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Disease coding

Rodrigo M Carrillo-Larco, Antonio Bernabé-Ortiz
OBJECTIVES.: To describe the mortality trend due to chronic kidney disease (CKD) in Peru in the period 2003-2015. MATERIALS AND METHODS.: Analysis of secondary data and ecological design. National mortality registries based on death certificates were analyzed. ERC was defined as CIE code 10: N18 in the basic cause. Absolute and relative frequencies of death by ERC are described. To estimate the proportion of deaths by CKD in each region of Peru, a generalized mixed linear model was used...
July 2018: Revista Peruana de Medicina Experimental y Salud Pública
Ana Cristina Martins, Fabíola Giordani, Lusiele Guaraldo, Gianni Tognoni, Suely Rozenfeld
Studies of adverse drug events (ADEs) are important in order not to jeopardize the positive impact of pharmacotherapy. These events have substantial impact on the population morbidity profiles, and increasing health system operating costs. Administrative databases are an important source of information for public health purposes and for identifying ADEs. In order to contribute to learning about ADE in hospitalized patients, this study examined the potential of applying ICD-10 (10th revision of the International Classification of Diseases) codes to a national database of the public health care system (SIH-SUS)...
November 29, 2018: Cadernos de Saúde Pública
Jaqueline Poleto Bragato, Larissa Martins Melo, Gabriela Lovizutto Venturin, Gabriela Torres Rebech, Leandro Encarnação Garcia, Flavia Lombardi Lopes, Valéria Marçal Felix de Lima
Visceral leishmaniasis (VL) in humans is a chronic and often fatal disease if left untreated. Dogs appear to be the main reservoir host for L. infantum infection, however, in many regions other canids such as jackals, foxes, wolves and other mammals, such as hares or black rats, have been implicated as wild reservoirs. Most dogs cannot form an effective immune response against this infection, and this could be modulated by small non-coding RNAs, called microRNAs, responsible for post-transcriptional control of gene expression...
2018: PloS One
Jae Heon Kim, Shufeng Li, Yash Khandwala, Kyung Jin Chung, Hyung Keun Park, Benjamin I Chung
Importance: Although the intent of nephron-sparing surgery is to eradicate malignant tumors found on preoperative imaging, benign masses often cannot be differentiated from malignant tumors. However, in the past there have been discrepancies in the reported percentages of benign masses removed by partial nephrectomy (PNx). Objective: To investigate the annual trend of prevalence of benign pathologic findings after PNx and to investigate what potential factors are associated with this prevalence...
December 5, 2018: JAMA Surgery
Sarah A Pendergrass, Dana C Crawford
Electronic health records contain patient-level data collected during and for clinical care. Data within the electronic health record include diagnostic billing codes, procedure codes, vital signs, laboratory test results, clinical imaging, and physician notes. With repeated clinic visits, these data are longitudinal, providing important information on disease development, progression, and response to treatment or intervention strategies. The near universal adoption of electronic health records nationally has the potential to provide population-scale real-world clinical data accessible for biomedical research, including genetic association studies...
December 5, 2018: Current Protocols in Human Genetics
Allan F McRae, Riccardo E Marioni, Sonia Shah, Jian Yang, Joseph E Powell, Sarah E Harris, Jude Gibson, Anjali K Henders, Lisa Bowdler, Jodie N Painter, Lee Murphy, Nicholas G Martin, John M Starr, Naomi R Wray, Ian J Deary, Peter M Visscher, Grant W Montgomery
DNA methylation plays an important role in the regulation of transcription. Genetic control of DNA methylation is a potential candidate for explaining the many identified SNP associations with disease that are not found in coding regions. We replicated 52,916 cis and 2,025 trans DNA methylation quantitative trait loci (mQTL) using methylation from whole blood measured on Illumina HumanMethylation450 arrays in the Brisbane Systems Genetics Study (n = 614 from 177 families) and the Lothian Birth Cohorts of 1921 and 1936 (combined n = 1366)...
December 4, 2018: Scientific Reports
Rong Wu, Ang Li, Baofa Sun, Jian-Guang Sun, Jinhua Zhang, Ting Zhang, Yusheng Chen, Yujie Xiao, Yuhao Gao, Qingyang Zhang, Jun Ma, Xin Yang, Yajin Liao, Wei-Yi Lai, Xiaolong Qi, Shukun Wang, Yousheng Shu, Hai-Lin Wang, Fengchao Wang, Yun-Gui Yang, Zengqiang Yuan
While N6 -methyladenosine (m6 A), the most abundant internal modification in eukaryotic mRNA, is linked to cell differentiation and tissue development, the biological significance of m6 A modification in mammalian glial development remains unknown. Here, we identify a novel m6 A reader, Prrc2a (Proline rich coiled-coil 2 A), which controls oligodendrocyte specification and myelination. Nestin-Cre-mediated knockout of Prrc2a induces significant hypomyelination, decreased lifespan, as well as locomotive and cognitive defects in a mouse model...
December 4, 2018: Cell Research
Faouzi I Maalouf, William O Cooper, Shannon M Stratton, Judith A Dudley, Jean Ko, Anamika Banerji, Stephen W Patrick
OBJECTIVES: Neonatal abstinence syndrome (NAS) is a postnatal withdrawal syndrome experienced by some infants with opioid exposure. Hospital administrative data are commonly used for research and surveillance but have not been validated for NAS. Our objectives for this study were to validate the diagnostic codes for NAS and to develop an algorithm to optimize identification. METHODS: Tennessee Medicaid claims from 2009 to 2011 (primary sample) and 2016 (secondary sample; post- International Classification of Diseases, 10th Revision, Clinical Modification [ ICD-10-CM ]) were obtained...
December 4, 2018: Pediatrics
Walid Warda, Fabrice Larosa, Mathieu Neto Da Rocha, Rim Trad, Eric Deconinck, Ziad Fajloun, Cyril Faure, Denis Caillot, Marius Moldovan, Severine Valmary-Degano, Sabeha Biichle, Etienne Daguindau, Francine Garnache-Ottou, Sebastien Tabruyn, Olivier Adotévi, Marina Deschamps, Christophe Ferrand
Chronic myeloid leukemia (CML) is a chronic disease resulting in myeloid cell expansion through expression of the BCR-ABL1 fusion transcript. Tyrosine kinase inhibitors (TKI) have significantly increased survival of CML patients, and deep responders may consider stopping the treatment. However, more than 50% of patients relapse and restart TKI, subsequently suffering unknown toxicity. Because CML is a model immune system-sensitive disease, we hypothesize that chimeric antigen receptor (CAR) T cells targeting interleukin-1 receptor-associated protein (IL-1RAP) in quiescent CML stem cells may offer an opportunity for a permanent cure...
December 4, 2018: Cancer Research
Wen Liu, Dattatraya Patil, David H Howard, Reneé H Moore, Heqiong Wang, Martin G Sanda, Christopher P Filson
PURPOSE: Though superior in clinical trial settings, outcomes following magnetic resonance image (MRI)-guided prostate biopsies have not been reported broadly. We compared prostate cancer detection rates for men who did and did not undergo prebiopsy MRI and evaluated treatment patterns based on biopsy approach, year of biopsy, and proximity to early adopters. METHODS: Using private insurance claims (2009-2015), we identified men who underwent prostate biopsy using appropriate procedure codes...
December 1, 2018: Urologic Oncology
Jie Xiong, Wei-Li Zhao
Natural-killer/T cell lymphoma (NKTCL) represents the most common subtype of extranodal lymphoma with aggressive clinical behavior. Prevalent in Asians and South Americans, the pathogenesis of NKTCL remains to be fully elucidated. Using system biology techniques including genomics, transcriptomics, epigenomics, and metabolomics, novel biomarkers and therapeutic targets have been revealed in NKTCL. Whole-exome sequencing studies identify recurrent somatic gene mutations, involving RNA helicases, tumor suppressors, JAK-STAT pathway molecules, and epigenetic modifiers...
December 4, 2018: Journal of Hematology & Oncology
C Simon Durai Raj, Krishnaraj Thirugnanasambantham, Mohamed Ibrahim Hairul Islam, S Mathan Kumar, Sandhya Sundaram, Ganapathy Ashok, Venugopal Senthilkumar, Senguttuvan Muralidaran, S Saravanan
BACKGROUND: Rheumatoid arthritis (RA) is a chronic inflammatory and autoimmune disease leading to bones and joints destruction. It is one of the major causes of lifetime disability and mortality among humans in the developing and developed countries. It was evident that epigenetic dysregulation is related to the pathogenesis of RA. MicroRNAs (miRNAs) are small non-coding RNAs that are epigenetic regulators for diverse biological processes and also provided novel molecular insights in the formation of arthritis...
December 3, 2018: MicroRNA
Tapio Nevalainen, Arttu Autio, Binisha Hamal Mishra, Saara Marttila, Marja Jylhä, Mikko Hurme
Human endogenous retroviruses (HERV) are relics of ancient retroviral infections in our genome. Most of them have lost their coding capacity, but proviral RNA or protein have been observed in several disease states (e.g. in inflammatory and autoimmune diseases and malignancies). However, their clinical significance as well as their mechanisms of action have still remained elusive. As human aging is associated with several biological characteristics of these diseases, we now analyzed the aging-associated expression of the individual proviruses of two HERV families, HERV-K (91 proviruses) and HERV-W (213 proviruses) using genome-wide RNA-sequencing (RNA-seq)...
2018: PloS One
Mustafa Argun, Ali Baykan, Nihal Hatipoğlu, Leyla Akın, Yavuz Şahin, Nazmi Narin, Selim Kurtoğlu
Argun M, Baykan A, Hatipoğlu N, Akın L, Şahin Y, Narin N, Kurtoğlu S. Arrhythmia in thiamine responsive megaloblastic anemia syndrome. Turk J Pediatr 2018; 60: 348-351. Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness. Mutations in the SLC19A2 gene that codes for thiamine transporter 1 protein cause TRMAS, and more than 30 homozygous mutations have been identified to date...
2018: Turkish Journal of Pediatrics
Emmi Helle, Aldo Córdova-Palomera, Tiina Ojala, Priyanka Saha, Praneetha Potiny, Stefan Gustafsson, Erik Ingelsson, Michael Bamshad, Deborah Nickerson, Jessica X Chong, Euan Ashley, James R Priest
Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank...
December 4, 2018: Genetic Epidemiology
Nicole Stormon, Nicholas Kazantzis, Pauline J Ford, Ratilal Lalloo
OBJECTIVES: Research into dental diseases in children is no longer primarily focussed on biological and dietary factors, with social determinants an important influence. The aim of this study was to systematically review the focus of research on influences on children's oral health in Australia. METHODS: Relevant databases were searched for English language publications between 2008 and 2017. Included studies were original research articles with a focus on influences of oral health for Australian children...
December 3, 2018: Community Dentistry and Oral Epidemiology
Wenjin Yan, Zheng Hao, Shuyan Tang, Jin Dai, Liming Zheng, Pengjun Yu, Wenqiang Yan, Xiao Han, Xingquan Xu, Dongquan Shi, Shiro Ikegawa, Huajian Teng, Qing Jiang
Developmental dysplasia of the hip (DDH) is one of the most common congenital malformations and covers a spectrum of hip disorders from mild dysplasia to irreducible dislocation. The pathological mechanisms of DDH are poorly understood, which hampers the development of diagnostic tools and treatments. To gain insight into its disease mechanism, we explored the potential biological processes that underlie DDH by integrating pathway analysis tools and performing a genome-wide association study (GWAS). A total of 406 DDH-associated genes (P< 0...
December 3, 2018: Clinical Genetics
Eric M Groh, Noorie Hyun, David Check, Theo Heller, R Taylor Ripley, Jonathan M Hernandez, Barry I Graubard, Jeremy L Davis
BACKGROUND: Declining incidence of gastric cancer in the USA has presumably resulted in lower rates of major gastrectomy for cancer. The impact on perioperative outcomes remains undefined. The aims of this study were to characterize national trends in frequency of major gastrectomy for cancer, identify factors associated with in-hospital mortality, and examine outcome disparities by race/ethnicity. METHODS: Nationwide inpatient sample data from 1993 to 2013 were queried for procedural and diagnostic codes (ICD-9) relating to total and partial gastrectomy procedures...
December 3, 2018: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
Henry H Nguyen, Mark G Swain, Philip Wong, Stephen E Congly
BACKGROUND: Hepatic encephalopathy, a form of brain dysfunction seen in the setting of liver insufficiency, negatively affects driving performance and so is both a patient and public safety issue. We aimed to review the motor vehicle codes in each Canadian province and territory relating to the reporting of patients with hepatic encephalopathy and to search a Canadian legal database for cases of motor vehicle collisions involving patients with hepatic encephalopathy. METHODS: In this descriptive analysis, the transportation agencies of each Canadian province and territory were contacted via telephone and/or email between April and August 2017...
October 2018: CMAJ Open
Theodore K Marras, Christopher Vinnard, Quanwu Zhang, Keith Hamilton, Jennifer Adjemian, Gina Eagle, Raymond Zhang, Engels Chou, Kenneth N Olivier
RATIONALE: The risk of all-cause mortality of nontuberculous mycobacterial lung disease (NTMLD) in the United States (US) population is not well established. OBJECTIVES: This study aims to assess the public health burden of NTMLD in the US by comparing the relative risk of all-cause mortality in the NTMLD population with an age- and sex-matched cohort from the general population. METHODS: Patients with physician claims for NTMLD (ICD-9 0.031; ICD-10 A31...
December 2018: Respiratory Medicine
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