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https://www.readbyqxmd.com/read/29791178/-rare-combination-of-turner-syndrome-and-congenital-adrenal-hyperplasia-with-21-hydroxylase-deficiency-case-report
#1
Ivana Ságová, Matej Stančík, Dušan Pavai, Daniela Kantárová, Anton Vaňuga, Peter Vaňuga
Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29765355/tuberculosis-the-disrupted-immune-endocrine-response-and-the-potential-thymic-repercussion-as-a-contributing-factor-to-disease-physiopathology
#2
REVIEW
Luciano D'Attilio, Natalia Santucci, Bettina Bongiovanni, María L Bay, Oscar Bottasso
Upon the pathogen encounter, the host seeks to ensure an adequate inflammatory reaction to combat infection but at the same time tries to prevent collateral damage, through several regulatory mechanisms, like an endocrine response involving the production of adrenal steroid hormones. Our studies show that active tuberculosis (TB) patients present an immune-endocrine imbalance characterized by an impaired cellular immunity together with increased plasma levels of cortisol, pro-inflammatory cytokines, and decreased amounts of dehydroepiandrosterone...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29764864/targeting-the-hsp40-hsp70-chaperone-axis-as-a-novel-strategy-to-treat-castration-resistant-prostate-cancer
#3
Michael A Moses, Yeong Sang Kim, Genesis M Rivera-Marquez, Nobu Oshima, Matthew J Watson, Kristin Beebe, Catherine Wells, Sunmin Lee, Abbey D Zuehlke, Hao Shao, William E Bingman, Vineet Kumar, Sanjay Malhotra, Nancy L Weigel, Jason E Gestwicki, Jane Trepel, Leonard M Neckers
Castration-resistant prostate cancer (CRPC) is characterized by reactivation of androgen receptor (AR) signaling in part by elevated expression of AR splice variants (ARv) including ARv7, a constitutively active, ligand binding domain (LBD)-deficient variant whose expression has been correlated with therapeutic resistance and poor prognosis. In a screen to identify small molecule dual inhibitors of both androgen-dependent and androgen-independent AR gene signatures, we identified the chalcone C86. Binding studies using purified proteins and CRPC cell lysates revealed C86 to interact with heat shock protein 40 (Hsp40)...
May 15, 2018: Cancer Research
https://www.readbyqxmd.com/read/29755644/potential-implication-of-sgk1-dependent-activity-change-in-bv-2-microglial-cells
#4
Hayato Asai, Koichi Inoue, Eisuke Sakuma, Yoshiaki Shinohara, Takatoshi Ueki
It has recently been established that microglial activation is involved in the pathophysiology of various neurological and psychiatric disorders such as amyotrophic lateral sclerosis and schizophrenia. The pathological molecular machineries underlying microglial activation and its accelerating molecules have been precisely described in the diseased central nervous system (CNS). However, to date, the details of physiological mechanism, which represses microglial activation, are still to be elucidated. Our latest report demonstrated that serum- and glucocorticoid-inducible kinases (SGK1 and SGK3) were expressed in multiple microglial cell lines, and their inhibitor enhanced the toxic effect of lipopolysaccharide on microglial production of inflammatory substances such as TNFα and iNOS...
2018: International Journal of Physiology, Pathophysiology and Pharmacology
https://www.readbyqxmd.com/read/29742971/insufficiency-of-the-zona-glomerulosa-of-the-adrenal-cortex-and-progressive-kidney-insufficiency-following-unilateral-adrenalectomy-case-report-and-discussion
#5
Joanna Kanarek-Kucner, Adrian Stefański, Rufus Barraclough, Tomasz Gorycki, Jacek Wolf, Krzysztof Narkiewicz, Michał Hoffmann
BACKGROUND: Primary aldosteronism (PA) is the most common cause of secondary hypertension and bilateral adrenal hyperplasia (BAH) and aldosterone-producing adenoma (APA) seem to be the most common causes of PA. Unilateral adrenalectomy (UA) is the preferred treatment for APA, although the benefits are still difficult to assess. CASE REPORT: We present a case report of a 69-year old man with a 30 year history of hypertension and probably long-standing PA due to APA, with typical organ complications...
May 9, 2018: Blood Pressure
https://www.readbyqxmd.com/read/29727896/prednisolone-dosages-in-addisonian-dogs-after-integration-of-acth-measurement-into-treatment-surveillance
#6
Florian K Zeugswetter, Tanja Haninger
OBJECTIVE: To examine the prednisolone and fludrocortisone dosages in dogs with primary hypoadrenocorticism after integrating endogenous ACTH (eACTH) determination into the surveillance regimen. MATERIALS AND METHODS: The local electronic medical records database was searched for dogs with primary hypoadrenocorticism and a complete follow-up including routine eACTH measurements until stabilisation. Dogs were considered stable if they showed no signs of glucocorticoid deficiency or excess, sodium and potassium were within the laboratory reference limits and no change of prednisolone and/or fludrocortisone dosage was recommended by the clinician...
April 2018: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
https://www.readbyqxmd.com/read/29709707/consequences-of-mutations-and-inborn-errors-of-selenoprotein-biosynthesis-and-functions
#7
REVIEW
Noelia Fradejas-Villar
In its 200 years of history, selenium has been defined first as a toxic element and finally as a micronutrient. Selenium is incorporated into selenoproteins as selenocysteine (Sec), the 21st proteinogenic amino acid codified by a stop codon. Specific biosynthetic factors recode UGA stop codon as Sec. The significance of selenoproteins in human health is manifested through the identification of patients with inborn errors in selenoproteins or their biosynthetic factors. Selenoprotein N-related myopathy was the first disease identified due to mutations in a selenoprotein gene...
April 27, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29702445/insulin-treatment-partially-prevents-cognitive-and-hippocampal-alterations-as-well-as-glucocorticoid-dysregulation-in-early-onset-insulin-deficient-diabetic-rats
#8
Nathalie Marissal-Arvy, Marie-Neige Campas, Audrey Semont, Céline Ducroix-Crepy, Marie-Christine Beauvieux, Julie Brossaud, Jean-Benoit Corcuff, Jean-Christophe Helbling, Sylvie Vancassel, Anne-Karine Bouzier-Sore, Katia Touyarot, Guillaume Ferreira, Pascal Barat, Marie-Pierre Moisan
The diagnosis of Type 1 Diabetes (T1D) in ever younger children led us to question the impact of insulin deficiency or chronic hyperglycemia on cerebral development and memory performances. Here, we sought abnormalities in these traits in a model of streptozotocin-induced diabetes in juvenile rats treated or not by insulin. We made the assumption that such alterations would be related, at least in part, to excessive glucocorticoid exposition in hippocampal neurons. We have compared 3 groups of juvenile rats: controls, untreated diabetics and insulin-treated diabetics...
April 17, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29691609/effect-of-25-hydroxyvitamin-d-deficiency-and-its-interaction-with-prednisone-treatment-on-musculoskeletal-health-in-growing-mdx-mice
#9
Sung-Hee Yoon, Kim S Sugamori, Marc D Grynpas, Jane Mitchell
Duchenne muscular dystrophy (DMD) results from genetic mutations of the gene encoding dystrophin, leading to muscle inflammation and degeneration that is typically treated with glucocorticoids. DMD and its treatment with glucocorticoids result in poor bone health and high risk of fractures. Insufficient levels of 25-hydroxyvitamin D (25-hydroxy D) that may contribute to weakened bone are routinely found in DMD patients. To determine the effect of 25-hydroxy D deficiency, this study examined the effects of low vitamin D dietary intake with and without glucocorticoids on the musculoskeletal system of the Mdx mouse model of DMD...
April 24, 2018: Calcified Tissue International
https://www.readbyqxmd.com/read/29685115/acquired-modification-of-sphingosine-1-phosphate-lyase-activity-is-not-related-to-adrenal-insufficiency
#10
Gulin Sunter, Ece Oge Enver, Azad Akbarzade, Serap Turan, Pinar Vatansever, Dilek Ince Gunal, Goncagul Haklar, Abdullah Bereket, Kadriye Agan, Tulay Guran
BACKGROUND: Congenital sphingosine-1-phosphate (S1P) lyase deficiency due to biallelic mutations in SGPL1 gene has recently been described in association with primary adrenal insufficiency and steroid-resistant nephrotic syndrome. S1P lyase, on the other hand, is therapeutically inhibited by fingolimod which is an oral drug for relapsing multiple sclerosis (MS). Effects of this treatment on adrenal function has not yet been evaluated. We aimed to test adrenal function of MS patients receiving long-term fingolimod treatment...
April 23, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29678289/pathophysiology-of-melanocortin-receptors-and-their-accessory-proteins
#11
REVIEW
T V Novoselova, L F Chan, A J L Clark
The melanocortin receptors (MCRs) and their accessory proteins (MRAPs) are involved in regulation of a diverse range of endocrine pathways. Genetic variants of these components result in phenotypic variation and disease. The MC1R is expressed in skin and variants in the MC1R gene are associated with ginger hair color. The MC2R mediates the action of ACTH in the adrenal gland to stimulate glucocorticoid production and MC2R mutations result in familial glucocorticoid deficiency (FGD). MC3R and MC4R are involved in metabolic regulation and their gene variants are associated with severe pediatric obesity, whereas the function of MC5R remains to be fully elucidated...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29672221/glucocorticoid-receptor-isoform-specific-regulation-of-development-circadian-rhythm-and-inflammation-in-mice
#12
Robert H Oakley, Sivapriya Ramamoorthy, Julie F Foley, Jonathan T Busada, Nick Z Lu, John A Cidlowski
Glucocorticoids are primary stress hormones, and their synthetic derivatives are widely used clinically. The therapeutic efficacy of these steroids is limited by side effects and glucocorticoid resistance. Multiple glucocorticoid receptor (GR) isoforms are produced from a single gene by alternative translation initiation; however, the role individual isoforms play in tissue-specific responses to glucocorticoids is unknown. We have generated knockin mice that exclusively express the most active receptor isoform, GR-C3...
April 19, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29656921/controversy-pros-and-cons-screening-of-corticotropic-deficiency-after-exogenous-glucocorticoid-therapy
#13
H Lefebvre, B Goichot
No abstract text is available yet for this article.
April 12, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29576868/a-rare-cause-of-primary-adrenal-insufficiency-due-to-a-homozygous-arg188cys-mutation-in-the-star-gene
#14
Lukas Burget, Laura Audí Parera, Monica Fernandez-Cancio, Rolf Gräni, Christoph Henzen, Christa E Flück
Steroidogenic acute regulatory protein ( STAR ) is a key protein for the intracellular transport of cholesterol to the mitochondrium in endocrine organs (e.g. adrenal gland, ovaries, testes) and essential for the synthesis of all steroid hormones. Several mutations have been described and the clinical phenotype varies strongly and may be grouped into classic lipoid congenital adrenal hyperplasia (LCAH), in which all steroidogenesis is disrupted, and non-classic LCAH, which resembles familial glucocorticoid deficiency (FGD), which affects predominantly adrenal functions...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29559544/vitamin-d-is-crucial-for-maternal-care-and-offspring-social-behaviour-in-rats
#15
Nathanael J Yates, Dijana Tesic, Kirk W Feindel, Jeremy T Smith, Michael W Clarke, Celeste Wale, Rachael C Crew, Michaela D Wharfe, Andrew J O Whitehouse, Caitlin S Wyrwoll
Early life vitamin D plays a prominent role in neurodevelopment and subsequent brain function, including schizophrenic-like outcomes and increasing evidence for an association with autism spectrum disorder (ASD). Here, we investigate how early life vitamin D deficiency during rat pregnancy and lactation alters maternal care and influences neurodevelopment and affective, cognitive and social behaviours in male adult offspring. Sprague-Dawley rats were placed on either a vitamin D control (2195 IU/kg) or deficient diet (0 IU/kg) for five weeks before timed mating, and diet exposure was maintained until weaning of offspring on postnatal day (PND) 23...
May 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29529610/glucocorticoids-reduce-aberrant-o-glycosylation-of-iga1-in-iga-nephropathy-patients
#16
Petr Kosztyu, Martin Hill, Jana Jemelkova, Lydie Czernekova, Leona Raskova Kafkova, Miroslav Hruby, Karel Matousovic, Karel Vondrak, Josef Zadrazil, Ivan Sterzl, Jiri Mestecky, Milan Raska
BACKGROUND/AIMS: IgA nephropathy is associated with aberrant O-glycosylation of IgA1, which is recognized by autoantibodies leading to the formation of circulating immune complexes. Some of them, after deposition into kidney mesangium, trigger glomerular injury. In patients with active disease nonresponding to angiotensin-converting enzyme inhibitors or angiotensin II blockers, corticosteroids are recommended. METHODS: The relationship between the corticosteroid therapy and serum levels of IgA, aberrantly O-glycosylated IgA1, IgA-containing immune complexes and their mesangioproliferative activity was analyzed in IgA nephropathy patients and disease and healthy controls...
March 6, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29522979/high-dose-vitamin-d-in-addison-s-disease-regulates-t-cells-and-monocytes-a-pilot-trial
#17
Marissa Penna-Martinez, Natalie Filmann, Dimitra Bogdanou, Firouzeh Shoghi, Sabine Huenecke, Ralf Schubert, Eva Herrmann, Ulrike Koehl, Eystein S Husebye, Klaus Badenhoop
OBJECTIVES: On the basis of the immunomodulatory actions of vitamin D (VD), we investigated the effects of high-dose VD therapy over a 3 mo period on the immune response in patients with Addison's disease (AD). METHODS: This randomized, controlled, crossover trial included 13 patients with AD who received either cholecalciferol (4000 IU/d) for 3 mo followed by 3 mo placebo oil or the sequential alternative placebo followed by verum. Glucocorticoid replacement doses remained stable...
May 2018: Nutrition
https://www.readbyqxmd.com/read/29514097/estrogen-deficiency-promotes-hepatic-steatosis-via-a-glucocorticoid-receptor-dependent-mechanism-in-mice
#18
Matthew A Quinn, Xiaojiang Xu, Melania Ronfani, John A Cidlowski
Glucocorticoids (GCs) are master regulators of systemic metabolism. Intriguingly, Cushing's syndrome, a disorder of excessive GCs, phenocopies several menopause-induced metabolic pathologies. Here, we show that the glucocorticoid receptor (GR) drives steatosis in hypogonadal female mice because hepatocyte-specific GR knockout mice are refractory to developing ovariectomy-induced steatosis. Intriguingly, transcriptional profiling revealed that ovariectomy elicits hepatic GC hypersensitivity globally. Hypogonadism-induced GC hypersensitivity results from a loss of systemic but not hepatic estrogen (E2) signaling, given that hepatocyte-specific E2 receptor deletion does not confer GC hypersensitivity...
March 6, 2018: Cell Reports
https://www.readbyqxmd.com/read/29504704/a-cross-sectional-study-to-assess-the-modulation-of-wnt-inhibitors-following-anti-epileptic-drug-therapy-and-their-correlation-with-vitamin-d-and-receptor-activator-of-nuclear-factor-%C3%AE%C2%BA-b-ligand-in-indian-women-with-epilepsy
#19
Bushra Parveen, Manjari Tripathi, Divya Vohora
Long-term anti-epileptic drug (AED) therapy compromises bone health. Although vitamin D deficiency is proposed to be involved, it alone is not held responsible. This accounts for investigating other mechanisms in bone accrual. Recent studies have shown modulation of inhibitors of wnt pathway, sclerostin and dickkopf-1 (DKK-1), in glucocorticoids-induced osteoporosis. We investigated whether AED monotherapy modulates wnt inhibitors in Indian women with epilepsy. Women of age > 20-40 years with the diagnosis of epilepsy and receiving AEDs (carbamazepine, valproate and levetiracetam) for at least a year were enrolled...
March 5, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29497100/intramembranous-ossification-and-endochondral-ossification-are-impaired-differently-between-glucocorticoid-induced-osteoporosis-and-estrogen-deficiency-induced-osteoporosis
#20
Hongyang Zhang, Xiaojuan Shi, Long Wang, Xiaojie Li, Chao Zheng, Bo Gao, Xiaolong Xu, Xisheng Lin, Jinpeng Wang, Yangjing Lin, Jun Shi, Qiang Huang, Zhuojing Luo, Liu Yang
A fracture is the most dangerous complication of osteoporosis in patients because the associated disability and mortality rates are high. Osteoporosis impairs fracture healing and prognosis, but how intramembranous ossification (IO) or endochondral ossification (EO) during fracture healing are affected and whether these two kinds of ossification are different between glucocorticoid-induced osteoporosis (GIOP) and estrogen deficiency-induced osteoporosis (EDOP) are poorly understood. In this study, we established two bone repair models that exhibited repair via IO or EO and compared the pathological progress of each under GIOP and EDOP...
March 1, 2018: Scientific Reports
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