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https://www.readbyqxmd.com/read/29679929/a-phylogenetic-framework-facilitates-y-str-variant-discovery-and-classification-via-massively-parallel-sequencing
#1
Tunde I Huszar, Mark A Jobling, Jon H Wetton
Short tandem repeats on the male-specific region of the Y chromosome (Y-STRs) are permanently linked as haplotypes, and therefore Y-STR sequence diversity can be considered within the robust framework of a phylogeny of haplogroups defined by single nucleotide polymorphisms (SNPs). Here we use massively parallel sequencing (MPS) to analyse the 23 Y-STRs in Promega's prototype PowerSeq™ Auto/Mito/Y System kit (containing the markers of the PowerPlex® Y23 [PPY23] System) in a set of 100 diverse Y chromosomes whose phylogenetic relationships are known from previous megabase-scale resequencing...
April 12, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29679895/ingredientes-farmac%C3%A3-uticos-activos-potencialmente-inapropiados-en-adultos-mayores-lista-ifaspiam-panel-de-consenso-argentino
#2
Marta M Marzi, Miryam S Pires, Nora B Quaglia
OBJECTIVES: To perform a list agreed by Argentinean experts and adapted to the local context containing potentially inappropriate (PI) medications in old people (OP) usingthe Delphi consensus technique optimized for this subject. METHODS: A preliminary list of potentially inappropriate medications (PIM) was drawn up based on foreign PIM lists and a selective search in the scientific literature. The iterative Delphi process was used to submit the active pharmaceutical ingredients (APIs) of the preliminary PIM list to the panel of Argentinean experts...
April 18, 2018: Value in Health Regional Issues
https://www.readbyqxmd.com/read/29679837/development-of-a-stacked-ensemble-model-for-forecasting-and-analyzing-daily-average-pm-2-5-concentrations-in-beijing-china
#3
Binxu Zhai, Jianguo Chen
A stacked ensemble model is developed for forecasting and analyzing the daily average concentrations of fine particulate matter (PM2.5 ) in Beijing, China. Special feature extraction procedures, including those of simplification, polynomial, transformation and combination, are conducted before modeling to identify potentially significant features based on an exploratory data analysis. Stability feature selection and tree-based feature selection methods are applied to select important variables and evaluate the degrees of feature importance...
April 18, 2018: Science of the Total Environment
https://www.readbyqxmd.com/read/29679687/a-novel-technique-indocyanine-green-angiography-to-prognosticate-healing-of-foot-ulcer-in-critical-limb-ischemia
#4
Hiten M Patel, Shahzad S Bulsara, Shubhabrata Banerjee, Tapish Sahu, Virender K Sheorain, Tarun Grover, Rajiv Parakh
BACKGROUND: To predict wound healing in patients with critical limb ischemia(CLI) is ongoing issue. Currents methods like ankle-brachial index (ABI), color doppler and transcutaneous oxygen pressure (TCPO2 ), CT angiography are lacking in demonstrating regional perfusion. Indocyanine green angiography (ICGA) has the potential to provide regional perfusion information lacking in other methods. To demonstrate successes of revascularization procedure in CLI patients based on ICGA data this study was conducted...
April 18, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29679685/identifying-and-characterizing-highly-similar-notes-in-big-clinical-note-datasets
#5
Rodney A Gabriel, Tsung-Ting Kuo, Julian McAuley, Chun-Nan Hsu
BACKGROUND: Big clinical note datasets found in electronic health records (EHR) present substantial opportunities to train accurate statistical models that identify patterns in patient diagnosis and outcomes. However, near-to-exact duplication in note texts is a common issue in many clinical note datasets. We aimed to use a scalable algorithm to de-duplicate notes and further characterize the sources of duplication. METHODS: We use an approximation algorithm to minimize pairwise comparisons consisting of three phases: 1) Minhashing with Locality Sensitive Hashing; 2) a clustering method using tree-structured disjoint sets; and 3) classification of near-duplicates (exact copies, common machine output notes, or similar notes) via pairwise comparison of notes in each cluster...
April 18, 2018: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/29679643/classification-and-experimental-identification-of-plant-long-non-coding-rnas
#6
Muneeza I Rai, Maheen Alam, David A Lightfoot, Priyatansh Gurha, Ahmed J Afzal
Our understanding of gene regulation is constantly evolving. It is now clear that the majority of cellular transcripts are non-coding RNAs. The spectrum of non-coding RNAs is diverse and includes short (<200 nt) and long non-coding RNAs (lncRNAs) (>200 nt). LncRNAs regulate gene expression through diverse mechanisms. In this review, we describe the emerging roles of lncRNA mediated plant gene regulation. We discuss the current classification of lncRNAs and their role in genome organization and gene regulation...
April 18, 2018: Genomics
https://www.readbyqxmd.com/read/29679510/molecular-characteristics-of-multifocal-brain-histiocytic-sarcoma
#7
Florent Marguet, Nicolas Piton, Homa Adle-Biassette, Florence Renaud, Elodie Bohers, Thomas Boyer, Aline Zarea, Stéphane Derrey, Jean Christophe Sabourin, Annie Laquerrière
Histiocytic sarcoma (HS) is a very uncommon malignant proliferation accounting for less than 1% of all neoplasms of hematopoietic and lymphoid tissues. According to the 2008 WHO classification of haematological and lymphoid tumours, diagnosis of HS requires histological and immunohistochemical evidence of histiocytic differentiation [1]. The 2016 Central nervous system (CNS) WHO classification parallels the categories of the corresponding WHO classification of hematopoietic and lymphoid tissues. By definition, diagnosis of HS relies on the expression of at least two of the histiocytic markers, e...
April 21, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29679500/a-unified-material-decomposition-framework-for-quantitative-dual-and-triple-energy-ct-imaging
#8
Wei Zhao, Don Vernekohl, Fei Han, Bin Han, Hao Peng, Yong Yang, Lei Xing, James K Min
PURPOSE: Many clinical applications depend critically on the accurate differentiation and classi-fication of different types of materials in patient anatomy. This work introduces a unified framework for accurate nonlinear material decomposition and applies it, for the first time, in the concept of triple-energy CT (TECT) for enhanced material differentiation and classification as well as dual-energy CT METHODS: We express polychromatic projection into a linear combination of line integrals of material-selective images...
April 21, 2018: Medical Physics
https://www.readbyqxmd.com/read/29679437/preoperative-platelet-count-is-associated-with-increased-risk-of-posthepatectomy-grade-a-liver-failure-in-right-lobe-donors-for-liver-transplantation
#9
Kenji Yoshino, Kojiro Taura, Yoshinobu Ikeno, Yukihiro Okuda, Takahiro Nishio, Gen Yamamoto, Satoru Seo, Shintaro Yagi, Koichiro Hata, Toshimi Kaido, Hideaki Okajima, Shinji Uemoto
Living donor right hepatectomy (LDRH) is a common procedure in adult-to-adult living donor liver transplantation (LDLT), but is associated with a higher risk of posthepatectomy liver failure (PHLF) compared with left hepatectomy because of a smaller remnant. We identified risk factors for PHLF and other complications in LDRH, verified the appropriateness of the criteria, and explored the possibility of adjusting the minimum RLV based on individual risk. Between October 2005 and November 2017, 254 donors undergoing LDRH at Kyoto University Hospital were enrolled...
April 20, 2018: Liver Transplantation
https://www.readbyqxmd.com/read/29679371/fitting-the-epigenome-into-the-picture-methylation-classification-for-paediatric-brain-tumours
#10
EDITORIAL
J A Cotter, A R Judkins
Meaningful classification of paediatric brain tumours has been a topic of revived discussion in the current era of molecular analysis. In recent years, we have seen the practice of diagnostic neuropathology not only incorporate routine biomarker interpretation (e.g. INI1/SMARCB1 and BRAF V600E immunohistochemistry), but also extend its reach into the molecular pathology laboratory. Next-generation sequencing, fusion analysis, and copy number profiling are now commonly-employed diagnostic tools, particularly in histologically challenging or clinically difficult cases...
April 20, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29679364/estimates-of-medication-expenditure-for-ischemic-heart-disease-accompanying-chronic-obstructive-pulmonary-disease
#11
Edyta Rysiak, Izabela Prokop, Ilona Zaręba, Robert M Mróz
Ischemic heart disease (IHD) is a frequent accompaniment of chronic obstructive pulmonary disease (COPD). Co-occurrence of these two diseases is associated with many risk factors, difficulties in implementing appropriate therapies, numerous complications, and high spending for treatment. All these elements significantly reduce the quality of life of patients. The aim of this study was to estimate the expenditure for medications involved with IHD pharmacotherapy in the course of COPD. This retrospective study was based on the review of medical files of 57 patients, 27 women and 30 men, diagnosed with IHD, according to the severity classification, in the course of COPD which was staged according to the GOLD criteria...
April 21, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29679299/impact-of-computer-aided-ct-and-pet-analysis-on-non-invasive-t-staging-in-patients-with-lung-cancer-and-atelectasis
#12
Paul Flechsig, Ramin Rastgoo, Clemens Kratochwil, Ole Martin, Tim Holland-Letz, Alexander Harms, Hans-Ulrich Kauczor, Uwe Haberkorn, Frederik L Giesel
PURPOSE: Tumor delineation within an atelectasis in lung cancer patients is not always accurate. When T staging is done by integrated 2-deoxy-2-[18 F]fluoro-D-glucose ([18 F]FDG)-positron emission tomography (PET)/X-ray computer tomography (CT), tumors of neuroendocrine differentiation and slowly growing tumors can present with reduced FDG uptake, thus aggravating an exact T staging. In order to further exhaust information derived from [18 F]FDG-PET/CT, we evaluated the impact of CT density and maximum standardized uptake value (SUVmax) for the classification of different tumor subtypes within a surrounding atelectasis, as well as possible cutoff values for the differentiation between the primary tumor and atelectatic lung tissue...
April 20, 2018: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
https://www.readbyqxmd.com/read/29679272/steam-jet-mill-a-prospective-solution-to-industrial-exhaust-steam-and-solid-waste
#13
Mingxing Zhang, Haiyan Chen
Bulk industrial solid wastes occupy a lot of our resources and release large amounts of toxic and hazardous substances to the surrounding environment, demanding innovative strategies for grinding, classification, collection, and recycling for economically ultrafine powder. A new technology for grinding, classification, collection, and recycling solid waste is proposed, using the superheated steam produced from the industrial exhaust steam to disperse, grind, classify, and collect the industrial solid waste...
April 20, 2018: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29679127/-basic-principles-of-diagnosis-and-treatment-of-gliomas
#14
REVIEW
H-G Wirsching, T Weiss, P Roth, M Weller
BACKGROUND: Traditionally, gliomas were classified based on histopathological features alone. The revised World Health Organization (WHO) classification of tumors of the central nervous system from 2016 integrated molecular features into the histopathological diagnosis. OBJECTIVE: To summarize key aspects of the WHO classification from 2016 and implications for the clinical management of glioma patients. An overview of novel treatment approaches is also provided...
April 20, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29679116/arthroscopic-treatment-for-intratendinous-rotator-cuff-tear-results-in-satisfactory-clinical-outcomes-and-structural-integrity
#15
Sang Jin Cheon, Hyo Yeol Lee, Woong Ki Jeon
PURPOSE: This study aimed to evaluate the clinical outcomes and structural integrity of arthroscopic repair of intratendinous rotator cuff tear. METHODS: Patients who were diagnosed with an intratendinous tear but in whom conservative treatment failed were selected and underwent arthroscopic repair. Between 2008 and 2014, a total of 30 patients (6 men, 24 women; mean age, 59 ± 3.7 years) met the inclusion criteria and were followed up. The mean follow-up period was 26...
April 20, 2018: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/29679055/towards-annotating-the-plant-epigenome-the-arabidopsis-thaliana-small-rna-locus-map
#16
Thomas J Hardcastle, Sebastian Y Müller, David C Baulcombe
Based on 98 public and internal small RNA high throughput sequencing libraries, we mapped small RNAs to the genome of the model organism Arabidopsis thaliana and defined loci based on their expression using an empirical Bayesian approach. The resulting loci were subsequently classified based on their genetic and epigenetic context as well as their expression properties. We present the results of this classification, which broadly conforms to previously reported divisions between transcriptional and post-transcriptional gene silencing small RNAs, and to PolIV and PolV dependencies...
April 20, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29679032/comparison-of-an-unsupervised-machine-learning-algorithm-and-surgeon-diagnosis-in-the-clinical-differentiation-of-metopic-craniosynostosis-and-benign-metopic-ridge
#17
Min-Jeong Cho, Rami R Hallac, Maleeh Effendi, James R Seaward, Alex A Kane
Metopic suture closure can manifest as a benign metopic ridge (BMR), a variant of normal, to "true" metopic craniosynostosis (MCS), which is associated with severe trigonocephaly. Currently, there is no gold standard for how much associated orbitofrontal dysmorphology should trigger surgical intervention. In our study, we used three-dimensional (3D) curvature analysis to separate the phenotypes along the spectrum, and to compare surgeons' thresholds for operation. Three-dimensional curvature analyses on 43 subject patients revealed that the mean curvature of mid-forehead vertical ridge was higher for patients who underwent operation than those who did not undergo operation by 1...
April 20, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29678984/validating-malignant-melanoma-icd-9-cm-codes-in-umbria-asl-napoli-3-sud-and-friuli-venezia-giulia-administrative-healthcare-databases-a-diagnostic-accuracy-study
#18
Massimiliano Orso, Diego Serraino, Iosief Abraha, Mario Fusco, Gianni Giovannini, Paola Casucci, Francesco Cozzolino, Annalisa Granata, Michele Gobbato, Fabrizio Stracci, Valerio Ciullo, Maria Francesca Vitale, Paolo Eusebi, Walter Orlandi, Alessandro Montedori, Ettore Bidoli
OBJECTIVES: To assess the accuracy of International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes in identifying subjects with melanoma. DESIGN: A diagnostic accuracy study comparing melanoma ICD-9-CM codes (index test) with medical chart (reference standard). Case ascertainment was based on neoplastic lesion of the skin and a histological diagnosis from a primary or metastatic site positive for melanoma. SETTING: Administrative databases from Umbria Region, Azienda Sanitaria Locale (ASL) Napoli 3 Sud (NA) and Friuli Venezia Giulia (FVG) Region...
April 20, 2018: BMJ Open
https://www.readbyqxmd.com/read/29678975/incidence-of-superficial-venous-thrombosis-in-primary-care-and-risk-of-subsequent-venous-thromboembolic-sequelae-a-retrospective-cohort-study-performed-with-routine-healthcare-data-from-the-netherlands
#19
Geert-Jan Geersing, Selma Cazemier, Frans Rutten, David A Fitzmaurice, Arno W Hoes
OBJECTIVES: Recent studies in referred populations of patients with superficial venous thrombosis (SVT) report risks of venous thromboembolic (VTE) sequelae (deep vein thrombosis or pulmonary embolism) as high as 25%. Likely, these estimates are lower in non-referred patients, but large-scale population-based studies are lacking. We aimed to estimate the incidence rate of SVT in primary care and quantify its risk of VTE sequelae. DESIGN: A retrospective cohort study, using International Classification of Primary Care coding (K94...
April 20, 2018: BMJ Open
https://www.readbyqxmd.com/read/29678961/-capn1-mutations-broadening-the-hereditary-spastic-paraplegia-spinocerebellar-ataxia-phenotype
#20
Jeffrey Lambe, Bernadette Monaghan, Tudor Munteanu, Janice Redmond
Increasing availability of next-generation sequencing technologies has revealed several limitations of diagnosis-driven traditional clinicogenetic disease classifications, particularly among patients with an atypical or mixed phenotype. Hereditary spastic paraplegia (HSP) and spinocerebellar ataxia (SCA) are two such disease entities with an often overlapping presentation, in which next generation exome sequencing has played a key role in identification of genes causing disease along a continuum of ataxia and spasticity...
April 20, 2018: Practical Neurology
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