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https://www.readbyqxmd.com/read/28239974/simultaneous-monitoring-of-monoamines-amino-acids-nucleotides-and-neuropeptides-by-liquid-chromatography-tandem-mass-spectrometry-and-its-application-to-neurosecretion-in-bovine-chromaffin-cells
#1
Aneta Wojnicz, José Avendaño-Ortiz, Ricardo de Pascual, Lucía Ruiz-Pascual, Antonio G García, Ana Ruiz-Nuño
The primary functions of adrenal medullary chromaffin cells are the synthesis and storage in their chromaffin vesicles of the catecholamines noradrenaline (NA) and adrenaline (AD), and their subsequent release into the bloodstream by Ca(2+) -dependent exocytosis under conditions of fear or stress (fight or flight response). Several monoamines, nucleotides and opiates, such as leucine-enkephalin (LENK) and methionine-enkephalin (MENK), are also co-stored and co-released with the catecholamines. However, other neurotransmitters have not been studied in depth...
August 2016: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/28235592/steroid-profiling-in-h295r-cells-to-identify-chemicals-potentially-disrupting-the-production-of-adrenal-steroids
#2
Petra Strajhar, David Tonoli, Fabienne Jeanneret, Raphaella M Imhof, Vanessa Malagnino, Melanie Patt, Denise V Kratschmar, Julien Boccard, Serge Rudaz, Alex Odermatt
The validated OECD test guideline 456 based on human adrenal H295R cells promotes measurement of testosterone and estradiol production as read-out to identify potential endocrine disrupting chemicals. This study aimed to establish optimal conditions for using H295R cells to detect chemicals interfering with the production of key adrenal steroids. H295R cells' supernatants were characterized by liquid chromatography-mass spectrometry (LC-MS)-based steroid profiling, and the influence of experimental conditions including time and serum content was assessed...
February 21, 2017: Toxicology
https://www.readbyqxmd.com/read/28228908/diagnosis-of-neonatal-neuroblastoma-with-postmortem-magnetic-resonance-imaging
#3
James Davis, Nathan Novotny, Jacqueline Macknis, Zeynep Alpay-Savasan, Luis F Goncalves
Postmortem magnetic resonance imaging (MRI) is emerging as a valuable tool to accompany traditional autopsy and has potential for use in cases when traditional autopsy is not possible. This case report will review the use of postmortem MRI with limited tissue sampling to differentiate between metastatic neuroblastoma and hepatoblastoma which could not be clearly differentiated with prenatal ultrasound, prenatal MRI, or emergent postnatal ultrasound. The mother presented to our institution at 27 weeks gestation after an obstetric ultrasound at her obstetrician's office identified a large abdominal mass...
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28225994/a-rare-case-of-ectopic-acth-syndrome-originating-from-malignant-renal-paraganglioma
#4
Esra Tutal, Demet Yılmazer, Taner Demirci, Evrim Cakır, Salih Sinan Gültekin, Bahadır Celep, Oya Topaloğlu, Erman Çakal
Ectopic adrenocorticotropic hormone (ACTH) syndrome is characterized by hypercortisolism due to the hypersecretion of a non-pituitary ACTH-secreting tumor leading to Cushing's syndrome. Only a few cases have been reported previously as causing ectopic ACTH related to paraganglioma. Herein, we present a case of Cushing's syndrome, in who was proved to be attributable to an ACTH-secreting renal malignant paraganglioma. A 40-year-old woman presented with a five-month history of newly diagnosed hypertension and diabetes, weakness, hyperpigmentation, oligomenorrhea, hirsutism, and acneiform lesions...
February 13, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225307/17a-hydroxylase-17-20-lyase-deficiency-clinical-and-molecular-characterization-of-eight-chinese-patients
#5
Chaoming Wu, Shanshan Fan, Yanying Qian, Yingying Zhou, Jian Jin, Zhijuan Dai, Ling Jiang
BACKGROUND: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in CYP17A1 gene. OBJECTIVE: To better understand 17OHD, a rare disease, we described the clinical features and analyzed the CYP17A1 gene in eight affected Chinese patients. METHODS: Patients with complete (7/8) or partial (1/8) 17OHD were derived from six families. The diagnosis was established according to their clinical, biochemical, hormonal and radiological characteristics...
February 22, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28222414/urinary-steroid-metabolites-in-a-case-of-florid-ectopic-cushing-s-syndrome-and-clinical-correlations
#6
Angelos Kyriacou, Karolina G Stepien, Basil Issa
A 51-year old woman was admitted with multiple cerebral, pulmonary and intra-abdominal abscesses. The combination of apparent immunosuppression, obesity, diabetes mellitus, hypertension, hypokalaemia, osteoporotic fractures and bilateral shoulder avascular necrosis led to a clinical diagnosis of Cushing's syndrome (CS). This was biochemically confirmed as follows: midnight serum cortisol 4275 nmol/L (60-250), non-suppressed overnight dexamethasone suppression test, raised salivary cortisol 716 nmol/L (5-46) and ACTH 639 ng/L (0-46)...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28222025/radiology-of-the-adrenal-incidentalomas-review-of-the-literature
#7
F A Farrugia, G Martikos, C Surgeon, P Tzanetis, E Misiakos, N Zavras, A Charalampopoulos
The term "adrenal incidentaloma" is a radiological term. Adrenal incidentalomas are adrenal tumors discovered in an imaging study that has been obtained for indications exclusive to adrenal conditions (Udelsman 2001; Linos 2003; Bulow et al. 2006; Anagnostis et al. 2009). This definition excludes patients undergoing imaging testing as part of staging and work-up for cancer (Grumbach et al. 2003; Anagnostis et al. 2009). Papierska et al. (2013) have added the prerequisite that the size of a tumor must be "greater than 1cm in diameter", in order to be called incidentaloma...
January 1, 2017: Endocrine Regulations
https://www.readbyqxmd.com/read/28216934/adrenal-myelolipoma-with-osseous-metaplasia-and-hypercortisolism
#8
Ujwal Kumar, Shivam Priyadarshi, Vinay Tomar, Rishi Raj Vohra
Adrenal myelolipomas are rare adrenal tumors generally diagnosed incidentally. A 42-year-old female reported to us with complaints of left flank pain attributable to her left ureteric calculi. On evaluation, a large adrenal mass was diagnosed along with hypercortisolism. After adrenalectomy, the histopathology revealed adrenal myelolipoma along with osseous metaplasia not reported in English literature, to the best of our knowledge till date.
January 2017: Urology Annals
https://www.readbyqxmd.com/read/28199934/mixed-corticomedullary-adrenal-carcinoma-case-report-comparison-in-features-treatment-and-prognosis-with-the-other-two-reported-cases
#9
Mhd Belal Alsabek, Riad Alhmaidi, Bader Ghazzawi, Ghiath Hamed, Alhadi Alseoudi
INTRODUCTION: Adrenal corticomedullary adenoma was reviewed in many cases in PubMed Library, While the coincidence corticomedullary adrenal carcinoma in the same gland was just described in two cases in the medical literature. Our case is the third to be reported and was treated with surgery and adjuvant chemotherapy and followed for two years. PRESENTATION OF CASE: A 50-year-old man suffered from a mass effect in the left abdominal side. While the laboratory showed a mild elevation in the levels of both serum cortisol and 24h urine cortisol, radiological images were highly suggested an adrenal malignant tumor without metastasis...
January 31, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28199739/obesity-in-children-with-congenital-adrenal-hyperplasia-in-the-minnesota-cohort-importance-of-adjusting-body-mass-index-for-height-age
#10
Kyriakie Sarafoglou, Gregory P Forlenza, O Yaw Addo, Jennifer Kyllo, Aida Lteif, P C Hindmarsh, Anna Petryk, Maria Teresa Gonzalez-Bolanos, Bradley S Miller, William Thomas
OBJECTIVES: To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH), and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index for-height-age (BMIHA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. DESIGN: Longitudinal. PATIENTS: 194 children with CAH seen from 1970-2013: 124 salt-wasting (SW); 70 simple-virilizing (SV); 102 females...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28192125/clinical-implications-for-biochemical-diagnostic-thresholds-of-adrenal-sufficiency-using-a-highly-specific-cortisol-immunoassay
#11
G A Kline, J Buse, R D Krause
OBJECTIVES: Recent guidelines recommend a diagnosis of adrenal insufficiency when a stimulated peak cortisol level falls below 500nmol/L. This may not be valid using a highly specific cortisol immunoassay or liquid chromatography-mass spectroscopy (LCMS/MS). We sought to determine the diagnostic threshold for adrenal insufficiency using a new and widely available, highly specific cortisol immunoassay. DESIGN: All patients having a dynamic test of adrenal reserve had results measured using the historical cortisol assay (Roche Cortisol) and the newer assay (Roche Cortisol II)...
February 10, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28183214/appearance-of-a-thymic-mass-after-treatment-of-cushing-s-syndrome
#12
Alessandro P Delitala, Laura Olita, Carla Piras, Rossella Cosseddu, Giorgio Bagella, Giuseppe Fanciulli
A 23-year-old woman was referred to our center with hirsutism, acne, weight gain, weakness, and irregular menses. Laboratory tests revealed increased levels of cortisol and sex hormones, and reduced adrenocorticotropic hormone levels. The patient underwent a right adrenalectomy. Pathology of the resected right adrenal gland showed an adrenal carcinoma. Computed tomography 8 months after the surgery revealed a thymic mass that was not detected preoperatively. The frequency of rebound thymic hyperplasia after normalization of hypercortisolism is not known, but possibly as high as 40%...
February 2017: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/28181818/recommendations-for-the-management-of-adrenal-incidentalomas-what-is-pertinent-for-radiologists
#13
Anju Sahdev
Adrenal incidentalomas are unsuspected, asymptomatic adrenal masses detected on imaging. Most are non-functioning benign adrenocortical adenomas, but can represent other benign lesions or lesions requiring therapeutic intervention including adrenocortical carcinoma, pheochromocytoma, hormone-producing adenoma or metastasis. This review summarises and highlights radiological recommendations within the recently issued guidelines for the management of adrenal incidentalomas from European Society of Endocrinology Clinical Practice in collaboration with European Network for Study of Adrenal Tumours...
February 9, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28181337/deficiency-of-the-sphingosine-1-phosphate-lyase-sgpl1-is-associated-with-congenital-nephrotic-syndrome-and-congenital-adrenal-calcifications
#14
Andreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, Siegfried Waldegger, Andreas Entenmann, Thomas Giner, Iris Krainer, Lukas A Huber, Michael W Hess, Yaacov Frishberg, Hila Barash, Shay Tzur, Nira Schreyer-Shafir, Rivka Sukenik-Halevy, Tania Zehavi, Annick Raas-Rothschild, Cungui Mao, Thomas Müller
We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing two homozygous truncating mutations, c.1513C>T (p.Arg505*) and c.934delC (p.Leu312Phefs*30), were identified in SGPL1 encoding sphingosine-1-phosphate lyase 1...
February 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28167369/post-dexamethasone-serum-copeptin-corresponds-to-hpa-axis-responsiveness-in-human-obesity
#15
Christian Schinke, Swen Hesse, Muriel Stoppe, Klara Meyer, Elisa Schmidt, Johannes Orthgiess, Lukas Bechmann, Anke Bresch, Michael Rullmann, Julia Luthardt, Osama Sabri, Matthias Blüher, Jürgen Kratzsch, Florian Then Bergh
CONTEXT: Increased activities of the arginine-vasopressin (AVP) system and the hypothalamic-pituitary-adrenal (HPA) axis were shown to be associated with human obesity, but relationships between these systems in obesity remain unclear. OBJECTIVES: To assess HPA axis responsiveness and its relation to serum concentrations of the AVP-surrogate copeptin in subjects with obesity (OB) in comparison to non-obesity controls (NOC). METHODS: In a cross-sectional monocentric study, thirty-nine OB (f/m 25/14; age 36...
January 16, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28165447/an-aavrh10-cag-cyp21-ha-vector-allows-persistent-correction-of-21-hydroxylase-deficiency-in-a-cyp21-mouse-model
#16
M Perdomini, C Dos Santos, C Goumeaux, V Blouin, P Bougnères
The treatment of severe forms of 21-hydroxylase deficiency (21OHD) remains unsatisfactory in many respects. As a monogenic disease caused by loss-of-function mutations, 21OHD is a potential candidate for a gene therapy (GT) approach. The first step of GT is to demonstrate positive effects of the therapeutic vector in the Cyp21(-/--) mouse model. Thus we tested the adrenal tropism of an AAVrh10-CAG-GFP vector ('GFP vector') then attempted to correct the phenotypic and biochemical alterations in Cyp21(-/-) mice using an AAVrh10-CAG-humanCYP21A2-HA vector ('CYP21 vector')...
February 6, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28155129/drug-interaction-potential-of-osilodrostat-lci699-based-on-its-effect-on-the-pharmacokinetics-of-probe-drugs-of-cytochrome-p450-enzymes-in-healthy-adults
#17
Sara Armani, Lillian Ting, Nicholas Sauter, Christelle Darstein, Anadya Prakash Tripathi, Lai Wang, Bing Zhu, Helen Gu, Dung Yu Chun, Heidi J Einolf, Swarupa Kulkarni
BACKGROUND AND OBJECTIVES: Osilodrostat (LCI699) is an adrenal steroidogenesis inhibitor currently in late-phase clinical development as a potential treatment for Cushing's disease. This study evaluated the inhibitory effect of osilodrostat on the pharmacokinetics of probe substrates of the cytochrome P450 (CYP) enzymes CYP1A2, CYP2C19, CYP2D6, and CYP3A4. METHODS: Healthy adult volunteers received single-dose cocktail probe substrates [caffeine (100 mg), omeprazole (20 mg), dextromethorphan (30 mg), and midazolam (2 mg)] followed by a 6-day washout...
February 2, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28146078/metabolomic-biomarkers-in-urine-of-cushing-s-syndrome-patients
#18
Alicja Kotłowska, Tomasz Puzyn, Krzysztof Sworczak, Piotr Stepnowski, Piotr Szefer
Cushing's syndrome (CS) is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs)...
January 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28145028/effects-of-steroidal-antiandrogen-or-5-alpha-reductase-inhibitor-on-prostate-tissue-hormone-content
#19
Yasuhiro Shibata, Seiji Arai, Yoshiyuki Miyazawa, Takahiro Shuto, Masashi Nomura, Yoshitaka Sekine, Hidekazu Koike, Hiroshi Matsui, Kazuto Ito, Kazuhiro Suzuki
BACKGROUND: The effects of a steroidal antiandrogen (AA) and 5-alpha-reductase inhibitor (5ARI) on prostate tissue hormone content and metabolism are not fully elucidated. The objective of this study is to investigate the hormone content and metabolism of the prostate tissues of patients treated with AA or 5ARI using the ultra-sensitive liquid chromatography-tandem mass spectrometry (LC-MS/MS) method. METHODS: Thirty-nine patients with benign prostatic hyperplasia (BPH) undergoing transurethral surgery were included...
February 1, 2017: Prostate
https://www.readbyqxmd.com/read/28144589/estimation-of-photon-specific-absorbed-fractions-in-digimouse-voxel-phantom-using-monte-carlo-simulation-code-fluka
#20
A Sinha, H K Patni, B M Dixit, N K Painuly, N Singh
BACKGROUND: Most preclinical studies are carried out on mice. For internal dose assessment of a mouse, specific absorbed fraction (SAF) values play an important role. In most studies, SAF values are estimated using older standard human organ compositions and values for limited source target pairs. OBJECTIVE: SAF values for monoenergetic photons of energies 15, 50, 100, 500, 1000 and 4000 keV were evaluated for the Digimouse voxel phantom incorporated in Monte Carlo code FLUKA...
December 2016: Journal of Biomedical Physics & Engineering
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