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Glucocorticoid deficiency

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https://www.readbyqxmd.com/read/28582566/non-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-revisited-an-update-with-a-special-focus-on-adolescent-and-adult-women
#1
Enrico Carmina, Didier Dewailly, Héctor F Escobar-Morreale, Fahrettin Kelestimur, Carlos Moran, Sharon Oberfield, Selma F Witchel, Ricardo Azziz
BACKGROUND: Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by androgen excess. OBJECTIVE AND RATIONALE: We conducted a systematic review and critical assessment of the available evidence pertaining to the epidemiology, pathophysiology, diagnosis and management of NCAH. A meta-analysis of epidemiological data was also performed. SEARCH METHODS: Peer-reviewed studies evaluating NCAH published up to October 2016 were reviewed...
June 5, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28580390/glucocorticoid-receptor-mediated-cis-repression-of-osteogenic-genes-requires-brm-swi-snf
#2
Michael J Pico, Sharareh Hashemi, Fuhua Xu, Kevin Hong Nguyen, Robert Donnelly, Elizabeth Moran, Stephen Flowers
Glucocorticoids are an effective therapy for a variety of severe inflammatory and autoimmune disorders; however, the therapeutic use of glucocorticoids is severely limited by their negative side effects, particularly on osteogenesis. Glucocorticoids regulate transcription by binding to the glucocorticoid receptor (GR), which then binds the promoters of target genes to induce either activation or repression. The gene activation effects of nuclear hormone receptors broadly require the cooperation of the chromatin remodeling complex known as SWI/SNF, which is powered by an ATPase core...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28577243/review-on-the-biological-mechanisms-associated-with-depo-provera-and-hiv-1-risk-acquisition-in-women
#3
REVIEW
Funanani Takalani, Ndumiso N Mhlongo, Suri Moonsamy, Mahmoud E S Soliman
Women constitute more than 50% out of millions of individuals infected with HIV-1, the major causative agent of acquired immune deficiency syndrome. About 40% of HIV-1 infections have been reported to initiate in the female reproductive tract. However, the mechanisms through which these infections are spread are poorly understood; hence, there is now a major concern in women who use long acting injectable hormonal contraceptives, particularly Depo-Provera and an increase of HIV-1 risk acquisition. Based on literature, Depo-Provera has an affinity for both the glucocorticoid receptor and the progesterone receptor in the female reproductive tract...
June 3, 2017: Cell Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28576284/congenital-adrenal-hyperplasia
#4
REVIEW
Diala El-Maouche, Wiebke Arlt, Deborah P Merke
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that require hormone replacement therapy. Presentations vary from neonatal salt wasting and atypical genitalia, to adult presentation of hirsutism and irregular menses...
May 30, 2017: Lancet
https://www.readbyqxmd.com/read/28553748/mini-review-toxic-tendinopathy
#5
Brad Bolon
Toxic tendinopathy is a rare but reproducible complication in humans, given agents of four drug classes: aromatase inhibitors, fluoroquinolone antibiotics, glucocorticoids (long-term regimens), and statins. Toxic tendinopathy in humans has been linked less consistently to treatment with anabolic steroids, antiretroviral agents (mainly protease inhibitors), metalloproteinase inhibitors (MMPI), and isotretinoin. Classic drug-induced tendinopathies appear as "tendinosis" (i.e., progressive tendon degeneration without inflammation), although cases associated with aromatase inhibitors exhibit mainly tenosynovitis...
January 1, 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/28552588/vitamin-d-supplementation-during-pregnancy-effect-on-the-neonatal-immune-system-in-a-randomized-controlled-trial
#6
Eve Hornsby, Paul E Pfeffer, Nancy Laranjo, William Cruikshank, Marina Tuzova, Augusto A Litonjua, Scott T Weiss, Vincent J Carey, George O'Connor, Catherine Hawrylowicz
BACKGROUND: Programming of the immune system during fetal development can influence asthma-related risk factors and outcomes in later life. Vitamin D is a well-recognized immune modulator, and deficiency of this nutrient during pregnancy is hypothesized to influence disease development in offspring. OBJECTIVE: We sought to investigate the effect on neonatal immunity of maternal supplementation with 4400 IU/d vitamin D3 during the second and third trimesters of pregnancy by using a subset of cord blood samples from a randomized, double-blind, placebo-controlled clinical trial (the Vitamin D Antenatal Asthma Reduction Trial)...
May 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28549589/serum-retinol-levels-and-neonatal-outcomes-in-preterm-infants
#7
Hsing-Jin Chen, Chyong-Hsin Hsu, Bor-Luen Chiang
BACKGROUND: Glucocorticoids are frequently administered to preterm infants, both antenatally and postnatally; however, the effect on serum retinol levels has not been determined. The risk of bronchopulmonary dysplasia is increased in premature infants with low retinol concentrations. OBJECTIVES: Our purpose was to determine the effect of glucocorticoid administration on serum retinol levels in preterm infants. METHODS: All infants <1250 g or <29 weeks' gestation admitted to the neonatal intensive care unit within 48 h of birth were eligible for inclusion...
May 23, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28548945/soluble-antigens-from-the-neurotropic-pathogen-angiostrongylus-cantonensis-directly-induce-thymus-atrophy-in-a-mouse-model
#8
Zhen Liu, Dong-Ming Su, Zi-Long Yu, Feng Wu, Rui-Feng Liu, Shi-Qi Luo, Zhi-Yue Lv, Xin Zeng, Xi Sun, Zhong-Dao Wu
The nematode Angiostrongylus cantonensis (A.C.) is a neurotropic pathogen; stage-III larva invade the human (non-permissive host) central nervous system (CNS) to cause eosinophilic meningitis or meningoencephalitis accompanied by immunosuppression. In an A.C.-infectedmouse (another non-permissive host) model, CNS damage-associated T cell immune deficiency and severe inflammation were proposed to result from activation of the hypothalamic-pituitary-adrenal (HPA) axis. However, glucocorticoids are anti-inflammatory agents...
May 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28546232/genetic-defects-in-pediatric-onset-adrenal-insufficiency-in-japan
#9
Naoko Amano, Satoshi Narumi, Mie Hayashi, Masaki Takagi, Kazuhide Imai, Toshirou Nakamura, Rumi Hachiya, Goro Sasaki, Keiko Homma, Tomohiro Ishii, Tomonobu Hasegawa
CONTEXT: Most patients with pediatric-onset primary adrenal insufficiency (PAI), such as 21-hydroxylase deficiency, can be diagnosed by measuring the urine or serum levels of steroid metabolites. However, the etiology is often difficult to determine in a subset of patients lacking characteristic biochemical findings. OBJECTIVE: To assess the frequency of genetic defects in Japanese children with biochemically uncharacterized PAI, and characterize the phenotypes of mutation-carrying patients...
May 25, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28540625/pituitary-dysfunction-in-granulomatosis-with-polyangiitis
#10
REVIEW
Daniela Esposito, Penelope Trimpou, Dario Giugliano, Mats Dehlin, Oskar Ragnarsson
PURPOSE: Granulomatosis with polyangiitis (GPA) is a multisystem disease, characterized by necrotizing small-vessel vasculitis, which mainly affects the respiratory tract and the kidneys. Pituitary involvement in GPA is rare, present in about 1% of all cases of GPA. To date, only case reports or small case series have been published. Herein we report clinical features, imaging findings, treatment and outcomes in three patients with GPA-related pituitary dysfunction (PD). METHODS: A retrospective analysis of three cases of GPA-related PD was conducted, followed by systematic review of the English medical literature using PubMed...
May 24, 2017: Pituitary
https://www.readbyqxmd.com/read/28539411/substrate-binding-by-the-yeast-hsp110-nucleotide-exchange-factor-and-molecular-chaperone-sse1-is-not-obligate-for-its-biological-activities
#11
Veronica M Garcia, Nadinath B Nillegoda, Bernd Bukau, Kevin A Morano
The highly conserved heat-shock protein 70 (Hsp70) is a ubiquitous molecular chaperone essential for maintaining cellular protein homeostasis. The related protein Hsp110 (Sse1/Sse2 in Saccharomyces cerevisiae) functions as a nucleotide exchange factor (NEF) to regulate the protein folding activity of Hsp70. Hsp110/Sse1 can additionally prevent protein aggregation in vitro via its substrate binding domain (SBD), but the cellular roles of this "holdase" activity remain poorly defined. We generated and characterized an Sse1 mutant that separates, for the first time, its nucleotide exchange and substrate binding functions...
May 24, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28527581/nuclear-receptors-in-skeletal-homeostasis
#12
Hao Zuo, Yihong Wan
Nuclear receptors are a family of transcription factors that can be activated by lipophilic ligands. They are fundamental regulators of development, reproduction, and energy metabolism. In bone, nuclear receptors enable bone cells, including osteoblasts, osteoclasts, and osteocytes, to sense their dynamic microenvironment and maintain normal bone development and remodeling. Our views of the molecular mechanisms in this process have advanced greatly in the past decade. Drugs targeting nuclear receptors are widely used in the clinic for treating patients with bone disorders such as osteoporosis by modulating bone formation and resorption rates...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28522730/11%C3%AE-hsd1-suppresses-cardiac-fibroblast-cxcl2-cxcl5-and-neutrophil-recruitment-to-the-heart-post-mi
#13
Katie J Mylonas, Neil A Turner, Sumia A Bageghni, Christopher J Kenyon, Christopher I White, Kieran McGregor, Robert A Kimmitt, Richard Sulston, Valerie Kelly, Brian R Walker, Karen E Porter, Karen E Chapman, Gillian A Gray
We have previously demonstrated that neutrophil recruitment to the heart following myocardial infarction (MI) is enhanced in mice lacking 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) that regenerates active glucocorticoid within cells from intrinsically inert metabolites. The present study aimed to identify the mechanism of regulation. In a mouse model of MI, neutrophil mobilization to blood and recruitment to the heart were higher in 11β-HSD1-deficient (Hsd11b1(-)(/)(-) ) relative to wild-type (WT) mice, despite similar initial injury and circulating glucocorticoid...
June 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28502879/genetic-deletion-of-p-glycoprotein-alters-stress-responsivity-and-increases-depression-like-behavior-social-withdrawal-and-microglial-activation-in-the-hippocampus-of-female-mice
#14
Natalia I Brzozowska, Kristie L Smith, Cilla Zhou, Peter M Waters, Ligia Menezes Cavalcante, Sarah V Abelev, Michael Kuligowski, David J Clarke, Stephanie M Todd, Jonathon C Arnold
P-glycoprotein (P-gp) is an ABC transporter expressed at the blood brain barrier and regulates the brain uptake of various xenobiotics and endogenous mediators including glucocorticoid hormones which are critically important to the stress response. Moreover, P-gp is expressed on microglia, the brain's immune cells, which are activated by stressors and have an emerging role in psychiatric disorders. We therefore hypothesised that germline P-gp deletion in mice might alter the behavioral and microglial response to stressors...
May 10, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28472507/a-case-report-of-hypoglycemia-and-hypogammaglobulinemia-david-syndrome-in-a-patient-with-a-novel-nfkb2-mutation
#15
Rayhan A Lal, Laura K Bachrach, Andrew R Hoffman, Jingga Inlora, Shannon Rego, Michael P Snyder, David B Lewis
Context: DAVID syndrome (Deficient Anterior pituitary with Variable Immune Deficiency) is a rare disorder in which children present with symptomatic ACTH deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, termed common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as either a cause of DAVID syndrome or of CVID without clinical hypopituitarism. However, to the best of our knowledge there have been no cases in which the endocrinopathy has presented in the absence of a prior clinical history of CVID...
May 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28472487/11-oxygenated-androgens-are-biomarkers-of-adrenal-volume-and-testicular-adrenal-rest-tumors-in-21-hydroxylase-deficiency
#16
Adina F Turcu, Ashwini Mallappa, Meredith Elman, Nilo A Avila, Jamie Marko, Hamsini Rao, Alexander Tsodikov, Richard J Auchus, Deborah P Merke
Context: Patients with 21-hydroxylase deficiency (21OHD) suffer from long-term complications, which might result from poor disease control and/or glucocorticoid overtreatment. Lack of optimal biomarkers has made it challenging to tailor therapy and to predict long-term outcomes. Objective: To identify biomarkers of disease control and long-term complications in 21OHD. Setting and participants: Cross-sectional study of 114 patients (70 males), ages 2 to 67 (median, 15) years, seen in a tertiary referral center...
May 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28458768/early-diagnosis-in-familial-glucocorticoid-deficiency
#17
Fatima Al Jneibi, Tawfiq Hen, Jaishen Rajah, Rajendran Nair
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive condition, characterized by marked atrophy of zona fasiculata and reticalaris with preservation of zona glomerulosa. Out of more than 50 published cases, 18 patients died as a result of glucocorticoid insufficiency. The main objective of this report is to emphasize the early diagnosis and treatment in our 17 month-old patient. Her presenting features following an upper respiratory tract infection were hypoglycemia, seizures as well as deep hyperpigmentation of the limbs and lips...
2017: Dermato-endocrinology
https://www.readbyqxmd.com/read/28450305/mechanisms-in-endocrinology-update-on-pathogenesis-of-primary-adrenal-insufficiency-beyond-steroid-enzyme-deficiency-and-autoimmune-adrenal-destruction
#18
Christa Flueck
Primary adrenal insufficiency (PAI) is potentially life threatening, but rare. In children genetic defects prevail, while adults suffer mostly from acquired forms. The spectrum of genetic defects has increased in recent years with the use of next generation sequencing methods and reaches now far beyond genetic defects in known enzymes of steroidogenesis. Cofactor disorders such as P450 oxidoreductase (POR) deficiency manifesting as a complex form of congenital adrenal hyperplasia with a broad clinical phenotype have come to the forth...
April 27, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28439619/association-between-bone-mineral-density-muscle-strength-and-vitamin-d-status-in-patients-with-myasthenia-gravis-a-cross-sectional-study
#19
Y Guan, F Lv, Y Meng, D Ma, X Xu, Y Song, O Wang, Y Jiang, W Xia, X Xing, J Zhang, M Li
Myasthenia gravis (MG) patients had low proximal hip BMD, which could be explained by reduced muscle strength, elevated bone resorption markers, vitamin D deficiency, and increased PTH levels in those with MG compared to controls. INTRODUCTION: Muscle strength is closely correlated with bone mineral density (BMD) and vitamin D status. Here, we evaluated muscle strength, BMD, and vitamin D status in a large sample of Chinese patients with MG. METHODS: In this cross-sectional survey, 86 patients with MG without glucocorticoid treatment and 86 healthy controls were included...
April 24, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28423475/primary-lymphocytic-hypophysitis-clinical-characteristics-and-treatment-of-50-cases-in-a-single-centre-in-china-over-18%C3%A2-years
#20
Shuchang Wang, Linjie Wang, Yong Yao, Feng Feng, Hongbo Yang, Zhiyong Liang, Kan Deng, Hui You, Jian Sun, Bing Xing, Zimeng Jin, Renzhi Wang, Hui Pan, Huijuan Zhu
OBJECTIVE: Primary lymphocytic hypophysitis (LYH) is rare, and it is often evaluated in a small case series. This study aimed to describe the diagnosis and treatment of primary LYH in a larger cohort. DESIGN: A retrospective study of the diagnosis and treatment of primary LYH was conducted at Peking Union Medical College Hospital from 1999 to 2016. PATIENTS: Fifty patients (28 histologically diagnosed and 22 clinically-diagnosed) were eligible for inclusion...
April 19, 2017: Clinical Endocrinology
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