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BACKGROUND AND PURPOSE: Seizure severity has been increasingly gaining attention as a complementary assessment to seizure frequency for the measurement of treatment responses. This study aimed to assess the reliability and external validity and of the Persian version of the Seizure Severity Questionnaire (SSQ). METHODS: The study sample was recruited from 126 patients with epilepsy who attended the neurology outpatient clinic at Imam Khomeini and Roozbeh hospitals, Tehran, Iran. The Forward-Backward technique was applied to translate the questionnaire. The reliability of SSQ was assessed by Cronbach's alpha coefficient. The external validity of SSQ was assessed by correlating SSQ scores with Quality of Life in Epilepsy Inventory-31 (QOLIE-31) subscales. RESULTS: The sample comprised 63 women (50%) and 63 men (50%) aged 13-76â¯years. The mean scores of SSQ items ranged from 3.46 to 5.48. Distribution was skewed for all component scores, with a tendency for the item scores to concentrate toward the highest scores. Reliability for almost all domains were moderate to good, with Cronbach's alpha ranging from 0.615 to 0.770. Component B to D and total score of SSQ had weak-to-moderate inverse correlation with QOLIE-31 subscale scores. However, the result showed no significant correlation with age, sex, or education. CONCLUSION: With some limitations, the Persian version of the SSQ shows relatively good reliability and content validity, supporting its use as a specific measure of seizure severity in epilepsy in Iran.
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Qualidade de Vida , Convulsões , Adolescente , Adulto , Idoso , Feminino , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Psicometria/métodos , Reprodutibilidade dos Testes , Convulsões/diagnóstico , Inquéritos e Questionários , Adulto JovemRESUMO
Objective: The prevalence of migraine is higher in patients with gastrointestinal disorders. Possible underlying mechanisms could be increased intestinal permeability and systemic inflammation. Probiotics may reduce gut permeability as well as inflammation, and therefore may improve the clinical features of migraine. This systematic review and meta-analysis aimed to evaluate the impact of probiotic supplementation on the frequency and severity of migraine attacks.Methods: A systematic review of the literature was conducted using ISI Web of Science, PubMed/Medline, Scopus, Cochrane Library, EMBASE, Google Scholar, Magiran.com and Sid.ir to identify eligible studies published up to October 2019. A meta-analysis of eligible trials was performed using the random-effects model to estimate pooled effect size.Results: Three randomized controlled trials with 179 patients (probiotic group = 94, placebo group = 85) were included. Probiotic supplementation had no significant effect on frequency (weighted mean difference (WMD) = -2.54 attacks/month, 95%CI: -5.31-0.22, p = 0.071) and severity of migraine attacks (WMD = -1.23 visual analog scale (VAS) score, 95%CI = -3.37-0.92, p = 0.262) with significant heterogeneity among the studies (I2 = 98%, p < 0.001).Conclusions: A pooled analysis of available randomized controlled clinical trials showed that probiotic supplementation had no significant effect on the frequency and severity of episodic migraine attacks.
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Transtornos de Enxaqueca , Probióticos , Humanos , Inflamação , Transtornos de Enxaqueca/prevenção & controle , Probióticos/uso terapêutico , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
Introduction: Migraine is a disabling neurovascular disorder characterized by increasing levels of pro-inflammatory cytokines and oxidative stress biomarkers. Curcumin and coenzyme Q10 (CoQ10) can exert neuroprotective effects through modulation of inflammation and oxidative stress. The aim of the present study was to evaluate the combined effects of nano-curcumin and CoQ10 supplementation on migraine symptoms and quality of life in migraine patients.Methods: One-hundred men and women (mean age 32 years) with episodic migraine based on the International Headache Society (IHS) criteria participated in this study. The subjects were randomly divided into four groups as (1) combination of nano-curcumin (80â mg) plus CoQ10 (300â mg), (2) nano-curcumin (80â mg), (3) CoQ10 (300â mg) and (4) the control (nano-curcumin and CoQ10 placebo included oral paraffin oil) beside usual prophylactic drugs for 8 weeks. Frequency, severity, duration of headache attacks, the headache diary results (HDR) and headache disability based on migraine-specific questionnaires were assessed at the baseline and end of the study.Results: Ninety-one of 100 patients completed the study. The results showed a significant effect of nano-curcumin and CoQ10 supplementation on frequency, severity, duration of migraine attacks and HDR compared to other groups (All P < 0.001). Nano-curcumin and CoQ10 group also had better scores in migraine-specific questionnaires at the end of the study compared to other groups (All P < 0.001). There were no side effects reported by the participants.Conclusions: These findings suggest a possible synergistic effect of nano-curcumin and CoQ10 on clinical features of migraine.Trial registration number: IRCT2017080135444N1.
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Curcumina , Transtornos de Enxaqueca , Fármacos Neuroprotetores , Ubiquinona/análogos & derivados , Adulto , Biomarcadores , Curcumina/uso terapêutico , Suplementos Nutricionais , Método Duplo-Cego , Feminino , Humanos , Inflamação , Masculino , Transtornos de Enxaqueca/prevenção & controle , Estresse Oxidativo , Qualidade de Vida , Ubiquinona/uso terapêuticoRESUMO
Objective: Coenzyme Q10 is an antioxidant and an essential mitochondrial cofactor which has been suggested to improve the clinical features of migraine. Several randomized clinical trials have examined the effects of Coenzyme Q10 on migraine with inconclusive results. The aim of this systematic review and meta-analysis was to evaluate the impact of Coenzyme Q10 supplementation on the frequency, severity, and duration of migraine attacks. Methods: A systematic review of the literature was conducted using ISI Web of Science, PubMed, Cochrane library and Scopus to identify eligible studies up to April 2018. Studies included were randomized clinical trials of Coenzyme Q10 supplementation that reported the frequency, severity, or duration of migraine attacks as a primary outcome. A meta-analysis of eligible studies was performed using the fixed effects model or the random effects model to estimate pooled effect size. Results: Four randomized clinical trials with 221 participants were included. Coenzyme Q10 supplementation significantly reduced the frequency of migraine attacks (weighted mean difference: -1.87 attacks/month, 95% CI: -2.69 to -1.05, p < 0.001) without significant heterogeneity among the studies (I 2 = 36.6%, p = 0.192). Coenzyme Q10 supplementation had no significant effect on severity (weighted mean difference: -2.35 visual analog scale score, 95% CI: -5.19 to 0.49, p = 0.105) and duration of migraine attacks (weighted mean difference: -6.14â h, 95% CI: -13.14 to 0.87, p = 0.086) with high heterogeneity. Conclusion: Pooled analyses of available randomized clinical trials suggest that Coenzyme Q10 supplementation may reduce the frequency of migraine attacks per month without affecting the severity or duration of migraine attacks.
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Antioxidantes/administração & dosagem , Transtornos de Enxaqueca/dietoterapia , Ubiquinona/análogos & derivados , Suplementos Nutricionais , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Resultado do Tratamento , Ubiquinona/administração & dosagemRESUMO
OBJECTIVE: Epilepsy is a disease of Central Nervous System (CNS) characterized by abnormal brain activity and recurrent seizures and is considered a clinically and genetically heterogeneous disease. Here, we investigated pathogenic genetic alteration and described the clinical characteristics of three Iranian family members affected by Idiopathic Generalized Epilepsy (IGE) with and without intellectual disability. METHODS: A non-consanguineous Iranian family with juvenile myoclonic epilepsy was enrolled in the study. The comprehensive neurological evaluation included motor and sensory skills, vision, hearing, speech, coordination, and mood. Whole-exome Sequencing (WES) was performed on the proband to detect probable pathogenic variant, and after the filtering process, probable variants were evaluated with familial segregation analysis using Sanger sequencing. RESULTS: Using WES, we identified a heterozygous missense substitution (NM_023035.3:c.T677G:p.Leu226Trp) in CACNA1A gene in the studied family with juvenile myoclonic epilepsy with and without intellectual disability and psychiatric phenotype. Considering the patients' clinical synopsis, familial segregation analysis, and literature review, we postulated this variant to be causative of the disease. Indeed, the resulting missense mutation of Leu226Trp affects a highly conserved residue supporting our hypothesis that this mutation is potentially pathogenic. CONCLUSION: To the best of our knowledge, this is the first report of juvenile myoclonic epilepsy related to CACNA1A gene. Our results provide evidence for expanding the clinical and molecular findings related to the CACNA1A gene.
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Epilepsia Generalizada , Deficiência Intelectual , Epilepsia Mioclônica Juvenil , Canais de Cálcio/genética , Epilepsia Generalizada/genética , Humanos , Deficiência Intelectual/genética , Irã (Geográfico) , Epilepsia Mioclônica Juvenil/genética , Linhagem , Sequenciamento do ExomaRESUMO
ABSTRACT: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune demyelinating disease of the central nervous system, characterized by a specific antibody that selectively binds aquaporin-4 channel.This is a report of an NMOSD case, with severe attacks of optic neuritis and myelitis after initiate of dimethyl fumarate (DMF).We suggested that DMF could deteriorate the neuromyelitis optica (NMO) disease course, which results in serious morbidity and mortality in patients. Thus, initiation of DMF should be avoided before ruling out NMOSD in patients experiencing demyelinating attacks, especially in the case of recurrent optic neuritis or myelopathy and concurrency of other rheumatologic diseases.
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Fumarato de Dimetilo/efeitos adversos , Imunossupressores/efeitos adversos , Neuromielite Óptica/induzido quimicamente , Neuromielite Óptica/diagnóstico por imagem , Índice de Gravidade de Doença , Feminino , Humanos , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/tratamento farmacológico , Neurite Óptica/diagnóstico por imagem , Neurite Óptica/tratamento farmacológico , Recidiva , Resultado do TratamentoRESUMO
BACKGROUND: Epilepsy is a neurological disorder characterized by the potential to induce seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A gene is a voltage-gated P/Q-type Cav2.1 channel that is broadly expressed in the central nervous system, and the pathogenic variants within this gene may be associated with the epileptic phenotype. In the present study, we collected clinical and molecular data related to epileptic patients with CACNA1A pathogenic variants and investigated possible meaningful relationship between age at onset, neurodevelopmental disorders, type of seizures, brain imaging abnormalities, genotype, and protein domains. RESULTS: In our retrospective literature studies, from among 890 articles reviewed, a total of 90 individuals were related to epilepsy phenotype. Our findings showed that about 90 percent of patients have shown the first symptoms in childhood and teenage years and different types of neurodevelopmental disorders, such as intellectual disability, developmental arrest, and behavioral disorders, have been common findings for these patients. Further, a wide range of abnormalities have been observed in their brain imaging, and generalized seizures have been the most type of seizures in these patients. However, our data showed no specific genotype-phenotype correlation in epileptic patients with CACNA1A pathogenic alterations. CONCLUSIONS: Our study focused on epileptic phenotype in patients with CACNA1A pathogenic variants and showed a wide range of clinical and molecular heterogeneity with no specific genotype-phenotype correlation. It seems that incomplete penetrance, de-novo variants, and modifier genes are obstacles in predicting the clinical outcome.
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Canais de Cálcio Tipo Q , Canais de Cálcio/genética , Epilepsia , Adolescente , Canais de Cálcio Tipo N/genética , Epilepsia/genética , Humanos , Estudos RetrospectivosRESUMO
BACKGROUND: There is an increased attention to stroke following SARS-CoV-2. The goal of this study was to better depict the short-term risk of stroke and its associated factors among SARS-CoV-2 hospitalized patients. METHODS: This multicentre, multinational observational study includes hospitalized SARS-CoV-2 patients from North and South America (United States, Canada, and Brazil), Europe (Greece, Italy, Finland, and Turkey), Asia (Lebanon, Iran, and India), and Oceania (New Zealand). The outcome was the risk of subsequent stroke. Centres were included by non-probability sampling. The counts and clinical characteristics including laboratory findings and imaging of the patients with and without a subsequent stroke were recorded according to a predefined protocol. Quality, risk of bias, and heterogeneity assessments were conducted according to ROBINS-E and Cochrane Q-test. The risk of subsequent stroke was estimated through meta-analyses with random effect models. Bivariate logistic regression was used to determine the parameters with predictive outcome value. The study was reported according to the STROBE, MOOSE, and EQUATOR guidelines. FINDINGS: We received data from 26,175 hospitalized SARS-CoV-2 patients from 99 tertiary centres in 65 regions of 11 countries until May 1st, 2020. A total of 17,799 patients were included in meta-analyses. Among them, 156(0.9%) patients had a stroke-123(79%) ischaemic stroke, 27(17%) intracerebral/subarachnoid hemorrhage, and 6(4%) cerebral sinus thrombosis. Subsequent stroke risks calculated with meta-analyses, under low to moderate heterogeneity, were 0.5% among all centres in all countries, and 0.7% among countries with higher health expenditures. The need for mechanical ventilation (OR: 1.9, 95% CI:1.1-3.5, p = 0.03) and the presence of ischaemic heart disease (OR: 2.5, 95% CI:1.4-4.7, p = 0.006) were predictive of stroke. INTERPRETATION: The results of this multi-national study on hospitalized patients with SARS-CoV-2 infection indicated an overall stroke risk of 0.5%(pooled risk: 0.9%). The need for mechanical ventilation and the history of ischaemic heart disease are the independent predictors of stroke among SARS-CoV-2 patients. FUNDING: None.
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Infecções por Coronavirus/diagnóstico , Pneumonia Viral/diagnóstico , Acidente Vascular Cerebral/diagnóstico , Adulto , Idoso , Betacoronavirus/isolamento & purificação , COVID-19 , Infecções por Coronavirus/complicações , Infecções por Coronavirus/virologia , Feminino , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/virologia , Fatores de Risco , SARS-CoV-2 , Acidente Vascular Cerebral/complicações , Centros de Atenção TerciáriaRESUMO
The reduction of brain-derived neurotrophic factor (BDNF) affects cognitive function, learning, and memory and also causes behavioral disorders. Several randomized controlled trials have examined the neuroprotective effects of curcumin and its ability to increase BDNF levels, with inconclusive results. The aim of this systematic review was to evaluate the impact of curcumin supplementation on serum BDNF levels. A systematic review of the literature was conducted using PubMed, Scopus, ISI Web of Science, Cochrane library, and Google scholar to identify eligible studies up to January 2019. The studies included were randomized control trials of curcumin supplementation that reported the serum BDNF level as a primary outcome. A dose-response meta-analysis of eligible studies was performed using the random-effects model to estimate pooled effect size. Four randomized control trials with 139 participants were included. Curcumin supplementation dose and duration ranged from 200 to 1820â¯mg/d and 8 to 12â¯weeks, respectively. Curcumin supplementation significantly increased serum BDNF levels (weighted mean difference: 1789.38â¯pg/mL, 95% confidence interval: 722.04-2856.71, Pâ¯<â¯.01) with significant heterogeneity among the studies (I2â¯=â¯83.5%, Pâ¯<â¯.001). Subgroup analysis showed that sex, mean age of participants, curcumin dosage, and trial duration were potential sources of heterogeneity. The significant positive impact of curcumin supplementation on BDNF levels indicates its potential use for neurological disorders that are associated with low BDNF levels.
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Anti-Inflamatórios não Esteroides/farmacologia , Fator Neurotrófico Derivado do Encéfalo/sangue , Fator Neurotrófico Derivado do Encéfalo/efeitos dos fármacos , Curcumina/farmacologia , Suplementos Nutricionais , Adulto , Anti-Inflamatórios não Esteroides/sangue , Biomarcadores/sangue , Curcumina/metabolismo , Feminino , Humanos , Masculino , TempoRESUMO
The anti-inflammatory role of the active metabolite of vitamin D, namely 1, 25-dihydroxyvitamin D3 (calcitriol), has been reported in multiple sclerosis (MS). Moreover, recent studies have shown that fibroblast growth factor 23 (FGF23) is involved in the regulation of calcitriol biosynthesis. The probable changes of FGF23 and calcitriol concentrations in the CSF and serum of patients with MS were evaluated. Calcitriol concentration in the CSF and serum of MS patients was significantly higher than that in non-MS patients, while FGF23 concentration in MS patients was comparable to controls. We concluded that calcitriol concentration increases in the CSF and serum of MS patients independent of FGF23 status.
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Calcitriol/metabolismo , Fatores de Crescimento de Fibroblastos/metabolismo , Esclerose Múltipla Recidivante-Remitente/metabolismo , Adulto , Biomarcadores/análise , Feminino , Fator de Crescimento de Fibroblastos 23 , Humanos , Masculino , Estudos RetrospectivosRESUMO
Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families. Methods Four pedigrees with X-ALD consisting of patients and healthy members were selected for investigation of ABCD1 gene mutations. The mutation analysis was performed by polymerase chain reaction (PCR) followed by direct sequencing of all exons. The identified mutations were investigated using bioinformatics tools to predict their effects on the protein product and also to compare the mutated sequence with close species. Results One previously known missense mutation (c.1978 C > T) and three novel mutations (c.1797dupT, c.879delC, c.1218 C > G) were identified in the ABCD1 gene, each in one family. Predicting the effects of the mutations on protein structure and function indicated the probable damaging effect for them with significant alterations in the protein structure. We found three novel mutations in the ABCD1 gene with damaging effects on its protein product and responsible for X-ALD.