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G Donatini, J L Kraimps, C Caillard, E Mirallie, F Pierre, Loïc De Calan, A Hamy, O Larin, O Tovkay, S Cherenko
The original article was updated to correct the listing of A. Hamy's name; it is correct as displayed above.
March 20, 2018: Surgical Endoscopy
William Breen, Irina Bancos, William F Young, Keith C Bible, Nadia N Laack, Robert L Foote, Christopher L Hallemeier
Purpose/Objectives: To evaluate the role of external beam radiation therapy (EBRT) for treatment of malignant paraganglioma (PGL) and pheochromocytoma (PCC). Methods and materials: A retrospective review was performed of all patients with malignant PGL/PCC treated with EBRT at our institution between 1973 and 2015. Local control (LC) per treated lesion and overall survival were estimated using the Kaplan-Meier method. Toxicities were scored using the Common Toxicity Criteria for Adverse Events (AE), version 4...
January 2018: Advances in Radiation Oncology
Bradford Bennett, Drew Johnson, Andrew Panakos, Aleksandr Rozenberg
A 51-year-old woman with history of migraine headaches and intermittent nausea, vomiting, palpitations, and diaphoresis presented to the emergency department with hypertensive emergency 1 month after starting a beta blocker for migraine prophylaxis. Contrast-enhanced computed tomography of the chest incidentally revealed a large abdominal mass in the area of the left adrenal gland. Iodine-123 metaiodobenzylguanidine scan imaging showed localized uptake into the left adrenal gland. Along with imaging results, laboratory testing confirmed the diagnosis of pheochromocytoma...
February 2018: Radiology Case Reports
Jules Gregory, Souhail Bennani, Gaël Freche, Audrey Mansuet-Lupo, Marie-Pierre Revel, Guillaume Chassagnon
No abstract text is available yet for this article.
March 15, 2018: Annals of Thoracic Surgery
Yilun Deng, Yuejuan Qin, Subramanya Srikantan, Anqi Luo, Zi-Ming Cheng, Shahida K Flores, Kris S Vogel, Exing Wang, Patricia L M Dahia
The TMEM127 tumor suppressor gene encodes a transmembrane protein of unknown function mutated in pheochromocytomas and, rarely, in renal cancers. Tumors with inactivating TMEM127 mutations have increased mTORC1 signaling by undefined mechanisms. Here we report that TMEM127 interacts with the lysosome-anchored complex comprised of Rag GTPases, the LAMTOR pentamer (or 'ragulator') and vATPase, which controls amino acid-mediated mTORC1 activation. We found that in nutrient-rich conditions TMEM127 expression reduces mTORC1 recruitment to Rags...
March 14, 2018: Human Molecular Genetics
Filip Čtvrtlík, Pavel Koranda, Jan Schovánek, Jozef Škarda, Igor Hartmann, Zbyněk Tüdös
The topic of pheochromocytomas is becoming increasingly popular as a result of major advances in different medical fields, including laboratory diagnosis, genetics, therapy, and particularly in novel advances in imaging techniques. The present review article discusses current clinical, biochemical, genetic and histopathological aspects of the diagnosis of pheochromocytomas and planning of pre-surgical preparation and subsequent surgical treatment options. The main part of the paper is focused on the role of morphological imaging methods (primarily computed tomography and magnetic resonance imaging) and functional imaging (scintigraphy and positron emission tomography) in the diagnosis and staging of pheochromocytomas...
April 2018: Experimental and Therapeutic Medicine
Yuzhi Zuo, Xiaoxin Li, Xingcheng Wu, Jing Zhou, Jianyi Wang, Jing Wang, Zhihong Wu, Hanzhong Li, Xuebin Zhang
Pheochromocytoma and paraganglioma (PPGLs) are rare autosomal dominant disorders derived from the neural crest chromaffin tissuesof the autonomic nervous system. The succinate dehydrogenase complex subunit D (SDHD) gene has been implicated as one of the pathogenic genes. Although more than 100 SDHD mutations have been reported, the phenotype-genotype association remains unclear. Here we reported a case of a patient who presented with multifocal PPGLs and with a rare SDHD mutation. It is the first report linking this variant to multifocal PPGLs...
March 12, 2018: Urology
Alexandra Colvin, Amanda F Saltzman, Jonathan Walker, Jennifer Bruny, Nicholas G Cost
Pheochromocytoma is a rare chromaffin cell tumor that is may be associated with a genetic predisposition, such as Von Hippel-Lindau (VHL) disease. VHL is an autosomal dominant disorder that is characterized by a predisposition to multiple tumors including retinal and central nervous system hemangioblastomas, renal cell carcinoma and pheochromocytomas. The classic presentation of pheochromocytoma is episodic hypertension, headaches, palpitations, and diaphoresis. In the pediatric population, 40% of pheochromocytomas have a hereditary basis...
March 12, 2018: Urology
(no author information available yet)
No abstract text is available yet for this article.
March 9, 2018: Journal of Clinical Endocrinology and Metabolism
Adrian F Daly, Emily Castermans, Lindsey Oudijk, Mirtha A Guitelman, Pablo Beckers, Iulia Potorac, Sebastian J C M M Neggers, Nathalie Sacre, Aj Van der Lely, Vincent Bours, Wouter W de Herder, Albert Beckers
Copy number variations (CNV), an important genetic mechanism in inherited tumor genetics, can affect large genetic regions or can be limited to smaller regions within genes, such deletions of single exons. Such exon deletions can be challenging to identify and sequencing can be normal in these cases. Multiplex ligation dependent probe amplification (MLPA) can identify CNV of individual exons. Mutations in the MAX gene are associated with a risk of sporadic and hereditary pheochromocytoma. As mutations in other pheochromocytoma related genes can also cause pituitary tumors (3P-Association), we studied whether MAX exon deletions were involved in the etiology of patients with an unexplained association of multiple endocrine neoplasia including pituitary adenoma and pheochromocytoma...
March 13, 2018: Endocrine-related Cancer
James B Leonard, Kashif M Munir, Hong K Kim
Metoclopramide (MCP) is a commonly used anti-emetic in the emergency department (ED). Its use is generally well tolerated; although infrequent adverse reactions such as extrapyramidal reactions or tardive dyskinesia are reported. However, many ED providers are not familiar with the potentially life-threatening hypertensive emergency that can be precipitated by MCP administration in patients with pheochromocytoma. A previously healthy 36-year-old woman presented to the ED with headache and nausea. She developed acute hypertensive emergency (acute agitation, worsening headache, chest pain and wide complex tachycardia) when her blood pressure (BP) increased to 223/102mmHg (initial BP, 134/86mmHg) after receiving intravenous MCP...
March 5, 2018: American Journal of Emergency Medicine
Ying Pang, Garima Gupta, Chunzhang Yang, Herui Wang, Thanh-Truc Huynh, Ziedulla Abdullaev, Svetlana D Pack, Melanie J Percy, Terence R J Lappin, Zhengping Zhuang, Karel Pacak
BACKGROUND: The role of the hypoxia signaling pathway in the pathogenesis of pheochromocytoma/paraganglioma (PPGL)-polycythemia syndrome has been elucidated. Novel somatic mutations in hypoxia-inducible factor type 2A (HIF2A) and germline mutations in prolyl hydroxylase type 1 and type 2 (PHD1 and PHD2) have been identified to cause upregulation of the hypoxia signaling pathway and its target genes including erythropoietin (EPO) and its receptor (EPOR). However, in a minority of patients presenting with this syndrome, the genetics and molecular pathogenesis remain unexplained...
March 13, 2018: BMC Cancer
David Taïeb, Abhishek Jha, Carole Guerin, Ying Pang, Karen T Adams, Clara C Chen, Pauline Romanet, Philippe Roche, Wassim Essamet, Alexander Ling, Martha M Quezado, Frédéric Castinetti, Fréderic Sebag, Karel Pacak
Context: MYC associated factor X (MAX) has been recently described as a new susceptibility pheochromocytoma (PHEO) gene with a total of approximately 40 reported cases. At present, no study has specifically described the functional imaging phenotype of MAX-related PHEO. Objective, Patients, and Design: The objective of this study was to present our experience with contrast-enhanced CT and 18F-FDOPA PET/CT imaging in 6 consecutive patients (4 at initial diagnosis and 2 at follow-up evaluation) with rare but clinically important MAX-related PHEOs...
March 8, 2018: Journal of Clinical Endocrinology and Metabolism
Dennis César Lévano-Linares, Jaime Ruiz-Tovar, Alejandro García Muñoz-Najar, Verónica Familiar, Manuel Durán Poveda
No abstract text is available yet for this article.
March 7, 2018: Cirugía Española
Chrysanthi Aggeli, Alexander M Nixon, Christos Parianos, Georgios Vletsis, Labrini Papanastasiou, Theodora Kounadi, Georgrios Piaditis, Georgios N Zografos
OBJECTIVE: Resection of pheochromocytomas is a challenging procedure due to hemodynamic lability. Our aim was to evaluate surgical outcomes in 67 patients with pheochromocytoma and to validate the role of laparoscopic surgery in the treatment of these tumors. DESIGN: This study is a retrospective review. A total of 68 procedures for pheochromocytoma were performed between June 1997 and February 2017. All patients were investigated and operated on using an established departmental protocol...
October 2017: Hormones: International Journal of Endocrinology and Metabolism
Amy L Dimachkieh, Allison Dobbie, Damon R Olson, Mark A Lovell, Jeremy D Prager
OBJECTIVE: To review tracheal paragangliomas and describe the clinical presentation, radiologic findings, operative management, and histologic findings of a pediatric patient who presented with stridor refractory to traditional asthma therapy. METHODS: Chart review of an 8-year-old male who presented to a tertiary care pediatric hospital and literature review of tracheal paragangliomas. RESULTS: We present the case of an 8-year-old male who presented with new-onset of wheezing and dyspnea on exertion...
April 2018: International Journal of Pediatric Otorhinolaryngology
Yutaka Endo, Minoru Kitago, Akira Miyajima, Isao Kurihara, Kaori Kameyama, Masahiro Shinoda, Hiroshi Yagi, Yuta Abe, Taizo Hibi, Chisato Takagi, Yutaka Nakano, Wataru Koizumi, Osamu Itano, Yuko Kitagawa
INTRODUCTION: von Hippel-Lindau disease (vHL disease) is a hereditary disease in which tumors and cysts develop in many organs, in association with central nervous system hemangioblastomas, pheochromocytomas, and pancreatic tumors. We herein report a case of vHL disease (type 2A) associated with bilateral pheochromocytomas, pancreatic neuroendocrine tumors (PNET), and cerebellar hemangioblastomas treated via pancreatectomy after adrenalectomy. CASE PRESENTATION: A 51-year-old woman presented with a cerebellar tumor, bilateral hypernephroma, and pancreatic tumor detected during a medical checkup...
February 16, 2018: International Journal of Surgery Case Reports
Lin Li, Fuwen Sun, Xiaoyan Chen, Minghui Zhang
ISL1 plays a key role in several cancers, including pheochromocytoma, gastrointestinal, pancreatic, and lung tumors and bile duct carcinoma. In order to elucidate the role of ISL1 in breast cancer, we performed quantitative real-time polymerase chain reaction and Western blotting analysis, and we found that ISL1 was upregulated in breast cancer cells and tissues. Moreover, high expression of ISL1 was correlated with tumor size, metastasis, and poor prognosis. Colony formation analysis and CCK-8 analysis revealed that ISL1 facilitated breast cancer cell proliferation...
2018: OncoTargets and Therapy
Naoki Edo, Takahiro Yamamoto, Satoshi Takahashi, Yamato Mashimo, Koji Morita, Koji Saito, Hiroshi Kondo, Yuko Sasajima, Fukuo Kondo, Hiroko Okinaga, Kazuhisa Tsukamoto, Toshio Ishikawa
Pheochromocytoma rupture is rare, and emergent adrenalectomy is associated with a high mortality. We herein report a patient with pheochromocytoma rupture who was stabilized by transcatheter arterial embolization (TAE) and subsequently underwent elective surgery. A 45-year-old man presented with the sudden onset of left lateral abdominal pain, headache, chest discomfort, high blood pressure, and adrenal hemorrhaging on enhanced abdominal computed tomography. TAE was performed under a provisional diagnosis of pheochromocytoma rupture...
February 28, 2018: Internal Medicine
G Donatini, J L Kraimps, C Caillard, E Mirallie, F Pierre, Loïc De Calan, Hamy Antoine, O Larin, O Tovkay, S Cherenko
BACKGROUND: Pheochromocytoma (PHEO) in pregnancy is a life-threatening condition. Its management is challenging with regards to the timing and type of surgery. METHODS: A retrospective review of the management of ten patients diagnosed with pheochromocytoma during pregnancy was performed. Data were collected on the initial diagnostic workup, symptoms, treatment, and follow-up. RESULTS: PHEO was diagnosed in ten patients who were between the 10th and the 29th weeks of pregnancy...
February 27, 2018: Surgical Endoscopy
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