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Phaeochromocytoma

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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
#1
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
#2
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
#3
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
#4
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 individualised, 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
#5
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
#6
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
#7
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 3, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27797837/phaeochromocytoma-presenting-as-an-acute-coronary-syndrome
#8
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/phaeochromocytomas-are-diagnosed-incidentally-and-at-older-age-in-neurofibromatosis-type-1
#9
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 phaeochromocytoma (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 characterise and compare parameters of PHEO in NF1 patients to patients with or without other germline mutations. METHODS: 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
#10
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
#11
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
#12
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
#13
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 20(th) century(1) to 0-2...
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
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/27621146/origins-and-early-development-of-the-concept-that-brown-adipose-tissue-thermogenesis-is-linked-to-energy-balance-and-obesity
#17
Paul Trayhurn
Brown adipose tissue (BAT) was identified as a thermogenic organ in 1961, and in 1978 shown to be the major site of thermoregulatory non-shivering thermogenesis in rats acclimated to the cold. Investigations in the mid-late 1970s established the uncoupling of oxidative phosphorylation through a proton conductance pathway across the mitochondrial inner membrane as the mechanism for heat production in BAT, this being regulated by UCP1 which was first discovered as a 32,000 Mr cold-inducible protein. These developments came when those concerned with nutritional energetics were proposing that thermogenesis is a significant factor in energy balance and the aetiology of obesity...
September 10, 2016: Biochimie
https://www.readbyqxmd.com/read/27564276/presentation-and-surgery-outcomes-in-elderly-with-pheocromocytoma-a-comparative-analysis-with-young-patients
#18
Victor Srougi, Jose L Chambo, Fabio Y Tanno, Iracy S Soares, Madson Q Almeida, Maria A A Pereira, Miguel Srougi, Maria C Fragoso
PURPOSE: To evaluate the presentation and early surgical outcomes of elderly patients undergoing adrenalectomy for phaeochromocytoma. PATIENTS AND METHODS: A retrospective search was performed of our adrenal disorders database for patients who underwent surgery for phaeochromocytoma or paraganglioma between 2009 and 2014. Patients >60 years old were classified as elderly. The clinical manifestations, intraoperative course, and early postoperative outcomes of elderly patients were compared to those of younger individuals (<60 years old)...
July 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27551892/bilateral-adrenalectomy-a-review-of-10-years-experience
#19
D Maccora, G V Walls, G P Sadler, R Mihai
INTRODUCTION The 2012 British Association of Endocrine and Thyroid Surgeons audit report showed that only 86 of 1359 patients who underwent adrenalectomy had a bilateral operation; thus the experience with this procedure remains limited. METHODS Retrospective review of patients undergoing bilateral adrenalectomy in a tertiary referral centre. RESULTS Between November 2005 and January 2016, bilateral adrenalectomy was performed in 23 patients (6 male, 17 female, age 43 ± 4 years) diagnosed with Cushing's disease (n = 13), hereditary phaeochromocytomas (n = 6), adrenocortical cancer (n = 2), colorectal metastatic disease (n = 1) and adrenocortical adenomas (n = 1)...
August 23, 2016: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/27523316/-hereditary-phaeochromocytoma-in-twins
#20
Géza Tóth, Attila Patócs, Miklós Tóth
Phaeochromocytoma is a tumor of the catecholamine-producing cells of the adrenal gland. Extraadrenal phaeochromocytomas are frequently called paragangliomas. The majority of phaeochromocytomas are sporadic, however, about 25-30% are caused by genetic mutation. These tumor are frequently referred as hereditary phaeochromocytomas/paragangliomas. Their incidence increases continuously which can be attributed to availability of genetic examination and to the discovery of novel genes. The 47-year-old female patient underwent abdominal computed tomography which revealed bilateral adrenal gland enlargement...
August 2016: Orvosi Hetilap
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