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https://www.readbyqxmd.com/read/28343228/focal-brain-injury-associated-with-a-model-of-severe-hypoxic-ischemic-encephalopathy-in-nonhuman-primates
#1
Ryan M McAdams, Ronald J McPherson, Raj P Kapur, Sandra E Juul
Worldwide, hypoxic-ischemic encephalopathy (HIE) is a major cause of neonatal mortality and morbidity. To better understand the mechanisms contributing to brain injury and improve outcomes in neonates with HIE, better preclinical animal models that mimic the clinical situation following birth asphyxia in term newborns are needed. In an effort to achieve this goal, we modified our nonhuman primate model of HIE induced by in utero umbilical cord occlusion (UCO) to include postnatal hypoxic episodes, in order to simulate apneic events in human neonates with HIE...
March 25, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28286848/brain-ultrasonography-findings-in-neonatal-seizure-a-cross-sectional-study
#2
Seyed Saeed Nabavi, Parinaz Partovi
INTRODUCTION: Screening of newborns with seizure, who have curable pathologic brain findings, might be able to improve their final outcome by accelerating treatment intervention. The present study aimed to evaluate the brain ultrasonography findings of newborns hospitalized with complaint of seizure. METHODS: The present cross-sectional study designed to evaluate brain ultrasonography findings of hospitalized newborns complaining seizure. Neonatal seizure was defined as presence of tonic, clonic, myoclonic, and subtle attacks in 1 - 28 day old newborns...
2017: Emergency (Tehran, Iran)
https://www.readbyqxmd.com/read/28284393/epilepsy-in-inborn-errors-of-metabolism-with-therapeutic-options
#3
Jaume Campistol
Inborn errors of metabolism (IEM) are rare conditions that represent more than 1000 diseases, with a global prevalence of approximately 1:2000 individuals. Approximately, 40%-60% of IEM may present with epilepsy as one of the main neurologic signs. Epilepsy in IEM may appear at any age (fetal, newborn, infant, adolescent, or even adult). Different pathophysiological mechanisms may be responsible for the clinical phenotype, such as disturbances in energy metabolism (mitochondrial and fatty oxidation disorders, GLUT-1, and cerebral creatine deficiency), accumulation of complex molecules (lysosomal storage disorders), toxic mechanisms (organic acidurias and urea cycle disorders), or impairment of neurotransmission...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28280642/severe-preeclampsia-in-the-setting-of-myasthenia-gravis
#4
Adam J Lake, Antoun Al Khabbaz, Renée Keeney
Myasthenia gravis (MG) is a rare autoimmune disease that leads to progressive muscle weakness and is common during female reproductive years. The myasthenic mother and her newborn must be observed carefully, as complications during all stages of pregnancy and the puerperium may arise suddenly. Preeclampsia is a common obstetrical condition for which magnesium sulfate is used for seizure prophylaxis. However, magnesium sulfate is strongly contraindicated in MG as it impairs already slowed nerve-muscle connections...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28255477/a-newborn-with-panhypopituitarism-and-seizures
#5
Trupti Kale, Rachit Patil, Ramesh Pandit
Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28238808/hypophosphatasia-an-overview-for-2017
#6
Michael P Whyte
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver, kidney, and developing teeth...
February 24, 2017: Bone
https://www.readbyqxmd.com/read/28237690/corticokinematic-coherence-as-a-new-marker-for-somatosensory-afference-in-newborns
#7
Eero Smeds, Sampsa Vanhatalo, Harri Piitulainen, Mathieu Bourguignon, Veikko Jousmäki, Riitta Hari
OBJECTIVE: Somatosensory evoked potentials have high prognostic value in neonatal intensive care, but their recording from infants is challenging. Here, we studied the possibility to elicit cortical responses in newborns by simple passive hand movements. METHODS: We examined 13 newborns (postnatal age 1-46days) during clinically indicated 19-channel electroencephalography (EEG) recordings in the neonatal intensive care unit; EEG indications included birth asphyxia and suspected epileptic seizures...
April 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28225048/thiamine-deficiency-oxidative-metabolic-pathways-and-ethanol-induced-neurotoxicity-how-poor-nutrition-contributes-to-the-alcoholic-syndrome-as-marchiafava-bignami-disease
#8
REVIEW
L M P Fernandes, F R Bezerra, M C Monteiro, M L Silva, F R de Oliveira, R R Lima, E A Fontes-Júnior, C S F Maia
Ethanol is an important risk factor for the occurrence of several brain disorders that depend on the amount, period and frequency of its consumption. Chronic use of ethanol often leads to the development of neurodegenerative syndromes, which cause morphological and functional impairments such as foetal alcohol syndrome in newborns exposed to ethanol during pregnancy, Wernicke-Korsakoff Syndrome and, more rarely, Marchiafava-Bignami disease (MBD). MBD is characterized by primary degeneration of the corpus callosum, without inflammation and is associated with oxidative stress and hypovitaminosis, as well as altered mental status, to mention dementia, seizures, depression and so on...
February 22, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#9
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28219359/congenital-tuberculosis-in-an-extremely-preterm-infant-conceived-after-in-vitro-fertilization-case-report
#10
Veronica Samedi, Stephen K Field, Essa Al Awad, Gregory Ratcliffe, Kamran Yusuf
BACKGROUND: Congenital tuberculosis is a rare manifestation of tuberculosis. The diagnosis is often delayed, especially in preterm neonates because of the non-specific clinical presentation and the lack of awareness of maternal disease prior to pregnancy. CASE PRESENTATION: We report a case of congenital tuberculosis in an infant born at 24 weeks of gestation to a mother who presented with uncontrolled seizures during preterm labor. Maternal diagnosis was initially made by placental pathology, and later confirmed by isolation of Mycobacterium tuberculosis in urine, gastric aspirates and sputum...
February 20, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28217152/value-of-electroencephalographic-monitoring-in-newborns-with-hypoxic-ischemic-encephalopathy-treated-with-hypothermia
#11
Hatem Hamed Elshorbagy, Ahmed A Azab, Naglaa M Kamal, Naglaa Fathy Barseem, Mohamed M Bassiouny, Mostafa A Elsayed, Tohamy H Elkhouly
BACKGROUND: The values of electroencephalography (EEG) in neonatal hypoxic-ischemic encephalopathy (HIE) during therapeutic hypothermia (TH) are still uncertain. AIMS: The aim of this study is to detect EEG background, the prevalence of seizures during cooling, and to determine different EEG patterns that can predict brain injury in magnetic resonance imaging (MRI). PATIENTS AND METHODS: Thirty-nine newborns with HIE were subjected to TH. Continuous monitoring by video-EEG was carried out throughout cooling and during rewarming...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28194288/variability-in-clinical-presentation-of-neonatal-stroke-report-of-four-cases
#12
Sonia Joseph, Dimitrios Angelis, Robert Bennett, Bhargavi Kola, Amanda Hughes
Neonatal stroke can be a cause of long term neurodevelopmental disability, seizures, and impaired cognitive function. We present four cases of neonatal stroke, associated with different risk factors and clinical presentations. Two of these newborns were born to mothers with no prenatal care.
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28188975/contemporary-analysis-of-maternal-and-neonatal-morbidity-after-uterine-rupture-a-nationwide-population-based-study
#13
Gustavo Vilchez, Jing Dai, Komal Kumar, Moraima Lagos, Robert J Sokol
AIM: Uterine rupture is a rare but feared perinatal event. Despite abundant research and changes to guidelines implemented to reduce this complication, evaluation of whether uterine rupture still engenders significant maternal/neonatal morbidity has not been conducted. We analyzed recent cases of maternal/neonatal morbidity after uterine rupture. METHODS: Deliveries complicated by uterine rupture from 2011 to 2012 in the United States were selected. Comparison cases without uterine rupture were used as controls...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28184323/congenital-tuberculosis-a-newborn-case-report-with-rare-manifestation
#14
Hadi Khorsand Zak, Shahin Mafinezhad, Ali Haghbin
INTRODUCTION: Congenital tuberculosis is an infrequently encountered condition and only 300 cases were reported in the literature till 1989. There are no specific signs and symptoms pathognomonic for congenital TB, and the devastating consequences in the absence of early therapy signify the importance of early diagnosis and treatment during the neonatal period. CASE PRESENTATION: In this paper we report on a case of congenital TB in a newborn who was admitted to our clinic with seizures and intraventricular hemorrhage (IVH) due to TB meningitis...
October 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28167405/exploring-temporal-information-in-neonatal-seizures-using-a-dynamic-time-warping-based-svm-kernel
#15
Rehan Ahmed, Andriy Temko, William P Marnane, Geraldine Boylan, Gordon Lightbody
Seizure events in newborns change in frequency, morphology, and propagation. This contextual information is explored at the classifier level in the proposed patient-independent neonatal seizure detection system. The system is based on the combination of a static and a sequential SVM classifier. A Gaussian dynamic time warping based kernel is used in the sequential classifier. The system is validated on a large dataset of EEG recordings from 17 neonates. The obtained results show an increase in the detection rate at very low false detections per hour, particularly achieving a 12% improvement in the detection of short seizure events over the static RBF kernel based system...
March 1, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28161194/bumetanide-reduce-the-seizure-susceptibility-induced-by-pentylenetetrazol-via-inhibition-of-aberrant-hippocampal-neurogenesis-in-neonatal-rats-after-hypoxia-ischemia
#16
Jiang-Jian Hu, Xing-Liang Yang, Wen-Di Luo, Song Han, Jun Yin, Wan-Hong Liu, Xiao-Hua He, Bi-Wen Peng
Hypoxia-ischemia brain damage (HIBD) is one of prevalent causes of neonatal mortality and morbidity. Our data demonstrated that hypoxia-ischemia (HI) induced Na(+)-K(+)-Cl(-)-co-transporter 1 (NKCC1) increasing in hippocampus. Previous studies demonstrated that NKCC1 regulates various stages of neurogenesis. In this study, we studied the role of increased NKCC1 in regulating of HI-induced neurogenesis. HIBD model was established in 7days old Sprague-Dawley rat pup, and the expression of NKCC1 was detected by western blot and qPCR...
February 2, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28141712/significant-sleep-dysregulation-in-a-toddler-with-developmental-delay
#17
Martin T Stein, Judith Owens, Myles Abbott
Derrick's parents made an appointment with a new pediatrician for a second opinion about disordered sleep. Now 22-months old, he was evaluated at 18 months of age for developmental delay when he was found to have "a regulatory disorder associated with delays in language and motor development, hypotonia and significant sleep problems." The parents are now most concerned about his sleeping pattern. Prolonged sleep onset and frequent night awaking occur each night since 6-months of age. These problems are more severe in the past few months when he awakes screaming and cannot be settled...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28135233/use-of-colistin-in-a-neonatal-intensive-care-unit-a-cohort-study-of-65-patients
#18
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/28126187/sturge-weber-syndrome-a-review
#19
E Higueros, E Roe, E Granell, E Baselga
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma...
January 23, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28114647/clinical-characteristics-risk-factors-and-outcomes-associated-with-neonatal-hemorrhagic-stroke-a-population-based-case-control-study
#20
Lauran Cole, Deborah Dewey, Nicole Letourneau, Bonnie J Kaplan, Kathleen Chaput, Clare Gallagher, Jacquie Hodge, Amalia Floer, Adam Kirton
Importance: Hemorrhage into the brain of term newborns often results in major injury and lifelong disability. The clinical epidemiology of neonatal hemorrhagic stroke (NHS) remains undefined, hindering the development of strategies to improve outcomes. Objective: To characterize the incidence, types, presentations, associated factors, and outcomes of neonatal hemorrhagic stroke. Design, Setting, and Participants: Population-based, nested case-control study...
March 1, 2017: JAMA Pediatrics
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