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NCBI: db=pubmed; Term=adrenal tumor
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Less is more: cost-effectiveness analysis of surveillance strategies for small, nonfunctional, radiographically benign adrenal incidentalomas.

Sat, 01/06/2018 - 19:14
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Less is more: cost-effectiveness analysis of surveillance strategies for small, nonfunctional, radiographically benign adrenal incidentalomas.

Surgery. 2018 Jan;163(1):197-204

Authors: Chomsky-Higgins K, Seib C, Rochefort H, Gosnell J, Shen WT, Kahn JG, Duh QY, Suh I

Abstract
BACKGROUND: Guidelines for management of small adrenal incidentalomas are mutually inconsistent. No cost-effectiveness analysis has been performed to evaluate rigorously the relative merits of these strategies.
METHODS: We constructed a decision-analytic model to evaluate surveillance strategies for <4cm, nonfunctional, benign-appearing adrenal incidentalomas. We evaluated 4 surveillance strategies: none, one-time, annual for 2 years, and annual for 5 years. Threshold and sensitivity analyses assessed robustness of the model. Costs were represented in 2016 US dollars and health outcomes in quality-adjusted life-years.
RESULTS: No surveillance has an expected net cost of $262 and 26.22 quality-adjusted life-years. One-time surveillance costs $158 more and adds 0.2 quality-adjusted life-years for an incremental cost-effectiveness ratio of $778/quality-adjusted life-years. The strategies involving more surveillance were dominated by the no surveillance and one-time surveillance strategies less effective and more expensive. Above a 0.7% prevalence of adrenocortical carcinoma, one-time surveillance was the most effective strategy. The results were robust to all sensitivity analyses of disease prevalence, sensitivity, and specificity of diagnostic assays and imaging as well as health state utility.
CONCLUSION: For patients with a < 4cm, nonfunctional, benign-appearing mass, one-time follow-up evaluation involving a noncontrast computed tomography and biochemical evaluation is cost-effective. Strategies requiring more surveillance accrue more cost without incremental benefit.

PMID: 29129360 [PubMed - indexed for MEDLINE]

Hemodynamic instability during surgery for pheochromocytoma: comparing the transperitoneal and retroperitoneal approach in a multicenter analysis of 341 patients.

Sat, 01/06/2018 - 19:14
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Hemodynamic instability during surgery for pheochromocytoma: comparing the transperitoneal and retroperitoneal approach in a multicenter analysis of 341 patients.

Surgery. 2018 Jan;163(1):176-182

Authors: Vorselaars WMCM, Postma EL, Mirallie E, Thiery J, Lustgarten M, Pasternak JD, Bellantone R, Raffaelli M, Fahey T, Vriens MR, Bresler L, Brunaud L, Zarnegar R

Abstract
BACKGROUND: Intraoperative hemodynamic instability is a major challenge during adrenalectomy for pheochromocytoma. Typically, pheochromocytoma is performed laparoscopically either through the retroperitoneal or transperitoneal approach. We aimed to determine if the operative approach affects intraoperative hemodynamic instability during surgery for pheochromocytoma in a large multicenter multicenter cohort.
METHODS: Retrospective, multicenter analysis of consecutive patients with pheochromocytoma who underwent total unilateral laparoscopic adrenalectomy without conversion were included. Statistical analysis was performed using established intraoperative criteria for intraoperative hemodynamic instability: 1) systolic blood pressure >160 mm Hg; 2) systolic blood pressure > 200 mm Hg; 3) mean arterial pressure <60 mm Hg; 4) systolic blood pressure >160 mm Hg + mean arterial pressure <60 mm Hg; and 5) systolic blood pressure >200 mm Hg + mean arterial pressure <60 mm Hg; and 6) intravenous vasopressor + vasodilator.
RESULTS: In total, 341 patients met the inclusion criteria, 101 (29.6%) underwent retroperitoneal adrenalectomy and 240 (70.4%) transperitoneal adrenalectomy. Multivariate analysis showed that retroperitoneal adrenalectomy carries greater risk for mean arterial pressure <60 mm Hg (odds ratio 6.255, confidence interval 1.134-34.235, P = .035) compared with transperitoneal adrenalectomy. Overall and cardiovascular morbidity rates were comparable between the 2 approaches. The medical center was a significant independent influencing factor for all 6 intraoperative hemodynamic instability definitions.
CONCLUSION: Variability in institutional management of pheochromocytoma intraoperatively has significant impact on all 6 intraoperative hemodynamic instability definitions. Standardization of anesthesia should be considered to reduce this variability.

PMID: 29122324 [PubMed - indexed for MEDLINE]

A Late Diagnosis of Primary Aldosteronism.

Sat, 01/06/2018 - 19:14
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A Late Diagnosis of Primary Aldosteronism.

High Blood Press Cardiovasc Prev. 2017 Sep;24(3):347-349

Authors: Zorzi F, Olivieri O, Brazzarola P, Pizzolo F

Abstract
We report the case of a 41-year-old male patient with juvenile onset refractory hypertension while taking four drugs including a diuretic. Fourteen years before he underwent a complete investigation for secondary hypertension (including the aldosterone to renin ratio-ARR) that was negative. Since that, hypertension control gradually worsened, hypertensive organ damage aggravated and hypokalemia developed in spite of ACE inhibitor treatment. At the re-evaluation ARR was elevated, and the further workup for primary aldosteronism demonstrated an unilateral aldosterone producing adenoma that was surgically removed, with subsequent optimal blood pressure control with two anti-hypertensive drugs. In this case, the failure of the first screening prevented a correct diagnosis of primary aldosteronism, with consequent inadequate blood pressure control in following years and end organ damage. The case suggests the need of clinical follow-up and eventual reappraisal of patients showing a condition of refractory hypertension associated with hypokalemia despite a first negative screening test.

PMID: 28293914 [PubMed - indexed for MEDLINE]

Assessment of the Aldosteronona resolution score as a predictive resolution score of hypertension after adrenalectomy for aldosteronoma in French patients.

Sat, 01/06/2018 - 19:14
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Assessment of the Aldosteronona resolution score as a predictive resolution score of hypertension after adrenalectomy for aldosteronoma in French patients.

Langenbecks Arch Surg. 2017 Mar;402(2):309-314

Authors: Pasquier L, Kirouani M, Fanget F, Nomine C, Caillard C, Arnault V, Finel JB, Christou N, Mathonnet M, Trésallet C, Hamy A, de Calan L, Brunaud L, Menegaux F, Lifante JC, Hardouin JB, Drui D, Mirallié É, Blanchard C

Abstract
PURPOSE: Aldosteronoma Resolution Score (ARS) is a predictive score for cure of hypertension after adrenalectomy for hyperaldosteronism and has been validated in American patients. The aim of the study was to validate this score in a French population.
METHOD: Data concerning patients operated from 2002 to 2015 in 7 French University Hospitals were retrospectively collected. Diagnosis of Aldosterone-producing adenoma (APA) was confirmed with clinical and biochemical hyperaldosteronism and adrenal nodule on CT scan. Adrenal venous sampling was performed when CT failed to identify laterality. ARS is based on four variables: female sex, BMI ≤25 kg/m2, duration of hypertension ≤6 years, number of antihypertensive medications ≤2. One point is attributed for the first three and 2 points for the last. Patients were considered as cured if they had no hypertension and no antihypertensive medications at least 6 months after surgery. Patients with bilateral adrenal hyperplasia were excluded.
RESULTS: This multicenter study included 310 patients with APA. ARS and follow-up were obtained in 257 patients. 46.6% of patients were cured and potassium serum level was normalized in 97.7%. In multivariate analysis, odds ratio for female sex, BMI ≤25 kg/m2, duration of hypertension ≤6 years, and number of antihypertensive medications ≤2 were 1.60 (p = 0.09), 1.77 (p = 0.04), 1.28 (p = 0.4), 3.41 (p < 0.001), respectively. Cure rate were, respectively, 22.2, 41.4 and 74% for patients with a score ARS 0-1, 2-3, 4-5. The area under the curve (AUC) of ARS was 0.715.
CONCLUSION: ARS is not a predictive score efficient enough in a French population maybe due to different metabolic data and genetic conditions.

PMID: 28111697 [PubMed - indexed for MEDLINE]

Disease Status and Pubertal Stage Predict Improved Growth in Antitumor Necrosis Factor Therapy for Pediatric Inflammatory Bowel Disease.

Sat, 01/06/2018 - 19:14
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Disease Status and Pubertal Stage Predict Improved Growth in Antitumor Necrosis Factor Therapy for Pediatric Inflammatory Bowel Disease.

J Pediatr Gastroenterol Nutr. 2017 Jan;64(1):47-55

Authors: Cameron FL, Altowati MA, Rogers P, McGrogan P, Anderson N, Bisset WM, Ahmed SF, Wilson DC, Russell RK

Abstract
BACKGROUND: Growth failure is well-recognized in pediatric inflammatory bowel disease (PIBD; <18 years). We aimed to examine whether antitumor necrosis factor (TNF) therapy improves growth in a PIBD population-based cohort.
METHODS: A retrospective review of all Scottish children receiving anti-TNF (infliximab [IFX] and adalimumab [ADA]) from 2000 to 2012 was performed; height was collected at 12 months before anti-TNF (T-12), start (T0), and 12 (T+12) months after anti-TNF.
RESULTS: Ninety-three of 201 treated with IFX and 28 of 49 with ADA had satisfactory growth data; 66 had full pubertal data. Univariate analysis demonstrated early pubertal stages (Tanner 1-3 n = 44 vs T4-5 n = 22), disease remission, disease duration ≥2 years, and duration of IFX ≥12 months were associated with improved linear growth for IFX; for ADA only improvement was seen in Tanner 1-3. For IFX, Tanner 1-3 median Δ standard deviation scores for height (Ht SDS) -0.3 (-0.7, 0.2) at T0 changed to 0.04 (-0.5, 0.7) at T+12 (P < 0.001) versus -0.01 (-0.5, 0.9) at T0 in T4-5 changed to -0.01 (-0.4, 0.2) at T+12 (P > 0.05). For IFX disease duration ≥2 year, median Δ Ht SDS was -0.13 (-0.6, 0.3) at T0 then 0.07 (-0.3, 0.6) at T+12 (P < 0.001). Remission improved Δ Ht SDS (median Δ Ht SDS -0.14 [-0.6, 0.3] at T0 to 0.17 [-0.2, 0.7] at T+12 [P < 0.001]). Multiple regression analysis demonstrated corticosteroid usage at T0 predicted improved Δ Ht SDS at T+12 for IFX and ADA.
CONCLUSIONS: Anti-TNF therapy is more likely to be associated with growth improvement when used at earlier stages of puberty with remission a key growth-promoting strategy in pediatric Crohn disease.

PMID: 27657882 [PubMed - indexed for MEDLINE]

Cases of remission of psychosis following resection of pheochromocytoma or paraganglioma.

Sat, 01/06/2018 - 19:14
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Cases of remission of psychosis following resection of pheochromocytoma or paraganglioma.

Schizophr Res. 2016 Oct;176(2-3):304-306

Authors: Brown JS

Abstract
The author previously proposed that schizophrenia has similar cytokine expression compared to melanoma, a neural crest cell tumor. One possible tumor model of schizophrenia includes anti-NMDA receptor encephalitis, a paraneoplastic syndrome. While examining the possible relationship of neural crest cell tumors to schizophrenia, the author found several case reports of psychosis resulting from pheochromocytomas and paragangliomas, types of neural crest cell tumors that secrete catecholamines. In most cases, surgical resection of the tumors resulted in remission of psychotic symptoms, and some remissions were associated with reduced levels of peripheral catecholamine levels. These reports suggest, first, that the differential diagnosis of psychosis with autonomic instability should include these tumors. Second, the cases raise a theoretical question as to how these tumors might cause psychosis. On one hand, the elevated peripheral catecholamines caused by these tumors generally agree with aspects of the dopamine hypothesis of schizophrenia although the mechanism of how peripheral dopamine would cause psychosis is unknown. On the other hand, these tumors could possibly secrete an unidentified antibody to a receptor similar to what is observed in anti-NMDA receptor encephalitis.

PMID: 27534680 [PubMed - indexed for MEDLINE]

HPOB, an HDAC6 inhibitor, attenuates corticosterone-induced injury in rat adrenal pheochromocytoma PC12 cells by inhibiting mitochondrial GR translocation and the intrinsic apoptosis pathway.

Sat, 01/06/2018 - 19:14
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HPOB, an HDAC6 inhibitor, attenuates corticosterone-induced injury in rat adrenal pheochromocytoma PC12 cells by inhibiting mitochondrial GR translocation and the intrinsic apoptosis pathway.

Neurochem Int. 2016 Oct;99:239-251

Authors: Li ZY, Li QZ, Chen L, Chen BD, Zhang C, Wang X, Li WP

Abstract
High levels of glucocorticoids (GCs) have been reported to damage normal hippocampal neurons, and such damage has been positively correlated with major depression (MD) and chronic stress. Our previous study showed that HDAC6 might be a potential target to regulate GC-induced glucocorticoid receptor (GR) translocation to the mitochondria and subsequent apoptosis. In the present study, we investigated the effect of HPOB, a selective HDAC6 inhibitor, on corticosterone (Cort)-induced apoptosis and explored the possible mechanism of action of HPOB in rat adrenal pheochromocytoma (PC12) cells, which possesses typical neuron features and expresses high levels of glucocorticoid receptors. We demonstrated that pre-treatment with HPOB remarkably reduced Cort-induced cytotoxicity and confirmed the anti-apoptotic effect of HPOB via the caspase-3 activity assay and H33342/PI and TUNEL double staining. Mechanistically, we demonstrated that HPOB reversed the Cort-induced elevation of GR levels in the mitochondria and blocked concomitant mitochondrial dysfunction and the intrinsic apoptosis pathway. Furthermore, HPOB was shown to attenuate expression of the multi-chaperone machinery (Hsp90-Hop-Hsp70) and cooperate with mitochondrial translocase of the outer/inner membrane (TOM/TIM) complex recruitment by triggering hyperacetylation of Hsps through HDAC6 inhibition. Considering all of these findings, the neuroprotective effect of HPOB demonstrated the crucial role of HDAC6 inhibition in reducing Cort-induced apoptosis in PC12 cells. The data further suggested that the anti-apoptotic activity of HDAC6 inhibition against the mitochondria-mediated impairment pathway might be mechanistically linked to the hyperacetylation of Hsps and consequent suppression of GR translocation to the mitochondria.

PMID: 27522966 [PubMed - indexed for MEDLINE]

Percutaneous microwave ablation of adrenal tumours under ultrasound guidance in 33 patients with 35 tumours: A single-centre experience.

Sat, 01/06/2018 - 19:14
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Percutaneous microwave ablation of adrenal tumours under ultrasound guidance in 33 patients with 35 tumours: A single-centre experience.

Int J Hyperthermia. 2016 Aug;32(5):517-23

Authors: Ren C, Liang P, Yu XL, Cheng ZG, Han ZY, Yu J

Abstract
PURPOSE: The aim of this study was to investigate the efficacy and safety of percutaneous microwave ablation (MWA) of adrenal tumours under ultrasound (US) guidance.
MATERIALS AND METHODS: A total of 33 consecutive patients with 35 tumours were enrolled. The term 'technical success' is used to indicate whether the tumour was treated according to protocol and was covered completely by the ablation zone. Technical success, local tumour progression (LTP) and complications were recorded. For seven patients with eight biochemically active tumours, biochemical markers were recorded prior to and after the ablation procedure.
RESULTS: In this study, technical success was achieved in all cases. Follow-up imaging was performed on 31 patients with 33 tumours (excluding two patients who were lost to follow-up). LTP occurred for five tumours (15.2%) at a mean of 24 months of follow-up (range 3-82 months). In the subgroup analysis of tumour size and LTP, a significant difference was noted between tumours with a diameter ≤5 cm compared with those >5 cm (p < 0.01). For seven cases of metabolically active adrenal tumours, technical success was confirmed in all patients, and LTP occurred in one case of recurrent pheochromocytoma. All patients demonstrated the normalisation of abnormal biochemical markers after ablation. No major complications were observed.
CONCLUSION: Percutaneous MWA under US guidance is effective in terms of good local control of adrenal tumours with a diameter of less than or equal to 5 cm and is capable of treating biochemically active tumours harbouring clinical syndromes.

PMID: 27145838 [PubMed - indexed for MEDLINE]

Adrenal tuberculosis masquerading as disseminated malignancy: A pitfall of (18)F-FDG PET/CT Imaging.

Sat, 01/06/2018 - 19:14
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Adrenal tuberculosis masquerading as disseminated malignancy: A pitfall of (18)F-FDG PET/CT Imaging.

Rev Esp Med Nucl Imagen Mol. 2016 Jul-Aug;35(4):257-9

Authors: Gorla AK, Gupta K, Sood A, Biswal CK, Bhansali A, Mittal BR

Abstract
Non-invasive characterization of adrenal lesions is a commonly encountered diagnostic challenge. Characteristic clinical and correlative imaging findings may assist in only arriving at a probable diagnosis. Currently, (18)F-FDG PET/CT is considered to provide the most comprehensive imaging information. We here present a case of bilateral adrenal tuberculosis that highlights the need for caution during the interpretation of (18)F-FDG PET/CT and also the need to suggest histopathological correlation.

PMID: 26853485 [PubMed - indexed for MEDLINE]

Oncocytic Adreno Cortical Tumors: Pathological Features of 16 Cases and Review of the Literature.

Sat, 12/30/2017 - 16:50
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Oncocytic Adreno Cortical Tumors: Pathological Features of 16 Cases and Review of the Literature.

J Environ Pathol Toxicol Oncol. 2017;36(3):237-244

Authors: Ertan Y, Argon A, Özdemir M, Yürekli BPS, Dökümcü Z, Makay Ö

Abstract
Oncocytic neoplasms of the adrenal gland are extremely rare tumors. These tumors differ from their nononcocytic counterparts in some respects. The aim of this study was to review and discuss the clinical, histological, and immunohistochemical features of as well as the prognosis for these rare tumors. In total, 16 cases diagnosed as adrenocortical oncocytic neoplasms between January 2011 and December 2016 were included in the study. The demographic data, gross characteristics, histological data, and immunohistochemical data (Chromogranin-A, Synaptophysin, α-Inhibin, Melan-A, Ki67, PHH3) were reevaluated. The follow-up data for these patients were added in January 2017. Of the 16 cases, 12 were adrenocortical adenoma, 1 was borderline adrenocortical tumor, and 3 were adrenocortical carcinoma. The tumors equally affected both genders. The tumors were not generally large. Tumor cells had pleomorphic nuclei in ten cases, but it was more obvious in one case. The mitotic figure count was low in most tumors. Atypical mitosis and necrosis were observed in three and four tumors, respectively. None of cases included sinusoidal invasion, vascular invasion, or capsular invasion. We detected the expression of at least one specific marker (e.g., Melan-A, Inhibin-α) of the adrenal cortex in all tumors. None of the tumors were immunoreactive for Chromogranin-A. Ki-67 proliferation index was lower than 5% in all cases except three oncocytic carcinomas. In two cases, PHH3 positivity was not seen, while it was lower than 3 of 10 high-powered fields in ten cases and higher in 4 cases. All patients were alive and disease free except for two patients with adrenocortical carcinoma. In conclusion, determining the clinical, histological, and immunohistochemical characteristics of these extremely rare tumors can provide important information for early diagnosis, treatment, and follow-up of these cases.

PMID: 29283337 [PubMed - in process]

Identification of a novel lncRNA induced by the nephrotoxin ochratoxin A and expressed in human renal tumor tissue.

Sat, 12/30/2017 - 16:50
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Identification of a novel lncRNA induced by the nephrotoxin ochratoxin A and expressed in human renal tumor tissue.

Cell Mol Life Sci. 2017 Dec 27;:

Authors: Polovic M, Dittmar S, Hennemeier I, Humpf HU, Seliger B, Fornara P, Theil G, Azinovic P, Nolze A, Köhn M, Schwerdt G, Gekle M

Abstract
Long non-coding RNAs represent a fraction of the transcriptome that is being increasingly recognized. For most of them no function has been allocated so far. Here, we describe the nature and function of a novel non-protein-coding transcript, named WISP1-AS1, discovered in human renal proximal tubule cells exposed to the carcinogenic nephrotoxin ochratoxin A. WISP1-AS1 overlaps parts of the fourth intron and fifth exon of the Wnt1-inducible signaling pathway protein 1 (WISP1) gene. The transcript is 2922 nucleotides long, transcribed in antisense direction and predominantly localized in the nucleus. WISP1-AS1 is expressed in all 20 samples of a human tissue RNA panel with the highest expression levels detected in uterus, kidney and adrenal gland. Its expression was confirmed in primary tissues of human kidneys. In addition, WISP1-AS1 is expressed at higher levels in renal cell carcinoma (RCC) cell lines compared to primary proximal tubule cells as well as in RCC lesions than in the adjacent healthy control tissue from the same patient. Using specific gapmer antisense oligonucleotides to prevent its upregulation, we show that WISP1-AS1 (1) does not influence the mRNA expression of WISP1, (2) affects transcriptional regulation by Egr-1 and E2F as revealed by RNA-sequencing, enrichment analysis and reporter assays, and (3) modulates the apoptosis-necrosis balance. In summary, WISP1-AS1 is a novel lncRNA with modulatory transcriptional function and the potential to alter the cellular phenotype in situations of stress or oncogenic transformation. However, its precise mode of action and impact on cellular functions require further investigations.

PMID: 29282485 [PubMed - as supplied by publisher]

A Rare Differential Diagnosis of an Adrenal Mass: A Case Report.

Sat, 12/30/2017 - 16:50
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A Rare Differential Diagnosis of an Adrenal Mass: A Case Report.

Case Rep Oncol. 2017 Sep-Dec;10(3):981-986

Authors: Seidel AK, Pless M, Michel C, Soll C, Hochuli C, Gubler J

Abstract
Ten years after his last treatment for diffuse large B-cell lymphoma, a seemingly healthy, 64-year-old man presented for his lymphoma-related follow-up. Ultrasound revealed an impressive tumor in the right adrenal gland. Due to recurrent cancer therapies in the past, this seemed highly suspicious of a second malignancy, such as primary adrenal carcinoma. Surprisingly, histology disclosed a very different but rare cause for this pseudotumorous lesion.

PMID: 29279702 [PubMed]

Giant Cavernous Hemangioma of the Adrenal Gland in an Elderly Patient.

Sat, 12/30/2017 - 16:50
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Giant Cavernous Hemangioma of the Adrenal Gland in an Elderly Patient.

Intern Med. 2017 Dec 27;:

Authors: Hashimoto A, Yoshino H, Yoshikawa F, Kumashiro N, Ando Y, Yamabe F, Akishima-Fukasawa Y, Honma N, Uchino H, Hirose T

Abstract
Cavernous hemangioma is a rare, non-functional, benign adrenal tumor. Adrenal cavernous hemangioma is often diagnosed after surgery with a histologic examination. A 70-year-old man complaining of appetite loss was admitted to our hospital. An incidental large left adrenal mass was found by computed tomography (CT). There were no clinical signs of adrenogenital syndrome, Cushing's syndrome or primary aldosteronism. Total resection was carried out. The pathological diagnosis was cavernous hemangioma. The differentiation of adrenal tumor is necessary in cases of large tumors, and resection is desirable given the risks of hemorrhaging and rupture.

PMID: 29279502 [PubMed - as supplied by publisher]

Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.

Sat, 12/30/2017 - 16:50
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Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.

Endocr J. 2017 Dec 27;:

Authors: Zhang Q, Cui L, Gao JP, Yan WH, Jin N, Chen K, Zang L, Du J, Wang XL, Guo QH, Yang GQ, Yang LJ, Ba JM, Gu WJ, Lv ZH, Dou JT, Mu YM, Lu JM

Abstract
Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. It accounts for <1% of all endogenous cases of CS. In order toidentify the pathogenic mutations in the causative gene of (AIMAH pedigrees, Whole-genome sequencing of three patients in family I was used to retrieve candidate causative genes. Meanwhile, the causative gene was identified by Sanger sequencing from the two pedigrees. Sequencing of ARMC5 exons of three patients was carried out to identify somatic mutations. Moreover, haploid clone of one tumor DNA sample was conducted. ARMC5 was the causative gene of two pedigrees confirmed by whole-genome sequencing (WGA) and Sanger sequencing. The variant sites of the two families were c.C943T (p.R315W) and c.C1960T (p.R654X), respectively. Autosomal dominant inheritance of AIMAH was confirmed by genotypes of one family member. Several somatic mutations were discovered in tumor DNA samples. In addition, haploid clone of tumor DNA was confirmed by germline mutation and somaticmutation, which suggested the pathogenic mechanism of "two-hit-model." ARMC5 was the causative gene of AIMAH pedigrees. This AIMAH in this study presented autosomal dominant inheritance, fitting to Mendelian inheritance law. However, the pathogenic mode of this disease showed as compound heterozygote.

PMID: 29279458 [PubMed - as supplied by publisher]

A pheochromocytoma case diagnosed as adrenal incidentaloma.

Sat, 12/30/2017 - 16:50
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A pheochromocytoma case diagnosed as adrenal incidentaloma.

Turk J Pediatr. 2017;59(2):200-206

Authors: Vurallı D, Kandemir N, Clark G, Orhan D, Alikaşifoğlu A, Gönç N, Ekinci S, Özön A

Abstract
Vurallı D, Kandemir N, Clark G, Orhan D, Alikaşifoğlu A, Gönç N, Ekinci S, Özön A. A pheochromocytoma case diagnosed as adrenal incidentaloma. Turk J Pediatr 2017; 59: 200-206. There are two problems that needs to be addressed in cases of an adrenal incidentaloma. The first is to decide whether the adrenal mass is benign or malignant, and the second is to determine whether the mass is hormonally active or not. A 17-year-old male was admitted with the complaint of progressive weight gain. Abdominal ultrasonography was performed for elevation in transaminases which revealed a hypoechoic mass located in the left adrenal gland. Hormonal investigations revealed an increase in fractionated catecholamine and metanephrine levels in 24-hour urine. Surgery was performed and pathological examination was in accordance with pheochromocytoma. Mutation analysis was carried out. This is a rare case of pheochromocytoma presenting as adrenal incidentaloma during adolescence. In view of this case, we review the approach to incidentally discovered adrenal masses and the approach to pheochromocytoma. A mutation analysis should be performed on all cases with pheochromocytoma that are diagnosed below age 20.

PMID: 29276876 [PubMed - in process]

[Diagnostic value of urinary free cortisol in the subclinical Cushing's syndrome in patients with adrenal incidentaloma].

Sat, 12/30/2017 - 16:50
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[Diagnostic value of urinary free cortisol in the subclinical Cushing's syndrome in patients with adrenal incidentaloma].

Zhonghua Yi Xue Za Zhi. 2017 Dec 12;97(46):3632-3635

Authors: Li LL, Zhao L, Dou JT, Yang GQ, Gu WJ, Lü ZH, Ba JM, Mu YM

Abstract
Objective: To evaluate the efficacy of 24 h urinary free cortisol (24 h UFC) in the diagnosis of subclinical Cushing's syndrome (SCS), and explore the best diagnostic cut-off value. Methods: The clinical data of patients with adrenal incidentaloma in Chinese PLA General Hospital between January 2008 and December 2016 was retrospectively reviewed and analyzed. All SCS patients were diagnosed based on the current Cushing's syndrome (CS) guidelines and confirmed by histopathology and then treated as study group, and additional patients with non-functional adrenal adenoma (NFA) were enrolled as control group. ROC curve was used to evaluate efficacy of 24 h UFC and 24 h UFC to creatinine ratio (UFCCR), and explore their best cut-off values. Results: There were 161 patients with NFA, of which contained 84 males and 77 females, with a mean age of (51.02±10.49) years old. There were 88 patients with SCS, of which contained 26 males and 62 females, with a mean age of (51.74±10.29) years old. The 24 h UFC and UFCCR levels were significant higher in SCS group than those in NFA group[510 (363, 698) nmol vs 335 (209, 467) nmol for 24 h UFC, and 7.82(4.79, 12.13) ml vs 4.82(2.41, 6.57)ml for UFCCR, both P<0.05]. ROC analysis showed that the optimal cut-off for 24 h UFC was 480 nmol (AUC 0.716, 95% CI: 0.648-0.784, with a sensitivity of 58.0% and a specificity of 79.4%) and the optimal cut-off for UFCCR was 6.84 ml (AUC 0.729, 95% CI: 0.662-0.796, with a sensitivity of 59.1% and a specificity of 78.7%). Conclusions: The recommended cut-off points of 24 h UFC and UFCCR for diagnosing SCS in AI patients were 480 nmol and 6.84 ml, respectively.

PMID: 29275606 [PubMed - in process]

Graphene oxide and reduced graphene oxide induced neural pheochromocytoma-derived PC12 cell lines apoptosis and cell cycle alterations via the ERK signaling pathways.

Sat, 12/30/2017 - 16:50
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Graphene oxide and reduced graphene oxide induced neural pheochromocytoma-derived PC12 cell lines apoptosis and cell cycle alterations via the ERK signaling pathways.

Int J Nanomedicine. 2017;12:5501-5510

Authors: Kang Y, Liu J, Wu J, Yin Q, Liang H, Chen A, Shao L

Abstract
Given the novel applications of graphene materials in biomedical and electronics industry, the health hazards of these particles have attracted extensive worldwide attention. Although many studies have been performed on graphene material-induced toxic effects, toxicological data for the effect of graphene materials on the nervous system are lacking. In this study, we focused on the biological effects of graphene oxide (GO) and reduced graphene oxide (rGO) materials on PC12 cells, a type of traditional neural cell line. We found that GO and rGO exerted significant toxic effects on PC12 cells in a dose- and time-dependent manner. Moreover, apoptosis appeared to be a response to toxicity. A potent increase in the number of PC12 cells at G0/G1 phase after GO and rGO exposure was detected by cell cycle analysis. We found that phosphorylation levels of ERK signaling molecules, which are related to cell cycle regulation and apoptosis, were significantly altered after GO and rGO exposure. In conclusion, our results show that GO has more potent toxic effects than rGO and that apoptosis and cell cycle arrest are the main toxicity responses to GO and rGO treatments, which are likely due to ERK pathway regulation.

PMID: 28814866 [PubMed - indexed for MEDLINE]

ACCURACY OF PLASMA FREE METANEPHRINES IN THE DIAGNOSIS OF PHEOCHROMOCYTOMA AND PARAGANGLIOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS.

Sat, 12/30/2017 - 16:50
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ACCURACY OF PLASMA FREE METANEPHRINES IN THE DIAGNOSIS OF PHEOCHROMOCYTOMA AND PARAGANGLIOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS.

Endocr Pract. 2017 Oct;23(10):1169-1177

Authors: Chen Y, Xiao H, Zhou X, Huang X, Li Y, Xiao H, Cao X

Abstract
OBJECTIVE: Various studies have validated plasma free metanephrines (MNs) as biomarkers for pheochromocytoma and paraganglioma (PPGL). This meta-analysis aimed to estimate the overall diagnostic accuracy of this biochemical test for PPGL.
METHODS: We searched the PubMed, the Cochrane Library, Web of Science, Embase, Scopus, OvidSP, and ProQuest Dissertations & Theses databases from January 1, 1995 to December 2, 2016 and selected studies written in English that assessed plasma free MNs in the diagnosis of PPGL. Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) was used to evaluate the quality of the included studies. We calculated pooled sensitivities, specificities, positive and negative likelihood ratios, diagnostic odds ratios (DORs) and areas under curve (AUCs) with their 95% confidence intervals (95% CIs). Heterogeneity was assessed by I2. To identify the source of heterogeneity, we evaluated the threshold effect and performed a meta-regression. Deeks' funnel plot was selected for investigating any potential publication bias.
RESULTS: Although the combination of metanephrine (MN) and normetanephrine (NMN) carried lower specificity (0.94, 95% CI 0.90-0.97) than NMN (0.97, 95% CI 0.92-0.99), NMN was generally more accurate than individual tests, with the highest AUC (0.99, 95% CI 0.97-0.99), DOR (443.35, 95% CI 216.9-906.23), and pooled sensitivity (0.97, 95% CI 0.94-0.98) values. Threshold effect and meta-regression analyses showed that different cut-offs, blood sampling positions, study types and test methods contributed to heterogeneity.
CONCLUSION: This meta-analysis suggested an effective value for combined plasma free MNs for the diagnosis of PPGL, but testing for MNs requires more standardization using tightly regulated studies.
ABBREVIATIONS: AUC = area under curve; CI = confidence interval; DOR = diagnostic odds ratio; EIA = enzyme immunoassay; LC-ECD = liquid chromatography-electrochemical detection; LC-MS/MS = liquid chromatography-tandem mass spectrometry; MN = metanephrine; NMN = normetaneprhine; PPGL = pheochromocytoma and paraganglioma; QUADAS-2 = Quality Assessment of Diagnostic Accuracy Studies 2.

PMID: 28704098 [PubMed - indexed for MEDLINE]

TAKOTSUBO-LIKE CARDIOMYOPATHY IN A LARGE COHORT OF PATIENTS WITH PHEOCHROMOCYTOMA AND PARAGANGLIOMA.

Sat, 12/30/2017 - 16:50
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TAKOTSUBO-LIKE CARDIOMYOPATHY IN A LARGE COHORT OF PATIENTS WITH PHEOCHROMOCYTOMA AND PARAGANGLIOMA.

Endocr Pract. 2017 Oct;23(10):1178-1192

Authors: Gagnon N, Mansour S, Bitton Y, Bourdeau I

Abstract
OBJECTIVE: Pheochromocytoma (PHEO) and paraganglioma (PGL) (PPGL) may cause acute Takotsubo-like catecholamine cardiomyopathy (TLC). The objective of this study was to determine the prevalence and clinical presentation of TLC in a large cohort of patients with PPGL.
METHODS: We reviewed retrospectively the records of consecutive patients with PPGL investigated in our center from 1995 to 2016. We collected clinical and paraclinical data of patients that had TLC in this cohort. We performed a literature review of cases of Takotsubo cardiomyopathy related to PPGL described between 1990 and 2015.
RESULTS: Our cohort included 275 patients with PPGL. Acute TLC was found in 4 of 152 (2.6%) patients with secreting PPGL. There was no event recorded in 123 patients with unknown presurgical secretion (n = 51) or nonsecreting PPGL (n = 72). Four patients (44 to 79 years old) fulfilled the criteria for TLC, including 2 PHEO and 2 PGL patients. A precipitating stressor event was identified in 3 cases including surgery (n = 2) and upper respiratory tract infection. In all cases, the diagnosis of PPGL came after the cardiac event and following the investigation of a lesion incidentally found at imaging. Moreover, we identified in the literature 59 cases described in the last 25 years and analyzed this cohort together with our 4 new cases.
CONCLUSION: Acute TLC may be found in up to 3% of patients with secreting PPGL. Considering that the diagnosis of PPGL was performed following incidental finding of radiologic mass, the real prevalence of PPGL in TTC remains to be determined.
ABBREVIATIONS: ECG = electrocardiogram; LVEF = left ventricular ejection fraction; MIBG = metaiodobenzylguanidine; PGL = paraganglioma; PHEO = pheochromocytoma; PPGL = pheochromocytoma and paraganglioma; TLC = Takotsubo-like cardiomyopathy; TTC = Takotsubo cardiomyopathy; ULN = upper limit of normal.

PMID: 28704094 [PubMed - indexed for MEDLINE]

Lactic acidosis as an infrequent manifestation of a pheocromocytoma.

Sat, 12/30/2017 - 16:50
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Lactic acidosis as an infrequent manifestation of a pheocromocytoma.

Med Clin (Barc). 2017 01 20;148(2):96-97

Authors: Hernando Jiménez V, Oliva Rodríguez R, Tous Romero MD

PMID: 27894603 [PubMed - indexed for MEDLINE]

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