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1.
Cardiol Young ; 33(9): 1556-1560, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36047305

RESUMO

Studies have demonstrated an association between CHD and neurodevelopmental delay. This delay is associated with many factors like reduced blood flow and oxygen, cardiac catheterisations, and genetic factors. Apo E gene polymorphism is one of these genetic factors. This study aims to show the effect of Apo E gene polymorphism on neurodevelopmental process in children having CHD. A total of 188 children having CHD were admitted to the study. Apo E gene polymorphism of these patients was determined, and psychometric evaluation was performed. The relationship between psychometric test results and gene polymorphism was evaluated. This study shows that, similar to the literature, patients having cyanotic CHD have worse scores than acyanotic patients, and the children with CHD are under risk in terms of neuropsychiatric disorders. Other novel and important findings of this study were the lower verbal scores of ε2 allele carriers than ε4 carriers in Wechsler Intelligence Scale for Children-Revised group and the worse test score of patients having VSD than other acyanotic patients. Besides, some special disorders may be seen in this patient group.


Assuntos
Apolipoproteínas E , Cianose , Polimorfismo Genético , Criança , Humanos , Alelos , Apolipoproteínas E/genética , Heterozigoto
2.
Clin Genet ; 92(5): 534-539, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28295203

RESUMO

PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial magnetic resonance imaging. The Moroccan patient was homozygous for a novel missense c.1786C>T, p.Leu596Phe variant and the Romanian patient had 2 novel mutations; c.1898C>T, p.Ala633Val and c.1765_1768del, p.Ser589ThrfsTer76. Both of these patients conformed better to childhood onset PLAN with the age of onset at 4 and 7 years, respectively. Interestingly, all identified mutations were affecting the highly conserved patatin-like phospholipase domain of the PLA2G6 protein.


Assuntos
Predisposição Genética para Doença , Fosfolipases A2 do Grupo VI/genética , Mutação/genética , Distrofias Neuroaxonais/genética , Paraplegia Espástica Hereditária/genética , Sequência de Bases , Criança , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Linhagem , Adulto Jovem
3.
Mult Scler Relat Disord ; 91: 105811, 2024 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-39305566

RESUMO

BACKGROUND: To investigate the pregnancy-related issues in females with multiple sclerosis (MS) from Turkiye, Egypt, Kuwait, and Iran. METHODS: 1692 pregnancies of 701 females with MS were evaluated in this retrospective multicenter, international project. Demographics, clinical features, pregnancy outcomes, relapses, effects of exposure to disease-modifying drugs on pregnancy and fetus, and worries about pregnancy decisions were investigated. RESULTS: 85.9 % of females were diagnosed with relapsing-remitting multiple sclerosis. The mean age was 39.0 ± 9.0 years (min 20, max 68). The mean EDSS score was 2.26 ± 1.8. The number of conceptions was inversely correlated with the level of education with significance (p<0.05). Among the concerns related to pregnancy, 31.7 % pertain to disability progression, 14.4 % are associated with relapses, and 7.3 % involve the cessation of treatment. Additionally, 82.3 % of females with MS experienced no relapses during both pregnancy and the postpartum period. Most of the relapses (22.9 %) occurred in the postpartum period. Higher EDSS scores were detected in patients who have higher numbers of pre-MS period pregnancies (p= 0.042; r:0.2591). A similar correlation was found between the total number of pregnancies and higher EDSS levels (p=0.003, r:0.2614). Considering the relationship between EDSS score and the number of pregnancies after MS diagnosis, no significance was found (p = 0.595). The age at first pregnancy did not affect the onset age of MS. Significant positive correlation was found between the age of onset and the total number of pregnancies and pre-MS pregnancies. As the number of pregnancies increased, the disease onset was at a later age (correlation = 0.4258). CONCLUSION: Presence of pre-MS pregnancies increased the age of onset of MS and caused more disability. The reduction in the number of pregnancies following the diagnosis of MS was related with a consistent hesitancy among patients in this regard.

4.
J Med Econ ; 27(1): 109-125, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38085684

RESUMO

AIM: To evaluate the real-world comparative effectiveness and the cost-effectiveness, from a UK National Health Service perspective, of natalizumab versus fingolimod in patients with rapidly evolving severe relapsing-remitting multiple sclerosis (RES-RRMS). METHODS: Real-world data from the MSBase Registry were obtained for patients with RES-RRMS who were previously either naive to disease-modifying therapies or had been treated with interferon-based therapies, glatiramer acetate, dimethyl fumarate, or teriflunomide (collectively known as BRACETD). Matched cohorts were selected by 3-way multinomial propensity score matching, and the annualized relapse rate (ARR) and 6-month-confirmed disability worsening (CDW6M) and improvement (CDI6M) were compared between treatment groups. Comparative effectiveness results were used in a cost-effectiveness model comparing natalizumab and fingolimod, using an established Markov structure over a lifetime horizon with health states based on the Expanded Disability Status Scale. Additional model data sources included the UK MS Survey 2015, published literature, and publicly available sources. RESULTS: In the comparative effectiveness analysis, we found a significantly lower ARR for patients starting natalizumab compared with fingolimod (rate ratio [RR] = 0.65; 95% confidence interval [CI], 0.57-0.73) or BRACETD (RR = 0.46; 95% CI, 0.42-0.53). Similarly, CDI6M was higher for patients starting natalizumab compared with fingolimod (hazard ratio [HR] = 1.25; 95% CI, 1.01-1.55) and BRACETD (HR = 1.46; 95% CI, 1.16-1.85). In patients starting fingolimod, we found a lower ARR (RR = 0.72; 95% CI, 0.65-0.80) compared with starting BRACETD, but no difference in CDI6M (HR = 1.17; 95% CI, 0.91-1.50). Differences in CDW6M were not found between the treatment groups. In the base-case cost-effectiveness analysis, natalizumab dominated fingolimod (0.302 higher quality-adjusted life-years [QALYs] and £17,141 lower predicted lifetime costs). Similar cost-effectiveness results were observed across sensitivity analyses. CONCLUSIONS: This MSBase Registry analysis suggests that natalizumab improves clinical outcomes when compared with fingolimod, which translates to higher QALYs and lower costs in UK patients with RES-RRMS.


There are several medications used to treat people with relapsing remitting multiple sclerosis, such as interferon-based therapies (Betaferon/Betaseron (US), Rebif, Avonex, Extavia), glatiramer acetate (Copaxone), teriflunomide (Aubagio), and dimethyl fumarate (Tecfidera), collectively named BRACETD. Other treatments for multiple sclerosis (MS) have a narrower use, such as natalizumab (Tysabri) or fingolimod (Gilenya), among others.This study objective was to assess how well natalizumab and fingolimod helped treating MS (clinical effectiveness) and subsequently estimate what the cost of these treatments is in comparison to the benefit they bring to people with rapidly evolving severe MS that use them in the United Kingdom (UK) (cost-effectiveness).We used an international disease registry (MSBase), which collects clinical data from people with MS in various centers around the world to compare the effectiveness of natalizumab, fingolimod and BRACETD treatments. We used a technique called propensity score matching to obtain results from comparable patient groups. People treated with natalizumab had better disease control, namely with fewer relapses and higher improvement on their disability level, than patients on fingolimod or BRACETD. Conversely, there were no differences between each group of people on a measure called disability worsening.Based on these clinical results, we built an economic model that simulates the lifetime costs and consequences of treating people with MS with natalizumab in comparison with fingolimod. We found that using natalizumab was less costly and was more effective compared to using fingolimod in UK patients.


Assuntos
Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Humanos , Natalizumab/uso terapêutico , Cloridrato de Fingolimode/uso terapêutico , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Imunossupressores/uso terapêutico , Esclerose Múltipla/tratamento farmacológico , Análise de Custo-Efetividade , Análise Custo-Benefício , Medicina Estatal , Reino Unido
5.
Acta Neurol Scand ; 123(3): 181-6, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20497128

RESUMO

OBJECTIVE: To assess correlation between the prognosis and epidemiological, clinical, laboratory, electrophysiological findings in patients with Guillain-Barré syndrome (GBS). METHODS: We reviewed the medical records of 104 GBS patients who were hospitalized and followed up at our outpatient clinic during October 1997-November 2007. RESULTS: Guillain-Barré syndrome patients were followed up with a median period of 232 days. Full recovery or minor deficits were observed in 41% of patients in the first month, 71% in the third month, 86% in the sixth month and 92% in the first year. We found that there was a correlation between Medical Research Council (MRC) sum scores at admission, clinical subtypes, respiratory distress, interference pattern and prognosis. CONCLUSIONS: Demographic, clinical and electrophysiological findings of our GBS cases were highly similar to those of the previous reports. Two of our cases were presented with preceding tuberculosis infection, which was not reported before in the literature.


Assuntos
Eletrodiagnóstico/métodos , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Eletrofisiologia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico/métodos , Prognóstico , Estudos Retrospectivos , Adulto Jovem
6.
Pediatr Int ; 53(6): 944-9, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21752151

RESUMO

BACKGROUND: The aim of the present study was to determine language levels in twins and singletons born after at least 34 weeks gestation and without identifiable neurological abnormality and to evaluate whether in vitro fertilization (IVF) affects language development in twin pregnancies. METHODS: A prospective study of a large cohort of all children born between 1 January 2001 and 31 December 2003 was carried out at Gazi University Hospital. All live-born twin pairs in which both twins survived were identified, and a comparable sample of families with pairs of singletons were chosen. The Stanford-Binet Intelligence Scale Form and the translated Turkish form of the Peabody Picture Vocabulary Test were completed at 60 months. RESULTS: Even after excluding the most premature twins and those with diagnosable neurological damage, twins performed worse than singletons on language development tests. Twin girls had better scores than twin boys. A statistically significant difference was found between the scores of term and preterm twins. No significant difference was noted when compared according to birth order. Appropriate for gestational age (AGA) twins did better than small for gestational age (SGA) twins in the test scores. All twin girls did not differ from singleton girls, but all twin boys performed worse than singleton boys. Term twins had similar results with term singletons, but preterm twins had lower scores than preterm singletons. SGA singletons had better scores than SGA twins, while AGA twins and singletons did not differ. When the children were compared with regard to method of conception, IVF children had significantly lower scores on the tests than those in the spontaneous conception group. CONCLUSION: It is hoped that the present findings could lead to a more precise assessment of children for speech impairment and, above all, to more efficient preventive intervention. Whatever mechanisms are involved, the present results indicate that twins born as a result of IVF, are at a disadvantage in terms of language development in comparison with spontaneously conceived twins.


Assuntos
Desenvolvimento Infantil/fisiologia , Transtornos do Desenvolvimento da Linguagem/epidemiologia , Desenvolvimento da Linguagem , Gêmeos/psicologia , Adulto , Pré-Escolar , Feminino , Fertilização in vitro , Seguimentos , Idade Gestacional , Humanos , Incidência , Transtornos do Desenvolvimento da Linguagem/etiologia , Transtornos do Desenvolvimento da Linguagem/psicologia , Masculino , Gravidez , Gravidez de Gêmeos , Estudos Prospectivos , Fatores de Risco , Turquia/epidemiologia
7.
Epilepsy Behav ; 17(1): 56-63, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19913463

RESUMO

Epilepsy is one of the most common serious chronic brain disorders of childhood and carries a strong social stigma. It has been generally accepted that educational programs can be beneficial in reducing the stigma of a number of chronic diseases such as epilepsy. In this article, we describe the first Turkish survey of primary school students' knowledge of and attitudes toward epilepsy and the effect of an epilepsy education program on the understanding of epilepsy in schoolchildren attending three different upper-middle schools in the city of Ankara. The epilepsy education program was found to be associated with a significant increase in knowledge of and positive attitudes toward epilepsy. In addition, students at higher socioeconomic levels performed better on both pre- and posttests. This emphasizes the importance of an educational program and the need for continued information and support for education about epilepsy.


Assuntos
Epilepsia/epidemiologia , Epilepsia/psicologia , Educação em Saúde , Conhecimentos, Atitudes e Prática em Saúde , Serviços de Saúde Escolar , Adolescente , Fatores Etários , Criança , Escolaridade , Família/psicologia , Feminino , Humanos , Masculino , Relações Pais-Filho , Estudos Retrospectivos , Instituições Acadêmicas , Estudantes , Inquéritos e Questionários , Turquia/epidemiologia
8.
Epilepsy Behav ; 14(1): 71-7, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18778793

RESUMO

The main goal of this study was to evaluate knowledge of, perceptions of, and attitudes toward epilepsy and then to correlate knowledge with quality of life and stigmatization of children with epilepsy and their families. Specific questionnaires were administered to children aged 8 to 17 with epilepsy (n=220) and their parents (n=313). Poor school performance, less social support, less self-esteem, higher anxiety, greater stigmatization, and more depressive symptoms were documented in children who were less knowledgeable (P<0.05). Parents were found to be more knowledgeable about the antiepileptic drugs used, understanding both the effects and the side effects of the medications (P<0.05). Family activities were less restricted if they were more knowledgeable and these parents reported worrying less about their children (P<0.05). Knowledge about epilepsy is associated with less perceived stigmatization and social isolation, as well as fewer depressive symptoms and misperceptions.


Assuntos
Epilepsia/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Pais/psicologia , Qualidade de Vida , Adolescente , Atitude , Criança , Coleta de Dados , Interpretação Estatística de Dados , Depressão/epidemiologia , Depressão/psicologia , Epilepsia/epidemiologia , Feminino , Humanos , Masculino , Instituições Acadêmicas , Convulsões/psicologia , Autoimagem , Percepção Social , Apoio Social , Fatores Socioeconômicos , Estereotipagem , Inquéritos e Questionários , Turquia/epidemiologia
9.
Int J Tuberc Lung Dis ; 12(1): 50-6, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18173877

RESUMO

SETTING: A chest disease centre in Istanbul, Turkey. OBJECTIVE: The diagnostic accuracy of interferon-gamma-based assays for Mycobacterium tuberculosis infection may be improved by using lower cut-off values for the tuberculin skin testing (TST), QuantiFERON-TB Gold (QFT) and T-SPOT.TB (T-SPOT) assays. DESIGN: Three assays, TST, QFT and T-SPOT, were evaluated for their diagnostic performance with respect to different cut-off values. This evaluation was carried out in a comparative study involving 100 patients with untreated culture-confirmed cavitary pulmonary tuberculosis (TB) and 47 healthy subjects. RESULTS: The sensitivities of the assays were: TST 70%, QFT 78% and T-SPOT 83.5%, while their specificities were TST 35%, QFT 89.4% and T-SPOT 84.8%. Both QFT and T-SPOT were significantly more specific than TST (both P < 0.001), but were similiar to each other (P = 0.5). Receiver operating characteristic analysis revealed that a cut-off value of 0.818 IU/ml for QFT maximises specificity without significant loss of test sensitivity. Using lower cut-off values for T-SPOT and TST, however, also increased the sensitivity of the assay but resulted in a significant decrease in specificity. CONCLUSION: Lower cut-off values for TST, QFT and T-SPOT increased the sensitivity of each assay, but only with a lower cut-off value for QFT could specificity be maintained.


Assuntos
Antígenos de Bactérias/imunologia , Interferon gama/sangue , Mycobacterium tuberculosis/imunologia , Teste Tuberculínico , Tuberculina/imunologia , Tuberculose Pulmonar/diagnóstico , Adulto , Células Cultivadas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Curva ROC , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Tuberculose Pulmonar/microbiologia
10.
Turk J Pediatr ; 50(2): 160-6, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18664081

RESUMO

The study aimed to evaluate the level of perception, attitude, and knowledge of pediatric residents to attention-deficit/hyperactivity disorder (ADHD) by a questionnaire based on the Diagnostic and Statistical Manual of Mental Disorders (4th ed) diagnostic criteria. One hundred and fifty-six pediatric residents from university and state hospitals answered a four-step Likert type questionnaire form consisting of 43 questions regarding sociodemographic features, age, duration of residency, marital status, and general knowledge of ADHD, differential diagnosis, coexisting conditions, and management of ADHD. Of the residents, 127 (81.4%) stated that their knowledge on ADHD was deficient, and 123 (85.2%) reported that they did not know the protocol used in establishing the diagnosis. There was no statistically significant difference with respect to differential diagnosis and co-morbid conditions of ADHD between the two groups (university and state hospital) (p>0.05). 60.9% of the residents were aware of the adverse effects. We believe that pediatric resident education programs must include more intensive focus on the topics of behavioral and developmental neurology as well as common neuropsychiatric disorders, and that child psychiatry and child neurology rotations, within our current rotation systems in pediatric residency training, should be extended.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Conhecimentos, Atitudes e Prática em Saúde , Pediatria , Criança , Humanos , Internato e Residência , Inquéritos e Questionários , Turquia
11.
Eur J Pediatr Surg ; 17(1): 55-8, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17407023

RESUMO

Hydatid disease caused by Echinococcus granulosus often manifests as a slow growing cystic mass; it mainly affects the liver or lung and rarely other parts of the body such as the brain, heart, spleen, peritoneal cavity, or bone. Hydatid cysts of the musculoskeletal system are rare. Since the intramuscular hydatid cyst closely resembles a soft-tissue tumor on clinical examination, the preoperative radiological diagnosis is very important for the identification of the lesion prior to surgery. We describe a rare case of primary intramuscular hydatidosis in a child, together with its clinical presentation and radiological and histological findings. The treatment principles for hydatid cysts are also discussed.


Assuntos
Equinococose/diagnóstico , Perna (Membro) , Criança , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias de Tecidos Moles/diagnóstico , Tomografia Computadorizada por Raios X
12.
Brain Dev ; 28(2): 104-8, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16181756

RESUMO

OBJECTIVE: To examine the utility of the Bayley Infant Neurodevelopmental Screener (BINS) for the neurodevelopmental follow up of high-risk preterms. METHODS: The study group consisted of 122 preterm infants of the gestational ages between 26 and 37 weeks. Medical factors such as; mean birth weight, gestational age, gender, birth place and type, number of multiple pregnancy, days of hospitalization and oxygen therapy, use of antenatal steroids, and occurrence of sepsis for each patient were evaluated. The neurodevelopmental examination and BINS administration was made at each visit to the patients whose ages were adjusted for prematurity. RESULTS: At the corrected age of 7-10 months patients at 26-29 GA had significantly lower total means of BINS scores when compared to those of the other two groups at 30-32 and 33-37 GA (P<0.01 and P<0.001). At the corrected age of 3-4 months, the total means of the BINS scores of the patients at 30-32 GA were lower than that of the patients at 33-37 GA (P<0.009). at 7-10 months the scores of the items defining the expressive and cognitive functions of the patients at 26-29 GA were lower than those of the patients at 30-32 GA (P<0.05) and 33-37 GA (P<0.05). At 16-20 months the mean scores of the items of expressive functions were significantly lower in patients of the 26-29 GA compared to those of the patients of 33-37 GA (P<0.03). CONCLUSION: As data accumulates, BINS will turn out to be a quick way of determining infants at risk of developmental delay in many aspects of neurologically high risk conditions.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Recém-Nascido Prematuro/fisiologia , Recém-Nascido de muito Baixo Peso/fisiologia , Recém-Nascido de muito Baixo Peso/psicologia , Fatores Etários , Análise de Variância , Desenvolvimento Infantil , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Exame Neurológico/métodos , Testes Neuropsicológicos/estatística & dados numéricos , Estatísticas não Paramétricas
13.
J Hosp Infect ; 92(1): 67-72, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26601601

RESUMO

BACKGROUND: Multidrug-resistant Gram-negative bacilli are responsible for more than 50% of healthcare-associated infections. Colonization dynamics, characteristics, and risk factor data for CR-GNB are scarce in children. AIM: To examine the molecular characteristics of, and risk factors for nosocomial colonization with, carbapenem-resistant Gram-negative bacilli (CR-GNB) in hospitalized paediatric patients in a tertiary university hospital's paediatric units in Turkey. METHODS: A prospective case-control study was performed at a university hospital in Istanbul, Turkey. FINDINGS: A total of 1840 rectal swab specimens were collected from all 762 hospitalized children between March 2013 and October 2013. Among them, 176 (23%) patients were colonized with CR-GNB. Of these, 72 (9%) patients were colonized with carbapenem-resistant Enterobacteriaceae, 138 (18%) with CR-non-fermenter Gram-negative bacilli (CR-NF) and 34 (4%) with both. The median CR-GNB colonization time was 10 days (range: 1-116). The median duration of rectal colonization with CR-GNB was 8 days (range: 1-160). NDM (31%) was the second most frequent carbapenemase identified in Acinetobacter baumannii isolates, and has not previously been detected in Turkey. All of the 17 patients colonized with NDM-producing A. baumannii were newborns in the neonatal intensive care unit. Independent risk factors for CR-GNB colonization were: age <1 year, nasogastric tube placement, presence of underlying chronic diseases, ampicillin usage, surgical intervention, and carbapenem use. CONCLUSION: This is the first description of NDM in A. baumannii in newborn units in Turkey. Carbapenem usage is a common independent risk factor for both CRE and CR-NF colonization, which underscores the importance of antibiotic stewardship programmes.


Assuntos
Antibacterianos/farmacologia , Carbapenêmicos/farmacologia , Genótipo , Bactérias Gram-Negativas/isolamento & purificação , Infecções por Bactérias Gram-Negativas/epidemiologia , Infecções por Bactérias Gram-Negativas/microbiologia , Resistência beta-Lactâmica , Adolescente , Antibacterianos/uso terapêutico , Carbapenêmicos/uso terapêutico , Estudos de Casos e Controles , Criança , Pré-Escolar , Uso de Medicamentos , Feminino , Bactérias Gram-Negativas/classificação , Bactérias Gram-Negativas/efeitos dos fármacos , Bactérias Gram-Negativas/genética , Hospitais Universitários , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Masculino , Estudos Prospectivos , Fatores de Risco , Centros de Atenção Terciária , Turquia/epidemiologia
14.
Seizure ; 26: 86-93, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25799908

RESUMO

PURPOSE: To evaluate the electroclinical features, treatment effectiveness, and outcome of 59 patients with epileptic encephalopathy with electrical status epilepticus during sleep. METHODS: Medical-files of 59 patients with electrical status epilepticus during sleep were retrospectively evaluated for data concerning: history, physical and neurological examinations, sleep and awake EEG's, psychometric tests and brain MRI. RESULTS: A total of 31 boys and 28 girls were identified. Patients were evaluated in two groups: symptomatic/structural and idiopathic group. There was no significant difference between the etiological groups in term of mean age at ESES onset, mean interval between the first seizure and the onset of ESES. The mean age at seizure onset was earlier in the symptomatic/structural group than the idiopathic ones. The mean follow-up time after the ESES onset was 4.5 years for all patients. The most effective antiepileptic drugs in our series were clobazam and levetiracetam. In refractory patients, steroid treatment was found effective during the early course of the disease. In the idiopathic group, cognitive decline has improved. However in the symptomatic group, patients did not respond to the treatment and cognitive deterioration did not improve in one third of the group. CONCLUSION: The long-term outcome of ESES is highly variable and usually depends on etiology and the duration of ESES. The most efficious antiepileptic drugs in our study are clobazam and levetiracetam.


Assuntos
Anticonvulsivantes/uso terapêutico , Estado Epiléptico/complicações , Estado Epiléptico/tratamento farmacológico , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Lactente , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Exame Neurológico , Sono , Resultado do Tratamento
15.
Seizure ; 8(2): 107-10, 1999 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10222303

RESUMO

We evaluated the P300 components of event-related potentials (ERP) in 64 cryptogenic partial epilepsy (CPE) patients, and 52 idiopathic generalized epilepsy (IGE) patients as well as in their age-matched control groups. The P200, N200 and P300 latencies recorded from Cz were significantly longer in CPE patients compared with those of their control group (P = 0.0371, P = 0.0092 and P = 0.0405, respectively). The P200 and N200 latencies recorded from Fz were significantly longer than in their control group (P = 0.0448 and P = 0.0107) while the prolongation in the P300 latencies was not found to be statistically significant (P = 0.0733). All latencies were longer in IGE patients, and the amplitudes of the N200/P300 components of ERP were lower in both epileptic groups compared with their control groups, but these differences were not significant. The prolongation of the P300 latencies was not correlated with the type or serum level of antiepileptic drug or seizure control. Our findings suggest that the prolongation of the P300 latency of ERP is related to the type of epilepsy.


Assuntos
Epilepsias Parciais/diagnóstico , Epilepsia Generalizada/diagnóstico , Potenciais Evocados P300 , Potenciais Evocados Auditivos , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
16.
Epileptic Disord ; 1(3): 173-7, 1999 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10937150

RESUMO

PURPOSE: In order to demonstrate cortical hyperexitability and to determine the efficacy of 'SEP of high amplitude (HASEP) in detecting asymptomatic relatives of JME patients, we evaluated the EEG findings and SEP in asymptomatic siblings of JME patients. METHODS: We analysed the EEG and SEP findings of 37 JME patients and 48 asymptomatic siblings of 27 patients and compared the results with healthy volunteers. RESULTS: Of 13 asymptomatic siblings with EEG abnormalities (27.1%), 5 had 4-6 Hz spike/polyspike and wave paroxysms (10.4%), 5 had slow wave paroxysms (10.4%), and the remaining 3 patients exhibited focal spike and wave activity during hyperventilation (6.25%). No significant difference was found between JME patients, asymptomatic siblings and control groups with respect to N20 latencies. N20/P25 amplitudes were significantly higher in both JME group and asymptomatic siblings than those of control cases. HASEP were observed in 8 out of 37 JME patients (21.6%), 10 out of 48 healthy siblings (20.8%) and none of the control cases. The consanguinity rate was higher in parents of patients who had at least one asymptomatic sibling with EEG and/or SEP abnormalities (68.7%) than in those of patients who had siblings with no EEG and SEP abnormalities (9.9%). We suggest that the high rate of SEP and EEG changes among offspring of consanguineous marriages might reflect the genetic heterogeneity of the disease.


Assuntos
Eletroencefalografia , Potenciais Somatossensoriais Evocados/genética , Epilepsia Mioclônica Juvenil/genética , Adolescente , Adulto , Criança , Consanguinidade , Diagnóstico Diferencial , Potenciais Somatossensoriais Evocados/fisiologia , Feminino , Testes Genéticos , Humanos , Masculino , Epilepsia Mioclônica Juvenil/diagnóstico , Epilepsia Mioclônica Juvenil/fisiopatologia , Fenótipo , Tempo de Reação/genética , Tempo de Reação/fisiologia
17.
J Pediatr Endocrinol Metab ; 13(8): 1137-41, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-11085193

RESUMO

We report the clinical laboratory, electroencephalography (EEG), magnetic resonance imaging (MRI) and single photon emission computerized tomography (SPECT) findings in a 15 year-old euthyroid girl with autoimmune thyroiditis and encephalopathy. She had stupor, coma and generalized tonic clonic seizure preceded by tremor and myoclonus with a previous misdiagnosis of epilepsy and encephalitis. Response to steroid after the 3rd relapse was excellent. Another four children in the literature are also discussed.


Assuntos
Encefalopatias/etiologia , Mioclonia/etiologia , Tireoidite Autoimune/complicações , Tremor/etiologia , Adolescente , Encefalopatias/diagnóstico , Eletroencefalografia , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imageamento por Ressonância Magnética , Metilprednisolona/uso terapêutico , Tireoidite Autoimune/tratamento farmacológico , Tomografia Computadorizada de Emissão de Fóton Único
18.
J Child Neurol ; 29(10): 1349-55, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24563478

RESUMO

The aim of this study was to see whether the scores of the Bayley Infant Neurodevelopmental Screener of 45 high-risk preterm infants (gestational age 26-37 wk) between the ages of 3 and 24 months predicted neurodevelopmental status at 7 to 10 years of age. Neurodevelopmental status of 45/122 preterm infants, grouped according to their gestational ages of 26 to 29, 30 to 32, and 33 to 37 weeks, were previously evaluated by Bayley Infant Neurodevelopmental Screener. The scores were categorized as low or high-moderate. Verbal and performance scores of Wechsler Intelligence Scale for Children-Revised (WISC-R) of those patients were assessed between 7 and 10 years. The patients with high-moderate-risk scores of Bayley Infant Neurodevelopmental Screener at all times, regardless of their gestational age, had lower performance, verbal, and total scores of WISC-R than those of who had low Bayley Infant Neurodevelopmental Screener risk scores. High-moderate risk score of Bayley Infant Neurodevelopmental Screener at 7 to 10, and 16 to 20 months, of all patients especially showed good prediction for identifying lower verbal and performance scales. For 7 to 10 months, verbal scale: positive predictive value = 92.3%, negative predictive value = 44.4%, sensitivity = 70.58%, and specificity = 80%; performance scale: positive predictive value = 100%, negative predictive value = 30%, sensitivity = 68.18%, and specificity = 100%. For 16 to 20 months, verbal scale: positive predictive value = 90%, negative predictive value = 37.5%, sensitivity = 64.3%, and specificity = 80%; performance scale: positive predictive value = 90%, negative predictive value = 12.5%, sensitivity = 56.3%, and specificity = 50%. Bayley Infant Neurodevelopmental Screener shows good prediction of later verbal and performance scores of Wechsler Intelligence Scale-Revised for Children as early as 7 to 10 months, which gives us the opportunity to start early intervention.


Assuntos
Desenvolvimento Infantil , Deficiências do Desenvolvimento/diagnóstico , Recém-Nascido Prematuro , Análise de Variância , Criança , Feminino , Seguimentos , Humanos , Lactente , Testes de Inteligência , Masculino , Prognóstico , Sensibilidade e Especificidade
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