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https://www.readbyqxmd.com/read/28938470/genetic-disruption-of-21-hydroxylase-in-zebrafish-causes-interrenal-hyperplasia
#1
Helen Eachus, Andreas Zaucker, James A Oakes, Aliesha Griffin, Meltem Weger, Tülay Güran, Angela Taylor, Abigail Harris, Andy Greenfield, Jonathan L Quanson, Karl-Heinz Storbeck, Vincent T Cunliffe, Ferenc Müller, Nils Krone
Congenital adrenal hyperplasia is a group of common inherited disorders leading to glucocorticoid deficiency. Most cases are caused by 21-hydroxylase deficiency (21OHD). The systemic consequences of imbalanced steroid hormone biosynthesis due to severe 21OHD remains poorly understood. Therefore, we have developed a zebrafish model for 21OHD, which focuses on the impairment of glucocorticoid biosynthesis. A single 21-hydroxylase gene (cyp21a2) is annotated in the zebrafish genome based on sequence homology. Our in silico analysis of the Cyp21a2 protein sequence suggests a sufficient degree of similarity for the usage of zebrafish cyp21a2 to model aspects of human 21OHD in vivo...
September 13, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938438/targeted-disruption-of-yap-and-taz-impairs-the-maintenance-of-the-adrenal-cortex
#2
Adrien Levasseur, Guillaume St-Jean, Marilène Paquet, Derek Boerboom, Alexandre Boyer
Yes-associated protein (YAP) and transcriptional co-activator with PDZ-binding motif (TAZ) are functionally redundant transcriptional regulators that are downstream effectors of the Hippo signaling pathway. They act as major regulators of stem cell maintenance, cell growth and differentiation. To characterize their roles in the adrenal cortex, we generated a mouse model in which Yap and Taz were conditionally deleted in steroidogenic cells (Yapflox/flox;Tazflox/flox;Nr5a1cre/+). Male Yapflox/flox;Tazflox/flox;Nr5a1cre/+ mice were characterized by an age-dependent degeneration of the adrenal cortex associated with an increase in apoptosis and a progressive reduction in the expression levels of steroidogenic genes...
September 14, 2017: Endocrinology
https://www.readbyqxmd.com/read/28937015/chronic-noise-exposure-in-the-spontaneously-hypertensive-rat
#3
Anne T M Konkle, Stephen E Keith, James P McNamee, David Michaud
INTRODUCTION: Epidemiological studies have suggested an association between the relative risk for developing cardiovascular disease (CVD) and long-term exposure to elevated levels of transportation noise. The contention is that this association is largely owing to an increase in stress-related biomarkers that are thought to be associated with CVD. Animal models have demonstrated that acute noise exposure is capable of triggering a stress response; however, similar studies using chronic noise models are less common...
September 2017: Noise & Health
https://www.readbyqxmd.com/read/28935415/-hepatic-myelolipoma-a-rare-entity-case-report-and-review-of-the-literature
#4
Mathieu Gallo, Laurent Mineur, Hélène Emptas, Valérie Costes, Jeanne Ramos
Hepatic myelolipoma is a rare entity with only 17 cases described in the literature. A 73mm right liver mass was fortuitously discovered in a 55-year-old man. The biopsy showed normal hepatic tissue adjacent to a normal medular like hematopoïetic tissue, showing trilieage hematopoieses, including myeloid cells, erythroid cells and megakaryocytic cells. The diagnosis of hepatic myelolipoma was proposed. This benign tumor was initially described in adrenal gland, which is the most common topography. No malignancy or bleeding complication has been described in its hepatical location...
September 18, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/28932767/patient-specific-workup-of-adrenal-incidentalomas
#5
REVIEW
Romy R de Haan, Johannes B R Visser, Ewoud Pons, Richard A Feelders, Uzay Kaymak, M G Myriam Hunink, Jacob J Visser
PURPOSE: : To develop a clinical prediction model to predict a clinically relevant adrenal disorder for patients with adrenal incidentaloma. MATERIALS AND METHODS: : This retrospective study is approved by the institutional review board, with waiver of informed consent. Natural language processing is used for filtering of adrenal incidentaloma cases in all thoracic and abdominal CT reports from 2010 till 2012. A total of 635 patients are identified. Stepwise logistic regression is used to construct the prediction model...
2017: European Journal of Radiology Open
https://www.readbyqxmd.com/read/28931294/-carney-triad
#6
L Fiala, I Kocáková, R Šimůnek, E Krejčí, I Babánková, R Šefr
Carney triad is a synchronous or metachronous association of gastric gastrointestinal stromal tumors (GIST), pulmonary chondroma and extra-adrenal paraganglioma. The majority of patients have only one or two components of the triad, all three tumors being found in only about 2% of the patients at the time of the first diagnosis. The most common combination is gastric and pulmonary tumors. We report a case of Carney triad which was diagnosed at Masaryk Memorial Cancer Institute. A 57-year-old female patient with a history of gastric resection for leiomyosarcoma at the age of 14 and with an unclear pulmonary lesion evident on chest X-ray since as early as 2003...
2017: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
https://www.readbyqxmd.com/read/28927870/management-of-incidental-liver-lesions-on-ct-a-white-paper-of-the-acr-incidental-findings-committee
#7
Richard M Gore, Perry J Pickhardt, Koenraad J Mortele, Elliot K Fishman, Jeanne M Horowitz, Claus J Fimmel, Mark S Talamonti, Lincoln L Berland, Pari V Pandharipande
The ACR Committee on Incidental Findings presents recommendations for managing liver lesions that are incidentally detected on CT. These recommendations represent an update from the liver component of the ACR 2010 white paper on managing incidental findings in the pancreas, adrenal glands, kidneys, and liver. The Liver Subcommittee-which included five abdominal radiologists, one hepatologist, and one hepatobiliary surgeon-developed this algorithm. The recommendations draw from published evidence and expert opinion and were finalized by informal iterative consensus...
September 16, 2017: Journal of the American College of Radiology: JACR
https://www.readbyqxmd.com/read/28927661/local-control-and-survival-after-image-guided-percutaneous-ablation-of%C3%A2-adrenal%C3%A2-metastases
#8
Nathan E Frenk, Dania Daye, Kemal Tuncali, Ronald S Arellano, Paul B Shyn, Stuart G Silverman, Florian J Fintelmann, Raul N Uppot
PURPOSE: To evaluate local control and survival after image-guided ablation of adrenal gland metastases. MATERIALS AND METHODS: Image-guided ablations of adrenal metastases measuring < 5 cm performed at 2 academic medical centers between July 2002 and June 2016 were analyzed. There were 51 procedures performed on 46 tumors (mean diameter 2.8 cm ± 1.1; range, 0.7-4.9 cm) in 38 patients (mean age 66 y; range, 41-80 y) with renal cell carcinoma (n = 17 patients; 45%), non-small cell lung cancer (n = 10 patients; 26%), and other primary malignancies (n = 11 patients; 29%)...
September 16, 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28927353/recurrent-metastatic-medullary-thyroid-carcinoma-a-case-of-sustained-response-to-prolonged-treatment-with-somatostatin-analogues
#9
Juana María Cano, Rocío Galán, Rafael López
BACKGROUND: Medullary thyroid carcinoma (MTC) is a rare disease. Treatment options for recurrent disease are limited. Somatostatin analogues might have a role as anticancer agents agents in MTC, although the evidence is inconclusive. PATIENT FINDINGS: A 64-year old male was diagnosed with MTC in January 2010. Total thyroidectomy with neck dissection (stage IVA, pT2pN1bM0, R1) was performed, followed by adjuvant locoregional radiotherapy. Two years later, the patient developed recurrent metastatic disease evidenced by elevated carcinoembryonic antigen (CEA) and calcitonin levels, and a positive uptake (Octreoscan®) in the right adrenal gland and pancreatic head...
September 19, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#10
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28920935/spinal-cord-injury-induced-immunodeficiency-is-mediated-by-a-sympathetic-neuroendocrine-adrenal-reflex
#11
Harald Prüss, Andrea Tedeschi, Aude Thiriot, Lydia Lynch, Scott M Loughhead, Susanne Stutte, Irina B Mazo, Marcel A Kopp, Benedikt Brommer, Christian Blex, Laura-Christin Geurtz, Thomas Liebscher, Andreas Niedeggen, Ulrich Dirnagl, Frank Bradke, Magdalena S Volz, Michael J DeVivo, Yuying Chen, Ulrich H von Andrian, Jan M Schwab
Acute spinal cord injury (SCI) causes systemic immunosuppression and life-threatening infections, thought to result from noradrenergic overactivation and excess glucocorticoid release via hypothalamus-pituitary-adrenal axis stimulation. Instead of consecutive hypothalamus-pituitary-adrenal axis activation, we report that acute SCI in mice induced suppression of serum norepinephrine and concomitant increase in cortisol, despite suppressed adrenocorticotropic hormone, indicating primary (adrenal) hypercortisolism...
September 18, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28918446/favorable-surgical-outcomes-of-aldosterone-producing-adenoma-based-on-lateralization-by-ct-imaging-and-hypokalemia-a-non-avs-based-strategy
#12
Hai Li, Jianbin Liu, Xiujuan Feng, Liehua Liu, Guohong Wei, Xiaopei Cao, Yanbing Li
PURPOSE: To test the efficacy of a strategy based on CT imaging and clinical characteristics on lateralizing origin of excess aldosterone secretion in primary aldosteronism. PATIENTS AND METHODS: Consecutive patients with diagnosed primary hyperaldosteronism from June 2006 to July 2012 in our center underwent adrenal surgeries without pre-operational adrenal venous sampling (AVS) if all the three criteria were met: (1) round- or oval-shaped occupational lesion of low density after contrast enhancement with diameter >1 cm on CT scan was located in one adrenal gland; (2) unequivocally normal contralateral adrenal gland; (3) serum potassium level lower than 3...
September 16, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28915330/impact-of-adrenal-steroids-on-regulation-of-adipose-tissue
#13
Marco Infante, Andrea Armani, Caterina Mammi, Andrea Fabbri, Massimiliano Caprio
Corticosteroids are secreted by the adrenal glands and control the functions of adipose tissue via the activation of mineralocorticoid receptor (MR) and glucocorticoid receptor (GR). In turn, adipocytes release a large variety of adipokines into the bloodstream, regulating the function of several organs and tissues, including the adrenal glands, hereby controlling corticosteroid production. In adipose tissue, the activation of the MR by glucocorticoids (GC) and aldosterone affects important processes such as adipocyte differentiation, oxidative stress, autophagic flux, adipokine expression as well as local production of GC through upregulation of the enzyme 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1)...
September 12, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28915118/delayed-diagnosis-of-proopiomelanocortin-pomc-deficiency-with-type-1-diabetes-in-a-9-year-old-girl-and-her-infant-sibling
#14
Elif Ozsu, Allison Bahm
BACKGROUND: Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair. CASE PRESENTATION: A 9-year-old girl from a consanguineous family of Iraqi origin was diagnosed with type 1 diabetes...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28911205/a-zebrafish-model-of-x-linked-adrenoleukodystrophy-recapitulates-key-disease-features-and-demonstrates-a-developmental-requirement-for-abcd1-in-oligodendrocyte-patterning-and-myelination
#15
Lauren R Strachan, Tamara J Stevenson, Briana Freshner, Matthew D Keefe, D Miranda Bowles, Joshua L Bonkowsky
X-linked adrenoleukodystrophy (ALD) is a devastating inherited neurodegenerative disease caused by defects in the ABCD1 gene and affecting peripheral and central nervous system myelin. ABCD1 encodes a peroxisomal transmembrane protein required for very long chain fatty acid (VLCFA) metabolism. We show that zebrafish (Danio rerio) Abcd1 is highly conserved at the amino acid level with human ABCD1, and during development is expressed in homologous regions including the central nervous system and adrenal glands...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28911179/deciphering-the-function-of-the-blunt-circadian-rhythm-of-melatonin-in-the-newborn-lamb-impact-on-adrenal-and-heart
#16
Maria Seron-Ferre, Claudia Torres-Farfan, Francisco J Valenzuela, Sebastian Castillo-Galan, Auristela Rojas, Natalia Mendez, Henry Reynolds, Guillermo J Valenzuela, Anibal J Llanos
Neonatal lambs, as with human and other neonates, have low arrhythmic endogenous levels of melatonin for several weeks until they start their own pineal rhythm of melatonin production at approximately 2 weeks of life. During pregnancy, daily rhythmic transfer of maternal melatonin to the fetus has important physiological roles in sheep, nonhuman primates, and rats. This melatonin rhythm provides a circadian signal and also participates in adjusting the physiology of several organs in preparation for extrauterine life...
September 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28904331/angiomyolipoma-of-the-adrenal-gland-a-report-of-two-cases-and-review-of-the-literature
#17
Obin Ghimire, Li Wenzheng, Liu Huaping, Liu Wenguang, Pei Yigang, Hou Jiale
BACKGROUND Angiomyolipoma is a benign tumor composed of blood vessels, smooth muscle cells, and adipose tissue and has been described as belonging to the group of tumors of perivascular epithelioid cell origin (PEComa), commonly found in the kidneys and strongly associated with tuberous sclerosis. Only a few cases of extra-renal angiomyolipoma have previously been reported in the literature, most commonly in the liver. Adrenal angiomyolipoma is very rare, is usually asymptomatic, and is often found incidentally, with only 14 previously reported cases identified in the literature...
September 14, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28900196/characterization-of-a-new-pathway-that-activates-lumisterol-in-vivo-to-biologically-active-hydroxylumisterols
#18
Andrzej T Slominski, Tae-Kang Kim, Judith V Hobrath, Zorica Janjetovic, Allen S W Oak, Arnold Postlethwaite, Zongtao Lin, Wei Li, Yukimasa Takeda, Anton M Jetten, Robert C Tuckey
Using LC/qTOF-MS we detected lumisterol, 20-hydroxylumisterol, 22-hydroxylumisterol, 24-hydroxylumisterol, 20,22-dihydroxylumisterol, pregnalumisterol, 17-hydroxypregnalumisterol and 17,20-dihydroxypregnalumisterol in human serum and epidermis, and the porcine adrenal gland. The hydroxylumisterols inhibited proliferation of human skin cells in a cell type-dependent fashion with predominant effects on epidermal keratinocytes. They also inhibited melanoma proliferation in both monolayer and soft agar. 20-Hydroxylumisterol stimulated the expression of several genes, including those associated with keratinocyte differentiation and antioxidative responses, while inhibiting the expression of others including RORA and RORC...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28899903/socs3-expression-in-sf1-cells-regulates-adrenal-differentiation-and-exercise-performance
#19
João Ab Pedroso, Pedro Omori Ribeiro de Mendonça, Marco As Fortes, Igor Tomaz, Vitor L Pecorali, Thais B Auricino, Ismael C Costa, Leandro B Lima, Isadora C Furigo, Debora N Bueno, Angela M Ramos-Lobo, Claudimara Ferini Pacicco Lotfi, Jose Donato
Many hormones/cytokines are secreted in response to exercise and cytokine signaling may play a pivotal role in the training adaptations. To investigate the importance of cytokine signaling during vertical ladder climbing, a resistance exercise model, we produced mice lacking SOCS3 protein exclusively in steroidogenic factor-1 (SF1) cells (SF1 Socs3 KO mice). SF1 expression is found in steroidogenic cells of the adrenal cortex and gonads, as well as in neurons of the ventromedial nucleus of the hypothalamus...
September 12, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28893861/adrenal-venous-sampling-for-primary-aldosteronism-laboratory-medicine-best-practice
#20
Gregory Kline, Daniel T Holmes
Primary aldosteronism (PA) is the most common form of secondary hypertension and is critical to identify because when caused by an aldosterone-producing adenoma (APA) or another unilateral form, it is potentially curable, and even when caused by bilateral disease, antihypertensives more specific to PA treatment can be employed (ie, aldosterone antagonists). Identification of unilateral forms is not generally accomplished with imaging because APAs may be small and elude detection, and coincidental identification of a non-functioning incidentaloma contralateral to an APA may lead to removal of an incorrect gland...
September 11, 2017: Journal of Clinical Pathology
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