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Journal of Clinical Endocrinology and Metabolism

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https://www.readbyqxmd.com/read/28324003/biliary-anomalies-in-patients-with-hnf1b-diabetes
#1
Jarno Lt Kettunen, Helka Parviainen, Päivi J Miettinen, Martti Färkkilä, Marjo Tamminen, Pia Salonen, Eila Lantto, Tiinamaija Tuomi
Context: The clinical spectrum of organogenetic anomalies associated with HNF1B mutations is heterogeneous. Besides cystic kidney disease, diabetes, and various other manifestations, odd cases of mainly neonatal and post-transplant cholestasis have been described. The biliary phenotype is incompletely defined. Objective: To systematically characterize HNF1B-related anomalies in the bile ducts by imaging with MRI or MRCP. Setting and Patients: Fourteen patients with HNF1B mutations in the catchment area of the Helsinki University hospital were evaluated with upper abdominal MRI and MRCP...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323966/persistent-reduction-of-circulating-myeloid-calcifying-cells-in-acromegaly-relevance-to-the-bone-vascular-axis
#2
Gian Paolo Fadini, Francesca Dassie, Roberta Cappellari, Mariasara Persano, Saula Vigili de Kreutzenberg, Chiara Martini, Matteo Parolin, Angelo Avogaro, Roberto Vettor, Pietro Maffei
Context: Acromegaly is a systemic disease characterized by persistent bone pathology and excess cardiovascular mortality. Despite multiple concomitant risk factors, atherosclerosis does not seem to be accelerated in acromegaly. Objective: To compare the levels of circulating myeloid calcifying cells (MCCs), which promote ectopic calcification and inhibit angiogenesis, in individuals with or without acromegaly. Design: Cross-sectional case-control study...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323962/men1-dependent-breast-cancer-indication-for-early-screening-results-from-the-dutch-men1-study-group
#3
Rachel S van Leeuwaarde, Koen Dreijerink, Margreet G Ausems, Hanneke J Beijers, Olaf M Dekkers, Wouter W de Herder, Anouk N van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Petra H M Peeters, Ruud M Pijnappel, Menno R Vriens, Gerlof D Valk
Objective: Multiple Endocrine Neoplasia type 1 (MEN1) is associated with an early onset elevated breast cancer risk. This finding potentially has implications for breast cancer screening for females with MEN1. Considering the impact for females with MEN1, regarding distress and anxiety, it is necessary to assess if other risk factors are involved to identify those at greatest risk. Design: A cross-sectional case control study was performed using the Dutch MEN1 cohort, including >90% of the Dutch MEN1 population of 18 years and older...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323957/risk-profile-of-the-ret-a883f-germline-mutation-an-international-collaborative-study
#4
Jes Sloth Mathiesen, Mouhammed Amir Habra, John Howard Duncan Bassett, Sirazum Mubin Choudhury, Sabapathy Prakash Balasubramanian, Trevor A Howlett, Bruce G Robinson, Anne-Paule Gimenez-Roqueplo, Frederic Castinetti, Peter Vestergaard, Karin Frank-Raue
Context: The A883F germline mutation of the REarranged during Transfection proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC) the A883F mutation has been reclassified from the highest to high risk level, although no well-defined risk profile for this mutation exists. Objective: To create a risk profile for the A883F mutation for appropriate classification in the ATA risk levels...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324033/effect-of-moxonidine-on-the-aldosterone-renin-ratio-in-healthy-male-volunteers
#5
Ashraf H Ahmed, Richard D Gordon, Gregory Ward, Martin Wolley, Brett C McWhinney, Jacobus P Ungerer, Michael Stowasser
Background: The most popular screening test for primary aldosteronism (PA) is the plasma aldosterone/ renin ratio (ARR). Medications, dietary sodium, posture and time of day all affect renin and aldosterone levels, and can result in false negative or positive ARRs if not controlled. Most antihypertensive medications affect the ARR and can interfere with interpretation of results. To our knowledge, no study has been undertaken to evaluate the effects of moxonidine on the ARR. Methods: Normotensive, non-medicated male volunteers (n=20) underwent measurement (seated, midmorning) of plasma aldosterone (by HPLC-tandem mass spectrometry), direct renin concentration (DRC), renin activity (PRA), cortisol, electrolytes and creatinine and urinary aldosterone, cortisol, electrolytes and creatinine at baseline, and after one week of moxonidine at 0...
March 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323974/phenotypic-spectrum-in-osteogenesis-imperfecta-due-to-mutations-in-tmem38b-unravelling-a-complex-cellular-defect
#6
Emma A Webb, Meena Balasubramanian, Nadja Fratzl-Zelman, Wayne A Cabral, Hannah Titheradge, Atif Alsaedi, Vrinda Saraff, Julie Vogt, Trevor Cole, Susan Stewart, Nicola J Crabtree, Brandi M Sargent, Sonja Gamsjaeger, Eleftherios P Paschalis, Paul Roschger, Klaus Klaushofer, Nick J Shaw, Joan C Marini, Wolfgang Högler
Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical and bone material phenotype description and osteoblast differentiation studies. Design and Setting: Natural history study in paediatric research centres. Patients: Eight patients with type XIV OI. Main Outcome Measures: Clinical examinations included: bone mineral density, radiographs, echocardiography and muscle biopsy...
March 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324049/piloting-a-remission-strategy-in-type-2-diabetes-results-of-a-randomized-controlled-trial
#7
Natalia McInnes, Ada Smith, Rose Otto, Jeffrey Vandermey, Zubin Punthakee, Diana Sherifali, Kumar Balasubramanian, Stephanie Hall, Hertzel C Gerstein
Context: Medical strategies targeting remission of type 2 diabetes have not been systematically studied. Objective: This trial assessed the feasibility, safety and potential to induce remission of a short-term intensive metabolic strategy. Design: A randomized, parallel, open-label pilot trial in 83 participants followed for 52 weeks. Setting: Ambulatory care. Participants: Patients with type 2 diabetes of up to 3 years in duration...
March 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324028/a-duodenal-sdh-deficient-gastrointestinal-stromal-tumor-in-a-patient-with-a-germline-sdhb-mutation
#8
M S Elston, S Sehgal, M Dray, E Phillips, J V Conaglen, R J Clifton-Bligh, A J Gill
Context: Gastrointestinal Stromal Tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract arising from the interstitial cells of Cajal. Succinate dehydrogenase (SDH) deficient GISTs are a unique class of GIST defined by: loss of immunohistochemical expression of SDHB indicating dysfunction of the mitochondrial complex 2, lack of driver mutations in KIT and PDGFRA, and a distinctive morphology and natural history. To date, all reported SDH-deficient GISTs have arisen in the stomach...
March 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323975/muscle-sympathetic-nerve-activity-is-associated-with-elements-of-the-plasma-lipidomic-profile-in-young-asian-adults
#9
Nina Eikelis, Elisabeth A Lambert, Sarah Phillips, Carolina Ika Sari, Piyushkumar A Mundra, Jacquelyn M Weir, Kevin Huynh, Mariee T Grima, Nora E Straznicky, John B Dixon, Markus P Schlaich, Peter J Meikle, Gavin W Lambert
Background: Asian subjects are at increased cardio-metabolic risk at comparatively lower BMI compared with Caucasians. Sympathetic nervous system activation and dyslipidaemia, both characteristics of increased adiposity, appear to be related. We therefore analysed the association of muscle sympathetic nerve activity (MSNA) with the plasma lipidomic profile in young Asian and Caucasian subjects. Methods: Blood samples were collected from 101 participants of either Asian or Caucasian background, aged 18-30, BMI 28...
March 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323970/obesity-modulates-inflammation-and-lipid-metabolism-oocyte-gene-expression-a-single-cell-transcriptome-perspective
#10
Meghan L Ruebel, Matthew Cotter, Clark R Sims, Dean M Moutos, Thomas M Badger, Mario A Cleves, Kartik Shankar, Aline Andres
Context: It is hypothesized that obesity adversely affects the ovarian environment which can disrupt oocyte maturation and may further impact embryonic development. Objective: This study aimed to compare oocyte gene expression profiles and follicular fluid (FF) content from overweight/obese (OW) women and normal weight (NW) women who were undergoing fertility treatments. Design: Using single cell transcriptomic analyses, we investigated oocyte gene expression using RNA-seq...
March 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323961/normalized-early-post-operative-cortisol-and-acth-values-predict-nonremission-after-surgery-for-cushing-s-disease
#11
David Asuzu, Grégoire P Chatain, Christina Hayes, Sarah Benzo, Raven McGlotten, Meg Keil, Andrea Beri, Susmeeta T Sharma, Lynnette Nieman, Maya Lodish, Constantine Stratakis, Russell R Lonser, Edward H Oldfield, Prashant Chittiboina
Context: Perioperative increases in adrenocorticotropic hormone (ACTH) and cortisol mimic corticotropin releasing hormone (CRH) stimulation testing. This phenomenon may help identify patients with residual adenoma after transsphenoidal surgery (TSS) for Cushing's disease (CD). Objective: To predict non-remission after TSS for CD. Design: Retrospective case control study of patients treated at a single center from December 2003 till July 2016...
March 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323969/early-pregnancy-associated-plasma-protein-a-concentrations-are-associated-with-third-trimester-insulin-sensitivity
#12
Clive J Petry, Ken K Ong, Ieuan A Hughes, Carlo L Acerini, Jan Frystyk, David B Dunger
Context: First or early second trimester pregnancy-associated plasma protein-A (PAPP-A) concentrations have previously been shown to be lower in women who subsequently develop gestational diabetes (GDM) and gestational hypertension. Objective: We therefore sought to investigate why circulating PAPP-A concentrations are related to the subsequent risk of GDM and gestational hypertension. Patients, Design and Setting: We measured serum PAPP-A concentrations around week 15 of pregnancy and related these to indices derived from week 28 oral glucose tolerance tests (OGTT) and blood pressures across pregnancy in the Cambridge Baby Growth Study cohort...
March 13, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323950/breaking-up-prolonged-sitting-alters-the-postprandial-plasma-lipidomic-profile-of-adults-with-type-2-diabetes
#13
Megan S Grace, Paddy C Dempsey, Parneet Sethi, Piyushkumar A Mundra, Natalie A Mellett, Jacquelyn M Weir, Neville Owen, David W Dunstan, Peter J Meikle, Bronwyn A Kingwell
Context: Postprandial dysmetabolism in type 2 diabetes (T2D) is exacerbated by prolonged sitting, and may trigger inflammation and oxidative stress. It is unknown what impact countermeasures to prolonged sitting have on the postprandial lipidome. Objective: In this study, we investigated the effects of regular interruptions to sitting, compared to prolonged sitting, on the postprandial plasma lipidome. Design: Randomized cross-over experimental trial...
March 13, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323947/effects-of-mixed-carotenoids-on-adipokines-and-abdominal-adiposity-in-children-a-pilot-study
#14
J Atilio Canas, Amanda Lochrie, Amy Galena McGowan, Jobayer Hossain, Christopher Schettino, P Babu Balagopal
Context: Carotenoids have been implicated in the regulation of adipocyte metabolism. Objective: To compare the effects of mixed-carotenoid supplementation (MCS) vs. placebo on adipokines and the accrual of abdominal adiposity in children with obesity. Design and Setting: Randomized (1:1) double-blind, placebo-controlled intervention trial to evaluate the effects of MCS over 6 months in a subspecialty clinic. Participants: Twenty (6 male and 14 female) children with simple obesity (BMI > 90%); age: 10...
March 13, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323931/in-vitro-head-to-head-comparison-between-octreotide-and-pasireotide-in-gh-secreting-pituitary-adenomas
#15
Federico Gatto, Richard A Feelders, Sanne E Franck, Peter M van Koetsveld, Fadime Dogan, Johan M Kros, Sebastian J C M M Neggers, Aart-Jan van der Lely, Steven W J Lamberts, Diego Ferone, Leo J Hofland
Context: First-generation somatostatin analogs (SSAs), such as octreotide (OCT), are the first line medical therapy for acromegaly. Pasireotide (PAS), a newly developed SSA, has shown promising results in the treatment of acromegaly. Objective: To compare the anti-secretory effect of OCT and PAS in primary cultures of GH-secreting pituitary adenomas (GH-omas). To correlate responses with the adenoma somatostatin receptor (SSTR) profile. Design: The effect of OCT and PAS on GH (and PRL) secretion was tested in 33 GH-oma primary cultures...
March 13, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324030/early-prenatal-phthalate-exposure-sex-steroid-hormones-and-newborn-birth-outcomes
#16
Sheela Sathyanarayana, Samantha Butts, Christina Wang, Emily Barrett, Ruby Nguyen, Stephen M Schwartz, Wren Haaland, Shanna H Swan
Background: Adequate sex steroid hormone concentrations are essential for normal fetal genital development in early pregnancy. Our previous study demonstrated an inverse relationship between third trimester di-ethyl hexyl (DEHP) phthalate exposure and total testosterone (TT) concentrations. Here, we examine early pregnancy phthalates, sex steroid hormone concentrations, and newborn reproductive outcomes. Methods: We examined associations between urinary phthalate metabolite concentrations in early pregnancy and serum free testosterone (FT), TT, estrone (E1), and estradiol (E2) in 591 woman/infant dyads in The Infant Development and Environment Study; we also examined relationships between hormones and newborn genital outcomes using multiple regression models with covariate adjustment...
March 9, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323945/coordinated-regulation-among-progesterone-prostaglandins-and-egf-like-factors-in-human-ovulatory-follicles
#17
Yohan Choi, Kalin Wilson, Patrick R Hannon, Katherine L Rosewell, Mats Brännström, James W Akin, Thomas E Curry, Misung Jo
CONTEXT: In animal models, the LH surge increases progesterone (P4)/its receptor (PGR), prostaglandins (PTGs), and epidermal growth factor (EGF)-like factors that play essential roles in ovulation. However, little is known about the expression, regulation, and function of these key ovulatory mediators in humans. OBJECTIVES: To determine when and how these key ovulatory mediators are induced after the luteinizing hormone surge in human ovaries. DESIGN AND PARTICIPANTS: Timed periovulatory follicles were obtained from cycling women...
March 9, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323940/thyroid-signaling-insulin-resistance-and-type-2-diabetes-mellitus-a-mendelian-randomization-study
#18
Maxime M Bos, Roelof Aj Smit, Stella Trompet, Diana van Heemst, Raymond Noordam
CONTEXT: Increasing evidence suggests an association between thyroid stimulating hormone (TSH), free thyroxine (fT4) and deiodinases with insulin resistance and type 2 diabetes mellitus (T2D). OBJECTIVE: We examined whether TSH and fT4 levels and deiodinases are causally associated with insulin resistance and T2D using Mendelian randomization (MR). METHODS: We selected twenty genetic variants for TSH level and four for fT4 level (identified in a GWAS meta-analysis of European-ancestry cohorts) as instrumental variables for TSH and fT4 level, respectively...
March 9, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323979/thyroid-cancer-following-childhood-low-dose-radiation-exposure-a-pooled-analysis-of-nine-cohorts
#19
Jay H Lubin, M Jacob Adams, Roy Shore, Erik Holmberg, Arthur B Schneider, Michael M Hawkins, Leslie L Robison, Peter D Inskip, Marie Lundell, Robert Johansson, Ruth A Kleinerman, Florent de Vathaire, Lena Damber, Siegal Sadetzki, Margaret Tucker, Ritsu Sakata, Lene H S Veiga
Context: The increased use of diagnostic and therapeutic procedures that involve radiation raises concerns about radiation effects, particularly in children and to the radio-sensitive thyroid gland. Objectives: Evaluation of relative risk (RR) trends for thyroid radiation doses <0.2 gray; evidence of a threshold dose; and possible modifiers of the dose-response, e.g., sex, age at exposure, time since exposure. Design and setting: Pooled data from nine cohort studies of childhood external radiation exposure and thyroid cancer with individualized dose estimates, ≥1,000 irradiated subjects or ≥10 thyroid cancer cases, with data limited to individuals receiving doses <0...
March 8, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323951/assessing-energy-requirements-in-women-with-polycystic-ovary-syndrome-a-comparison-against-doubly-labeled-water
#20
Nicholas T Broskey, Monica C Klempel, L Anne Gilmore, Elizabeth F Sutton, Abby D Altazan, Jeffrey H Burton, Eric Ravussin, Leanne M Redman
Context: Weight loss is prescribed to offset the deleterious consequences of polycystic ovary syndrome (PCOS), but a successful intervention requires an accurate assessment of energy requirements. Objective: Describe energy requirements in women with PCOS and evaluate common prediction equations compared to doubly-labeled water (DLW). Design: Cross-sectional study. Setting: Academic research center. Participants: Twenty-eight weight-stable women with PCOS completed a 14-day DLW study along with measures of body composition, resting metabolic rate, and physical activity assessment by accelerometry...
March 8, 2017: Journal of Clinical Endocrinology and Metabolism
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