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Neonatal genomics

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https://www.readbyqxmd.com/read/29224166/dna-methylation-analysis-from-blood-spots-increasing-yield-and-quality-for-genome-wide-and-locus-specific-methylation-analysis
#1
Akram Ghantous, Hector Hernandez-Vargas, Zdenko Herceg
Blood represents an easily accessible human tissue for numerous research and clinical applications, including surrogate roles for biomarkers of other tissues. Dried blood spots (DBS) are space- and cost-efficient storage forms of blood while stably retaining many of its chemical constituents. Consequently, neonatal DBS are routinely collected in many countries, and their biobanks represent gold mines for research. However, the utility of DBS is restricted by the limited amount and quality of extractable biomolecules (including DNA), especially for genome-wide profiling...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29221571/micrornas-milk-s-epigenetic-regulators
#2
REVIEW
Bodo C Melnik, Gerd Schmitz
Our perception of milk has changed from a "simple food" to a highly sophisticated maternal-neonatal nutrient and communication system orchestrating early programming of the infant. Milk miRNAs delivered by exosomes and milk fat globules derived from mammary gland epithelial cells play a key role in this process. Exosomes resist the harsh intestinal environment, are taken up by intestinal cells via endocytosis, and reach the systemic circulation of the milk recipient. The most abundant miRNA found in exosomes and milk fat globules of human and cow's milk, miRNA-148a, attenuates the expression of DNA methyltransferase 1, which is critically involved in epigenetic regulation...
August 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29219246/identification-and-genomic-characterization-of-the-emerging-senecavirus-a-in-southeast-china-2017
#3
X Zhang, J Xiao, L Ba, F Wang, D Gao, J Zhang, C Pan, P Qi
Senecavirus A (SVA) is an emerging non-enveloped virus with a single-stranded, positive-sense RNA genome that belongs to the Senecavirus genus in the Picornaviridae family. Senecavirus A-associated swine idiopathic vesicular disease and epidemic transient neonatal losses have caused substantial economic losses for the swine industry. Here, we describe a case of re-emerging vesicular disease among sows and finishing pigs on a swine farm in Fujian Province of southeast China. Other causative pathogens, including FMDV, SVDV and VSV, were excluded, and a novel SVA strain, CH-FJZZ-2017, was isolated...
December 8, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29214581/newborn-screening-beyond-the-spot
#4
Tiina K Urv, Melissa A Parisi
The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hours of birth has proven to be a remarkable success story in the realm of public health by reducing neonatal and childhood morbidity and mortality. The Newborn Screening Saves Lives Act of 2007 and its successor, the Reauthorization Act of 2014, legislated the establishment of a Department of Health and Human Services Advisory Committee to make recommendations around newborn screening and a methodology to establish and add new conditions to a Recommended Uniform Screening Panel (RUSP) which currently includes 34 core conditions...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29214040/the-smallest-de-novo-20q11-2-microdeletion-causing-intellectual-disability-and-dysmorphic-features
#5
Hiroaki Hanafusa, Naoya Morisada, Yusuke Ishida, Ryosuke Sakata, Keiichi Morita, Shizu Miura, Ming Juan Ye, Toshiyuki Yamamoto, Nobuhiko Okamoto, Kandai Nozu, Kazumoto Iijima
The 20q11.2 microdeletion is a rare chromosomal aberration characterized by intellectual disability (ID), motor developmental delay, neonatal feeding problems, and facial dysmorphism. Here, a 2-year- and 6-month-old Japanese girl with a 1.2 Mb microdeletion of 20q11.2 showed ID, motor developmental delay, and distinctive facial features without feeding problems. The deleted region was identified by array-based comparative genomic hybridization and is the smallest reported for a 20q11.2 microdeletion.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29213350/immediate-early-response-gene-x-1-iex-1-mediates-ischemic-preconditioning-induced-cardioprotection-in-rats
#6
Ming-Jiang Xu, Yan Cai, Aijuan Qu, John Y-J Shyy, Wenjing Li, Xian Wang
Reversible myocardial ischemia/reperfusion (I/R) or ischemic preconditioning (IPC) is associated with an immediate genomic response; IPC-induced immediate early genes are associated with reduced infarct size. Because the immediate early response gene X-1 (IEX-1) plays a central role in cell apoptosis, we examine whether IEX-1 exerts protective effects against I/R injury. We found that the IEX-1 mRNA level was increased in the IPC-imposed rat heart. However, it was downregulated in the I/R rat heart, which was prevented by in situ IPC...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29207733/the-association-between-prolonged-jaundice-and-tata-box-dinucleotide-repeats-in-gilbert-s-syndrome
#7
Yadollah Zahed Pasha, Mousa Ahmadpor Kacho, Haleh Akhavan Niaki, Mehdi Tarighati, Ehsan Alaee
Introduction: Jaundice is a common condition during the neonatal period. Prolonged jaundice occurs in a large number of breastfed infants, considering the impact of genetic factors on the incidence of jaundice. Aim: To determine the association between prolonged jaundice and TATA box dinucleotide repeats in Gilbert's Syndrome (GS). Materials and Methods: In this case-control study, the case group consisted of 51 neonates with jaundice, aged more than two weeks with indirect bilirubin level higher than 10 mg/dl...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29203264/identification-of-genes-regulating-gabaergic-interneuron-maturation
#8
Keita Fukumoto, Kota Tamada, Tsuyoshi Toya, Tasuku Nishino, Yuchio Yanagawa, Toru Takumi
During embryonic development, GABAergic interneurons, a main inhibitory component in the cerebral cortex, migrate tangentially from the ganglionic eminence (GE) to cerebral cortex. After reaching the cerebral cortex, they start to extend their neurites for constructing local neuronal circuits around the neonatal stage. Aberrations in migration or neurite outgrowth are implicated in neurological and psychiatric disorders such as epilepsy, schizophrenia and autism. Previous studies revealed that in the early phase of cortical development the neural population migrates tangentially from the GE in the telencephalon and several genes have been characterized as regulators of migration and specification of GABAergic interneurons...
December 1, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/29202839/choice-of-surrogate-tissue-influences-neonatal-ewas-findings
#9
Xinyi Lin, Ai Ling Teh, Li Chen, Ives Yubin Lim, Pei Fang Tan, Julia L MacIsaac, Alexander M Morin, Fabian Yap, Kok Hian Tan, Seang Mei Saw, Yung Seng Lee, Joanna D Holbrook, Keith M Godfrey, Michael J Meaney, Michael S Kobor, Yap Seng Chong, Peter D Gluckman, Neerja Karnani
BACKGROUND: Epigenomes are tissue specific and thus the choice of surrogate tissue can play a critical role in interpreting neonatal epigenome-wide association studies (EWAS) and in their extrapolation to target tissue. To develop a better understanding of the link between tissue specificity and neonatal EWAS, and the contributions of genotype and prenatal factors, we compared genome-wide DNA methylation of cord tissue and cord blood, two of the most accessible surrogate tissues at birth...
December 5, 2017: BMC Medicine
https://www.readbyqxmd.com/read/29201125/glutaric-aciduriatype-1-clinical-and-molecular-study-in-iranian-patients-3-novel-mutations
#10
Zahra Pirzadeh, Massoud Houshmand, Jafar Nasiri, Mohsen Mollamohammadi, Mostafa Sedighi, Seyed Hassan Tonekaboni
Objective: Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to glutaryl- CoA dehydrogenase (GCDH) gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis. Materials & Methods: In this cross-sectional study, clinical manifestation, neuroimaging and metabolic findings of eleven Iranian GA1 patients of MofidChildren's Hospital, Tehran, Iranbetween 2001 and 2011,were evaluated...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29199464/sperm-rna-elements-as-markers-of-health
#11
Rayanne B Burl, Stephanie Clough, Edward Sendler, Molly Estill, Stephen A Krawetz
Idiopathic infertility, an etiology not identified as part of standard clinical assessment, represents approximately 20% of all infertility cases. Current male infertility diagnosis focuses on the concentration, motility, and morphology of spermatozoa. This is of limited value when predicting birth success and of limited utility when selecting the optimum treatment. At fertilization, spermatozoa provide their genomic contribution, as well as a set of RNAs and proteins that have distinct roles in development...
December 3, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29180750/strain-resolved-analysis-of-hospital-rooms-and-infants-reveals-overlap-between-the-human-and-room-microbiome
#12
Brandon Brooks, Matthew R Olm, Brian A Firek, Robyn Baker, Brian C Thomas, Michael J Morowitz, Jillian F Banfield
Preterm infants exhibit different microbiome colonization patterns relative to full-term infants, and it is speculated that the hospital room environment may contribute to infant microbiome development. Here, we present a genome-resolved metagenomic study of microbial genotypes from the gastrointestinal tracts of infants and from the neonatal intensive care unit (NICU) room environment. Some strains detected in hospitalized infants also occur in sinks and on surfaces, and belong to species such as Staphylococcus epidermidis, Enterococcus faecalis, Pseudomonas aeruginosa, and Klebsiella pneumoniae, which are frequently implicated in nosocomial infection and preterm infant gut colonization...
November 27, 2017: Nature Communications
https://www.readbyqxmd.com/read/29179256/synj1-gene-associated-with-neonatal-onset-of-neurodegenerative-disorder-and-intractable-seizure
#13
Nuha Al Zaabi, Noora Al Menhali, Fatma Al-Jasmi
BACKGROUND: Synaptojanin 1 is encoded by the SYNJ1(MIM 604297) and plays a major role in phosphorylation and recycling of synaptic vesicles. Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early-onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease with intractable seizure and tauopathies (MIM 617389). METHODS: We report two related children from consanguineous family presented with intractable seizure, profound developmental delay, failure to thrive, acquired microcephaly, and hypotonia...
November 27, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29178652/mutations-in-fetal-genes-involved-in-innate-immunity-and-host-defense-against-microbes-increase-risk-of-preterm-premature-rupture-of-membranes-pprom
#14
Bhavi P Modi, Maria E Teves, Laurel N Pearson, Hardik I Parikh, Hannah Haymond-Thornburg, John L Tucker, Piya Chaemsaithong, Nardhy Gomez-Lopez, Timothy P York, Roberto Romero, Jerome F Strauss
BACKGROUND: Twin studies have revealed a significant contribution of the fetal genome to risk of preterm birth. Preterm premature rupture of membranes (PPROM) is the leading identifiable cause of preterm delivery. Infection and inflammation of the fetal membranes is commonly found associated with PPROM. METHODS: We carried out whole exome sequencing (WES) of genomic DNA from neonates born of African-American mothers whose pregnancies were complicated by PPROM (76) or were normal term pregnancies (N = 43) to identify mutations in 35 candidate genes involved in innate immunity and host defenses against microbes...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29165657/rotavirus-vaccination-can-be-performed-without-viral-dissemination-in-the-neonatal-intensive-care-unit
#15
Hiroyuki Hiramatsu, Ryota Suzuki, Arisa Nagatani, Hiroko Boda, Masafumi Miyata, Fumihiko Hattori, Hiroki Miura, Ken Sugata, Shigeki Yamada, Satoshi Komoto, Koki Taniguchi, Masaru Ihira, Naoko Nishimura, Takao Ozaki, Tetsushi Yoshikawa
Background: This study was conducted to assess transmissibility of the vaccine strains after RV vaccination in a neonatal intensive care unit (NICU). Methods: Rotateq (RV5) or Rotarix (RV1) was administered to infants admitted to the NICU. Vaccinated infants (VIs, n=19) and unvaccinated infants (UVIs, n=49) whose beds were located in close proximity to the VIs were enrolled in this study. Fecal shedding of vaccine viruses and spreading of the vaccine strains within the NICU were examined using real-time reverse transcriptase polymerase chain reaction (RT-PCR)...
November 20, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29164142/pathogenesis-molecular-genetics-and-genomics-of-mycobacterium-avium-subsp-paratuberculosis-the-etiologic-agent-of-johne-s-disease
#16
REVIEW
Govardhan Rathnaiah, Denise K Zinniel, John P Bannantine, Judith R Stabel, Yrjö T Gröhn, Michael T Collins, Raúl G Barletta
Mycobacterium avium subsp. paratuberculosis (MAP) is the etiologic agent of Johne's disease in ruminants causing chronic diarrhea, malnutrition, and muscular wasting. Neonates and young animals are infected primarily by the fecal-oral route. MAP attaches to, translocates via the intestinal mucosa, and is phagocytosed by macrophages. The ensuing host cellular immune response leads to granulomatous enteritis characterized by a thick and corrugated intestinal wall. We review various tissue culture systems, ileal loops, and mice, goats, and cattle used to study MAP pathogenesis...
2017: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/29163422/a-novel-inca-c1-group-conjugative-plasmid-encoding-vim-1-metallo-beta-lactamase-mediates-the-acquisition-of-carbapenem-resistance-in-st104-klebsiella-pneumoniae-isolates-from-neonates-in-the-intensive-care-unit-of-v-monaldi-hospital-in-naples
#17
Eliana P Esposito, Stefano Gaiarsa, Mariateresa Del Franco, Valeria Crivaro, Mariano Bernardo, Susanna Cuccurullo, Francesca Pennino, Maria Triassi, Piero Marone, Davide Sassera, Raffaele Zarrilli
The emergence of carbapenemase producing Enterobacteriaceae has raised major public health concern. The aim of this study was to investigate the molecular epidemiology and the mechanism of carbapenem resistance acquisition of multidrug-resistant Klebsiella pneumoniae isolates from 20 neonates in the neonatal intensive care unit (NICU) of the V. Monaldi Hospital in Naples, Italy, from April 2015 to March 2016. Genotype analysis by pulsed-field gel electrophoresis (PFGE) and multi-locus sequence typing (MLST) identified PFGE type A and subtypes A1 and A2 in 17, 2, and 1 isolates, respectively, and assigned all isolates to sequence type (ST) 104...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29163023/perinatal-asphyxia-in-rat-alters-expression-of-novel-schizophrenia-risk-genes
#18
Alessandra Paparelli, Keiko Iwata, Tomoyasu Wakuda, Conrad Iyegbe, Robin M Murray, Nori Takei
Epidemiological studies suggest that obstetric complications, particularly those related to hypoxia during labor and delivery, are a risk factor for development of schizophrenia. The impact of perinatal asphyxia on postnatal life has been studied in a rodent model of global hypoxia, which is accompanied by cesarean section birth. This asphyxia model shows several behavioral, pharmacological, neurochemical, and neuroanatomical abnormalities in adulthood that have relevance to schizophrenia. Further, it is suggested that schizophrenia has a strong genetic component, and indeed novel candidate genes were recently identified by a genome-wide association study...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29162873/rapid-in-situ-imaging-and-whole-genome-sequencing-of-biofilm-in-neonatal-feeding-tubes-a-clinical-proof-of-concept
#19
Pauline Ogrodzki, Chi Shing Cheung, Mohamed Saad, Khaled Dahmani, Rebecca Coxill, Haida Liang, Stephen J Forsythe
The bacterial flora of nasogastric feeding tubes and faecal samples were analysed for a low-birth weight (725 g) neonate EGA 25 weeks in intensive care. Samples were collected at age 6 and 8 weeks of life. Optical coherence tomography (OCT) was used to visualise bacterial biofilms inside the nasogastric feeding tubes. The biofilm was heterogeneously distributed along the tube lumen wall, and had a depth of up to 500 µm. The bacterial biofilm and faecal samples included Enterococcus faecalis and Enterobacter hormaechei...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29162165/epigenetic-correlates-of-neonatal-contact-in-humans
#20
Sarah R Moore, Lisa M McEwen, Jill Quirt, Alex Morin, Sarah M Mah, Ronald G Barr, W Thomas Boyce, Michael S Kobor
Animal models of early postnatal mother-infant interactions have highlighted the importance of tactile contact for biobehavioral outcomes via the modification of DNA methylation (DNAm). The role of normative variation in contact in early human development has yet to be explored. In an effort to translate the animal work on tactile contact to humans, we applied a naturalistic daily diary strategy to assess the link between maternal contact with infants and epigenetic signatures in children 4-5 years later, with respect to multiple levels of child-level factors, including genetic variation and infant distress...
December 2017: Development and Psychopathology
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