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https://www.readbyqxmd.com/read/28081574/gstp1-and-cyp2b6-genetic-polymorphisms-and-the-risk-of-bronchopulmonary-dysplasia-in-preterm-neonates
#1
Sophia Zachaki, Aggeliki Daraki, Elena Polycarpou, Chrysa Stavropoulou, Kalliopi N Manola, Stavroula Gavrili
Objectives Antioxidant response plays a key role in bronchopulmonary dysplasia (BPD) pathogenesis. The glutathione-S-tranferases pi 1 (GSTP1) and cytochrome P450 (CYP) detoxification enzymes protect cells from oxidative damage. The aim of the study was to investigate whether the A(313)G GSTP1 and G(516)T CYP2B6 inactivating polymorphisms could be associated with BPD susceptibility. Study Design To test this hypothesis, we conducted a case-control study enrolled 138 premature neonates ≤32 weeks of gestational age; of the 138, 46 developed BPD and 92 did not develop BPD...
January 12, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28074087/the-genetic-variation-rs6903956-in-the-novel-androgen-dependent-tissue-factor-pathway-inhibitor-regulating-protein-adtrp-gene-is-not-associated-with-levels-of-plasma-coagulation-factors-in-the-singaporean-chinese
#2
Xuling Chang, Hui-Lin Chin, Swee-Chye Quek, Daniel Y T Goh, Rajkumar Dorajoo, Yechiel Friedlander, Chew-Kiat Heng
BACKGROUND: Genome-wide association study (GWAS) has reported that rs6903956 within the first intron of androgen-dependent tissue factor pathway inhibitor (TFPI) regulating protein (ADTRP) gene is associated with coronary artery disease (CAD) risk in the Chinese population. Although ADTRP is believed to be involved in the upregulation of TFPI, the underlying mechanism involved is largely unknown. This study investigated the association of rs6903956 with plasma Factor VII coagulant activity (FVIIc) and fibrinogen levels, which are regulated by TFPI and are independent risk predictors for CAD...
2017: Thrombosis Journal
https://www.readbyqxmd.com/read/28060283/preparation-of-raav9-to-overexpress-or-knockdown-genes-in-mouse-hearts
#3
Jian Ding, Zhi-Qiang Lin, Jian-Ming Jiang, Christine E Seidman, Jonathan G Seidman, William T Pu, Da-Zhi Wang
Controlling the expression or activity of specific genes through the myocardial delivery of genetic materials in murine models permits the investigation of gene functions. Their therapeutic potential in the heart can also be determined. There are limited approaches for in vivo molecular intervention in the mouse heart. Recombinant adeno-associated virus (rAAV)-based genome engineering has been utilized as an essential tool for in vivo cardiac gene manipulation. The specific advantages of this technology include high efficiency, high specificity, low genomic integration rate, minimal immunogenicity, and minimal pathogenicity...
December 17, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28057934/the-driving-force-of-prophages-and-crispr-cas-system-in-the-evolution-of-cronobacter-sakazakii
#4
Haiyan Zeng, Jumei Zhang, Chensi Li, Tengfei Xie, Na Ling, Qingping Wu, Yingwang Ye
Cronobacter sakazakii is an important foodborne pathogens causing rare but life-threatening diseases in neonates and infants. CRISPR-Cas system is a new prokaryotic defense system that provides adaptive immunity against phages, latter play an vital role on the evolution and pathogenicity of host bacteria. In this study, we found that genome sizes of C. sakazakii strains had a significant positive correlation with total genome sizes of prophages. Prophages contributed to 16.57% of the genetic diversity (pan genome) of C...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28040137/prenatal-diagnosis-of-familial-transmission-of-17q12-microduplication-associated-with-no-apparent-phenotypic-abnormality
#5
Chih-Ping Chen, Chung-Hu Fu, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of familial transmission of 17q12 duplication associated with no apparent phenotypic abnormality. CASE REPORT: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Array comparative genomic hybridization of uncultured amniocytes revealed a 1.42-Mb duplication of 17q12 or arr 17q12 (34,822,465-36,243,365) × 3 encompassing 12 Online Mendelian Inheritance in Man (OMIM) genes including LHX1, ACACA, and HNF1B...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28036311/etiological-profile-of-early-neonatal-bacterial-sepsis-by-multiplex-qpcr
#6
Walter P Silva-Junior, Almir S Martins, Paula C N Xavier, Kelly L A Appel, Silvio A Oliveira Junior, Durval B Palhares
INTRODUCTION: Given the major impact in terms of morbidity and mortality that episodes of early neonatal sepsis (ENS) have on both newborns and health systems, this study aimed to identify the etiological profile of early neonatal bacterial sepsis by a multiplex quantitative real-time polymerase chain reaction (qPCR). METHODOLOGY: Blood samples from newborns diagnosed with clinical ENS and hospitalized in neonatal intensive care units (NICUs) were collected and analyzed using the multiplex qPCR method to detect Streptococcus agalactiae, Escherichia coli, Klebsiella pneumoniae, Pseudomonas aeruginosa, Enterobacter sp...
December 30, 2016: Journal of Infection in Developing Countries
https://www.readbyqxmd.com/read/28019132/association-of-the-polymorphism-12109g-a-from-the-ren-gene-as-a-risk-factor-for-preterm-birth
#7
Irám P Rodríguez-Sánchez, Stephania Suárez-Caro, Fernando Rivas-Solís, Iván Delgado-Enciso, María M Sánchez-Chaparro, Mayra A Gómez-Govea, Laura E Martínez-de-Villarreal, Laura L Valdez-Velazquez
INTRODUCTION: Preterm birth is the most important cause of neonatal mortality and morbidity. It is a multifactorial disease with different etiologies, including genetic factors. Genetic variability is represented by single nucleotide polymorphisms (SNPs) in genes of proteins involved in the contractile activity. We determine the association between SNP 12109G> A in REN associated with preterm birth and premature rupture of membrane. MATERIALS AND METHODS: A study of cases ( N=112, 22-36 weeks of gestation; mean: 31, 95% confidence interval 30...
October 2016: Journal of the Renin-angiotensin-aldosterone System: JRAAS
https://www.readbyqxmd.com/read/28018330/porcine-epidemic-diarrhea-virus-shedding-and-antibody-response-in-swine-farms-a-longitudinal-study
#8
Cristina Bertasio, Enrico Giacomini, Massimiliano Lazzaro, Simona Perulli, Alice Papetti, Antonio Lavazza, Davide Lelli, Giovanni Alborali, Maria B Boniotti
The porcine epidemic diarrhea virus (PEDV) causes an acute and highly contagious enteric disease characterized by severe enteritis, vomiting, watery diarrhea, and a high mortality rate in seronegative neonatal piglets. In the last few years, PED had a large economic impact on the swine industries in Asia and the US, and in 2014, the PEDV also re-emerged in Europe. Two main PEDV variants circulate worldwide but only the S INDEL variant, considered a mild strain, is spreading in Europe. To gain insights into the pathogenicity of this variant, its viral load and temporal shedding pattern were evaluated in piglets from infected farms...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28018320/single-molecule-sequencing-pacbio-of-the-staphylococcus-capitis-nrcs-a-clone-reveals-the-basis-of-multidrug-resistance-and-adaptation-to-the-neonatal-intensive-care-unit-environment
#9
Patrícia Martins Simões, Hajar Lemriss, Yann Dumont, Sanâa Lemriss, Jean-Philippe Rasigade, Sophie Assant-Trouillet, Azeddine Ibrahimi, Saâd El Kabbaj, Marine Butin, Frédéric Laurent
The multi-resistant Staphylococcus capitis clone NRCS-A has recently been described as a major pathogen causing nosocomial, late-onset sepsis (LOS) in preterm neonates worldwide. NRCS-A representatives exhibit an atypical antibiotic resistance profile. Here, the complete closed genome (chromosomal and plasmid sequences) of NRCS-A prototype strain CR01 and the draft genomes of three other clinical NRCS-A strains from Australia, Belgium and the United Kingdom are annotated and compared to available non-NRCS-A S...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28012985/effect-of-polymyxin-resistance-pmr-on-biofilm-formation-of-cronobacter-sakazakii
#10
Xuerui Bao, Xiangyin Jia, Lequn Chen, Brian M Peters, Chii-Wann Lin, Dingqiang Chen, Lin Li, Bing Li, Yanyan Li, Zhenbo Xu, Mark E Shirtliff
Cronobacter sakazakii (C.sakazakii) has been identified as a wide-spread conditioned pathogen associated with series of serious illnesses, such as neonatal meningitis, enterocolitis, bacteremia or sepsis. As food safety is concerned, microbial biofilm has been considered to be a potential source of food contamination. The current study aims to investigate the ability of biofilm formation of two C. sakazakii strains (wild type BAA 894 and pmrA mutant). Crystal violet (CV), XTT (2-methoxy-4-nitro-5-sulfophenyl)-5-[(phenylamino carbonyl)-2H-(tetrazolium hydroxide)] assays, and scanning electron microscopy (SEM) are performed on different time points during biofilm formation of C...
December 22, 2016: Microbial Pathogenesis
https://www.readbyqxmd.com/read/27995975/rna-activation-of-haploinsufficient-foxg1-gene-in-murine-neocortex
#11
Cristina Fimiani, Elisa Goina, Qin Su, Guangping Gao, Antonello Mallamaci
More than one hundred distinct gene hemizygosities are specifically linked to epilepsy, mental retardation, autism, schizophrenia and neuro-degeneration. Radical repair of these gene deficits via genome engineering is hardly feasible. The same applies to therapeutic stimulation of the spared allele by artificial transactivators. Small activating RNAs (saRNAs) offer an alternative, appealing approach. As a proof-of-principle, here we tested this approach on the Rett syndrome-linked, haploinsufficient, Foxg1 brain patterning gene...
December 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27989326/pediatric-pain-measurement-assessment-and-evaluation
#12
REVIEW
Renee C B Manworren, Jennifer Stinson
Assessment provides the foundation for diagnosis, selection of treatments, and evaluation of treatment effectiveness for pediatric patients with acute, recurrent, and chronic pain. Extensive research has resulted in the availability of a number of valid, reliable, and recommended tools for assessing children's pain. Yet, evidence suggests children's pain is still not optimally measured or treated. In this article, we provide an overview of pain evaluation for premature neonates to adolescents. The difference between pain assessment and measurement is highlighted; and the key steps to follow are identified...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27988045/multi-spacer-typing-as-an-effective-method-to-distinguish-the-clonal-lineage-of-clostridium-butyricum-strains-isolated-from-stool-samples-during-a-series-of-necrotizing-enterocolitis-cases
#13
S Benamar, N Cassir, V Merhej, P Jardot, C Robert, D Raoult, B La Scola
BACKGROUND: Necrotizing enterocolitis (NEC) is a devastating gastrointestinal disease with high morbidity and mortality that predominantly affects preterm neonates during outbreaks. In a previous study, the present authors identified 15 Clostridium butyricum isolates from stool samples during a series of NEC cases involving four neonatal intensive care units. A clonal lineage of these strains was observed by in-silico multi-locus sequence typing. AIM: To confirm the previous findings by sequencing a larger number of C...
November 14, 2016: Journal of Hospital Infection
https://www.readbyqxmd.com/read/27986832/placental-and-cord-blood-methylation-of-genes-involved-in-energy-homeostasis-association-with-fetal-growth-and-neonatal-body-composition
#14
Marta Díaz, Cristina García, Giorgia Sebastiani, Francis de Zegher, Abel López-Bermejo, Lourdes Ibáñez
Low weight at birth associates with subsequent susceptibility to diabetes. Epigenetic modulation is among the mechanisms potentially mediating this association. We performed a genome-wide DNA methylation analysis in placentas from term infants born appropriate-for-gestational-age (AGA) or small-for-gestational-age (SGA), to identify new genes related to fetal growth and neonatal body composition. Candidate genes were validated by bisulfite pyrosequencing (30 AGA, 21 SGA) and also analyzed in cord blood. Gene expression analyses were performed by RT-PCR...
December 16, 2016: Diabetes
https://www.readbyqxmd.com/read/27939152/whole-genome-characterization-of-a-peruvian-alpaca-rotavirus-isolate-expressing-a-novel-vp4-genotype
#15
Miguel Rojas, Jorge Luiz S Gonçalves, Helver G Dias, Alberto Manchego, Danilo Pezo, Norma Santos
The SA44 isolate of Rotavirus A (RVA) was identified from a neonatal Peruvian alpaca presenting with diarrhea, and the full-length genome sequence of the isolate (designated RVA/Alpaca-tc/PER/SA44/2014/G3P[40]) was determined. Phylogenetic analyses showed that the isolate possessed the genotype constellation G3-P[40]-I8-R3-C3-M3-A9-N3-T3-E3-H6, which differs considerably from those of RVA strains isolated from other species of the order Artiodactyla. Overall, the genetic constellation of the SA44 strain was quite similar to those of RVA strains isolated from a bat in Asia (MSLH14 and MYAS33)...
November 30, 2016: Veterinary Microbiology
https://www.readbyqxmd.com/read/27933755/maternal-pre-pregnancy-bmi-downregulates-neonatal-cord-blood-lep-methylation
#16
R Kadakia, Y Zheng, Z Zhang, W Zhang, L Hou, J L Josefson
BACKGROUND: Neonatal adiposity has many determinants and may be a risk factor for future obesity. Epigenetic regulation of metabolically important genes is a potential contributor. OBJECTIVES: The objective of the study is to determine whether methylation changes in the LEP gene in cord blood DNA are impacted by the maternal environment or affect neonatal adiposity measures. METHODS: A cross-sectional study of 114 full-term neonates born to healthy mothers with normal glucose tolerance was performed...
December 8, 2016: Pediatric Obesity
https://www.readbyqxmd.com/read/27922636/dna-methylation-and-substance-use-risk-a-prospective-genome-wide-study-spanning-gestation-to-adolescence
#17
C A M Cecil, E Walton, R G Smith, E Viding, E J McCrory, C L Relton, M Suderman, J-B Pingault, W McArdle, T R Gaunt, J Mill, E D Barker
Epigenetic processes have been implicated in addiction; yet, it remains unclear whether these represent a risk factor and/or a consequence of substance use. Here, we believe we conducted the first genome-wide, longitudinal study to investigate whether DNA methylation patterns in early life prospectively associate with substance use in adolescence. The sample comprised of 244 youth (51% female) from the Avon Longitudinal Study of Parents and Children (ALSPAC), with repeated assessments of DNA methylation (Illumina 450k array; cord blood at birth, whole blood at age 7) and substance use (tobacco, alcohol and cannabis use; age 14-18)...
December 6, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27913251/unmapped-reads-from-cattle-rnaseq-data-a-source-for-missing-and-misassembled-sequences-in-the-reference-assemblies-and-for-detection-of-pathogens-in-the-host
#18
Tahir Usman, Frieder Hadlich, Wiebke Demasius, Rosemarie Weikard, Christa Kühn
Usually, reads from transcriptome sequencing data unmapped to the target species' reference genome are disregarded. A recent RNAseq project on the new fatal disease Bovine Neonatal Pancytopenia had indicated an unexplained immune response signature to a double-stranded RNA virus. To unravel its background, contigs were de novo assembled from unmapped RNAseq reads and aligned against the bovine genome assemblies and multispecies NCBI databases. Lack of genuine virus sequence contigs rejected the hypothesis of a live virus being causal for the unexplained immune response...
January 2017: Genomics
https://www.readbyqxmd.com/read/27910939/real-time-pcr-based-serotyping-of-streptococcus-agalactiae
#19
Kathleen M Breeding, Bhavana Ragipani, Kun-Uk David Lee, Martin Malik, Tara M Randis, Adam J Ratner
Group B Streptococcus (GBS) is an encapsulated, gram-positive pathogen that is an important cause of neonatal invasive infections, including sepsis and meningitis. There are ten known GBS serotypes based on distinct capsule compositions (Ia, Ib, II-IX), and current candidate capsular polysaccharide conjugate vaccines target only a subset of these. Serotyping of GBS isolates is important for understanding local epidemiology and for monitoring for serotype replacement or capsular switching. However, serotyping generally requires either latex agglutination, multiplex PCR with analysis of band sizes, or analysis of whole genome sequences-all techniques that are either expensive or not widely available...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27910039/silencing-genes-in-the-heart
#20
Henry Fechner, Roland Vetter, Jens Kurreck, Wolfgang Poller
Silencing of cardiac genes by RNA interference (RNAi) has developed into a powerful new method to treat cardiac diseases. Small interfering (si)RNAs are the inducers of RNAi, but cultured primary cardiomyocytes and heart are highly resistant to siRNA transfection. This can be overcome by delivery of small hairpin (sh)RNAs or artificial microRNA (amiRNAs) by cardiotropic adeno-associated virus (AAV) vectors. Here we describe as example of the silencing of a cardiac gene, the generation and cloning of shRNA, and amiRNAs directed against the cardiac protein phospholamban...
2017: Methods in Molecular Biology
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