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Neonatal encephalopathy

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https://www.readbyqxmd.com/read/27926647/central-fetal-monitoring-with-and-without-computer-analysis-a-randomized-controlled-trial
#1
Inês Nunes, Diogo Ayres-de-Campos, Austin Ugwumadu, Pina Amin, Philip Banfield, Antony Nicoll, Simon Cunningham, Paulo Sousa, Cristina Costa-Santos, João Bernardes
OBJECTIVE: To evaluate whether intrapartum fetal monitoring with computer analysis and real-time alerts decreases the rate of newborn metabolic acidosis or obstetric intervention when compared with visual analysis. METHODS: A randomized clinical trial carried out in five hospitals in the United Kingdom evaluated women with singleton, vertex fetuses of 36 weeks of gestation or greater during labor. Continuous central fetal monitoring by computer analysis and online alerts (experimental arm) was compared with visual analysis (control arm)...
December 2, 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#2
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27920985/the-first-case-of-recurrent-ultra-late-onset-group-b-streptococcal-sepsis-in-a-3-year-old-child
#3
Ai Hosoda, Ryohei Gatayama, Shiori Moriyama, Noriyuki Ishii, Kenichiro Yamada, Youhei Matsuzaki, Masayoshi Shinjoh
Group B streptococcus (GBS) is a commonly recognized cause of sepsis and meningitis in neonatal and young infants. Invasive GBS infection is classified into early onset GBS disease (EOD, day 0-6), late onset GBS disease (LOD, day 7-89) and ultra late onset GBS disease (ULOD, after 3 months of age). ULOD is uncommon and recurrence is especially rare. We present the first recurrent case of ULOD GBS sepsis in 3-year-old girl with a past medical history of hydrops fetalis and thoracic congenital lymphatic dysplasia...
2017: IDCases
https://www.readbyqxmd.com/read/27920148/epilepsy-associated-kcnq2-channels-regulate-multiple-intrinsic-properties-of-layer-2-3-pyramidal-neurons
#4
Zachary Niday, Virginia E Hawkins, Heun Soh, Daniel K Mulkey, Anastasios V Tzingounis
: KCNQ2 potassium channels are critical for normal brain function, as both loss- and gain-of-function KCNQ2 variants can lead to various forms of neonatal epilepsy. Despite recent progress, the full spectrum of consequences as a result of KCNQ2 dysfunction in neocortical pyramidal neurons is still unknown. Here, we report that conditional ablation of Kcnq2 from mouse neocortex leads to hyperexcitability of layer 2/3 (L2/3) pyramidal neurons, exhibiting an increased input resistance and action potential frequency, as well as a reduced medium afterhyperpolarization (mAHP), a conductance partly mediated by KCNQ2 channels...
December 5, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27913086/punctate-white-matter-lesions-in-full-term-infants-with-neonatal-seizures-associated-with-slc13a5-mutations
#5
Lauren C Weeke, Eva Brilstra, Kees P Braun, Evelien Zonneveld-Huijssoon, Gajja S Salomons, Bobby P Koeleman, Koen L van Gassen, Henrica L van Straaten, Dana Craiu, Linda S de Vries
INTRODUCTION: Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients. METHODS: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene. Seven infants had an MRI in the neonatal period, two had a follow-up MRI at the age of 6 and 18 months and one only at 13 months...
November 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27905971/trends-causes-and-risk-factors-of-mortality-among-children-under-5-in-ethiopia-1990-2013-findings-from-the-global-burden-of-disease-study-2013
#6
Amare Deribew, Gizachew Assefa Tessema, Kebede Deribe, Yohannes Adama Melaku, Yihunie Lakew, Azmeraw T Amare, Semaw F Abera, Mesoud Mohammed, Abiy Hiruye, Efrem Teklay, Awoke Misganaw, Nicholas Kassebaum
BACKGROUND: Ethiopia has made remarkable progress in reducing child mortality over the last two decades. However, the under-5 mortality rate in Ethiopia is still higher than the under-5 mortality rates of several low- and middle-income countries (LMIC). On the other hand, the patterns and causes of child mortality have not been well investigated in Ethiopia. The objective of this study was to investigate the mortality trend, causes of death, and risk factors among children under 5 in Ethiopia during 1990-2013...
November 14, 2016: Population Health Metrics
https://www.readbyqxmd.com/read/27905566/early-onset-epileptic-encephalopathy-caused-by-a-reduced-sensitivity-of-kv7-2-potassium-channels-to-phosphatidylinositol-4-5-bisphosphate
#7
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michela De Maria, Edoardo Moretto, Francesco Miceli, Alessandro Alaimo, Nunzio Iraci, Laura Manocchio, Alessandro Medoro, Maria Passafaro, Maurizio Taglialatela
Kv7.2 and Kv7.3 subunits underlie the M-current, a neuronal K(+) current characterized by an absolute functional requirement for phosphatidylinositol 4,5-bisphosphate (PIP2). Kv7.2 gene mutations cause early-onset neonatal seizures with heterogeneous clinical outcomes, ranging from self-limiting benign familial neonatal seizures to severe early-onset epileptic encephalopathy (Kv7.2-EE). In this study, the biochemical and functional consequences prompted by a recurrent variant (R325G) found independently in four individuals with severe forms of neonatal-onset EE have been investigated...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27902983/perinatal-asphyxia-and-erythropoietin-and-vegf-serial-serum-and-cerebrospinal-fluid-responses
#8
Deirdre U Sweetman, Chike Onwuneme, William R Watson, John F A Murphy, Eleanor J Molloy
BACKGROUND: Infants with neonatal encephalopathy (NE) of hypoxic-ischaemic origin are at risk of oxidative and ischaemia-reperfusion injury, which may induce abnormal inflammatory responses involving excessive cytokine production and release in serum and cerebrospinal fluid (CSF). Systemic inflammation is found in infants with NE, and we therefore were interested in cytokines associated with hypoxia, including vascular endothelial growth factor (VEGF) and erythropoietin (Epo). OBJECTIVE: To investigate the relationship between Epo, VEGF levels, brain injury and outcome in a group of term infants exposed to perinatal asphyxia (PA) compared to controls...
December 1, 2016: Neonatology
https://www.readbyqxmd.com/read/27895948/pediatric-balint-s-syndrome-variant-a-possible-diagnosis-in-children
#9
Swetha Sara Philip, Sunithi Elizabeth Mani, Gordon N Dutton
Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor substrate) often associated with homonymous lower visual field loss. We, here, describe five children (four males, one female; mean age 7...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27891065/trends-causes-and-risk-factors-of-mortality-among-children-under-5-in-ethiopia-1990-2013-findings-from-the-global-burden-of-disease-study-2013
#10
Amare Deribew, Gizachew Assefa Tessema, Kebede Deribe, Yohannes Adama Melaku, Yihunie Lakew, Azmeraw T Amare, Semaw F Abera, Mesoud Mohammed, Abiy Hiruye, Efrem Teklay, Awoke Misganaw, Nicholas Kassebaum
BACKGROUND: Ethiopia has made remarkable progress in reducing child mortality over the last two decades. However, the under-5 mortality rate in Ethiopia is still higher than the under-5 mortality rates of several low- and middle-income countries (LMIC). On the other hand, the patterns and causes of child mortality have not been well investigated in Ethiopia. The objective of this study was to investigate the mortality trend, causes of death, and risk factors among children under 5 in Ethiopia during 1990-2013...
2016: Population Health Metrics
https://www.readbyqxmd.com/read/27889713/prognostic-value-of-resistive-index-in-neonates-with-hypoxic-ischemic
#11
A Senthil Kumar, Aparna Chandrasekaran, Rajamannar Asokan, Kathirvelu Gopinathan
OBJECTIVE: To evaluate the role of Resistive Index measured by cranial doppler ultrasonography in predicting the risk of death/ abnormal neurodevelopmental outcomes in term neonates with hypoxic ischemic encephalopathy. METHODS: We enrolled 50 term asphyxiated neonates with hypoxic ischemic encephalopathy and measured resistive index within 72 hours from the anterior cerebral artery. Participants underwent tone and developmental assessment at 6-12 months. RESULTS: Among the 50 neonates, 25 (50%) had abnormal resistive index (<0...
November 5, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27885286/immediate-outcome-of-hypoxic-ischaemic-encephalopathy-in-hypoxiate-newborns-in-nepal-medical-college
#12
S Shrestha, G S Shrestha, A Sharma
BACKGROUND: Birth asphyxia is the fifth major cause of under-five child deaths after pneumonia, diarrhoea, neonatal infections and complications of preterm birth. It is one of the important causes of neonatal mortality and morbidity accounting up to 30% of neonatal death in Nepal. It is also an important cause of long-term neurological disability and impairment. The mortality rate due to birth asphyxia is considered a good guide to the quality of perinatal care. This study was conducted to assess the rate of birth asphyxia, risk factors and outcome of the babies who were asphyxiated at birth...
May 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/27882082/early-identification-of-hypoxic-ischemic-encephalopathy-by-combination-of-magnetic-resonance-mr-imaging-and-proton-mr-spectroscopy
#13
Lili Guo, Dehang Wang, Genji Bo, Hui Zhang, Weijing Tao, Ying Shi
Brain damage following a perinatal hypoxic-ischemic encephalopathy (HIE) can be diagnosed by different techniques. The aim of the present study was to combine magnetic resonance (MR) imaging with proton MR spectroscopy in HIE diagnosis and to evaluate their correlation with outcome. A prospective observational cohort study was performed between February 2012 and February 2013. Consecutive newborns, 24 full-term neonates with HIE (mild to moderate and severe group) and 5 normal neonates, were included. Two sequential MR studies were performed; a conventional MR imaging for observation in T1 weighted image (WI) and T2WI, and proton MR spectroscopy for observation in the left or right basal ganglia and thalamus...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27881816/hypothermia-treated-neonates-with-hypoxic-ischemic-encephalopathy-optimal-timing-of-quantitative-adc-measurement-to-predict-disease-severity
#14
Yauk K Lee, Alex Penn, Mahesh Patel, Rajul Pandit, Dongli Song, Bo Yoon Ha
To determine the optimal time window for MR imaging with quantitative ADC measurement in neonatal HIE after hypothermia treatment, a retrospective review was performed on consecutive hypothermia-treated term neonates with HIE, with an initial and follow-up MR imaging within the first two weeks of life. Three neuroradiologists categorized each set of MR imaging as normal, mild, moderate or severe HIE based on a consensus review of the serial imaging. The lowest ADC values from the white matter, corpus callosum, and basal ganglia/thalamus were measured...
November 23, 2016: Neuroradiology Journal
https://www.readbyqxmd.com/read/27875769/status-epilepticus-in-pregnant-women-with-epilepsy-after-valproate-adjustment-a-case-series
#15
Mengqian Wu, Nanya Hao, Bo Yan, Xiaosa Chi, Dong Zhou
PURPOSE: Valproate is an effective wide-spectrum anti-epileptic drug that is also known to be teratogenic. Its administration in epileptic women remains controversial. This report aims to draw more attention to valproate adjustment before and during pregnancy. METHODS: We collected medical records of pregnant women with epilepsy at West China Hospital in Chengdu, China who developed status epilepticus during pregnancy after valproate withdrawal or reduction in dose from January 2013 to July 2015...
November 14, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27872177/levetiracetam-for-the-treatment-of-seizures-in-neonatal-hypoxic-ischemic-encephalopathy
#16
Charu Venkatesan, Sarah Young, Mark Schapiro, Cameron Thomas
The objective of this study was to determine the efficacy and safety of levetiracetam in treatment of neonatal seizures due to hypoxic ischemic encephalopathy. Seizures often persist in neonates with hypoxic ischemic encephalopathy despite phenobarbital. A retrospective single-center study was conducted in neonates ≥36 weeks gestation with hypoxic ischemic encephalopathy. A total of 127 neonates were identified born 2008-2015. Clinical seizures occurred in 83 infants. Fifty-one neonates (61%) had cessation of seizures with only phenobarbital...
November 21, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#17
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
October 18, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27865094/planned-home-birth-and-the-association-with-neonatal-hypoxic-ischemic-encephalopathy
#18
Shane W Wasden, Stephen T Chasen, Jeffrey M Perlman, Jessica L Illuzzi, Frank A Chervenak, Amos Grunebaum, Heather S Lipkind
OBJECTIVE: To evaluate the association between planned home birth and neonatal hypoxic ischemic encephalopathy (HIE). METHODS: This is a case-control study in which a database of neonates who underwent head cooling for HIE at our institution from 2007 to 2011 was linked to New York City (NYC) vital records. Four normal controls per case were then randomly selected from the birth certificate data after matching for year of birth, geographic location, and gestational age...
November 19, 2016: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/27863707/outcomes-in-childhood-following-therapeutic-hypothermia-for-neonatal-hypoxic-ischemic-encephalopathy-hie
#19
REVIEW
Girija Natarajan, Athina Pappas, Seetha Shankaran
In this article, we review the childhood outcomes of neonates with birth depression and/or hypoxic-ischemic encephalopathy. The outcomes of these children prior to the era of hypothermia for neuroprotection will first be summarized, followed by discussion of results from randomized controlled trials of therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy. The predictors of outcome in childhood following neonatal HIE using clinical and imaging biomarkers following hypothermia therapy will be described...
November 15, 2016: Seminars in Perinatology
https://www.readbyqxmd.com/read/27861786/infantile-spasms-and-encephalopathy-without-preceding-neonatal-seizures-caused-by-kcnq2-r198q-a-gain-of-function-variant
#20
John J Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A Mikati, Edward C Cooper, Maurizio Taglialatela
Variants in KCNQ2 encoding for Kv 7.2 neuronal K(+) channel subunits lead to a spectrum of neonatal-onset epilepsies, ranging from self-limiting forms to severe epileptic encephalopathy. Most KCNQ2 pathogenic variants cause loss-of-function, whereas few increase channel activity (gain-of-function). We herein provide evidence for a new phenotypic and functional profile in KCNQ2-related epilepsy: infantile spasms without prior neonatal seizures associated with a gain-of-function gene variant. With use of an international registry, we identified four unrelated patients with the same de novo heterozygous KCNQ2 c...
November 9, 2016: Epilepsia
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