consideration of genetic screening in all newly diagnosed patients with pheochromocytoma. Patients diagnosed with pheochromocytoma in the Region of Southern Denmark during 2006-2013 without previously recognized monogenetic etiology were offered genetic screening for mutations in the VHL, RET, SDHB, SDHC, and SDHD genes. A total of 41 patients were included, and genetic data were available in 35. In four of the 35 patients, a pathogenic variant was identified prior to the diagnosis of pheochromocytoma (von Hippel-Lindau disease, n=2; neurofibromatosis type 1, n=2)...
2017: Research and Reports in Urology
https://www.readbyqxmd.com/read/28650583/von-hippel-lindau-development-in-children-and-adolescents
#12
Karoline Launbjerg, Iben Bache, Michael Galanakis, Marie Luise Bisgaard, Marie Louise M Binderup
The autosomal dominant von Hippel-Lindau disease (vHL) is associated with a lifelong risk of tumor development, especially retinal and CNS hemangioblastomas, pheochromocytoma, and renal cell carcinoma. Knowledge of paediatric vHL development is limited, and current surveillance guidelines are based on expert opinions. We aimed to describe the course of vHL development in children and adolescents, focusing on age at first manifestation, manifestation frequencies, and types. The prevalence of vHL diagnosis as well as manifestations in childhood were evaluated based on 99 patients, who had started surveillance before 18 years: 37 Danish patients from the national vHL research database and 62 international patients reported in 15 articles...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28649091/the-penetrance-of-men2-pheochromocytoma-is-not-only-determined-by-ret-mutations
#13
LETTER
Frederic Castinetti, Ana Luiza Maia, Mariola Peczkowska, Marta Barontini, Kornelia Hasse-Lazar, Thera P Links, Rodrigo A Toledo, Sarka Dvorakova, Caterina Mian, Maria Joao Bugalho, Stefania Zovato, Maria Alevizaki, Andrei Kvachenyuk, Birke Bausch, Paola Loli, Simona R Bergmann, Attila Patocs, Marija Pfeifer, Josefina Biarnes Costa, Ernst von Dobschuetz, Claudio Letizia, Gerlof Valk, Marcin Barczynski, Malgorzata Czetwertynska, John T M Plukker, Paola Sartorato, Tomas Zelinka, Petr Vlcek, Svetlana Yaremchuk, Georges Weryha, Letizia Canu, Nelson Wohllk, Frederic Sebag, Martin K Walz, Charis Eng, Hartmut P H Neumann
No abstract text is available yet for this article.
August 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28643981/-adrenal-surgery-multidisciplinarity-is-mandatory
#14
Marie-Laure Matthey Gié, Marie Nicod Lalonde, Elena Gonzalez Rodriguez, Nicolas Demartines, Maurice Matter
Adrenal tumours are rare and their management is challenging. Every patient presenting with adrenal mass or symptoms of hormones hypersecretion should be investigated. The two important questions to be answered are : 1. Is the tumour secreting ? Is the tumour malignant or not ? A complete endocrine work-up and a nativ CT-scan may usually answer these two questions but have to be interpreted by specialists in a multidisciplinary team setting. The decisions about managements of adrenal pathologies do follow international guidelines which are regularly updated...
June 14, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28384794/clinical-characterization-of-the-pheochromocytoma-and-paraganglioma-susceptibility-genes-sdha-tmem127-max-and-sdhaf2-for-gene-informed-prevention
#15
Birke Bausch, Francesca Schiavi, Ying Ni, Jenny Welander, Attila Patocs, Joanne Ngeow, Ulrich Wellner, Angelica Malinoc, Elisa Taschin, Giovanni Barbon, Virginia Lanza, Peter Söderkvist, Adam Stenman, Catharina Larsson, Fredrika Svahn, Jin-Lian Chen, Jessica Marquard, Merav Fraenkel, Martin A Walter, Mariola Peczkowska, Aleksander Prejbisz, Barbara Jarzab, Kornelia Hasse-Lazar, Stephan Petersenn, Lars C Moeller, Almuth Meyer, Nicole Reisch, Arnold Trupka, Christoph Brase, Matthias Galiano, Simon F Preuss, Pingling Kwok, Nikoletta Lendvai, Gani Berisha, Özer Makay, Carsten C Boedeker, Georges Weryha, Karoly Racz, Andrzej Januszewicz, Martin K Walz, Oliver Gimm, Giuseppe Opocher, Charis Eng, Hartmut P H Neumann
Importance: Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking. Objective: To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes...
September 1, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28323957/risk-profile-of-the-ret-a883f-germline-mutation-an-international-collaborative-study
#16
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 (RET) 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 the 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 among the ATA risk levels...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28276947/assessment-of-depression-anxiety-quality-of-life-and-coping-in-long-standing-multiple-endocrine-neoplasia-type-2-patients
#17
Karine C Rodrigues, Rodrigo A Toledo, Flavia L Coutinho, Adriana B Nunes, Rui M B Maciel, Ana O Hoff, Marcos C Tavares, Sergio P A Toledo, Delmar M Lourenço
BACKGROUND: Data on psychological harm in multiple endocrine neoplasia type 2 (MEN2) are scarce. OBJECTIVES: The aim of this study was to assess anxiety, depression, quality of life, and coping in long-standing MEN2 patients. PATIENTS AND METHODS: Patients were 43 adults (age ≥18 years) with clinical and genetic diagnosis of MEN2 and long-term follow-up (10.6 ± 8.2 years; range 1-33 years). This was a cross-sectional study with qualitative and quantitative psychological assessment using semi-directed interviews and HADS, EORTC QLQ C30, and MINI-MAC scales...
May 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28255411/structured-assessment-and-followup-for-patients-with-hereditary-kidney-tumour-syndromes
#18
Jean-Baptiste Lattouf, Stephen E Pautler, M Neil Reaume, Raymond H Kim, Melanie Care, Jane Green, Alan So, Philippe D Violette, Issam Saliba, Philippe Major, Shane Silver, Richard Leicht, Joan Basiuk, Simon Tanguay, Michael A S Jewett, Darrel Drachenberg
INTRODUCTION: Optimal clinical assessment and subsequent followup of patients with or suspected of having a hereditary renal cell carcinoma syndrome (hRCC) is not standardized and practice varies widely. We propose protocols to optimize these processes in patients with hRCC to encourage a more uniform approach to management that can then be evaluated. METHODS: A review of the literature, including existing guidelines, was carried out for the years 1985-2015. Expert consensus was used to define recommendations for initial assessment and followup...
July 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28181818/recommendations-for-the-management-of-adrenal-incidentalomas-what-is-pertinent-for-radiologists
#19
Anju Sahdev
Adrenal incidentalomas are unsuspected, asymptomatic adrenal masses detected on imaging. Most are non-functioning benign adrenocortical adenomas but can represent other benign lesions or lesions requiring therapeutic intervention including adrenocortical carcinoma, pheochromocytoma, hormone-producing adenoma or metastasis. This review summarizes and highlights radiological recommendations within the recently issued guidelines for the management of adrenal incidentalomas from the European Society of Endocrinology Clinical Practice in collaboration with the European Network for Study of Adrenal Tumours...
April 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28070114/development-of-database-and-genomic-medicine-for-von-hippel-lindau-disease-in-japan
#20
REVIEW
Shunsaku Takayanagi, Akitake Mukasa, Hirofumi Nakatomi, Hiroshi Kanno, Jun-Ichi Kuratsu, Ryo Nishikawa, Kazuhiko Mishima, Atushi Natsume, Toshihiko Wakabayashi, Kiyohiro Houkin, Shunsuke Terasaka, Masahiro Yao, Nobuo Shinohara, Taro Shuin, Nobuhito Saito
von Hippel-Lindau (VHL) disease is a hereditary tumor disease in which tumors develop in multiple organs, not only as hemangioblastomas (HBs) in the central nervous system, but also as kidney tumors, pheochromocytomas, and so on. Much about the epidemiology of VHL disease remained unknown until fairly recently in Japan, leading to calls for the establishment of a VHL disease epidemiological database in Japanese. To elucidate its epidemiology in Japan, the Japanese Ministry of Health, Labour and Welfare created the VHL Disease Study Group, which was put in charge of carrying out a nationwide epidemiological survey...
February 15, 2017: Neurologia Medico-chirurgica
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