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1.
Seizure ; 119: 58-62, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38796952

RESUMO

PURPOSE: The present study sought to assess the effects of racial and socioeconomic status in the United States on time to treatment and diagnosis of pediatric functional seizures (FS). METHODS: Eighty adolescents and their parent/guardian completed a demographics questionnaire and reported date of FS onset, diagnosis, and treatment. Paired samples t-tests compared time between FS onset and diagnosis, onset and treatment, and diagnosis and treatment based on race (White vs racial minority), annual household income (≤$79,999 vs ≥$80,000), maternal and paternal education (≤Associate's Degree vs Bachelor's Degree), and combined parental education (≤Post-graduate training vs Graduate degree). RESULTS: Adolescents with lower annual household income began treatment >6 months later than adolescents with greater annual household income (p = 0.049). Adolescents with lower maternal and paternal education (≤Associate's Degree vs Bachelor's Degree) began treatment >4 and ∼8.5 months later than adolescents with greater maternal and paternal education (p = 0.04; p = 0.03), respectively. Adolescents with lower maternal education also received a diagnosis >5 months later (p = 0.03). Adolescents without a mother or father with a graduate degree received a diagnosis and began treatment∼3 and >11 months later (p = 0.03; p = 0.01) than adolescents whose mother or father received a graduate degree, respectively. No racial differences were found. CONCLUSIONS: Adolescents with lower annual household income and/or parental education experienced increased duration between FS onset and treatment and diagnosis. Research is needed to clarify the mechanisms underlying this relationship, and action is needed to reduce these disparities given FS duration is associated with poorer prognosis and greater effects on the brain.


Assuntos
Convulsões , Tempo para o Tratamento , Humanos , Feminino , Masculino , Adolescente , Estados Unidos , Convulsões/diagnóstico , Convulsões/terapia , Convulsões/etnologia , Tempo para o Tratamento/estatística & dados numéricos , Criança , Fatores Socioeconômicos , Disparidades em Assistência à Saúde/etnologia , Disparidades em Assistência à Saúde/estatística & dados numéricos , Escolaridade , Classe Social , Renda/estatística & dados numéricos , Disparidades Socioeconômicas em Saúde
2.
J Stroke Cerebrovasc Dis ; 29(12): 105260, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32992176

RESUMO

OBJECTIVE: To study the central nervous system (CNS) complications in patients with COVID-19 infection especially among Native American population in the current pandemic of severe acute respiratory syndrome virus (COVID-19). METHODS: Patients with confirmed COVID-19 infection at University of New Mexico hospital (UNMH) were screened for development of neurological complications during Feb 01 to April 29, 2020 via retrospective chart review. RESULTS: Total of 90 hospitalized patients were screened. Out of seven patients, majority were Native Americans females, and developed neurological complications including subarachnoid hemorrhage (SAH), Intraparenchymal hemorrhage (IPH), Ischemic stroke (IS) and seizure. All 7 patients required Intensive care unit (ICU) level of care. Patients who developed CNS complications other than seizure were females in the younger age group (4 patients, 38-58 years) with poor outcome. Out of 7, three developed subarachnoid hemorrhage, two developed ischemic infarction, and four developed seizure. Two patients with hemorrhagic complication expired during the course of hospitalization. All three patients with seizure were discharged to home. CONCLUSION: Patients with serious CNS complications secondary to COVID-19 infection were observed to be Native Americans. Patients who developed hemorrhagic or ischemic events were observed to have poor outcomes as compared to patients who developed seizures.


Assuntos
COVID-19/etnologia , Sistema Nervoso Central/fisiopatologia , Transtornos Cerebrovasculares/etnologia , Indígenas Norte-Americanos , Convulsões/etnologia , Centros Médicos Acadêmicos , Adulto , Idoso , COVID-19/mortalidade , COVID-19/fisiopatologia , COVID-19/terapia , Transtornos Cerebrovasculares/mortalidade , Transtornos Cerebrovasculares/fisiopatologia , Transtornos Cerebrovasculares/terapia , Feminino , Mortalidade Hospitalar , Humanos , Masculino , Pessoa de Meia-Idade , New Mexico/epidemiologia , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Convulsões/mortalidade , Convulsões/fisiopatologia , Convulsões/terapia , Centros de Atenção Terciária
3.
Epilepsy Behav ; 111: 107197, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32540770

RESUMO

PURPOSE: We conducted a multicenter international cross-cultural comparative study to investigate clinical semiology and predisposing factors of functional seizures in a large cohort of patients living in different countries around the world. We hypothesized that semiology and predisposing factors of functional seizures differ between various world regions. METHODS: We conducted this retrospective observational study in adults with functional seizures admitted to epilepsy centers in Iran, Qatar, USA, France, Georgia, Egypt, and United Arab Emirates (UAE). We assessed and compared the demographic and clinical seizure characteristics of these patients, according to the patients' reports and review of the ictal recordings during video-electroencephalogram (EEG) monitoring. RESULTS: Five hundred nine patients were included (270 from Iran, 74 from Qatar, 63 from France, 43 from the USA, 22 from Egypt, 20 from UAE, and 17 from Georgia). Although all major manifestations of functional seizures (e.g., aura, loss of responsiveness, generalized motor seizures, ictal injury) were seen in all world regions, seizure semiology differed significantly across countries. Auras, ictal urinary incontinence, and ictal injury were more commonly reported by the American patients than patients from other world regions, whereas loss of responsiveness and generalized motor seizures were more frequently observed in the Iranian and American patients than the European and Arab patients. CONCLUSION: Semiology of functional seizures seems to vary across various regions of the world; socioeconomic, cultural, ethnic, and religious differences may play an essential role in the modulation of functional seizures semiology across different nations and cultures.


Assuntos
Comparação Transcultural , Internacionalidade , Transtornos Psicofisiológicos/etnologia , Transtornos Psicofisiológicos/psicologia , Convulsões/etnologia , Convulsões/psicologia , Adolescente , Adulto , Idoso , Estudos Transversais , Eletroencefalografia/métodos , Eletroencefalografia/tendências , Feminino , Hospitalização/tendências , Humanos , Masculino , Anamnese/métodos , Pessoa de Meia-Idade , Transtornos Psicofisiológicos/fisiopatologia , Estudos Retrospectivos , Convulsões/fisiopatologia , Adulto Jovem
4.
Epilepsy Behav ; 104(Pt A): 106890, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31945663

RESUMO

OBJECTIVE: The objective of the study was to investigate the predictive seizure lateralization ability of the Neuropsychological Screening Battery for Hispanics (NeSBHIS) in an optimally, demographically matched cohort of primarily immigrant Spanish-speaking people with epilepsy (PWE) living in the US. Linguistically and culturally appropriate neuropsychological measures for Spanish-speaking people are increasingly needed in the US, especially as this diverse, international population grows. The NeSBHIS was developed to meet this need. Previous studies were inconclusive regarding its utility in epilepsy lateralization with PWE. Sample size and demographic variables, particularly educational levels, which anchor neuropsychological normative data and guide clinical use, limited the conclusions of earlier studies. METHODS: A retrospective study, the NeSBHIS battery's ability to predict seizure lateralization in a large cohort of Spanish-speaking PWE (n = 108) was conducted using normative data based on refined, smaller education ranges suggested by the author of the NeSBHIS, Pontón. RESULTS: Regression analysis revealed that four NeSBHIS subtests representing different cognitive domains produced the best model for predicting lateralization: 1) language, 2) attention/mental control, 3) visual memory recall, and 4) verbal memory recall. Prediction accuracy overall was 62% (67.3% for left hemisphere (LH) and 55.8% for right hemisphere (RH)). CONCLUSION: This study demonstrated the clinical utility of the NeSBHIS in seizure lateralization in a large cohort of Spanish-speaking PWE by analyzing standardized scores based on refined, education-based normative samples. These results also highlight that demographic variables, in particular, education, which varies greatly across Spanish-speaking nations in terms of compulsory educational opportunity and quality, must be accounted for more carefully in clinical and research practice.


Assuntos
Epilepsia/etnologia , Epilepsia/psicologia , Hispânico ou Latino/psicologia , Multilinguismo , Testes Neuropsicológicos/normas , Convulsões/etnologia , Convulsões/psicologia , Adolescente , Adulto , Eletroencefalografia/métodos , Feminino , Humanos , Masculino , Educação de Pacientes como Assunto/métodos , Educação de Pacientes como Assunto/normas , Estudos Retrospectivos , Estados Unidos/etnologia , Adulto Jovem
5.
Epilepsy Behav ; 102: 106694, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31760198

RESUMO

OBJECTIVE: The objective of this study was to compare Spanish-speaking American patients with epilepsy to Spanish-speaking American patients with psychogenic nonepileptic seizures (PNES) on depression, anxiety, and other clinical variables. BACKGROUND: Research on Spanish-speaking American patients with epilepsy or PNES is relatively infrequent, with only a few studies on psychopathology in these two patient groups. Studies of English-speaking patients indicate that those with PNES present with greater depression and anxiety and report poorer quality of life (QOL) when compared with persons with epilepsy (PWEs). Similarly, although psychological trauma is observed in both groups, those with PNES appear to have more traumatic exposure compared with PWEs. METHODS: This is a retrospective study of 74 Spanish-speaking PWEs (49 women, 31 men) and 34 Spanish-speaking patients with PNES (28 women, 4 men) (2004 to 2017). The diagnosis of epilepsy or PNES was confirmed with video-EEG. Demographic and clinical (psychological trauma, history of psychological treatment, etc.) data were collected, and Spanish versions of the Beck Depression Inventory - second edition (BDI-II) and Beck Anxiety Inventory (BAI) were completed by the patients. RESULTS: Patients with PWEs (M = 18.19, SD = 12.89) differed significantly from those with PNES on a measure of depression (BDI-II, (M = 24.12, SD = 11.20); t (92) = -2.22, p = 0.01). In addition, PWEs (M = 15.76, SD = 14.24) also differed significantly when compared with patients with PNES on a measure of anxiety (BAI, (M = 22.46, SD = 14.02); t (93) = -2.05, p = 0.02). Significant differences in clinical and demographic data were also noted. CONCLUSIONS: Spanish-speaking American patients with PNES were significantly more depressed and anxious and reported greater exposure to sexual trauma as compared with PWEs. Furthermore, patients with PNES tended to report more prediagnosis utilization of mental health services than PWEs. After adjusting for potential linear effects of other predictors (e.g., gender, age, seizure frequency, and psychological trauma), only a reported history of psychological trauma had a linear relationship with a depression score while higher seizure frequency and history of mental health treatment had linear relationships with an anxiety score.


Assuntos
Ansiedade/psicologia , Depressão/psicologia , Epilepsia/psicologia , Hispânico ou Latino/psicologia , Transtornos Psicofisiológicos/psicologia , Convulsões/psicologia , Adulto , Idoso , Ansiedade/etnologia , Depressão/etnologia , Epilepsia/etnologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Psicofisiológicos/etnologia , Qualidade de Vida/psicologia , Estudos Retrospectivos , Convulsões/etnologia , Estados Unidos/epidemiologia
6.
Seizure ; 71: 56-59, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31207393

RESUMO

PURPOSE: We compared various clinical characteristics of pediatric-onset psychogenic nonepileptic seizures (PNES) between patients from five countries. The purpose of this study was to advance our understanding of pediatric-onset PNES cross-culturally. METHODS: In this retrospective study, we compared consecutive patients with PNES with an age at onset of 16 years and younger from epilepsy monitoring units in Iran, Brazil, the USA, Canada, and Venezuela. Age, gender, age at seizure onset, seizure semiology, predisposing factors, and video-EEG recordings of all patients were extracted. Pearson Chi-Square, one-way ANOVA and Bonferroni correction tests were used for statistical analyses. RESULTS: Two hundred twenty-nine patients were studied (83 from Iran, 50 from Brazil, 39 from Canada, 30 from the USA, and 27 from Venezuela). Mean age at the onset of seizures was 12.1 ±â€¯3.2 years (range: 4-16 years). The sex ratio of the patients was 1.83: 1 (148 females and 81 males). Clinical characteristics of pediatric-onset PNES showed some significant differences among the nations. However, factors associated with pediatric-onset PNES in these five nations were similar. CONCLUSION: This study underscores how international cross-cultural studies can make important contributions to our understanding of PNES. Patients with pediatric-onset PNES from different countries were similar on many risk factors associated with PNES. This suggests universality in many features of PNES. However, intriguing differences were also noted with regard to seizure semiology, which might be the result of cultural factors.


Assuntos
Comparação Transcultural , Convulsões/fisiopatologia , Transtornos Somatoformes/fisiopatologia , Adolescente , Idade de Início , Brasil/etnologia , Canadá/etnologia , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Irã (Geográfico)/etnologia , Masculino , Estudos Retrospectivos , Fatores de Risco , Convulsões/etnologia , Transtornos Somatoformes/etnologia , Estados Unidos/etnologia , Venezuela/etnologia
7.
Epilepsy Behav ; 90: 90-92, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30517909

RESUMO

PURPOSE: We compared various clinical characteristics of psychogenic nonepileptic seizures (PNES) between young patients from Iran, Saudi Arabia, and Canada, three nations with significantly different socioeconomic and demographic characteristics. This international cross-cultural comparative study may advance our knowledge and understanding of PNES in children and adolescents across the cultures and borders. METHODS: In this retrospective study, we investigated all patients 16 years of age or younger, with PNES admitted to the epilepsy monitoring units at one center in Iran, one center in Saudi Arabia, and one center in Canada. Age, gender, age at seizure onset, seizure semiology, seizure frequency, factors potentially predisposing to PNES, and video-electroencephalography (EEG) recording of all patients were registered routinely and compared between the nations. RESULTS: Fifty-one patients were studied (22 from Iran, 14 from Saudi Arabia, and 15 from Canada). Age at the diagnosis was 13.4 ±â€¯2.2 years (range: 8-16 years), and age at the onset of seizures was 12.3 ±â€¯2.7 years (range: 5-16 years). Demographic and clinical characteristics of and associated factors in the patients among the three nations were not significantly different. Twenty-six (51%) patients were taking antiepileptic drugs at the time of diagnosis; the difference was not statistically significant between the nations (13 patients in Iran, 6 in Saudi Arabia, and 7 patients in Canada; P = 0.5). CONCLUSION: Young patients with PNES across borders and between cultures share more similarities than differences with regard to their demographic and clinical characteristics.


Assuntos
Comparação Transcultural , Internacionalidade , Convulsões/etnologia , Convulsões/psicologia , Adolescente , Adulto , Canadá/etnologia , Criança , Pré-Escolar , Eletroencefalografia/métodos , Eletroencefalografia/tendências , Feminino , Hospitalização/tendências , Humanos , Irã (Geográfico)/etnologia , Masculino , Estudos Retrospectivos , Arábia Saudita/etnologia , Convulsões/diagnóstico , Gravação em Vídeo/métodos , Gravação em Vídeo/tendências
8.
BMC Med Genet ; 19(1): 193, 2018 11 06.
Artigo em Inglês | MEDLINE | ID: mdl-30400883

RESUMO

BACKGROUND: X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems. Mutations in the creatine transporter gene SLC6A8, a member of the solute-carrier family 6 mapped to Xq28, have been reported to cause the creatine transporter deficiency. CASE PRESENTATION: The proband presented at 5 yrs. 1 month of age with delays in intellectual and development, seizures and behavioral problems. A novel missense mutation, c.1181C > A (p.Thr394Lys), in the SLC6A8 gene (NM_005629.3) was detected via targeted exome sequencing, and then validated by Sanger sequencing. Multiple in silico variant effect analysis methods, including SIFT, PolyPhen2, PROVEAN, and Mutation Taster predicted that this variant was likely damaging or diseasing-causing. This hemizygous variation was also identified in the affected brother with the same clinical condition and inherited from the heterozygous carrier mother. The diagnosis was suggested by increased urinary creatine/creatinine (Cr:Crn) ratio and markedly reduced creatine content peak by brain proton magnetic resonance spectroscopy (MRS). The proband's mother became pregnant with a 3rd sibling, in whom the Sanger sequencing result of c.1181C > A was negative. CONCLUSION: The novel mutation c.1181C > A in the SLC6A8 gene reported in a Chinese family has expanded the mutation spectrum of CRTR-D. The combination of powerful new technologies such as targeted exome sequencing with thorough systematic clinical evaluation of patients will improve the diagnostic yield, and assist in genetic counselling and prenatal diagnosis for suspected genetic disorders.


Assuntos
Encefalopatias Metabólicas Congênitas/genética , Creatina/deficiência , Deficiência Intelectual/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Mutação de Sentido Incorreto , Proteínas do Tecido Nervoso/genética , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/deficiência , Convulsões/genética , Povo Asiático , Sequência de Bases , Encefalopatias Metabólicas Congênitas/etnologia , Encefalopatias Metabólicas Congênitas/fisiopatologia , Encefalopatias Metabólicas Congênitas/urina , Pré-Escolar , Cromossomos Humanos Par 10/química , Creatina/genética , Creatina/urina , Creatinina/urina , Análise Mutacional de DNA , Exoma , Expressão Gênica , Humanos , Deficiência Intelectual/etnologia , Deficiência Intelectual/fisiopatologia , Deficiência Intelectual/urina , Herança Materna , Deficiência Intelectual Ligada ao Cromossomo X/etnologia , Deficiência Intelectual Ligada ao Cromossomo X/fisiopatologia , Deficiência Intelectual Ligada ao Cromossomo X/urina , Linhagem , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/genética , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/urina , Convulsões/etnologia , Convulsões/fisiopatologia , Convulsões/urina , Irmãos
10.
BMC Med Genet ; 19(1): 177, 2018 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-30285654

RESUMO

BACKGROUND: Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characterized by seizures, motor impairment, and loss of vision. Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases arising from CLN6 mutations have not been described in China to date. The CLN6 protein, which plays a role in lysosomal function, is an endoplasmic reticulum (ER) membrane protein with seven transmembrane (TM) domains. It has a cytosolic-facing amino terminal domain and a luminal-facing carboxyl terminal domain, with six loops between the TM domains. CASE PRESENTATION: Here we report a case involving a Chinese boy whose suspected diagnosis was a hereditary leukoencephalopathy, based on brain MRI imaging and epilepsy symptoms, language articulation disorders, ataxia, and unstable gait. The electroencephalogram showed epileptic discharges, and the brain MRI scan showed high signal intensity adjacent to the bilateral posterior horns of the lateral ventricles on T2-weighted images, along with cerebellar atrophy. Using next-generation sequencing for the genes in a panel for hereditary leukoencephalopathies, we detected a homozygous missense point mutation c.892G > A(p.Glu298Lys) in CLN6, and the variant was interpreted as pathogenic on in silico analysis. Absence of this mutation was confirmed in 259 controls. Late infantile NCL and secondary epilepsy were diagnosed, and oral sodium valproate was prescribed. The epilepsy was not well controlled, however, and the other signs had not improved at the 6-month follow-up. We also analyzed the loci of 31 CLN6 missense mutations, including those previously reported and the current one. We found that 22.6% (7/31) of the mutations are in the cytoplasmic domains, about 32.2% (10/31) are in the TM domains, and about 45.2% (14/31) are in the luminal domains. These mutations were mostly located in the TM3-TM4 loop (6/31), TM1-TM2 loop (4/31), and C-terminus (4/31), with none found in the TM4-TM5 loop, TM5-TM6 loop, or TM7. CONCLUSIONS: We report the first case in China of NCL caused by a CLN6 mutation, expanding the genotype options for NCLs. In practice, NCLs generally are not the initial suspected diagnosis for such cases. Use of a gene sequencing panel for investigating unexplained seizures or leukoencephalopathies can help confirm the diagnosis.


Assuntos
Leucoencefalopatias/genética , Proteínas de Membrana/genética , Mutação de Sentido Incorreto , Lipofuscinoses Ceroides Neuronais/genética , Convulsões/genética , Adulto , Povo Asiático , Sequência de Bases , Pré-Escolar , Diagnóstico Diferencial , Eletroencefalografia , Feminino , Expressão Gênica , Heterozigoto , Homozigoto , Humanos , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/etnologia , Leucoencefalopatias/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Lipofuscinoses Ceroides Neuronais/diagnóstico por imagem , Lipofuscinoses Ceroides Neuronais/etnologia , Lipofuscinoses Ceroides Neuronais/fisiopatologia , Linhagem , Domínios Proteicos , Convulsões/diagnóstico por imagem , Convulsões/etnologia , Convulsões/fisiopatologia
11.
J Stroke Cerebrovasc Dis ; 27(10): 2755-2760, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30037649

RESUMO

GOAL: Epilepsy is a major complication of stroke. There have been suggestions that patients with cardioembolic stroke are at a greater risk of developing seizures than other stroke subtypes. However, the incidence of atrial fibrillation (AF) and cardioembolic stroke varies considerably across countries, generally higher in Western populations than in Asian populations. This study assessed whether ethnicity affects the association between AF and poststroke seizure (PSS) development. We hypothesized that Royal Melbourne Hospital ([RMH] Melbourne) patients will have significantly higher incidence of AF-related PSS than in the Jinling Hospital (Nanjing) population. MATERIALS AND METHODS: This was a retrospective, multicenter cohort study including patients with anterior circulation ischemic stroke admitted between 2008 and 2015. Occurrences of PSS were ascertained by reviewing medical records or telephone follow-up. To test the hypothesis of an interaction between ethnicity and AF for PSS occurrence, a logistic regression model with AF and ethnicity together with an ethnicity-by-AF interaction term was used. FINDINGS: Of 782 patients followed-up for seizure development at RMH, 247 (31.6%) patients had AF, of whom 10 (4%) developed PSS. Of 1185 patients followed-up and included at JH, 54 (4.8%) patients with AF, of whom 4 (7.4%) developed PSS. At RMH, no significant association was found between AF and PSS; odds ratio .75, 95% confidence interval .4-1.6, (P = .4). At JH, there was a significant association between AF and increased PSS: OR 4.0, 95% CI 1.3-12.1, (P = .01), P for interaction = .03. CONCLUSION: Further understanding of genetic risks and environmental differences across ethnic populations and the role in PSS is required.


Assuntos
Povo Asiático , Fibrilação Atrial/etnologia , Meio Ambiente , Disparidades nos Níveis de Saúde , Havaiano Nativo ou Outro Ilhéu do Pacífico , Convulsões/etnologia , Acidente Vascular Cerebral/etnologia , Idoso , Idoso de 80 Anos ou mais , Povo Asiático/genética , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/genética , China/epidemiologia , Feminino , Interação Gene-Ambiente , Predisposição Genética para Doença , Humanos , Incidência , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Havaiano Nativo ou Outro Ilhéu do Pacífico/genética , Razão de Chances , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Convulsões/diagnóstico , Acidente Vascular Cerebral/diagnóstico , Vitória/epidemiologia
12.
Epilepsy Res ; 144: 49-52, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29778029

RESUMO

PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy. RESULTS: Mean age at symptom onset was 3 years in G1 and 3.4 years in G2. Symptoms at onset were epilepsy in 58%, language delay in 34%, and gait disturbances in 8% of patients in G1 and epilepsy in 52.1%, language delay in 26%, gait disturbances in 17.4%, and loss of visual acuity in 4.5% in G2. The most common seizure types in G1 patients were myoclonic in 3/7, generalized tonic-clonic in 2/7, focal motor in 1/7, and febrile seizures in 1/7; in G2 patients they were myoclonic in 5/12, generalized tonic-clonic in 3/12, myoclonic-atonic in 2/12, and febrile seizures in 2/12. A photoparoxysmal response to intermittent photic stimulation (IPS) was found in the initial EEG in 9/12 patients in G1 (mean age 3.8 years) and in 10/13 patients in G2 (mean age 3.9 years). CONCLUSIONS: There were no significant differences between both groups. Seizures, especially myoclonic, are the most common symptom at onset followed by language delay and gait disturbances. Low-frequency IPS is a useful study that may help facilitate the diagnosis of the disease.


Assuntos
Eletroencefalografia , Potenciais Evocados Visuais/fisiologia , Lipofuscinoses Ceroides Neuronais/complicações , Lipofuscinoses Ceroides Neuronais/diagnóstico , Convulsões/etnologia , Idade de Início , Criança , Pré-Escolar , Feminino , Transtornos Neurológicos da Marcha/etiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Lipofuscinoses Ceroides Neuronais/classificação , Estudos Retrospectivos , Tripeptidil-Peptidase 1
13.
Epilepsy Res ; 140: 56-60, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29272743

RESUMO

OBJECTIVE: This study reports on epilepsy type period prevalence and black-white racial differences in a large patient population in the Southeastern United States. METHODS: For all patients visiting the University of Alabama at Birmingham's seizure monitoring unit between 2000 and 2011 (n = 3240), video EEG diagnosis was recorded along with basic demographic information. Descriptive statistics and multivariate logistic regression were used to identify factors associated with temporal lobe epilepsy (TLE) diagnosis. RESULTS: The racial distribution was 77.3% white, and 20.0% black (other races were only 2.3% of the population). Most patients had either TLE (n = 630) or PNES (n = 1150) compared to other focal (n = 424) or generalized epilepsies (n = 224). The diagnosis of TLE was significantly greater for blacks than whites (odds ratio [OR] = 1.87, 95% confidence interval [CI] 1.47-2.37). The period prevalence measures for the other conclusively diagnosed epilepsies were not significantly different. Women were disproportionately represented in the study population, and black women carried the most statistical weight for the TLE prevalence difference. INTERPRETATION: The nearly two-fold larger period prevalence of TLE among black patients is a striking finding that merits explanation. Although some selection bias exists due to a moderately lower than expected representation of blacks, socioeconomic status or access to care should not be assumed to be the only factors that might be responsible for the prevalence difference. Rather, all clues for distinct pathophysiological racial differences should be explored.


Assuntos
Epilepsia do Lobo Temporal/etnologia , Adulto , Negro ou Afro-Americano , Epilepsia do Lobo Temporal/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Convulsões/diagnóstico , Convulsões/etnologia , Fatores Sexuais , Sudeste dos Estados Unidos , População Branca
14.
Sci Rep ; 7(1): 7617, 2017 08 08.
Artigo em Inglês | MEDLINE | ID: mdl-28790444

RESUMO

Detection of autoantibodies in systemic lupus erythematosus (SLE) plays an important role in timely diagnosis and earlier treatment of SLE. In this study, we used a SmD1 polypeptide-based ELISA to determine anti-SmD1 antibody in 269 SLE, including100 naïve (had not been treated with steroids or immunosuppressants at study inception) SLE patients and 169 non-naive SLE patients; 233 controls with other rheumatic diseases (RDC) (70 RA, 40 AS, 73SSc, and 50 SS), and 110 healthy controls (HC) group. The positive rate of anti-SmD1 among all SLE patients was 60.97%, higher than that in the RDC group (13.30%, P = 0.000) or the HC group (9.09%, P = 0.000). The positive rate of anti-SmD1 in non-naive SLE patients was higher than that for anti-dsDNA antibodies (44.97%, P = 0.03). Positivity for anti-SmD1 only was found in 14.00% of naive SLE patients and 16.00% of non-naive SLE patients. In naive SLE patients, the serum concentration of anti-SmD1 was lower after treatment than before treatment (P = 0.039). Active SLE patients positive for anti-SmD1 were more likely to have malar rash, rash, nonscarring alopecia, PAH and hypocomplementemia. High positivity for anti-SmD1 only in patients with SLE indicated the importance and necessity of detection of anti-SmD1 in patients with SLE.


Assuntos
Artrite Reumatoide/imunologia , Autoanticorpos/sangue , Hipertensão Pulmonar/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Convulsões/imunologia , Serosite/imunologia , Proteínas Centrais de snRNP/imunologia , Adulto , Alopecia/diagnóstico , Alopecia/etnologia , Alopecia/imunologia , Anticorpos Antinucleares/sangue , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/etnologia , Autoantígenos/genética , Autoantígenos/imunologia , Estudos de Casos e Controles , China , Ensaio de Imunoadsorção Enzimática , Exantema/diagnóstico , Exantema/etnologia , Exantema/imunologia , Feminino , Expressão Gênica , Humanos , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/etnologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/etnologia , Masculino , Convulsões/complicações , Convulsões/diagnóstico , Convulsões/etnologia , Serosite/diagnóstico , Serosite/etnologia , Proteínas Centrais de snRNP/genética
15.
J Pediatr ; 186: 158-164.e1, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28438375

RESUMO

OBJECTIVE: To compare the timing and magnitude of variation of pediatric readmission rates across race/ethnicity for selected chronic conditions: asthma, diabetes, seizures, migraines, and depression. STUDY DESIGN: Retrospective analysis of hospitalizations at 48 children's hospitals in the 2013 Pediatric Health Information System database for children (ages 0-18 years) admitted for asthma (n = 36 910), seizure (n = 35 361), diabetes (n = 12 468), migraine (n = 5882), and depression (n = 5132). Generalized linear models with a random effect for hospital were used to compare the likelihood of readmission by patients' race/ethnicity, adjusting for severity of illness, age, payer, and medical complexity. Adjusted readmission rates were calculated by week over 1 year. RESULTS: Significant variation in adjusted readmission rates by race/ethnicity existed for conditions aside from depression. Disparities for diabetes and asthma emerged at 3 and 4 weeks, respectively; they remained divergent up to 1 year with the highest 1-year readmission rates in non-Hispanic blacks vs other race/ethnicities (diabetes: 21.7% vs 13.4%, P < .001; asthma: 21.4% vs 14.6%, P < .001). Disparities for migraines and seizure emerged at 6 and 7 weeks, respectively; they remained up to 1 year, with the highest 1-year readmission rates in non-Hispanic whites vs other race/ethnicities (migraine: 17.3% vs 13.6%, P < .001; seizure: 23.9% vs 21.9%, P < .001). CONCLUSIONS: Readmission disparities behave differently across chronic conditions. They emerge more quickly after discharge for children hospitalized with asthma or diabetes than for seizures or migraines. The highest readmission rates were not consistently observed for 1 particular race/ethnicity. Study findings can impact pediatric chronic disease management to improve care for children with these conditions.


Assuntos
Asma/etnologia , Transtorno Depressivo/etnologia , Diabetes Mellitus/etnologia , Etnicidade/estatística & dados numéricos , Transtornos de Enxaqueca/etnologia , Readmissão do Paciente/estatística & dados numéricos , Convulsões/etnologia , População Branca/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , Doença Crônica , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Estados Unidos
16.
Epilepsy Behav ; 70(Pt A): 253-258, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28412154

RESUMO

In this study, we examined the provision of care to older adults with epilepsy and compliance with the "Quality Indicator for Epilepsy Treatment 15" (QUIET-15) measure. We analyzed 2008-2010, 5% random sample of Medicare beneficiaries augmented with data from all beneficiaries who identified as a minority with claims related to seizures (780.3x) or epilepsy (345.xx). Of 36,912 identified epilepsy cases, 12.6% had ≥1 emergency room (ER) visit for seizure(s). For those who presented to ER, among those taking anti-epileptic drugs (AEDs), AED was changed in 15.4%, dose adjusted in 19.7%, and stopped in 14.9%; among those not taking AED, therapy was initiated in 68.5%. In adjusted logistic regressions, African-Americans were more likely to have recurrent seizures than Whites (OR 1.41, 95%CI 1.27-1.56), while Asians were less likely to have recurrent seizures (OR 0.71, 95%CI 0.57-0.89). There were no significant racial/ethnic differences in the likelihood of a post-seizure intervention. The chance of seizure recurrence leading to ER visit decreased with age and increased with the number of comorbidities. Patients with seizure recurrence were more likely to be taking an enzyme-inducing AED (OR 1.69, 95%CI 1.57-1.82) and receiving Part D Low Income Subsidy (OR 1.36, 95%CI 1.22-1.51). The probability of AED change after a seizure was higher for patients with ≥4 comorbidities (OR 1.69, 95%CI 1.25-2.27), patients who saw a neurologist (OR 1.49, 95%CI 1.30-1.70), and patients who were taking an enzyme-inducing AED (OR 1.47, 95%CI 1.27-1.71). Overall, a minority of Medicare beneficiaries experienced seizure recurrence that resulted in an ER visit. However, only half of them received treatment concordant with QUIET-15. Though racial differences were observed in occurrence of seizures, none were noted in the provision of care.


Assuntos
Epilepsia/etnologia , Epilepsia/terapia , Grupos Minoritários , Indicadores de Qualidade em Assistência à Saúde/normas , Convulsões/etnologia , Convulsões/terapia , Idoso , Idoso de 80 Anos ou mais , Anticonvulsivantes/uso terapêutico , Estudos de Coortes , Epilepsia/psicologia , Feminino , Humanos , Masculino , Medicare/normas , Medicare/tendências , Indicadores de Qualidade em Assistência à Saúde/tendências , Recidiva , Estudos Retrospectivos , Convulsões/psicologia , Estados Unidos/epidemiologia
17.
Sci Rep ; 7: 43866, 2017 03 06.
Artigo em Inglês | MEDLINE | ID: mdl-28262755

RESUMO

Due to the specific physiology associated with pregnancy and puerperium, cerebral venous sinus thrombosis (CVT) may manifest different characteristics. This study aimed to identify the clinical manifestations and prognosis of pregnancy-associated CVT. A total of 43 pregnancy-associated CVT patients were enrolled. We analysed the clinical presentations of the disease and performed a multivariate logistic regression analysis to determine which variables were associated with prognosis. Our descriptive results showed the following: 1) the incidence was 202 per 100,000 deliveries, and the mortality rate was 11.63%; 2) the most frequent symptom was headache; 3) the most frequent abnormal laboratory findings were increased levels of fibrinogen and several serum lipoproteins (including triglyceride, cholesterol, high-density lipoprotein, low-density lipoprotein, apolipoprotein A1, and apolipoprotein B); and 4) the superior sagittal sinus and transverse sinus were the most frequently affected locations. Moreover, an increased modified Rankin Scale score was positively associated with infection, seizure, intracerebral haemorrhage (ICH) and hypertensive disorders of pregnancy (HDP). Comparably, the occurrence of death was positively and significantly associated with infection, seizure and ICH. Consequently, timely diagnosis and treatment of pregnancy-associated CVT patients with infection, seizure, ICH or HDP are needed. Patients with infection, seizure or ICH have a greater risk of death.


Assuntos
Trombose Intracraniana/diagnóstico , Período Pós-Parto/sangue , Complicações Cardiovasculares na Gravidez/diagnóstico , Trombose Venosa/diagnóstico , Adulto , Povo Asiático , Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/etnologia , China/epidemiologia , Feminino , Humanos , Incidência , Trombose Intracraniana/etnologia , Período Pós-Parto/etnologia , Gravidez , Complicações Cardiovasculares na Gravidez/etnologia , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Convulsões/diagnóstico , Convulsões/etnologia , Trombose Venosa/etnologia , Adulto Jovem
18.
Stroke Vasc Neurol ; 2(4): 184-188, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29507778

RESUMO

BACKGROUND AND PURPOSE: Clinical features of epileptic seizures after cerebral venous sinus thrombosis (CVST) among Chinese patients are not known, and it is still controversial whether seizures would affect the outcome of CVST. METHODS: In a Chinese hospital-based study of consecutive patients with CVST between 2003 and 2015, we described the clinical features of seizures and determined the predictors of seizure onset using multivariable logistic regression analysis. We also compared the in-hospital case-fatality and short-term functional outcome (modified Rankin Scale (mRS) at discharge) in patients with versus without seizures using ordinal regression analysis. RESULTS: Among 151 patients with CVST, 52 (34.4%) presented seizures, of which 42 (80.8%) were generalised seizures. Male gender (OR 6.32, 95% CI 2.06 to 19.35, p=0.001), motor deficits (OR 4.89, 95% CI 1.52 to 15.68, p=0.008), intracerebral haemorrhage (OR 3.93, 95% CI 1.16 to 13.26, p=0.027), cerebral infarction (OR 3.78, 95% CI 1.15 to 12.36, p=0.029) and superior sagittal sinus thrombosis (OR 3.38, 95% CI 91.16 to 9.86, p=0.026) were independent predictors for seizures. The overall in-hospital case-fatality rate was 2.0% (3/151), and 21 (13.9%) had mRS >2 at discharge. Compared with patients without seizures, patients with seizures were more likely to have a worse outcome (p=0.02) at discharge, independent of age, gender, clinical presentation, clot burden and presence of parenchymal lesions. CONCLUSIONS: In Chinese Han patients, compared with patients without seizures, patients with seizures after CVST had a worse outcome. Risk factors such as male gender, paresis, parenchymal lesion and superior sagittal sinus thrombosis were independently associated with seizure onset after CVST. Generalised seizure was the main form of seizures after CVST, which was obviously different to seizures after strokes of arterial origin.


Assuntos
Povo Asiático , Convulsões/etnologia , Trombose dos Seios Intracranianos/etnologia , Adulto , China/epidemiologia , Feminino , Mortalidade Hospitalar , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Medição de Risco , Fatores de Risco , Convulsões/diagnóstico , Convulsões/mortalidade , Trombose dos Seios Intracranianos/diagnóstico por imagem , Trombose dos Seios Intracranianos/mortalidade
19.
MSMR ; 24(12): 12-19, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29328681

RESUMO

Traumatic brain injury (TBI) is a known risk factor for seizures. Evidence also shows that post-traumatic stress disorder (PTSD) is associated with seizures, but the relationship in the absence of TBI remains unclear. This retrospective study spanning 2007-2016 separately quantifies the rates of seizures diagnosed among deployed and non-deployed active component military service members to understand the factors associated with seizures and whether they differ in deployed settings. Higher rates of seizures were associated with service members who were in the Army or Marine Corps; female; black; younger; lower enlisted; in a combat-specific, armor/motor transport, or healthcare occupation; and who had no more than one previous deployment. These associations were similar among both deployed and non-deployed service members. Either a TBI or recent PTSD diagnosis was associated with a 3- to 4-fold increased seizure rate. For service members who had received both diagnoses, seizure rates among the deployed and the non-deployed were two and three times the rates among those with only one of those diagnoses, respectively. If the current results are supported by future investigations, there may be implications for both clinical care and military policy.


Assuntos
Lesões Encefálicas Traumáticas/epidemiologia , Militares/estatística & dados numéricos , Convulsões/epidemiologia , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Adulto , Medicina Aeroespacial/estatística & dados numéricos , Fatores Etários , Comorbidade , Feminino , Humanos , Masculino , Militares/psicologia , Medicina Naval/estatística & dados numéricos , Ocupações , Estudos Retrospectivos , Convulsões/etnologia , Fatores Sexuais , Estados Unidos/epidemiologia , Adulto Jovem
20.
Neurocrit Care ; 27(1): 90-95, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28000125

RESUMO

BACKGROUND: Traumatic brain injury (TBI) is a well-known risk factor for seizures. We aimed to identify the frequency and risk factors for seizure occurrence during hospitalization for TBI. METHODS: We used ICD-9-CM codes to identify patients 18 years of age or older from the National Trauma Data Bank who were admitted with TBI. We also used ICD-9-CM codes to identify the subset who had seizures during hospitalization. Patient demographics, comorbidities, Glasgow Coma Scale (GCS) score, Injury Severity Score Abbreviated Injury Scale (ISSAIS), in-hospital complications, and discharge disposition were compared in the seizure group (SG) and no-seizure group (NSG). RESULTS: A total of 1559 patients had in-hospital seizures, comprising 0.4% of all patients admitted with TBI. The mean age of SG was 3 years older than NSG [51 vs. 48; p < 0.0001]. African-American ethnicity (20 vs. 12%, p < 0.0001) and moderate TBI (8 vs. 4%, p < 0.0001) were more common in SG. History of alcohol dependence was more common in the SG (25 vs. 11%, p < 0.0001). Fall was the most common mechanism of injury in SG (56 vs. 36% in NSG; p < 0.0001). Subdural hematoma was more common in SG (31 vs. 21%, p < 0.0001). SG had higher rates of pneumonia, ARDS, acute kidney injury, and increased ICP. The average length of hospital stay was significantly higher in SG (10 vs. 6 days, p < 0.0001), and these patients had higher rate of discharge to nursing facility (32 vs. 25%, p < 0.0001). CONCLUSION: In-hospital seizures occur in 0.4% of all TBI patients. Although infrequent, seizure occurrence is associated with higher rates of hospital complications such as pneumonia and ARDS and is an independent predictor of longer hospital stay and worse hospital outcome.


Assuntos
Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/diagnóstico , Lesões Encefálicas Traumáticas/epidemiologia , Avaliação de Resultados em Cuidados de Saúde , Convulsões/diagnóstico , Convulsões/epidemiologia , Convulsões/etiologia , Lesões Encefálicas Traumáticas/etnologia , Bases de Dados Factuais , Feminino , Escala de Coma de Glasgow , Humanos , Escala de Gravidade do Ferimento , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Convulsões/etnologia
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