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Neonatal encephalopathy

Marta Spodenkiewicz, Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle-Britschgi, Johannes Häberle
Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body. Glutamine is a major substrate for various metabolic pathways, and is thus an important factor for the functioning of many organs; therefore, deficiency of glutamine due to a defect in GS is incompatible with normal life. Mutations in the human GLUL gene (encoding for GS) can cause an ultra-rare recessive inborn error of metabolism-congenital glutamine synthetase deficiency. This disease was reported until now in only three unrelated patients, all of whom suffered from neonatal onset severe epileptic encephalopathy...
October 19, 2016: Biology
N Vicente, M Pérez, R Gander, A Segarra, C Leganés, J Bueno
AIM: Congenital portosistemic shunt (CPSS) is an uncommon condition that can cause serious complications such as encephalopathy and liver tumors at risk of malignant degeneration. Occlusion of the shunt by surgery or interventional radiology can prevent and even improve such complications. In some cases, liver transplantation is the only curative option. We describe our experience with this condition. PATIENTS AND METHODS: Between 1992 and 2013, eight children (four male and four female) were diagnosed with CPSS (four extrahepatic and four intrahepatic) in our center, of which seven were diagnosed after 2007...
January 15, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
S Lühl, H Bode, W Schlötzer, M Bartsakoulia, R Horvath, A Abicht, M Stenzel, J Kirschner, S C Grünert
BACKGROUND: Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein translation. A total of 27 patients from 14 families have been reported so far. Characteristic clinical features comprise neonatal lactic acidosis, severe encephalopathy, intractable seizures, feeding problems and profound developmental delay. Most patients show typical neuroradiologic abnormalities including cerebellar hypoplasia and progressive pontocerebellar atrophy...
October 21, 2016: Orphanet Journal of Rare Diseases
Lucille Arragain, Myrielle Dupont-Rouzeyrol, Olivia O'Connor, Nathalie Sigur, Jean-Paul Grangeon, Emilie Huguon, Clothilde Dechanet, Cécile Cazorla, Ann-Claire Gourinat, Elodie Descloux
: We investigated 10 mother-newborn pairs and found a 90% rate of dengue virus (DENV) transmission during the perinatal period. Here, we describe DENV kinetics in the sera of newborns before the onset of disease. Of the breast-milk samples analyzed, 75% tested positive for DENV. BACKGROUND: Dengue is the most common mosquito-borne viral disease in humans. With this study, we aimed to investigate the risk of vertical (DENV) transmission during the peripartum period and to describe its viral kinetics in serum and breast milk...
October 19, 2016: Journal of the Pediatric Infectious Diseases Society
Håvard Tetlie Garberg, Marianne U Huun, Lars O Baumbusch, Monica Åsegg-Atneosen, Rønnaug Solberg, Ola Didrik Saugstad
BACKGROUND: There is a lack of reliable biomarkers that can identify and grade acute hypoxic-ischemic encephalopathy in newborns. MicroRNAs (miRNA) are short, non-coding strands of RNA that are released into the circulation in response to tissue stress and injury. Some miRNAs are highly tissue specific and thus may potentially be non-invasive biomarkers of neonatal hypoxic-ischemic brain injury. OBJECTIVE: The aim of this study was to characterize the temporal expression of selected circulating miRNAs in a clinically relevant piglet model of neonatal hypoxia-ischemia (HI)...
October 18, 2016: Neonatology
Naser Amini, Nasim Vousooghi, Mansoureh Soleimani, Ali Samadikuchaksaraei, Mehdi Akbari, Hosein Safakheil, Pezhman Atafimanesh, Ali Shahbazi, Peiman Brouki Milan, Sara Ramezani, Masoud Mozafari, Mohammad Taghi Joghataei
INTRODUCTION: Hemolytic kernicterus, an indirect bilirubin-induced brain dysfunction, is associated with hyper-bilirubinemia in mammalian neonates. In this study, a new model of kernicterus has been developed using intra-peritoneal injections of phenyl hydrazine and subcutaneous injections of sulfisoxazole. These drugs can potentially induce kernicterus in neonatal through changes in hemolysis and hypo-albumin. METHODS: For this purpose, 7-day-old male Wistar rats (n=72; mean weight 11±1 g) were used...
October 13, 2016: Journal of Pharmacological and Toxicological Methods
Quratulane Gillani, Muhammad Ali, Furhan Iqbal
Interleukin (IL) 6 and 18 plays an important role in inflammatory response following hypoxia ischemia encephalopathy (HIE). Present study was designed to demonstrate the effect of two GABAB receptor antagonists (CGP 35348 and 55845), respectively, on the serum IL6 and IL 18 concentrations in albino mice. Albino mice pups (of both genders) were subjected to Murine model of hypoxia-ischemia encephalopathy on postnatal day 10 (right common carotid artery was ligated followed by 8% hypoxia for 25 minutes). After neonatal brain damage and following weaning, mice were divided in three groups, in gender specific manner, and fed on normal rodent diet till they were 13 week old...
September 2016: Pakistan Journal of Pharmaceutical Sciences
Mohamed A Hendaus, Fatima A Jomha, Ahmed H Alhammadi
Perinatal hypoxic-ischemic encephalopathy (HIE) affects one to three per 1,000 live full-term births and can lead to severe and permanent neuropsychological sequelae, such as cerebral palsy, epilepsy, mental retardation, and visual motor or visual perceptive dysfunction. Melatonin has begun to be contemplated as a good choice in order to diminish the neurological sequelae from hypoxic-ischemic brain injury. Melatonin emerges as a very interesting medication, because of its capacity to cross all physiological barriers extending to subcellular compartments and its safety and effectiveness...
2016: Neuropsychiatric Disease and Treatment
E R Allanson, T Waqar, Crh White, Ö Tunçalp, J E Dickinson
BACKGROUND: Umbilical cord lactate is one approach to measuring acidosis and intrapartum hypoxia, knowledge of which may be helpful for clinicians involved in the care of women and newborns. OBJECTIVE: To synthesise the evidence on accuracy of umbilical cord lactate in measuring acidosis and predicting poor neonatal outcome. SEARCH STRATEGY: Studies published and unpublished between 1990 and 2014 from PubMed/Medline, EMBASE, Cochrane Central Register of Controlled Trials, and clinicaltrials...
October 5, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Sudhir Adhikari, Kalipatnam Seshagiri Rao
BACKGROUND: Perinatal asphyxia with hypoxic ischemic encephalopathy (HIE) causes significant mortality and morbidity in developing countries. There is limited information about long term neurodevelopmental outcome of infants with neonatal encephalopathy. METHODS: Term infants with the diagnosis of perinatal asphyxia were followed up in neurodevelopmental clinics of Manipal Teaching hospital, Nepal. Study design was prospective mixed longitudinal study. Prematurity, major congenital malformations, other intracranial pathology, birth weight <2500g and chromosomal abnormalities were excluded...
September 30, 2016: Brain & Development
Eiji Hirakawa, Satoshi Ibara, Takuya Tokuhisa, Yoshinobu Maede, Takako Kuwahara, Chie Ishihara, Hiroyuki Noguchi, Yoshiki Naitou, Masakatsu Yamamoto, Masaya Kibe, Tsuyoshi Yamamoto, Tomonori Kurimoto, Masato Kamitomo, Kazutoshi Cho, Hisanori Minakami
BACKGROUND: There have been few reports regarding outcomes after extracorporeal membrane oxygenation (ECMO) in newborn Japanese infants. METHODS: A review of 61 neonates with ECMO through January 1995 at a single center was performed. ECMO was used in neonates with oxygenation index > 20 after conventional treatments. Background factors, such as etiology, vascular access mode (veno-venous [VV] or veno-arterial [VA]), number of days with ECMO, and early ECMO (within 24 hours after birth), were analyzed in relation to outcome with respect to survival to hospital discharge (SHD)...
October 3, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Yilmaz Yildiz, Emine Pektas, Aysegul Tokatli, Goknur Haliloglu
Hereditary dopamine transporter deficiency syndrome (DTDS) is a neurotransmitter disorder caused by a defect in the neuronal uptake of dopamine. To date, 20 patients are reported in the literature, and we present 2 additional patients with DTDS harboring novel homozygous SLC6A3 gene mutations. Patient A is an 8-month-old male with neonatal-onset hypotonia, who developed orolingual dyskinetic movements and oculogyric crises after 4 months of age, with evolution to status dystonicus episodes. Patient B is a 4-year-old male who also had hypotonia since birth, with additional severe limb contractions and oculogyric crises after the age of 3 months, with a misdiagnosis of epileptic encephalopathy...
September 30, 2016: Neuropediatrics
Li-Xia Zhou, Su-Zhen Dong, Ming-Feng Zhang
PURPOSE: To present three fetal vein of Galen aneurysmal malformations (VGAMs), which were diagnosed through magnetic resonance imaging (MRI), and highlight these cardiovascular findings. MATERIALS AND METHODS: We retrospectively reviewed three fetuses with VGAM at 31, 32, and 33 weeks of gestation. Feeding arteries and draining veins were observed by MRI. Secondary changes in the brain and high-output heart failure caused by high blood flow in the lesion were evaluated...
September 30, 2016: Journal of Magnetic Resonance Imaging: JMRI
L Reaney, V Livingstone, C Bogue, E M Dempsey, P M Filan
Therapeutic hypothermia is now the standard of care for infants with moderate to severe hypoxic ischaemic encephalopathy. Sixty-three infants received therapeutic hypothermia at Cork University Maternity Hospital (CUMH) from 2010-2014. Median gestational age was 40 weeks. Eighteen (29%) infants were Sarnat grade 3, 41(65%) grade 2 and 4(6%) grade 1. Nineteen outborn infants arrived in CUMH at a median (IQR) age of 310 (270, 420) minutes. Four (21%) outborn infants were within the target temperature range on arrival...
2016: Irish Medical Journal
Brandon J Dixon, Di Chen, Yang Zhang, Jerry Flores, Jay Malaguit, Derek Nowrangi, John H Zhang, Jiping Tang
Neonatal hypoxic-ischemic encephalopathy (HIE) is an injury that often leads to detrimental neurological deficits. Currently, there are no established therapies for HIE and it is critical to develop treatments that provide protection after HIE. The objective of this study was to investigate the ability of interferon beta (IFNβ) to provide neuroprotection and reduce apoptosis after HIE. Postnatal Day 10 rat pups were subjected to unilateral carotid artery ligation followed by 2.5 hr of exposure to hypoxia (8% O2)...
October 2016: ASN Neuro
Ellie Wernham, Jason Gurney, James Stanley, Lis Ellison-Loschmann, Diana Sarfati
BACKGROUND: Internationally, a typical model of maternity care is a medically led system with varying levels of midwifery input. New Zealand has a midwife-led model of care, and there are movements in other countries to adopt such a system. There is a paucity of systemic evaluation that formally investigates safety-related outcomes in relationship to midwife-led care within an entire maternity service. The main objective of this study was to compare major adverse perinatal outcomes between midwife-led and medical-led maternity care in New Zealand...
September 2016: PLoS Medicine
Tiffany D Stafford, Joseph L Hagan, Curtis G Sitler, Caraciolo J Fernandes, Jeffrey R Kaiser
Perinatal hypoxic ischemic encephalopathy (HIE) can lead to severe neurodevelopmental outcome and death. Therapeutic hypothermia is neuroprotective for infants with moderate-to-severe HIE. However, therapeutic hypothermia is only offered at high-level regional neonatal intensive care units (NICUs), necessitating the need to transport sick infants to referral centers. The goal of this study was to evaluate whether active cooling on transport is more effective than passive cooling in achieving temperatures in the treatment target range (33°C-34°C) on arrival to the Texas Children's Hospital (TCH) NICU...
September 27, 2016: Therapeutic Hypothermia and Temperature Management
Floris Groenendaal, Linda S de Vries
In the past brain imaging of term infants with HIE was performed with cranial ultrasound (cUS) and computed tomography (CT). Both techniques have several disadvantages, sensitivity and specificity are limited compared to MRI, and CT makes use of radiation.At present MRI including diffusion weighted MRI during the first week of life, has become the method of choice for imaging infants with HIE. In addition to imaging, blood vessels and blood flow can be visualized using MR angiography, MR venography, and arterial spin labeling...
September 27, 2016: Pediatric Research
Fangfang Yan, Chao Jiang, Yan Meng, Huijuan Li, Lie Yu, Xiaojie Fu, Youcai Tang, Meimei Zhang
Erythropoietin (EPO) is important for angiogenesis after hypoxia/ischemia. In this study, we investigated whether recombinant human erythropoietin (rhEPO) can enhance angiogenesis, and promote cognitive function through vascular endothelial growth factor (VEGF)/VEGF receptor 2 (VEGFR2) signaling pathway in a rat model of hypoxic-ischemic encephalopathy (HIE). RhEPO, selective VEGFR2 inhibitor (SU5416) or vehicle was administrated by intraperitoneal injection. The assessment for cognitive function begins on day 60 after anoxia...
September 19, 2016: Brain Research
Monera Mm Mohammed, Sirageldin Mk Abdel Rahman
Hyperglycaemia has become a significant risk factor for morbidity and mortality of the smaller fragile infants surviving the neonatal period. Its risk is inversely related to gestational age, birth weight and baby's clinical condition. The aim of this study was to determine the frequency, some clinical aspects and immediate outcome of hyperglycaemia in neonates admitted to the neonatal intensive care unit (NICU) at Gaafar Ibnauf Children's Hospital, Khartoum. The study was a prospective, descriptive and hospital-based, conducted during the period of 1st January to 31st December 2014...
2016: Sudan J Paediatr
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