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Pheochromocytoma

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https://www.readbyqxmd.com/read/28081522/adrenal-giant-cystic-pheochromocytoma-treated-by-posterior-retroperitoneoscopic-adrenalectomy
#1
Carlos E Costa Almeida, Marta Silva, Luis Carvalho, Carlos Manuel Costa Almeida
INTRODUCTION: Giant cystic pheochromocytoma (>10cm) is rare with only a few cases described in the literature. Preoperative diagnosis is very difficult because clinical, biochemical and radiologic finds are usually not consistent with a pheochromocytoma. Open surgery is traditionally the gold standard. CASE PRESENTATION: A 51 year-old male patient resorted to surgery department with an adrenal cystic incidentaloma. He was asymptomatic, mild hypertension easily controlled, with increased plasma fractionated metanephrines...
December 27, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28078330/pheochromocytoma-in-urologic-practice
#2
Nikhil Waingankar, Gennady Bratslavsky, Camilo Jimenez, Paul Russo, Alexander Kutikov
CONTEXT: Pheochromocytoma is regularly encountered in urological practice and requires a thoughtful and careful clinical approach. OBJECTIVE: To review clinical aspects of management of pheochromocytoma in urologic practice. EVIDENCE ACQUISITION: A systematic review of English-language literature was performed through year 2015 using the Medline database. Manuscripts were selected with consensus of the coauthors and evaluated using the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) criteria...
February 2016: European Urology Focus
https://www.readbyqxmd.com/read/28070496/utility-of-the-succinate-fumarate-ratio-for-assessing-sdh-dysfunction-in-different-tumor-types
#3
Edward Kim, Michael Jp Wright, Loretta Sioson, Talia Novos, Anthony J Gill, Diana E Benn, Christopher White, Trisha Dwight, Roderick J Clifton-Bligh
OBJECTIVE: Mutations of genes encoding the four subunits of succinate dehydrogenase (SDH) have been associated with pheochromocytoma and paraganglioma (PPGLs), gastrointestinal stromal tumors (GISTs) and renal cell carcinomas (RCCs). These tumors have not been characterized in a way that reflects severity of SDH dysfunction. Mass spectrometric analysis now allows measurement of metabolites extracted from formalin fixed paraffin embedded (FFPE) specimens. We assess whether SDH deficiency in various tumor types characterized by loss of SDHB protein expression correlates with SDH dysfunction as assessed by the ratio of succinate:fumarate in FFPE specimens...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28070114/development-of-database-and-genomic-medicine-for-von-hippel-lindau-disease-in-japan
#4
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...
January 6, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28070104/comparative-photodynamic-therapy-cytotoxicity-of-mannose-conjugated-chlorin-and-talaporfin-sodium-in-cultured-human-and-rat-cells
#5
Yo Shinoda, Tsutomu Takahashi, Jiro Akimoto, Megumi Ichikawa, Hiromi Yamazaki, Atsushi Narumi, Shigenobu Yano, Yasuyuki Fujiwara
Photodynamic therapy (PDT) is a Food and Drug Administration authorized method for cancer treatment, which uses photosensitizer and laser photo-irradiation to generate reactive oxygen species to induce cell death in tumors. Photosensitizers have been progressively developed, from first to third generation, with improvements in cell specificity, reduced side effects and toxicity, increased sensitivity for irradiation and reduced persistence of photosensitizer in healthy cells. These improvements have been achieved by basic comparative experiments between current and novel photosensitizers using cell lines; however, photosensitizers should be carefully evaluated because they may have cell type specificity...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/28063406/contemporary-imaging-of-incidentally-discovered-adrenal-masses
#6
REVIEW
Daniel J Wale, Ka Kit Wong, Benjamin L Viglianti, Domenico Rubello, Milton D Gross
Adrenal lesions are routinely encountered incidentally in clinical practice. Although most of these lesions are benign, malignancy needs to be excluded. Therefore, the initial clinical workup is to exclude aggressive characteristics suggesting malignancy and to identify characteristics predictive of the most common benign lesion, an adrenal adenoma. Predicting a benign adenoma using a variety of imaging modalities has been widely studied using unenhanced computed tomography (CT), contrast enhanced CT, and magnetic resonance (MR) imaging...
January 4, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28058556/surgical-treatment-of-malignant-pheochromocytoma-and-paraganglioma-retrospective-case-series
#7
Veljko Strajina, Benzon M Dy, David R Farley, Melanie L Richards, Travis J McKenzie, Keith C Bible, Florencia G Que, David M Nagorney, William F Young, Geoffrey B Thompson
INTRODUCTION: Pheochromocytoma and paraganglioma (PPGL) are rare neoplasms; about 10% are malignant. Literature regarding possible benefit from resection is extremely limited. METHODS: A 20 year review of all patients undergoing surgery for malignant PPGL at the Mayo Clinic Rochester Campus between 1994 and June 2014 was performed. RESULTS: We identified 34 patients undergoing surgery for malignant PPGL. Median follow up was 6 and 5 years survival was 90% (median 11 years)...
January 5, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28058099/adenomatoid-tumor-of-the-adrenal-gland-in-young-woman-from-clinical-and-radiological-to-pathological-study
#8
Brankica Krstevska, Sasha Jovanovska Mishevska, Rubens Jovanovic
Adenomatoid tumors are neoplasms of mesothelial origin, usually occurring in the male and female genital tracts. Extragenital localization sites such as adrenal glands are rare but have been reported. When found in the adrenals, they represent great clinical, radiological and pathological diagnostic challenge, with wide range of differential diagnoses to be considered. We present a case of a 30 years old female, with incidental ultrasound finding of unilateral tumor in the right adrenal gland. Multi slices CT scan was of value in localizing this tumor, but not in the precise diagnosis...
November 17, 2016: Rare Tumors
https://www.readbyqxmd.com/read/28050427/cystic-pheochromocytoma-presenting-as-adrenal-cyst
#9
Mohammed Shafi Abdulsalam, Vijaya Ganapathy, Priyanka Satish, Raghunath Keddy Janakiraman, Shivshankar Singh
Pheochromocytomas are usually solid tumours. But it can present as cystic lesions in the adrenal gland. Cystic lesions in adrenal gland with hypertension needs attention to rule out pheochromocytoma. If ignored, it may lead to hypertensive emergency, multisystem crisis and death. Early diagnosis with biochemistry, Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) of abdomen, proper functional imaging like Meta Iodo Benzyl Guanidine (MIBG) scan is essential. Proper preoperative preparation is important to prevent hypertensive crisis during and after surgery...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28043156/absence-of-braf-mutation-in-pheochromocytoma-and-paraganglioma
#10
T Vosecka, A Vicha, T Zelinka, P Jencova, K Pacak, J Duskova, J Benes, A Guha, L Stanek, M Kohoutova, Z Musil
Pheochromocytomas and Paragangliomas (PHEO/PARA) are rare endocrine tumors originating from the adrenal medulla. More than 20 genes are involved in the tumorigenesis of these tumors, but a substantial part of the causative genetic events remains unexplained. A recent study has reported the presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. Other studies have not find this mutation. This study investigates the occurrence of the BRAF V600E mutation in these tumors...
January 3, 2017: Neoplasma
https://www.readbyqxmd.com/read/28033222/relevant-discordance-between-68ga-dotatate-and-68ga-dotanoc-in-sdhb-related-metastatic-paraganglioma-is-affinity-to-somatostatin-receptor-2-the-key
#11
Ingo Janssen, Katherine I Wolf, Chan H Chui, Corina M Millo, Karel Pacak
Pheochromocytomas/paragangliomas are somatostatin receptor 2-overexpressing tumors. Ga-DOTA-peptide imaging has recently shown excellent results in the detection of metastatic lesions in these tumors. However, currently used Ga-DOTA peptides show different somatostatin receptor affinities. Here, we report the remarkable differences in a patient who was imaged with Ga-DOTANOC and Ga-DOTATATE PET/CT within a 7-month period. The patient presented with a nearly negative Ga-DOTANOC PET/CT scan, whereas on Ga-DOTATATE PET/CT, multiple highly positive lesions were identified...
December 28, 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28025185/pheochromocytoma-triggers-takotsubo-syndrome-complicated-by-cerebral-and-peripheral-embolic-events
#12
Kai Helge Schmidt, Tina Herholz, Jens Rodeck, Nico Abegunewardene, Karl-Friedrich Kreitner, Thomas Münzel
No abstract text is available yet for this article.
December 23, 2016: European Heart Journal
https://www.readbyqxmd.com/read/28011503/surgical-resection-of-giant-pheochromocytomas-arising-behind-the-retrohepatic-inferior-vena-cava
#13
Yuji Soejima, Tomoharu Yoshizumi, Toru Ikegami, Norifumi Harimoto, Shinji Ito, Noboru Harada, Takashi Motomura, Akihisa Nagatsu, Tetsuo Ikeda, Yoshihiko Maehara
BACKGROUND: Surgical resection of retrocaval giant pheochromocytomas (PCs) and of extra-adrenal paragangliomas (EAPs) is a technically challenging procedure but data on these procedures are scarce. The purpose of this study was to present and evaluate our surgical results for such tumors. PATIENTS AND METHODS: We retrospectively analyzed four consecutive patients who had surgery for giant retro-caval PCs and EAPs in terms of surgical technique, resectability of the tumor, requirement for bypass, and postoperative complications...
January 2017: Anticancer Research
https://www.readbyqxmd.com/read/28006088/case-of-parotid-mucoepidermoid-carcinoma-expanding-the-spectrum-of-von-hippel-lindau-related-neoplasms
#14
Michael H Berger, Darcy A Kerr, Artur E Rangel Filho, Zoukaa B Sargi
BACKGROUND: von Hippel-Lindau (VHL)-related tumors occurring outside the spectrum of VHL-defining tumors are rare, and mucoepidermoid carcinoma (MEC) in the setting of VHL disease has not been described. METHODS AND RESULTS: We describe a patient with confirmed VHL mutation who presented with a parotid mass and a history of 2 central nervous system (CNS) hemangioblastomas and 1 pheochromocytoma. Fine-needle aspiration (FNA) of the mass suggested a benign Warthin tumor...
December 22, 2016: Head & Neck
https://www.readbyqxmd.com/read/28001459/long-term-effect-of-adrenalectomy-on-cardiovascular-remodeling-in-patients-with-pheochromocytoma
#15
Bohumil Majtan, Tomáš Zelinka, Ján Rosa, Ondřej Petrák, Zuzana Krátká, Branislav Štrauch, Vladimír Tuka, Alice Vránková, David Michalský, Květoslav Novák, Dan Wichterle, Jiří Widimský, Robert Holaj
CONTEXT: Catecholamines may contribute to the accumulation of collagen fibers and extracellular matrix in the arterial and myocardial wall due to various mechanisms. Reversibility of this process has not been studied on both structures simultaneously. OBJECTIVE: This study aimed to clarify the long-term effect of catecholamines' excess normalization on carotid and myocardial wall changes in patients with pheochromocytoma or functional paraganglioma (PHEO) after tumor removal...
December 21, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27999715/secretory-paraspinal-paraganglioma-of-thoracolumar-spine-case-report-and-review-of-literature
#16
Saad Akhtar, Sidra Sattar, Ehsan Bari, Naila Kayani, Sarosh Moeen
BACKGROUND: Pheochromocytomas are catecholamine secreting tumors of the adrenal medulla chromaffin cells, however, when present extra-adrenally they are called paragangliomas. Paragangliomas rarely produce catecholamine in excess, which is evident by clinical symptoms, urine, and blood biochemistry. Total resection of these tumors can lead to complete clinical and biochemical resolution. This case report presents the clinical features, radiological findings, and neurological outcome in a middle-aged female with a secretory paraganglioma...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27994341/anesthetic-management-of-clinically-silent-familial-pheochromocytoma-with-men-2a-a-report-of-four-cases
#17
Shipra Aggarwal, Vandana Talwar, Pooja Virmani, Suniti Kale
Familial pheochromocytomas are commonly associated with multiple endocrine neoplasia type 2 (MEN 2) syndrome. Majority of the patients present with normal clinical and biochemical parameters in the preoperative period, the incidence of hypertension being only 50 %. Even though patients may be clinically asymptomatic, surveillance and proper preoperative evaluation is important, as surgery for associated tumors may precipitate a hypertensive crisis and result in severe complications. A family of 19 members, of which 12 were positive for MEN 2A syndrome, presented to our hospital...
October 2016: Indian Journal of Surgery
https://www.readbyqxmd.com/read/27992508/disentangling-of-malignancy-from-benign-pheochromocytomas-paragangliomas
#18
Kyong Young Kim, Jung Hee Kim, A Ram Hong, Moon-Woo Seong, Kyu Eun Lee, Su-Jin Kim, Sang Wan Kim, Chan Soo Shin, Seong Yeon Kim
OBJECTIVE: Many malignant tumors initially appear benign but subsequently exhibit extensive metastases. Early identification of malignant pheochromocytomas and paragangliomas (PPGLs) before metastasis is important for improved prognosis. However, there are no robust prognostic indices of recurrence and malignancy. The aim of this study was to identify the clinical and histopathological factors that predict malignant PPGLs. DESIGN: Retrospective follow-up study. METHODS: In this study, we included 223 patients with pathologically confirmed PPGLs who were treated between 2000 and 2015 at the Seoul National University Hospital in South Korea...
2016: PloS One
https://www.readbyqxmd.com/read/27990160/the-roles-of-pi3k-akt-mtor-and-mapk-erk-signaling-pathways-in-human-pheochromocytomas
#19
Juan Du, Anli Tong, Fen Wang, Yunying Cui, Chunyan Li, Yushi Zhang, Zhaoli Yan
Objectives. The roles of PI3K/AKT/mTOR and MAPK/ERK pathways involved in the pathogenesis of pheochromocytoma and paraganglioma (PPGL) were demonstrated mostly by in vitro studies with rat or mouse cells and were mainly studied at transcriptional level. This study aimed to investigate the effect of these pathways on the proliferation of human PPGL cells and the activation of these pathways in PPGLs. Methods. Human PPGL cells were treated with sunitinib and inhibitors of PI3K (LY294002), MEK1/2 (U0126), and mTORC1/2 (AZD8055)...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/27989324/mutations-in-mdh2-encoding-a-krebs-cycle-enzyme-cause-early-onset-severe-encephalopathy
#20
Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C Genin, Konstantina Fragaki, Catharina L M Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L I van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne De Saint-Martin, Marie-Thérèse Abi Warde, Monique G M de Sain-van der Velde, Judith J M Jans, Jeanne Amiel, Ziga Avsec, Christian Mertes, Tobias B Haack, Tim Strom, Thomas Meitinger, Penelope E Bonnen, Robert W Taylor, Julien Gagneur, Peter M van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A Fuchs, Véronique Paquis-Flucklinger
MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated subjects presenting with early-onset generalized hypotonia, psychomotor delay, refractory epilepsy, and elevated lactate in the blood and cerebrospinal fluid. Functional studies in fibroblasts from affected subjects showed both an apparently complete loss of MDH2 levels and MDH2 enzymatic activity close to null...
January 5, 2017: American Journal of Human Genetics
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