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Genomics clinical

Maria Keller, Matthias Klös, Kerstin Rohde, Jacqueline Krüger, Tabea Kurze, Arne Dietrich, Michael R Schön, Daniel Gärtner, Tobias Lohmann, Miriam Dreßler, Michael Stumvoll, Matthias Blüher, Peter Kovacs, Yvonne Böttcher
DNA methylation is a crucial epigenetic mechanism in obesity and fat distribution. We explored the Sarcospan ( SSPN) gene locus by using genome-wide data sets comprising methylation and expression data, pyrosequencing analysis in the promoter region, and genetic analysis of an SNP variant rs718314, which was previously reported to associate with waist-to-hip ratio. We found that DNA methylation influences several clinical variables related to fat distribution and glucose metabolism, while SSPN mRNA levels showed directionally opposite effects on these traits...
June 22, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Susan Persky, William D Kistler, William M P Klein, Rebecca A Ferrer
Current models of genomic information provision will be unable to handle large-scale clinical integration of genomic information, as may occur in primary care settings. Therefore, adoption of digital tools for genetic and genomic information provision is anticipated, primarily using Internet-based, distributed approaches. The emerging consumer communication platform of virtual reality (VR) is another potential intermediate approach between face-to-face and distributed Internet platforms to engage in genomics education and information provision...
June 22, 2018: Cyberpsychology, Behavior and Social Networking
A Sprygin, Y Pestova, P Prutnikov, A Kononov
Since 2012, lumpy skin disease virus (LSDV) has been spreading from the Middle East to south-east Europe and Russia. Although vaccination campaigns have managed to contain LSDV outbreaks, the risk of further spread is still high. The most likely route of LSDV transmission in short distance spread is vector-borne. Several arthropod species have been suggested as potential vectors, but no proven vector has yet been identified. To check whether promiscuous-landing synanthropic flies such as the common housefly (Musca domestica) could be involved, we carried out entomological trapping at the site of a recent LSDV outbreak caused by a vaccine-like LSDV strain...
June 22, 2018: Transboundary and Emerging Diseases
Elizabeth G Bannister, Lilly Yuen, Margaret Littlejohn, Rosalind Edwards, Vitina Sozzi, Danni Colledge, Xin Li, Stephen Locarnini, Winita Hardikar, Peter A Revill
Migration from sub-Saharan Africa is contributing to the rising incidence of chronic hepatitis B (CHB) infection and its complications in Australia. African CHB is associated with unique genotypes, such as E and A1, which are associated with reduced vaccine efficacy and early-onset hepatocellular carcinoma, respectively, although the prevalence of these genotypes outside Africa is poorly described. Treatment-naïve children of African origin with CHB were recruited at the Royal Children's Hospital Melbourne...
June 22, 2018: Journal of General Virology
Cosmika Goswami, Stephen Fox, Matthew Holden, Martin Connor, Alistair Leanord, Thomas J Evans
Bacteraemia caused by Escherichia coli is a growing problem with a significant mortality. The factors that influence the acquisition and outcome of these infections are not clear. Here, we have linked detailed genetic data from the whole-genome sequencing of 162 bacteraemic isolates collected in Scotland, UK, in 2013-2015, with clinical data in order to delineate bacterial and host factors that influence the acquisition in hospital or the community, outcome and antibiotic resistance. We identified four major sequence types (STs) in these isolates: ST131, ST69, ST73 and ST95...
June 22, 2018: Microbial Genomics
Ahmed A Moustafa, Hogyoung Kim, Rasha S Albeltagy, Ola H El-Habit, Asim B Abdel-Mageed
MicroRNAs (miRNAs) are a small functional non-coding RNAs that post-transcriptionally regulate gene expression through mRNA degradation or translational repression. miRNAs are key regulatory components of various cellular networks. Current evidence support that multiple mammalian genome-encoded miRNAs impact the cellular biology, including proliferation, apoptosis, differentiation, and tumorigenesis, by targeting specific subsets of mRNAs. This minireview is focused on the current themes underlying the interactions between miRNAs and their mRNA targets and pathways in prostate tumorigenesis and progression, and their potential clinical utility as biomarkers for prostate cancer...
June 2018: Experimental Biology and Medicine
Jennifer A Ciarochi, Jingyu Liu, Vince Calhoun, Hans Johnson, Maria Misiura, H Jeremy Bockholt, Flor A Espinoza, Arvind Caprihan, Sergey Plis, Jessica A Turner, Jane S Paulsen
This study assessed how BDNF (brain-derived neurotrophic factor) and other genes involved in its signaling influence brain structure and clinical functioning in pre-diagnosis Huntington's disease (HD). Parallel independent component analysis (pICA), a multivariate method for identifying correlated patterns in multimodal datasets, was applied to gray matter concentration (GMC) and genomic data from a sizeable PREDICT-HD prodromal cohort ( N = 715). pICA identified a genetic component highlighting NTRK2 , which encodes BDNF's TrkB receptor, that correlated with a GMC component including supplementary motor, precentral/premotor cortex, and other frontal areas ( p < 0...
June 22, 2018: Brain Sciences
Lori A Ramkissoon, Nicholas Britt, Alexander Guevara, Emily Whitt, Eric Severson, Pratheesh Sathyan, Laurie Gay, Julia Elvin, Jeffrey S Ross, Charlotte Brown, Kimberly Stogner-Underwood, Ryan Mott, David Kram, Roy Strowd, Glenn J Lesser, Shakti H Ramkissoon
In recent years, large-scale genomic studies have expanded our knowledge regarding genomic drivers in tumors of the central nervous system. While histopathologic analysis of brain tumors remains the primary method for tumor classification, the clinical utility of molecular and genomic testing to support and/or complement tumor classification continues to expand. This approach enhances diagnostic accuracy and provides clinicians with objective data to facilitate discussions regarding prognosis and treatment decisions, including selection of clinical trials...
June 21, 2018: Current Treatment Options in Oncology
Francesco Soria, Michael J Droller, Yair Lotan, Paolo Gontero, David D'Andrea, Kilian M Gust, Morgan Rouprêt, Marek Babjuk, Joan Palou, Shahrokh F Shariat
OBJECTIVES: With the advent of novel genomic and transcriptomic technologies, new urinary biomarkers have been identified and tested for bladder cancer (BCa) surveillance. To summarize the current status of urinary biomarkers for the detection of recurrence and/or progression in the follow-up of non-muscle invasive BCa patients, and to assess the value of urinary biomarkers in predicting response to intravesical Bacillus Calmette-Guerin (BCG) therapy. METHODS AND MATERIALS: A medline/pubmed© literature search was performed...
June 21, 2018: World Journal of Urology
Chloé Sarnowski, Marie-France Hivert
PURPOSE OF REVIEW: Glycated hemoglobin (A1c) is used to diagnose type 2 diabetes and monitor glycemic control. Specific genetic variants interfere with A1c and effects/frequencies of some variants vary by ancestry. In this review, we summarize findings from large trans-ethnic meta-analyses of genome-wide association studies (GWAS) of A1c and describe some variants influencing erythrocyte biology and interfering with A1c. RECENT FINDINGS: Recent GWAS meta-analyses have revealed 60 loci associated with A1c in multi-ethnic populations...
June 21, 2018: Current Diabetes Reports
Jennifer N Todd, Shylaja Srinivasan, Toni I Pollin
PURPOSE OF REVIEW: To provide an update on knowledge the role of genetics in youth-onset type 2 diabetes (T2D). RECENT FINDINGS: The prevalence in youth of T2D, once thought to be exclusively a disease of adults, has increased by over 35% since 2001. Youth with T2D tend to have higher rates of complications, more aggressive disease, with more rapid loss of beta-cell function and a less favorable response to treatment than adults. Obesity is the most important risk factor for T2D, and the rise in childhood overweight and obesity appears responsible for the dramatic increase in T2D in youth...
June 22, 2018: Current Diabetes Reports
Elias Jabbour, Ching-Hon Pui, Hagop Kantarjian
Importance: Remarkable progress has occurred in understanding the pathophysiology and in developing improved personalized therapies in adult acute lymphoblastic leukemia (ALL). Observations: We searched MEDLINE (1990-2018), the American Society of Clinical Oncology, and American Society of Hematology websites (2010-2018). We used the search terms "acute lymphoblastic or lymphocytic leukemia" or "ALL." We largely selected publications in the past 5 years but did not exclude commonly referenced and highly regarded older publications...
June 21, 2018: JAMA Oncology
Fan Zhao, Lina Niu, Jinqing Nong, Chunmei Wang, Jing Wang, Yan Liu, Naishu Gao, Xiaoxue Zhu, Lei Wu, Shoukui Hu
Pseudomonas aeruginosa causes nosocomial infections of burn patients and other immunocompromised individuals, but the conventional diagnosis of P. aeruginosa infection depends on time-consuming culture-based methods. Hence, a simple, fast, sensitive technique for detection of P. aeruginosa using multiple cross displacement amplification (MCDA) and gold nanoparticle-based lateral flow biosensors (LFB) was developed. By using this technique, the reaction could be completed at an optimized constant temperature (67°C) within only 40 min...
June 19, 2018: FEMS Microbiology Letters
Taylor E Woo, Rachel Lim, Michael G Surette, Barbara Waddell, Joel C Bowron, Ranjani Somayaji, Jessica Duong, Christopher H Mody, Harvey R Rabin, Douglas G Storey, Michael D Parkins
The natural history and epidemiology of Pseudomonas aeruginosa infections in non-cystic fibrosis (non-CF) bronchiectasis is not well understood. As such it was our intention to determine the evolution of airway infection and the transmission potential of P. aeruginosa in patients with non-CF bronchiectasis. A longitudinal cohort study was conducted from 1986-2011 using a biobank of prospectively collected isolates from patients with non-CF bronchiectasis. Patients included were ≥18 years old and had ≥2 positive P...
April 2018: ERJ Open Research
Wolfgang Lieb, Ramachandran S Vasan
Longitudinal, well phenotyped, population-based cohort studies offer unique research opportunities in the context of genome-wide association studies (GWAS), including GWAS for new-onset (incident) cardiovascular disease (CVD) events, the assessment of gene x lifestyle interactions, and evaluating the incremental predictive utility of genetic information in apparently healthy individuals. Furthermore, comprehensively phenotyped community-dwelling samples have contributed to GWAS of numerous traits that reflect normal organ function (e...
2018: Frontiers in Cardiovascular Medicine
Saadiah Goolam, Nadia Carstens, Mark Ross, David Bentley, Margarida Lopes, John Peden, Zoya Kingsbury, Eleni Tsogka, Robyn Barlow, Trevor R Carmichael, Michèle Ramsay, Susan E Williams
Purpose: To report on a clinical and genetic investigation of a large, multigenerational South African family of mixed ancestry with autosomal dominant congenital cataracts, coloboma, and nystagmus. Methods: Ophthalmic examination was performed in 27 individuals from the same admixed South African family. DNA was sampled from either peripheral blood or buccal swabs in all 27 individuals, and whole genome sequencing was performed in six individuals. Sanger sequencing was used to validate the probable mutation in the remaining family members...
2018: Molecular Vision
Jasmine Lee-Barber, Violet Kulo, Harold Lehmann, Ada Hamosh, Joann Bodurtha
PURPOSE: Given advances in genomic medicine, medical students need increased confidence in clinical genetics skills to address multiple genetic conditions. After success of first-year medical school instruction in the Online Mendelian Inheritance in Man (OMIM®) database, we report the impact on gaining confidence in broad clinical genetics skills in 5 subsequent years. METHODS: We collected 5 years of successive pre- and postintervention survey based self-assessments on medical student use of genetic medicine information resources and confidence in genetic medicine skills...
June 21, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Kuo-Ming Lee, Yu-Nong Gong, Tzu-Hsuan Hsieh, Andrew Woodman, Nynke H Dekker, Craig E Cameron, Shin-Ru Shih
Enterovirus A71 (EV-A71) is an important nonpolio enterovirus that causes severe neurological complications. In 1998, Taiwan experienced an EV-A71 outbreak that caused 78 deaths. Since then, periodic epidemics of EV-A71 associated with newly emerging strains have occurred. Several of these strains are known to be recombinant; however, how these strains arose within such a short period of time remains unknown. Here, we sequenced 64 full-length genomes from clinical isolates collected from 2005 to 2016 and incorporated all 91 Taiwanese genomes downloaded from the Virus Pathogen Resource to extensively analyze EV-A71 recombination in Taiwan...
June 21, 2018: Emerging Microbes & Infections
Sarah Lepuschitz, Steliana Huhulescu, Patrick Hyden, Burkhard Springer, Thomas Rattei, Franz Allerberger, Robert L Mach, Werner Ruppitsch
The increasing emergence of multi-resistant bacteria in healthcare settings, in the community and in the environment represents a major health threat worldwide. In 2016, we started a pilot project to investigate antimicrobial resistance in surface water. Bacteria were enriched, cultivated on selective chromogenic media and species identification was carried out by MALDI-TOF analysis. From a river in southern Austria a methicillin resistant Staphylococcus aureus (MRSA) was isolated. Whole genome sequence analysis identified the isolate as ST8, spa type t008, SCCmecIV, PVL and ACME positive, which are main features of CA-MRSA USA300...
June 21, 2018: Scientific Reports
Shouji Yamamoto, Ken-Ichi Lee, Masatomo Morita, Eiji Arakawa, Hidemasa Izumiya, Makoto Ohnishi
We report here the complete genome sequence of the Vibrio cholerae O1 bv. El Tor Ogawa strain V060002, isolated in 1997. The data demonstrate that this clinical strain has a single chromosome resulting from recombination of two prototypical chromosomes.
June 21, 2018: Genome Announcements
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