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1.
Acta Neurochir Suppl ; 127: 21-25, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31407058

RESUMO

Epilepsy is a significant worldwide public health problem that leads to reduced quality of life and negative psychosocial consequences and significantly increases mortality rates in those who are affected. The development of epilepsy from subarachnoid hemorrhage (SAH) has an important negative impact on long-term survival, functional status, and cognitive recovery in patients following aneurysmal rupture. Anticonvulsant medication (AED) administration to prevent the development of epilepsy following SAH is controversial, and studies to date have not shown effectiveness of AED use as prophylaxis. This paper reviews the pathophysiology of SAH in the development of epilepsy, the scope of the problem of epilepsy related to SAH, and the studies that have evaluated AED administration as prophylaxis for seizures and epilepsy.


Assuntos
Epilepsia , Hemorragia Subaracnóidea , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Epilepsia/etiologia , Humanos , Qualidade de Vida , Convulsões , Hemorragia Subaracnóidea/complicações , Hemorragia Subaracnóidea/fisiopatologia
2.
BMJ ; 367: l5464, 2019 11 11.
Artigo em Inglês | MEDLINE | ID: mdl-31712247

RESUMO

The studyLyttle MD, Rainford NEA, Gamble C, et al. Levetiracetam versus phenytoin for second-line treatment of paediatric convulsive status epilepticus (EcLiPSE): a multicentre, open-label, randomised trial. Lancet 2019;393:2125-34.This trial was funded by the NIHR Health Technology Assessment Programme (project number 12/127/134).To read the full NIHR Signal, go to https://discover.dc.nihr.ac.uk/content/signal-000790/levetiracetam-vs-phenytoin-in-stopping-childrens-prolonged-epileptic-seizures.


Assuntos
Epilepsia , Estado Epiléptico , Criança , Humanos , Levetiracetam , Fenitoína , Convulsões
3.
Zhonghua Er Ke Za Zhi ; 57(11): 830-836, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665836

RESUMO

Objective: To summarize the clinical and genetic features of ß-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children's Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results: Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions: The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.


Assuntos
Proteínas de Transporte/genética , Epilepsia/genética , Doenças Neurodegenerativas/genética , China , Eletroencefalografia , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , Masculino , Doenças Neurodegenerativas/diagnóstico por imagem , Estudos Retrospectivos , Convulsões
4.
Zhonghua Er Ke Za Zhi ; 57(11): 844-851, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665838

RESUMO

Objective: To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy. Methods: Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children's Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ(2) test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group. Results: Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group (t=1.662, 0.860; P=0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ(2)=2.794, 0.164, 3.380; P=0.095, 0.686, 0.066). Conclusions: The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.


Assuntos
Epilepsia/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Doenças Mitocondriais/diagnóstico por imagem , Anticonvulsivantes/uso terapêutico , Criança , Epilepsia/tratamento farmacológico , Epilepsia/genética , Feminino , Humanos , Masculino , Doenças Mitocondriais/genética , Fenótipo , Estudos Retrospectivos , Convulsões
5.
Zhonghua Er Ke Za Zhi ; 57(11): 857-862, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665840

RESUMO

Objective: To analyze the clinical characteristics of patients with PCDH19-female limited epilepsy (PCDH19-FE). Methods: The clinical data of 60 female epilepsy patients with PCDH19 gene heterozygous variations at the Department of Pediatrics, Peking University First Hospital from October 2007 to December 2018 were collected and analyzed retrospectively, their clinical manifestations, accessory examination and follow-up treatment were summarized. Results: Data of a total of 60 cases of PCDH19-FE were collected. The seizure onset occurred between 4 and 42 months of age (median: 11 months of age). Focal seizures occurred in 47 patients (78%), generalized tonic-clonic seizures (GTCS) occurred in 30 patients (50%), and other rare types of seizures included atypical absence, myoclonic, clonic, tonic, and atonic seizures. Two or more seizures types existed in 24 patients (40%), and seven patients (12%) had attacks of status epilepticus. Sensitivity to fever was observed in 47 out of them (78%) and clustering of seizures as found in all patients. During the interictal phase, focal discharges were monitored in 22 cases (22/45, 49%), multifocal discharges in 12 cases (12/45, 27%), widely discharging in 2 cases (4%), and both focal and widely discharging in 9 cases (20%). Clinical seizures were detected in 30 patients during the electroencephalogram (EEG) recording, including focal seizures in 22 cases, GTCS seizures in 8 cases, tonic seizure in three cases, myoclonic seizure followed by GTCS in one case, and two types of seizures in four cases. Before seizure onset, 57 patients had normal development and three patients had delayed language development. After seizure onset, varied degrees of intelligence disability were present in 38 cases (63%), language delay in 36 cases (60%), and gait instability in 10 cases (17%). Autistic features occurred in 17 cases (28%); and other behavioral problems like learning difficulties, personality, or emotional disorders existed in 33 cases (55%). Age at last follow-up ranged from one year and 3 months to 22 years and 3 months of age, 17 patients (28%) were seizure-free for more than 2 years (5 to 22 years at the last follow-up). The efficiency of antiepileptic drugs were 65% (33/51) in sodium valproate, 63% (27/43) in levetiracetam and 59% (20/34) in topiramate. Conclusions: The clinical features of PCDH19-FE are characterized by clustering of seizures, focal seizures in most cases, sensitivity to fever mostly, focal discharges principally in EEG, varied degrees of intellectual disability or movement disorder, combined with autism spectrum disorders in partial and high efficiency in sodium valproate or levetiracetam treatment.


Assuntos
Caderinas/genética , Epilepsias Mioclônicas/genética , Epilepsia/genética , Convulsões/genética , Adolescente , Transtorno do Espectro Autista , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/fisiopatologia , Feminino , Humanos , Lactente , Mutação , Estudos Retrospectivos , Convulsões/fisiopatologia , Adulto Jovem
6.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 44(8): 885-891, 2019 Aug 28.
Artigo em Chinês | MEDLINE | ID: mdl-31570675

RESUMO

OBJECTIVE: To evaluate the impact of admission diagnosis on seizure outcome in patients with autoimmune epilepsy (AE).
 Methods: We conducted a retrospective study on 40 AE patients at Department of Neurology, Xiangya Hospital, Central South University from Jan. 1st, 2017 to Nov. 21st, 2018. According to their admission diagnosis, these patients were further assigned into 2 groups: An AE diagnosed group and an AE undiagnosed group. Demographic data, clinical characteristics, cerebrospinal fluid (CSF), electroencephalogram, and brain imaging were compared between the 2 groups. Favorable seizure outcome was defined as >50% reduction of seizure frequency at the first follow-up. The impact of admission diagnosis on seizure outcome of AE patients was analyzed.
 Results: The ages of 40 AE patients were (33.23±16.41) years, comprising 19 males and 21 females. No significant difference was found between the AE diagnosed group and the AE undiagnosed group in gender, age, central nervous system-specific Ab profile, CSF, and brain imaging. Duration of symptom onset to Ab detection was significantly longer in the AE undiagnosed group than that in the AE diagnosed group (P<0.01). Duration of symptom onset to immunotherapy was also significantly longer in the AE undiagnosed group than that in the AE diagnosed group (P<0.001). There were more patients with favorable seizure outcome in the AE diagnosed group than the AE undiagnosed group (P<0.05).
 Conclusion: Admission diagnosis for patients with AE is associated with seizure outcome after immunotherapy. For adult-onset epilepsy or epilepsy with unknown etiology, the diagnosis of AE should be considered. Early diagnosis of AE and prompt initiation of immunosuppressive treatment are crucial to increase the likelihood of achieving favorable seizure outcome.


Assuntos
Epilepsia , Adolescente , Adulto , Eletroencefalografia , Feminino , Humanos , Imunoterapia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Convulsões , Adulto Jovem
7.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 44(8): 892-897, 2019 Aug 28.
Artigo em Chinês | MEDLINE | ID: mdl-31570676

RESUMO

OBJECTIVE: To analyze clinical features of mah-jong reflex epilepsy, and to explore the underlying mechanisms.
 Methods: The clinical data of 15 patient (a study group), who visited in the outpatient department in the Third Xiangya Hospital, Central South University from 2016 to 2018, were collected and analyzed. The clinical data included disease history, 24 h- electroencephalography (EEG) and magnetic resonance imaging (MRI) scan. Next, previous 84 case (a literature group) reports published in the past 20 years were searched and compared.
 Results: Both groups of mah-jong reflex epilepsy were predominant in middle-aged men, with onset ages of (44.53±10.58) and (41.48±17.85) years old, respectively. In the study group, time interval usually lasted (4.00±2.45) h from starting play mah-jong to seizure attack, 73.3% patients complained mental fatigue before seizure attack, and 93.3% of the patients were described to have general tonic-clonic seizure. Few positive result was discovered in auxiliary examination, and the percentage was 9.3% in EEG, while no positive outcome was seen in head MRI. There were no significant differences in gender, age of onset, duration of playing mah-jong before attack, type of attack, and changes of head MRI between the 2 groups (all P>0.05).
 Conclusion: Mental fatigue after long-time mah-jong playing and cognitive dysfunction might be the potential triggers in mah-jong reflex epilepsy.


Assuntos
Epilepsia Reflexa , Adulto , Eletroencefalografia , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Convulsões
8.
JAMA ; 322(13): 1315, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31573629
9.
JAMA ; 322(13): 1315-1316, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31573635
10.
N Engl J Med ; 381(17): 1644-1652, 2019 10 24.
Artigo em Inglês | MEDLINE | ID: mdl-31597037

RESUMO

Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient. Proof-of-concept experiments in cell lines from the patient served as the basis for launching an "N-of-1" study of milasen within 1 year after first contact with the patient. There were no serious adverse events, and treatment was associated with objective reduction in seizures (determined by electroencephalography and parental reporting). This study offers a possible template for the rapid development of patient-customized treatments. (Funded by Mila's Miracle Foundation and others.).


Assuntos
Proteínas de Membrana Transportadoras/genética , Mutagênese Insercional , Lipofuscinoses Ceroides Neuronais/tratamento farmacológico , Lipofuscinoses Ceroides Neuronais/genética , Oligonucleotídeos Antissenso/uso terapêutico , Medicina de Precisão , Doenças Raras/tratamento farmacológico , Biópsia , Criança , Desenvolvimento Infantil , Descoberta de Drogas , Drogas em Investigação/uso terapêutico , Eletroencefalografia , Feminino , Humanos , Testes Neuropsicológicos , RNA Mensageiro , Convulsões/diagnóstico , Convulsões/tratamento farmacológico , Pele/patologia , Sequenciamento Completo do Genoma
11.
Rev Assoc Med Bras (1992) ; 65(9): 1188-1192, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31618336

RESUMO

OBJECTIVE: We aimed to explore the effects of neuropeptides ghrelin, obestatin, and vasoactive intestinal peptide (VIP) on seizures and plasma concentrations of neuroinflammation biomarkers including calcitonin gene-related peptide (CGRP), substance-P (SP), and interleukin-1 beta (IL-1ß) in pentylenetetrazol-induced seizures in rats. METHODS: Ghrelin (80 µg/kg), obestatin (1 µg/kg), VIP (25 ng/kg) or saline were administered to rats intraperitoneally 30 min before pentylenetetrazole (PTZ, 50 mg/kg) injections. Stages of epileptic seizures were evaluated by Racine's scale, and plasma CGRP, SP, and IL-1ß concentrations were measured using ELISA. RESULTS: Both obestatin and VIP shortened onset-time of generalized tonic-clonic seizure, respectively, moreover VIP also shortened the onset-time of first myoclonic-jerk induced by PTZ. While PTZ increased plasma CGRP, SP and IL-1ß concentrations, ghrelin reduced the increases evoked by PTZ. While VIP further increased PTZ-evoked CGRP levels, it diminished IL-1ß concentrations. However, obestatin did not change CGRP, SP, and IL-1ß concentrations. CONCLUSION: Our results suggest that ghrelin acts as an anticonvulsant, obestatin acts as a proconvulsant, and VIP has dual action on epilepsy. Receptors of those neuropeptides may be promising targets for epilepsy treatment.


Assuntos
Convulsivantes/efeitos adversos , Neuropeptídeos/efeitos dos fármacos , Pentilenotetrazol/efeitos adversos , Hormônios Peptídicos/farmacologia , Convulsões/induzido quimicamente , Animais , Biomarcadores/sangue , Peptídeo Relacionado com Gene de Calcitonina/sangue , Peptídeo Relacionado com Gene de Calcitonina/efeitos dos fármacos , Modelos Animais de Doenças , Grelina/farmacologia , Inflamação , Interleucina-1beta/sangue , Interleucina-1beta/efeitos dos fármacos , Masculino , Mioclonia , Distribuição Aleatória , Ratos Wistar , Convulsões/metabolismo , Substância P/sangue , Substância P/efeitos dos fármacos , Fatores de Tempo , Peptídeo Intestinal Vasoativo/farmacologia
12.
Zhonghua Er Ke Za Zhi ; 57(10): 780-785, 2019 Oct 02.
Artigo em Chinês | MEDLINE | ID: mdl-31594065

RESUMO

Objective: To summarize the clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation. Methods: The clinical data, gene variation and treatment outcome of 12 children with focal epilepsy caused by GATOR1 complex gene variation admitted to Beijing Children's Hospital Affiliated to Capital Medical University from June 2016 to October 2018 were retrospectively analyzed. Results: There were 7 males and 5 females in 12 cases. The epilepsy onset age was 5.5 (3.0, 12.0) months, and from 11 days to 16 months of age. The epileptic seizure types were all focal motor seizures, and one case combined with epileptic spasms. The frequency of seizures in all patients was more than one time per day. Seven cases had frontal lobe epilepsy and two cases had lateral temporal lobe epilepsy. One case had a family history of febrile seizures and two had a family history of suspicious epilepsy. Epileptic form discharges were observed in 9 patients during the interictal phase by electroencephalograms (EEG), and all of them were focal discharges. Eight cases had clinical seizures detected by EEG, in 4 of whom the seizures were originated in frontal region. There were no abnormalities in brain magnetic resonance imaging in 11 cases whereas 1 case had malformation of cortical development of left frontal lobe. Eight patients had DEPDC5 gene variation, one had NPRL2 gene variation, three had NPRL3 gene variation. One case had de novo variation and the other 11 had hereditary variation. There were 11 types of gene variation, including 5 nonsense variations, 3 missense variations, 2 frame shift variations and 1 in frame deletion variation. There was no clear relationship between the clinical phenotype and the genotype. During the follow-up period from 6 months to 2 years and 6 months, 6 cases had seizure control, 3 of them were controlled by oxcarbazepine. The other 6 cases had drug-refractory epilepsy, 2 of them failed with vagus nerve stimulation and ketogenic dietary therapy as well, meanwhile combined with mental retardation. Conclusions: GATOR1 complex gene variation can lead to genetic focal epilepsy, which usually has early onset with frequent seizures. Most of the patients have focal epileptic form discharges on EEG, and there is usually no structural lesion in brain imaging. Most of the patients have hereditary loss-of-function variations. Approximately half of cases are drug-resistant epilepsy.


Assuntos
Epilepsias Parciais/genética , Proteínas Ativadoras de GTPase/genética , Proteínas Repressoras/genética , Proteínas Supressoras de Tumor/genética , Grupo com Ancestrais do Continente Asiático/genética , Eletroencefalografia , Epilepsias Parciais/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Convulsões/complicações , Convulsões/genética
13.
Niger Postgrad Med J ; 26(4): 216-222, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31621661

RESUMO

Background: Neonatal sepsis-related mortalities are the outcome of a complex interaction of maternal-foetal colonisation, transplacental immunity and physical and cellular defence mechanisms of neonates. Objective: The objective of this study was to evaluate the risk factors of mortality in outborn neonatal sepsis. Materials and Methods: A 1-year prospective observational study was undertaken at a tertiary care centre. All referred neonates with maternal and neonatal risk factors of sepsis were enrolled. Blood culture, sepsis screen and other relevant investigations were performed. Results: The mortality rate of neonatal sepsis among outborns was 38.24%. The common presentations of these neonates were respiratory distress, lethargy and hypothermia. On univariate analysis, significant risk factors for mortality included male sex (P = 0.05), weight on admission <1500 g (P < 0.001), hypothermia (P = 0.003), respiratory distress (P = 0.04), cyanosis (P = 0.001), convulsions (P = 0.02), prolonged capillary refill time (P < 0.001), thrombocytopenia (P < 0.001), abnormal radiological finding (P = 0.01), cerebrospinal fluid cellularity (P = 0.002) and positive C-reactive protein (P < 0.001). Maternal factors such as hypertension in pregnancy (P = 0.001) and antepartum haemorrhage (P = 0.03) were associated with statistically significant mortality. Gestational age (odds ratio [OR]: 0.49, confidence interval [CI]: 0.26-0.90, P = 0.02), weight on admission (OR: 1.57, CI: 1.08-2.27, P = 0.01), age at admission (OR: 0.89, CI: 0.78-0.99, P = 0.04), distance travelled with neonate (OR: 1.01, CI: 1.00-1.01, P = 0.003), duration of hospital stay (OR: 0.69, CI: 0.63-0.74, P < 0.001), hypothermia (OR: 1.87, CI: 1.01-3.42, P = 0.04), convulsion (OR: 2.88, CI: 1.33-6.20, P = 0.007), cyanosis (OR: 2.39, CI: 1.07-5.35, P = 0.03) and prolonged capillary refill time (OR: 3.34, CI: 1.78-6.24, P < 0.001) were the independent predictors of mortality in neonatal sepsis. Conclusion: Gestational age; birth weight; long distance travelled with neonate and presentation with hypothermia, cyanosis, convulsions and prolonged capillary refill time were the independent risk factors for mortality in neonatal sepsis among outborns.


Assuntos
Sepse Neonatal/mortalidade , Peso ao Nascer , Sangue/microbiologia , Cianose , Feminino , Idade Gestacional , Humanos , Hipotermia , Incidência , Índia/epidemiologia , Recém-Nascido , Masculino , Sepse Neonatal/etiologia , Gravidez , Estudos Prospectivos , Fatores de Risco , Convulsões
14.
Medicine (Baltimore) ; 98(40): e17269, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31577718

RESUMO

This study examined the characteristics of norovirus (NoV) gastroenteritis associated with convulsions in children and its molecular epidemiology. From July 2006 through December 2015, NoV infection was confirmed by the genome detection using reverse transcriptase polymerase chain reaction. Viral genotyping with strain validation was achieved using sequence analyses with Basic Local Alignment Search Tool genome identification. The patients' clinical features were assessed retrospectively, focusing on convulsive disorders. The diagnosis of encephalitis followed the International Encephalitis Consortium. Seizures occurred in 52 (20.9%) of 249 NoV infections. GII.4 Den_Haag_2006b (n = 22, 42.3%) and GII.4 Sydney 2012 (n = 10, 19.2%) were major variants correlated with convulsions. Patient with convulsions tend to have GII.4 genotype infection (P < .001), short vomiting (≤2 days) (P < .001), and no fever (P = .002). Compared to GII.4 Den_Haag_2006b, the GII.4 Sydney 2012-associated convulsions had similar manifestations except without significant winter preponderance (P = .049). The NoV infection with convulsions had less febrile course, specific genotype (GII.4) infections, and with shorter symptom of vomiting. Continuous surveillance is important for uncommon disease associated with emerging NoV strain infections. The prevention of NoV diseases requires the development of vaccines targeting highly virulent variants.


Assuntos
Infecções por Caliciviridae/epidemiologia , Infecções por Caliciviridae/genética , Gastroenterite/epidemiologia , Convulsões/epidemiologia , Adolescente , Criança , Pré-Escolar , Encefalite/epidemiologia , Feminino , Febre/epidemiologia , Gastroenterite/virologia , Genótipo , Humanos , Lactente , Masculino , Epidemiologia Molecular , RNA Viral/genética , Estudos Retrospectivos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Estações do Ano , Análise de Sequência de DNA , Taiwan/epidemiologia
15.
Medicina (B Aires) ; 79 Suppl 3: 6-9, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603835

RESUMO

The objective was to describe the frequency, mode of presentation and characteristics of epilepsy in children with congenital hemiparesis (CH). It is a etrospective, descriptive and multicenter study, based on the collection of data from the clinical records of patients from 0 to 19 years with CH secondary to perinatal infarction in different centers of the community of Catalonia. A total of 310 children were included (55% males and 45% females), from a total of 13 centers in Catalonia. Average age of onset of the crises was 2 ± 1 year. Epilepsy was present in 29.5% (n = 76), among which the most frequent vascular subtype was arterial presumed perinatal ischemic stroke (51.3%), followed by neonatal arterial ischemic stroke (18.4%), periventricular venous infarction (15.8%), neonatal hemorrhagic stroke (10.5%) and neonatal cerebral sinovenous thrombosis (3.9%). Semiology of the most frequent seizures was motor focal in 82%, followed by focal motor with secondary bilateralization in 23%, focal discognitive in 13.5%, generalized by 2% and spasms in 6.5%. The 67.3% were controlled with monotherapy and the drugs used were valproate, levetiracetam or carbamazepine. The antecedent of electrical status during sleep was identified in 3 patients, all associated with extensive lesions that included the thalamus. Of the total number of children with epilepsy, 35% began with neonatal seizu res in the first 3 days of life. The 30% of children with perinatal stroke and CH present a risk of epilepsy during childhood. Children with ischemic strock have the highest risk, so they will require a follow-up aimed at detecting prematurely the epilepsy and start a treatment.


Assuntos
Epilepsia/etiologia , Paresia/congênito , Paresia/etiologia , Acidente Vascular Cerebral/complicações , Adolescente , Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Criança , Pré-Escolar , Epilepsia/tratamento farmacológico , Feminino , Humanos , Lactente , Recém-Nascido , Levetiracetam/uso terapêutico , Masculino , Estudos Retrospectivos , Fatores de Risco , Convulsões/etiologia , Espanha , Ácido Valproico/uso terapêutico , Adulto Jovem
16.
Medicina (B Aires) ; 79 Suppl 3: 20-24, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603838

RESUMO

Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.


Assuntos
Epilepsia/etiologia , Doenças Metabólicas/complicações , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/terapia , Humanos , Recém-Nascido , Convulsões/classificação , Convulsões/etiologia , Convulsões/terapia
17.
J Forensic Sci ; 64(6): 1950-1952, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31643086

RESUMO

4-bromo-2,5-dimethoxyphenethylamine (2C-B) is a designer drug. In Europe, 2C-B is easily obtained and used for recreational purposes. It is known for its stimulating effects similar to those of 3,4-methylenedioxymethamphetamine, although in higher doses it has more hallucinogenic effects. Here, we report a case of 2C-B ingestion, confirmed by liquid chromatography-tandem mass spectrometry, in an 18-year-old man. The neurological consequences were severe, including the development of serotonin syndrome and severe brain edema. Supportive therapy resulted in a stable condition, although, after several months, the patient still suffered from severe neurological impairment due to the drug-induced toxicity. This case showed that 2C-B could not be identified with the drugs of abuse screening routinely used in Dutch hospitals. The use of 2C-B carries many risks, with potentially profound neurological damage, that both consumers and healthcare physicians are unaware of.


Assuntos
Edema Encefálico/induzido quimicamente , Drogas Desenhadas/efeitos adversos , Dimetoxifeniletilamina/efeitos adversos , Convulsões/induzido quimicamente , Síndrome da Serotonina/induzido quimicamente , Adolescente , Cromatografia Líquida , Humanos , Masculino , Transtornos Relacionados ao Uso de Substâncias/complicações , Espectrometria de Massas em Tandem
18.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 48(3): 303-309, 2019 May 25.
Artigo em Chinês | MEDLINE | ID: mdl-31496163

RESUMO

OBJECTIVE: To determine the correlation of phosphorylated ribosomal S6 protein (P-S6) content in blood and brain tissue in mice and rats with seizure. METHODS: Seizure models were induced by intraperitoric injection of kainic acid (KA) in C57BL/mice and SD rats. Flow cytometry was used to detect the content of P-S6 in blood; Western blot was used to detect the expression of P-S6 in brain tissues. The correlation between P-S6 expression in blood and in brain tissue was examine by Pearson analysis, and the correlation between P-S6 expression in blood and the severity of seizure was also observed. RESULTS: Western blotting analysis showed that the expression of P-S6 was significantly increased in peripheral blood and brain tissue in mice 1 h after KA-induced seizure,and the expression levels increased to (1.49±0.45) times (P<0.05) and (2.55±0.66) times (P <0.01) of the control group, respectively. Flow cytometry showed that the positive percentage and average fluorescence intensity of P-S6 in the blood of mice increased significantly 1 h after KA-induced seizures (P<0.01), which was consistent with the expression of P-S6 in brain tissue (r=0.8474, P<0.01). Flow cytometry showed that the average fluorescence intensity of P-S6 in blood increased from 14.89±9.75 to 52.35±21.72 (P<0.01) in rats with seizure, which was consistent with the change of P-S6 in brain tissue (r=0.9385, P<0.01). Rats with higher levels of seizure were of higher levels of P-S6 in peripheral blood. CONCLUSIONS: Consistent correlation of P-S6 expression is demonstrated in peripheral blood and in brain tissue after KA-induced seizure, suggesting that the expression of P-S6 in blood can accurately reflect the changes of mTOR signaling pathway in brain tissue.


Assuntos
Encéfalo , Regulação da Expressão Gênica , Ácido Caínico , Convulsões , Animais , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Regulação da Expressão Gênica/efeitos dos fármacos , Camundongos , Camundongos Endogâmicos C57BL , Fosforilação , Ratos , Ratos Sprague-Dawley , Convulsões/sangue , Convulsões/induzido quimicamente , Convulsões/fisiopatologia
19.
Diving Hyperb Med ; 49(3): 167-174, 2019 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-31523791

RESUMO

INTRODUCTION: Hyperbaric oxygen therapy (HBOT) involves the risk of central nervous system oxygen toxicity (CNS-OT), including seizures in patients breathing oxygen at pressures ≥ 2 atmospheres absolute. This study aimed to determine the seizure frequency and assess the clinical benefit of a 5-minute air-break (5´-AIRBK). METHODS: Twenty-year (1999-2018) retrospective analysis of all consecutive treatments with HBOT. Medical records were reviewed to determine patient demographics, comorbidities, HBOT indications, and seizure characteristics and timing. Seizure frequency was compared before and after incorporating a 5´-AIRBK in the treatment protocol. Chi-square testing was performed using SPSS (version 24.0); P < 0.05 was accepted as statistically significant. RESULTS: We evaluated 188,335 HBOT sessions (74,255 before versus 114,080 after introducing a 5´-AIRBK). A total of 43 seizures were observed: 29 before and 14 after the 5´-AIRBK introduction (3.9 versus 1.2 per 10,000 treatments; P < 0.0001). Seizures occurred after a median of 57 (range 15-85) minutes following compression and after a median of 21 HBOT sessions (1-126). Patients experiencing seizures were undergoing treatment for: diabetic ulcer (n = 11); acute traumatic peripheral ischaemia (ATPI) (n = 6); non-diabetic ulcer (n = 5); sudden sensorineural hearing loss (n = 5); chronic refractory osteomyelitis (n = 5); radionecrosis (n = 3); necrotising fasciitis (NF) (n = 2); and haemorrhagic cystitis after allogeneic bone marrow transplantation (n = 1). ATPI and NF had a considerably higher relative frequency of seizures compared to other indications. CONCLUSIONS: A statistically significant lower seizure frequency was achieved with a 5´-AIRBK. Assessing and defining the appropriate patient/treatment profile can be useful to minimise the risk of CNS-OT.


Assuntos
Oxigenação Hiperbárica , Convulsões/epidemiologia , Perda Auditiva Súbita , Humanos , Oxigenação Hiperbárica/efeitos adversos , Oxigênio/efeitos adversos , Estudos Retrospectivos , Convulsões/etiologia
20.
Zhonghua Yi Xue Za Zhi ; 99(33): 2615-2618, 2019 Sep 03.
Artigo em Chinês | MEDLINE | ID: mdl-31510723

RESUMO

Objective: To explore the clinical features and genetic causes of autism spectrum disorder (ASD) patients with epilepsy. Methods: The clinical data of five patients with ASD and epilepsy admitted to Xuanwu Hospital between September 2017 and September 2018 were collected, including medical history, intelligence level, developmental level, physical examination, neuroimaging and electroencephalogram. High-throughput whole-genome sequencing was applied to five patients and their parents. Results: Of five patients, four were male and one was female. All five patients had mild mental retardation, and one patient had significant growth retardation and craniofacial deformity. The average epilepsy onset age was 6.3 years old (7 months to 16 years). The main epileptic type was tonic-clonic seizure with abnormal EEG results. All patients have a favorable response to anti-epileptic drugs. Whole-exome sequencing (WES) revealed copy number variation in all 5 patients. Among them, 3 cases were reported to be pathogenic, and 2 cases were not reported (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion). Conclusions: The results of current study support that autism spectrum disorders with seizures is often associated with copy number variations, such as Williams-Beuren region duplication syndrome, chromosome 15q11.2 duplication syndrome and chromosome 15q11.2 deletion syndrome. We reported two novel copy number variations (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion) in two autism spectrum disorder patients with epileptic seizures.


Assuntos
Transtorno do Espectro Autista , Epilepsia , Adolescente , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , Aberrações Cromossômicas , Cromossomos Humanos , Variações do Número de Cópias de DNA , Epilepsia/complicações , Feminino , Humanos , Lactente , Masculino , Convulsões
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