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Jérôme Avouac, Fazia Amrouche, Christophe Meune, Grégoire Rey, André Kahan, Yannick Allanore
OBJECTIVE: To study the mortality profile of patients with rheumatoid arthritis (RA) in France. METHODS: Data were collected between 2000 and 2011 from the French Epidemiological Center for the Medical Causes of Death database; all death certificates from adults that either mentioned RA as an underlying cause of death (UCD) or as an associated cause of death (ACD) were evaluated using multiple-cause-of-death analysis. The different causes of death and their frequency were reported, together with the ratio of observed/expected number of death (O/E ratio) to measure the strength of association between RA listed as an ACD and the corresponding UCD...
October 29, 2016: Seminars in Arthritis and Rheumatism
Rihwa Choi, Hyung Doo Park, Mina Yang, Chang Seok Ki, Soo Youn Lee, Jong Won Kim, Junghan Song, Yun Sil Chang, Won Soon Park
Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient using whole exome sequencing (WES). A four-day-old female neonate presented with respiratory failure due to severe metabolic encephalopathy with hyperammonemia (1,690 μmol/L; reference range, 11.2-48.2 μmol/L). Plasma amino acid analysis revealed markedly elevated levels of alanine (2,923 μmol/L; reference range, 131-710 μmol/L) and glutamine (5,777 μmol/L; reference range, 376-709 μmol/L), whereas that of citrulline was decreased (2 μmol/L; reference range, 10-45 μmol/L)...
January 2017: Annals of Laboratory Medicine
David J Brayden
David Brayden speaks to Hannah Makin, Commissioning Editor: David Brayden is a Full Professor (Advanced Drug Delivery) at the School of Veterinary Medicine, University College Dublin (UCD) and also a Fellow of the UCD Conway Institute. Following a PhD in Pharmacology at the University of Cambridge, UK (1989), and a postdoctoral research fellowship at Stanford University, CA, USA, he set up Elan Biotechnology Research's in vitro pharmacology laboratory in Dublin (1991). At Elan, he became a senior scientist and project manager of several of Elan's joint-venture drug delivery research collaborations with US biotech companies...
November 8, 2016: Therapeutic Delivery
Ram B Jain
Data from the National Health and Nutrition Examination Survey for 1999-2012 were used to evaluate factors that affect observed levels of urine cadmium (UCd) among children aged 6-11 years and nonsmoker adolescents aged 12-19 years. Adjusted UCd levels were found to be statistically significantly higher for female nonsmoker adolescents than male nonsmoker adolescents (p < 0.01). Non-Hispanic white (NHW) participants had statistically significantly lower adjusted levels of UCd (<0.01) than non-Hispanic black (NHB) participants for both children (p < 0...
November 7, 2016: Environmental Science and Pollution Research International
Brian A Klein, Katherine P Lemon, Lina L Faller, Guillaume Jospin, Jonathan A Eisen, David A Coil
Here, we present the draft genome sequence of the actinobacterium Curtobacterium sp. strain UCD-KPL2560, which was isolated from the running surface of an indoor track field house in Medford, MA, USA (42.409716°N, -71.115169°W). The genome assembly contains 3,480,487 bp in 156 contigs.
October 6, 2016: Genome Announcements
Tynisha M Koenigsaecker, Jonathan A Eisen, David A Coil
Here, we present the draft genome of Gordonia sp. strain UCD-TK1. The assembly contains 5,470,576 bp in 98 contigs. This strain was isolated from a disinfected ambulatory surgery center.
October 13, 2016: Genome Announcements
Karley M Lujan, Jonathan A Eisen, David A Coil
Here, we present the draft genome sequence of Tenacibaculum soleae strain UCD-KL19. The assembly contains 3,012,701 bp in 46 contigs. This strain was isolated from a seagrass leaf (Zostera marina) collected from Bodega Bay, CA, as a part of an undergraduate student research project on isolating bacteria from seagrass.
October 13, 2016: Genome Announcements
Jan Horsky, Harley Z Ramelson
Excellent usability characteristics allow electronic health record (EHR) systems to more effectively support clinicians providing care and contribute to better quality and safety. The Office of the National Coordinator for Health IT (ONC) therefore requires all vendors to follow a User-Centered Design (UCD) process to increase the usability of their products in order to meet certification criteria for the Safety-Enhanced Design part of the Meaningful Use (stage 2) EHR incentive program. This report describes the initial stage of a UCD process in which foundational design concepts were formulated...
December 2016: Journal of Biomedical Informatics
Meghan Moynihan, Karen E Peterson, Alejandra Cantoral, Peter X K Song, Andrew Jones, Maritsa Solano-González, John D Meeker, Niladri Basu, Martha Maria Téllez-Rojo
BACKGROUND: Cadmium is a toxic metal with modifiable exposure sources including diet. In pregnant women and children, unique dietary habits may contribute to DCd, and the relationship of diet to overall cadmium exposure can depend on specific factors during these transitional time periods. OBJECTIVES: This study aimed to identify and quantify food sources of DCd, describe the distribution of UCd, and determine the relationship of DCd and intake of specific foods with UCd, stratified by maternal smoking history, among pregnant women and children in a well-characterized Mexico City birth cohort...
October 2, 2016: Science of the Total Environment
Helen Graham
The School of Veterinary Medicine in Dublin (UCD) has introduced an alumni mentoring programme for new veterinary and veterinary nursing graduates. Helen Graham, clinical education support manager, explains how it works.
October 1, 2016: Veterinary Record
Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, Aline Cano, Dries Dobbelaere, Anais Brassier, Karine Mention, Jean-Baptiste Arnoux, François Feillet, Brigitte Chabrol, Nathalie Guffon, Caroline Elie, Pascale de Lonlay
BACKGROUND: The efficacy and safety of intra-venous (i.v.) sodium benzoate for treating acute episodes of hyperammonemia in urea cycle enzyme disorders (UCD) is well known. However, published data do not provide a clear picture of the benefits and risks of this drug. We report a retrospective multicentre study on the use of i.v. sodium benzoate in patients treated for UCD between 2000 and 2010 in the 6 French reference centres for metabolic diseases. RESULTS: Sixty-one patients with UCDs - 22 ornithine transcarbamylase (20 confirmed, 2 suspected), 18 arginino-succinate synthetase, 15 carbamoyl phosphate synthetase, 3 arginosuccinate lyase, 1 arginase deficiency, 1 N-acetylglutamate synthetase, 1 HHH syndrome - required i...
September 23, 2016: Orphanet Journal of Rare Diseases
Ashley Vater, Vivian Agbonavbare, Dylan A Carlin, Griselda M Carruthers, Adam Chac, Ladan Doroud, Samuel J Farris, Melanya Gudzeva, Guillaume Jospin, John A Kintner, Jonathon P Knauss, Yi Lor, Randi Pechacek, Eden S Rohner, Sierra M V Simmons, Mayya Verescshagina, Christian S Wirawan, Leonel Zagal, David A Coil
We present here the draft genome sequences for nine strains of Vibrio (V. cyclitrophicus, V. splendidus, V. tasmaniensis, and three unidentified) and one Shewanella strain. Strains were isolated from red (Haliotis rufescens) and white (Haliotis sorenseni) abalone, with and without exposure to "Candidatus Xenohaliotis californiensis," the causative agent of abalone withering syndrome.
2016: Genome Announcements
Sammie J Roberts, Laura S Huff, Jason P Lott, Robert P Dellavalle, Cory A Dunnick
The Centers for Medicare and Medicaid Services (CMS) have prioritized the objective of optimizing quality healthcare though quality improvement initiatives, yet research on dermatology-specific QI programs and their perceptions among dermatology residents remains limited. We explore residents' opinions of a dermatology-specific QI scholarly project curriculum implemented at University of Colorado Denver (UCD) in 2010 and also evaluate residents' attitudes regarding the value of this curriculum in aiding them to meet ACGME core competencies...
2016: Dermatology Online Journal
Kenichi Tanaka, Kimitoshi Nakamura, Shirou Matsumoto, Jun Kido, Hiroshi Mitsubuchi, Toshihiro Ohura, Fumio Endo
BACKGROUND: The amino acid L-citrulline is used as a therapeutic agent for urea cycle disorders (UCDs) including ornithine transcarbamylase deficiency (OTCD), carbamoyl phosphate synthetase I deficiency (CPSD), and N-acetylglutamate synthase (NAGS) deficiency. However, there are few reports with regard to the use of L-citrulline in Japan and little consensus regarding the effects of L-citrulline administration. METHODS: We conducted a questionnaire survey of patients undergoing L-citrulline treatment for a UCD to evaluate the current status of this therapy...
September 10, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal
Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures. Acute presentation in adulthood is extremely unusual.[1] We present the first case of adult onset ARD presenting with encephalopathy and diffusion weighted MRI findings that resembled a moustache in the midbrain.
July 2016: Annals of Indian Academy of Neurology
Caroline Unsinn, Anibh Das, Vassili Valayannopoulos, Eva Thimm, Skadi Beblo, Alberto Burlina, Vassiliki Konstantopoulou, Sebene Mayorandan, Pascale de Lonlay, Jörg Rennecke, Jens Derbinski, Georg F Hoffmann, Johannes Häberle
BACKGROUND: Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited. To understand better the current situation of neonatal onset in UCDs, we have performed a multicentre, retrospective, non-interventional case series study focussing on the most severe UCDs, namely defects of carbamoyl phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), and argininosuccinate synthetase (ASS)...
August 19, 2016: Orphanet Journal of Rare Diseases
Xiaofeng Wang, Yu Wang, Lingfang Feng, Yan Tong, Zhijian Chen, Shibo Ying, Tianhui Chen, Tao Li, Hailing Xia, Zhaoqiang Jiang, Qi Shang, Xiaoming Lou, Jianlin Lou
The benchmark dose (BMD) method has been increasingly used to assess the health risks of cadmium (Cd) in epidemiological studies. The aim of our study was to estimate the threshold levels of urinary Cd (UCd) using the BMD method in a general population of Jiangshan City, Zhejiang Province of China. In our study, a total of 934 people (469 men, 465 women) were recruited and morning urine samples were collected from all the participants. Levels of Cd, creatinine, and renal dysfunction indicators such as retinol binding protein (RBP), β2-microglobulin (β2-MG), and N-acetyl-b-glucosaminidase (NAG) in urine were detected for analysis of BMD and BMD low (BMDL) of UCd...
2016: PloS One
Oleg A Shchelochkov, Klara Dickinson, Bruce F Scharschmidt, Brendan Lee, Miguel Marino, Cynthia Le Mons
UNLABELLED: Patients and families living with metabolic disorders face challenging dietary and drug treatment regimens. On the hypothesis that poor palatability, volume and frequency of drug/formula administration contribute to treatment non-adherence and hyperammonemic episodes, a survey was conducted of patient, caregiver (CG) and physician perspectives on treatments used in urea cycle disorders (UCD). METHODS: A paper and online survey assessed experience with UCD medications, medical foods and dietary supplements...
September 2016: Molecular Genetics and Metabolism Reports
Paola Cipriani, Paola Di Benedetto, Hermann Dietrich, Piero Ruscitti, Vasiliki Liakouli, Francesco Carubbi, Ilenia Pantano, Onorina Berardicurti, Roswitha Sgonc, Roberto Giacomelli
INTRODUCTION: Vascular injury and endothelial cell (EC) apoptosis are the earliest events in systemic sclerosis (SSc), before the onset of fibrosis, and stromal cell-derived factor 1 (SDF-1), vascular endothelial growth factor (VEGFA), endothelin-1 (ET-1) and platelet-derived growth factors (PDGF-BB) represent the key molecules to study the link between vascular injury and fibrosis during SSc. The University of California at Davis line 200 (UCD-200) chickens display the same hallmarks of human SSc: vascular occlusion, perivascular lymphocytic infiltration and fibrosis of skin and internal organs...
August 1, 2016: Archives of Medical Science: AMS
CuiXia Liu, YuBiao Li, ChunShui Zhu, ZhaoMin Dong, Kun Zhang, YanBin Zhao, YiLu Xu
Cadmium (Cd) is a well-known nephrotoxic contaminant, and N-acetyl-β-D-glucosaminidase (NAG) is considered to be an early and sensitive marker of tubular dysfunction. The link between Cd exposure and NAG level enables us to derive the benchmark dose (BMD) of Cd. Although several reports have already documented urinary Cd (UCd)-NAG relationships and BMD estimations, high heterogeneities arise due to the sub-populations (age, gender, and ethnicity) and BMD methodologies being employed. To clarify the influences that these variables exert, firstly, a random effect meta-analysis was performed in this study to correlate the UCd and NAG based on 92 datasets collected from 30 publications...
July 27, 2016: Environmental Science and Pollution Research International
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