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Glucocorticoid deficiency

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https://www.readbyqxmd.com/read/29346764/sgk1-governs-the-reciprocal-development-of-th17-and-regulatory-t-cells
#1
Chuan Wu, Zuojia Chen, Sheng Xiao, Theresa Thalhamer, Asaf Madi, Timothy Han, Vijay Kuchroo
A balance between Th17 and regulatory T (Treg) cells is critical for immune homeostasis and tolerance. Our previous work has shown Serum- and glucocorticoid-induced kinase 1 (SGK1) is critical for the development and function of Th17 cells. Here, we show that SGK1 restrains the function of Treg cells and reciprocally regulates development of Th17/Treg balance. SGK1 deficiency leads to protection against autoimmunity and enhances self-tolerance by promoting Treg cell development and disarming Th17 cells. Treg cell-specific deletion of SGK1 results in enhanced Treg cell-suppressive function through preventing Foxo1 out of the nucleus, thereby promoting Foxp3 expression by binding to Foxp3 CNS1 region...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29345162/genetic-defect-of-a-combined-17-%C3%AE-hydroxylase-17-20-lyase-deficiency-patient-with-adrenal-crisis
#2
Yunqiang Zhang, Xuyin Zhang, Yiqun Wang, Keqin Hua, Jingxin Ding
Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual infantilism, primary amenorrhea in females (46,XX), or pseudohermaphroditism in males (46,XY). It is mainly caused by mutation in the CYP17A1 gene, which encodes a key enzyme in the steroidogenic pathway. However, these patients rarely experience adrenal crisis, due to abnormally high corticosterone levels. Here, we report a 17OHD patient who experienced clinical adrenal crisis on day 1 after gonadectomy...
January 18, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29328376/identification-of-a-novel-compound-heterozygous-mutation-of-the-cyp21a2-gene-causing-21%C3%A2-hydroxylase-deficiency-in-a-chinese-pedigree
#3
Jia Liu, Xiujuan Zhang, Haiqing Zhang, Li Fang, Jin Xu, Qingbo Guan, Chao Xu
21‑Hydroxylase deficiency (21‑OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21‑OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic characteristics of one Chinese pedigree and to identify the genotype‑phenotype association, thereby facilitating the precise diagnosis of 21‑OHD at the molecular level. Members of a Chinese family with 21‑OHD were screened for mutations in the CYP21A2 gene...
January 8, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29320972/rituximab-use-in-pediatric-lupus-anticoagulant-hypoprothrombinemia-syndrome-report-of-three-cases-and-review-of-the-literature
#4
K Cetin Gedik, S Siddique, C L Aguiar
Lupus anticoagulant hypoprothrombinemia syndrome (LA-HPS) is a rare condition that may predispose both to thrombosis and bleeding due to positive lupus anticoagulant (LA) and factor II (FII) deficiency. It can be seen in association with infections or systemic lupus erythematosus (SLE) and may require glucocorticoids (GCs) and/or immunosuppressive medications. Pediatric LA-HPS cases in the literature and three cases that received only rituximab (RTX) for LA-HPS (in addition to GCs) at two institutions between January 2010 and June 2017 were analyzed descriptively...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29306773/midlife-stress-alters-memory-and-mood-related-behaviors-in-old-age-role-of-locally-activated-glucocorticoids
#5
Nicola Wheelan, Christopher J Kenyon, Anjanette P Harris, Carolynn Cairns, Emad Al Dujaili, Jonathan R Seckl, Joyce L W Yau
Chronic exposure to stress during midlife associates with subsequent age-related cognitive decline and may increase the vulnerability to develop psychiatric conditions. Increased hypothalamic-pituitary-adrenal (HPA) axis activity has been implicated in pathogenesis though any causative role for glucocorticoids is unestablished. This study investigated the contribution of local glucocorticoid regeneration by the intracellular enzyme 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), in persisting midlife stress-induced behavioral effects in mice...
December 23, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29277706/androgen-excess-is-due-to-elevated-11-oxygenated-androgens-in-treated-children-with-congenital-adrenal-hyperplasia
#6
Clemens Kamrath, Lisa Wettstaedt, Claudia Boettcher, Michaela F Hartmann, Stefan A Wudy
Adrenal androgen excess is the hallmark of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Recently, 11-oxygenated C19 steroids, a class of highly active adrenal-derived androgens, have been described in patients with CAH. The aim of our study was to elucidate the significance of 11-oxygenated androgens in children with CAH. We retrospectively analysed 190 daily urinary excretion rates of glucocorticoid-, 17α-hydroxyprogesterone (17OHP)-, and androgen metabolites determined by gas chromatography-mass spectrometry of 99 children aged 3...
December 23, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29273683/functional-implications-of-corticosteroid-binding-globulin-n-glycosylation
#7
Marc Simard, Caroline Underhill, Geoffrey L Hammond
Corticosteroid-binding globulin (CBG) is a plasma carrier of glucocorticoids. Human and rat CBGs have six N-glycosylation sites. Glycosylation of human CBG influences its steroid-binding activity and there are N-glycosylation sites in the reactive center loops (RCLs) of human and rat CBGs. Proteolysis of the RCL of human CBG causes a structural change that disrupts steroid binding. We now show that mutations of conserved N-glycosylation sites at N238 in human CBG and N230 in rat CBG disrupt steroid binding...
December 22, 2017: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/29251794/11%C3%AE-hsd1-deficiency-or-inhibition-enhances-hepatic-myofibroblast-activation-in-murine-liver-fibrosis
#8
X Zou, P Ramachandran, T J Kendall, A Pellicoro, E Dora, R L Aucott, K Manwani, T Y Man, K E Chapman, N C Henderson, S J Forbes, S P Webster, J P Iredale, B R Walker, Z Michailidou
A hallmark of chronic liver injury is fibrosis, with accumulation of extracellular matrix orchestrated by activated hepatic stellate cells (HSCs). Glucocorticoids (GC) limit HSC activation in vitro and tissue GC levels are amplified by 11beta-hydroxysteroid dehydrogenase-1 (11βHSD1). Although 11βHSD1 inhibitors have been developed for type 2 diabetes mellitus and improve diet-induced fatty liver in various mouse models, effects on the progression and/or resolution of liver injury and consequent fibrosis have not been characterised...
December 18, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29249133/serum-25-hydroxyvitamin-d-levels-in-children-with-recurrent-wheezing-and-relation-to-the-phenotypes-and-frequency-of-wheezing
#9
M Dogru, L P Seren
Background. Recurrent wheezing may be related to various reasons. There is a lack of knowledge about the effect of vitamin D status in the children with recurrent wheezing. The aim of this study is to compare the level of vitamin D between recurrent wheezing children and healthy controls, and to investigate the relationship between vitamin D status and the clinical parameters of recurrent wheezing in preschool children. Methods. One hundred-ten children followed up in our hospital with recurrent wheezing were included in the study...
November 2017: European Annals of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29248982/a-case-series-of-atypical-features-of-patients-with-biopsy-proven-isolated-igg4-related-hypophysitis-and-normal-serum-igg4-levels
#10
Kevin C J Yuen, Kelley J Moloney, Jennifer U Mercado, Steven Rostad, Brendan J McCullough, Zachary N Litvack, Johnny B Delashaw, Marc R Mayberg
BACKGROUND: IgG4-related hypophysitis is a rare clinical entity that forms part of an emerging group of multi-organ IgG4-related fibrosclerotic systemic diseases. The rare prevalence of the disease, presenting features that overlap with other sellar pathologies, and variable imaging features can make preoperative identification challenging. PURPOSE AND METHODS: We report three cases of isolated IgG4-related hypophysitis with atypical clinical and imaging features that mimicked those of pituitary apoplexy and other sellar lesions...
December 16, 2017: Pituitary
https://www.readbyqxmd.com/read/29243066/serum-glucocorticoid-regulated-kinase-1-contributes-to-mechanical-stretch-induced-inflammatory-responses-in-cardiac-fibroblasts
#11
Wenqiang Gan, Tiegang Li, Jingyuan Ren, Chenghe Li, Ziliang Liu, Min Yang
Excessive mechanical stretch induces production of proinflammatory mediators in cardiac fibroblasts, which could act as inflammatory supporter cells in heart failure. Accumulation evidence and our previous studies suggest that serum-glucocorticoid-regulated kinase 1 (SGK1) contributes to cardiac remodeling and fibrosis, development of heart failure. However, the role and mechanism of SGK1 in mechanical stretch-induced inflammation of cardiac fibroblasts remain unclear. Here, cardiac fibroblasts isolated from wild-type (WT) and SGK1 knockout (SGK1-/-) mice were stimulated by 18% cyclic stretch, under static condition as the control...
December 14, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29237697/triple-a-syndrome-a-wide-spectrum-of-adrenal-dysfunction
#12
Florence Roucher-Boulez, Aude Brac de la Perrière, Aude Jacquez, Delphine Chau, Laurence Guignat, Christophe Vial, Yves Morel, Marc Nicolino, Gerald Raverot, Michel Pugeat
Objective: Triple-A or Allgrove syndrome is an autosomal recessive disorder due to mutations in the AAAS gene which encodes a nucleoporin named ALADIN. It is characterized by a classical clinical triad: Alacrima, Achalasia and Adrenal Insufficiency, the canonic symptoms that are associated with progressive peripheral neuropathy. Only a few cohorts have been reported. The objective of the present study was to characterize the various spectra of adrenal function in Triple-A patients. Methods: A retrospective clinical and biological monitoring of 14 patients (10 families) was done in a single multidisciplinary French center...
December 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29230843/cardiac-function-in-pediatric-patients-with-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#13
Christiaan F Mooij, Milanthy S Pourier, Gert Weijers, Chris L de Korte, Zina Fejzic, Hedi L Claahsen van der Grinten, Livia Kapusta
BACKGROUND: Hyperandrogenism and exogenous glucocorticoid excess may cause unfavorable changes in the cardiovascular risk profile of patients with congenital adrenal hyperplasia (CAH). OBJECTIVE: To evaluate the cardiac function in pediatric patients with CAH. PATIENTS AND METHODS: 27 pediatric patients with CAH, aged 8-16 years, were evaluated by physical examination, electrocardiogram (ECG), conventional echocardiography, tissue Doppler imaging and two-dimensional (2D) myocardial strain (rate) imaging...
December 11, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29220613/fully-automated-pipetting-sorting-system-for-different-morphological-phenotypes-of-zebrafish-embryos
#14
Helmut Breitwieser, Thomas Dickmeis, Marcel Vogt, Marco Ferg, Christian Pylatiuk
Systems biology methods, such as transcriptomics and metabolomics, require large numbers of small model organisms, such as zebrafish embryos. Manual separation of mutant embryos from wild-type embryos is a tedious and time-consuming task that is prone to errors, especially if there are variable phenotypes of a mutant. Here we describe a zebrafish embryo sorting system with two cameras and image processing based on template-matching algorithms. In order to evaluate the system, zebrafish rx3 mutants that lack eyes due to a patterning defect in brain development were separated from their wild-type siblings...
December 1, 2017: SLAS Technology
https://www.readbyqxmd.com/read/29213133/plasma-metabolomic-profile-varies-with-glucocorticoid-dose-in-patients-with-congenital-adrenal-hyperplasia
#15
Mohammad A Alwashih, David G Watson, Ruth Andrew, Roland H Stimson, Manal Alossaimi, Gavin Blackburn, Brian R Walker
Glucocorticoid replacement therapy is the mainstay of treatment for congenital adrenal hyperplasia (CAH) but has a narrow therapeutic index and dose optimisation is challenging. Metabolomic profiling was carried out on plasma samples from 117 adults with 21-hydroxylase deficiency receiving their usual glucocorticoid replacement therapy who were part of the CaHASE study. Samples were profiled by using hydrophilic interaction chromatography with high resolution mass spectrometry. The patients were also profiled using nine routine clinical measures...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29211034/glucocorticoids-improve-myogenic-differentiation-in-vitro-by-suppressing-the-synthesis-of-versican-a-transitional-matrix-protein-overexpressed-in-dystrophic-skeletal-muscles
#16
Natasha McRae, Leonard Forgan, Bryony McNeill, Alex Addinsall, Daniel McCulloch, Chris Van der Poel, Nicole Stupka
In Duchenne muscular dystrophy (DMD), a dysregulated extracellular matrix (ECM) directly exacerbates pathology. Glucocorticoids are beneficial therapeutics in DMD, and have pleiotropic effects on the composition and processing of ECM proteins in other biological contexts. The synthesis and remodelling of a transitional versican-rich matrix is necessary for myogenesis; whether glucocorticoids modulate this transitional matrix is not known. Here, versican expression and processing were examined in hindlimb and diaphragm muscles from mdx dystrophin-deficient mice and C57BL/10 wild type mice...
December 6, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29202451/akt3-inhibits-adipogenesis-and-protects-from-diet-induced-obesity-via-wnk1-sgk1-signaling
#17
Liang Ding, Lifang Zhang, Sudipta Biswas, Rebecca C Schugar, J Mark Brown, Tatiana Byzova, Eugene Podrez
Three Akt isoforms, encoded by 3 separate genes, are expressed in mammals. While the roles of Akt1 and Akt2 in metabolism are well established, it is not yet known whether Akt3 plays a role in metabolic diseases. We now report that Akt3 protects mice from high-fat diet-induced obesity by suppressing an alternative pathway of adipogenesis via with no lysine protein kinase-1 (WNK1) and serum/glucocorticoid-inducible kinase 1 (SGK1). We demonstrate that Akt3 specifically phosphorylates WNK1 at T58 and promotes its degradation via the ubiquitin-proteasome pathway...
November 16, 2017: JCI Insight
https://www.readbyqxmd.com/read/29196164/glucocorticoids-indirectly-decrease-colon-cancer-cell-proliferation-and-invasion-via-effects-on-cancer-associated-fibroblasts
#18
Zuzanna Drebert, Elly De Vlieghere, Jolien Bridelance, Olivier De Wever, Karolien De Bosscher, Marc Bracke, Ilse M Beck
Cancer-associated fibroblasts (CAFs) support cancer growth, invasion, and metastasis. Glucocorticoids (GCs), drugs often administered together with chemotherapy, are steroidal ligands of the glucocorticoid receptor (GR), a transcription factor which upon activation regulates expression of multiple genes involved in suppression of inflammation. We have previously shown that in dexamethasone (Dex)-treated CAFs derived from colon cancer, production and secretion of several factors related to cancer progression, such as tenascin C (TNC) and hepatocyte growth factor (HGF), were strongly suppressed...
November 28, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/29179176/neurons-erythrocytes-and-beyond-the-diverse-functions-of-chorein
#19
Florian Lang, Lisann Pelzl, Ludger Schöls, Andreas Hermann, Michael Föller, Tilman E Schäffer, Christos Stournaras
Chorea-acanthocytosis (ChAc), a neurodegenerative disease, results from loss-of-function-mutations of the chorein-encoding gene VPS13A. Affected patients suffer from a progressive movement disorder including chorea, parkinsonism, dystonia, tongue protrusion, dysarthria, dysphagia, tongue and lip biting, gait impairment, progressive distal muscle wasting, weakness, epileptic seizures, cognitive impairment, and behavioral changes. Those pathologies may be paralleled by erythrocyte acanthocytosis. Chorein supports activation of phosphoinositide-3-kinase (PI3K)-p85-subunit with subsequent up-regulation of ras-related C3 botulinum toxin substrate 1 (Rac1) activity, p21 protein-activated kinase 1 (PAK1) phosphorylation, and activation of several tyrosine kinases...
November 28, 2017: Neuro-Signals
https://www.readbyqxmd.com/read/29174931/group%C3%A2-1-epidemiology-of-primary-and-secondary-adrenal-insufficiency-prevalence-and-incidence-acute-adrenal-insufficiency-long-term-morbidity-and-mortality
#20
Olivier Chabre, Bernard Goichot, Delphine Zenaty, Jérôme Bertherat
The prevalence of primary adrenal insufficiency is estimated at between 82-144/million, with auto-immunity being the most common cause in adults and genetic causes, especially enzyme defects, being the most common cause in children. The prevalence of secondary adrenal deficiency is estimated to be between 150-280/million. The most frequent occurrence is believed to be corticosteroid-induced insufficiency, despite the incidence of clinically relevant deficiency after cessation of glucocorticoid treatment being widely debated...
November 23, 2017: Annales D'endocrinologie
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