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Seizure and infant and treatment

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https://www.readbyqxmd.com/read/28202706/clinical-and-genetic-factors-predicting-dravet-syndrome-in-infants-with-scn1a-mutations
#1
Valentina Cetica, Sara Chiari, Davide Mei, Elena Parrini, Laura Grisotto, Carla Marini, Daniela Pucatti, Annarita Ferrari, Federico Sicca, Nicola Specchio, Marina Trivisano, Domenica Battaglia, Ilaria Contaldo, Nelia Zamponi, Cristina Petrelli, Tiziana Granata, Francesca Ragona, Giuliano Avanzini, Renzo Guerrini
OBJECTIVE: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS: Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28170189/mesenchymal-stem-cells-yield-transient-improvements-in-motor-function-in-an-infant-rhesus-macaque-with-severe-early-onset-krabbe-disease
#2
Irina A Isakova, Kate C Baker, Jason Dufour, Donald G Phinney
Krabbe disease, or globoid cell leukodystrophy, is a rare disorder caused by deficient galactosylceramidase activity and loss of myelin-forming oligodendrocytes, resulting in progressive demyelination and severely impaired motor function. Disease symptoms in humans appear within 3-6 months of age (early infantile) and manifest as marked irritability, spasticity, and seizures. The disease is often fatal by the second year of life, with few effective treatment options. Herein we evaluated the therapeutic potential of mesenchymal stem cells (MSCs) administered intracranially to a 1-month-old rhesus macaque diagnosed with severe early-onset Krabbe disease that displayed neurologic and behavioral symptoms similar to those of human patients...
January 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28169412/-reversible-alterations-in-the-neuroimages-associated-with-vigabatrine-treatment-in-infants-with-epileptic-spasms
#3
M A Fernandez-Garcia, J J Garcia-Penas, H Gomez-Martin, I Perez-Sebastian, E Garcia-Esparza, S Sirvent-Cerda
INTRODUCTION: Vigabatrin (VGB) is a first-line drug for the treatment of infantile spasms. Recently, several reports claim the existence of abnormalities in magnetic resonance imaging (MRI) (particularly affecting basal ganglia, and visible in T2 and diffusion sequences) in infants with spasms that were receiving high doses of VGB (> 100 mg/kg/day), which appear to be reversible after withdrawal of treatment. CASE REPORTS: We present two cases with an epileptic encephalopathy in the first year of life and seizures consisting of infantile spasms...
February 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28168591/neonatal-abstinence-syndrome-trend-and-expenditure-in-louisiana-medicaid-2003-2013
#4
Ekwutosi M Okoroh, Rebekah E Gee, Baogong Jiang, Melissa B McNeil, Beverly A Hardy-Decuir, Amy L Zapata
Objectives Determine trends in incidence and expenditure for perinatal drug exposure and neonatal abstinence syndrome (NAS) among Louisiana's Medicaid population. We also describe the maternal characteristics of NAS affected infants. Methods Retrospective cohort analysis using linked Medicaid and vital records data from 2003 to 2013. Conducted incidence and cost trends for drug exposed infants with and without NAS. Also performed comparison statistics among drug exposed infants with and without NAS and those not drug exposed...
February 6, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28135894/infantile-serine-biosynthesis-defect-due-to-phosphoglycerate-dehydrogenase-deficiency-variability-in-phenotype-and-treatment-response-novel-mutations-and-diagnostic-challenges
#5
Paul J Benke, Ryan J Hidalgo, Bruce H Braffman, Judith Jans, Koen L I van Gassen, Rawda Sunbul, Ayman W El-Hattab
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity...
1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28135233/use-of-colistin-in-a-neonatal-intensive-care-unit-a-cohort-study-of-65-patients
#6
Eren Çağan, Evrim Kıray Baş, Hüseyin Selim Asker
BACKGROUND The emergence of infections related to multidrug-resistant Gram-negative bacilli (MDR-GNB) reintroduced the use of colistin, an antibiotic that was previously abandoned due to adverse effects. However, because of its limited use in neonatal intensive care units, there is very little data about the effectiveness and safety of colistin in children and newborns. In this study, which will be the largest case study in the literature, we aimed to evaluate the effectiveness and safety of colistin in full-term and preterm newborns...
January 30, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28131559/pyridoxine-dependent-epilepsy-a-novel-mutation-in-a-tunisian-child
#7
T Ben Younes, I Kraoua, H Benrhouma, F Nasrallah, N Ben Achour, H Klaa, A Hassen-Rouissi, C Drissi, J-F Benoist, I Ben Youssef-Turki
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine. Without prompt treatment, continued seizures and severe encephalopathy result. Mutations in the ALDH7A1 gene encoding α-amino-adipic semialdehyde (α-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE.
January 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28125772/cardiotocography-versus-intermittent-auscultation-of-fetal-heart-on-admission-to-labour-ward-for-assessment-of-fetal-wellbeing
#8
REVIEW
Declan Devane, Joan G Lalor, Sean Daly, William McGuire, Anna Cuthbert, Valerie Smith
BACKGROUND: The admission cardiotocograph (CTG) is a commonly used screening test consisting of a short (usually 20 minutes) recording of the fetal heart rate (FHR) and uterine activity performed on the mother's admission to the labour ward. This is an update of a review published in 2012. OBJECTIVES: To compare the effects of admission cardiotocography with intermittent auscultation of the FHR on maternal and infant outcomes for pregnant women without risk factors on their admission to the labour ward...
January 26, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28095390/hydrogen-sulfide-promotes-learning-and-memory-and-suppresses-proinflammatory-cytokines-in-repetitive-febrile-seizures
#9
Fei Zhuang, Xuhong Zhou, Hong Li, Xiaochun Yang, Zewu Dong, Wendi Zhou, Jian Chen
OBJECTIVE: Hydrogen sulfide (H2S), as a novel gasotransmitter, plays important roles in a number of physiological and pathological processes. Its effectiveness has been demonstrated in different types of brain disorders but not in repetitive febrile seizure (febrile status epilepticus; FSE) models. This study aims to test whether a donor of H2S sodium sulfhydrate (NaHS) is also effective for FSE in rats. METHODS: FSE was induced in rat pups on postnatal day 10 in water at 45...
January 18, 2017: Neuroimmunomodulation
https://www.readbyqxmd.com/read/28081533/eeg-monitoring-technique-influences-the-management-of-hypoxic-ischemic-seizures-in-neonates-undergoing-therapeutic-hypothermia
#10
Saber Jan, Frances J Northington, Charlamaine M Parkinson, Carl E Stafstrom
Electroencephalogram (EEG) monitoring techniques for neonatal hypoxia-ischemia (HI) are evolving over time, and the specific type of EEG utilized could influence seizure diagnosis and management. We examined whether the type of EEG performed affected seizure treatment decisions (e.g., the choice and number of antiseizure drugs [ASDs]) in therapeutic hypothermia-treated neonates with HI from 2007 to 2015 in the Johns Hopkins Hospital Neonatal Intensive Care Unit. During this period, 3 different EEG monitoring protocols were utilized: Period 1 (2007-2009), single, brief conventional EEG (1 h duration) at a variable time during therapeutic hypothermia treatment, i...
January 17, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28079875/early-postnatal-illness-severity-scores-predict-neurodevelopmental-impairments-at-10-years-of-age-in-children-born-extremely-preterm
#11
J W Logan, O Dammann, E N Allred, C Dammann, K Beam, R M Joseph, T M O'Shea, A Leviton, K C K Kuban
OBJECTIVE: A neonatal illness severity score, The Score for Neonatal Acute Physiology-II (SNAP-II), predicts neurodevelopmental impairments at two years of age among children born extremely preterm. We sought to evaluate to what extent SNAP-II is predictive of cognitive and other neurodevelopmental impairments at 10 years of age. STUDY DESIGN: In a cohort of 874 children born before 28 weeks of gestation, we prospectively collected clinical, physiologic and laboratory data to calculate SNAP-II for each infant...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28079250/use-of-the-ketogenic-diet-in-the-neonatal-intensive-care-unit-safety-and-tolerability
#12
Lindsey Thompson, Erin Fecske, Mohammad Salim, Ara Hall
Drug-resistant epilepsy poses a challenge in neonatal patients, especially those in the neonatal intensive care unit (NICU), who have various secondary comorbidities. We present results of four children with a history of drug-resistant epilepsy for whom a ketogenic diet was initiated and used in the NICU. A nonfasting induction into ketosis over 1-2 weeks was utilized, with gradual increases in the ketogenic ratio every 2-3 days. Data were collected retrospectively from a database, which included medical history, daily progress notes, relevant laboratory data, and imaging and diagnostic information...
January 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/28077749/survey-of-obstetrician-gynecologists-in-the-united-states-about-taeniasis-and-cysticercosis
#13
Rebecca L Hall, Britta Anderson, Jay Schulkin, Paul T Cantey, Susan P Montgomery, Jeffrey L Jones
An estimated 50 million persons worldwide are infected with cysticerci, the larval forms of the Taenia solium tapeworm. Neurocysticercosis can cause seizures, epilepsy, and hydrocephalus, and fatal cases have been reported in the United States in immigrants and in travelers returning from endemic countries. Pregnant women with symptomatic neurocysticercosis present treatment challenges, whereas those with the adult tapeworm infection (i.e., taeniasis) can put their infants and other family members, as well as obstetrician-gynecologists and their staff, at risk for cysticercosis...
January 11, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28070654/anesthesia-management-of-cesarean-section-in-parturient-with-anti-n-methyl-d-aspartate-receptor-encephalitis-a-case-report
#14
Zhimin Liao, Xiaoqin Jiang, Juan Ni
A 24-year-old woman at 29 weeks' gestation, and with psychiatric symptoms, was admitted to hospital and diagnosed as having anti-N-methyl-D-aspartate receptor encephalitis. After 4 weeks of immunotherapy with little effect, an emergency cesarean section was performed at 33(+4) weeks gestation under general anesthesia. The parturient was intubated after rapid sequence induction with etomidate, remifentanil and succinylcholine. Anesthesia was maintained with sevoflurane and remifentanil. Except for low weight, the infant was normal at birth...
January 9, 2017: Journal of Anesthesia
https://www.readbyqxmd.com/read/28011082/-neonatal-arterial-ischemic-stroke-review-of-the-current-guidelines
#15
E Saliba, T Debillon, S Auvin, O Baud, V Biran, J-L Chabernaud, S Chabrier, F Cneude, A-G Cordier, V Darmency-Stamboul, J-F Diependaele, T Debillon, M Dinomais, C Durand, A Ego, G Favrais, Y Gruel, L Hertz-Pannier, B Husson, S Marret, S N'Guyen The Tich, T Perez, E Saliba, J-B Valentin, C Vuillerot
Neonatal arterial ischemic stroke (NAIS) is a rare event that occurs in approximately one in 5000 term or close-to-term infants. Most affected infants will present with seizures. Although a well-recognized clinical entity, many questions remain regarding diagnosis, risk factors, treatment, and follow-up modalities. In the absence of a known pathophysiological mechanism and lack of evidence-based guidelines, only supportive care is currently provided. To address these issues, a French national committee set up by the French Neonatal Society (Société française de néonatologie) and the national referral center (Centre national de référence) for arterial ischemic stroke in children drew up guidelines based on an HAS (Haute Autorité de santé [HAS]; French national authority for health) methodology...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27977557/safety-of-high-dose-acyclovir-in-infants-with-suspected-and-confirmed-neonatal-herpes-simplex-virus-infections
#16
Jessica E Ericson, Martyn Gostelow, Julie Autmizguine, Christoph P Hornik, Reese H Clark, Daniel K Benjamin, P Brian Smith
BACKGROUND: Acyclovir is used to treat herpes simplex virus (HSV) disease in infants. Treatment with high dose acyclovir, 60 mg/kg/day, is recommended; however, the safety of this dosage has not been assessed in the past 15 years, and this dosage is not currently approved for infants by the US Food and Drug Administration. METHODS: We included infants with neonatal HSV disease treated with ≥14 days of intravenous acyclovir starting in the first 120 days of life admitted to 1 of 42 neonatal intensive care units managed by the Pediatrix Medical Group from 2002-2012...
December 12, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27943220/population-pharmacokinetics-and-exploratory-pharmacodynamics-of-lorazepam-in-pediatric-status-epilepticus
#17
Daniel Gonzalez, James M Chamberlain, Jeffrey T Guptill, Michael Cohen-Wolkowiez, Barrie Harper, Jian Zhao, Edmund V Capparelli
BACKGROUND: Lorazepam is one of the preferred agents used for intravenous treatment of status epilepticus (SE). We combined data from two pediatric clinical trials to characterize the population pharmacokinetics of intravenous lorazepam in infants and children aged 3 months to 17 years with active SE or a history of SE. METHODS: We developed a population pharmacokinetic model for lorazepam using the NONMEM software. We then assessed exploratory exposure-response relationships using the overall efficacy and safety study endpoints, and performed dosing simulations...
December 9, 2016: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/27938595/-two-cases-with-generalized-intracranial-calcification-due-to-hereditary-folate-malabsorption-and-literature-review
#18
Y Zhang, Q Wang, D X Li, Y P Liu, J Q Song, M Q Li, Y P Qin, Y L Yang
Objective: This study aimed to investigate the clinical, biochemical and genetic features of two Chinese children with hereditary folate malabsorption. Method: Clinical features, laboratory examinations, treatment and SLC46A1 gene of two cases were studied. Reports on hereditary folate malabsorption utill September of 2016 were searched and the clinical and genetic characteristics of reported cases were summarized. Result: The two patients presented with megaloblastic anemia from their infant period and seizures, psychomotor retardation and regression...
December 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27932596/infantile-lhermitte-duclos-disease-treated-successfully-with-rapamycin
#19
Megan Zak, Mark Ledbetter, Paul Maertens
Lhermitte-Duclos disease is a rare hamartomatous tumor of the cerebellum resulting from a mutation in the phosphatase and tensin homolog (PTEN) gene: it has been reported in fewer than 10 infants. Rapamycin treatment has not yet been described in Lhermitte-Duclos disease. The infant underwent shunt placement shortly after birth for aqueductal stenosis. Her clinical progression included failure to thrive, seizures, episodes of decerebrate posturing, loss of respiratory drive, and pituitary insufficiency from mass effect...
December 8, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27929527/durations-of-second-stage-of-labor-and-pushing-and-adverse-neonatal-outcomes-a-population-based-cohort-study
#20
A Sandström, M Altman, S Cnattingius, S Johansson, M Ahlberg, O Stephansson
OBJECTIVE: The associations between duration of second stage of labor, pushing time and risk of adverse neonatal outcomes are not fully established. Therefore, we aimed to examine such relationships. STUDY DESIGN: A population-based cohort study including 42 539 nulliparous women with singleton infants born in cephalic presentation at ⩾37 gestational weeks, using the Stockholm-Gotland Obstetric Cohort, Sweden, and the Swedish Neonatal Quality Register, 2008 to 2013...
December 8, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
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