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Neonatal genomics

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https://www.readbyqxmd.com/read/29899005/-serratia-marcescens-outbreak-in-a-neonatal-intensive-care-unit-nicu-new-insights-from-next-generation-sequencing-applications
#1
Christine Martineau, Xuejing Li, Cindy Lalancette, Thérèse Perreault, Eric Fournier, Julien Tremblay, Milagros Gonzales, Étienne Yergeau, Caroline Quach
Serratia marcescens is an environmental bacterium commonly associated with outbreaks in neonatal intensive care units (NICU). Investigation of S. marcescens outbreaks requires efficient recovery and typing of clinical and environmental isolates. In this study, we described how the use of next-generation sequencing applications, such as bacterial whole-genome sequencing (WGS) and bacterial community profiling, could improve S. marcescens outbreak investigation. Phylogenomic links and potential antibiotic resistance genes and plasmids in S...
June 13, 2018: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/29896749/-analysis-of-a-neonate-with-bullous-congenital-ichthyosiform-erythroderma-with-next-generation-sequencing
#2
Yuqiang Lyu, Chuankui Shi, Kaihui Zhang, Min Gao, Yi Liu
OBJECTIVE: To explore the genetic cause and clinical features of a neonate with bullous congenital ichthyosiform erythroderma. METHODS: The patient was examined thoroughly. Following the extraction of genomic DNA, next generation sequencing was performed to analyze the genetic cause. RESULTS: The patient manifested generalized erythema, blistering, and extensive exfoliation of the skin. A heterozygous missence 482T>G mutation was found in the first exon of KRT10 gene, which led to a p...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29891551/cardiac-specific-developmental-and-epigenetic-functions-of-jarid2-during-embryonic-development
#3
Eunjin Cho, Mattew R Mysliwiec, Clayton D Carlson, Assem Z Ansari, Robert J Schwartz, Youngsook Lee
Epigenetic regulation is critical in normal cardiac development. We have demonstrated that the deletion of Jarid2  (Jumonji (Jmj) A/T-rich interaction domain 2) in mice results in cardiac malformations recapitulating human congenital cardiac disease and dysregulation of gene expression. However, the precise developmental and epigenetic functions of Jarid2 within the developing heart remain to be elucidated. Here, we determined the cardiac-specific functions of Jarid2 and the genetic networks regulated by Jarid2...
June 11, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29890547/a-novel-c-125-t-g-p-val42gly-mutation-in-the-human-ins-gene-leads-to-neonatal-diabetes-mellitus-via-a-decrease-in-insulin-synthesis
#4
Fei Sun, Wenhua Du, Junhua Ma, Mingjun Gu, Jingnan Wang, Hongling Zhu, Huaidong Song, Guanqi Gao
BACKGROUND: Neonatal diabetes mellitus is likely caused by monogenic mutations, several of which have been identified. INS mutations have a broad spectrum of clinical presentations, ranging from severe neonatal onset to mild adult onset, which suggests that the products of different mutant INS alleles behave differently and utilize distinct mechanisms to induce diabetes. In this study, a neonatal diabetes mellitus patient's INS gene was sequenced, and functional experiments were conducted...
June 11, 2018: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29889020/clostridium-neonatale-sp-nov-linked-to-necrotizing-enterocolitis-in-neonates-and-a-clarification-of-species-assignable-to-the-genus-clostridium-prazmowski-1880-emend-lawson-and-rainey-2016
#5
Kathryn Bernard, Tamara Burdz, Deborah Wiebe, Michelle Alfa, Anne-Marie Bernier
A description of an outbreak of necrotizing enterocolitis among neonates, linked to the putative novel species Clostridium neonatale and assignable to the genus Clostridium, was previously reported in brief but that name had never been validly published (Alfa et al. Clin Inf Dis 2002;35:S101-S105). Features of this taxon group and its phylogenetic position with respect to contemporary species in the genus Clostridium were recently reviewed and still found to be unique. Therefore, we provide here a description based on biochemical, chemotaxonomic and antimicrobial susceptibility testing (AST), matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) MS, 16S rRNA gene sequencing as well as information obtained by whole genome sequencing (WGS) for strains 99A005T and 99A006...
June 11, 2018: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/29875269/nerve-injury-induced-chronic-pain-is-associated-with-persistent-dna-methylation-reprogramming-in-dorsal-root-ganglion
#6
Judit Garriga, Geoffroy Laumet, Shao-Rui Chen, Yuhao Zhang, Jozef Madzo, Jean-Pierre J Issa, Hui-Lin Pan, Jaroslav Jelinek
Nerve injury-induced hyperactivity of primary sensory neurons in the dorsal root ganglion (DRG) contributes to chronic pain development, but the underlying epigenetic mechanisms remain poorly understood. Here we determined genome-wide changes in DNA methylation in the nervous system in neuropathic pain. Spinal nerve ligation (SNL), but not paclitaxel treatment, in male Sprague-Dawley rats induced a consistent low-level hypomethylation in the CpG sites in the DRG during the acute and chronic phase of neuropathic pain...
June 6, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29873628/high-diversity-in-sccmec-elements-among-multidrug-resistant-staphylococcus-haemolyticus-strains-originating-from-paediatric-patients-characterization-of-a-new-composite-island
#7
Farideh Hosseinkhani, Matthias Tammes Buirs, Fereshteh Jabalameli, Mohammad Emaneini, Willem B van Leeuwen
PURPOSE: Staphylococcus haemolyticus has emerged as a highly antimicrobial-resistant healthcare-associated pathogen, in particular for patients admitted to neonatal intensive care. The objective of this study was to study the nature of SCCmec types among MDR-SH strains isolated from paediatric patients. METHODOLOGY: S. haemolyticus strains (n=60) were isolated from paediatric patients. Antibiotic resistance patterns were established using the disk agar diffusion and micro-broth dilution methods...
June 6, 2018: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/29852488/perinatal-origins-of-adult-disease
#8
Umberto Simeoni, Jean-Baptiste Armengaud, Benazir Siddeek, Jean-François Tolsa
Epidemiological and experimental studies have shown that the peri-conception period, pregnancy, and infancy are windows of particular sensibility to environmental clues which influence lifelong trajectories across health and disease. Nutrition, stress, and toxins induce epigenetic marks that control long-term gene expression patterns and can be transmitted transgenerationally. Chronic diseases of adulthood such as hypertension, diabetes, and obesity thus have early, developmental origins in the perinatal period...
2018: Neonatology
https://www.readbyqxmd.com/read/29848880/-does-malnutrition-during-fetal-life-have-a-potential-to-be-a-precipitating-factor-for-developmental-disorders
#9
Tamio Furuse, Shigeharu Wakana
OBJECTIVES: The developmental origins of health and disease paradigm (DOHaD) is a concept that fetal environmental factors affect adult phenotypes. We performed experiments to evaluate the DOHaD theory in developmental disorders using mouse models. METHODS: In vitro fertilization and embryo transfer techniques were used for mouse production. The AIN93G-control diet, which contains 20% protein (CD), 5% protein-restricted diet (PR), and PR with supplemental folic acid (FA) were provided as experimental diets to mothers...
2018: Nihon Eiseigaku Zasshi. Japanese Journal of Hygiene
https://www.readbyqxmd.com/read/29808244/impact-of-toll-like-receptor-4-stimulation-on-human-neonatal-neutrophil-spontaneous-migration-transcriptomics-and-cytokine-production
#10
Steven L Raymond, Russell B Hawkins, Tyler J Murphy, Jaimar C Rincon, Julie A Stortz, María Cecilia López, Ricardo Ungaro, Felix Ellett, Henry V Baker, James L Wynn, Lyle L Moldawer, Daniel Irimia, Shawn D Larson
Neonates rely on their innate immune system, and neutrophils in particular, to recognize and combat life-threatening bacterial infections. Pretreatment with lipopolysaccharide (LPS), a toll-like receptor (TLR) 4 agonist, improves survival to polymicrobial sepsis in neonatal mice by enhancing neutrophil recruitment. To understand the response of human neonatal neutrophils to TLR4 stimulation, ex vivo spontaneous neutrophil migration, neutrophil transcriptomics, and cytokine production in the presence and absence of LPS were measured directly from whole blood of adults, term neonates, and preterm neonates...
May 28, 2018: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/29807621/polygenic-risk-scores-school-achievement-and-risk-for-schizophrenia-a-danish-population-based-study
#11
Holger J Sørensen, Jean-Christophe Debost, Esben Agerbo, Michael E Benros, John J McGrath, Preben Bo Mortensen, Anne Ranning, Carsten Hjorthøj, Ole Mors, Merete Nordentoft, Liselotte Petersen
BACKGROUND: Studies have suggested that poor school achievement is associated with increased risk of schizophrenia; however, the possible genetic contribution to this association is unknown. We investigated the possible effect of the polygenic risk score (PRS) for schizophrenia (PRSSCZ ) and for educational attainment (PRSEDU ) on the association between school performance and later schizophrenia. METHODS: We conducted a case-cohort study on a Danish population-based sample born from 1987 to 1995 comprising 1470 individuals with schizophrenia and 7318 subcohort noncases...
May 3, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29779414/the-effect-of-intrauterine-growth-on-leukocyte-telomere-length-at-birth
#12
Alketa Stefa, Agaristi Lamprokostopoulou, Despina D Briana, Anna Kontogeorgou, Ifigeneia Papageorgiou, Ariadne Malamitsi-Puchner, Ourania Tsitsilonis, Sarantis Gagos, Evangelia Charmandari
OBJECTIVE: Telomeres are specialized nucleoprotein structures located at the ends of chromosomes, which play a crucial role in genomic stability. Telomere shortening has been proposed as a biomarker for the onset of age-related diseases. This study aimed to determine whether restricted or increased intrauterine growth affects leukocyte telomere length (LTL) at birth. MATERIAL AND METHODS: One hundred sixty five (n = 165) full-term neonates participated in the study...
May 20, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29754767/preconception-carrier-screening-by-genome-sequencing-results-from-the-clinical-laboratory
#13
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Christine Pak, Amiee Potter, Michael O Dorschner, Deborah A Nickerson, Peggy D Robertson, Gail P Jarvik, Laura M Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F Rope, Jacob Reiss, Tia Kauffman, Marian J Gilmore, Patricia Himes, Benjamin Wilfond, Katrina A B Goddard, C Sue Richards
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29751744/a-case-of-raine-syndrome-presenting-with-facial-dysmorphy-and-review-of-literature
#14
Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Most of the cases result in neonatal death. However, a few non-lethal RS cases have been reported where patients survive till adulthood and exhibits a heterogeneous clinical phenotype...
May 11, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29751732/population-screening-for-hemoglobinopathies
#15
H W Goonasekera, C S Paththinige, V H W Dissanayake
Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases...
May 11, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29750386/saliva-in-the-omics-era-a-promising-tool-in-paediatrics
#16
Eftychia Pappa, Eleni Kousvelari, Heleni Vastardis
In vulnerable populations, such as infants and children, saliva makes the perfect diagnostic medium because of its non-invasive collection, easy handling and storage of samples. Its unique biomarker profiles help tremendously in the diagnosis of many diseases and conditions. In fact, saliva genomics, proteomics, transcriptomics, metabolomics and microbiome-based discoveries have led to complementary and powerful diagnostic information. In children and neonates, saliva is the preferred medium not only for diagnosis of caries and aggressive periodontitis but also for a number of systemic conditions, metabolic diseases, cognitive functions, stress assessment and evaluation of immunological and inflammatory responses to vaccination...
May 11, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29750363/molecular-typing-and-whole-genome-next-generation-sequencing-of-human-adenovirus-8-strains-recovered-from-four-2012-outbreaks-of-keratoconjunctivitis-in-new-york-state
#17
Daryl M Lamson, Adriana Kajon, Matthew Shudt, Monica Quinn, Alexandra Newman, Joan Whitehouse, Jane Greenko, Eleanor Adams, Kirsten St George
Ocular infections caused by human adenovirus (HAdV) are highly contagious. The most severe are usually caused by members of species HAdV-D (types HAdV8, 19 ,37, 53, 54 and 56) and can manifest as epidemic keratoconjunctivitis (EKC) often resulting in prolonged impairment of vision. During the early months of 2012, EKC outbreaks occurred in neonatal intensive care units (NICU) in three hospitals in New York State (New York and Suffolk Counties). A total of 32 neonates were affected. For 14 of them, HAdV8 was laboratory-confirmed as the causative agent...
May 11, 2018: Journal of Medical Virology
https://www.readbyqxmd.com/read/29747586/selective-modulation-of-local-linkages-between-active-transcription-and-oxidative-demethylation-activity-shapes-cardiomyocyte-specific-gene-body-epigenetic-status-in-mice
#18
Mayumi Oda, Shunichi Wakabayashi, N Ari Wijetunga, Shinsuke Yuasa, Hirokazu Enomoto, Ruri Kaneda, Sung Han Yoon, Nishant Mittal, Qiang Jing, Masako Suzuki, John M Greally, Keiichi Fukuda, Shinji Makino
BACKGROUND: Cell-type-specific genes exhibit heterogeneity in genomic contexts and may be subject to different epigenetic regulations through different gene transcriptional processes depending on the cell type involved. The gene-body regions (GBRs) of some cardiomyocyte (CM)-specific genes are long and highly hypomethylated in CMs. To explore the cell-type specificities of epigenetic patterns and functions, multiple epigenetic modifications of GBRs were compared among CMs, liver cells and embryonic stem cells (ESCs)...
May 10, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29742464/gastrointestinal-microbiota-and-mucosal-immune-gene-expression-in-neonatal-pigs-reared-in-a-cross-fostering-model
#19
Nidia Maradiaga, Brian Aldridge, Mohamed Zeineldin, James Lowe
Cross fostering is employed to equalize the number of piglet between litters ensuring colostrum intake for their survival and growth. However, little is known about the impact of cross fostering on the intestinal microbiota and mucosal immune gene expression of the neonatal pig. The objective of this study was to determine the influence of maternal microbial communities on the gastrointestinal (GI) microbiota and mucosal immune gene expression in young pigs reared in a cross-fostering model. Piglets were given high quality colostrum from birth dam or foster dam upon birth...
May 6, 2018: Microbial Pathogenesis
https://www.readbyqxmd.com/read/29742151/genetic-diversity-and-virulence-profiles-of-listeria-monocytogenes-recovered-from-bulk-tank-milk-milk-filters-and-milking-equipment-from-dairies-in-the-united-states-2002-to-2014
#20
Seon Woo Kim, Julie Haendiges, Eric N Keller, Robert Myers, Alexander Kim, Jason E Lombard, Jeffrey S Karns, Jo Ann S Van Kessel, Bradd J Haley
Unpasteurized dairy products are known to occasionally harbor Listeria monocytogenes and have been implicated in recent listeriosis outbreaks and numerous sporadic cases of listeriosis. However, the diversity and virulence profiles of L. monocytogenes isolates recovered from these products have not been fully described. Here we report a genomic analysis of 121 L. monocytogenes isolates recovered from milk, milk filters, and milking equipment collected from bovine dairy farms in 19 states over a 12-year period...
2018: PloS One
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