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Seasonal variation in plasma free normetanephrine concentrations: implications for biochemical diagnosis of pheochromocytoma.

Wed, 04/02/2014 - 01:51
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Seasonal variation in plasma free normetanephrine concentrations: implications for biochemical diagnosis of pheochromocytoma.

Eur J Endocrinol. 2014 Mar;170(3):349-57

Authors: Pamporaki C, Bursztyn M, Reimann M, Ziemssen T, Bornstein SR, Sweep FC, Timmers H, Lenders JW, Eisenhofer G

Abstract
BACKGROUND: Higher plasma concentrations of catecholamines in winter than in summer have been established, but whether this impacts the plasma concentrations of metanephrines used for the diagnosis of pheochromocytoma is unknown.
OBJECTIVE: In this study, we examined seasonal variations in the plasma concentrations of metanephrines, the impact of this on diagnostic test performance and the influences of forearm warming ('arterialization' of venous blood) on blood flow and measured concentrations.
METHODS: The measurements of the plasma concentrations of metanephrines were recorded from 4052 patients tested for pheochromocytoma at two clinical centers. Among these patients, 107 had tumors. An additional 26 volunteers were enrolled for the measurements of plasma metanephrines and forearm blood flow before and after forearm warming.
RESULTS: There was no seasonal variation in the plasma concentrations of metanephrines among patients with pheochromocytoma, whereas among those without tumors, the plasma concentrations of normetanephrine were higher (P<0.0001) in winter than in summer. Lowest concentrations of normetanephrine were measured in July, with those recorded from December to April being more than 21% higher (P<0.0001). These differences resulted in a twofold higher (P=0.0012) prevalence of false-positive elevations of normetanephrine concentrations in winter than in summer, associated with a drop in overall diagnostic specificity from 96% in summer to 92% in winter (P=0.0010). Forearm warming increased blood flow and lowered (P=0.0020) plasma normetanephrine concentrations.
CONCLUSIONS: The plasma concentrations of normetanephrine are subject to seasonal variation with a resulting higher prevalence of false-positive results in winter than in summer. Lowered plasma concentrations of normetanephrine with forearm warming suggest an effect of temperature. These results have implications for considerations of temperature to minimize false-positive results.

PMID: 24497497 [PubMed - indexed for MEDLINE]

A novel mutation (P236S) in the succinate dehydrogenase subunit B gene in a Japanese patient with a posterior mediastinal paraganglioma.

Wed, 04/02/2014 - 01:51
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A novel mutation (P236S) in the succinate dehydrogenase subunit B gene in a Japanese patient with a posterior mediastinal paraganglioma.

Endocr Pathol. 2013 Sep;24(3):144-8

Authors: Sato H, Shoji S, Kajiwara H, Itoh J, Osamura RY

Abstract
Succinate dehydrogenase subunit B gene (SDHB) is associated with the development of hereditary paraganglioma (PGL) and pheochromocytoma (PCC). Here we describe a novel germline mutation in SDHB in a 69-year-old Japanese woman with a posterior mediastinal PGL. We summarize the clinical presentation, diagnostic work-up, and pathological features of a patient with a posterior mediastinal PGL and review the pertinent literature. Direct sequencing of SDHB and SDHD was performed. The patient presented with a posterior mediastinal tumor and was normotensive. She underwent abdominal tumor resection at the age of 38 years, but clinical and pathological diagnoses were unknown. She had no family history of hypertension, PGL, or PCC. Imaging studies suggested that the tumor was neurogenic. Endocrinological examinations showed normal plasma catecholamine levels. The tumor was completely removed without metastasis. Pathological findings confirmed PGL. Immunohistochemical staining showed that the tumor cells were positive for chromogranin A, synaptophysin, and CD56, and the Ki67 index was low (<1 %). The patient has not experienced recurrence or metastasis for the last 5 years. DNA sequencing revealed a novel P236S (c.843 C > T) mutation in SDHB. The P236S germline mutation in SDHB was associated with posterior mediastinal PGL. Strict follow-up of the patient is necessary because the SDHB mutation may be related to malignancy.

PMID: 23780556 [PubMed - indexed for MEDLINE]

Proposed diagnostic criteria for subclinical Cushing's syndrome associated with adrenal incidentaloma.

Wed, 04/02/2014 - 01:51
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Proposed diagnostic criteria for subclinical Cushing's syndrome associated with adrenal incidentaloma.

Endocr J. 2013;60(7):903-12

Authors: Akehi Y, Kawate H, Murase K, Nagaishi R, Nomiyama T, Nomura M, Takayanagi R, Yanase T

Abstract
Subclinical Cushing's syndrome (SCS) associated with adrenal incidentaloma is usually characterized by autonomous cortisol secretion without overt symptoms of Cushing's syndrome (CS). Although the diagnostic criteria for SCS differ among countries, the 1 mg dexamethasone suppression test (DST) is essential to confirm the presence and the extent of cortisol overproduction. Since 1995, SCS has been diagnosed in Japan based on serum cortisol levels ≥3 μg/dL (measured by radioimmunoassay [RIA]) after a 1 mg DST. However, the increasing use of enzyme immunoassays (EIA) instead of RIA has hindered the diagnosis of SCS because of the differing sensitivities of commercially available assays, particularly for serum cortisol levels of around 3 μg/dL. One way to overcome this problem is to lower the cortisol threshold level after a 1 mg DST. In the present study, we examined the clinical applicability of lowering the cortisol threshold to 1.8 μg/dL, similar to the American Endocrine Society's guidelines for CS, by reanalyzing 119 patients with adrenal incidentaloma. Our findings indicate that serum cortisol levels ≥1.8 μg/dL after 1 mg DST are useful to confirm the diagnosis of SCS if both of the following criteria are met: (1) basal ACTH level <10 pg/mL (or poor plasma ACTH response to corticotrophin-releasing hormone) and (2) serum cortisol ≥5 μg/dL at 21:00 to 23:00 h. If only one of (1) and (2) are met, we recommend that other clinical features are considered in the diagnosis of SCS, including serum dehydroepiandrosterone sulfate levels, urine free cortisol levels, adrenal scintigraphy, and clinical manifestation.

PMID: 23574729 [PubMed - indexed for MEDLINE]

Everolimus therapy for progressive adrenocortical cancer.

Wed, 04/02/2014 - 01:51
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Everolimus therapy for progressive adrenocortical cancer.

Endocrine. 2013 Aug;44(1):187-92

Authors: Fraenkel M, Gueorguiev M, Barak D, Salmon A, Grossman AB, Gross DJ

Abstract
Patients with advanced adrenocortical carcinoma (ACC) have limited treatment options after failure of chemotherapy. Tumor IGF2 expression has been shown to be amplified in the majority of cases of ACC and autocrine/paracrine activation of the IGF receptor (IGF-R) is thought to play a major role in the pathogenesis of ACC. It has been shown in vitro that inhibition of the IGF-R inhibits ACC cell proliferation. mTOR is a downstream effector of the IGFR signaling pathway; therefore, the rapamycin analog everolimus could prove to be useful for treatment of patients with ACC. Four women with ACC (ages 25-60 years) developed stage IV disease after surgery. All had progressive disease (PD) despite treatment with mitotane and other treatment modalities (etoposide, doxorubicin, cis-platinum in 3/4 patients, further streptozotocin + 5-FU in 1/4 patients, further thalidomide therapy in 2/4 patients; 1 patient progressed on an IGF-R antagonist). The patients were started on everolimus 10 mg/day orally and 2/4 patients also continued mitotane. Disease progression was monitored monthly by CT in 3/4 and after 3 months in 1/4. In all patients everolimus was well tolerated. In the three patients monitored monthly, PD was evident after 1, 3, and 4 months; in the patient evaluated after 3 months PD was also evident. In this small exploratory study, no clinically meaningful response was observed with everolimus in four patients with advanced ACC. The failure of efficacy could be related to an interaction with mitotane, multiple signaling pathways, and/or other downstream IGF-R effectors operative in the pathogenesis of ACC.

PMID: 23417626 [PubMed - indexed for MEDLINE]

Patient-reported impacts of a conservative management programme for the clinically inapparent adrenal mass.

Wed, 04/02/2014 - 01:51
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Patient-reported impacts of a conservative management programme for the clinically inapparent adrenal mass.

Endocrine. 2013 Aug;44(1):228-36

Authors: Muth A, Taft C, Hammarstedt L, Björneld L, Hellström M, Wängberg B

Abstract
The aim of this study was to assess patient-reported impacts and health-related quality of life (HRQL) of a 2-year follow-up programme in a large cohort of patients with stationary, non-functioning, adrenal incidentalomas (AIs) in western Sweden. 145 patients (mean age 68 years, 62 % females) with AI from a prospective study in western Sweden were studied. All had completed a 2-year follow-up programme by November 2007, without evidence of adrenal malignancy or hormone over-production. To evaluate patient-reported impacts and HRQL, an eight-item adrenal incidentaloma impact questionnaire was used retrospectively, together with the hospital anxiety and depression scale, and the short form-36. There were 111 patients (mean age 67 years, 63 % females) who responded to the questionnaire (response rate 77 %). 77 % reported that the AI diagnosis had caused them to be worried; however, fewer than 20 % had thought about the lesion often during the follow-up programme, and only 3 % had felt that it had a large impact on their current daily life. Only 4 % stated that the follow-up programme had been a negative experience, nevertheless 10 % reported a negative impact on their HRQL during the follow-up programme. Only 2 % stated that release from follow-up caused worry to any degree. In total, 29 % had possible anxiety, and 30 % had possible depression, probably reflecting significant co-morbidity. Possible anxiety correlated with a more negative experience of the follow-up programme. In conclusion, the 2-year follow-up programme for patients with AI was well tolerated. Nonetheless, a small number remained worried throughout follow-up, suggesting the need for tailored counselling in individual patients to ameliorate negative impacts of follow-up.

PMID: 23250632 [PubMed - indexed for MEDLINE]

Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma.

Wed, 03/26/2014 - 00:26
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Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma.

Endocr Relat Cancer. 2014 Mar 21;

Authors: Kimura N, Takekoshi K, Horii A, Morimoto R, Imai T, Oki Y, Saito T, Midorikawa S, Arao T, Sugisawa C, Yamada M, Otsuka Y, Kurihara I, Sugano K, Nakane M, Fukuuchi A, Kitamoto T, Saito J, Nishikawa T, Naruse M

Abstract
Dear Editor,Pheochromocytoma (PCC) and paraganglioma (PGL) are genetically and phenotypically heterogeneous catecholamine producing neoplasms. They can occur sporadically or as a part of hereditary disease. Approximately 30% of PCC /PGL are believed to be caused by germline mutations (Welander et al. 2011). Of these, succinate dehydrogenase subunit B (SDHB) gene mutation is considered a high-risk factor for malignancy. Loss of heterozygosity at the SDHB locus (1p36) was observed in all tumors with SDHB mutation, and Gimenez-Roqueplo et al. (2003) strongly suggested that SDHB is a tumor suppressor gene. Subsequently, loss of SDHB protein immunoreactivity in SDHB-mutated PCC/PGL (SDHB-PCC/PGL) was reported with 100% sensitivity and 84% specificity (van Nederveen et al. 2009). Thus, SDHB immunohistochemistry can be used to screen SDHB-PCC/PGL using paraffin-embedded pathological materials. SDHB mutation is the only established factor that indicates future metastasis. Therefore, it is important to analyze the histological characteristics of SDHB-PCC/PGL.It is generally accepted that it is difficult to distinguish histological differences between benign and malignant PCC/ PGL. The current consensus is that a long-term follow-up is required after the surgery to screen for recurrence or metastasis in all PCC/PGL patients, regardless whether hereditary or sporadic in origin. Kimura et al. (2014) proposed a histological grading system called the GAPP (Grading of Adrenal Pheochromocytoma and Paraganglioma) classification for predicting metastasis. GAPP is composed of six factors: histological pattern, cellularity, presence or absence of comedo-type necrosis, vascular or capsular invasion, Ki67 labeling index (%), and elevated catecholamine type. Each factor was assigned a point and the number of points was summated.

PMID: 24659481 [PubMed - as supplied by publisher]

[Cushing syndrome: When to suspect and how to confirm?]

Wed, 03/26/2014 - 00:26
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[Cushing syndrome: When to suspect and how to confirm?]

Presse Med. 2014 Mar 19;

Authors: Guignat L, Bertherat J

Abstract
Cushing's syndrome includes all the clinical manifestations induced by chronic glucocorticoid excess. The endogenous Cushing's syndrome is rare, but its prevalence, although difficult to define, is much higher in populations at risk. Data suggest that early and effective management would reduce morbidity and mortality after correction of hypercortisolism. It is not recommended to widespread test for Cushing's syndrome but targeted screening is indicated especially in the following indications: facio-troncular obesity, hypercatabolism signs, pituitary and adrenal tumor. In case of potential but less specific manifestation of Cushing's syndrome (diabetes, hypertension, osteoporosis, hypogonadism…), but unusual for age, familial background, or severity, particular attention will be paid to the clinical examination to search for signs of modest hypercortisolism which may justify screening. The positive diagnosis of Cushing's syndrome is based on two stages approach with the first tests simple and sensitive, and the second tests more specific, with investigations to determine the cause following a positive diagnosis.

PMID: 24656297 [PubMed - as supplied by publisher]

Incidental Renal Cell Carcinoma Originating From a Native Kidney After En-bloc Resection for Adrenal Carcinoma in a Kidney Transplant Recipient.

Wed, 03/26/2014 - 00:26
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Incidental Renal Cell Carcinoma Originating From a Native Kidney After En-bloc Resection for Adrenal Carcinoma in a Kidney Transplant Recipient.

Transplant Proc. 2014 Mar;46(2):637-9

Authors: Park P, Kim WY, Lee JB, Choi SB, Kim WB, Choi SY

Abstract
BACKGROUND: Renal transplantation is the best treatment for patients with end-stage renal disease. Although there is significantly increased risk of malignancy after renal transplantation, carcinoma of the native kidney is very rare, and moreover, the risk of endocrinologic malignancy after renal transplantation is lower than in the general population and adrenal cortical carcinoma extremely rare. We report a case of incidental renal cell carcinoma originating from a native kidney after en-bloc resection for adrenal carcinoma in a kidney transplant recipient.
CASE REPORT: A 57 year-old male patient had undergone living-donor kidney transplantation for chronic renal failure from hypertension 15 years earlier and had a right adrenal tumor diagnosed on surveillance abdomen-pelvis computerized tomography. Based on 24-hour catecholamine laboratory findings, nonfunctioning tumor was suspected. The planned en-bloc resection of right adrenal gland and right native kidney combining the perirenal tissue and Gerota fascia was performed, because the tumor was suspicious for malignancy and could possibly invade the perirenal tissue or right kidney. On the final pathology, combined adrenal cortical carcinoma and incidental renal cell carcinoma was confirmed. Renal cell carcinoma was papillary, type I, and stage T1N0M0. Adrenal cortical carcinoma was 7.6 × 6.5 cm in size, had marked nuclear atypia, and was grade IV/IV. Mitotic counts were >10 per high-power field, but it had no capsular invasion or vascular invasion, and free resection margin was confirmed. In the preoperative period, he had taken immunosuppressants FK506 and mycophenolate sodium, but after combined carcinomas were confirmed, the regimen of combination of immunosuppressants was changed to sirolimus with low-dose FK506 and half-dose mycophenolate sodium.

PMID: 24656033 [PubMed - in process]

Adrenal angiomyolipoma.

Wed, 03/26/2014 - 00:26
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Adrenal angiomyolipoma.

J Coll Physicians Surg Pak. 2013 Sep;23(9):663-4

Authors: Hafeez Bhatti AB, Dar FS, Pervez M

Abstract
Adrenal angiomyolipoma is a rare tumour arising from the mesenchymal tissue containing fat cells. A 72 years old lady presented with right upper quadrant pain. She underwent laparotomy after relevant imaging and investigations and was found to have a right sided adrenal angiomyolipoma confirmed on histopathology, which was encasing the inferior vena cava and renal veins. Due to its diagnostic difficulty, potential to achieve large size and possible complications; surgeons and pathologists should keep angiomyolipoma in mind when dealing with an adrenal mass.

PMID: 24034195 [PubMed - indexed for MEDLINE]

Autoimmune associations and autoantibody screening show focused recognition in patient subgroups with generalized myasthenia gravis.

Wed, 03/26/2014 - 00:26
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Autoimmune associations and autoantibody screening show focused recognition in patient subgroups with generalized myasthenia gravis.

Hum Immunol. 2013 Sep;74(9):1184-93

Authors: Klein R, Marx A, Ströbel P, Schalke B, Nix W, Willcox N

Abstract
Autoimmune associations in myasthenia gravis (MG)-patients and their relatives have not been re-assessed since their separation into early- or late-onset MG (EOMG, LOMG), or thymoma-associated MG. Here, we analysed 226 EOMG-, 97 LOMG-, and 150 thymoma-patients for autoimmune disorders in themselves and their relatives. From 283 of them sera were tested for different organ- and non-organ-specific autoantibodies (autoAbs) by immunofluorescence test (IFT) and ELISA; genotyping was performed in 213 patients. Relatives with autoimmune disorders were reported by more patients with EOMG (40% of 210) than LOMG (20% of 89; p < 0.01) than thymomas (8% of 150; p < 0.001). In 150 genotyped EOMG-females, the known risk allele of the immuno-regulatory PTPN2 2 (R620W) appeared commoner in those with second autoimmune diseases (p ∼ 0.06), or with autoimmune relatives (p ∼ 0.03), than in those without. Organ-specific autoAbs were found in ∼ 30% of all MG-patients, autoAbs to striated muscle only in patients with thymoma-MG (62%) or LOMG (61%). Titers against adrenal cortex were lower in LOMG-patients. Disease-associated autoAbs against systemic targets or 'natural autoAbs' - except of autoAbs to nuclei - were uncommon in all groups (< 13%). Thus-with rare exceptions in EOMG and LOMG-we found minimal support for the notion that autoimmune patients have wide-ranging autoreactivity that causes disease only if it targets such Achilles' heels as the muscle acetylcholine receptor; even in thymoma-patients the autoAbs are sharply focused on a restricted range of muscle, cytokine and endocrine targets.

PMID: 23792059 [PubMed - indexed for MEDLINE]

Severe Guillain-Barré syndrome in a patient receiving anti-TNF therapy. Consequence or coincidence. A case-based review.

Wed, 03/26/2014 - 00:26
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Severe Guillain-Barré syndrome in a patient receiving anti-TNF therapy. Consequence or coincidence. A case-based review.

Clin Rheumatol. 2013 Sep;32(9):1407-12

Authors: Alvarez-Lario B, Prieto-Tejedo R, Colazo-Burlato M, Macarrón-Vicente J

Abstract
The adverse effects of anti-tumour necrosis factor alpha (TNFα) drugs include an increase in the risk of infections, congestive heart failure, lupus-like syndrome, and the onset or worsening of various demyelinating diseases such as, multiple sclerosis, optic neuritis, and Guillain-Barrè syndrome (GBS), among others. We describe the case of a patient who developed GBS while she was on treatment with adalimumab. A 50-year-old woman with rheumatoid arthritis (RA) was admitted to the hospital due to progressive severe bilateral symmetric weakness of the legs, which quickly extended to the upper limbs and to the respiratory muscles. Adalimumab was started 13 months before. GBS was diagnosed and the anti-TNFα therapy discontinued. The serological test for Campylobacter jejuni was positive. She required invasive mechanical ventilatory support for 9 months. Twelve months later, the patient was using a wheelchair following a rehabilitation programme, and at 24 months she was walking a few steps with assistive devices. The relevant literature on the relationship between GBS and anti-TNFα is reviewed. Twenty three cases of GBS occurring during anti-TNFα therapy have been reported so far in the literature. In several cases, there was no clear temporal association, more than half had a possible previous infection, and in two cases the drug was reintroduced without recurrence of GBS. Our case, which is best explained by C. jejuni infection, as well as some of the cases described are probably not a direct result of anti-TNFα treatment, but an accidental coincidence. We also discuss the potential therapeutic options after anti-TNFα discontinuation.

PMID: 23666317 [PubMed - indexed for MEDLINE]

The utility of cortical-sparing adrenalectomy in pheochromocytomas associated with genetic syndromes.

Tue, 03/18/2014 - 21:26
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The utility of cortical-sparing adrenalectomy in pheochromocytomas associated with genetic syndromes.

J Pediatr Surg. 2013 Jun;48(6):1422-5

Authors: Fallon SC, Feig D, Lopez ME, Brandt ML

Abstract
Management of pediatric patients with pheochromocytomas associated with genetic syndromes, such as Von Hippel-Lindau (VHL) disease, is complex owing to the need for continuous surveillance, high rates of recurrence, multiple operations during childhood, and the possibility of lifelong exogenous steroid replacement. We report the successful treatment of two siblings with VHL who underwent a total of six cortical-sparing procedures without requiring steroid therapy.

PMID: 23845641 [PubMed - indexed for MEDLINE]

Histopathological and immunohistochemical evaluation of malignant potential in canine aortic body tumours.

Tue, 03/18/2014 - 21:26
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Histopathological and immunohistochemical evaluation of malignant potential in canine aortic body tumours.

J Comp Pathol. 2013 Aug-Oct;149(2-3):182-91

Authors: Yamamoto S, Fukushima R, Hirakawa A, Abe M, Kobayashi M, Machida N

Abstract
In order to verify the malignant potential of aortic body tumours (ABTs) in dogs, 13 cases of canine ABT were studied histopathologically and immunohistochemically. The cases were divided into two groups according to the presence or absence of metastases to other organs at necropsy examination (metastasis group [n = 9] and non-metastasis group [n = 4]). The mean tumour weight:body weight ratio (TW:BW; g/kg) in the metastasis group (9.3 ± 6.7) was significantly higher than that in the non-metastasis group (1.5 ± 1.7) (P <0.05). In both groups, the neoplastic cells had malignant features including pleomorphism, anisocytosis and anisokaryosis, and mononuclear giant cells were present, showing invasion through the capsule and into the vascular lumen and other adjacent tissues. The mitotic index (MI), mean nuclear area (NA) for size value and coefficient of variation of the nuclear area (CVNA) for anisonucleosis did not differ significantly between the two groups. These findings show that anaplastic characteristics are present regardless of the tumour size or the presence or absence of metastases, suggesting that these tumours are generally malignant or potentially malignant. Immunohistochemical analysis using neuroendocrine markers including neuron-specific enolase, chromogranin A and S100 revealed no obvious differences in labelling intensity of neoplastic cells related to the presence or absence of metastases or associated with the mean TW:BW, MI, NA or CVNA value, indicating that immunohistochemistry has no practical value for determining the tumour grade of canine ABTs.

PMID: 23465289 [PubMed - indexed for MEDLINE]

Minimally invasive radical pancreatectomy for left-sided pancreatic cancer: Current status and future perspectives.

Tue, 03/11/2014 - 19:38
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Minimally invasive radical pancreatectomy for left-sided pancreatic cancer: Current status and future perspectives.

World J Gastroenterol. 2014 Mar 7;20(9):2343-2351

Authors: Kang CM, Lee SH, Lee WJ

Abstract
Minimally invasive distal pancreatectomy with splenectomy has been regarded as a safe and effective treatment for benign and borderline malignant pancreatic lesions. However, its application for left-sided pancreatic cancer is still being debated. The clinical evidence for radical antegrade modular pancreatosplenectomy (RAMPS)-based minimally invasive approaches for left-sided pancreatic cancer was reviewed. Potential indications and surgical concepts for minimally invasive RAMPS were suggested. Despite the limited clinical evidence for minimally invasive distal pancreatectomy in left-sided pancreatic cancer, the currently available clinical evidence supports the use of laparoscopic distal pancreatectomy under oncologic principles in well-selected left sided pancreatic cancers. A pancreas-confined tumor with an intact fascia layer between the pancreas and left adrenal gland/kidney positioned more than 1 or 2 cm away from the celiac axis is thought to constitute a good condition for the use of margin-negative minimally invasive RAMPS. The use of minimally invasive (laparoscopic or robotic) anterior RAMPS is feasible and safe for margin-negative resection in well-selected left-sided pancreatic cancer. The oncologic feasibility of the procedure remains to be determined; however, the currently available interim results indicate that even oncologic outcomes will not be inferior to those of open radical distal pancreatosplenectomy.

PMID: 24605031 [PubMed - as supplied by publisher]

Macronodular Adrenal Hyperplasia Due To Mutations in an Armadillo Repeat Containing 5 (ARMC5) gene: A Clinical And Genetic Investigation.

Tue, 03/11/2014 - 19:38
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Macronodular Adrenal Hyperplasia Due To Mutations in an Armadillo Repeat Containing 5 (ARMC5) gene: A Clinical And Genetic Investigation.

J Clin Endocrinol Metab. 2014 Mar 6;:jc20134280

Authors: Faucz FR, Zilbermint M, Lodish MB, Szarek E, Trivellin G, Sinaii N, Berthon A, Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Bertherat J, Stratakis CA

Abstract
Context: Inactivating germline mutations of the probable tumor suppressor gene Armadillo Repeat Containing 5 (ARMC5) have recently been identified as a genetic cause of macronodular adrenal hyperplasia (MAH). Objective: We searched for ARMC5 mutations in a large cohort of patients with MAH. The clinical phenotype of patients with and without ARMC5 mutations was compared. Methods: Blood DNA from 34 MAH patients was genotyped using Sanger sequencing. Diurnal serum cortisol measurements, plasma ACTH levels, urinary steroids, 6-day Liddle's test, adrenal computed tomography, and weight of adrenal glands at adrenalectomy were assessed. Results: Germline ARMC5 mutations were found in 15 out of 34 patients (44.1%). In silico analysis of the mutations indicated that 7 (20.6%) predicted major implications for gene function. Late-night cortisol levels were higher in patients with ARMC5 damaging mutations compared to those without and/or with non-pathogenic mutations (14.5±5.6 vs. 6.7±4.3, p<0.001). All patients carrying a pathogenic ARMC5 mutation had clinical Cushing's syndrome (7/7, 100%) compared to 14/27 (52%) of those without or with mutations that were predicted to be benign (p=0.029). Repeated measures analysis showed overall higher urinary 17-hydroxycorticosteroids and serum cortisol values in the patients with ARMC5 damaging mutations during the 6 day Liddle's test (p=0.0002). Conclusions: ARMC5 mutations are implicated in clinically severe Cushing's syndrome associated with MAH. Knowledge of a patient's ARMC5 status has important clinical implications for the diagnosis of Cushing's syndrome and genetic counseling of patients and their families.

PMID: 24601692 [PubMed - as supplied by publisher]

[Primary Renal Rhabdomyosarcoma: A Case Report.]

Tue, 03/04/2014 - 16:29
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[Primary Renal Rhabdomyosarcoma: A Case Report.]

Turk Patoloji Derg. 2014 Feb 27;

Authors: Gürel D, Tuna B, Yörükoğlu K, Aslan G

Abstract
Renal sarcoma represents 1-3% of all renal malignant tumours. Primary rhabdomyosarcoma of the kidney is a rare and highly aggressive tumor in the adult population. Here, we report the case of a 50-year-old woman with a large rhabdomyosarcoma of the left kidney and associated adrenal cortical adenoma. Rhabdomyo sarcoma is a very rare tumor in adults but it needs to be considered in the differential diagnosis among undifferentiated malignant tumors.

PMID: 24585347 [PubMed - as supplied by publisher]

Metabolomic profile of the adrenal gland: from physiology to pathological conditions.

Tue, 03/04/2014 - 16:29
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Metabolomic profile of the adrenal gland: from physiology to pathological conditions.

Endocr Relat Cancer. 2013 Oct;20(5):705-16

Authors: Imperiale A, Elbayed K, Moussallieh FM, Reix N, Piotto M, Bellocq JP, Goichot B, Bachellier P, Namer IJ

Abstract
In this study, we i) assessed the metabolic profile of the normal adrenal cortex and medulla of adult human subjects by means of (1)H-high-resolution magic-angle spinning nuclear magnetic resonance (HRMAS NMR) spectroscopy; ii) compared the biochemical profile of adenoma (Ad), adrenal cortical carcinoma (ACC), and pheochromocytoma (PCC) samples with that of healthy adrenal tissue samples; and iii) investigated the metabolic differences between ACCs and Ads as well as between ACCs and PCCs. Sixty-six tissue samples (13 adrenal cortical tissue, eight medullary tissue, 13 Ad, 12 ACC, and 20 PCC samples) were analyzed. Adrenaline and noradrenaline were undetectable in cortical samples representing the metabolic signature of the tissue derived from neural crest. Similarity between the metabolic profile of Ads and that of the normal adrenal cortex was shown. Inversely, ACC samples clearly made up a detached group exhibiting the typical stigmata of neoplastic tissue such as choline-containing compounds, biochemical markers of anaerobic processes, and increased glycolysis. Significantly higher levels of lactate, acetate, and total choline-containing compounds played a major role in the differentiation of ACCs from Ads. Moreover, the high fatty acid content of ACCs contributed to the cluster identification of ACCs. Of the 14 sporadic PCC samples, 12 exhibited predominant or exclusive noradrenaline secretion. The noradrenaline:adrenaline ratio was inverted in the normal medullary tissue samples. Multiple endocrine neoplasia type 2- and NF1-related PCC samples exhibited both adrenaline and noradrenaline secretion. In the von Hippel-Lindau disease-related PCC samples, only noradrenaline secretion was detected by HRMAS NMR spectroscopy. This study is one of the first applications of metabolomics to adrenal pathophysiology and it is the largest study to report HRMAS NMR data related to the adrenal cortex and adrenal cortical tumors.

PMID: 23921203 [PubMed - indexed for MEDLINE]

ECG of the Month. Cardiac arrhythmia associated with atrial fibrosis and a heart tumor.

Tue, 03/04/2014 - 16:29
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ECG of the Month. Cardiac arrhythmia associated with atrial fibrosis and a heart tumor.

J Am Vet Med Assoc. 2013 Aug 15;243(4):489-91

Authors: Saponaro V, Tursi M, Migliorini F, Crovace A

PMID: 23902440 [PubMed - indexed for MEDLINE]

11β-Hydroxydihydrotestosterone and 11-ketodihydrotestosterone, novel C19 steroids with androgenic activity: a putative role in castration resistant prostate cancer?

Tue, 03/04/2014 - 16:29
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11β-Hydroxydihydrotestosterone and 11-ketodihydrotestosterone, novel C19 steroids with androgenic activity: a putative role in castration resistant prostate cancer?

Mol Cell Endocrinol. 2013 Sep 5;377(1-2):135-46

Authors: Storbeck KH, Bloem LM, Africander D, Schloms L, Swart P, Swart AC

Abstract
Adrenal C19 steroids, dehydroepiandrostenedione (DHEA(S)) and androstenedione (A4), play a critical role in castration resistant prostate cancer (CRPC) as they are metabolised to dihydrotestosterone (DHT), via testosterone (T), or via the alternate 5α-dione pathway, bypassing T. Adrenal 11OHA4 metabolism in CRPC is, however, unknown. We present a novel pathway for 11OHA4 metabolism in CRPC leading to the production of 11ketoT (11KT) and novel 5α-reduced C19 steroids - 11OH-5α-androstanedione, 11keto-5α-androstanedione, 11OHDHT and 11ketoDHT (11KDHT). The pathway was validated in the androgen-dependent prostate cancer cell line, LNCaP. Androgen receptor (AR) transactivation studies showed that while 11KT and 11OHDHT act as a partial AR agonists, 11KDHT is a full AR agonist exhibiting similar activity to DHT at 1nM. Our data demonstrates that, while 11OHA4 has negligible androgenic activity, its metabolism to 11KT and 11KDHT yields androgenic compounds which may be implicated, together with A4 and DHEA(S), in driving CRPC in the absence of testicular T.

PMID: 23856005 [PubMed - indexed for MEDLINE]

Polarization of TH2 response is decreased during pregnancy in systemic lupus erythematosus.

Tue, 03/04/2014 - 16:29
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Polarization of TH2 response is decreased during pregnancy in systemic lupus erythematosus.

Reumatismo. 2012;64(5):314-20

Authors: Iaccarino L, Ghirardello A, Zen M, Villalta D, Tincani A, Punzi L, Doria A

Abstract
This study evaluated some cytokines involved in the Th1-Th2 shift during pregnancy in patients with systemic lupus erythematosus (SLE) and healthy women. Twenty-seven consecutive successful pregnancies in 26 SLE patients and 28 pregnancies in 28 matched healthy subjects, as controls, were enrolled and prospectively studied. Sera obtained at first and third trimesters of pregnancy were tested for IL-1α, IL-1β, IL-2, IL-6, IL-8, IL-10, IL-12p70, INF-γ, and TNF-α with a highly sensitive, multiplexed sandwich ELISA (SearchLight Human Inflammatory Cytokine Array). Statistics were performed by SPSS package. IL-8 serum levels were higher in the first (P&lt;0.0001) and third (P=0.003) trimesters of pregnancy in SLE patients compared with controls, INF-γ serum levels in the third trimester (P=0.009), and IL-10 serum levels in the first and third trimesters (P=0.055 and P&lt;0.0001, respectively). IL-2 (r=0.524 P=0.010), IL-12 (r=0.549 P=0.007), IFN-γ (r=0.492 P=0.017), and IL-6 (r=0.515 P=0.020) serum levels correlated with disease activity in SLE patients in the first trimester of pregnancy. Cytokine profile was similar in patients with and without lupus nephritis both in the first and in the third trimesters of pregnancy. IL-8 serum levels were lower in patients with a previous diagnosis of antiphospholipid antibody syndrome compared with those without, both in the first and in the third trimesters of pregnancy. In SLE patients, a lower than expected decrease in Th1 cytokine serum levels was observed in the third trimester of gestation which could contribute to a lower Th2 cytokine polarization during pregnancy.

PMID: 23256107 [PubMed - indexed for MEDLINE]

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