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Phaeochromocytoma

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https://www.readbyqxmd.com/read/28018063/endoprosthetic-reconstruction-for-metastatic-phaeochromocytoma-in-the-distal-femur-a-case-report
#1
Kanchana Pala Srikanth, Chirukuri Srinivas, Lakshmipura Gangadharaiah Gowrishankarswamy, Chikkamuniyappa Chandrasekar
Metastatic spread of malignant phaeochromocytoma is known to involve multiple organs including the axial skeleton. Its presentation as a solitary lesion in the long bones of the extremities is extremely rare. We report a unique case of solitary metastatic phaeochromocytoma presenting in the distal femur, 16 years after excision of primary abdominal tumor. A 60 year old female, operated for adrenal phaeochromocytoma 16 years back was detected to have a bone tumor in her left distal femur. Chest and abdominal CT evaluation including bone scintigraphy confirmed the lesion to be solitary...
October 2016: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/27994876/disease-modifying-polymorphisms-and-c609y-mutation-of-ret-associated-with-high-penetrance-of-phaeochromocytoma-and-low-rate-of-mtc-in-men2a
#2
Rowena Speak, Jackie Cook, Barney Harrison, John Newell-Price
: Mutations of the rearranged during transfection (RET) proto-oncogene, located on chromosome 10q11.2, cause multiple endocrine neoplasia type 2A (MEN2A). Patients with mutations at the codon 609 usually exhibit a high penetrance of medullary thyroid cancer (MTC), but a sufficiently low penetrance of phaeochromocytoma that screening for this latter complication has been called to question. Patients with other RET mutations are at higher risk of younger age onset phaeochromocytoma if they also possess other RET polymorphisms (L769L, S836S, G691S and S904S), but there are no similar data for patients with 609 mutations...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27987712/hyaluronic-acid-doped-poly-3-4-ethylenedioxythiophene-chitosan-gelatin-pedot-ha-cs-gel-porous-conductive-scaffold-for-nerve-regeneration
#3
Shuping Wang, Shui Guan, Zhibo Zhu, Wenfang Li, Tianqing Liu, Xuehu Ma
Conducting polymer, as a "smart" biomaterial, has been increasingly used to construct tissue engineered scaffold for nerve tissue regeneration. In this study, a novel porous conductive scaffold was prepared by incorporating conductive hyaluronic acid (HA) doped-poly(3,4-ethylenedioxythiophene) (PEDOT-HA) nanoparticles into a chitosan/gelatin (Cs/Gel) matrix. The physicochemical characteristics of Cs/Gel scaffold with 0-10wt% PEDOT-HA were analyzed and the results indicated that the incorporation of PEDOT-HA into scaffold increased the electrical and mechanical properties while decreasing the porosity and water absorption...
February 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/27986441/silent-genetic-alterations-identified-by-targeted-next-generation-sequencing-in-pheochromocytoma-paraganglioma-a-clinicopathological-correlations
#4
Suja Pillai, Vinod Gopalan, Chung Y Lo, Victor Liew, Robert A Smith, Alfred King Y Lam
AIMS: The goal of this pilot study was to develop a customized, cost-effective amplicon panel (Ampliseq) for target sequencing in a cohort of patients with sporadic phaeochromocytoma/paraganglioma. METHODS: Phaeochromocytoma/paragangliomas from 25 patients were analysed by targeted next-generation sequencing approach using an Ion Torrent PGM instrument. Primers for 15 target genes (NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, MEN1, KIF1Bβ, EPAS1, CDKN2 & PHD2) were designed using ion ampliseq designer...
December 13, 2016: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/27890514/effectiveness-of-radiolabelled-somatostatin-analogues-90-y-dotatoc-and-177-lu-dotatate-in-patients-with-metastatic-neuroendocrine-tumours-a-single-centre-experience-in-mexico
#5
S S Medina-Ornelas, F O García-Pérez
OBJECTIVE: To determine the effectiveness of therapy with the radiolabelled somatostatin analogues, (90)Y-DOTATOC and (177)Lu-DOTATATE, in the treatment of metastatic neuroendocrine tumours with progression to first-line treatment. MATERIAL AND METHODS: A study was conducted on 30 patients diagnosed with neuroendocrine tumours (gastroenteropancreatic, bronchopulmonary, MEN2A, MEN2B, phaeochromocytoma, and paraganglioma) with metastatic disease diagnosed by the pathology department, with progression to first-line treatment, and recruited from December 2014 to February 2016...
November 24, 2016: Revista Española de Medicina Nuclear e Imagen Molecular
https://www.readbyqxmd.com/read/27888488/phaeochromocytoma-and-paraganglioma
#6
P T Kavinga Gunawardane, Ashley Grossman
Phaeochromocytomas and paragangliomas are relatively uncommon tumours which may be manifest in many ways, specifically as sustained or paroxysmal hypertension, episodes of palpitations, sweating, headache and anxiety, or increasingly as an incidental finding. Recent studies have shown that an increasing number are due to germline mutations. This review concentrates on the diagnosis, biochemistry and treatment of these fascinating tumours.
November 26, 2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27869719/targeted-molecular-imaging-in-adrenal-disease-an-emerging-role-for-metomidate-pet-ct
#7
REVIEW
Iosif A Mendichovszky, Andrew S Powlson, Roido Manavaki, Franklin I Aigbirhio, Heok Cheow, John R Buscombe, Mark Gurnell, Fiona J Gilbert
Adrenal lesions present a significant diagnostic burden for both radiologists and endocrinologists, especially with the increasing number of adrenal 'incidentalomas' detected on modern computed tomography (CT) or magnetic resonance imaging (MRI). A key objective is the reliable distinction of benign disease from either primary adrenal malignancy (e.g., adrenocortical carcinoma or malignant forms of pheochromocytoma/paraganglioma (PPGL)) or metastases (e.g., bronchial, renal). Benign lesions may still be associated with adverse sequelae through autonomous hormone hypersecretion (e...
November 18, 2016: Diagnostics
https://www.readbyqxmd.com/read/27864838/preoperative-alpha-blockade-in-phaeochromocytoma-and-paraganglioma-is-it-always-necessary
#8
Michelle Isaacs, Paul Lee
Resection of phaeochromocytoma and paraganglioma (PPGL) is traditionally preceded by alpha-blockade to prevent complications of haemodynamic instability intraoperatively. While there is general agreement on preoperative alpha-blockade for classic PPGLs presenting with hypertension, it is less clear whether alpha-blockade is necessary in predominantly dopamine-secreting tumours, normotensive PPGLs, as well as tumours that appear to be biochemically 'silent'. Preoperative management of these 'atypical' PPGLs is challenging and the treatment approach must be individualized, carefully weighing the risk of intraoperative hypertension against the possibility of orthostatic and prolonged postoperative hypotension...
November 19, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27857127/consensus-statement-on-next-generation-sequencing-based-diagnostic-testing-of-hereditary-phaeochromocytomas-and-paragangliomas
#9
Rodrigo A Toledo, Nelly Burnichon, Alberto Cascon, Diana E Benn, Jean-Pierre Bayley, Jenny Welander, Carli M Tops, Helen Firth, Trish Dwight, Tonino Ercolino, Massimo Mannelli, Giuseppe Opocher, Roderick Clifton-Bligh, Oliver Gimm, Eamonn R Maher, Mercedes Robledo, Anne-Paule Gimenez-Roqueplo, Patricia L M Dahia
Phaeochromocytomas and paragangliomas (PPGLs) are neural-crest-derived tumours of the sympathetic or parasympathetic nervous system that are often inherited and are genetically heterogeneous. Genetic testing is recommended for patients with these tumours and for family members of patients with hereditary forms of PPGLs. Due to the large number of susceptibility genes implicated in the diagnosis of inherited PPGLs, next-generation sequencing (NGS) technology is ideally suited for carrying out genetic screening of these individuals...
November 18, 2016: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/27856506/risk-assessment-of-maternally-inherited-sdhd-paraganglioma-and-phaeochromocytoma
#10
Nelly Burnichon, Jean-Michaël Mazzella, Delphine Drui, Laurence Amar, Jérôme Bertherat, Isabelle Coupier, Brigitte Delemer, Isabelle Guilhem, Philippe Herman, Véronique Kerlan, Antoine Tabarin, Nelly Wion, Khadija Lahlou-Laforet, Judith Favier, Anne-Paule Gimenez-Roqueplo
BACKGROUND: Germline mutations in the SDHD tumour suppressor gene (11q23.1) predispose to phaeochromocytomas and paragangliomas (PPGL) mainly on a paternal transmission. However, PPGL have been recently reported in three carriers of a maternally inherited SDHD mutation. OBJECTIVE: To assess the risk of PPGL occurrence on maternal transmission of SDHD mutation. METHODS: Pedigrees of 80 SDHD-related families have been reviewed. 35 asymptomatic subjects carrying a maternally transmitted SDHD mutation were identified...
November 17, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27808580/recurrence-of-phaeochromocytoma-in-pregnancy-in-a-patient-with-multiple-endocrine-neoplasia-2a-a-case-report-and-review-of-literature
#11
Efterpi Tingi, Angelos Kyriacou, Lynda Verghese
Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant inherited condition with a prevalence of one in 40 000 individuals. It causes the development of tumours in endocrine glands, such as medullary thyroid cancer, pheochromocytomas, as well as primary hyperparathyroidism. MEN 2A in pregnancy is very rare with only 29 cases reported in the literature. The presence of pheochromocytoma is a rare cause of hypertension during pregnancy with an incidence of 0.007% of all pregnancies. This has severe implications on both mother and the foetus...
November 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27797837/phaeochromocytoma-presenting-as-an-acute-coronary-syndrome
#12
Towhid Imam, Philip Finny, Alan Choo-Kang, Rehman Khan
A 44-year-old Caucasian man presented to the emergency department in acute cardiogenic shock, with pulmonary oedema, secondary to an acute myocardial infarction and in a hyperosmolar hyperglycaemic state. The previous day he had undergone a colonoscopy, which revealed features of colitis, and was started on prednisolone. He had been previously diagnosed with type 2 diabetes, migraine and anxiety attacks. While awaiting a coronary angiogram he developed abdominal pain and a CT scan was performed and found a large right adrenal mass...
October 26, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27787920/pheochromocytomas-are-diagnosed-incidentally-and-at-older-age-in-neurofibromatosis-type-1
#13
Jessica Moramarco, Nada El Ghorayeb, Nadine Dumas, Serge Nolet, Luce Boulanger, Nelly Burnichon, André Lacroix, Zaki Elhaffaf, Anne-Paule Gimenez Roqueplo, Pavel Hamet, Isabelle Bourdeau
INTRODUCTION: Guidelines do not currently recommend routine systematic hormonal screening for pheochromocytoma (PHEO) in all/normotensive patients with neurofibromatosis type 1 (NF1), in contrast to other PHEO-predisposing genetic syndromes such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. OBJECTIVES: To characterize and compare parameters of PHEO in patients with NF1 to patients with or without other germline mutations. METHODS: A retrospective chart review of patients with histologically proven PHEO at the Centre hospitalier de l'Université de Montréal from 2000 through 2015...
October 27, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27761935/alpha-blockade-not-to-be-underdone
#14
LETTER
Nicola Tufton, Kirun Gunganah, Shazia Hussain, Maralyn Druce, Robert Carpenter, Michael Ashby, William M Drake, Scott A Akker
No abstract text is available yet for this article.
October 19, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27704398/the-ret-e616q-variant-is-a-gain-of-function-mutation-present-in-a-family-with-features-of-multiple-endocrine-neoplasia-2a
#15
William Grey, Rosaline Hulse, Anna Yakovleva, Dilyana Genkova, Benjamin Whitelaw, Ellen Solomon, Salvador J Diaz-Cano, Louise Izatt
The REarranged during Transfection (RET) proto-oncogene is a receptor tyrosine kinase involved in growth and differentiation during embryogenesis and maintenance of the urogenital and nervous systems in mammals. Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Type 2A (MEN2A) characterised by development of medullary thyroid cancer (MTC), phaeochromocytoma (PCC) and primary hyperparathyroidism (PHPT), with a strong correlation between genotype and phenotype. Here, we report a 42-year-old man presented in the clinic with a unilateral PCC, with subsequent investigations revealing a nodular and cystic thyroid gland...
October 5, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27699857/phaeochromocytoma-presenting-with-labile-blood-pressures-following-coronary-artery-bypass-grafting
#16
James Roy, Zakir Akhunji, Virag Kushwaha, James Mackie, Nigel Jepson
Pheochromocytomas have been reported prior to and during coronary artery bypass surgery. We present a patient with an undiagnosed pheochromocytoma who presented with labile hypertension following coronary artery bypass surgery. This case calls attention to the inclusion of an undiagnosed pheochromocytoma in the differential diagnosis for all patients who develop labile hypertension in the postoperative period following cardiac surgery.
December 2016: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/27696513/is-there-an-optimal-preoperative-management-strategy-for-phaeochromocytoma-paraganglioma
#17
B G Challis, R T Casey, H L Simpson, M Gurnell
Phaeochromocytomas and paragangliomas (PPGLs) are catecholamine secreting neuroendocrine tumours that predispose to haemodynamic instability. Currently, surgery is the only available curative treatment, but carries potential risks including hypertensive and hypotensive crises, cardiac arrhythmias, myocardial infarction and stroke, due to tumoral release of catecholamines during anaesthetic induction and tumour manipulation. The mortality associated with surgical resection of PPGL has significantly improved from 20-45% in the early 20th century (Apgar & Papper, AMA Archives of Surgery, 1951, 62, 634) to 0-2·9% in the early 21st century (Kinney et al...
October 3, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27678251/outcomes-of-annual-surveillance-imaging-in-an-adult-and-paediatric-cohort-of-succinate-dehydrogenase-b-mutation-carriers
#18
Nicola Tufton, Lucy Shapiro, Umasuthan Srirangalingam, Polly Richards, Anju Sahdev, Ajith V Kumar, Lorraine McAndrew, Lee Martin, Daniel Berney, John Monson, Shern L Chew, Mona Waterhouse, Maralyn Druce, Márta Korbonits, Karl Metcalfe, William M Drake, Helen L Storr, Scott A Akker
OBJECTIVE: For 'asymptomatic carriers' of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the appropriate modality or frequency of surveillance imaging. We present the results of a surveillance programme of SDHB mutation carriers. DESIGN: Review of clinical outcomes of a surveillance regimen in patients identified to have an SDHB gene mutation, based on annual MRI, in a single UK tertiary referral centre. PATIENTS: A total of 92 patients were identified with an SDHB gene mutation...
September 28, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27634942/rapid-sequence-mri-for-long-term-surveillance-for-paraganglioma-and-phaeochromocytoma-in-patients-with-succinate-dehydrogenase-mutations
#19
Eleni Daniel, Robert Jones, Matthew Bull, John Newell-Price
BACKGROUND: Patients with SDHx mutations need long-term radiological surveillance for the development of paragangliomas and phaeochromocytomas, but no longitudinal data exist. The aim of the study was to assess the performance of rapid-sequence non-contrast magnetic resonance imaging (MRI) in the long-term monitoring of patients with SDHx mutations. METHODS: Retrospective study between 2005 and 2015 at a University Hospital and regional endocrine genetics referral centre...
December 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27623515/the-author-s-reply-inappropriate-adrenoreceptor-blockade-prior-to-pheochromocytoma-removal-a-timely-reappraisal
#20
LETTER
Henrique V Luiz, Run Yu, Katherine Wolf, Ning Miao, Andrew Mannes, Karel Pacak
No abstract text is available yet for this article.
December 2016: Clinical Endocrinology
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