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European Journal of Endocrinology

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https://www.readbyqxmd.com/read/28634279/in-frame-seven-amino-acid-duplication-in-aip-arose-over-the-last-3000-years-disrupts-protein-interaction-stability-and-is-associated-with-gigantism
#1
Roberto Salvatori, Serban Radian, Yoan Diekmann, Donato Iacovazzo, Alessia David, Plamena Grabovska, Giorgia Grassi, Anna-Marie Bussell, Karen Stals, Astrid Weber, Richard Quinton, Elizabeth Crowne, Valentina Corazzini, Louise A Metherell, Tara Kearney, Daniel Du Plessis, Ajay Sinha, Atik Baborie, Anne-LIse Locoq, Philippe Chanson, Olaf Ansorge, Sian Ellard, Peter J Trainer, David Balding, Mark Thomas, Marta Korbonits
OBJECTIVE: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events. DESIGN & METHODS: Observational, inferential and experimental study, including: AIP mutation testing; reconstruction of 14 AIP-region (8.3 Mbp) haplotypes; coalescent-based approximate Bayesian estimation of the time to most recent common ancestor (tMRCA) of the derived allele; forward population simulations to estimate current number of allele carriers; proposal of mutation mechanism; protein structure predictions; co-immunoprecipitation and cycloheximide chase experiments...
June 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#2
Albrecht Röpke, Frank Tüttelmann
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or azoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistently with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis...
June 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28596421/higher-glucocorticoid-replacement-doses-are-associated-with-increased-mortality-in-patients-with-pituitary-adenoma
#3
Casper Hammarstrand, Oskar Ragnarsson, Tobias Hallén, Eva Andersson, Thomas Skoglund, Anna G Nilsson, Gudmundur Johannsson, Daniel S Olsson
OBJECTIVE: Patients with secondary adrenal insufficiency (AI) have an excess mortality. The objective was to investigate the impact of the daily glucocorticoid replacement dose on mortality in patients with hypopituitarism due to non-functioning pituitary adenoma (NFPA). METHOD: Patients with NFPA were followed between years 1997- 2014 and cross-referenced with the National Swedish Death Register. Standardized mortality ratio (SMR) was calculated with the general population as reference and Cox-regression was used to analyse the mortality...
June 8, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28583942/management-of-endocrine-disease-risk-of-overtreatment-of-patients-with-adrenal-insufficiency-current-and-emerging-aspects
#4
Gherardo Mazziotti, Anna Maria Formenti, Stefano Frara, Elisa Roca, Pietro Mortini, Alfredo Berruti, Andrea Giustina
The effects of long-term replacement therapy of adrenal insufficiency (AI) are still a matter of controversy. In fact, the established glucocorticoid replacement regimens do not completely mirror the endogenous hormonal production and the monitoring of AI treatment may be a challenge for the lack of reliable biochemical markers. Consequently, several AI patients may be exposed to relative glucocorticoid excess that, even if mild, may potentially lead to development of chronic complications, such as diabetes mellitus, dyslipidemia, hypertension and fragility fractures with consequent impaired QoL and increased mortality risk...
June 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28576880/differential-regulation-of-monocarboxylate-transporter-8-expression-in-thyroid-cancer-and-hyperthyroidism
#5
Julia Badziong, Saskia Ting, Sarah Synoracki, Vera Tiedje, Klaudia Brix, Georg Brabant, Lars C Moeller, Kurt Werner Schmid, Dagmar Führer-Sakel, Denise Zwanziger
OBJECTIVE: Thyroid hormone (TH) transporters are expressed in thyrocytes and most likely/putatively may play a role in TH-release. We asked whether expression of the monocarboxylate transporter 8 (MCT8) and the L-type amino acid transporters LAT2 and LAT4 is changed with thyrocyte dedifferentiation and in hyperfunctioning thyroid tissues. DESIGN AND METHODS: Protein expression and localization of transporters was determined by immunohistochemistry in human thyroid specimen including normal thyroid tissue (NT, n=19), follicular adenoma (FA, n=44), follicular thyroid carcinoma (FTC, n=45), papillary thyroid carcinoma (PTC, n=40), anaplastic thyroid carcinoma (ATC, n=40) and Graves' disease (GD, n=50) by calculating the 'hybrid' (H) score...
June 2, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28566447/management-of-endocrine-disease-l-thyroxine-replacement-therapy-in-the-frail-elderly-a-challenge-in-clinical-practice
#6
Rosaria Maddalena Ruggeri, Francesco Trimarchi, Bernadette Biondi
The number of elderly people, mostly over 85 years (the "oldest old"), is increasing worldwide. As a consequence, accompanying morbidity and disability have been increasing, and frailty, defined as an age-related condition of decline of physiological reserves and vulnerability, represents an emerging problem. Caring for older frail people may represent a challenge, since the elderly differ significantly from younger adults in terms of comorbidity, polypharmacy, pharmacokinetics and greater vulnerability to adverse drug reactions...
May 31, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28566446/cortisol-related-metabolic-alterations-assessed-by-mass-spectrometry-assay-in-patients-with-cushing-s-syndrome
#7
Guido Di Dalmazi, Marcus Quinkler, Timo Deutschbein, Cornelia Prehn, Nada Rayes, Matthias Kroiss, Christina Maria Berr, Günter K Stalla, Martin Fassnacht, Jerzy Adamski, Martin Reincke, Felix Beuschlein
OBJECTIVE: Endogenous hypercortisolism is a chronic condition associated with severe metabolic disturbances and cardiovascular sequela. The aim of this study was to characterize metabolic alterations in patients with different degrees of hypercortisolism by mass-spectrometry-based targeted plasma metabolomic profiling and correlate the metabolomic profile with clinical and hormonal data. DESIGN: Cross-sectional study. METHODS: Subjects (n=149) were classified according to clinical and hormonal characteristics: Cushing's syndrome (n=46), adrenocortical adenomas with autonomous cortisol secretion (n=31) or without hypercortisolism (n=27)...
May 31, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28566445/muscle-strength-in-patients-with-acromegaly-at-diagnosis-and-during-long-term-follow-up
#8
Laila Maria Füchtbauer, Daniel S Olsson, Bengt-Åke Bengtsson, Lise-Lott Norrman, Katharina Sunnerhagen, Gudmundur Johannsson
OBJECTIVE: Patients with acromegaly have decreased body fat (BF), and increased extracellular water (ECW) and muscle mass. Although there is a lack of systematic studies on muscle function, it is believed that patients with acromegaly may suffer from proximal muscle weakness despite their increased muscle mass. We studied body composition and muscle function in untreated acromegaly and after biochemical remission. DESIGN: Prospective observational study Methods: Patients with acromegaly underwent measurements of muscle strength (dynamometers) and body composition (four-compartment model) at diagnosis (n=48), 1 year after surgery (n=29) and after long-term follow-up (median 11 years) (n=24)...
May 31, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28566444/prognostic-impact-of-vascular-invasion-in-differentiated-thyroid-carcinoma-a-systematic-review-and-meta-analysis
#9
Huy Gia Vuong, Tetsuo Kondo, Uyen N P Duong, Thong Quang Pham, Naoki Oishi, Kunio Mochizuki, Tadao Nakazawa, Lewis Hassell, Ryohei Katoh
The role of vascular invasion (VI) as a prognostic marker in thyroid cancer is continuously debated among investigators. In this systematic review and meta-analysis, we aimed to investigate the association of VI with tumor recurrence and patient mortality in differentiated thyroid cancers (DTCs). We searched five electronic databases and data of tumor persistence, loco-regional recurrence (LRR), distant recurrence (DR) and overall recurrence/persistence (RP) were extracted and pooled into odds ratios (OR) and corresponding 95% confidence intervals (CIs) using random effect model...
May 31, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28566443/hypoinsulinaemic-hypoketotic-hypoglycaemia-due-to-mosaic-genetic-activation-of-pi3-kinase
#10
Sarah Maria Leiter, Victoria Er Parker, Alena Welters, Rachel Knox, Nuno Rocha, Graeme R Clark, Felicity Payne, Luca Lotta, Julie Harris, Julio Guerrero-Fernández, Isabel González-Casado, Sixto García-Miñaur, Gema Gordo, N J Wareham, Victor Martínez-Glez, Michael Allison, Stephen O'Rahilly, Ines Barroso, Thomas Meissner, Susan Davies, Khalid Hussain, Karen Temple, Ana-Carol Barreda-Bonis, Sebastian Kummer, Robert Kenneth Semple
OBJECTIVE: Genetic activation of the insulin signal-transducing kinase AKT2 causes syndromic hypoketotic hypoglycaemia without elevated insulin. Mosaic activating mutations in class 1A phospatidylinositol-3-kinase (PI3K), upstream from AKT2 in insulin signalling, are known to cause segmental overgrowth, but the metabolic consequences have not been systematically reported. We assess the metabolic phenotype of 22 patients with mosaic activating mutations affecting PI3K, thereby providing new insight into the metabolic function of this complex node in insulin signal transduction...
May 31, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28566442/improving-risk-estimates-for-metabolically-healthy-obesity-and-mortality-using-a-refined-healthy-reference-group
#11
Mark Hamer, William Johnson, Joshua A Bell
OBJECTIVE: We aimed to re-examine mortality risk estimates for metabolically healthy obesity by using a 'stable' healthy non-obese referent group. DESIGN: prospective cohort study Methods: Participants were 5,427 men and women (aged 65.9 ± 9.4 years, 45.9% men) from the English Longitudinal Study of Ageing. Obesity was defined as body mass index ≥ 30 kg/m2 (vs. non-obese as below this threshold). Based on blood pressure, HDL-cholesterol, triglycerides, glycated haemoglobin, and C-reactive protein, participants were classified as 'healthy' (0 or 1 metabolic abnormality) or 'unhealthy' (≥ 2 metabolic abnormalities)...
May 31, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28566441/long-acting-pegylated-recombinant-human-growth-hormone-jintrolong%C3%A2-for-children-with-growth-hormone-deficiency-phase-ii-and-phase-iii-multicenter-randomized-studies
#12
Xiaoping Luo, Ling Hou, Li Liang, Guanping Dong, Shuixian Shen, Zhuhui Zhao, Chun Xiu Gong, Yuchuan Li, Min-Lian Du, Zhe Su, Hongwei Du, Chaoying Yan
OBJECTIVE: We assessed the efficacy and safety of a weekly PEGylated human growth hormone (PEG-rhGH) (Jintrolong®) vs. daily rhGH for children with growth hormone deficiency (GHD). DESIGN: Phase II and III, multicenter, open-label, randomized controlled trials. METHODS: 108 and 343 children with treatment-naive GHD from 6 hospitals in China were enrolled in the phase II and III studies, respectively. Patients in the phase II study were randomized 1:1:1 to weekly Jintrolong® (0...
May 31, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28566440/diagnosis-of-endocrine-disease-diagnostic-approach-to-tsh-producing-pituitary-adenoma
#13
Axel Tjörnstrand, Helena Filipsson Nyström
Thyrotropin (TSH) secreting adenomas (TSHomas) are the rarest form of pituitary adenomas and most endocrinologists will see few cases in a lifetime, if any. In most cases, the diagnostic approach is complicated and cases may be referred after being presented as a syndrome of inappropriate TSH secretion or as a pituitary mass. This review aims to cover the past, present and possible future diagnostic approaches to TSHomas, including different clinical presentations, laboratory assessment and imaging advances...
May 31, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28566439/mechanisms-in-endocrinology-the-sexually-dimorphic-role-of-androgens-in-human-metabolic-disease
#14
Lina Schiffer, Punith Kempegowda, Wiebke Arlt, Michael W O'Reilly
Female androgen excess and male androgen deficiency manifest with an overlapping adverse metabolic phenotype, including abdominal obesity, insulin resistance, type 2 diabetes mellitus, non-alcoholic fatty liver disease and an increased risk of cardiovascular disease. Here we review the impact of androgens on metabolic target tissues in an attempt to unravel the complex mechanistic links with metabolic dysfunction; we also evaluate clinical studies examining the associations between metabolic disease and disorders of androgen metabolism in men and women...
May 31, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28546232/genetic-defects-in-pediatric-onset-adrenal-insufficiency-in-japan
#15
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/28522647/prkar1a-mutation-causing-pituitary-dependent-cushing-disease-in-a-patient-with-carney-complex
#16
Florian W Kiefer, Yvonne Winhofer, Donato Iacovazzo, Marta Korbonits, Stefan Wolfsberger, Engelbert Knosp, Franz Trautinger, Romana Höftberger, Michael Krebs, Anton Luger, Alois Gessl
CONTEXT: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. CASE DESCRIPTION: Here we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28522646/mr-spectroscopy-of-hepatic-fat-and-adiponectin-and-leptin-levels-during-testosterone-therapy-in-type-2-diabetes-a-randomized-double-blinded-placebo-controlled-trial
#17
Line Velling Magnussen, Poul Erik Andersen, Anabel Diaz, Jelena Markovic Ostojic, Kurt Højlund, David M Hougaard, Anders Nymark Christensen, Torben Leo Nielsen, Marianne Skovsager Andersen
BACKGROUND: Men with type 2 diabetes mellitus (T2D) often have lowered testosterone levels and an increased risk of cardiovascular disease (CVD). Ectopic fat increases the risk of CVD, whereas subcutaneous gluteofemoral fat protects against CVD and has a beneficial adipokine secreting profile. HYPOTHESIS: Testosterone replacement therapy (TRT) may reduce the content of ectopic fat and improve the adipokine profile in men with T2D. DESIGN AND METHODS: A randomized, double-blinded, placebo-controlled study in 39 men aged 50-70 years with T2D and bioavailable testosterone levels <7...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28522645/real-life-gh-dosing-patterns-in-children-with-ghd-ts-or-born-sga-a-report-from-the-nordinet%C3%A2-international-outcome-study
#18
Oliver Blankenstein, Marta Snajderova, Joanne C Blair, Effie Pournara, Birgitte Tønnes Pedersen, Isabelle Oliver Petit
OBJECTIVE: To describe real-life dosing patterns in children with growth hormone deficiency (GHD), born small for gestational age (SGA) or with Turner syndrome (TS) receiving growth hormone (GH) and enrolled in the NordiNet® International Outcome Study (IOS; NCT00960128) between 2006 and 2016. DESIGN: This non-interventional, multicentre study included paediatric patients diagnosed with GHD (isolated [IGHD] or multiple pituitary hormone deficiency [MPHD]), born SGA or with TS and treated according to everyday clinical practice from the Czech Republic (IGHD/MPHD/SGA/TS: n=425/61/316/119), France (n=1404/188/970/206), Germany (n=2603/351/1387/411) and the UK (n=259/60/87/35)...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28512134/management-of-endocrine-disease-suicide-risk-in-patients-with-diabetes-a-systematic-review-and-meta-analysis
#19
Bin Wang, Xiaofei An, Xiaohong Shi, Jin-An Zhang
BACKGROUND: Previous studies investigating the risk of suicide in diabetes patients reported controversial findings. We did a systematic review and meta-analysis to comprehensively estimate the risk and incidence rate of suicide in diabetic patients. METHODS: Pubmed, Embase, and PsycINFO were searched for eligible studies. Random-effects meta-analysis was used to calculate the relative risk (RR) and the incidence rate of suicide in diabetes patients. We also calculated the proportion of deaths attributable to suicide among diabetes patients...
May 16, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28512133/quality-of-compounded-hydrocortisone-capsules-used-in-the-treatment-of-children
#20
Uta Neumann, Daniela Burau, Sarah Spielmann, Martin Whitaker, Richard J Ross, Charlotte Kloft, Oliver Blankenstein
Objectives: Due to the lack of paediatric licensed formulations, children are often treated with individualized pharmacy-compounded adult medication. An international web-based survey about the types of medication in children with adrenal insufficiency (AI) revealed that the majority of paediatric physicians are using pharmacy-compounded medication to treat children with AI. Observations of loss of therapy control in children with congenital adrenal hyperplasia with compounded hydrocortisone capsules and regained control after prescribing a new hydrocortisone batch led to this "real world" evaluation of pharmacy-compounded paediatric hydrocortisone capsules...
May 16, 2017: European Journal of Endocrinology
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