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Phaeochromocytoma

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https://www.readbyqxmd.com/read/29341163/extent-of-surgery-for-phaeochromocytomas-in-the-genomic-era
#1
REVIEW
H M Rossitti, P Söderkvist, O Gimm
BACKGROUND: Germline mutations are present in 20-30 per cent of patients with phaeochromocytoma. For patients who develop bilateral disease, complete removal of both adrenal glands (total adrenalectomy) will result in lifelong adrenal insufficiency with an increased risk of death from adrenal crisis. Unilateral/bilateral adrenal-sparing surgery (subtotal adrenalectomy) offers preservation of cortical function and independence from steroids, but leaves the adrenal medulla in situ and thus at risk of developing new and possibly malignant disease...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29332973/metabologenomics-of-phaeochromocytoma-and-paraganglioma-an-integrated-approach-for-personalised-biochemical-and-genetic-testing
#2
REVIEW
Graeme Eisenhofer, Barbara Klink, Susan Richter, Jacques Wm Lenders, Mercedes Robledo
The tremendous advances over the past two decades in both clinical genetics and biochemical testing of chromaffin cell tumours have led to new considerations about how these aspects of laboratory medicine can be integrated to improve diagnosis and management of affected patients. With germline mutations in 15 genes now identified to be responsible for over a third of all cases of phaeochromocytomas and paragangliomas, these tumours are recognised to have one of the richest hereditary backgrounds among all neoplasms...
April 2017: Clinical Biochemist. Reviews
https://www.readbyqxmd.com/read/29242944/a-laparoscopic-revelation-incidental-nodule-in-a-patient-with-bilateral-phaeochromocytoma-in-multiple-endocrine-neoplasia-type-2a
#3
Vikram Sonawane, Reyaz Singaporewalla, Nga Min En, C Rajasoorya
No abstract text is available yet for this article.
December 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/29239044/pathology-and-genetics-of-phaeochromocytoma-and-paraganglioma
#4
REVIEW
John Turchini, Veronica K Y Cheung, Arthur S Tischler, Ronald R De Krijger, Anthony J Gill
Phaeochromocytoma and paraganglioma (PHEO/PGL) are rare tumours with an estimated annual incidence of 3 per million. Advances in molecular understanding have led to the recognition that at least 30-40% arise in the setting of hereditary disease. Germline mutations in the succinate dehydrogenase genes SDHA, SDHB, SDHC, SDHD and SDHAF2 are the most prevalent of the more than 19 hereditary genetic abnormalities which have been reported. It is therefore recommended that, depending on local resources and availability, at least some degree of genetic testing should be offered to all PHEO/PGL patients, including those with clinically sporadic disease...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29239032/challenges-in-surgical-pathology-of-adrenocortical-tumours
#5
REVIEW
Lori A Erickson
Adrenocortical carcinomas are rare tumours that can be diagnostically challenging. Numerous multiparametric scoring systems and diagnostic algorithms have been proposed to differentiate adrenocortical adenoma from adrenocortical carcinoma. Adrenocortical neoplasms must also be differentiated from other primary adrenal tumours, such as phaeochromocytoma and unusual primary adrenal tumours, as well as metastases to the adrenal gland. Myxoid, oncocytic and sarcomatoid variants of adrenocortical tumours must be recognized so that they are not confused with other tumours...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29222020/synthesis-of-protocatechuic-acid-grafted-chitosan-copolymer-structure-characterization-and-in-vitro-neuroprotective-potential
#6
Chao Xu, Shui Guan, Bo Wang, Shuping Wang, Yuxin Wang, Changkai Sun, Xuehu Ma, Tianqing Liu
Excessive free radicals can cause oxidative damage to human tissues, which results in a variety of diseases. Therefore, the development of antioxidant materials is one of the great projects in biomedical field. In this work, antioxidant protocatechuic acid (PCA) monomers were grafted onto chitosan (CS) backbones to develop a PCA grafted chitosan (PCA-g-CS) antioxidant copolymer via the method of free radical-induced grafting reaction. The formation of covalent bonds between PCA and CS were confirmed by FTIR, 1H NMR, XRD and UV-Vis...
December 5, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29210843/intraoperative-hypotension-is-associated-with-acute-kidney-injury-in-noncardiac-surgery-an-observational-study
#7
Linn Hallqvist, Fredrik Granath, Elin Huldt, Max Bell
BACKGROUND: Perioperative acute kidney injury (AKI) is common and increases the risk of morbidity and mortality. OBJECTIVES: To determine the association between intraoperative hypotension, defined as an individual decrease from baseline and the risk of perioperative AKI. DESIGN: Observational cohort study. SETTING: Karolinska University Hospital, Stockholm, Sweden, from October 2012 to May 2013 and October 2015 and April 2016...
November 27, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/29203998/optimal-management-of-a-synchronous-diagnosis-of-phaeochromocytoma-and-colorectal-neoplasia
#8
Ridwaan Sohawon, Peter Truran, Jonathan Webster, Barney J Harrison, Sabapathy P Balasubramanian
The incidence rates of phaeochromocytoma and colorectal cancer (CRC) are approximately 1 and 65 per 100,000 per year, respectively. Simultaneous presentation of these conditions is rare and poses unique management challenges. We report on treatment strategies and clinical outcomes in a series of patients with colorectal neoplasia and phaeochromocytoma. Demographic and clinical details of four patients over a 4-year period were reviewed. The median (range) age at first presentation was 66 (52-70) years. Phaeochromocytoma (2...
December 2017: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29166454/the-clinical-genetics-of-phaeochromocytoma-and-paraganglioma
#9
REVIEW
P T Kavinga Gunawardane, Ashley Grossman
Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours. Germline mutations are almost always found in syndromic patients. Nonetheless, apparently sporadic phaeochromocytoma too show high germline mutation rates. Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis...
October 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29147618/programmed-cell-death-ligands-expression-in-phaeochromocytomas-and-paragangliomas-relationship-with-the-hypoxic-response-immune-evasion-and-malignant-behavior
#10
David J Pinato, James R Black, Sebastian Trousil, Roberto E Dina, Pritesh Trivedi, Francesco A Mauri, Rohini Sharma
The hypoxic response underlies the pathogenesis and malignant behavior of PCC/PGL. Regulation of PD-1 receptor-ligand signaling, a therapeutically actionable driver of the anti-tumor immune response, is a hypoxic-driven trait across malignancies. We evaluated the prognostic role of PD ligands in association with biomarkers of hypoxia and angiogenesis in patients with PCC/PGL. Tissue microarrays sections including consecutive cases diagnosed between 1983-2011 were stained for PD-L1 and 2, hypoxia inducible factor 1a (Hif-1a), Carbonic Anhydrase IX (CaIX), Vascular Endothelial Growth Factor-A (VEGF-A)...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/29147570/management-of-an-acute-catecholamine-induced-cardiomyopathy-and-circulatory-collapse-a-multidisciplinary-approach
#11
R T Casey, B G Challis, D Pitfield, R M Mahroof, N Jamieson, C J Bhagra, A Vuylsteke, S J Pettit, K C Chatterjee
A phaeochromocytoma (PC) is a rare, catecholamine-secreting neuroendocrine tumour arising from the adrenal medulla. Presenting symptoms of this rare tumour are highly variable but life-threatening multiorgan dysfunction can occur secondary to catecholamine-induced hypertension or hypotension and subsequent cardiovascular collapse. High levels of circulating catecholamines can induce an acute stress cardiomyopathy, also known as Takotsubo cardiomyopathy. Recent studies have focused on early diagnosis and estimation of the prevalence of acute stress cardiomyopathy in patients with PC, but very little is reported about management of these complex cases...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29102976/giant-phaeochromocytoma-presenting-with-an-acute-stroke-reappraising-phaeochromocytoma-surveillance-for-the-neurofibromatosis-type-1-phakomatosis
#12
Yingshan Lee, Leon Yuan Rui Tan, Yong Howe Ho, Melvin Khee Shing Leow
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder associated with reduced lifespan attributed largely to malignancy and vascular causes. One of the tumours associated with NF1 is phaeochromocytoma. The phaeochromocytoma has earned the moniker, a 'great mimicker', due to its varied means of presentation. We present a patient with NF1 who was diagnosed with a giant 20 cm phaeochromocytoma after suffering from an ischaemic stroke. Current guidelines do not advocate surveillance of phaeochromocytoma in asymptomatic patients with NF1, unlike other genetic syndromes associated with phaeochromocytoma...
November 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29068510/characteristics-of-adrenal-incidentalomas-in-a-new-zealand-centre
#13
Z Goh, I Phillips, P J Hunt, S Soule, T J Cawood
BACKGROUND: Management of adrenal incidentalomas (AI) is becoming more conservative, based on international data showing a low incidence of functional or malignant lesions. The clinical characteristics of AI in New Zealand are unknown. Therefore, whether the AI guidelines apply to the New Zealand population is also unknown. AIMS: To investigate the clinical characteristics of patients with AI presenting to a tertiary-care centre in New Zealand. METHOD: This study prospectively evaluated consecutive patients aged 18 or older with AI, 1 cm or larger, diagnosed in Canterbury, New Zealand...
October 25, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/29066504/patient-quality-of-life-and-prognosis-in-men2
#14
Joanna Grey, Kym Winter
Multiple endocrine neoplasia type 2 (MEN2) refers to the autosomal dominant neuroendocrine tumour syndromes, MEN type 2A (MEN2A) and MEN type 2B (MEN2B). They are typified by the development of medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid hyperplasia in MEN2A, and MTC, phaeochromocytomas, ganglioneuromatosis and skeletal abnormalities in MEN2B. The aggressiveness of MTC is variable according to genotype, and although it is still the major cause of mortality in both conditions, prognosis has improved dramatically in those diagnosed and treated at a young age thanks to predictive genetic testing...
October 24, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29027806/annals-express-clinical-evaluation-and-treatment-of-phaeochromocytoma
#15
Andrew Stuart Davison, Danielle Jones, Stuart Ruthven, Timothy Helliwell, Susannah L Shore
Phaeochromocytoma and extra adrenal paraganglioma are rare neuroendocrine tumours and have the potential to secrete adrenaline, noradrenaline and dopamine causing a myriad of clinical symptoms. Prompt diagnosis is essential for clinicians and requires a multi-disciplinary specialist approach for the clinical and laboratory investigation, diagnosis, treatment and follow-up of patients. This paper is an integrated review of the clinical and laboratory evaluation and treatment of patients suspected to have phaeochromocytoma or paraganglioma, highlighting recent developments and best practices from recent published clinical guidelines...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/28973655/clinical-and-molecular-features-of-renal-and-pheochromocytoma-paraganglioma-tumor-association-syndrome-raptas-case-series-and-literature-review
#16
Ruth T Casey, Anne Y Warren, Jose Ezequiel Martin, Benjamin G Challis, Eleanor Rattenberry, James Whitworth, Katrina A Andrews, Thomas Roberts, Graeme R Clark, Hannah West, Philip S Smith, France M Docquier, Fay Rodger, Vicki Murray, Helen L Simpson, Yvonne Wallis, Olivier Giger, Maxine Tran, Susan Tomkins, Grant D Stewart, Soo-Mi Park, Emma R Woodward, Eamonn R Maher
Context: The co-occurrence of pheochromocytoma (PC) and renal tumors was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL) disease more than six decades ago. Subsequently, other shared genetic causes of predisposition to renal tumors and to PC, paraganglioma (PGL), or head and neck paraganglioma (HNPGL) have been described, but case series of non-VHL-related cases of renal tumor and pheochromocytoma/paraganglioma tumor association syndrome (RAPTAS) are rare. Objective: To determine the clinical and molecular features of non-VHL RAPTAS by literature review and characterization of a case series...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28969333/safety-assessments-in-the-avoidance-of-preoperative-%C3%AE-receptor-blockade-in-phaeochromocytoma-surgery-the-pitfalls-of-a-zero-numerator
#17
H P Grocott
No abstract text is available yet for this article.
September 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28969332/author-s-reply-to-grocott-risk-of-cardiac-ischaemia-in-patients-without-%C3%AE-receptor-blockade-for-phaeochromocytoma-surgery
#18
H Groeben
No abstract text is available yet for this article.
September 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28965289/when-should-genetic-testing-be-performed-in-patients-with-neuroendocrine-tumours
#19
REVIEW
Triona O'Shea, Maralyn Druce
Neuroendocrine tumours (NETs) are a heterogenous group of tumours arising from neuroendocrine cells in several sites around the body. They include tumours of the gastroenteropancreatic system, phaeochromocytoma and paraganglioma and medullary thyroid cancer. In recent years, it has become increasingly apparent that a number of these tumours arise as a result of germline genetic mutations and are inherited in an autosomal dominant pattern. The number of genes implicated is increasing rapidly. Identifying which patients are likely to have a germline mutation enables clinicians to counsel patients adequately about their future disease risk, and allows for earlier detection of at-risk patients through family screening...
September 30, 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/28924583/screening-for-primary-aldosteronism-using-the-newly-developed-ids-isys%C3%A2-automated-assay-system
#20
P M O'Shea, T P Griffin, G A Browne, N Gallagher, J J Brady, M C Dennedy, M Bell, D Wall, M Fitzgibbon
BACKGROUND: The recommended approach to screening for primary aldosteronism (PA) in at-risk populations is to determine the ratio of aldosterone concentration (serum (SAC)/plasma (PAC)) to renin measured in plasma as activity (PRA) or concentration (DRC). However, lack of assay standardisation mandates the need for method-specific decision thresholds and clinical validation in the local population. AIM: The study objective was to establish method-specific aldosterone: renin ratio (ARR) cut-offs for PA in men and women using the IDS-iSYS® assay system (IDS plc)...
April 2017: Practical Laboratory Medicine
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