Read by QxMD icon Read

Disease coding

Sundus Naila Maqbool, Haleema Saadiya Nazeer, Mehak Rafiq, Aneela Javed, Rumeza Hanif
Breast Cancer is the most common cancer among women with several genes involved in disease susceptibility. As majority of genome-wide significant variants fall outside the coding region, it is likely that some of them alter specific gene functions. GWAS database was used to interpret the regulatory functions of these genetic variants. A total of 320 SNPs for breast cancer were selected via GWAS, which were entered into the SNAP web portal tool, to determine the one's found to be in Linkage Disequilibrium (r2  < 0...
August 14, 2018: Gene
Kai Joachim Borm, Julia Voppichler, Mathias Düsberg, Markus Oechsner, Tibor Vag, Wolfgang Weber, Stephanie Elisabeth Combs, Marciana Nona Duma
PURPOSE: The aim of this study was to localize loco-regional lymph node metastases using positron emission tomography with fluorine 18 fluorodeoxyglucose/computed tomography (FDG-PET/CT) datasets in a large cohort of patients and to evaluate the existing Radiation Therapy Oncology Group (RTOG) clinical target volume (CTV) and the European SocieTy for Radiotherapy & Oncology (ESTRO) CTV contouring guidelines. METHODS: 235 patients with 580 FDG/PET-CT positive loco-regional lymph node metastases were included in our analysis...
August 14, 2018: International Journal of Radiation Oncology, Biology, Physics
Purav Shah, Shilpkumar Arora, Varun Kumar, Surina Sharma, Harshil Shah, Byomesh Tripathi, Purnima Sharma, Ravina Sharma, Sejal Savani, Muhammad Raheel Qureshi, Ibrahim Faruqi
OBJECTIVE: Pulmonary embolism (PE) is associated with significant morbidity and mortality in hospitalized patients. Real time data on 90-day mortality, bleeding and readmission is sparse. METHODS: The study cohort was derived from the National Readmission Data (NRD) 2013-14. Pulmonary embolism was identified using International Classification of Diseases, 9th Revision (ICD-9-CM) code 415.11/3/9 in the primary diagnosis field. Any admission within 90 days of primary admission was considered a 90-day readmission...
August 17, 2018: Clinical Cardiology
Christoffer V Madsen, Erik Ilsø Christensen, Rikke Nielsen, Helle Mogensen, Åse K Rasmussen, Ulla Feldt-Rasmussen
Fabry disease (FD) is an X-linked, lysosomal storage disease. Mutations in the gene coding for alpha-galactosidase A lead to globotriaosylceramide (Gb-3) accumulation in lysosomes and in placenta and umbilical cord. Impact of FD and treatment with enzyme replacement (ERT) on foetal development is undisclosed.A 38-year-old primigravida with FD (G85N) is reported. She has 50% reduced alpha-galactosidase A activity and elevated plasma and urine-Gb-3. She was severely affected with ischaemic stroke at age 23, hypertension, albuminuria and moderately reduced renal function...
August 17, 2018: JIMD Reports
Jillian Weber, Rebecca C Lee, Donna Martsolf
The purpose of this study was to describe and explain the process by which homeless veterans manage their chronic health problems. In the United States, over 550,000 people experience homelessness on any given night. Of these, over 11% are veterans of the military, many whom suffer from at least one chronic disease. Study participants included male homeless veterans with at least one chronic health problem recruited at a Veterans Affairs emergency department, a homeless shelter, and a soup kitchen. Semi-structured interviews with 32 veterans from the Vietnam/post-Vietnam era were audio-recorded, verified, and coded resulting in a theory entitled "pursuing the mission," which describes and explains four ways (deferring, exploring, embarking, embracing) they manage their chronic health problems...
January 2018: Global Qualitative Nursing Research
Hind H Lazrak, Emilie René, Naoual Elftouh, Jean-Philippe Lafrance
Background: Low-molecular-weight heparins (LMWH) replaced unfractionated heparin (UFH) in multiple indications. Although LMWH efficacy in hemodialysis was demonstrated through multiple studies, their safety remains controversial. The potential bioaccumulation in patients undergoing chronic hemodialysis raised the question of bleeding risk among this population. Objective: The aim of this study was to evaluate bleeding risk among patients with chronic hemodialysis receiving LMWH or UFH for the extracorporeal circuit anticoagulation...
2018: Canadian Journal of Kidney Health and Disease
Mahdi Rivandi, John W M Martens, Antoinette Hollestelle
Genome-wide association studies (GWAS) have identified more than 170 single nucleotide polymorphisms (SNPs) associated with the susceptibility to breast cancer. Together, these SNPs explain 18% of the familial relative risk, which is estimated to be nearly half of the total familial breast cancer risk that is collectively explained by low-risk susceptibility alleles. An important aspect of this success has been the access to large sample sizes through collaborative efforts within the Breast Cancer Association Consortium (BCAC), but also collaborations between cancer association consortia...
2018: Frontiers in Genetics
Clifford C Sheckter, Kay Hung, Danielle Rochlin, Zeshaan Maan, Yvonne Karanas, Catherine Curtin
INTRODUCTION: Despite advances in critical care and the surgical management of major burns, highly moribund patients are unlikely to survive. Little is known regarding the utilization and effects of palliative care services in this population. METHODS: All major burn hospitalizations were identified within the Nationwide Inpatient Sample. Patients were characterized by burn, demographic, facility, and diseases factors. Palliative care services were identified with International Classification Disease 9th edition code V6...
August 13, 2018: Burns: Journal of the International Society for Burn Injuries
Eithne M Maguire, Stuart W A Pearce, Qingzhong Xiao
During atherosclerosis, the gradual accumulation of lipids into the subendothelial space of damaged arteries results in several lipid modification processes followed by macrophage uptake in the arterial wall. The way in which these modified lipoproteins are dealt with determines the likelihood of cholesterol accumulation within the monocyte-derived macrophage and thus its transformation into the foam cell that makes up the characteristic fatty streak observed in the early stages of atherosclerosis. The unique expression of chemokine receptors and cellular adhesion molecules expressed on the cell surface of monocytes points to a particular extravasation route that they can take to gain entry into atherosclerotic site, in order to undergo differentiation into the phagocytic macrophage...
August 13, 2018: Vascular Pharmacology
Jozica Skufca, Jukka Ollgren, Miia Artama, Esa Ruokokoski, Hanna Nohynek, Arto A Palmu
BACKGROUND: A bivalent HPV vaccine (Cervarix®; HPV2, GlaxoSmithKline) was introduced into the Finnish national vaccination programme (NVP) in November 2013 for girls aged 11-13 years with a catch-up for 14-15 year-olds. We evaluated the association between HPV2 and selected autoimmune diseases and clinical syndromes by conducting a nation-wide retrospective register-based cohort study. METHODS: First life-time occurrences of the relevant ICD-10 codes in girls aged 11-15 years between Nov-2013 and Dec-2016 were obtained from the national hospital discharge register...
July 25, 2018: Vaccine
Anjali B Daniel, Vrinda Saraff, Nick J Shaw, Robert Yates, M Zulf Mughal, Raja Padidela
BACKGROUND: Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems, seizures, premature tooth loss, and fractures. Data from patients with HPP and their healthcare resource utilization are lacking. We evaluated healthcare utilization for 3 patients with differing severities of HPP. RESULTS: Patient 1 had perinatal HPP (received enzyme replacement therapy asfotase alfa under a compassionate use program), Patient 2 had infantile HPP, and Patient 3 had childhood HPP...
August 16, 2018: Orphanet Journal of Rare Diseases
Hsueh-Yi Lu, Kuang-Ming Liao
BACKGROUND: Previous studies have shown that chronic kidney disease increases the risk of deep vein thrombosis (DVT). DVT is the risk of pulmonary embolism among persons with end-stage renal disease (ESRD). Information on the incidence of DVT in ESRD is limited, and no studies have been conducted in the Asian population. The aim of our study was to investigate the incidence of DVT in Asian ESRD patients by comparing with the non-ESRD patients and to identify the associated risk factors...
August 16, 2018: BMC Nephrology
Emmanuel Bäckryd, Sofia Edström, Björn Gerdle, Bijar Ghafouri
BACKGROUND: Post-translational modifications (PTMs) generate a tremendous protein diversity from the ~ 20,000 protein-coding genes of the human genome. In chronic pain conditions, exposure to pathological processes in the central nervous system could lead to disease-specific PTMs detectable in the cerebrospinal fluid (CSF). In a previous hypothesis-generating study, we reported that seven out of 260 CSF proteins highly discriminated between neuropathic pain patients and healthy controls: one isoform of angiotensinogen (AG), two isoforms of alpha-1-antitrypsin (AT), three isoforms of haptoglobin (HG), and one isoform of pigment epithelium-derived factor (PEDF)...
August 16, 2018: BMC Neurology
Romina Dastmalchi, Soudeh Ghafouri-Fard, Mir Davood Omrani, Mehrdokht Mazdeh, Arezou Sayad, Mohammad Taheri
Multiple sclerosis (MS) is a chronic autoimmune disorder in which dysregulation or aberrant expressions of several immune-related genes have been noted. More recently, the participation of long non-coding RNAs (lncRNAs) in regulation of immune responses has been highlighted. In the present study, we evaluated expression levels of three lncRNAs named Nuclear Paraspeckle Assembly Transcript 1 (NEAT1), P21 associated ncRNA DNA damage activated (PANDA) and Taurine-up-regulated gene 1 (TUG1) in peripheral blood of 50 relapsing-remitting MS patients and 50 matched healthy subjects...
August 1, 2018: Multiple Sclerosis and related Disorders
Pratik Hemant Khedkar, Nikolaus Osterrieder, Dusan Kunec
Codon pair bias deoptimization (CPBD) has been successfully used to attenuate several RNA viruses. CPBD involves recoding a viral protein-coding sequence to maximize the number of codon pairs that are statistically underrepresented in the host, which presumably slows protein translation and, hence, causes virus attenuation. However, since recoding preserves the amino acid composition and codon bias, attenuated and parental viruses are antigenically identical. To determine if Marek's disease virus (MDV), a highly oncogenic herpesvirus of the chicken with a large double-stranded DNA genome, can be attenuated by CPBD of its major oncogene meq, we recoded the gene to minimize (meq-D), maximize (meq-O), or preserve (meq-R) the level of codon pairs that are overrepresented in the chicken protein-coding sequences...
August 16, 2018: Journal of General Virology
Lloyd D Harvey, Stephen Y Chan
Our appreciation of the roles of non-coding RNAs, in particular microRNAs, in the manifestation of pulmonary hypertension (PH) has advanced considerably over the past decade. Comprised of small nucleotide sequences, microRNAs have demonstrated critical and broad regulatory roles in the pathogenesis of PH via the direct binding to messenger RNA transcripts for degradation or inhibition of translation, thereby exerting profound influence on cellular activity. Yet, as inherently pleiotropic molecules, microRNAs have been difficult to study using traditional, reductionist approaches alone...
August 16, 2018: Journal of Physiology
C S Moura, E Rahme, W P Maksymowych, M Abrahamowicz, L Bessette, S Bernatsky
OBJECTIVE: To assess the risk of hospitalized infection among initiators of disease-modifying anti-rheumatic drugs (DMARDs) and/or anti-tumour necrosis factor (anti-TNF) agents in ankylosing spondylitis (AS). METHOD: We studied AS patients, new users of anti-TNF drugs and/or DMARDs between 1 January 2001 and 31 December 2011. Cohort entry was defined as the date of first prescription of any of these drugs. We used Cox regression with three time-varying drug exposures: current use of DMARDs without biologics, current use of anti-TNF agents alone or in combination with DMARDs (anti-TNF ± DMARDs), and current non-use...
August 16, 2018: Scandinavian Journal of Rheumatology
Lucile Laporte, Coralie Hermetet, Youenn Jouan, Christophe Gaborit, Emmanuelle Rouve, Kimberly M Shea, Mustapha Si-Tahar, Pierre-François Dequin, Leslie Grammatico-Guillon, Antoine Guillon
BACKGROUND: The consequences of the ageing population concerning ICU hospitalisation need to be adequately described. We believe that this discussion should be disease specific. A focus on respiratory infections is of particular interest, because it is strongly associated with old age. Our objective was to assess trends in demographics over a decade among elderly patients admitted to the ICU for acute respiratory infections. METHODS: A cross-sectional study was performed between 2006 and 2015 based on hospital discharge databases in one French region (2...
August 15, 2018: Annals of Intensive Care
Rejeki Siti Ferniah, Rina Sri Kasiamdari, Achmadi Priyatmojo, Budi Setiadi Daryono
Cross-breeding is a method of producing progeny with better resistance to pathogens. Resistance to pathogens usually involves pathogenesis-related (PR) proteins. Class II chitinase is an example of a defensive PR protein in plants. The class II chitinase in chilli is coded by the CaChi 2 gene. In this study, we crossed susceptible with resistant chilli cultivars, analysed the F1 resistance response against pathogenic F. oxysporum , and analysed the level of CaChi 2 gene expression in the F1 . Data were collected using disease severity index (DSI) determination and gene expression analysis by qRT-PCR (quantitative Reverse Transcriptase Polymerase Chain Reaction)...
July 2018: Tropical Life Sciences Research
Wei Qin, Pengcheng Kang, Yi Xu, Kaiming Leng, Zhenglong Li, Lining Huang, Jianjun Gao, Yunfu Cui, Xiangyu Zhong
Cholangiocarcinoma (CCA) arising from the neoplastic transformation of cholangiocytes with increasing incidence in the worldwide. Unfortunately, a large amount of CCA patients lost their chance for surgery because it is hard to diagnose in the early stages. Long non-coding RNAs (lncRNAs) is closely associated with development and progression of various malignant tumors. Hox transcript antisense intergenic (HOTAIR), a negative prognostic factor for patients with gastric, liver and pancreatic carcinoma. Its transcription levels and functional roles in CCA is still unknown...
August 15, 2018: Scientific Reports
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"