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Neonatal encephalopathy

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https://www.readbyqxmd.com/read/28822711/efficacy-of-passive-hypothermia-and-adverse-events-during-transport-of-asphyxiated-newborns-according-to-the-severity-of-hypoxic-ischemic-encephalopathy
#1
Nuria Carreras, Miguel Alsina, Ana Alarcon, Gemma Arca-Díaz, Thais Agut, Alfredo García-Alix
OBJECTIVE: To determine if the efficacy of passive hypothermia and adverse events during transport are related to the severity of neonatal hypoxic-ischemic encephalopathy (HIE). METHODS: This was a retrospective study of 67 infants with HIE, born between April 2009 and December 2013, who were transferred for therapeutic hypothermia and cooled during transport. RESULTS: Fifty-six newborns (84%) were transferred without external sources of heat and 11 (16%) needed an external heat source...
August 17, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28818555/pyridoxine-5-phosphate-oxidase-pnpo-deficiency-clinical-and-biochemical-alterations-associated-with-the-c-347g-a-p-%C3%A2-arg116gln-mutation
#2
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
BACKGROUND: Pyridoxal-5(')-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5(')-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established. OBJECTIVE: This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation...
August 12, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28817111/prospective-cohort-study-for-identification-of-underlying-genetic-causes-in-neonatal-encephalopathy-using-whole-exome-sequencing
#3
Theodora U J Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian Marshall, Saadet Mercimek-Andrews
PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defects, we applied whole-exome sequencing (WES) in term newborns with neonatal encephalopathy as a prospective cohort study.MethodsTerm newborns with neonatal encephalopathy and no history of perinatal asphyxia were included. WES was performed using patient and both parents' DNA...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28814249/the-neurological-sequelae-of-neonatal-hyperbilirubinemia-definitions-diagnosis-and-treatment-of-the-kernicterus-spectrum-disorders-ksds
#4
Steven Shapiro, Jean Baptiste Le Pichon, Sean M Riordan, Jon Watchkoe
Despite its lengthy history the study of benign jaundice, hyperbilirubinemia and kernicterus suffers from a lack of clarity and consistency in the key terms used to describe both the clinical and pathophysiological nature of these conditions. This has led to multiple terms being used to describe similar conditions (i.e. kernicterus and chronic bilirubin encephalopathy) or the same term being used to describe different concepts (i.e. BIND as a descriptor of the signs of bilirubin neurotoxicity, mild kernicterus, or as a scale to assess bilirubin toxicity)...
August 14, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28800288/population-based-study-of-the-national-implementation-of-therapeutic-hypothermia-in-infants-with-hypoxic-ischemic-encephalopathy
#5
Juan Arnaez, Alfredo García-Alix, Gemma Arca, Sonia Caserío, Eva Valverde, M Teresa Moral, Isabel Benavente-Fernández, Simón Lubián-López
Data on the incidence of hypoxic-ischemic encephalopathy (HIE) in the first 6 hours of life together with the implementation of therapeutic hypothermia (TH) are relevant to delineate actions to achieve the lowest rates of neonatal mortality, morbidity, and long-term impact on health associated with HIE. This is population-based national survey study, including newborns ≥35 weeks of gestation with moderate-to-severe HIE from all level III neonatal care units, to provide the incidence of HIE for the period 2012-2013, and the implementation of TH up to June 2015 in Spain...
August 11, 2017: Therapeutic Hypothermia and Temperature Management
https://www.readbyqxmd.com/read/28797191/systematic-review-seeking-erythropoietin-role-for-neuroprotection-in-neonates-with-hypoxic-ischemic-encephalopathy-presently-where-do-we-stand
#6
Bhawan Deep Garg, Deepak Sharma, Anju Bansal
BACKGROUND: Hypoxic ischemic encephalopathy (HIE) is one of the leading causes of neonatal mortality in developing countries and leads to some form of neuro-developmental disability in latter part of life. AIMS: To evaluate the role of erythropoietin (EPO) in neuro-protection for term newborn having HIE. METHOD: The literature search was done for various trials by searching the Cochrane Central Register of Controlled Trials (CENTRAL), PubMed, EMBASE, Web of science, Scopus, Index Copernicus, and other data base...
August 10, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28796992/abnormal-interhemispheric-synchrony-in-neonatal-hypoxic-ischemic-encephalopathy-a-retrospective-pilot-study
#7
Elise Leroy-Terquem, Anne Isabelle Vermersch, Pauline Dean, Ziad Assaf, Nathalie Boddaert, Alexandre Lapillonne, Jean-François Magny
BACKGROUND: Abnormal interhemispheric synchrony has been described in many clinical compromises in brain function, but its prognostic value in neonatal hypoxic-ischemic encephalopathy (HIE) is unknown. OBJECTIVES: The study aimed at describing the frequency of abnormal interhemispheric synchrony in infants with HIE and to explore its prognostic value. The main outcome was survival without major disabilities. METHODS: We performed a single-center retrospective cohort study and enrolled 40 neonates with HIE who underwent hypothermia...
August 11, 2017: Neonatology
https://www.readbyqxmd.com/read/28794088/ventilator-respiratory-graphic-diagnosis-of-hiccupping-in-non-ketotic-hyperglycinaemia
#8
Eliana Panayiotou, Kelly Spike, Colin Morley, Gusztav Belteki
A neonate presented with early encephalopathy deteriorated and was intubated and ventilated. Ventilator data were monitored and recorded at 100 Hz for 24 hours.The infant had many sudden deep inspirations during this time which were initially thought to be seizures. These were characterised by short, rapid, large inspirations when the airway pressure was reduced well below the positive end expiratory pressure level. Analysis of the ventilator data showed that these were hiccupping episodes misinterpreted by the ventilator as spontaneous breaths and triggering ventilator inflations...
August 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28792689/predictive-value-of-neurodevelopmental-outcome-and-serum-tau-protein-level-in-neonates-with-hypoxic-ischemic-encephalopathy
#9
Hong-Yan Lv, Su-Jing Wu, Xiu-Ling Gu, Qiu-Li Wang, Peng-Shun Ren, Yan Ma, Li-Ying Peng, Lin-Hong Jin, Lian-Xiang Li
BACKGROUND: Tau protein is s specific protein expressed by neurons in the central nervous system. Elevated serum Tau protein is associated with many diseases of the central nervous system. The serum Tau protein level in neonates with hypoxic ischemic encephalopathy (HIE) is still poorly understood. METHODS: Forty-one human neonates with HIE and thirty-five healthy neonates (control group) within 24 hours after birth were studied. Tau protein in serum was detected by enzyme-linked immunosorbent assay...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28780500/perinatal-risk-factors-for-neonatal-encephalopathy-an-unmatched-case-control-study
#10
Cally J Tann, Margaret Nakakeeto, Barbara A Willey, Margaret Sewegaba, Emily L Webb, Ibby Oke, Emmanuel Derek Mutuuza, Donald Peebles, Margaret Musoke, Kathryn A Harris, Neil J Sebire, Nigel Klein, Jennifer J Kurinczuk, Alison M Elliott, Nicola J Robertson
OBJECTIVE: Neonatal encephalopathy (NE) is the third leading cause of child mortality. Preclinical studies suggest infection and inflammation can sensitise or precondition the newborn brain to injury. This study examined perinatal risks factor for NE in Uganda. DESIGN: Unmatched case-control study. SETTING: Mulago National Referral Hospital, Kampala, Uganda. METHODS: 210 term infants with NE and 409 unaffected term infants as controls were recruited over 13 months...
August 5, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28772198/cerebral-regional-oxygen-saturation-trends-in-infants-with-hypoxic-ischemic-encephalopathy
#11
Siddharth V Jain, Lindsay Pagano, Maria Gillam-Krakauer, James C Slaughter, Sumit Pruthi, Barbara Engelhardt
BACKGROUND: Neurological outcomes in neonatal hypoxic-ischemic encephalopathy (HIE) continue to be sub-optimal despite therapeutic hypothermia (TH). Cerebral near-infrared spectroscopy provides real-time regional oxygen saturation (CrSO2) that may be a marker of adverse MRI findings and neurodevelopmental outcomes. AIM: The aim of this study was to examine the value of CrSO2 monitoring in infants with HIE undergoing TH. STUDY DESIGN AND SUBJECTS: In this prospective study, CrSO2 was continuously recorded in 21 infants with HIE admitted for TH...
July 31, 2017: Early Human Development
https://www.readbyqxmd.com/read/28770451/pharmacotherapy-for-seizures-in-neonates-with-hypoxic-ischemic-encephalopathy
#12
REVIEW
Elissa Yozawitz, Arthur Stacey, Ronit M Pressler
Seizures are common in neonates with moderate and severe hypoxic ischemic encephalopathy (HIE) and are associated with worse outcomes, independent of HIE severity. In contrast to adults and older children, no new drugs have been licensed for treatment of neonatal seizures over the last 50 years, because of a lack of controlled clinical trials. Hence, many antiseizure medications licensed in older children and adults are used off-label for neonatal seizure, which is associated with potential risks of adverse effects during a period when the brain is particularly vulnerable...
August 2, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28768552/a-mild-form-of-adenylosuccinate-lyase-deficiency-in-absence-of-typical-brain-mri-features-diagnosed-by-whole-exome-sequencing
#13
Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli
BACKGROUND: Adenylosuccinate lyase (ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The most severe form is characterized by neonatal encephalopathy, absence of spontaneous movement, respiratory failure, intractable seizures, and early death within the first weeks of life...
August 2, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28764944/-incidence-of-hypoxic-ischaemic-encephalopathy-and-use-of-therapeutic-hypothermia-in-spain
#14
Juan Arnaez, Alfredo García-Alix, Gemma Arca, Eva Valverde, Sonia Caserío, M Teresa Moral, Isabel Benavente-Fernández, Simón Lubián-López
INTRODUCTION: There are no data on the incidence of hypoxic-ischaemic encephalopathy (HIE) and the implementation of therapeutic hypothermia (TH) in Spain. METHODS: This is a cross-sectional, national study, performed using an on-line questionnaire targeting level III neonatal care units in Spain. Participants were requested to provide data of all newborns ≥ 35 weeks of gestational age diagnosed with moderate-severe HIE over a two year-period (2012-2013), and of the implementation of TH up to June 2015...
July 29, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28762235/fluid-supplementation-for-neonatal-unconjugated-hyperbilirubinaemia
#15
REVIEW
Nai Ming Lai, Azanna Ahmad Kamar, Yao Mun Choo, Juin Yee Kong, Chin Fang Ngim
BACKGROUND: Neonatal hyperbilirubinaemia is a common problem which carries a risk of neurotoxicity. Certain infants who have hyperbilirubinaemia develop bilirubin encephalopathy and kernicterus which may lead to long-term disability. Phototherapy is currently the mainstay of treatment for neonatal hyperbilirubinaemia. Among the adjunctive measures to compliment the effects of phototherapy, fluid supplementation has been proposed to reduce serum bilirubin levels. The mechanism of action proposed includes direct dilutional effects of intravenous (IV) fluids, or enhancement of peristalsis to reduce enterohepatic circulation by oral fluid supplementation...
August 1, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28757203/biallelic-mutations-in-lipt2-cause-a-mitochondrial-lipoylation-defect-associated-with-severe-neonatal-encephalopathy
#16
Florence Habarou, Yamina Hamel, Tobias B Haack, René G Feichtinger, Elise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole-Feysot, Patrick Nitschke, Nicolas Goudin, Nathalie Boddaert, Ivan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J Rodenburg, G Christoph Korenke, Thomas Meitinger, Tim M Strom, Holger Prokisch, Agnes Rotig, Chris Ottolenghi, Johannes A Mayr, Pascale de Lonlay
Lipoate serves as a cofactor for the glycine cleavage system (GCS) and four 2-oxoacid dehydrogenases functioning in energy metabolism (α-oxoglutarate dehydrogenase [α-KGDHc] and pyruvate dehydrogenase [PDHc]), or amino acid metabolism (branched-chain oxoacid dehydrogenase, 2-oxoadipate dehydrogenase). Mitochondrial lipoate synthesis involves three enzymatic steps catalyzed sequentially by lipoyl(octanoyl) transferase 2 (LIPT2), lipoic acid synthetase (LIAS), and lipoyltransferase 1 (LIPT1). Mutations in LIAS have been associated with nonketotic hyperglycinemia-like early-onset convulsions and encephalopathy combined with a defect in mitochondrial energy metabolism...
August 3, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28756088/protein-s100b-in-umbilical-cord-blood-as-a-potential-biomarker-of-hypoxic-ischemic-encephalopathy-in-asphyxiated-newborns
#17
Mehreen Zaigham, Fredrik Lundberg, Per Olofsson
BACKGROUND: Neonatal hypoxic ischemic encephalopathy (HIE) is a devastating condition resulting from a sustained lack of oxygen during birth. The interest in identifying a relevant biomarker of HIE has thrown into limelight the role of protein S100B as a clinical diagnostic marker of hypoxic brain damage in neonates. AIMS: To evaluate the diagnostic value of protein S100B, measured in umbilical cord blood immediately after birth, as a useful biomarker in the diagnosis of HIE Sarnat stages II-III as well as a marker for long-term mortality and morbidity...
September 2017: Early Human Development
https://www.readbyqxmd.com/read/28754279/-g6pd-deficiency-in-females-with-neonatal-revelation-report-of-four-cases
#18
A Renault, D Mitanchez, A Cortey
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human erythrocyte enzyme defect, estimated to affect approximately 4 million people worldwide. It is associated with severe neonatal hyperbilirubinemia, which may lead to bilirubin encephalopathy and kernicterus, and with hemolytic crisis. G6PD deficiency is an X-linked enzymopathy affecting hemizygous males, homozygous females, and also a subset of heterozygous females via chromosome X inactivation. We report four cases of female newborns with neonatal hyperbilirubinemia related to a G6PD deficiency and followed by the Centre national de référence en hémobiologie périnatale (CNRHP) from November 2013 to July 2014...
July 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28753547/clarification-of-the-methods-and-statistics-in-the-study-planned-home-birth-and-the-association-with-neonatal-hypoxic-ischemic-encephalopathy
#19
Shane W Wasden, Stephen T Chasen, Jeffrey M Perlman, Jessica L Illuzzi, Frank A Chervenak, Amos Grunebaum, Heather S Lipkind
No abstract text is available yet for this article.
July 28, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28752061/lethal-neonatal-rigidity-and-multifocal-seizure-syndrome-with-a-new-mutation-in-brat1
#20
Yalcin Celik, Cetin Okuyaz, Ali Ertug Arslankoylu, Serdar Ceylaner
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (RMFSL) (OMIM# 614498) is a rare and recently characterized epileptic encephalopathy that is related to variants in the BRAT1 gene (Breast Cancer 1-associated ataxia telangiectasia mutated activation-1 protein). In this report, an RMFSL case, who died in the 10th month of the life, with rigidity, drug-resistant myoclonic seizures in the face and extremities, with, significant motor delays is presented. The exon sequence was determined and a new homozygous variant (C...
2017: Epilepsy & Behavior Case Reports
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