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https://www.readbyqxmd.com/read/29337147/neuronal-pten-deletion-in-adult-cortical-neurons-triggers-progressive-growth-of-cell-bodies-dendrites-and-axons
#1
Erin A Gallent, Oswald Steward
Deletion of the phosphatase and tensin (PTEN) gene in neonatal mice leads to enlargement of the cell bodies of cortical motoneurons (CMNs) in adulthood (Gutilla et al., 2016). Here, we assessed whether PTEN deletion in adult mice would trigger growth of mature neurons. PTEN was deleted by injecting AAV-Cre into the sensorimotor cortex of adult transgenic mice with a lox-P flanked exon 5 of the PTEN gene and Cre-dependent reporter gene tdTomato. PTEN-deleted CMN's identified by tdT expression and retrograde labeling with fluorogold (FG) were significantly enlarged four months following PTEN deletion, and continued to increase in size through the latest time intervals examined (12-15 months post-deletion)...
January 11, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29335023/early-neonatal-glutaric-aciduria-type-i-hidden-by-perinatal-asphyxia-a-case-report
#2
Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo
BACKGROUND: Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions. Hypoxia related brain injury is particularly relevant, as it may have permanent effects on neuropsychomotor development. Antepartum obstetric conditions, may, in turn, lead to hypoxic-ischemic damage to the fetus and the newborn, often underlying PA. Herein, a case of PA that hid and triggered signs and symptoms of Glutaric Aciduria type I (GA-I), is reported...
January 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29331007/anaesthetic-management-of-nesidioblastosis-in-two-infants
#3
Muhammad Saad Yousuf, Mohsin Nazir Butt, Fauzia Anis Khan
Nesidioblastosis is the most common cause of non-transient, recurrent and persistent hypoglycaemia in neonates and infants. It is a disorder of diffuse proliferation of beta cells of the pancreas leading to hyperinsulinemia and hypoglycaemia. The main aim is to prevent the severe episodes of hypoglycaemia which can cause damage to the brain and/or mental retardation. In this case report we present two cases of nesidioblastosis and their perioperative anaesthetic course for near-total pancreatectomy. First case was a 7 months old female who had repeated episodes of convulsions since birth...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29330547/recessive-loss-of-function-pign-alleles-including-an-intragenic-deletion-with-founder-effect-in-la-r%C3%A3-union-island-in-patients-with-fryns-syndrome
#4
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M Campeau, Julien Thevenon
Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations. FS is typically lethal in the fetal or neonatal period. Inheritance is presumed autosomal recessive. Although no major genetic cause has been identified for FS, biallelic truncating variants in PIGN, encoding a component of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, have been identified in a limited number of cases with a phenotype compatible with FS...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29326055/a-retrospective-biochemical-molecular-and-neurocognitive-review-of-saudi-patients-with-argininosuccinic-aciduria
#5
Ruqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, Zuhair Rahbeeni
A retrospective review was compiled of 54 patients with argininosuccinic aciduria who were either identified through the Saudi National Newborn Screening Program or diagnosed clinically from January 2000 to December 2015. The duration of follow-up is from 2 to 19 years. The majority of patients (65%) originated from the central province of Saudi Arabia. The mean patient age at review was 10 years (2-19 years), 92% received an early diagnosis (<28 days of age) and most were symptomatic at the time of the diagnosis (n = 34)...
January 8, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29319897/application-of-a-physiologically-based-pharmacokinetic-model-for-the-prediction-of-bumetanide-plasma-and-brain-concentrations-in-the-neonate
#6
Maria D Donovan, Khaled Abduljalil, John F Cryan, Geraldine B Boylan, Brendan T Griffin
Bumetanide is a loop diuretic that is proposed to possess a beneficial effect on disorders of the central nervous system, including neonatal seizures. Therefore, prediction of unbound bumetanide concentrations in brain is relevant from a pharmacological prospective. A physiologically-based pharmacokinetic (PBPK) model was developed for the prediction of bumetanide disposition in plasma and brain in adult and pediatric populations. A compound file was built for bumetanide integrating physicochemical data and in vitro data...
January 10, 2018: Biopharmaceutics & Drug Disposition
https://www.readbyqxmd.com/read/29315524/neonatal-phenobarbital-exposure-disrupts-gabaergic-synaptic-maturation-in-rat-ca1-neurons
#7
Nour Al-Muhtasib, Alberto Sepulveda-Rodriguez, Stefano Vicini, Patrick A Forcelli
OBJECTIVE: Phenobarbital is the most commonly utilized drug for the treatment of neonatal seizures. The use of phenobarbital continues despite growing evidence that it exerts suboptimal seizure control and is associated with long-term alterations in brain structure, function, and behavior. Alterations following neonatal phenobarbital exposure include acute induction of neuronal apoptosis, disruption of synaptic development in the striatum, and a host of behavioral deficits. These behavioral deficits include those in learning and memory mediated by the hippocampus...
January 5, 2018: Epilepsia
https://www.readbyqxmd.com/read/29314548/clinical-biochemical-and-genetic-features-associated-with-vars2-related-mitochondrial-disease
#8
Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, Bryn D Webb, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Langping He, Ewa Skorupa, Isabella Moroni, Anna Ardissone, Anna Walczak, Henna Tyynismaa, Pirjo Isohanni, Hanna Mandel, Holger Prokisch, Tobias Haack, Penelope E Bonnen, Bertini Enrico, Ewa Pronicka, Daniele Ghezzi, Robert W Taylor, Daria Diodato
In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2, encoding the mitochondrial valyl tRNA-synthetase, were first reported in a patient with psychomotor delay and epilepsia partialis continua associated with an oxidative phosphorylation (OXPHOS) complex I defect, before being described in a patient with a neonatal form of encephalocardiomyopathy...
January 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29314318/two-novel-cps1-mutations-in-a-case-of-carbamoyl-phosphate-synthetase-1-deficiency-causing-hyperammonemia-and-leukodystrophy
#9
Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu
BACKGROUND: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive disorder of the urea cycle, mostly characterized by hyperammonemia and the concomitant leukodystrophy. The onset of CPS1D can be at any age, and the clinical manifestations are variable and atypical. Genetic tests are indispensable for accurate diagnosis of CPS1D on the basis of biochemical tests. METHODS: Blood tandem mass spectrometric analysis and urea organic acidemia screening were performed on a Chinese neonatal patient with low activity, recurrent seizures, and hyperammonemia...
January 4, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29296617/flupirtine-and-diazepam-combination-terminates-established-status-epilepticus-results-in-three-rodent-models
#10
Terry Zhang, Marko S Todorovic, John Williamson, Jaideep Kapur
Objective: Status epilepticus (SE) is a neurological emergency requiring rapid termination of seizures. New treatment choices are needed for benzodiazepine-refractory SE or established SE (ESE). Previous studies have demonstrated that the potassium-channel opener flupirtine terminates seizures in neonatal animals. However, its effectiveness in adult ESE has not been tested. We tested whether flupirtine alone or in combination with the benzodiazepine diazepam would terminate ESE in three animal models...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29295802/hydrocephalus-in-pyridoxine-dependent-epilepsy-new-case-and-literature-review
#11
Virginia Navarro-Abia, María Soriano-Ramos, Noemí Núñez-Enamorado, Ana Camacho-Salas, Ana Martinez-de Aragón, Elena Martín-Hernández, Rogelio Simón-de Las Heras
INTRODUCTION: Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to seizures. We report a new case of PDE who developed hydrocephalus, along with an exhaustive review of the literature. CASE REPORT: Our patient presented with seizures at 13 h of life. Antiepileptic drugs, vitamins and cofactors were required to achieve seizure control...
December 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/29287786/leptin-treatment-prevents-long-term-abnormalities-in-cognition-seizure-threshold-hippocampal-mossy-fiber-sprouting-and-znt3-cb-d28k-expression-in-a-rat-developmental-twist-seizure-model
#12
Hong Ni, Su-Hong Chen, Li-Li Li, Mei-Fang Jin
The mechanism of linking neonatal seizures with long-term brain damage is unclear, and there is no effective drug to block this long-term pathological process. Recently, the fat-derived hormone leptin has been appreciated for its neuroprotective function in neurodegenerative processes, although less is known about the effects of leptin on neonatal seizure-induced brain damage. Here, we developed a "twist" seizure model by coupling pilocarpine-induced neonatal status epilepticus (SE) with later exposure to penicillin to test whether leptin treatment immediately after neonatal SE would exert neuroprotective effects on cognition, seizure threshold and hippocampal mossy fiber sprouting, as well if leptin had any influence on the expression of zinc transporter 3 (ZnT3) and calcium homeostasis-related CB-D28k in the hippocampus...
December 26, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29287296/risk-of-neonatal-neurologic-morbidity-in-advancing-term-gestations
#13
Adam K Lewkowitz, Molly J Stout, Methodius G Tuuli, Julia D López, George A Macones, Alison G Cahill
OBJECTIVE:  Placental insufficiency is associated with neonatal neurologic morbidity and late-term gestations (410/7-416/7 weeks). Whether late-term infants are at increased risk of neurologic morbidity compared with term infants (390/7-406/7 weeks) remains unclear. We aim to compare risk of neurologic morbidity among late-term and term infants. STUDY DESIGN:  This secondary analysis of a single-institution prospective cohort study included all liveborn, nonanomalous singleton term and late-term infants, with data on adverse neonatal outcomes up until 28 days of life...
December 29, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#14
Shanshan Mao, Qi Long, Huijia Lin, Jinling Liu
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation (TSC2c.1642_1643insA or TSC2p.K549fsX589), in which multiple cardiac rhabdomyomas were detected by fetal echocardiography in week 31 of pregnancy. The infant was delivered successfully; however, seizures began 16 days following birth. Subsequent genetic tests confirmed a diagnosis of TSC. Rapamycin treatment resulted in regression of cardiac rhabdomyomas and controlled seizures...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29279777/ornithine-transcarbamylase-deficiency-if-at-first-you-do-not-diagnose-try-and-try-again
#15
Christan D Santos, Robert A Ratzlaff, Jennifer C Meder, Paldeep S Atwal, Nicole E Joyce
Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is rare (and likely underdiagnosed); however, OTC deficiency can be life-threatening and requires prompt investigation and treatment. Reports and guidelines are scarce due to its rarity. Here, we present a 59-year-old woman with a past history of irritable bowel syndrome who underwent a reparative operation for rectal prolapse and enterocele...
2017: Case Reports in Critical Care
https://www.readbyqxmd.com/read/29276423/hypoglycemia-when-to-treat
#16
REVIEW
Venkat Reddy Kallem, Aakash Pandita, Girish Gupta
Hypoglycemia is the most common metabolic disorder encountered in neonates. The definition of hypoglycemia as well as its clinical significance and management remain controversial. Most cases of neonatal hypoglycemia are transient, respond readily to treatment, and are associated with an excellent prognosis. Persistent hypoglycemia is more likely to be associated with abnormal endocrine conditions, such as hyperinsulinemia, as well as possible neurologic sequelae. Manifestations of hypoglycemia include seizures which can result in noteworthy neuromorbidity in the long haul...
2017: Clinical Medicine Insights. Pediatrics
https://www.readbyqxmd.com/read/29244798/amplitude-integrated-electroencephalography-during-the-first-72-hours-after-birth-in-neonates-diagnosed-prenatally-with-congenital-heart-disease
#17
Mirthe J Mebius, Nathalie J E Oostdijk, Sara J Kuik, Arend F Bos, Rolf M F Berger, Caterina M Bilardo, Elisabeth M W Kooi, Hendrik J Ter Horst
BACKGROUND: Little is known on amplitude-integrated electroencephalography (aEEG) during the first days after birth in neonates with CHD. Our aim was, therefore, to assess electro-cortical activity using aEEG within the first 72 h after birth in neonates diagnosed prenatally with CHD, and to define independent prenatal and postnatal predictors for abnormal aEEG. METHODS: Neonates with CHD that were admitted to the neonatal intensive care unit between 2010 and 2017 were retrospectively included...
December 15, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29239743/phenotypic-and-molecular-spectrum-of-aicardi-gouti%C3%A3-res-syndrome-a-study-of-24-patients
#18
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/29227795/divergent-effects-of-levetiracetam-and-tiagabine-against-spontaneous-seizures-in-adult-rats-following-neonatal-hypoxia
#19
Raymond Dunn, Bridget N Queenan, Daniel T S Pak, Patrick A Forcelli
Animal models are valuable tools for screening novel therapies for patients who suffer from epilepsy. However, a wide array of models are necessary to cover the diversity of human epilepsies. In humans, neonatal hypoxia (or hypoxia-ischemia) is one of the most common causes of epilepsy early in life. Hypoxia-induced seizures (HS) during the neonatal period can also lead to spontaneous seizures in adulthood. This phenomenon, i.e., early-life hypoxia leading to adult epilepsy - is also seen in experimental models, including rats...
December 5, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29226520/a-novel-homozygous-slc25a1-mutation-with-impaired-mitochondrial-complex-v-possible-phenotypic-expansion
#20
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
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