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https://www.readbyqxmd.com/read/28634574/reducing-viability-bias-in-analysis-of-gut-microbiota-in-preterm-infants-at-risk-of-nec-and-sepsis
#1
Gregory R Young, Darren L Smith, Nicholas D Embleton, Janet E Berrington, Edward C Schwalbe, Stephen P Cummings, Christopher J van der Gast, Clare Lanyon
Necrotising enterocolitis (NEC) and sepsis are serious diseases of preterm infants that can result in feeding intolerance, the need for bowel resection, impaired physiological and neurological development, and high mortality rates. Neonatal healthcare improvements have allowed greater survival rates in preterm infants leading to increased numbers at risk of developing NEC and sepsis. Gut bacteria play a role in protection from or propensity to these conditions and have therefore, been studied extensively using targeted 16S rRNA gene sequencing methods...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28634103/undetectable-mannose-binding-lectin-and-corticosteroids-increase-serious-infection-risk-in-rheumatoid-arthritis
#2
Graeme J Carroll, Krista Makin, Maxine Garnsey, Max Bulsara, Bronwyn V Carroll, Shona M Curtin, Erin M Allan, Andrew McLean-Tooke, Christine Bundell, Monica L Kemp, Pooja Deshpande, Dana Ihdayhid, Sophie Coleman, Tracie Easter, James Triplett, Timothy Disteldorf, C Helen Marsden, Michaela Lucas
BACKGROUND: Infection is the leading cause of death in rheumatoid arthritis (RA). Corticosteroid (CS) use is a known and important risk factor for serious infections (SIs). Mannose binding lectin (MBL) is a genetically determined component of the innate immune system implicated in neonatal infections. OBJECTIVE: Our aim was to determine whether MBL deficiency is a risk factor for SIs in RA and to compare it with CS use and also synthetic and biologic disease-modifying antirheumatic drug (DMARD) therapy...
June 17, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28634025/impaired-cerebral-autoregulation-in-preoperative-newborn-infants-with-congenital-heart-disease
#3
Jodie K Votava-Smith, Christopher J Statile, Michael D Taylor, Eileen C King, Jesse M Pratt, David P Nelson, Erik C Michelfelder
OBJECTIVES: To characterize cerebral autoregulation (CA) in preoperative newborn infants with congenital heart disease (CHD). METHODS: This was a prospective, pilot study of term newborns with CHD who required intensive care. Continuous mean arterial blood pressure (MAP), cerebral tissue oxygen saturation (SCTO2) via near-infrared spectroscopy, and arterial oxygen saturation (SaO2) were collected. Significant low-frequency coherence between MAP and SCTO2 was used to define impaired CA in 20-minute epochs...
May 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28633098/high-prevalence-of-cytomegalovirus-infection-in-surgical-intestinal-specimens-from-infants-with-necrotizing-enterocolitis-and-spontaneous-intestinal-perforation-a-retrospective-observational-study
#4
Soley Omarsdottir, Margret Agnarsdottir, Charlotte Casper, Abiel Orrego, Mireille Vanpée, Afsar Rahbar, Cecilia Söderberg-Nauclér
BACKGROUND: Necrotizing enterocolitis (NEC) is a severe, often fatal gastrointestinal emergency that predominantly affects preterm infants, and there is evidence that neonatal cytomegalovirus (CMV) infection may in some cases contribute to its pathogenesis. OBJECTIVES: This study aimed to evaluate the prevalence of CMV in infants with NEC. STUDY DESIGN: Seventy intestinal specimens from 61 infants with NEC, spontaneous intestinal perforation (SIP), or related surgical complications were collected at Karolinska University Hospital and Uppsala University Hospital, Sweden...
June 3, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28632739/validity-of-a-minimally-invasive-autopsy-tool-for-cause-of-death-determination-in-pediatric-deaths-in-mozambique-an-observational-study
#5
Quique Bassat, Paola Castillo, Miguel J Martínez, Dercio Jordao, Lucilia Lovane, Juan Carlos Hurtado, Tacilta Nhampossa, Paula Santos Ritchie, Sónia Bandeira, Calvino Sambo, Valeria Chicamba, Mamudo R Ismail, Carla Carrilho, Cesaltina Lorenzoni, Fabiola Fernandes, Pau Cisteró, Alfredo Mayor, Anelsio Cossa, Inacio Mandomando, Mireia Navarro, Isaac Casas, Jordi Vila, Khátia Munguambe, Maria Maixenchs, Ariadna Sanz, Llorenç Quintó, Eusebio Macete, Pedro Alonso, Clara Menéndez, Jaume Ordi
BACKGROUND: In recent decades, the world has witnessed unprecedented progress in child survival. However, our knowledge of what is killing nearly 6 million children annually in low- and middle-income countries remains poor, partly because of the inadequacy and reduced precision of the methods currently utilized in these settings to investigate causes of death (CoDs). The study objective was to validate the use of a minimally invasive autopsy (MIA) approach as an adequate and more acceptable substitute for the complete diagnostic autopsy (CDA) for pediatric CoD investigation in a poor setting...
June 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28632735/validity-of-a-minimally-invasive-autopsy-for-cause-of-death-determination-in-stillborn-babies-and-neonates-in-mozambique-an-observational-study
#6
Clara Menendez, Paola Castillo, Miguel J Martínez, Dercio Jordao, Lucilia Lovane, Mamudo R Ismail, Carla Carrilho, Cesaltina Lorenzoni, Fabiola Fernandes, Tacilta Nhampossa, Juan Carlos Hurtado, Mireia Navarro, Isaac Casas, Paula Santos Ritchie, Sonia Bandeira, Sibone Mocumbi, Zara Jaze, Flora Mabota, Khátia Munguambe, Maria Maixenchs, Ariadna Sanz, Inacio Mandomando, Alfons Nadal, Anna Goncé, Carmen Muñoz-Almagro, Llorenç Quintó, Jordi Vila, Eusebio Macete, Pedro Alonso, Jaume Ordi, Quique Bassat
BACKGROUND: Over 5 million stillbirths and neonatal deaths occur annually. Limited and imprecise information on the cause of these deaths hampers progress in achieving global health targets. Complete diagnostic autopsies (CDAs)-the gold standard for cause of death determination-are difficult to perform in most high-burden settings. Therefore, validation of simpler and more feasible methods is needed. METHODS AND FINDINGS: In this observational study, the validity of a minimally invasive autopsy (MIA) method in determining the cause of death was assessed in 18 stillbirths and 41 neonatal deaths by comparing the results of the MIA with those of the CDA...
June 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28630471/candidatus-mycoplasma-girerdii-replicates-diversifies-and-co-occurs-with-trichomonas-vaginalis-in-the-oral-cavity-of-a-premature-infant
#7
Elizabeth K Costello, Christine L Sun, Erica M Carlisle, Michael J Morowitz, Jillian F Banfield, David A Relman
Genital mycoplasmas, which can be vertically transmitted, have been implicated in preterm birth, neonatal infections, and chronic lung disease of prematurity. Our prior work uncovered 16S rRNA genes belonging to a novel, as-yet-uncultivated mycoplasma (lineage 'Mnola') in the oral cavity of a premature neonate. Here, we characterize the organism's associated community, growth status, metabolic potential, and population diversity. Sequencing of genomic DNA from the infant's saliva yielded 1.44 Gbp of high-quality, non-human read data, from which we recovered three essentially complete (including 'Mnola') and three partial draft genomes (including Trichomonas vaginalis)...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28630177/integrated-genome-and-transcriptome-sequencing-identifies-a-noncoding-mutation-in-the-genome-replication-factor-donson-as-the-cause-of-microcephaly-micromelia-syndrome
#8
Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Spooner, Steven C Ryu, Princess C Elhosary, Jillian M Richardson, Danielle Tierney, Christopher A Robinson, Rajni Chibbar, Dana Diudea, Rebecca Folkerth, Sheldon Wiebe, A James Barkovich, Ganeshwaran H Mochida, James Irvine, Edmond G Lemire, Patricia Blakley, Christopher A Walsh
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS)...
June 19, 2017: Genome Research
https://www.readbyqxmd.com/read/28629786/-pregnancy-and-delivery-for-women-with-congenital-spinal-cord-defects-and-neurogenic-bladder
#9
Q Manach, M Dommergues, P Denys, K Loiseau, B Idiard-Chamois, E Chartier-Kastler, V Phé
INTRODUCTION: Data are scarce regarding pregnancy and delivery among women with a neurogenic bladder due to congenital spinal cord defects. OBJECTIVE: To report the obstetrical and urological outcomes of women with congenital spinal cord defects and vesico-sphincteric disorders. METHODS: A retrospective multicentric study included all consecutive women with a neurogenic bladder due to congenital spinal defects, who delivered between January 2005 and December 2014...
June 16, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28629661/cornelia-de-lange-syndrome-congenital-heart-disease-in-149-patients
#10
Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J Ramos Fuentes, Juan Pie Juste
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28629418/prenatal-brain-disruption-in-isolated-sulfite-oxidase-deficiency
#11
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD. RESULTS: We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth...
June 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28628951/cranial-indicators-identified-for-peak-incidence-of-otitis-media
#12
Anthony Pagano, Eugene Wang, Derek Yuan, Daniel Fischer, Charles Bluestone, Samuel Marquez, Jeffrey Laitman
Acute otitis media (AOM) is one of the most common pediatric conditions worldwide. Peak age of occurrence for AOM has been identified within the first postnatal year and it remains frequent until approximately six postnatal years. Morphological differences between adults and infants in the cartilaginous Eustachian tube (CET) and associated structures may be responsible for development of this disease yet few have investigated normal growth trajectories. We tested hypotheses on coincidence of skeletal growth changes and known ages of peak AOM occurrence...
June 19, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28628913/age-dependent-effects-of-alk5-inhibition-and-mechanism-of-neuroprotection-in-neonatal-hypoxic-ischemic-brain-injury
#13
Brian H Kim, Mariano Guardia Clausi, Michelle Frondelli, Israel C Nnah, Chaitali Saqcena, Radek Dobrowolski, Steven W Levison
Neonatal encephalopathy due to hypoxic-ischemic (HI) brain injury triggers a wave of neuroinflammatory events attributed to causing the progressive degeneration and functional deficits seen weeks after the initial insult. In a recent set of studies, we evaluated the therapeutic efficacy of a small molecule antagonist for ALK5 (activin-like kinase 5 ), TGF-β receptor in a rat model of moderate perinatal HI and found significant improvements in neurologic outcomes. Here, we have extended those studies to evaluate the efficacy of delayed TGF-β receptor antagonism on postnatal day (P) 6 and P9 HI rat pups with and without hypothermia...
June 20, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28628231/gene-therapy-decreases-seizures-in-a-model-of-incontinentia-pigmenti
#14
Godwin K Dogbevia, Kathrin Töllner, Jakob Körbelin, Sonja Bröer, Dirk A Ridder, Hanna Grasshoff, Claudia Brandt, Jan Wenzel, Beate K Straub, Martin Trepel, Wolfgang Löscher, Markus Schwaninger
OBJECTIVE: Incontinentia pigmenti (IP) is a genetic disease leading to severe neurological symptoms, such as epileptic seizures, but no specific treatment is available. IP is caused by pathogenic variants that inactivate the Nemo gene. Replacing Nemo through gene therapy might provide therapeutic benefits. METHODS: In a mouse model of IP we administered a single intravenous dose of the AAV vector AAV-BR1-CAG-NEMO delivering the Nemo gene to the brain endothelium...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28627690/data-mining-and-pathway-analysis-of-glucose-6-phosphate-dehydrogenase-with-natural-language-processing
#15
Long Chen, Chunhua Zhang, Yanling Wang, Yuqian Li, Qiaoqiao Han, Huixin Yang, Yuechun Zhu
Human glucose-6-phosphate dehydrogenase (G6PD) is a crucial enzyme in the pentose phosphate pathway, and serves an important role in biosynthesis and the redox balance. G6PD deficiency is a major cause of neonatal jaundice and acute hemolyticanemia, and recently, G6PD has been associated with diseases including inflammation and cancer. The aim of the present study was to conduct a search of the National Center for Biotechnology Information PubMed library for articles discussing G6PD. Genes that were identified to be associated with G6PD were recorded, and the frequency at which each gene appeared was calculated...
June 15, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28627661/altered-expression-of-ppar%C3%A2-%C3%AE-and-trpc-in-neonatal-rats-with-persistent-pulmonary-hypertension
#16
Yanna Du, Jianhua Fu, Li Yao, Lin Qiao, Na Liu, Yujiao Xing, Xindong Xue
Persistent pulmonary hypertension of the newborn (PPHN) is a life‑threatening disease that is commonly observed in the neonatal intensive care unit. PPHN is pathologically characterized by pulmonary vascular remodeling and, in particular, pulmonary artery smooth muscle cell (PASMC) proliferation. Decreased expression levels of peroxisome proliferator‑activated receptor γ (PPAR‑γ), which is a member of the nuclear receptor hormone superfamily, in combination with elevated expressions of transient receptor potential cation channel, subfamily C, member 1 (TRPC1) and TRPC6 contributes to the PASMC proliferation and excessive pulmonary vascular remodeling in adult pulmonary hypertension (PH)...
June 9, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28627493/parasitic-infections-in-the-east-asian-finless-porpoise-neophocaena-asiaeorientalis-sunameri-living-off-the-chinese-yellow-bohai-sea-coast
#17
X L Wan, J S Zheng, W X Li, X Y Zeng, J W Yang, Y J Hao, D Wang
Parasitic disease is among the major causes of health problems in marine mammals. However, little information on parasitic species composition and infection levels in finless porpoises (Neophocaena spp.) is available. In this study, we report the first systematic survey on parasitic infections in the East Asian finless porpoise N. asiaeorientalis sunameri (EAFP) living off the Chinese Yellow/Bohai Sea coast. Using both morphological and molecular methods, 5 parasitic helminths were identified: Campula oblonga in the liver and pancreas; Synthesium seymouri in the pyloric stomach and duodenum ampulla; Anisakis pegreffii in the forestomach, main stomach, and esophagus; Halocercus sp...
June 19, 2017: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/28627444/associative-role-of-tyms6bpdel-polymorphism-and-resulting-hyperhomocysteinemia-in-the-pathogenesis-of-preterm-delivery-and-associated-complications-a-study-from-northeast-india
#18
Diptika Tiwari, Chandana Ray Das, Purabi Deka Bose, Sujoy Bose
Aberrations including genetic alterations in folate pathway are detrimental in multiple disease pathogenesis, including pregnancy. The present study is based on the screening of the associative role of TYMS 14946bp deletion(del) polymorphism and associated hyperhomocysteinemia in susceptibility to preterm delivery (PTD), which is strongly associated with neonatal mortality and morbidity. METHODS: A total of 209 PTD cases {extremely preterm (n=22), very preterm (n=43) and moderately preterm (n=144)} and 194 term delivery cases were evaluated for TYMS 14946bp deletion and its association with preterm delivery, pregnancy outcome, baby birth weight and homocysteine estimation...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28627012/effect-of-betamethasone-on-fetal-pulmonary-and-umbilical-artery-doppler-velocimetry-and-relationship-with-respiratory-distress-syndrome-development
#19
Emre Sinan Güngör, Gülşah İlhan, Hüseyin Gültekin, Ali Galip Zebitay, Serdar Cömert, Fatma Ferda Verit
OBJECTIVES: Respiratory distress syndrome (RDS) is a major cause of neonatal morbidity and mortality. It is primarily a disease of premature neonates. The aim of this study was to evaluate the impact of maternal betamethasone administration on the fetal pulmonary arteries (PAs) and umbilical arteries (UAs) and the correlation between RDS development and PA Doppler results. METHODS: Forty singleton pregnancies between 24 and 34 gestational weeks with a diagnosis of preterm birth were included prospectively...
June 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28626982/vaginal-seeding-or-vaginal-microbial-transfer-from-the-mother-to-the-cesarean-born-neonate-a-commentary-regarding-clinical-management
#20
Thor Haahr, Julie Glavind, Paul Axelsson, Margit Bistrup Fischer, Johanna Bjurström, Gudbjörg Andrésdóttir, Dorte Teilmann-Jørgensen, Ulla Bonde, Nina Olsén Sørensen, Margrethe Møller, Jens Fuglsang, Per G Ovesen, Jesper P Petersen, Jakob Stokholm, Tine D Clausen
Recent evidence suggests cesarean delivery (CD) to be a risk factor for inflammatory and metabolic diseases such as asthma, allergies and other chronic immune disorders in the child. One hypothetical pathogenesis of these associations has been proposed to be a disruption of the neonatal colonization (NC) after CD. To further support this hypothesis, it has been observed that the effect of CD on NC was different according to type of CD, i.e. planned or emergency, and that the risk of asthma in children born by CD was mitigated by rupture of membranes, though still increased compared to children delivered vaginally...
June 18, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
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