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Journal of Clinical Endocrinology and Metabolism

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https://www.readbyqxmd.com/read/28541544/hemoglobin-glycation-index-is-associated-with-cardiovascular-diseases-in-people-with-impaired-glucose-metabolism
#1
Chang Ho Ahn, Se Hee Min, Dong-Wha Lee, Tae Jung Oh, Kyoung Min Kim, Jae Hoon Moon, Sung Hee Choi, Kyong Soo Park, Hak Chul Jang, Joon Ha, Arthur Sherman, Soo Lim
Context: There is a substantial interindividual variation in the association between glycated hemoglobin (HbA1c) and plasma glucose concentrations. Its impact on cardiovascular disease (CVD) has not been comprehensively evaluated. Objective: We examined associations between interindividual variations in HbA1c, which was estimated as the hemoglobin glycation index (HGI), and CVD. Design, Setting, and Participants: We performed a cross-sectional analysis with 1248 treatment-naïve subjects with prediabetes or diabetes...
May 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28541532/constitutive-activation-of-akt2-in-humans-leads-to-hypoglycemia-without-fatty-liver-or-metabolic-dyslipidemia
#2
Marina Minic, Nuno Rocha, Julie Harris, Matthijs P Groeneveld, Sarah Leiter, Nicholas Wareham, Alison Sleigh, Pascale De Lonlay, Khalid Hussain, Stephen O'Rahilly, Robert K Semple
Context: The activating p.Glu17Lys mutation in AKT2, a kinase mediating many of insulin's metabolic actions, causes hypoinsulinemic hypoglycemia and left-sided hemihypertrophy. The wider metabolic profile and longer term natural history of the condition has not yet been reported. Objective: To characterise the metabolic and cellular consequences of the AKT2 p.Glu17Lys mutation in two previously reported males at the age of 17 years. Design/intervention: Body composition analysis using dual energy X ray absorptiometry, overnight profiling of plasma glucose, insulin and fatty acids, oral glucose tolerance testing, and magnetic resonance spectroscopy to determine hepatic triglyceride content were undertaken...
May 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28531338/placental-exosomes-as-early-biomarker-of-preeclampsia-potential-role-of-exosomal-micrornas-across-gestation
#3
Carlos Salomon, Dominic Guanzon, Katherin Scholz-Romero, Sherri Longo, Paula Correa, Sebastian E Illanes, Gregory E Rice
Context: There is a need to develop strategies for early prediction of patients who will develop preeclampsia (PE), in order to establish preventive strategies to reduce the prevalence and severity of the disease and their associated complications. Objective: The objective of this study was to investigate whether exosomes and their microRNA cargo present in maternal circulation can be used as early biomarker for PE. Design, Setting, Patients, and Interventions: A retrospective stratified study design was used to quantify total exosomes (EXO) and placenta-derived exosomes (PdE) present in maternal plasma of normal (n=32 per time point) and PE (n=15 per time point) pregnancies...
May 22, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28531321/cortical-bone-size-deficit-in-adult-patients-with-type-1-diabetes-mellitus
#4
Charlotte Verroken, Wout Pieters, Loïc Beddeleem, Stefan Goemaere, Hans-Georg Zmierczak, Samyah Shadid, Jean-Marc Kaufman, Bruno Lapauw
CONTEXT: The increased fracture risk associated with type 1 diabetes mellitus (T1DM) remains unexplained by traditional risk factors such as low areal bone mineral density (aBMD). Nonetheless, few data exist on other determinants of bone strength in T1DM, including volumetric BMD (vBMD) and bone geometry. OBJECTIVE: We compared areal and volumetric bone parameters and cortical bone geometry in adult T1DM patients and gender- and age-matched controls. DESIGN: Cross-sectional study including 64 adult T1DM patients (38 men, 41...
May 22, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28531309/effect-of-antiretroviral-therapy-on-bone-and-renal-health-in-young-adults-infected-with-hiv-in-early-life
#5
Aylin B Unsal, Aviva S Mattingly, Sara E Jones, Julia B Purdy, James C Reynolds, Jeffrey B Kopp, Rohan Hazra, Colleen M Hadigan
Context: HIV antiretroviral (ARV) therapy is associated with renal and bone toxicity, but little is known about the potential cumulative effects in adults exposed to ARVs from birth. Objective: To prospectively evaluate renal and bone health in young adults with lifelong HIV and extensive ARV exposure. Design: Cross-sectional comparison of bone mineral density (BMD by dual-energy X-ray absorptiometry), bone turnover and renal function in young adults infected with HIV in early life (n=65) to matched healthy controls (n=23) and longitudinal evaluation (mean follow-up 4...
May 22, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28531305/impact-of-age-and-antibody-type-on-progression-from-single-to-multiple-autoantibodies-in-type-1-diabetes-relatives
#6
Emanuele Bosi, David C Boulware, Dorothy J Becker, Jane H Buckner, Susan Geyer, Peter A Gottlieb, Courtney Henderson, Amanda Kinderman, Jay M Sosenko, Andrea K Steck, Polly J Bingley
Context: Islet autoantibodies are markers of type 1 diabetes and an increase in number of autoantibodies detected during the preclinical phase is predictive of progression to overt disease. Objective: To refine the impact of age in relation to islet antibody type on the progression from single to multiple autoantibodies in relatives of people with type 1 diabetes. Research design and methods: We examined 994 relatives with normal glucose tolerance and positive for a single autoantibody, followed prospectively in the TrialNet Pathway to Prevention...
May 22, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28520980/can-non-hla-single-nucleotide-polymorphisms-help-stratify-risk-in-trialnet-relatives-at-risk-for-type-1-diabetes
#7
Andrea K Steck, Ping Xu, Susan Geyer, Maria J Redondo, Peter Antinozzi, John M Wentworth, Jay Sosenko, Suna Onengut-Gumuscu, Wei-Min Chen, Stephen S Rich, Alberto Pugliese
Context: Genome-wide association studies identified >50 type 1 diabetes (T1D) associated non-HLA loci. Objective: The purpose of this study was to assess the contribution of non-HLA single nucleotide polymorphisms (SNPs) to risk of disease progression. Design and Setting: The TrialNet Pathway to Prevention Study follows relatives of T1D patients for development of autoantibodies (Ab) and T1D. Participants: Using the Immunochip, we analyzed 53 diabetes-associated, non-HLA SNPs in 1,016 Ab positive at risk non-Hispanic White relatives...
May 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28520952/defining-optimal-health-range-for-thyroid-function-based-on-the-risk-of-cardiovascular-disease
#8
L Chaker, T I M Korevaar, D Rizopoulos, T-H Collet, H Völzke, A Hofman, N Rodondi, A R Cappola, R P Peeters, O H Franco
Context: Reference ranges of thyroid stimulating hormone (TSH) and free thyroxine (FT4) are defined by their distribution in apparently healthy populations, (2.5th and 97.5th percentiles) irrespective of disease risk and used as cut-offs for defining and clinically managing thyroid dysfunction. Objective: To provide a proof of concept in defining thyroid function optimal health ranges based on cardiovascular disease (CVD) mortality risk. Design and Participants: 9,233 participants from the Rotterdam Study (mean age 65...
May 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28510711/obesity-and-metabolic-unhealthiness-have-different-effects-on-colorectal-neoplasms
#9
Sun-Hye Ko, Myong Ki Baeg, Seung Yeon Ko, Hee Sun Jung, Pumsoo Kim, Myung-Gyu Choi
Context: Metabolic factors such as obesity and insulin resistance have been suggested as risk factors for colorectal neoplasms (CRN), but few studies have investigated the associations between metabolic status, obesity, and CRN. Objective: To investigate the relationship between metabolic status, obesity and CRN in Koreans who underwent colonoscopy during health screening. Design: Retrospective, cross-sectional. Participants: Subjects were divided into four groups based on metabolic and obesity criteria, (1) metabolically healthy nonobese (MHNO), (2) metabolically healthy obese (MHO), (3) metabolically unhealthy nonobese (MUNO), and (4) metabolically unhealthy obese (MUO)...
May 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28505364/classification-of-patients-with-gh-disorders-may-vary-according-to-the-igf-i-assay
#10
Maria Mavromati, Emmanuelle Kuhn, Hélène Agostini, Sylvie Brailly-Tabard, Catherine Massart, Marie-Liesse Piketty, Armelle Arnoux, Jacques Young, Jean-Claude Souberbielle, Philippe Chanson
Context: IGF-I measurement is essential for the diagnosis and management of GH disorders. However, patient classification may vary substantially according to the assay technique. Objective: We compared individual patient data and classifications obtained with six different IGF-I assay kits in a group of patients with various GH disorders. Materials and Methods: In this cross-sectional study (ClinicalTrials.gov ID NCT01831648), we measured IGF-I with six immunoassays (iSYS, Liaison XL, Immulite, IGFI RIACT, MEDIAGNOST Elisa, MEDIAGNOST RIA) in 102 patients with active or treated acromegaly or GH deficiency...
May 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28505327/histone-deacetylase-inhibitor-saha-is-a-novel-promising-treatment-for-cushing-s-disease
#11
Jie Lu, Grégoire P Chatain, Alejandro Bugarini, Xiang Wang, Dragan Maric, Stuart Walbridge, Zhengping Zhuang, Prashant Chittiboina
Context: Remission failure following transsphenoidal surgery in Cushing's disease (CD) from pituitary corticotroph tumors (CtT) remains clinically challenging. Histone deacetylase (HDAC) inhibitors are antitumor drugs approved for oral clinical use, with potential to affect adrenocorticotropin (ACTH) hypersecretion by inhibiting proopiomelanocortin (POMC) transcription. Objective: Testing efficacy of suberolyl hydroxamic acid (SAHA) on human and murine ACTH-secreting tumor cells...
May 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28505316/pancreas-atrophy-and-islet-amyloid-deposition-in-patients-with-elderly-onset-type-2-diabetes
#12
An Xin, Hiroki Mizukami, Wataru Inaba, Taro Yoshida, Yu-Ki Takeuchi, Soroku Yagihashi
Context: With prolonged life-expectancy, we often encounter patients with elderly onset type 2 diabetes (eT2DM). Although clinical features of eT2DM are suggested to be different from those in patients with middle-aged onset type 2 diabetes (mT2DM), islet pathology in eT2DM has not been addressed. Objective: We attempted to characterize the pancreatic pathology in eT2DM and sought for its clinical implication. Methods: Pancreata from 13 young non-diabetic (20-29 y...
May 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28505284/pathogenic-anti-m%C3%A3-llerian-hormone-variants-in-polycystic-ovary-syndrome
#13
Lidija K Gorsic, Gulum Kosova, Brian Werstein, Ryan Sisk, Richard S Legro, M Geoffrey Hayes, Jose M Teixeira, Andrea Dunaif, Margrit Urbanek
CONTEXT: Polycystic ovary syndrome (PCOS), a common endocrine condition, is the leading cause of anovulatory infertility. OBJECTIVE: Given that common disease-susceptibility variants account for only a small percentage of the estimated PCOS heritability, we tested the hypothesis that rare variants contribute to this deficit in heritability. DESIGN, SETTING, AND PARTICIPANTS: Unbiased whole genome sequencing (WGS) of 80 PCOS cases and 24 reproductively normal control women identified potentially deleterious variants in AMH, the gene encoding anti-Müllerian hormone (AMH)...
May 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28505279/somatic-usp8-gene-mutations-are-a-common-cause-of-pediatric-cushing-disease
#14
Fabio R Faucz, Amit Tirosh, Christina Tatsi, Annabel Berthon, Laura C Hernández-Ramírez, Nikolaos Settas, Anna Angelousi, Ricardo Correa, Georgios Z Papadakis, Prashant Chittiboina, Martha Quezado, Nathan Pankratz, John Lane, Aggeliki Dimopoulos, James L Mills, Maya Lodish, Constantine A Stratakis
Context: Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene have been recently identified as the most common genetic alteration in patients with Cushing disease (CD). However, the frequency of these mutations in the pediatric population has not been extensively assessed. Objective: We investigated the status of the USP8 gene at the somatic level in a cohort of pediatric patients with corticotroph adenomas. Design and Methods: The USP8 gene was fully sequenced in both germline and tumor DNA samples from 42 pediatric CD patients...
May 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28482070/elevated-%C3%AE-hydroxybutyrate-and-bcaa-levels-predict-deterioration-of-glycemic-control-in-adolescents
#15
Domenico Tricò, Hetty Prinsen, Cosimo Giannini, Robin de Graff, Christoph Juchem, Fangyong Li, Sonia Caprio, Nicola Santoro, Raimund I Herzog
Context: Traditional risk factors for type 2 diabetes mellitus (T2DM) are weak predictors of changes in glucose tolerance and insulin sensitivity in youth. Objective: To identify early metabolic features of insulin resistance in youth and whether they predict deterioration of glycemic control. Design and Setting: A cross-sectional and longitudinal study was conducted at the Yale Pediatric Obesity Clinic. Patients and Intervention: Concentrations of α-hydroxybutyrate, β-hydroxybutyrate, lactate, and branched-chain amino acids (BCAAs; valine, leucine, and isoleucine) were measured by NMR spectroscopy in 78 non-diabetic adolescents during an oral glucose tolerance test (OGTT)...
May 5, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28482007/molecular-biomarkers-for-weight-control-in-obese-individuals-subjected-to-a-multi-phase-dietary-intervention
#16
Jennifer Bolton, Emilie Montastier, Jérôme Carayol, Sophie Bonnel, Lucile Mir, Marie-Adeline Marques, Arne Astrup, Wim Saris, Jason Iacovoni, Nathalie Villa-Vialaneix, Armand Valsesia, Dominique Langin, Nathalie Viguerie
Context: While calorie restriction has proven beneficial for weight loss, long-term weight control is variable between individuals. Objective: To identify biomarkers of successful weight control during a dietary intervention (DI). Design, Setting, and Participants: Adipose tissue (AT) transcriptomes were compared between 21 obese individuals that either maintained weight loss or regained weight during the DI. Results were validated on 310 individuals from the same study using RT-qPCR, and protein levels of potential circulating biomarkers measured by ELISA...
May 5, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28482002/thyroid-function-tests-in-the-reference-range-and-fracture-individual-participant-analysis-of-prospective-cohorts
#17
Carole E Aubert, Carmen Floriani, Douglas C Bauer, Bruno R da Costa, Daniel Segna, Manuel R Blum, Tinh-Hai Collet, Howard A Fink, Anne R Cappola, Lamprini Syrogiannouli, Robin P Peeters, Bjørn O Åsvold, Wendy Pj den Elzen, Robert N Luben, Alexandra P Bremner, Apostolos Gogakos, Richard Eastell, Patricia M Kearney, Mari Hoff, Erin Le Blanc, Graziano Ceresini, Fernando Rivadeneira, André G Uitterlinden, Kay-Tee Khaw, Arnulf Langhammer, David J Stott, Rudi Gj Westendorp, Luigi Ferrucci, Graham R Williams, Jacobijn Gussekloo, John P Walsh, Drahomir Aujesky, Nicolas Rodondi
Context: Hyperthyroidism is associated with increased fracture risk, but it is not clear if lower TSH and higher free thyroxine (FT4) in euthyroid individuals are associated with fracture risk. Objective: To evaluate the association of TSH and FT4 with incident fractures in euthyroid individuals. Design: Individual participant data analysis. Setting: Thirteen prospective cohort studies with baseline examinations between 1981 and 2002...
May 5, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28475740/synergistic-effect-of-hyperglycemia-and-helicobacter-pylori-infection-status-on-colorectal-adenoma-risk
#18
Kuang-Chun Hu, Ming-Shiang Wu, Cheng-Hsin Chu, Horng-Yuan Wang, Shee-Chan Lin, Sung-Chen Liu, Chuan-Chuan Liu, Tung-Hung Su, Chi-Ling Chen, Chun-Jen Liu, Shou-Chuan Shih
Context: Both Helicobacter pylori and type 2 diabetes mellitus are possible risk factors for colon adenoma. Objective: The purpose of this study was to assess the interaction between H. pylori and hyperglycemia status on the risk for colon adenoma. Design: Setting, and Participants: This was a cross-sectional, retrospective study conducted at the MacKay Memorial Hospital, Taiwan. The study included 3943 subjects aged over 40 years undergoing bidirectional gastrointestinal endoscopy on the same day between July 2006 and June 2015...
May 4, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28472507/a-case-report-of-hypoglycemia-and-hypogammaglobulinemia-david-syndrome-in-a-patient-with-a-novel-nfkb2-mutation
#19
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/28472477/fibronectin-type-iii-domain-containing-protein-5-rs3480-a-g-polymorphism-irisin-and-liver-fibrosis-in-patients-with-nonalcoholic-fatty-liver-disease
#20
Salvatore Petta, Luca Valenti, Gianluca Svegliati-Baroni, Massimiliano Ruscica, Rosaria Maria Pipitone, Paola Dongiovanni, Chiara Rychlicki, Nicola Ferri, Calogero Cammà, Anna Ludovica Fracanzani, Irene Pierantonelli, Vito Di Marco, Marica Meroni, Debora Giordano, Stefania Grimaudo, Marco Maggioni, Daniela Cabibi, Silvia Fargion, Antonio Craxì
Context: Contrasting data have been reported on the role of irisin, a novel myokine encoded by the FNDC5 gene, in NAFLD pathogenesis. We tested in patients with suspected NASH the association of FNDC5 variants, hepatic expression and circulating irisin with liver damage(F2-F4 fibrosis as main outcome). We also investigated whether irisin modulates hepatocellular fat accumulation and stellate cell activation in experimental models. Methods: We considered 593 consecutive patients, who underwent liver biopsy for suspected NASH and 192 patients with normal liver enzymes and without steatosis...
May 3, 2017: Journal of Clinical Endocrinology and Metabolism
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