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seizures and pregnancy

Sophie Dupont
Catamenial epilepsy, defined as the exacerbation of the frequency of seizures in a given phase of the menstrual cycle, affects 35% of women. In women with catamenial epilepsy with perimenstrual seizures, progesterone therapy may be effective. In case of enzyme inducer AEDs, hormonal contraception is deprecated (estroprogestative or progestative pill, progestative implant, patches or hormonal rings). Because of its high malformative teratogenic potential, its possible depressive cognitive effects and the autistic risk, sodium valproate is not indicated during pregnancy...
March 8, 2018: La Presse Médicale
Michelle Rougerie, Nicholas Czuzoj-Shulman, Haim A Abenhaim
PURPOSE: Diabetic ketoacidosis (DKA) is a critical diagnosis that can cause severe morbidity and mortality in the diabetic population. Although it is rare in pregnancy, the aim of this study is to compare DKA in pregnant women with age-matched non-pregnant women to determine if outcomes are influenced by pregnancy. MATERIALS AND METHODS: A population-based age-matched retrospective cohort was carried out using data from the Healthcare Cost and Utilization Project Nationwide Inpatient Sample from 1999 to 2013...
February 27, 2018: Journal of Maternal-fetal & Neonatal Medicine
Sandra Pereira, Mariana Adrião, Mafalda Sampaio, Margarida Ayres Basto, Esmeralda Rodrigues, Laura Vilarinho, Elisa Leão Teles, Isabel Alonso, Miguel Leão
INTRODUCTION: Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing variants in the VARS2 gene, which encodes a mitochondrial aminoacyl-tRNA synthetase. Here we describe a patient with fatal mitochondrial encephalopathy caused by a homozygous VARS2 gene missense variant. CASE REPORT: We report the case of a girl, the first child of non-consanguineous and healthy parents, born from an uneventful term pregnancy, who presented, in the neonatal period, major hypotonia and microcephaly...
February 25, 2018: JIMD Reports
R S Honjo, C B Mello, L S E Pimenta, E C Nuñes-Vaca, L M Benedetto, R B F Khoury, D M Befi-Lopes, C A Kim
BACKGROUND: Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rarely described in detail in the literature. In this study, we analysed the main phenotypic features of CdCS from a parental perspective. METHOD: A questionnaire was sent to 700 Brazilian families that were registered in the Brazilian Association of CdCS...
February 20, 2018: Journal of Intellectual Disability Research: JIDR
M Nelander, A-K Wikström, J Weis, L Bergman, A Larsson, I Sundström-Poromaa, J Wikström
Background: Cerebral complications contribute substantially to mortality in preeclampsia. Pregnancy calls for extensive maternal adaptations, some associated with increased propensity for seizures, but the pathophysiology behind the eclamptic seizures is not fully understood. Plasma osmolality and sodium levels are lowered in pregnancy. This could result in extrusion of cerebral organic osmolytes, including the excitatory neurotransmitter glutamate, but this remains to be determined. The hypothesis of this study was that cerebral levels of organic osmolytes are decreased during pregnancy, and that this decrease is even more pronounced in women with preeclampsia...
February 3, 2018: American Journal of Hypertension
Alexander E P Heazell, Tomasina Stacey, Louise M O'Brien, Edwin A Mitchell, Jane Warland
Changes in fetal movement are associated with increased risk of stillbirth after 28 weeks of pregnancy. The majority of studies have focussed on maternal perception of reduced fetal movements, which is associated with stillbirth via placental dysfunction. Recent studies have also described an association between a single episode of excessive fetal movements and late stillbirth. We present a hypothesis that a sudden episode of excessive fetal activity indicates fetal compromise relating to underlying disturbance of the in utero environment, which if it persists can lead to fetal death...
February 2018: Medical Hypotheses
Rangan Srinivasaraghavan, Narayanan Parameswaran, Deborah Mathis, Celine Bürer, Barbara Plecko
Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female with homozygosity for the most prevalent ALDH7A1 missense mutation, c.1279G > C; p.Glu427Gln in exon 14. The diagnosis was established along familial cosegregation analysis for an affected offspring, that had neonatal pyridoxine responsive seizures and had been found to be compound heterozygous for c...
February 5, 2018: Neuropediatrics
Keling Wang, Xiaopan Chen, Jie Liu, Li-Ping Zou, Wenke Feng, Lu Cai, Xiaoyang Wu, Shao-Yu Chen
Prenatal ethanol exposure is known to cause neurodevelopmental disorders. While high prevalence of epilepsy is observed among the children whose mothers abused alcohol during pregnancy, the results from animal studies are conflicting. Here, we investigated whether embryonic exposure to ethanol can increase the susceptibility to pentylenetetrazole (PTZ)-induced seizures in larval zebrafish. Embryos at 3 hours post-fertilization (hpf) were exposed to ethanol at the concentrations ranging from 0.25% to 1% for 21 hours...
January 30, 2018: Scientific Reports
Gonçalo Miguel Peres, Melissa Mariana, Elisa Cairrão
Pre-eclampsia and eclampsia are two hypertensive disorders of pregnancy, considered major causes of maternal and perinatal death worldwide. Pre-eclampsia is a multisystemic disease characterized by the development of hypertension after 20 weeks of gestation, with the presence of proteinuria or, in its absence, of signs or symptoms indicative of target organ injury. Eclampsia represents the consequence of brain injuries caused by pre-eclampsia. The correct diagnosis and classification of the disease are essential, since the therapies for the mild and severe forms of pre-eclampsia are different...
January 17, 2018: Journal of Cardiovascular Development and Disease
Richard J Bodnar
This paper is the thirty-ninth consecutive installment of the annual review of research concerning the endogenous opioid system. It summarizes papers published during 2016 that studied the behavioral effects of molecular, pharmacological and genetic manipulation of opioid peptides, opioid receptors, opioid agonists and opioid antagonists. The particular topics that continue to be covered include the molecular-biochemical effects and neurochemical localization studies of endogenous opioids and their receptors related to behavior, and the roles of these opioid peptides and receptors in pain and analgesia, stress and social status, tolerance and dependence, learning and memory, eating and drinking, drug abuse and alcohol, sexual activity and hormones, pregnancy, development and endocrinology, mental illness and mood, seizures and neurologic disorders, electrical-related activity and neurophysiology, general activity and locomotion, gastrointestinal, renal and hepatic functions, cardiovascular responses, respiration and thermoregulation, and immunological responses...
March 2018: Peptides
Suzanne Chartier, Caroline Alby, Lucile Boutaud, Sophie Thomas, Nadia Elkhartoufi, Jelena Martinovic, Josseline Kaplan, Alexandra Benachi, Didier Lacombe, Pascale Sonigo, Séverine Drunat, Michel Vekemans, Joël Agenor, Férechté Encha Razavi, Tania Attie-Bitach
BACKGROUND: The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. CASE: A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed...
January 22, 2018: Birth Defects Research
Xinjia Han, Qian Huang, Lei Liu, Xiaoyan Sha, Bihui Hu, Huishu Liu
Eclampsia is a hypertensive disorder of pregnancy that is defined by the new onset of grand mal seizures on the basis of pre-eclampsia. Until now, the mechanisms underlying eclampsia were poorly understood. Brain edema is considered a leading cause of eclamptic seizures; aquaporins (AQP4 and AQP9), the glial water channel proteins mainly expressed in the nervous system, play an important role in brain edema. We studied AQP4 and AQP9 expression in the hippocampus of pre-eclamptic and eclamptic rats in order to explore the molecular mechanisms involved in brain edema...
January 19, 2018: International Journal of Molecular Sciences
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
Maryam Mahmoodkhani, Ehsan Saboory, Shiva Roshan-Milani, Negar Azizi, Mojtaba Karimipour, Yosef Rasmi, Zafar Gholinejad
Many studies have found that stress during pregnancy is linked to an increased incidence of epileptic behaviors and reproductive disorders. However, few works have investigated the effect of pregestational stress on seizure susceptibility in the offspring. We investigated the effect of pregestational stress on epileptic behaviors in the offspring as well as fertility rate in dams. The male and female rats were randomly divided into four groups to form a combination of control and stressed groups for each sex...
January 3, 2018: Epilepsy & Behavior: E&B
Laurent M Willems, Johann Philipp Zöllner, Esther Paule, Susanne Schubert-Bast, Felix Rosenow, Adam Strzelczyk
Eslicarbazepine acetate (ESL) is a third-generation antiepileptic drug (AED) approved for adjunctive treatment in adults, children, and adolescents with focal-onset seizures. Recently ESL was approved for initial monotherapy in adults. The intention of this article is to review current evidence for ESL and to summarise its pharmacological profile in comparison to other AEDs of the dibenzazepine group. Areas covered: We performed a systematic literature search in electronic databases (MEDLINE database, Cochrane Central Register of Controlled Trials, Excerpta Medica dataBASE) using a combined search strategy including the following keywords: eslicarbazepine, epilepsy and seizure...
December 29, 2017: Expert Review of Clinical Pharmacology
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
Jian Zhang, Yiting Hu, Jimin Zheng, Juncha Gao, Hongtao Hou, Na Liu, Yuzhen Wang
Acute intermittent porphyria (AIP) is a rare inherited disorder of heme metabolism. It has the ability to trigger posterior reversible encephalopathy syndrome (PRES), a rare acute neurologic condition that is characterized by acute neurological symptoms. Pregnancy may induce AIP attacks. The present report describes the case of a pregnant woman with AIP. The patient was treated with heme-arginate during pregnancy and successfully delivered a healthy baby. Following delivery, the patient presented with PRES and experienced generalized seizures...
December 2017: Experimental and Therapeutic Medicine
A Kvernadze, N Tatishvili, T Kipiani, G Lomidze
West syndrome hasn't been thoroughly investigated in Georgia. The purposes of our study were a) to assess the clinical and etiological peculiarities of West syndrome, based on MRI data and its relation to the long-term outcome; b) to assess the evolution of West syndrome and its relation to patient characteristics; c) to compare the efficacies of treatments with ACTH and antiepileptic drugs (AEDs); d) to evaluate the neuropsychological outcome after 12 and 24 months and their early predictors. We evaluated 31 patients (17 male, 14 female) with infantile spasms...
November 2017: Georgian Medical News
Tamirat Moges, Yemisirach Shiferaw, Tigist Heye
Background: A rare but reversible cause of dilated cardiomyopathy occurs in infants born to vitamin D deficient mothers due to hypocalcaemia. Case Report: We report a case of dilated cardiomyopathy due to hypocalcaemia secondary to maternal vitamin D deficiency in an infant presented with seizure disorder and heart failure. This was a four-month old female infant with respiratory distress and acute heart failure. The cause of her cardiac failure was dilated cardiomyopathy...
May 2017: Ethiopian Journal of Health Sciences
Piyumi Sachindra Alwis Wijewickrama, Rohini Weerakoon
BACKGROUND: Melioidosis is an established endemic infection in Sri Lanka, caused by Burkholderia pseudomallei, a gram negative bacterium distributed in saprophytes in soil and surface water. Main mode of transmission is via percutaneous inoculation. Pneumonia is the most common presentation in acute disease. CASE PRESENTATION: We report a 33 year old previously healthy Sinhalese female with an occupational exposure to surface water in paddy fields, who was on postpartum day 6 following an uncomplicated pregnancy and delivery via an elective caesarian section...
November 29, 2017: BMC Research Notes
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