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NCBI: db=pubmed; Term=adrenal tumor
Updated: 5 days 5 hours ago

Genetics of adrenal tumors.

Wed, 11/28/2018 - 02:39
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Genetics of adrenal tumors.

Presse Med. 2018 Jul - Aug;47(7-8 Pt 2):e107-e108

Authors: Bertherat J

PMID: 30172347 [PubMed - indexed for MEDLINE]

Florid hyperandrogenism due to a benign adrenocortical adenoma.

Wed, 11/28/2018 - 02:39
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Florid hyperandrogenism due to a benign adrenocortical adenoma.

BMJ Case Rep. 2018 Jul 30;2018:

Authors: LaVoie M, Constantinides V, Robin N, Kyriacou A

Abstract
A 26-year-old woman with a history of polycystic ovarian syndrome presented with secondary amenorrhea, worsening hirsutism, acne, deepening of voice and unexplained 10-20 kg weight gain. Her Ferriman-Gallway hirsutism score was 12 with cystic facial acne and increased masculine phenotype. Urine Beta-Human Chorionic Gonadotropins (bHCG) was negative. She had elevated serum testosterone of 551 ng/dL, androstenedione at 7.46 ng/mL and dehydroepiandrosterone sulfate (DHEAS) at 4243 µg/L. Overnight dexamethasone suppression test showed mildly unsuppressed cortisol (2.89 µg/dL). Urinary free cortisol along with paired serum cortisol and adrenocorticotrophic hormone (ACTH) tests were normal (55.4 µg/24 hours, 13.44 mcg/dL, 30.4 pg/mL respectively). Her leutinizing hormone (LH) was low(<0.1 mIU/mL), follicle stimulating hormone (FSH) low/normal (1.41 mIU/mL) with sex hormone binding globulin (SHBG) level 45nmol/L and the rest of the pituitary and adrenal workup was unremarkable. Thyroid stimulating hormone (TSH) was 2.15mU/mL. MRI revealed a 3.1 cm, indeterminate but well-defined left adrenal lesion and polycystic ovaries without abdominal lymphadenopathy. Given radiological appearances and despite biochemical concerns for adrenocortical malignancy, a multidisciplinary team meeting decision was made to proceed with laparoscopic adrenalectomy. Histology was consistent with a benign adenoma. Postoperatively, there was clinical and biochemical resolution of the disease.

PMID: 30061126 [PubMed - indexed for MEDLINE]

LC-MS/MS based profiling and dynamic modelling of the steroidogenesis pathway in adrenocarcinoma H295R cells.

Wed, 11/28/2018 - 02:39
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LC-MS/MS based profiling and dynamic modelling of the steroidogenesis pathway in adrenocarcinoma H295R cells.

Toxicol In Vitro. 2018 Oct;52:332-341

Authors: Ahmed KEM, Frøysa HG, Karlsen OA, Sagen JV, Mellgren G, Verhaegen S, Ropstad E, Goksøyr A, Kellmann R

Abstract
Endocrine disrupting chemicals have been reported to exert effects directly on enzymes involved in steroid biosynthesis. Here, we present a new liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for profiling the steroid metabolome of H295R human adrenocarcinoma cells. Our method can simultaneously analyse 19 precursors, intermediates and end-products, representing the adrenal steroid biosynthesis pathway. In order to obtain better insights into the processes of steroidogenesis, we investigated the dose-response relationship of forskolin, an activator of adenylate cyclase, on steroid production in H295R cells. We observed that 1.5 μM forskolin stimulated steroid production at approximately 50% of the maximum rate for most steroids. Hence, we studied the time course for steroid synthesis over 72 h in H295R cells that were stimulated with forskolin. At 24 h, we observed a peak in steroid levels for the intermediate metabolites, such as progesterone and pregnenolone, while end-products such as testosterone and cortisol continued to increase until 72 h. Finally, we show how global data provide a unique basis to develop a comprehensive, dynamic model for steroidogenesis using first order kinetics. The timeline data made it possible to estimate all reaction rate constants of the network. We propose this method as a unique and sensitive screening tool to identify effects on adrenal steroidogenesis by endocrine disrupting compounds.

PMID: 30017865 [PubMed - indexed for MEDLINE]

Golimumab effectiveness and safety in clinical practice for moderately active ulcerative colitis.

Wed, 11/28/2018 - 02:39
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Golimumab effectiveness and safety in clinical practice for moderately active ulcerative colitis.

Eur J Gastroenterol Hepatol. 2018 09;30(9):1019-1026

Authors: O'Connell J, Rowan C, Stack R, Harkin G, Parihar V, Chan G, Breslin N, Cullen G, Dunne C, Egan L, Harewood G, Leyden J, MacCarthy F, MacMathuna P, Mahmud N, McKiernan S, McNamara D, Mulcahy H, Murray F, O'Connor A, O'Toole A, Patchett S, Ryan B, Sheridan J, Slattery E, Doherty G, Kevans D

Abstract
BACKGROUND AND AIMS: Golimumab (GLB) is an antitumour necrosis factor-α (anti-TNF) therapy that has shown efficacy as induction and maintenance therapy for ulcerative colitis (UC). We aimed to describe the outcome of GLB therapy for UC in a real-world clinical practice.
PATIENTS AND METHODS: Consecutive patients receiving GLB for UC in six Irish Academic Medical Centres were identified. The primary study endpoint was the 6-month corticosteroid-free remission rate. The secondary endpoints included the 3-month clinical response, time free of GLB discontinuation and adverse events.
RESULTS: Seventy-two patients were identified [57% men; median (range) age of 41.4 years (20.3-76.8); disease duration 6.6 years (0-29.9); follow-up 8.7 months (0.4-39.2)]. Sixty-four percent of patients were anti-TNF naive. The 3-month clinical response and the 6-month corticosteroid-free remission rates were 55 and 39%, respectively. Forty-four percent of patients discontinued GLB during the follow-up, median (95% confidence interval) time to GLB discontinuation 18.7 months (9.2-28.1). A C-reactive protein more than 5 mg/l at baseline was associated with failure to achieve 6-month corticosteroid-free remission and a shorter time to GLB discontinuation, odds ratio 0.2 (0.1-0.7), P=0.008, and hazard ratio (95% confidence interval) 2.8 (1.3-5.7), P=0.007, respectively. Adverse events occurred in 7% of patients (n=5), all of which were minor and self-limiting.
CONCLUSION: These real-world clinical data suggest that GLB is an effective and safe therapy for a UC cohort with significant previous anti-TNF exposure. An elevated baseline C-reactive protein, likely reflective of increased inflammatory burden, is associated with a reduced likelihood of a successful outcome of GLB therapy.

PMID: 29878945 [PubMed - indexed for MEDLINE]

Brown tumor of the jaws as a manifestation of tertiary hyperparathyroidism: A literature review and case report.

Wed, 11/28/2018 - 02:39
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Brown tumor of the jaws as a manifestation of tertiary hyperparathyroidism: A literature review and case report.

Spec Care Dentist. 2018 May;38(3):163-171

Authors: Dos Santos B, Koth VS, Figueiredo MA, Salum FG, Cherubini K

Abstract
Brown tumor of the jaws is a manifestation of hyperparathyroidism consisting of osteolytic lesions that show proliferation of multinucleated giant cells in the maxilla and/or mandible. Differential diagnosis of these lesions from local central giant-cell granuloma is mandatory for the correct treatment of the patient. Radiographic and histopathological exams of the jaw lesion are not sufficient to determine the diagnosis, which requires laboratory tests including serum levels of calcium, alkaline phosphatase, parathyroid hormone (PTH) and phosphate, and radiographic examination of other bones as well, such as hand-wrist, pelvis, and femur. We present here a brief literature review focusing on the clinical and radiographic features, diagnostic criteria and treatment of brown tumor and also report a case of the disease affecting the jaw.

PMID: 29603323 [PubMed - indexed for MEDLINE]

Targeting CXCR4 (CXC Chemokine Receptor Type 4) for Molecular Imaging of Aldosterone-Producing Adenoma.

Wed, 11/28/2018 - 02:39
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Targeting CXCR4 (CXC Chemokine Receptor Type 4) for Molecular Imaging of Aldosterone-Producing Adenoma.

Hypertension. 2018 02;71(2):317-325

Authors: Heinze B, Fuss CT, Mulatero P, Beuschlein F, Reincke M, Mustafa M, Schirbel A, Deutschbein T, Williams TA, Rhayem Y, Quinkler M, Rayes N, Monticone S, Wild V, Gomez-Sanchez CE, Reis AC, Petersenn S, Wester HJ, Kropf S, Fassnacht M, Lang K, Herrmann K, Buck AK, Bluemel C, Hahner S

Abstract
Primary aldosteronism is the most frequent cause of secondary hypertension and is associated with increased morbidity and mortality compared with hypertensive controls. The central diagnostic challenge is the differentiation between bilateral and unilateral disease, which determines treatment options. Bilateral adrenal venous sampling, currently recommended for differential diagnosis, is an invasive procedure with several drawbacks, making it desirable to develop novel noninvasive diagnostic tools. When investigating the expression pattern of chemokine receptors by quantitative real-time polymerase chain reaction and immunohistochemistry, we observed high expression of CXCR4 (CXC chemokine receptor type 4) in aldosterone-producing tissue in normal adrenals, adjacent adrenal cortex from adrenocortical adenomas, and in aldosterone-producing adenomas (APA), correlating strongly with the expression of CYP11B2 (aldosterone synthase). In contrast, CXCR4 was not detected in the majority of nonfunctioning adenomas that are frequently found coincidently. The specific CXCR4 ligand 68Ga-pentixafor has recently been established as radiotracer for molecular imaging of CXCR4 expression and showed strong and specific binding to cryosections of APAs in our study. We further investigated 9 patients with primary aldosteronism because of APA by 68Ga-pentixafor-positron emission tomography. The tracer uptake was significantly higher on the side of increased adrenocortical aldosterone secretion in patients with APAs compared with patients investigated by 68Ga-pentixafor-positron emission tomography for other causes. Molecular imaging of aldosterone-producing tissue by a CXCR4-specific ligand may, therefore, be a highly promising tool for noninvasive characterization of patients with APAs.

PMID: 29279316 [PubMed - indexed for MEDLINE]

Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation.

Wed, 11/28/2018 - 02:39
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Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation.

Endocr Relat Cancer. 2017 11;24(11):L79-L82

Authors: Deng Y, Flores SK, Cheng Z, Qin Y, Schwartz RC, Malchoff C, Dahia PLM

PMID: 28855235 [PubMed - indexed for MEDLINE]

Slowly Growing Adrenal Mass: A 20-Year Incubation.

Wed, 11/28/2018 - 02:39
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Slowly Growing Adrenal Mass: A 20-Year Incubation.

Am J Med. 2017 11;130(11):e479-e483

Authors: Takahashi N, Tanabe A, Yamazaki Y, Sasano H, Kajio H

PMID: 28756269 [PubMed - indexed for MEDLINE]

Rapidly progressive lupus nephritis associated with golimumab in a patient with systemic lupus erythematosus and rheumatoid arthritis.

Wed, 11/28/2018 - 02:39
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Rapidly progressive lupus nephritis associated with golimumab in a patient with systemic lupus erythematosus and rheumatoid arthritis.

Lupus. 2017 04;26(4):447-448

Authors: Saka Y, Taniguchi Y, Nagahara Y, Yamashita R, Karasawa M, Naruse T, Watanabe Y

PMID: 27510604 [PubMed - indexed for MEDLINE]

adrenal tumor; +23 new citations

Wed, 11/21/2018 - 01:23

23 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

adrenal tumor

These pubmed results were generated on 2018/11/21

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

adrenal tumor; +28 new citations

Tue, 11/13/2018 - 23:18

28 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

adrenal tumor

These pubmed results were generated on 2018/11/13

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Juxta-adrenal schwannoma presenting as a giant adrenal tumor: A case report and a literature review.

Tue, 11/06/2018 - 21:05
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Juxta-adrenal schwannoma presenting as a giant adrenal tumor: A case report and a literature review.

Int J Surg Case Rep. 2018 Oct 15;53:132-136

Authors: Abdessater M, El Mokdad M, Gas J, Sleiman W, Coloby P, Bart S

Abstract
INTRODUCTION: Retroperitoneal schwannomas (RS) are rare, benign tumors that originate in the neural sheath. Juxta-adrenal schwannomas may be misdiagnosed with giant adrenal tumors. This article reports the case of a RS that presented as an asymptomatic adrenal mass in a 50 Y.O female.
PRESENTATION OF CASE: An abdominal ultrasound of our asymptomatic patient showed right adrenal lesion of 9 cm of diameter. Endocrinological evaluation was negative. The patient was considered to have a non-secreting right adrenal mass confirmed by adrenal scan. We began a right laparoscopic trans peritoneal adrenalectomy, but when we discovered intra operatively that the wall of the IVC and the renal vein were very adherent to the mass which had a lot of small vessels that were bleeding, we converted to open surgery that allowed us to remove the mass safely. The operative time was 200 min, the blood loss was 850 cc and the patient was discharged uneventfully on the sixth day after surgery.
DISCUSSION: Although we thought that we removed a huge adrenal tumor from the retroperitoneum of our patient, the pathological exam revealed a RS that comprises the adrenal gland which was normal. Preoperative establishment of diagnosis is difficult in case of RS that can be misdiagnosed, especially when they stick to other structures (the adrenal in our case).
CONCLUSION: Complete surgical resection is the treatment of choice for RS and open surgery is the safest option when we have big tumors. Histology and Immunohistochemistry confirms the diagnosis that can be easily missed preoperatively.

PMID: 30391738 [PubMed - as supplied by publisher]

CT characteristics of pheochromocytoma - Relevance for the evaluation of adrenal incidentaloma.

Tue, 11/06/2018 - 21:05
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CT characteristics of pheochromocytoma - Relevance for the evaluation of adrenal incidentaloma.

J Clin Endocrinol Metab. 2018 Oct 31;:

Authors: Canu L, Van Hemert JAW, Kerstens M, Hartman RP, Khanna A, Kraljevic I, Kastelan D, Badiu C, Ambroziak U, Tabarin A, Haissaguerre M, Buitenwerf E, Visser A, Mannelli M, Arlt W, Chortis V, Bourdeau I, Gagnon N, Buchy M, Borson-Chazot F, Deutschbein T, Fassnacht M, Hubalewska Dydejczyk HA, Motyka M, Rzepka E, Casey RT, Challis BG, Quinkler M, Vroonen L, Spyroglou A, Beuschlein F, Lamas C, Young WF, Bancos I, Timmers HJLM

Abstract
Background: Up to 7% of all adrenal incidentalomas (AIs) are pheochromocytomas (PCCs). In the evaluation of AI, it is generally recommended to exclude PCC by measurement plasma free or 24h urinary fractionated metanephrines. However, recent studies suggest to abstain from biochemical exclusion of PCC in cases of lesions with computed tomography (CT) characteristics of an adrenocortical adenoma (ACA).
Aim: To determine the proportion of PCCs with ACA-like attenuation or contrast washout on CT.
Methods: For this multicenter retrospective study, two central investigators independently analyzed the CT reports of 533 patients with 548 histologically confirmed PCCs. Data on tumor size, unenhanced Hounsfield Units (HU), absolute percentage washout (APW) and relative percentage washout (RPW) were collected besides clinical parameters.
Results: Among the 376 PCCs for which unenhanced attenuation data were available, 374 had an attenuation of >10 HU (99.5%). In the two exceptions (0,5%), unenhanced attenuation was exactly 10 HU, which lies just within the range of ≤10 HU that would suggest a diagnosis of ACA. Of 76 PCCs with unenhanced HU >10 and available washout data, 22 (28,9%) had a high APW and/or RPW, suggestive of ACA.
Conclusion: Based on the lack of PCCs with an unenhanced attenuation of <10 HU, and the low proportion (0,5%) of PCCs with an attenuation of =10 HU, it seems reasonable to abstain from biochemical testing for PCC in AIs with an unenhanced attenuation ≤10 HU. The assessment of contrast washout, however, is unreliable to rule out PCC.

PMID: 30383267 [PubMed - as supplied by publisher]

Pheochromocytoma with Brain Metastasis: A Extremely Rare Case in Worldwide.

Tue, 11/06/2018 - 21:05
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Pheochromocytoma with Brain Metastasis: A Extremely Rare Case in Worldwide.

Brain Tumor Res Treat. 2018 Oct;6(2):101-104

Authors: Cho YS, Ryu HJ, Kim SH, Kang SG

Abstract
Pheochromocytoma (PCC) is a neuroendocrine tumor that mainly arises from the medulla of the adrenal gland. Some PCCs become malignant and metastasize to other organs. For example, it typically involves skeletal system, liver, lung, and regional lymph nodes. However, only a few cases of PCC with brain metastasis have been reported worldwide. We report a case of metastatic brain tumor from PCC in South Korea in 2016. A 52-year-old man presented with headache, dizziness and motor aphasia. He had a medical history of PCC with multi-organ metastasis, previously underwent several operations, and was treated with chemotherapy and radiotherapy. Brain MRIs showed a brain tumor on the left parietal lobe. Postoperative pathology confirmed that the metastatic brain tumor derived from malignant PCC. This is the first report PCC with brain metastasis in South Korea.

PMID: 30381926 [PubMed]

Fractionated stereotactic radiation therapy for adrenal metastases: contributing to local tumor control with low toxicity.

Tue, 11/06/2018 - 21:05
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Fractionated stereotactic radiation therapy for adrenal metastases: contributing to local tumor control with low toxicity.

Strahlenther Onkol. 2018 Oct 29;:

Authors: Burjakow K, Fietkau R, Putz F, Achterberg N, Lettmaier S, Knippen S

Abstract
PURPOSE: To report on the Erlangen (UK-Er) experience with linear accelerator stereotactic body radiation therapy (LINAC SBRT) for adrenal metastasis from various primary tumors.
MATERIALS AND METHODS: 33 patients were treated. Primary sites included lung (n = 19), melanoma (n = 8), colorectal (n = 2), hepatocellular (n = 1), esophageal (n = 2), and breast cancer (n = 1). 14 patients were treated palliatively, 19 patients were treated with local curative intent.
RADIATION TREATMENT: Treatment planning was done based on an exhale, mid-ventilation, and inspiration CT series. Further planning CTs were done to check for the correctness of the breathing pattern. Irradiation was performed using a NOVALIS (Varian, Palo Alto, CA, USA; Brainlab AG, München, Germany) linear accelerator. The isocenter was verified before each treatment session using the BrainLab ExacTrac® (Brainlab AG, München, Germany) system to minimize setup errors. Dose was prescribed to the planning target volume (PTV) surrounding 90% isodose.
FOLLOW-UP: Depending on their overall performance status and prognosis, patients received clinical check-ups and radiological imaging. Median follow-up was 11 months.
STATISTICAL ANALYSIS: IBM SPSS v. 24 was used for univariate analysis using Kaplan-Meier curves, nonparametric Kruskal-Wallis test, and the chi-square test for frequency distributions. Toxicity was graded according to NCI CTCAE v4.0. Depending on radiologic imaging, patients were classified as stable, regression, and progression.
RESULTS: Median survival was 11 months, median PFS was 5 months. Median local failure-free survival was 21 months. Patients who were treated with curative intent showed a better survival curve (p < 0.0001) and PFS (p = 0.004). BED ranged from 42 to 108.8 Gy, median BED was 67.2 Gy. Three BED groups were formed. Overall survival curves differed significantly (p = 0.046), favoring the high-dose group. 21 patients were free from any adverse events or discomfort. In 7 cases, a grade I toxicity was noted.

PMID: 30374590 [PubMed - as supplied by publisher]

Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma.

Tue, 11/06/2018 - 21:05
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Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma.

Endocr Pathol. 2018 Jun;29(2):169-175

Authors: Cheung VKY, Gill AJ, Chou A

Abstract
The evolution of genetic research over the past two decades has greatly improved the understanding of pheochromocytomas and paragangliomas. It is now accepted that more than one third of pheochromocytoma and paragangliomas arise in the context of syndromic disease, usually hereditary. The genetic profile of these tumors also has important prognostic implications which may help guide treatment. Accompanying the changing molecular landscape is the development of new immunohistochemical markers. Initially used in assisting with diagnosis, immunohistochemical markers have now become an important adjunct to screening programs for inherited conditions and subsequently as prognostic markers. The accessibility and efficiency of immunohistochemistry bring pathologists to the forefront in triaging patients based on tumor genotype-phenotype. In this review, we provide an update on the role of immunohistochemistry in the diagnosis of pheochromocytomas and paragangliomas, as an adjunct to assessment for hereditary disease and finally as a potential tool to assist risk stratification.

PMID: 29779206 [PubMed - indexed for MEDLINE]

Immunohistochemical expression of glypican-3 in adrenocortical carcinoma: A potential cause of diagnostic pitfalls.

Tue, 11/06/2018 - 21:05
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Immunohistochemical expression of glypican-3 in adrenocortical carcinoma: A potential cause of diagnostic pitfalls.

Ann Diagn Pathol. 2018 08;35:92-93

Authors: Lionti S, Ieni A, Cannavò S, Barresi V

PMID: 29748062 [PubMed - indexed for MEDLINE]

Effectiveness and safety of anti-TNF therapy for inflammatory bowel disease in liver transplant recipients for primary sclerosing cholangitis: A nationwide case series.

Tue, 11/06/2018 - 21:05
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Effectiveness and safety of anti-TNF therapy for inflammatory bowel disease in liver transplant recipients for primary sclerosing cholangitis: A nationwide case series.

Dig Liver Dis. 2018 07;50(7):668-674

Authors: Altwegg R, Combes R, Laharie D, De Ledinghen V, Radenne S, Conti F, Chazouilleres O, Duvoux C, Dumortier J, Leroy V, Treton X, Durand F, Dharancy S, Nachury M, Goutorbe F, Lamblin G, Boivineau L, Peyrin-Biroulet L, Pageaux GP

Abstract
BACKGROUND: There is a lack of consensus regarding the treatment of inflammatory bowel disease (IBD) after liver transplantation (LT) forprimary sclerosing cholangitis (PSC).
AIM: To investigate the safety and effectiveness of anti-TNF therapy in patients with IBD after a LT for PSC.
METHODS: We reviewed the medical files of all of the IBD patients who underwent a LT for PSC and who were treated with anti-TNF therapy at 23 French liver transplantation centers between 1989 and 2012.
RESULTS: Eighteen patients (12 with ulcerative colitis and 6 who had Crohn's disease) were recruited at 9 LT centers. All of these patients received infliximab or adalimumab following their LT, and the median duration of their anti-TNF treatment was 10.4 months. The most frequent concomitant immunosuppressive treatment comprised a combination of tacrolimus and corticosteroids. Following anti-TNF therapy induction, a clinical response was seen in 16/18 patients (89%) and clinical remission in 10 (56%). At the end of the anti-TNF treatment or at the last follow-up examination (the median follow-up was 20.9 months), a clinical response was achieved in 12 patients (67%) and clinical remission in 7 (39%). A significant endoscopic improvement was observed in 9 out of 14 patients and a complete mucosal healing in 3 out of 14 patients (21%). Six patients experienced a severe infection. These were due to cholangitis, cytomegalovirus (CMV) infection, Clostridium difficile, cryptosporidiosis, or Enterococcus faecalis. Three patients developed colorectal cancer after LT, and two patients died during the follow-up period.
CONCLUSIONS: Anti-TNF therapy proved to be effective for treating IBD after LT for PSC. However, as 17% of the patients developed colorectal cancer during the follow-up, colonoscopic annual surveillance is recommended after LT, as specified in the current guidelines.

PMID: 29655972 [PubMed - indexed for MEDLINE]

Clock genes alterations and endocrine disorders.

Tue, 11/06/2018 - 21:05
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Clock genes alterations and endocrine disorders.

Eur J Clin Invest. 2018 Jun;48(6):e12927

Authors: Angelousi A, Kassi E, Nasiri-Ansari N, Weickert MO, Randeva H, Kaltsas G

Abstract
BACKGROUND: Various endocrine signals oscillate over the 24-hour period and so does the responsiveness of target tissues. These daily oscillations do not occur solely in response to external stimuli but are also under the control of an intrinsic circadian clock.
DESIGN: We searched the PubMed database to identify studies describing the associations of clock genes with endocrine diseases.
RESULTS: Various human single nucleotide polymorphisms of brain and muscle ARNT-like 1 (BMAL1) and Circadian Locomotor Output Cycles Kaput (CLOCK) genes exhibited significant associations with type 2 diabetes mellitus. ARNTL2 gene expression and upregulation of BMAL1 and PER1 were associated with the development of type 1 diabetes mellitus. Thyroid hormones modulated PER2 expression in a tissue-specific way, whereas BMAL1 regulated the expression of type 2 iodothyronine deiodinase in specific tissues. Adrenal gland and adrenal adenoma expressed PER1, PER2, CRY2, CLOCK and BMAL1 genes. Adrenal sensitivity to adrenocorticotrophin was also affected by circadian oscillations. A significant correlation between the expression of propio-melanocorticotrophin and PER 2, as well as between prolactin and CLOCK, was found in corticotroph and lactosomatotroph cells, respectively, in the pituitary. Clock genes and especially BMAL1 showed an important role in fertility, whereas oestradiol and androgens exhibited tissue-specific effects on clock gene expression. Metabolic disorders were also associated with circadian dysregulation according to studies in shift workers.
CONCLUSIONS: Clock genes are associated with various endocrine disorders through complex mechanisms. However, data on humans are scarce. Moreover, clock genes exhibit a tissue-specific expression representing an additional level of regulation. Their specific role in endocrine disorders and their potential implications remain to be further clarified.

PMID: 29577261 [PubMed - indexed for MEDLINE]

Immunohistochemical Biomarkers of Adrenal Cortical Neoplasms.

Tue, 11/06/2018 - 21:05
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Immunohistochemical Biomarkers of Adrenal Cortical Neoplasms.

Endocr Pathol. 2018 Jun;29(2):137-149

Authors: Mete O, Asa SL, Giordano TJ, Papotti M, Sasano H, Volante M

Abstract
Careful morphological evaluation forms the basis of the workup of an adrenal cortical neoplasm. However, the adoption of immunohistochemical biomarkers has added tremendous value to enhance diagnostic accuracy. The authors provide a brief review of immunohistochemical biomarkers that have been used in the confirmation of adrenal cortical origin and in the detection of the source of functional adrenal cortical proliferations, as well as diagnostic, predictive, and prognostic biomarkers of adrenal cortical carcinoma. In addition, a brief section on potential novel theranostic biomarkers in the prediction of treatment response to mitotane and other relevant chemotherapeutic agents is also provided. In the era of precision and personalized medical practice, adoption of combined morphology and immunohistochemistry provides a new approach to the diagnostic workup of adrenal cortical neoplasms, reflecting the evolution of clinical responsibility of pathologists.

PMID: 29542002 [PubMed - indexed for MEDLINE]

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