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https://www.readbyqxmd.com/read/28530318/-severe-infantile-hypophosphatasia
#1
Evgenia Gurevich, Daniel Landau
Hypophosphatasia is the inborn error of metabolism that is characterized by low serum alkaline-phosphatase activity, due to loss-of-function mutations within the gene for tissuenonspecific isoenzyme of alkaline phosphatase [TNSALP]. The manifestations of hypophosphatasia range from neonatal death with almost no skeletal mineralization to dental problems in adults without any bone symptoms. There are no case reports of infantile hypophosphatasia in Israel. The existence of enzymatic replacement treatment for this disease makes it important to diagnose this problem as soon as possible...
January 2017: Harefuah
https://www.readbyqxmd.com/read/28516331/burden-of-herpes-simplex-virus-encephalitis-in-the-united-states
#2
S Modi, Abhimanyu Mahajan, D Dharaiya, P Varelas, P Mitsias
Herpes simplex virus encephalitis (HSVE) is a disease of public health concern, but its burden on the healthcare of United States has not been adequately assessed recently. We aimed to define the incidence, complications and outcomes of HSVE in the recent decade by analyzing data from a nationally representative database. Healthcare Cost and Utilization Project databases were utilized to identify patients with primary discharge diagnosis of HSVE. Annual hospitalization rate was estimated and several preselected inpatient complications were identified...
May 17, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28506426/heterogeneity-of-fhf1-related-phenotype-novel-case-with-early-onset-severe-attacks-of-apnea-partial-mitochondrial-respiratory-chain-complex-ii-deficiency-neonatal-onset-seizures-without-neurodegeneration
#3
Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cécile Mignon-Ravix, Brigitte Chabrol, Laurent Villard, Mathieu Milh
INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was normal. Recording of attacks using prolonged video-EEG recording allowed to confirm the diagnosis of epileptic seizures. RESULTS: Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p...
April 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28503627/two-novel-kcnq2-mutations-in-2-families-with-benign-familial-neonatal-convulsions
#4
Ghalia Al Yazidi, Michael I Shevell, Myriam Srour
Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in KCNQ2 are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits...
January 2017: Child Neurol Open
https://www.readbyqxmd.com/read/28497078/joubert-syndrome-misleading-presentation-of-two-cases-as-pseudo-tumor-cerebri-and-literature-review
#5
Farrokh Seylanian Toosi, Samineh Boloursaz, Bita Abbasi, Reza Hekmat, Reihaneh Mortazavi Ardestani, Mina Mohajerzadeh
Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and her older sibling, labeled as cerebral palsy. She had renal transplant years ago without the true diagnosis of the disorder. Brain imaging revealed the classic "molar tooth sign" appearance, and clinical evaluation established the diagnosis for both of the siblings. Imaging should be done to evaluate the neuroradiological findings of Joubert syndrome...
2017: Journal of Renal Injury Prevention
https://www.readbyqxmd.com/read/28495146/neonatal-vein-of-labb%C3%A3-infarction-size-is-associated-with-long-term-language-outcomes
#6
Kristen L Benninger, Lynne Ruess, Laurel A Slaughter, Nathalie L Maitre, Jerome A Rusin
BACKGROUND: The vein of Labbé is a superficial cortical vein, which drains the lateral surface of the temporal lobe. Thrombosis of the vein of Labbé can occur in the neonatal period. The developmental outcomes of infants who had vein of Labbé thrombosis are unknown as few studies of outcomes exist. METHODS: We completed a retrospective review of infants born ≥34 weeks of gestation, diagnosed with vein of Labbé thrombosis, and/or infarction on neuroimaging during the first 30 days of life...
April 1, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28489558/evaluation-of-factors-associated-with-elevated-newborn-17-hydroxyprogesterone-levels
#7
V Shobi Anandi, Bhattacharyya Shaila
BACKGROUND: Measurement of 17-hydroxyprogesterone (17-OHP) in dried blood spots has been widely used as a newborn screening tool for congenital adrenal hyperplasia (CAH). Various maternal and neonatal factors can result in falsely high values of 17-OHP. There is a paucity of Indian studies in this regard because routine evaluation of newborn 17-OHP levels as a screening program is not widely practiced in India. Hence, this study was undertaken to evaluate the influence of various maternal and neonatal factors on newborn 17-OHP levels...
May 10, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28489313/in-utero-seizures-revealing-dentato-olivary-dysplasia-caused-by-scn2a-mutation
#8
Fanny Sauvestre, Sébastien Moutton, Catherine Badens, Bernard Broussin, Dominique Carles, Nada Houcinat, Caroline Lacoste, Florent Marguet, Christophe Pecheux, Laurent Villard, Fanny Pelluard, Annie Laquerrière, Gwenaëlle André
Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies, array-CGH and more recently next-generation sequencing (NGS) [1]. Mutations in SCN2A gene have been identified in a wide variety of early-onset epileptic syndromes including benign familial neonatal infantile seizures (BFNIS) [2] and more severe forms leading to encephalopathy such as Ohtahara or West syndromes [3], epilepsy of infancy with migrating focal seizures (EIMFS) [4] and autism spectrum disorders [5]...
May 10, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28486943/kb-r7943-reduces-4-aminopyridine-induced-epileptiform-activity-in-adult-rats-after-neuronal-damage-induced-by-neonatal-monosodium-glutamate-treatment
#9
Mariana Hernandez-Ojeda, Monica E Ureña-Guerrero, Paola E Gutierrez-Barajas, Jazmin A Cardenas-Castillo, Antoni Camins, Carlos Beas-Zarate
BACKGROUND: Neonatal monosodium glutamate (MSG) treatment triggers excitotoxicity and induces a degenerative process that affects several brain regions in a way that could lead to epileptogenesis. Na(+)/Ca(2+) exchangers (NCX1-3) are implicated in Ca(2+) brain homeostasis; normally, they extrude Ca(2+) to control cell inflammation, but after damage and in epilepsy, they introduce Ca(2+) by acting in the reverse mode, amplifying the damage. Changes in NCX3 expression in the hippocampus have been reported immediately after neonatal MSG treatment...
May 9, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28482764/amplitude-integrated-electroencephalography-compared-with-conventional-video-eeg-for-neonatal-seizure-detection-a-diagnostic-accuracy-study
#10
Abhijeet Rakshasbhuvankar, Shripada Rao, Linda Palumbo, Soumya Ghosh, Lakshmi Nagarajan
This diagnostic accuracy study compared the accuracy of seizure detection by amplitude-integrated electroencephalography with the criterion standard conventional video EEG in term and near-term infants at risk of seizures. Simultaneous recording of amplitude-integrated EEG (2-channel amplitude-integrated EEG with raw trace) and video EEG was done for 24 hours for each infant. Amplitude-integrated EEG was interpreted by a neonatologist; video EEG was interpreted by a neurologist independently. Thirty-five infants were included in the analysis...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28482374/novel-rrm2b-mutation-and-severe-mitochondrial-dna-depletion-report-of-2-cases-and-review-of-the-literature
#11
Nesia Kropach, Vered Shkalim-Zemer, Naama Orenstein, Oded Scheuerman, Rachel Straussberg
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness...
May 8, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28480665/dend-syndrome-with-heterozygous-kcnj11-mutation-successfully-treated-with-sulfonylurea
#12
Ja Hyang Cho, Eungu Kang, Beom Hee Lee, Gu Hwan Kim, Jin Ho Choi, Han Wook Yoo
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia...
June 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28473802/the-subiculum-a-potential-site-of-ictogenesis-in-a-neonatal-seizure-model
#13
Xin-Xin Wang, Yong-Hua Li, Hai-Qing Gong, Pei-Ji Liang, Pu-Ming Zhang, Qin-Chi Lu
Studies have reported that the subiculum is one origin of interictal-like discharges in adult patients with temporal lobe epilepsy; however, whether the subiculum represents a site of ictogenesis for neonatal seizures remains unclear. In this study, multi-electrode recording techniques were used to record epileptiform discharges induced by low-Mg(2+) or high-K(+) artificial cerebrospinal fluid in neonatal mouse hippocampal slices, and the spatiotemporal dynamics of the epileptiform discharges were analyzed...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28463933/brief-potentially-ictal-rhythmic-discharges-b-i-rds-in-noncritically-ill-adults
#14
Ji Yeoun Yoo, Lara V Marcuse, Madeline C Fields, Jillian L Rosengard, Maria Vittoria Traversa, Nicolas Gaspard, Lawrence J Hirsch
INTRODUCTION: Brief potentially ictal rhythmic discharges (B(I)RDs) have been described in neonates and critically ill adults, and their association with seizures has been demonstrated. Their significance in noncritically ill adults remains unclear. We aimed to investigate their prevalence, electrographic characteristics, and clinical significance. METHODS: We identified adult patients with B(I)RDs who received long-term EEG recordings either in the epilepsy monitoring unit or in the ambulatory setting...
May 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28448801/the-placental-factor-in-spontaneous-preterm-birth-in-twin-vs-singleton-pregnancies
#15
Eran Weiner, Ann Dekalo, Ohad Feldstein, Elad Barber, Letizia Schreiber, Jacob Bar, Michal Kovo
OBJECTIVE: The association between infection and inflammatory response in singleton preterm birth (PTB) is well established, yet, less is known about PTB in twins. We aimed to compare the placental component and pregnancy outcome in pregnancies complicated with PTB of singletons vs. twin deliveries. We hypothesized that due to different underlying mechanisms, placental inflammatory lesions will be more prevalent in placentas derived from singleton pregnancies than twins. STUDY DESIGN: Labor characteristics, neonatal outcome and placental histopathology reports of spontaneous PTB at 24-33(6)/7 weeks, from 1/2008-12/2015, were reviewed...
April 22, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28446049/the-relationship-between-the-five-minute-apgar-score-mode-of-birth-and-neonatal-outcomes
#16
Harshithaa Thavarajah, Christopher Flatley, Sailesh Kumar
OBJECTIVE: To investigate the relationship between the five-minute Apgar score categories (low, intermediate, and normal), mode of birth and neonatal outcomes. METHODS: This was a retrospective cross sectional study of term singleton deliveries at Mater Mothers' Hospital in Brisbane, Australia between January 2007 and December 2015. The five minute score was subdivided in to three categories - low (0-3), intermediate (4-6), and normal (≥7). These were correlated with adverse neonatal outcomes and mode of birth...
April 26, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28443597/a-different-slc2a1-gene-mutation-in-glut-1-deficiency-syndrome-c-734a-c
#17
Rüya Çolak, Senem Alkan Özdemir, Ezgi Yangın Ergon, Mehtap Kağnıcı, Şebnem Çalkavur
BACKGROUND: Neonatal seizures can be the first symptom of the inborn errors of metabolism. Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. GLUT1DS patient presents with infantile seizures with resistant to traditional seizure medications, developmental delay, acquired microcephaly, spasticity and ataxia. CASE REPORT: Here, we report a rare case of Glucose transporter type 1 deficiency syndrome caused by a different pathogenic variant in a 10-day-old neonate who presented with intractable seizures and respiratory arrest...
April 13, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28438477/apnea-in-the-term-infant
#18
REVIEW
Mary Elaine Patrinos, Richard J Martin
Whereas apnea of prematurity has been well defined and its pathophysiology extensively studied, apnea in the term infant remains a greater challenge. Unfortunately, clear diagnostic criteria are lacking and pathogenesis and management vary widely. In this review we have arbitrarily organized the discussion chronologically into earlier and later postnatal periods. In the first days of life, presumed apnea may reflect physiologic events such as positional or feeding etiologies, or may be a manifestation of serious pathophysiology, such as a seizure disorder...
April 21, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28436817/waveform-window-38-eeg-stages-of-neonatal-hypoxic-ischemic-encephalopathy-from-background-suppression-to-resolution-of-neonatal-seizures
#19
Yuliya Lyutyy, Diana Sieciechowicz, Ahsan Nv Moosa, Elia M Pestana Knight
No abstract text is available yet for this article.
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28433732/the-clinical-significance-of-an-estimated-fetal-weight-below-the-10th-centile-a-comparison-of-outcomes-between-5th-versus-5th-9th-centile
#20
Malgorzata Mlynarczyk, Suneet P Chauhan, Hind A Baydoun, Catherine M Wilkes, Kimberly R Earhart, Yili Zhao, Christopher Goodier, Eugene Chang, Nicole M Lee Plenty, E Kaitlyn Mize, Michelle Owens, Shilpa Babbar, Dev Maulik, Emily DeFranco, David McKinney, Alfred Z Abuhamad
BACKGROUND: The association between small for gestational age (SGA; birth weight < 10(th) centile for gestational age) and neonatal morbidity is well established. Yet there is a paucity of data on the relationship between suspected SGA (sonographic estimated fetal weight <10(th) centile), at two thresholds and subsequent neonatal morbidity. OBJECTIVE: The objective of this study was to determine the relationship between sonographic estimated fetal weight (SEFW) < 5(th) centile versus 5-9(th) centile and neonatal morbidity...
April 19, 2017: American Journal of Obstetrics and Gynecology
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