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Neonatal encephalopathy

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https://www.readbyqxmd.com/read/29242417/phase-changing-material-for-therapeutic-hypothermia-in-neonates-with-hypoxic-ischemic-encephalopathy-a-multi-centric-study
#1
Niranjan Thomas, Thangaraj Abiramalatha, Vishnu Bhat, Manoj Varanattu, Suman Rao, Sanjay Wazir, Leslie Lewis, Umamaheswari Balakrishnan, Srinivas Murki, Jaikrishnan Mittal, Ashish Dongara, Y N Prashantha, Somashekhar Nimbalkar
OBJECTIVE: To assess the feasibility and safety of cooling asphyxiated neonates using phase changing material based device across different neonatal intensive care units in India. DESIGN: Multi-centric uncontrolled clinical trial. SETTING: 11 level 3 neonatal units in India from November 2014 to December 2015. PARTICIPANTS: 103 newborn infants with perinatal asphyxia, satisfying pre-defined criteria for therapeutic hypothermia...
December 14, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29239743/phenotypic-and-molecular-spectrum-of-aicardi-gouti%C3%A3-res-syndrome-a-study-of-24-patients
#2
Fuad Al Mutairi, Majid Alfadhel, Marwan Nashabat, Ayman W El-Hattab, Tawfeg Ben-Omran, Jozef Hertecant, Wafaa Eyaid, Rehab Ali, Ali Alasmari, Majdi Kara, Waleed Al-Twaijri, Rana Filimban, Abduljabbar Alshenqiti, Mohammed Al-Owain, Eissa Faqeih, Fowzan S Alkuraya
BACKGROUND: Aicardi-Goutières syndrome is a rare genetic neurological disorder with variable clinical manifestations. Molecular detection of specific mutations is required to confirm the diagnosis. The aim of this retrospective study was to review the clinical and molecular diagnostic findings in 24 cases of Aicardi-Goutières syndrome presenting in childhood in the Arab population. MATERIALS AND METHODS: We reviewed the records of 24 patients from six tertiary hospitals in different Arab countries...
October 5, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29237520/-patterns-of-brain-injury-in-neonatal-hypoxic-ischemic-encephalopathy-on-magnetic-resonance-imaging-recommendations-on-classification
#3
Jian Mao
Although there are unified criteria for the clinical diagnosis and grading of neonatal hypoxic-ischemic encephalopathy (HIE), clinical features and neuropathological patterns vary considerably among the neonates with HIE due to birth asphyxia in the same classification. The patterns and progression of brain injury in HIE, which is closely associated with long-term neurodevelopment outcomes, can be well shown on magnetic resonance imaging (MRI), but different sequences may lead to different MRI findings at the same time...
December 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29237403/isolated-and-repeated-stroke-like-episodes-in-a-middle-aged-man-with-a-mitochondrial-nd3-t10158c-mutation-a-case-report
#4
Satomi Mezuki, Kenji Fukuda, Tomonaga Matsushita, Yoshihisa Fukushima, Ryu Matsuo, Yu-Ichi Goto, Takehiro Yasukawa, Takeshi Uchiumi, Dongchon Kang, Takanari Kitazono, Tetsuro Ago
BACKGROUND: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS. CASE PRESENTATION: A 55-year-old man, who had no family or past history of mitochondrial disorders, suddenly developed bilateral visual field constriction and repeated stroke-like episodes...
December 13, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29228911/intrapartum-factors-associated-with-neonatal-hypoxic-ischemic-encephalopathy-a-case-controlled-study
#5
Vanessa E Torbenson, Mary Catherine Tolcher, Kate M Nesbitt, Christopher E Colby, Sherif A El-Nashar, Bobbie S Gostout, Amy L Weaver, Michaela E Mc Gree, Abimbola O Famuyide
BACKGROUND: Neonatal encephalopathy (NE) affects 2-4/1000 live births with outcomes ranging from negligible neurological deficits to severe neuromuscular dysfunction, cerebral palsy and death. Hypoxic ischemic encephalopathy (HIE) is the sub cohort of NE that appears to be driven by intrapartum events. Our objective was to identify antepartum and intrapartum factors associated with the development of neonatal HIE. METHODS: Hospital databases were searched using relevant diagnosis codes to identify infants with neonatal encephalopathy...
December 11, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29226520/a-novel-homozygous-slc25a1-mutation-with-impaired-mitochondrial-complex-v-possible-phenotypic-expansion
#6
Idan Cohen, Orna Staretz-Chacham, Ohad Wormser, Yonatan Perez, Ann Saada, Rotem Kadir, Ohad S Birk
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29222087/dose-dependent-relationship-between-acidosis-at-birth-and-likelihood-of-death-or-cerebral-palsy
#7
Rod Kelly, S M Ramaiah, Helen Sheridan, Hilary Cruickshank, Magda Rudnicka, Chris Kissack, Julie-Clare Becher, Ben J Stenson
BACKGROUND: The acid-base status of infants around birth can provide information about their past, current and future condition. Although umbilical cord blood pH <7.0 or base deficit ≥12 mmol/L is associated with increased risk of adverse outcome, there is uncertainty about the prognostic value of degree of acidosis as previous studies have used different variables, thresholds, outcomes and populations. METHODS: Retrospective review of routinely collected clinical data in all live-born inborn infants of 35 weeks gestation or more delivered between January 2005 and December 2013 at the Simpson Centre for Reproductive Health, Edinburgh, UK...
December 8, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29220856/prevalence-and-characteristics-of-intracranial-hemorrhages-in-neonates-with-hypoxic-ischemic-encephalopathy
#8
Rani A Bashir, Sakeer Vayalthrikkovil, Liza Espinoza, Leigh Irvine, James Scott, Khorshid Mohammad
No abstract text is available yet for this article.
December 8, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/29217807/therapeutic-hypothermia-for-neonatal-encephalopathy-in-indian-neonatal-units-a-survey-of-national-practices
#9
Manigandan Chandrasekaran, Ravi Swamy, Siddarth Ramji, Seetha Shankaran, Sudhin Thayyil
This cross-sectional web-based survey suggests that cooling therapy is offered as standard of care for babies with neonatal encephalopathy in 10/25 (40%) of public and 37/68 (51%) of private level 2 or 3 neonatal units in India. 25 (53%) used locally improvised cooling methods, and the cooling practices differed from established protocols in high-income countries.
November 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29213143/lactate-as-an-early-predictor-of-psychomotor-development-in-neonates-with-asphyxia-receiving-therapeutic-hypothermia
#10
Renata Polackova, Dana Salounova, Lumir Kantor
AIMS: This prospective study aimed to evaluate the relationship between persistently elevated lactate values in the arterial blood of newborns with grade II and III hypoxic ischemic encephalopathy (treated with therapeutic hypothermia) and psychomotor development at 24 months. METHODS: 51 neonates of gestational age from 36 to 41 weeks receiving therapeutic hypothermia for moderate to severe hypoxic ischaemic encephalopathy had arterial blood lactate levels regularly analysed...
December 4, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#11
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29196306/perinatal-infratentorial-haemorrhage-a-rare-but-possibly-life-threatening-condition
#12
Bettina Cornelia Henzi, Bendicht Wagner, Rajeev Kumar Verma, Sandra Bigi
BACKGROUND: Perinatal infratentorial haemorrhage (PIH) is a rare birth complication associated with abnormal labour. CASE PRESENTATION: A baby boy was born by vacuum extraction at 41 weeks' gestational age. The pregnancy was uneventful and Apgar scores were 3/6/9. Following initial resuscitation, insufficient and irregular breathing, non-reactive pupils and absence of spontaneous movements were noted. A diagnosis of perinatal asphyxia with hypoxic-ischaemic encephalopathy (HIE) was considered...
December 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29193647/the-incidence-characteristics-managements-and-outcomes-of-anaphylaxis-in-pregnancy-a-population-based-descriptive-study
#13
Stephen J McCall, Kathryn J Bunch, Peter Brocklehurst, Rhiannon D'Arcy, Kim Hinshaw, Jennifer J Kurinczuk, D Nuala Lucas, Benjamin Stenson, Derek Tuffnell, Marian Knight
OBJECTIVE: The aim of this study was to estimate the incidence of anaphylaxis in pregnancy and describe the management and outcomes in the UK. DESIGN: A population based descriptive study using the UK Obstetric Surveillance System(UKOSS). SETTING: All consultant-led maternity units in the UK. POPULATION: All pregnant women who had anaphylaxis between 1st October 2012 and 30th September 2015. Anaphylaxis was defined as a severe, life-threatening generalised or systemic hypersensitivity reaction...
November 29, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29191246/munc18-1-gene-abnormalities-are-involved-in-neurodevelopmental-disorders-through-defective-cortical-architecture-during-brain-development
#14
Nanako Hamada, Ikuko Iwamoto, Hidenori Tabata, Koh-Ichi Nagata
While Munc18-1 interacts with Syntaxin1 and controls the formation of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNARE) complex to regulate presynaptic vesicle fusion in developed neurons, this molecule is likely to be involved in brain development since its gene abnormalities cause early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome), neonatal epileptic encephalopathy and other neurodevelopmental disorders. We thus analyzed physiological significance of Munc18-1 during cortical development...
November 30, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29180541/neonatal-brain-injuries-in-england-population-based-incidence-derived-from-routinely-recorded-clinical-data-held-in-the-national-neonatal-research-database
#15
Chris Gale, Yevgeniy Statnikov, Sena Jawad, Sabita N Uthaya, Neena Modi
OBJECTIVE: In 2015, the Department of Health in England announced an ambition to reduce 'brain injuries occurring during or soon after birth'. We describe the development of a pragmatic case definition and present annual incidence rates. DESIGN: Retrospective cohort study using data held in the National Neonatal Research Database (NNRD) extracted from neonatal electronic patient records from all National Health Service (NHS) neonatal units in England, Wales and Scotland...
October 22, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29178051/behavior-disorders-caused-by-perinatal-hypoxia-in-juvenile-rats-and-their-correction-with-gaba-derivative
#16
N E Ordyan, V K Akulova, V I Mironova, V A Otellin
We studied the effects of acute normobaric hypoxia on postnatal day 2 (model of preterm pregnancy) on reflex activity and behavior of juvenile male Wistar rats and the possibility of correction of behavioral deficit by administration of GABA derivative Salifen after hypoxia. It is shown, that perinatal hypoxia impaired righting reflex and forelimb grip strength and increased motor activity in juvenile male rats. Administration of Salifen for 14 days in a dose of 15 mg/kg improved reflex activity and behavior of rats, which indicates the prospect of further study of the therapeutic efficacy of this drug on models of neonatal encephalopathy...
November 25, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29176138/clinical-manifestations-and-amplitude-integrated-encephalogram-in-neonates-with-early-onset-epileptic-encephalopathy
#17
Li-Li Liu, Xin-Lin Hou, Dan-Dan Zhang, Guo-Yu Sun, Cong-Le Zhou, Yi Jiang, Ze-Zhong Tang, Rui Zhang, Yun Cui
BACKGROUND: The patients with early-onset epileptic encephalopathy (EOEE) suffer from neurodevelopmental delay. The aim of this study was to analyze the clinical manifestations and amplitude-integrated encephalogram (aEEG) characteristics of infants with EOEE with onset within the neonatal period, to make early diagnosis to improve the prognosis. METHODS: One-hundred and twenty-eight patients with neonatal seizure were enrolled and followed up till 1 year old. Sixty-six neonates evolved into EOEE were as the EOEE group, the other 62 were as the non-EOEE (nEOEE) group...
December 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29172116/bilateral-loss-of-cortical-seps-predict-severe-mri-lesions-in-neonatal-hypoxic-ischemic-encephalopathy-treated-with-hypothermia
#18
Agnese Suppiej, Ambra Cappellari, Giacomo Talenti, Elisa Cainelli, Matteo Di Capua, Augusta Janes, Daniela Longo, Rodica Mardari, Cristina Marinaccio, Stefano Pro, Paola Sciortino, Daniele Trevisanuto, Roberta Vittorini, Renzo Manara
OBJECTIVE: The introduction of therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy calls for reevaluation of the prognostic role of somatosensory evoked potentials (SEPs). METHODS: Among 80 consecutive neonates undergoing hypothermia for hypoxic-ischemic encephalopathy, 58 performed SEPs and MRI at 4-14 days of life and were recruited in this multicenter study. SEPs were scored as: 0 (bilaterally/unilaterally recorded N20) or 1 (bilaterally absent N20)...
November 6, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29171918/asphyxiated-neonates-who-received-active-therapeutic-hypothermia-during-transport-had-higher-rates-of-hypocapnia-than-controls
#19
Eniko Szakmar, Kata Kovacs, Unoke Meder, Geza Bokodi, Andras Szell, Zsolt Somogyvari, Attila J Szabo, Miklos Szabo, Agnes Jermendy
AIM: We investigated the association between active hypothermia and hypocapnia in neonates with moderate to severe hypoxic-ischaemic encephalopathy (HIE) transported after birth. METHODS: This was a retrospective cohort study of neonates with HIE born between 2007-2011 and transported to Semmelweis University, Hungary, for hypothermia treatment before and after we introduced active cooling during transport in 2009. Of these, 71 received intensive care plus controlled active hypothermia during transport, while the 46 controls just received standard intensive care...
November 24, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29171431/effect-of-erythropoietin-combined-with-hypothermia-on-serum-tau-protein-levels-and-neurodevelopmental-outcome-in-neonates-with-hypoxic-ischemic-encephalopathy
#20
Hong-Yan Lv, Su-Jing Wu, Qiu-Li Wang, Li-Hong Yang, Peng-Shun Ren, Bao-Jun Qiao, Zhi-Ying Wang, Jia-Hong Li, Xiu-Ling Gu, Lian-Xiang Li
Although hypothermia therapy is effective to treat neonatal hypoxic-ischemic encephalopathy, many neonatal patients die or suffer from severe neurological dysfunction. Erythropoietin is considered one of the most promising neuroprotective agents. We hypothesized that erythropoietin combined with hypothermia will improve efficacy of neonatal hypoxic-ischemic encephalopathy treatment. In this study, 41 neonates with moderate/severe hypoxic-ischemic encephalopathy were randomly divided into a control group (hypothermia alone for 72 hours, n = 20) and erythropoietin group (hypothermia + erythropoietin 200 IU/kg for 10 days, n = 21)...
October 2017: Neural Regeneration Research
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