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Neonatal genomics

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https://www.readbyqxmd.com/read/28334351/effects-of-antenatal-maternal-depressive-symptoms-and-socio-economic-status-on-neonatal-brain-development-are-modulated-by-genetic-risk
#1
Anqi Qiu, Mojun Shen, Claudia Buss, Yap-Seng Chong, Kenneth Kwek, Seang-Mei Saw, Peter D Gluckman, Pathik D Wadhwa, Sonja Entringer, Martin Styner, Neerja Karnani, Christine M Heim, Kieran J O'Donnell, Joanna D Holbrook, Marielle V Fortier, Michael J Meaney
This study included 168 and 85 mother-infant dyads from Asian and United States of America cohorts to examine whether a genomic profile risk score for major depressive disorder (GPRSMDD) moderates the association between antenatal maternal depressive symptoms (or socio-economic status, SES) and fetal neurodevelopment, and to identify candidate biological processes underlying such association. Both cohorts showed a significant interaction between antenatal maternal depressive symptoms and infant GPRSMDD on the right amygdala volume...
March 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28333320/cross-resistance-to-lincosamides-streptogramins-a-and-pleuromutilins-in-streptococcus-agalactiae-isolates-from-the-usa
#2
Paulina A Hawkins, Caitlin S Law, Benjamin J Metcalf, Sopio Chochua, Delois M Jackson, Lars F Westblade, Robert Jerris, Bernard W Beall, Lesley McGee
Background: Streptococcus agalactiae (Group B Streptococcus, GBS) is a leading cause of meningitis, sepsis and pneumonia in neonates in the United States. GBS also causes invasive disease in older infants, pregnant women, children and young adults with underlying medical conditions, and older adults. Resistance to lincosamides in the absence of erythromycin resistance is rare in GBS, but has been previously reported in clinical isolates, both on its own or in combination with resistance to streptogramins A and pleuromutilins (L/LSA/LSAP phenotypes)...
March 13, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28333300/comparison-of-global-gene-expression-profiles-of-microdissected-human-foetal-leydig-cells-with-their-normal-and-hyperplastic-adult-equivalents
#3
Grete Lottrup, Kirstine Belling, Henrik Leffers, John E Nielsen, Marlene D Dalgaard, Anders Juul, Niels E Skakkebæk, Søren Brunak, Ewa Rajpert-De Meyts
STUDY QUESTION: Do human adult Leydig cells (ALCs) within hyperplastic micronodules display characteristics of foetal LCs (FLCs)? SUMMARY ANSWER: The gene expression profiles of FLCs and all ALC subgroups were clearly different, but there were no significant differences in expressed genes between the normally clustered and hyperplastic ALCs. WHAT IS KNOWN ALREADY: LCs are the primary androgen producing cells in males throughout development and appear in chronologically distinct populations; FLCs, neonatal LCs and ALCs...
March 17, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28332498/a-genome-wide-screen-identifies-yap-wbp2-interplay-conferring-growth-advantage-on-human-epidermal-stem-cells
#4
Gernot Walko, Samuel Woodhouse, Angela Oliveira Pisco, Emanuel Rognoni, Kifayathullah Liakath-Ali, Beate M Lichtenberger, Ajay Mishra, Stephanie B Telerman, Priyalakshmi Viswanathan, Meike Logtenberg, Lisa M Renz, Giacomo Donati, Sven R Quist, Fiona M Watt
Individual human epidermal cells differ in their self-renewal ability. To uncover the molecular basis for this heterogeneity, we performed genome-wide pooled RNA interference screens and identified genes conferring a clonal growth advantage on normal and neoplastic (cutaneous squamous cell carcinoma, cSCC) human epidermal cells. The Hippo effector YAP was amongst the top positive growth regulators in both screens. By integrating the Hippo network interactome with our data sets, we identify WW-binding protein 2 (WBP2) as an important co-factor of YAP that enhances YAP/TEAD-mediated gene transcription...
March 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28330080/transgenic-rice-plants-expressing-synthetic-cry2ax1-gene-exhibits-resistance-to-rice-leaffolder-cnaphalocrosis-medinalis
#5
R Manikandan, N Balakrishnan, D Sudhakar, V Udayasuriyan
Bacillus thuringiensis is a major source of insecticidal genes imparting insect resistance in transgenic plants. Level of expression of transgenes in transgenic plants is important to achieve desirable level of resistance against target insects. In order to achieve desirable level of expression, rice chloroplast transit peptide sequence was fused with synthetic cry2AX1 gene to target its protein in chloroplasts. Sixteen PCR positive lines of rice were generated by Agrobacterium mediated transformation using immature embryos...
June 2016: 3 Biotech
https://www.readbyqxmd.com/read/28322586/the-neonatal-methylome-as-a-gatekeeper-in-the-trajectory-to-childhood-asthma
#6
Avery DeVries, Donata Vercelli
Asthma is a heterogeneous group of conditions that typically begin in early life and result in recurrent, reversible bronchial obstruction. The role played by epigenetic mechanisms in the pathogenesis of childhood asthma is understood only in part. Here we discuss asthma epigenetics within a developmental perspective based on our recent demonstration that the epigenetic trajectory to childhood asthma begins at birth. We next discuss how this trajectory may be affected by prenatal environmental exposures. Finally, we examine in vitro studies that model the impact of asthma-associated exposures on the epigenome...
March 21, 2017: Epigenomics
https://www.readbyqxmd.com/read/28320034/variations-in-infant-cyp2b6-genotype-associated-with-the-need-for-pharmacological-treatment-for-neonatal-abstinence-syndrome-in-infants-of-methadone-maintained-opioid-dependent-mothers
#7
Helen Mactier, Poppy McLaughlin, Cheryl Gillis, Michael David Osselton
Background Neonatal abstinence syndrome (NAS) in infants of methadone-maintained opioid-dependent (MMOD) mothers cannot be predicted in individual cases. We investigated whether variation in infant genotype is associated with severity of NAS. Methods This is a pilot observational cohort study of 21 MMOD mothers and their newborns. Infant buccal swabs were obtained soon after delivery, together with a maternal blood sample for the determination of maternal plasma methadone concentration. Genomic variation in five opioid-related genes (ABCB1, COMT, CYP2B6, CYP2D6, and OPRM1) was ascertained from infant buccal swabs and related to need for pharmacological treatment of NAS...
March 20, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28317342/genetic-determinants-of-adiponectin-regulation-revealed-by-pregnancy
#8
Marie-France Hivert, Denise M Scholtens, Catherine Allard, Michael Nodzenski, Luigi Bouchard, Diane Brisson, Lynn P Lowe, Ian McDowell, Tim Reddy, Zari Dastani, J Brent Richards, M Geoffrey Hayes, William L Lowe
OBJECTIVE: This study investigated genetic determinants of adiponectin during pregnancy to reveal novel biology of adipocyte regulation. METHODS: A genome-wide association study was conducted in 1,322 pregnant women from the Hyperglycemia and Adverse Pregnancy Outcome Study with adiponectin measured at ∼28 weeks of gestation. Variants reaching P < 5×10(-5) for de novo genotyping in two replication cohorts (Genetics of Glycemic regulation in Gestation and Growth N = 522; ECOGENE-21 N = 174) were selected...
March 20, 2017: Obesity
https://www.readbyqxmd.com/read/28290770/in-vivo-characterization-of-cyp2d6-12-29-and-84-using-dextromethorphan-as-a-probe-drug-a-case-report
#9
Andrea Gaedigk, Greyson P Twist, Emily G Farrow, Jennifer A Lowry, Sarah E Soden, Neil A Miller
CYP2D6*84 was first described in a Black South African subject, however, its function remains unknown. Astrolabe, a probabilistic scoring tool developed in our laboratory to call genotypes from whole genome sequence, identified CYP2D6*84 in a trio. The father presented with intermediate metabolism when challenged with the CYP2D6 probe drug dextromethorphan (DM/dextrorphan [DX] = 0.0839). Since his second allele, CYP2D6*12, is nonfunctional, the observed activity is derived by CYP2D6*84. This finding suggests that the allele's hallmark P267H causes decreased activity toward DM and that this allele should receive a value of 0...
March 14, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#10
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28284624/attenuation-of-an-original-us-porcine-epidemic-diarrhea-virus-strain-pc22a-via-serial-cell-culture-passage
#11
Chun-Ming Lin, Yixuan Hou, Douglas G Marthaler, Xiang Gao, Xinsheng Liu, Lanlan Zheng, Linda J Saif, Qiuhong Wang
Although porcine epidemic diarrhea (PED) has caused huge economic losses in the pork industry worldwide, an effective live, attenuated vaccine is lacking. In this study, an original US, highly virulent PED virus (PEDV) strain PC22A was serially passaged in Vero CCL81 and Vero BI cells. The virus growth kinetics in cell culture, virulence in neonatal pigs and the whole genomic sequences of selected passages were examined. Increased virus titers and sizes of syncytia were observed at the 65th passage level (P65) and P120, respectively...
March 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/28283684/pharmacogenetics-in-type-2-diabetes-precision-medicine-or-discovery-tool
#12
REVIEW
Jose C Florez
In recent years, technological and analytical advances have led to an explosion in the discovery of genetic loci associated with type 2 diabetes. However, their ability to improve prediction of disease outcomes beyond standard clinical risk factors has been limited. On the other hand, genetic effects on drug response may be stronger than those commonly seen for disease incidence. Pharmacogenetic findings may aid in identifying new drug targets, elucidate pathophysiology, unravel disease heterogeneity, help prioritise specific genes in regions of genetic association, and contribute to personalised or precision treatment...
March 10, 2017: Diabetologia
https://www.readbyqxmd.com/read/28283553/genome-wide-association-study-of-sepsis-in-extremely-premature-infants
#13
Lakshmi Srinivasan, Grier Page, Haresh Kirpalani, Jeffrey C Murray, Abhik Das, Rosemary D Higgins, Waldemar A Carlo, Edward F Bell, Ronald N Goldberg, Kurt Schibler, Beena G Sood, David K Stevenson, Barbara J Stoll, Krisa P Van Meurs, Karen J Johnson, Joshua Levy, Scott A McDonald, Kristin M Zaterka-Baxter, Kathleen A Kennedy, Pablo J Sánchez, Shahnaz Duara, Michele C Walsh, Seetha Shankaran, James L Wynn, C Michael Cotten
OBJECTIVE: To identify genetic variants associated with sepsis (early-onset and late-onset) using a genome-wide association (GWA) analysis in a cohort of extremely premature infants. STUDY DESIGN: Previously generated GWA data from the Neonatal Research Network's anonymised genomic database biorepository of extremely premature infants were used for this study. Sepsis was defined as culture-positive early-onset or late-onset sepsis or culture-proven meningitis. Genomic and whole-genome-amplified DNA was genotyped for 1...
March 10, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28280491/comparative-analysis-of-phylogenetic-assignment-of-human-and-avian-expec-and-fecal-commensal-escherichia-coli-using-the-previous-and-revised-clermont-phylogenetic-typing-methods-and-its-impact-on-avian-pathogenic-escherichia-coli-apec-classification
#14
Catherine M Logue, Yvonne Wannemuehler, Bryon A Nicholson, Curt Doetkott, Nicolle L Barbieri, Lisa K Nolan
The Clermont scheme has been used for subtyping of Escherichia coli since it was initially described in early 2000. Since then, researchers have used the scheme to type and sub-type commensal E. coli and pathogenic E. coli, such as extraintestinal pathogenic E. coli (ExPEC), and compare their phylogenetic assignment by pathogenicity, serogroup, distribution among ExPEC of different host species and complement of virulence and resistance traits. Here, we compare assignments of human and avian ExPEC and commensal E...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28280035/draft-genome-sequence-of-a-multidrug-resistant-nosocomial-serratia-marcescens-strain-that-persisted-in-a-hospital-in-kemerovo-russian-federation
#15
Daniil Azarov, Artemiy Goncharov, Alena Karaseva, Tatyana Brodina, Ekaterina Lebedeva, Irina Taranenko, Anna Feting, Michael Bakaev, Elena Brusina, Lyudmila Zueva
Serratia marcescens is a frequent cause of health care-associated infections and has led to multiple outbreaks. Here, we report the draft genome of a multidrug-resistant S. marcescens strain 189 which was isolated in 2012 as a predominant clone in a neonatal hospital in Kemerovo.
March 9, 2017: Genome Announcements
https://www.readbyqxmd.com/read/28277305/current-genetic-testing-tools-in-neonatal-medicine
#16
REVIEW
Seema R Lalani
With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers must have a sufficient knowledge base to both recognize and evaluate genetic diseases in the neonatal period. Genetic assessment has become an essential aspect of medicine, and professionals need to know when genetic evaluation is indispensable. Much progress has been made in recent years in utilizing massively parallel sequencing for rapid diagnosis of genetic conditions in neonates...
September 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28276526/characterization-of-chinese-porcine-epidemic-diarrhea-virus-with-novel-insertions-and-deletions-in-genome
#17
Baochao Fan, Dian Jiao, Xiaona Zhao, Fengjiao Pang, Qi Xiao, Zhengyu Yu, Aihua Mao, Rongli Guo, Wanzhe Yuan, Pandeng Zhao, Kongwang He, Bin Li
Outbreaks of porcine epidemic diarrhoea virus (PEDV) have caused great economic losses to the global pig industry. PEDV strains with variants in the spike (S) gene have been reported in several countries. To better understand the molecular epidemiology and genetic diversity of PEDV field isolates, in this study, we characterised the complete genome sequence of a novel PEDV variant JSCZ1601 from a outbreak in China in 2016. The PEDV isolate was 28,033 nucleotides (nt) in length without the polyadenylated sequences...
March 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28273858/use-of-a-pan-genomic-dna-microarray-in-determination-of-the-phylogenetic-relatedness-among-cronobacter-spp-and-its-use-as-a-data-mining-tool-to-understand-cronobacter-biology
#18
REVIEW
Ben D Tall, Jayanthi Gangiredla, Christopher J Grim, Isha R Patel, Scott A Jackson, Mark K Mammel, Mahendra H Kothary, Venugopal Sathyamoorthy, Laurenda Carter, Séamus Fanning, Carol Iversen, Franco Pagotto, Roger Stephan, Angelika Lehner, Jeffery Farber, Qiong Q Yan, Gopal R Gopinath
Cronobacter (previously known as Enterobacter sakazakii) is a genus of Gram-negative, facultatively anaerobic, oxidase-negative, catalase-positive, rod-shaped bacteria of the family Enterobacteriaceae. These organisms cause a variety of illnesses such as meningitis, necrotizing enterocolitis, and septicemia in neonates and infants, and urinary tract, wound, abscesses or surgical site infections, septicemia, and pneumonia in adults. The total gene content of 379 strains of Cronobacter spp. and taxonomically-related isolates was determined using a recently reported DNA microarray...
March 4, 2017: Microarrays
https://www.readbyqxmd.com/read/28267624/a-taqman-based-qrt-pcr-assay-for-senecavirus-a-detection-in-tissue-samples-of-neonatal-piglets
#19
Alais Maria Dall Agnol, Rodrigo Alejandro Arellano Otonel, Raquel Arruda Leme, Amauri Alcindo Alfieri, Alice Fernandes Alfieri
This study describes a sensitive (1.3 × 10(1) genomic copies/μL) and specific TaqMan-based qRT-PCR assay able to detect and quantify SVA RNA in porcine biological samples. The technique represents an efficient tool for the virus diagnosis and assessment of SVA load in tissues of infected animals and for epidemiological studies.
March 4, 2017: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/28259955/gene-expression-profiles-in-preterm-infants-on-continuous-long%C3%A2-term-oxygen-therapy-suggest-reduced-oxidative-stress%C3%A2-dependent-signaling-during-hypoxia
#20
Betty Kalikstad, Hanna Göransson Kultima, Terese Kristoffersen Andersstuen, Arne Klungland, Anders Isaksson
Preterm infants are susceptible to neonatal inflammatory/infective diseases requiring drug therapy. The present study hypothesized that mRNA expression in the blood may be modulated by signaling pathways during treatment. The current study aimed to explore changes in global gene expression in the blood from preterm infants with the objective of identifying patterns or pathways of potential relevance to drug therapy. The infants involved were selected based on maternal criteria indicating increased risk for therapeutic intervention...
February 8, 2017: Molecular Medicine Reports
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