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European Journal of Endocrinology

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https://www.readbyqxmd.com/read/30407922/the-current-landscape-of-european-registries-for-rare-endocrine-conditions
#1
Salma Rashid Ali, Jillian Bryce, Martine Cools, Marta Korbonits, Johan G Beun, Domenica Taruscio, Thomas Danne, Mehul Tulsidas Dattani, Olaf Dekkers, Agnès Linglart, Irene Netchine, Anna Nordenstrom, Attila Patocs, Luca Persani, Nicole Reisch, Arelene Smyth, Zdenek Sumnik, W Edward Visser, Olaf Hiort, Alberto M Pereira, S Faisal Ahmed
OBJECTIVE: To identify cross-border international registries for rare endocrine conditions that are led from Europe and understand the extent of engagement with these registries within a network of reference centres (RC) for rare endocrine conditions. METHODS: Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. RESULTS: Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%)...
November 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30407921/radiofrequency-ablation-for-benign-thyroid-nodules-according-to-different-us-features-an-italian-multicentre-prospective-study
#2
Maurilio Deandrea, Francesca Garino, Alberto Mormile, Roberto Garberoglio, Ruth Rossetto, Nadia Bonelli, Stefano Spiezia, Massimo De Santis, Salvatore Monti, Maria Grazia Deiana, Vincenzo Toscano, Christian Cugini, Ghassan El Dalati, Paolo Limone
BACKGROUND: The purpose of this study was to confirm the generalisation of radiofrequency ablation (RFA) in the treatment of benign thyroid nodules (BTN) and to look for a correlation between final shrinkage and some US findings in a large Italian population data set. METHODS: This prospective study included 337 patients with solid cold BTN from six Italian institutions. Nodule volume, US pattern, thyroid function, symptom/cosmetic scores and complications were evaluated before and at 6 and 12 months...
November 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30407920/long-term-complications-in-patients-with-chronic-hypoparathyroidism-a-cross-sectional-study
#3
Karel David, Carolien Moyson, Dirk Vanderschueren, Brigitte Decallonne
OBJECTIVE: Chronic hypoparathyroidism and its treatment may lead to symptoms and complications affecting quality of life. We determined complications in chronic hypoparathyroid patients. DESIGN: Retrospective cross-sectional study of patients with chronic hypoparathyroidism treated with active vitamin D supplements in a tertiary care centre during the year 2015. Primary outcome parameters were history of kidney stones and seizures, and presence of renal and cerebral calcifications on imaging...
November 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30407919/novel-mutations-associated-with-inherited-human-calcium-sensing-receptor-disorders-a-clinical-genetic-study
#4
Alejandro García, Leire Madariaga, Gustavo Pérez de Nanclares, Gema Ariceta, Sonia Gaztambide, Spanish Endocrinology Group, Renaltube Group, Luis Castaño
OBJECTIVE: Molecular diagnosis is a useful diagnostic tool in calcium metabolism disorders. The calcium-sensing receptor (CaSR) is known to play a central role in the regulation of extracellular calcium homeostasis. We performed clinical, biochemical and genetic characterization of sequence anomalies in this receptor in a cohort of 130 individuals from 82 families with suspected alterations in the CASR gene, one of the largest series described. METHODS: The CASR gene was screened for mutations by polymerase chain reaction followed by direct Sanger sequencing...
November 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30407915/opiates-and-the-adrenal-the-tip-of-the-iceberg
#5
Ashley B Grossman
Opiates have been in use for millennia, and their hypogonadal effects have been readily recognised. However, their effects on the pituitary-adrenal axis have been less well described. This is especially important as there appears to be an epidemic of prescribed-opiates misuse. The present controlled study reviewed here demonstrates that at significant doses opiates administered in a Pain Clinic can often considerably suppress the hypothalamo-pituitary-adrenal axis, and such changes may be clinically important...
November 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400068/postoperative-use-of-somatostatin-analogs-and-mortality-in-patients-with-acromegaly
#6
Mark R Postma, Thalijn Lc Wolters, Gerrit van den Berg, Antonius Eduard van Herwaarden, Ac Muller-Kobold, Wim J Sluiter, Margreet A Wagenmakers, Alfons C M van den Bergh, Bruce H R Wolffenbuttel, Ad Hermus, Romana Netea-Maier, André P van Beek
OBJECTIVE: To assess the effect of somatostatin analogs (SSA) on mortality in relation to disease control of acromegaly after pituitary surgery. DESIGN: A retrospective study in two large tertiary referral centers in The Netherlands. METHODS: 319 patients with acromegaly in whom pituitary surgery was performed as primary therapy between January 1980 and July 2017 were included. Postoperative treatment with SSA was prescribed to 174 (55%) patients because of persistent or recurrent disease...
October 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400067/a-new-p-ile66serfs-93-igf2-variant-is-associated-with-pre-and-postnatal-growth-retardations
#7
Denise Rockstroh, Heike Pfäffle, Diana Le Duc, Franziska Rößler, Franziska Schlensog-Schuster, John T Heiker, Juergen Kratzsch, Wieland Kiess, Johannes Lemke, Rami Abou Jamra, Roland Pfäffle
OBJECTIVE: The IGF/IGF1R axis is involved in the regulation of human growth. Both IGF1 and IGF2 can bind to the IGF1R in order to promote growth via the downstream PI3K/AKT pathway. Pathogenic mutations in IGF1 and IGF1R determine intrauterine growth restriction and affect postnatal body growth. However, to date there are only few reports of pathogenic IGF2 mutations causing severe prenatal, as well as postnatal growth retardations. RESULTS: Here we describe a de novo c...
October 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400051/hypoglycaemia-is-associated-with-increased-risk-of-fractures-in-patients-with-type-2-diabetes-mellitus-a-cohort-study
#8
Antiopi Ntouva, Konstantinos A Toulis, Deepiksana Keerthy, Nicola J Adderley, Wasim Hanif, Rasiah Thayakaran, Krishna Gokhale, G Neil Thomas, Kamlesh Khunti, Abd Tahrani, Krishnarajah Nirantharakumar
Objective Type 2 diabetes is associated with an increased risk of fracture. Any factor that incrementally increases this risk should be taken into account when individualizing treatment. Hypoglycemia is a common complication of antidiabetes medications and suggested as a risk factor for fractures, yet its real-life clinical impact is unclear. Design A population-based, retrospective open cohort study using routinely collected data between 1st of January 1995 and 1st of May 2016 in The Health Improvement Network...
October 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400050/mechanisms-in-endocrinology-anorexia-nervosa-and-endocrinology-a-clinical-update
#9
REVIEW
René Klinkby Stoving
Anorexia nervosa is a syndrome, i.e. collections of symptoms, which it is not defined by etiology. The severe cases are intractable. The syndrome is associated with multiple, profound endocrine alterations which may be adaptive, reactive or etiologic. Adaptive changes potentially may be inappropriate in clinical settings such as inpatient intensive re-nutrition or in a setting with somatic comorbidity. Electrolyte levels must be closely monitored during the refeeding process, and the need for weight gain must be balanced against potentially fatal refeeding complications...
October 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400049/one-step-nucleic-acid-amplification-for-intraoperative-analysis-of-sentinel-lymph-node-in-papillary-thyroid-carcinoma
#10
Carmela Iglesias Felip, Carles Zafon, Jordi Temprana-Salvador, Amparo Garcia-Burillo, Xavier Serres, Enric Caubet, Isabel Roca, Jordi Mesa, Joan Castell, Jose M Fort, Ricardo Pujol-Borrell, Santiago Ramon Y Cajal, Oscar Gonzalez
OBJECTIVE: Lymphadenectomy in papillary thyroid carcinoma (PTC) is controversial. It is indicated whenever metastases have been proven before or during surgery and as a prophylactic treatment in high-risk patients. However, 30-50% of cN0 patients become pN1 postoperatively. In PTC, selective-sentinel-lymph-node-biopsy (SLNB) with conventional intraoperative analysis has 8% false-negative. One-step nucleic acid amplification (OSNA) is a molecular technique which allows real-time detection of mRNA encoding for cytokeratin 19...
October 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400048/psychological-effects-of-dopamine-agonist-treatment-in-patients-with-hyperprolactinemia-and-prolactin-secreting-adenomas
#11
Adriana G Ioachimescu, Maria Fleseriu, Andrew R Hoffman, T Brooks Vaughan Iii, Laurence Katznelson
BACKGROUND: Dopamine agonists (DAs) are the main treatment for patients with hyperprolactinemia and prolactinomas. Recently, an increasing number of reports emphasized DAs' psychological side effects, either de- novo or as exacerbations of prior psychiatric disease. METHODS: Review of prospective and retrospective studies (PubMed 1976- September 2018) evaluating the psychological profile of DAs-treated patients with hyperprolactinemia and prolactinomas. Case -series and case reports of psychiatric complications were also reviewed...
October 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400047/early-menopause-and-premature-ovarian-insufficiency-are-associated-with-increased-risk-of-type-2-diabetes-a-systematic-review-and-meta-analysis
#12
Panagiotis Anagnostis, Konstantinos Christou, Aikaterini-Maria Artzouchaltzi, Nifon K Gkekas, Nikoletta Kosmidou, Pavlos Siolos, Stavroula A Paschou, Michael Potoupnis, Eustathios Kenanidis, Eleftherios Tsiridis, Irene Lambrinoudaki, John C Stevenson, Dimitrios Goulis
OBJECTIVE/DESIGN: Menopausal transition has been associated with a derangement of glucose metabolism. However, it is not known if early menopause (EM, defined as age at menopause <45 years) or premature ovarian insufficiency (POI, defined as age at menopause <40 years) are associated with increased risk of type 2 diabetes mellitus (T2DM). To systematically investigate and meta-analyze the best evidence regarding the association of age at menopause with the risk of T2DM. METHODS: A comprehensive search was conducted in PubMed, CENTRAL and Scopus, up to January 31st, 2018...
October 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400044/increased-cardiovascular-risk-in-thyroid-cancer-patients-taking-levothyroxine-a-nationwide-cohort-study-in-korea
#13
Beomseok Suh, Dong Wook Shin, Youngmin Park, Hyunsun Lim, Jae Moon Yun, Sun Ok Song, Jin-Ho Park, Belong Cho, Eliseo Guallar
OBJECTIVE: Many thyroid cancer patients are exposed to long-term thyroid stimulating hormone (TSH) suppression, in many cases as lifetime treatment, and are consequently subjected to risk for cardiovascular disease. We investigated incidence of coronary heart disease (CHD) and ischemic stroke among thyroid cancer patients compared to matched control subjects. DESIGN: Retrospective cohort study Methods: A total of 182,419 subjects who received thyroidectomy for thyroid cancer during 2004-2012 were selected from the Korean National Health Insurance data, which covers approximately 97% of the entire Korean population...
October 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30324792/diagnosis-of-endocrine-disease-congenital-hypothyroidism-update-and-perspectives
#14
C Peters, A S P van Trotsenburg, N Schoenmakers
Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of the thyroid gland as a result of hypothalamic or pituitary pathology. Primary CH is the most common neonatal endocrine disorder, traditionally subdivided into thyroid dysgenesis (TD), referring to a spectrum of thyroid developmental abnormalities, and dyshormonogenesis, where a defective molecular pathway for thyroid hormonogenesis results in failure of hormone production by a structurally intact gland...
September 24, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400019/association-between-the-metabolically-healthy-obese-phenotype-and-the-risk-of-myocardial-infarction-results-from-the-kailuan-study
#15
Yijie Xu, Haibin Li, Anxin Wang, Zhaoping Su, Guang Yang, Yanxia Luo, Lixin Tao, Shuohua Chen, Shouling Wu, Youxin Wang, Xiuhua Guo
Objective This study aimed to determine if the metabolically healthy obese (MHO) is associated with an increased risk of myocardial infarction (MI) in Chinese population. Design The Kailuan study is a community-based prospective cohort study. Methods BMI and metabolic syndrome (MetS) were assessed in 91 866 participants without a history of MI or stroke. Participants were categorised into six mutually exclusive groups according to the BMI-MetS status: normal weight (BMI: ≤ 18.5to < 24.0 kg/m2) without MetS (MH-NW), normal weight with MetS (MUH-NW), overweight (BMI: ≤ 24...
December 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30400018/mechanisms-in-endocrinology-estrogens-in-consumer-milk-is-there-a-risk-to-human-reproductive-health
#16
REVIEW
Tomaž Snoj, Gregor Majdič
Possible effects of xenoestrogens on human health, in particular on male reproductive health, have attracted considerable attention in recent years. Cow's milk was suggested in numerous publications as one of possible sources of xenoestrogens that could affect human health. Although milk has undoubtedly many beneficial health effects and could even have a role in reducing incidence of some cancers, concerns were raised about presumably high levels of estrogens in cow's milk. In intensive farming, concentrations of estrogens in milk are higher due to long milking periods that today extend long into the pregnancy, when concentrations of estrogens in the cow's body rise...
December 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30325180/noonan-syndrome-males-display-sertoli-cell-specific-primary-testicular-insufficiency
#17
Sophie Moniez, Catherine Pienkowski, Benoit Lepage, Safouane Hamdi, Myriam Daudin, Isabelle Oliver, Béatrice Jouret, Audrey Cartault, Gwenaelle Diene, Alain Verloes, Hélène Cavé, Jean-Pierre Salles, Maithé Tauber, Armelle Yart, Thomas Edouard
Context Abnormalities in the hypothalamo-pituitary-gonadal axis have long been reported in Noonan syndrome (NS) males with only few data available in prepubertal children. Objective The aim of this study was to describe the gonadal function of NS males from childhood to adulthood. Design It is a retrospective chart review. Patients and methods A total of 37 males with a genetically confirmed diagnosis of NS were included. Clinical and genetic features, as well as serum hormone levels (LH, FSH, testosterone, anti-Müllerian hormone (AMH), and inhibin B) were analysed...
December 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30325179/influence-of-hormonal-functional-status-on-survival-in-adrenocortical-carcinoma-systematic-review-and-meta-analysis
#18
T Vanbrabant, M Fassnacht, G Assie, O M Dekkers
Objective Adrenocortical carcinoma (ACC) is a malignancy with a poor prognosis. Many publications in ACC report on risk factors for a poor outcome; one risk factor studied is hormonal hypersecretion (cortisol, sex-hormones, steroid precursors or aldosterone). The aim of this systematic review was to study the association between hormonal secretion and recurrence or mortality in ACC. Design Systematic review and meta-analysis. We searched PubMed, EMBASE and The Cochrane library (January 2018) for cohort studies examining the association between hormonal secretion on overall or recurrence-free survival in ACC...
December 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30325178/long-term-treatment-with-pegvisomant-observations-from-2090-acromegaly-patients-in-acrostudy
#19
Michael Buchfelder, Aart-Jan van der Lely, Beverly M K Biller, Susan M Webb, Thierry Brue, Christian J Strasburger, Ezio Ghigo, Cecilia Camacho-Hubner, Kaijie Pan, Joanne Lavenberg, Peter Jönsson, Juliana H Hey-Hadavi
Objectives ACROSTUDY is an international, non-interventional study of acromegaly patients treated with pegvisomant (PEGV), a growth hormone receptor antagonist and has been conducted since 2004 in 15 countries to study the long-term safety and efficacy of PEGV. This report comprises the second interim analysis of 2090 patients as of May 12, 2016. Methods Descriptive analyses of safety, pituitary imaging and outcomes on PEGV treatment up to 12 years were performed. Results Prior to starting PEGV, 96% of patients had reported surgery, radiation, medical therapy or any combinations of those...
December 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30324798/germline-mutation-landscape-of-multiple-endocrine-neoplasia-type-1-using-full-gene-next-generation-sequencing
#20
Rafael A Carvalho, Betsaida Urtremari, Alexander A L Jorge, Lucas S Santana, Elisangela P S Quedas, Tomoko Sekiya, Viviane C Longuini, Fabio L M Montenegro, Antonio M Lerario, Sergio P A Toledo, Stephen J Marx, Rodrigo A Toledo, Delmar M Lourenço
Background Loss-of-function germline MEN1 gene mutations account for 75-95% of patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated that mutations in non-coding regions of MEN1 might occur in some of the remaining patients; however, this hypothesis has not yet been fully investigated. Objective To sequence for the entire MEN1 including promoter, exons and introns in a large MEN1 cohort and determine the mutation profile. Methods and patients A target next-generation sequencing (tNGS) assay comprising 7...
December 1, 2018: European Journal of Endocrinology
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