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Neonatal genomics

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https://www.readbyqxmd.com/read/28231269/a-mouse-model-of-paralytic-myelitis-caused-by-enterovirus-d68
#1
Alison M Hixon, Guixia Yu, J Smith Leser, Shigeo Yagi, Penny Clarke, Charles Y Chiu, Kenneth L Tyler
In 2014, the United States experienced an epidemic of acute flaccid myelitis (AFM) cases in children coincident with a nationwide outbreak of enterovirus D68 (EV-D68) respiratory disease. Up to half of the 2014 AFM patients had EV-D68 RNA detected by RT-PCR in their respiratory secretions, although EV-D68 was only detected in cerebrospinal fluid (CSF) from one 2014 AFM patient. Given previously described molecular and epidemiologic associations between EV-D68 and AFM, we sought to develop an animal model by screening seven EV-D68 strains for the ability to induce neurological disease in neonatal mice...
February 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28223977/staphylococcal-aureus-enterotoxin-c-and-enterotoxin-like-l-associated-with-post-partum-mastitis
#2
Kristina T Franck, Heidi Gumpert, Bente Olesen, Anders R Larsen, Andreas Petersen, Jette Bangsborg, Per Albertsen, Henrik Westh, Mette D Bartels
Denmark is a low prevalence country with regard to methicillin resistant Staphylococcus aureus (MRSA). In 2008 and 2014, two neonatal wards in the Copenhagen area experienced outbreaks with a typical community acquired MRSA belonging to the same spa type and sequence type (t015:ST45) and both were PVL and ACME negative. In outbreak 1, the isolates harbored SCCmec IVa and in outbreak 2 SCCmec V. The clinical presentation differed between the two outbreaks, as none of five MRSA positive mothers in outbreak 1 had mastitis vs...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28222320/antioxidant-polymorphisms-do-not-influence-the-risk-of-epilepsy-or-its-drug-resistance-after-neonatal-hypoxic-ischemic-brain-injury
#3
Katarina Esih, Katja Goričar, Vita Dolžan, Zvonka Rener-Primec
PURPOSE: The aim of this study was to investigate if common functional antioxidant polymorphisms are associated with epilepsy after neonatal hypoxic-ischemic encephalopathy (HIE). The antioxidant enzymes manganese superoxide dismutase (SOD2), glutathione peroxidase 1 (GPX1) and catalase (CAT) represent the primary defence mechanism against reactive oxygen species (ROS). Evidence suggests that genetic variants in antioxidant enzymes could influence susceptibility to epilepsy, but to date the relationship between them remains unclear...
February 3, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28215819/use-of-human-methylation-arrays-for-epigenome-research-in-the-common-marmoset-callithrix-jacchus
#4
Junko Hayashi-Ueda, Yui Murata, Miki Bundo, Arata Oh-Nishi, Hidetoshi Kassai, Tempei Ikegame, Zhilei Zhao, Seiichiro Jinde, Atsu Aiba, Tetsuya Suhara, Kiyoto Kasai, Tadafumi Kato, Kazuya Iwamoto
We examined the usefulness of commercially available DNA methylation arrays designed for the human genome (Illumina HumanMethylation450 and MethylationEPIC) for high-throughput epigenome analysis of the common marmoset, a nonhuman primate suitable for research on neuropsychiatric disorders. From among the probes on the methylation arrays, we selected those available for the common marmoset. DNA methylation data were obtained from genomic DNA extracted from the frontal cortex and blood samples of adult common marmosets as well as the frontal cortex of neonatal marmosets...
February 16, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/28196600/genome-editing-in-hpscs-reveals-gata6-haploinsufficiency-and-a-genetic-interaction-with-gata4-in-human-pancreatic-development
#5
Zhong-Dong Shi, Kihyun Lee, Dapeng Yang, Sadaf Amin, Nipun Verma, Qing V Li, Zengrong Zhu, Chew-Li Soh, Ritu Kumar, Todd Evans, Shuibing Chen, Danwei Huangfu
Human disease phenotypes associated with haploinsufficient gene requirements are often not recapitulated well in animal models. Here, we have investigated the association between human GATA6 haploinsufficiency and a wide range of clinical phenotypes that include neonatal and adult-onset diabetes using CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9-mediated genome editing coupled with human pluripotent stem cell (hPSC) directed differentiation. We found that loss of one GATA6 allele specifically affects the differentiation of human pancreatic progenitors from the early PDX1+ stage to the more mature PDX1+NKX6...
February 8, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28195550/novel-germline-mutation-leu512met-in-the-thyrotropin-receptor-gene-tshr-leading-to-sporadic-non-autoimmune-hyperthyroidism
#6
Stephanie A Roberts, Jennifer E Moon, Andrew Dauber, Jessica R Smith
BACKGROUND: Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a wide phenotype from severe neonatal to mild subclinical hyperthyroidism. We describe a 6-month-old boy with a de novo mutation in the TSHR gene who presented with accelerated growth, enlarging head circumference, tremor and thyrotoxicosis...
February 14, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28186605/-analysis-of-mat1a-gene-mutations-in-a-child-affected-with-simple-hypermethioninemia
#7
Yun Sun, Dingyuan Ma, Yanyun Wang, Bin Yang, Tao Jiang
OBJECTIVE: To detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening. METHODS: Clinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion Ampliseq(TM) Inherited Disease Panel. Detected mutations were verified by Sanger sequencing. RESULTS: The child showed no clinical features except evaluated methionine...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28179532/a-murine-herpesvirus-closely-related-to-ubiquitous-human-herpesviruses-causes-t-cell-depletion
#8
Swapneel J Patel, Guoyan Zhao, Vinay R Penna, Eugene Park, Elvin J Lauron, Ian B Harvey, Wandy L Beatty, Beatrice Plougastel-Douglas, Jennifer Poursine-Laurent, Daved H Fremont, David Wang, Wayne M Yokoyama
Mouse models of human herpesvirus infections The human roseoloviruses HHV6A, HHV6B, and HHV7 comprise the Roseolovirus genus of the human Betaherpesvirinae subfamily. Infections with these viruses have been implicated in many diseases; however, it has been challenging to establish infections with Roseoloviruses as direct drivers of pathology because they are nearly ubiquitous and display species-specific tropism. Furthermore, controlled study of infection has been hampered by the lack of experimental models, and until now, a mouse roseolovirus has not been identified...
February 8, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28177804/entry-infection-replication-and-egress-of-human-polyomaviruses-an-update
#9
Soumen Bhattacharjee, Sutanuka Chattaraj
Polyomaviruses (PyVs), belonging to the family Polyomaviridae, are a group of small, nonenveloped, double-stranded, circular DNA viruses widely distributed in the vertebrates. PyVs cause no apparent disease in adult laboratory mice but cause a wide variety of tumors when artificially inoculated into neonates or semipermissive animals. A few human PyVs, such as BK, JC, and Merkel cell PyVs, have been unequivocally linked to pathogenesis under conditions of immunosuppression. Infection is thought to occur early in life and persists for the lifespan of the host...
October 29, 2016: Canadian Journal of Microbiology
https://www.readbyqxmd.com/read/28151827/ethics-of-research-for-patients-in-pain
#10
David B Waisel
PURPOSE OF REVIEW: This review describes advances in rising and continuing ethical issues in research in patients in pain. Although some of the issues focus directly on pain research, such as research in neonatal pain management, others focus on widespread ethical issues that are relevant to pain research, such as scientific misconduct, deception, placebo use and genomics. RECENT FINDINGS: Scientific misconduct is more widespread than realized and requires greater awareness of the markers of misconduct like irreproducibility...
February 1, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28150890/further-assessment-of-exome-wide-uvr-footprints-in-melanoma-and-their-possible-relevance
#11
Pamela Mukhopadhyay, James Roberts, Graeme J Walker
C > T substitutions at dipyrimidine sites dominate the melanoma genome. We recently analyzed the exomes of spontaneous and neonatal UVR-induced murine melanomas, noting a dramatic change in the genomic footprint at C > T substitutions in the latter. Here we re-analyzed published exome-wide footprints in human melanomas stratified in terms of likely previous sun exposure. Acral and mucosal melanomas were heterogeneous in terms of base substitution types, but most C > Ts occurred in the context of 3'G, probably resulting from spontaneous deamination of the cytosine...
February 2, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28148530/usp40-gene-knockdown-disrupts-glomerular-permeability-in-zebrafish
#12
Hisashi Takagi, Yukino Nishibori, Kan Katayama, Tomohisa Katada, Shohei Takahashi, Zentaro Kiuchi, Shin-Ichiro Takahashi, Hiroyasu Kamei, Hayato Kawakami, Yoshihiro Akimoto, Akihiko Kudo, Katsuhiko Asanuma, Hiromu Takematsu, Kunimasa Yan
Unbiased transcriptome profiling and functional genomics approaches have identified ubiquitin specific protease 40 (USP40) as a highly specific glomerular transcript. This gene product remains uncharacterized, and its biological function is completely unknown. Here, we showed that mouse and rat glomeruli exhibit specific expression of the USP40 protein, which migrated at 150 kDa and was exclusively localized in the podocyte cytoplasm of the adult kidney. Double-labeling immunofluorescence staining and confocal microscopy analysis of fetal and neonate kidney samples revealed that USP40 was also expressed in the vasculature, including in glomerular endothelial cells at the premature stage...
February 1, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28137478/gender-balance-in-patients-with-systemic-lupus-erythematosus
#13
REVIEW
Audrey A Margery-Muir, Christine Bundell, Delia Nelson, David M Groth, John D Wetherall
Factors are reviewed that contribute to the contemporary view of a disproportionate prevalence and incidence of SLE in females. Recent studies on the epidemiology of SLE report that global incidences and prevalences of SLE for Caucasian and Black populations are of the order of 5.5 and 13.1 per year and 81 and 212 per 100,000 persons respectively. Both parameters displayed age dependent variation over a 90-year lifespan. The female to male (F:M) incidence of SLE varied with age, being approximately 1 during the first decade of life, followed by a sharp increase to 9 during the 4th decade, thence declining in subsequent decades before an increase during the 7th or 8th decade...
January 27, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28135125/effect-of-age-at-exposure-on-the-incidence-of-lung-and-mammary-cancer-after-thoracic-x-ray-irradiation-in-wistar-rats
#14
Yutaka Yamada, Ken-Ichi Iwata, Benjamin J Blyth, Kazutaka Doi, Takamitsu Morioka, Kazuhiro Daino, Mayumi Nishimura, Shizuko Kakinuma, Yoshiya Shimada
Epidemiology studies have shown that children are at greater overall risk of radiation-induced cancer, but the modifying effect of age at exposure in different tissues is heterogeneous. Early epidemiology findings of increased lung cancer risk with increasing age at the time of exposure have been dismissed, with suggestions that the trend is an artefact from a failure to adequately correct for the effects of tobacco smoking. Yet, differing models used in subsequent analyses have shown that the increased susceptibility with age, counter to the overall solid tumor trend, can either be confirmed or discounted depending on the model parameters used...
January 30, 2017: Radiation Research
https://www.readbyqxmd.com/read/28126729/putting-the-pieces-together-clinically-relevant-genetic-and-genomic-resources-for-hospitalists-and-neonatologists
#15
Rebecca Miller, Alina Khromykh, Holly Babcock, Callie Jenevein, Benjamin D Solomon
Genetic conditions are individually rare but are common in aggregate, and they often present in the neonatal and early pediatric periods. These conditions are often severe, can be difficult to diagnose and manage, and may heavily affect patients, families, health care systems, and society. Because of recent technological advances, the availability and uptake of genetic and genomic testing are increasing rapidly. However, there is a dearth of trained geneticists and genetic counselors to help guide and explain these conditions and relevant tests...
January 26, 2017: Hospital Pediatrics
https://www.readbyqxmd.com/read/28126051/loop-mediated-isothermal-amplification-lamp-assay-for-rapid-detection-of-streptococcus-agalactiae-group-b-streptococcus-gbs-in-vaginal-swabs-a-proof-of-concept-study
#16
James Patrick McKenna, Ciara Cox, Derek John Fairley, Rachael Burke, Michael D Shields, Alison Watt, Peter Valentine Coyle
PURPOSE: Neonatal infection with Streptococcus agalactiae (Group B streptococcus - GBS) is a life threatening condition which is preventable if colonised mothers are identified and given antibiotic prophylaxis during labour. Conventional culture is time consuming and unreliable, and many available non-culture diagnostics are too complex to implement routinely at point of care. Loop-mediated isothermal amplification (LAMP) is a method which enables the rapid and specific detection of target nucleic acid sequences in clinical material without requirements for extensive sample preparation...
January 24, 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28118540/cloning-stability-and-modification-of-mycoplasma-hominis-genome-in-yeast
#17
Fabien Rideau, Chloé Le Roy, Elodie C T Descamps, Hélène Renaudin, Carole Lartigue, Cécile Bébéar
Mycoplasma hominis is a minimal human pathogen that is responsible for genital and neonatal infections. Despite many attempts, there is no efficient genetic tool to manipulate this bacterium, limiting most investigations of its pathogenicity and its uncommon energy metabolism that relies on arginine. The recent cloning and subsequent engineering of other mycoplasma genomes in yeast opens new possibilities for studies of the genomes of genetically intractable organisms. Here, we report the successful one-step cloning of the M...
February 7, 2017: ACS Synthetic Biology
https://www.readbyqxmd.com/read/28112736/maturation-of-the-infant-microbiome-community-structure-and-function-across-multiple-body-sites-and-in-relation-to-mode-of-delivery
#18
Derrick M Chu, Jun Ma, Amanda L Prince, Kathleen M Antony, Maxim D Seferovic, Kjersti M Aagaard
Human microbial communities are characterized by their taxonomic, metagenomic and metabolic diversity, which varies by distinct body sites and influences human physiology. However, when and how microbial communities within each body niche acquire unique taxonomical and functional signatures in early life remains underexplored. We thus sought to determine the taxonomic composition and potential metabolic function of the neonatal and early infant microbiota across multiple body sites and assess the effect of the mode of delivery and its potential confounders or modifiers...
January 23, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28107386/regulation-of-pi-2b-pilus-expression-in-hypervirulent-streptococcus-agalactiae-st-17-bm110
#19
Bruno Périchon, Noémi Szili, Laurence du Merle, Isabelle Rosinski-Chupin, Myriam Gominet, Samuel Bellais, Claire Poyart, Patrick Trieu-Cuot, Shaynoor Dramsi
The widely spread Streptococcus agalactiae (also known as Group B Streptococcus, GBS) "hypervirulent" ST17 clone is strongly associated with neonatal meningitis. The PI-2b locus is mainly found in ST17 strains but is also present in a few non ST17 human isolates such as the ST-7 prototype strain A909. Here, we analysed the expression of the PI-2b pilus in the ST17 strain BM110 as compared to the non ST17 A909. Comparative genome analyses revealed the presence of a 43-base pair (bp) hairpin-like structure in the upstream region of PI-2b operon in all 26 ST17 genomes, which was absent in the 8 non-ST17 strains carrying the PI-2b locus...
2017: PloS One
https://www.readbyqxmd.com/read/28081574/gstp1-and-cyp2b6-genetic-polymorphisms-and-the-risk-of-bronchopulmonary-dysplasia-in-preterm-neonates
#20
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
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