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https://www.readbyqxmd.com/read/29334709/-molecular-epidemiological-study-of-human-coronavirus-oc43-in-shanghai-from-2009-2016
#1
Y J Yang, Y W Hu
Objective: To understand the epidemiological characteristics of Human coronavirus (HCoV), the patterns of emergence and circulation, and the genotype distribution of human coronavirus OC43 (HCoV-OC43) from November, 2009 to April, 2016 in Shanghai. Methods: A total of 6 059 respiratory specimens, including pharyngeal swab, sputum, nasopharyngeal aspirates and alveolar lavage fluid, as well as relative clinical data were collected from patients with acute respiratory infections from seven sentinel hospitals during November, 2009 to April, 2016 in Shanghai...
January 6, 2018: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/29334593/reanalysis-of-clinical-whole-exome-sequence-data-yields-multiple-new-diagnoses-a-time-intensive-but-successful-strategy-highlights-the-benefits-of-data-sharing-and-international-collaborations
#2
(no author information available yet)
No abstract text is available yet for this article.
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29334405/high-resolution-dental-mri-for-planning-palatal-graft-surgery-a-clinical-pilot-study
#3
Tim Hilgenfeld, Thorsten Kästel, Alexander Heil, Peter Rammelsberg, Sabine Heiland, Martin Bendszus, Franz Sebastian Schwindling
AIM: To evaluate whether high-resolution, non-contrast-enhanced dental MRI can be used for accurate determination of palatal-masticatory-mucosa-thickness (PMMT) and to locate the greater palatal artery (GPA). MATERIALS AND METHODS: In five volunteers (4 males, 1 female; mean age 30.2±0.4 years) two independent raters measured PMMT by use of dental MRI in 180 positions. For comparison, clinical bone sounding was performed. The GPA was identified in time-of-flight (TOF) angiography and MSVAT-SPACE-prototype sequence...
January 15, 2018: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/29334402/noninvasive-reconstruction-of-placental-methylome-from-maternal-plasma-dna-potential-for-prenatal-testing-and-monitoring
#4
Kun Sun, Fiona M F Lun, Tak Y Leung, Rossa W K Chiu, Y M Dennis Lo, Hao Sun
OBJECTIVE: During human pregnancy, the DNA methylation of placental tissue is highly relevant to the normal growth and development of the fetus, therefore methylomic analysis of the placental tissue possesses high research and clinical value in prenatal testing and monitoring. Thus our aim is to develop an approach for reconstruction of the placental methylome, which should be completely noninvasive and achieve high accuracy and resolution. RESULTS: We propose a novel size-based algorithm, FEMER, to noninvasively reconstruct the placental methylome by genomewide bisulfite sequencing and size-based analysis of maternal plasma DNA...
January 15, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29334134/a-comprehensive-next-generation-sequencing-assay-for-the-diagnosis-of-epidermolysis-bullosa
#5
Anne W Lucky, Neha Dagaonkar, Karen Lammers, Ammar Husami, Diane Kissell, Kejian Zhang
BACKGROUND: Historically, diagnosis of epidermolysis bullosa has required skin biopsies for electron microscopy, direct immunofluorescence to determine which gene(s) to choose for genetic testing, or both. METHODS: To avoid these invasive tests, we developed a high-throughput next-generation sequencing (NGS)-based diagnostic assay called EBSEQ that allows simultaneous detection of mutations in 21 genes with known roles in epidermolysis bullosa pathogenicity. Mutations are confirmed with traditional Sanger sequencing...
January 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29333776/-clinical-and-microbiologic-follow-up-evaluations-after-non-surgical-periodontal-treatment-with-nd-yag-laser-and-scaling-and-root-planning
#6
Yin Yanli, Xu Chunmei, Wu Yafei, Zhao Lei
OBJECTIVE: Our research aimed to detect the efficacy of non-surgical periodontal treatment with Nd: YAG laser and scaling and root planning (SRP) for chronic periodontitis. METHODS: We recruited chronic periodontitis patients who have more than four teeth with clinical pocket depth of 4-8 mm. These teeth were distributed in four different zones within the oral cavity. Moreover, the teeth were single root teeth and not adjacent to each other. The subordinated teeth were randomized into four groups, as follows: no treatment (C group), simple SRP (SRP group), Nd: YAG laser after SRP treatment (SRP+L group), and SRP after Nd: YAG laser treatment (L+SRP group)...
December 1, 2017: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/29333062/helicobacter-pylori-infection-and-esophageal-adenocarcinoma-a-review-and-a-personal-view
#7
REVIEW
Stergios A Polyzos, Christos Zeglinas, Fotini Artemaki, Michael Doulberis, Evangelos Kazakos, Panagiotis Katsinelos, Jannis Kountouras
Esophageal adenocarcinoma (EAC) is etiologically associated with gastroesophageal reflux disease (GERD). There is evidence to support the sequence GERD, Barrett's esophagus (BE), dysplasia, and finally EAC, with Helicobacter pylori (H. pylori) being implicated in each step to EAC. On the other side of this relation stands the hypothesis of the protective role of H. pylori against EAC. Based on this controversy, our aim was to review the literature, specifically original clinical studies and meta-analyses linking H...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29332568/fgf-21-as-a-potential-biomarker-for-mitochondrial-diseases
#8
Leila Motlagh Scholle, Diana Lehmann, Marcus Deschauer, Torsten Kraya, Stephan Zierz
The diagnosis of mitochondrial diseases is still challenging due to clinical and genetical heterogeneity. The development of advanced technologies including Whole-Exome-Sequencing (WES) and Whole-Genome-Sequencing (WGS) have led to improvements in genetic diagnosis. However, a reliable biomarker in serum could enhance and ease the diagnosis and indeed reduce the need for muscle biopsy. Several studies suggest Fibroblast growth factor 21 (FGF-21) as a biomarker for diagnosis in mitochondrial disorders. It is known, that in patients with mitochondrial disorders, the expression of FGF-21 gets elevated in an effort to counteract the underlying metabolic deficiency...
January 10, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29332123/braf-nras-and-gnaq-mutations-in-conjunctival-melanocytic-nevi
#9
Jasmine H Francis, Hans E Grossniklaus, Larissa A Habib, Brian Marr, David H Abramson, Klaus J Busam
Purpose: To evaluate BRAF, NRAS, and GNAQ mutations in surgical specimens of common and blue conjunctival melanocytic nevi. Methods: Surgical specimens from 25 conjunctival melanocytic nevi (23 common and 2 blue) of 25 patients were evaluated. All common nevi were analyzed immunohistochemically for the expression of BRAF V600E or NRAS Q61R. One lesion with negative immunoreactivity and for all blue nevi, a hybridization capture-based next-generation sequencing method was employed for mutation analysis...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29332035/an-aspartyl-cathepsin-targeted-pet-agent-application-in-an-alzheimer-s-disease-mouse-model
#10
Jonatan A Snir, Mojmir Suchy, Geron A Bindseil, Michael Kovacs, Blaine A Chronik, Robert H E Hudson, Stephen H Pasternak, Robert Bartha
BACKGROUND: Early detection of Alzheimer's disease (AD) pathology is a serious challenge for both diagnosis and clinical trials. The aspartyl protease, Cathepsin D (CatD), is overexpressed in AD and could be a biomarker of disease. We have previously designed a unique contrast agent (CA) for dual-optical and magnetic resonance imaging of the activity of the CatD class of enzymes. OBJECTIVE: To compare the uptake and retention of a novel, more sensitive, and clinically-translatable 68Ga PET tracer targeting CatD activity in 5XFAD mice and non-Tg littermates...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29331940/screening-and-functional-exploration-of-prothrombin-arg596-related-mutations-in-chinese-venous-thromboembolism-patients
#11
Xi Wu, Lei Li, Qiulan Ding, Xuefeng Wang, Fang Wu, Wenman Wu
AIMS: Dysfunctional prothrombin residue Arg596 associated mutation has been found to precipitate venous thromboembolism (VTE). In the current study we investigated the prevalence of Arg596 associated mutations in Chinese patients with VTE and explored the functional impact of Arg596Gln mutation on coagulation function in affected patients. METHODS: Prothrombin clotting activity was measured in 267 unrelated patients with unprovoked VTE. Patients with moderately decreased activities underwent further analysis of the F2 gene...
January 13, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29331901/an-ultrasensitive-detection-of-mirna-155-in-breast-cancer-via-direct-hybridization-assay-using-two-dimensional-molybdenum-disulfide-field-effect-transistor-biosensor
#12
Samira Mansouri Majd, Abdollah Salimi, Foad Ghasemi
MicroRNAs (miRNAs), critical biomarkers of acute and chronic diseases, play key regulatory roles in many biological processes. As a result, robust assay platforms to enable an accurate and efficient detection of low-level miRNAs in complex biological samples are of great significance. In this work, a label-free and direct hybridization assay using molybdenum disulfide (MoS2) field-effect transistor (FET) biosensor has been developed for ultrasensitive detection of miRNA-155 as a breast cancer biomarker in human serum and cell-line samples...
January 6, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29331890/deep-sequence-analysis-reveals-the-ovine-rumen-as-a-reservoir-of-antibiotic-resistance-genes
#13
Thomas C A Hitch, Ben J Thomas, Jessica C A Friedersdorff, Helen Ougham, Christopher J Creevey
Antibiotic resistance is an increasingly important environmental pollutant with direct consequences for human health. Identification of environmental sources of antibiotic resistance genes (ARGs) makes it possible to follow their evolution and prevent their entry into the clinical setting. ARGs have been found in environmental sources exogenous to the original source and previous studies have shown that these genes are capable of being transferred from livestock to humans. Due to the nature of farming and the slaughter of ruminants for food, humans interact with these animals in close proximity, and for this reason it is important to consider the risks to human health...
January 11, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29331494/a-novel-difficult-airway-prediction-tool-for-emergency-airway-management-validation-of-the-heaven-criteria-in-a-large-air-medical-cohort
#14
Edward Kuzmack, Travis Inglis, David Olvera, Allen Wolfe, Kona Seng, Daniel Davis
BACKGROUND: Difficult-airway prediction tools help identify optimal airway techniques, but were derived in elective surgery patients and may not be applicable to emergency rapid sequence intubation (RSI). The HEAVEN criteria (Hypoxemia, Extremes of size, Anatomic abnormalities, Vomit/blood/fluid, Exsanguination, Neck mobility issues) may be more relevant to emergency RSI patients. OBJECTIVE: To validate the HEAVEN criteria for difficult-airway prediction in emergency RSI using a large air medical cohort...
January 10, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29331453/are-privacy-enhancing-technologies-for-genomic-data-ready-for-the-clinic-a-survey-of-medical-experts-of-the-swiss-hiv-cohort-study
#15
Jean-Louis Raisaro, Paul J McLaren, Jacques Fellay, Matthias Cavassini, Catherine Klersy, Jean-Pierre Hubaux
PURPOSE: Protecting patient privacy is a major obstacle for the implementation of genomic-based medicine. Emerging privacy-enhancing technologies can become key enablers for managing sensitive genetic data. We studied physicians' attitude toward this kind of technology in order to derive insights that might foster their future adoption for clinical care. METHODS: We conducted a questionnaire-based survey among 55 physicians of the Swiss HIV Cohort Study who tested the first implementation of a privacy-preserving model for delivering genomic test results...
January 10, 2018: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/29331320/zika-dengue-and-yellow-fever-viruses-induce-differential-anti-viral-immune-responses-in-human-monocytic-and-first-trimester-trophoblast-cells
#16
Huanle Luo, Evandro R Winkelmann, Ildefonso Fernandez-Salas, Li Li, Sandra V Mayer, Rogelio Daniz-Lozano, Rosa Ma Sanchez-Casas, Nikos Vasilakis, Robert Tesh, Alan D Barrett, Scott C Weaver, Tian Wang
Zika virus (ZIKV) is a mosquito-borne flavivirus associated with severe neonatal birth defects, but the causative mechanism is incompletely understood. ZIKV shares sequence homology and early clinical manifestations with yellow fever virus (YFV) and dengue virus (DENV) and are all transmitted in urban cycles by the same species of mosquitoes. However, YFV and DENV have been rarely reported to cause congenital diseases. Here, we compared infection with a contemporary ZIKV strain (FSS13025) to YFV17D and DENV-4 in human monocytic cells (THP-1) and first-trimester trophoblasts (HTR-8)...
January 10, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29331079/lmod3-associated-nemaline-myopathy-prenatal-ultrasonographic-pathologic-and-molecular-findings
#17
Michal Berkenstadt, Ben Pode-Shakked, Ortal Barel, Hila Barash, Reuven Achiron, Yinon Gilboa, Dvora Kidron, Annick Raas-Rothschild
To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3-related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy. To establish a molecular diagnosis, whole-exome sequencing was pursued for the affected fetuses. Nemaline myopathy is a common form of congenital myopathy manifesting with nonprogressive generalized muscle weakness, hypotonia, and electron-dense protein inclusions in skeletal myofibers...
January 13, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29330883/genotype-phenotype-correlations-in-individuals-with-pathogenic-rere-variants
#18
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci, Melissa T Carter, John A Bernat, Amanda N Moccia, Anshika Srivastava, Donna M Martin, Stephanie L Bielas, John Pappas, Melissa D Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M Lewis, Fernando Scaglia, Jennefer N Kohler, Jonathan A Bernstein, Annika M Dries, Jill A Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H Sherr, Weimin Bi, Daryl A Scott
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies and sensorineural hearing loss when compared to loss-of-function variants that are likely to lead to haploinsufficiency...
January 13, 2018: Human Mutation
https://www.readbyqxmd.com/read/29330853/transnasal-humidified-rapid-insufflation-ventilatory-exchange-thrive-vs-facemask-breathing-pre-oxygenation-for-rapid-sequence-induction-in-adults-a-prospective-randomised-non-blinded-clinical-trial
#19
Å Lodenius, J Piehl, A Östlund, J Ullman, M Jonsson Fagerlund
Transnasal humidified rapid-insufflation ventilatory exchange (THRIVE) can prolong apnoea time in adults. Therefore, THRIVE used for pre-oxygenation in rapid sequence induction of anaesthesia could extend safe apnoea time during prolonged laryngoscopy and intubation. In this randomised controlled trial, we compared the lowest peripheral oxygen saturation (SpO2 ) during intubation when pre-oxygenating with either traditional facemask or THRIVE. Eighty adult patients, undergoing rapid sequence induction of anaesthesia for emergency surgery, were randomly allocated to pre-oxygenation with 100% oxygen with facemask or with THRIVE...
January 13, 2018: Anaesthesia
https://www.readbyqxmd.com/read/29330750/immunologic-and-gene-expression-profiles-of-spontaneous-canine-oligodendrogliomas
#20
Anna Filley, Mario Henriquez, Tanmoy Bhowmik, Brij Nath Tewari, Xi Rao, Jun Wan, Margaret A Miller, Yunlong Liu, R Timothy Bentley, Mahua Dey
Malignant glioma (MG), the most common primary brain tumor in adults, is extremely aggressive and uniformly fatal. Several treatment strategies have shown significant preclinical promise in murine models of glioma; however, none have produced meaningful clinical responses in human patients. We hypothesize that introduction of an additional preclinical animal model better approximating the complexity of human MG, particularly in interactions with host immune responses, will bridge the existing gap between these two stages of testing...
January 12, 2018: Journal of Neuro-oncology
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