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1.
J Peripher Nerv Syst ; 29(1): 72-81, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38291679

RESUMO

BACKGROUND AND AIMS: This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul. METHODS: Patients with GBS were prospectively recruited between April 2019 and March 2022 and two electrodiagnostic examinations were performed on each patient. The criteria of Ho et al., Hadden et al., Rajabally et al., and Uncini et al. were compared for the differentiation of demyelinating and axonal subtypes, and their relations with anti-ganglioside antibodies were analyzed. RESULTS: One hundred seventy-seven patients were included, 69 before the coronavirus disease 2019 pandemic (April 2019-February 2020) and 108 during the pandemic (March 2020-March 2022), without substantial changes in monthly frequencies. As compared with the criteria of Uncini et al., demyelinating GBS subtype diagnosis was more frequent according to the Ho et al. and Hadden et al. criteria (95/162, 58.6% vs. 110/174, 63.2% and 121/174, 69.5%, respectively), and less frequent according to Rajabally et al.'s criteria (76/174, 43.7%). Fourteen patients' diagnoses made using Rajabally et al.'s criteria were shifted to the other subtype with the second electrodiagnostic examination. Of the 106 analyzed patients, 22 had immunoglobulin G anti-ganglioside antibodies (14 with the axonal subtype). They had less frequent sensory symptoms (54.5% vs. 83.1%, p = 0.009), a more frequent history of previous gastroenteritis (54.5% vs. 22.9%, p = 0.007), and a more severe disease as compared with those without antibodies. INTERPRETATION: Serial electrodiagnostic examinations are more helpful for accurate subtype diagnosis of GBS because of the dynamic pathophysiology of the disease. We observed no significant increase in GBS frequency during the pandemic in this metropolis.


Assuntos
Síndrome de Guillain-Barré , Humanos , Estudos Prospectivos , Condução Nervosa/fisiologia , Eletrodiagnóstico/métodos , Gangliosídeos , Anticorpos
2.
Neurol Sci ; 43(7): 4393-4403, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35211811

RESUMO

BACKGROUND: Autoimmune encephalitis (AIE) and paraneoplastic syndromes (PNS) are both rare groups of neurological diseases that are difficult to diagnose. AIM: We aimed to determine the common and distinct aspects of these two aetiologies of encephalitis as well as the characteristics of our patient group. METHODS: We respectively analysed the records of the patients including symptoms, demographic features, neurological examination, cranial-magnetic-resonance-imaging (MRI), electroencephalography (EEG) findings, cerebrospinal fluid results (CSF) findings. Autoimmune/paraneoplastic autoantibodies in blood and/or CSF were all documented. RESULTS: Forty-six patients fulfilled the diagnostic criteria. Thirty-eight of them were diagnosed with AIE, and 8 of them were diagnosed with PNS. The PNS group had higher nonconvulsive status epilepticus than the AIE (2/8 vs 0/38; p=0.027). PNS patients were diagnosed with a malignancy in their follow-ups more than those in the AIE group [4/38 vs 8/8] (p<0.001). When the symptoms of antibody-positive and negative patients were compared in the AIE group, the rates of consciousness/memory problems (13/15 vs 11/23; p=0.020) and speech impairment (8/15 vs 2/23; p=0.004) were significantly higher in patients without antibodies (n: 15) than in antibody-positive patients (n: 23). In antibody-negative groups, the rates of memory problems in neurological examination (13/15 vs 12/23 p=0.028) and temporal findings on electroencephalography were more prominent than antibody-positive groups (1/23 vs 5/15; p=0.027). The number of patients with cerebellar signs was higher in antibody-positive patients (6/23 vs 0/15; p=0.038). CONCLUSION: Although the positivity of autoantibodies is critical in the diagnosis of AIE and PNS, even minor differences in clinical and laboratory findings of patients are helpful in the diagnosis, especially in the autoantibody-negative patients. Comparing the data with other population studies has shown that several inherited and environmental factors may contribute to the pathophysiology of AIE and PNS, as well as clinical and laboratory differences.


Assuntos
Encefalite , Síndromes Paraneoplásicas , Autoanticorpos , Encefalite/diagnóstico , Encefalite/epidemiologia , Doença de Hashimoto , Humanos , Turquia/epidemiologia
3.
Neuropediatrics ; 45(5): 309-13, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24875585

RESUMO

BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a late complication of measles infection. Immune dysfunction related to genetic susceptibility has been considered in disease pathogenesis. A functional single nucleotide polymorphism (SNP) of granzyme B gene (GZMB) reported in several pathologies may also be involved in susceptibility to SSPE. PATIENTS AND METHODS: An SNP (rs8192917, G → A, R→Q) was screened in 118 SSPE patients and 221 healthy controls (HC) by polymerase chain reaction-restriction fragment length polymorphism. Frequencies were compared between groups. In vitro production of GZMB was measured in controls with different genotypes. RESULTS: The SNP had a minor allele (G) frequency of 0.22 in patients and 0.31 in controls. GG genotype was significantly less frequent in patients (odds ratio, 0.23). G allele carriers produced relatively higher levels of GZMB, when stimulated in vitro. CONCLUSION: These findings implicate possible effect of this genetic polymorphism in susceptibility to SSPE which needs to be confirmed in bigger populations.


Assuntos
Predisposição Genética para Doença/genética , Granzimas/genética , Polimorfismo de Nucleotídeo Único/genética , Panencefalite Esclerosante Subaguda/genética , Adolescente , Adulto , Antígenos CD , Criança , Pré-Escolar , Citocinas/metabolismo , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Lactente , Masculino , Adulto Jovem
4.
Epileptic Disord ; 16(2): 197-202, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24777033

RESUMO

AIM: Panayiotopoulos syndrome (PS) is an age-related seizure susceptibility syndrome that affects the central autonomic system. Although the majority of the few ictal recordings obtained so far suggest an occipital origin, semiological and interictal EEG data appear to favour more extensive involvement. In this study, the characteristics (including those based on semiology and EEG) of children with Panayiotopoulos syndrome (n=24) and those with lesion-related, symptomatic occipital lobe epilepsy (SOLE) (n=23) were compared. METHODS: Detailed semiological information and EEG parameters including the localisation, distribution, density (n/sec), reactivity, and morphological characteristics of spike-wave foci and their relationship with different states of vigilance were compared between the two groups. RESULTS: The age at seizure onset was significantly younger in patients with symptomatic occipital lobe epilepsy than in those with PS (mean age at onset: 3.4 versus 5.6 years, respectively; p=0.044). Autonomic seizures (p=0.001) and ictal syncope (p=0.055) were more frequent in PS than in symptomatic occipital lobe epilepsy (87.5% and 37.5% versus 43.5% and 13%, respectively). The interictal spike-wave activity increased significantly during non-rapid eye movement (non-REM) sleep in both groups. The spike waves in non-REM seen in PS tended to spread mainly to central and centro-temporal regions. CONCLUSIONS: The results indicate that although common features do exist, Panayiotopoulos syndrome differs from symptomatic occipital lobe epilepsy and has a unique low epileptogenic threshold related to particular brain circuits.


Assuntos
Eletroencefalografia , Epilepsias Parciais/fisiopatologia , Convulsões/fisiopatologia , Idade de Início , Nível de Alerta , Encéfalo/patologia , Criança , Pré-Escolar , Epilepsias Parciais/epidemiologia , Epilepsias Parciais/patologia , Feminino , Humanos , Hipóxia Encefálica/etiologia , Hipóxia Encefálica/fisiopatologia , Deficiência Intelectual/complicações , Imageamento por Ressonância Magnética , Masculino , Convulsões/epidemiologia , Convulsões/patologia , Fatores Sexuais , Síndrome
5.
Noro Psikiyatr Ars ; 61(1): 85-89, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38496228

RESUMO

Introduction: We aimed to investigate the long-term prognosis of childhood absence epilepsy (CAE), and identify factors associated with treatment outcomes. Methods: Patients with a definitive diagnosis of CAE according to the International League Against Epilepsy 2021 criteria and with a minimum of 3-year follow-up duration were included. The children were divided according to the time of seizure control. Early seizure remission was defined as seizure freedom within 6 months after the treatment onset. Results: Twenty-four patients with a mean age of 13.7 (9.4-22.0) were included in this study. At the final follow-up, all patients were seizure-free except for one case. Seizure freedom was achieved after initial treatment in a mean of 0.78 years. The treatment was ceased in 19 children (79.2%) after a mean of 3.2 years. Patients having absence seizures without motor components had a higher rate of early seizure remission (p=0.026). In 81.3% of the patients; all of whose repetitive post-treatment EEGs were devoid of any generalized spike-wave discharges and absence seizures; remission was established within 6 months or less (p=0.026). Conclusions: CAE has a favorable prognosis with seizure control obtained in the majority of the cases and more than half of them were obtained within 6 months following the initiation of treatment. Moreover, having an absence seizure without motor components and repetitively normal post-treatment EEGs appear to be associated with a higher rate of early seizure remission.

6.
Noro Psikiyatr Ars ; 60(1): 37-42, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36911562

RESUMO

Introduction: In this cross-sectional study, whether there is a difference in the prevalence of developmental/behavioral problems in children of those who received mono/polytherapy during pregnancy; How Valproic Acid (VPA) exposure affects developmental/behavioral characteristics compared to other antiseizure medications (ASM) was also investigated. Method: 64 children of 46 women with epilepsy (WWE) with children aged 0-18 years were included. Ankara Development and Screening Inventory (ADSI) for their children up to the age of six and The Child Behavior Checklist for Ages 4-18-CBCL/4-18 scale was applied for the ages of 6-18. Children exposed to prenatal ASM were divided into two groups as polytherapy and monotherapy. Children exposed to monotherapy were investigated by drug exposure, as well as exposure to VPA and other ASMs. Chi-square test was used to compare qualitative variables. Results: When monotherapy and polytherapy groups were compared, a significant difference was found in the language cognitive development area of the ADSI (p=0.015) and in terms of the sports activity variable in CBCL/4-18 (p=0.039). When the VPA monotherapy and other ASM monotherapy groups were compared, a significant difference was found in terms of sports activity in CBCL-4-18 (p=0.013). Conclusion: It was found that language and cognitive development can be delayed, the level of engagement in sports activities can be reduced in children exposed to polytherapy. The rate of doing sports activities in valproic acid monotherapy exposure may decrease.

7.
Pediatr Neurol ; 144: 110-114, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37229878

RESUMO

BACKGROUND: Epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) is a syndrome of childhood, characterized by diffuse or generalized spike-wave activity in electroencephalography during non-rapid eye movement sleep. Neuropeptides have been demonstrated in several studies to function in the sleep-wake cycle and display convulsant and anticonvulsant features. In this study, we aimed to investigate the relationship between EE-SWAS and neuropeptides such as dynorphin, galanin, ghrelin, leptin, melatonin, and orexin. METHODS: This multicenter study was conducted from July 2019 to January 2021. There were three groups: Group 1 contained patients with EE-SWAS. Group 2 consisted of patients with self-limited focal epilepsy of childhood (SeLFE), and group 3 was the control group. Levels of neuropeptides were compared in the sera of these three groups. RESULTS: There were 59 children aged between four and 15 years. Group 1 contained 14 children, group 2 contained 24 children, and group 3 contained 21 children. The level of leptin is higher and the level of melatonin is lower in group 1 than in group 3 (P = 0.01 and P = 0.005, respectively). In group 3, the level of orexin was lower than in both groups 2 and 3 (P = 0.01 and P = 0.01). CONCLUSIONS: These data show that the level of leptin was higher and the level of melatonin was lower in patients with EE-SWAS than in the control group. Furthermore, patients with EE-SWAS had lower orexin levels than both the control group and patients with SeLFE. Further research is required to understand the potential role of these neuropeptides in the pathophysiology of EE-SWAS.


Assuntos
Epilepsias Parciais , Epilepsia Generalizada , Melatonina , Estado Epiléptico , Criança , Humanos , Pré-Escolar , Adolescente , Orexinas , Leptina , Sono/fisiologia , Eletroencefalografia
8.
Noro Psikiyatr Ars ; 60(2): 104-109, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37287561

RESUMO

Introduction: Increasing migration, due to wars, is one of the environmental factors in the etiology of multiple sclerosis. This study aims to compare demographic and clinical features of immigrant and local MS patients, as well as relapses during pregnancy and postpartum in female patients. Method: Immigrant (Group 1) and local (Group 2) MS patients were evaluated between January 2019 - September 2020 retrospectively. Below-mentioned data of two groups were recorded and compared: i) demographic data, ii) cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) findings, iii) MS subtypes, iv) expanded disability status scores (EDSS), v) the time between first two relapses, vi) comorbidities, vii) treatment, viii) age of migration and country of origin, ix) pregnancy, x) relapse during pregnancy, xi) birth number, xii) breastfeeding, xiii) postpartum relapses. Results: Both of the groups were composed of 34 MS patients (in total n=68). Gender distribution, mean age, MS subtypes, the time between first two relapses, disease duration, EDSS, CSF findings and comorbidities were similar between groups. Symptom of onset was predominantly sensory in both groups. Local patients had more cervical lesions and higher lesion load (p=0.003, p=0.006). 20.6% of migrant MS patients were untreated, all local patients were on treatment. Rates of injection and infusion therapies were similar, the rate of receiving oral therapy was higher in the second group. Clinical features and fertility status of female patients were similar. Conclusion: According to the study no differences were preseentpresent between immigrant and local MS patients except for MRI lesion load and treatment parameters. The language barrier and irregular follow-ups were the major problems in treatment management.

9.
Neurophysiol Clin ; 52(4): 280-289, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35953417

RESUMO

OBJECTIVE: To analyze the ictal and interictal electroencephalographic (EEG) features in newly diagnosed childhood absence epilepsy (CAE) and determine the association between seizure onset topography, interictal focal spike-wave discharges (FSWDs) and accompanying clinical features of absence seizures. METHODS: The authors searched the EEG database for a definite diagnosis of CAE according to ILAE 2017 criteria. Video-EEGs of untreated pediatric patients during sleep and wakefulness were evaluated retrospectively. RESULTS: The study included 47 patients (25 males, 22 females). Interictal FSWDs were observed in 49% of patients with CAE during wakefulness and in 85.1% during sleep (p = 0.001). Interictal FSWDs were most frequently observed in the frontal regions (awake: 34%; asleep: 74.5%), followed by the posterior temporoparietooccipital region (awake: 21.2%; asleep: 36.1%), and the centrotemporal region (awake: 6.4%; asleep: 8.5%). Eleven patients (23.4%) had polyspikes during sleep. Both bilateral symmetric and asymmetric seizure onset were noted in 32%, whereas focal seizure onset was observed in 14.9% of the patients. Absence seizures with and without motor components were seen in 72.3% and 61.7% of patients, respectively, and in 33% of patients both occurred. There were no associations between the existence of interictal FSWDs, focal/asymmetric seizure onset, and absence seizures with and/or without motor components. CONCLUSION: Asymmetric and/or focal seizure onset, interictal FSWDs, and absence seizures with motor components are commonly observed in drug-naive CAE. This study found no association between seizure onset topography, interictal FSWDs, and semiological features of absence seizures.


Assuntos
Epilepsia Tipo Ausência , Criança , Eletroencefalografia , Epilepsia Tipo Ausência/diagnóstico , Feminino , Humanos , Masculino , Estudos Retrospectivos , Convulsões/diagnóstico , Sono
10.
Noro Psikiyatr Ars ; 59(3): 197-200, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36160073

RESUMO

Introduction: Conventional nerve conduction studies (NCS) are used in the electrodiagnosis of diabetic neuropathy. The aim of our study was to investigate diabetic small fiber neuropathy in newly diagnosed type 2 diabetes mellitus (DM) patient group by using autonomic tests. Methods: Our study was conducted on 49 patients (24 female, 25 male) who were newly diagnosed with type 2 DM in the last 3 months and a control group of 25 volunteers. In addition to conventional NCS, sympathetic skin response (SSR) and RR interval variability (RRIV) tests were performed. Results: The mean upper limb SSR latency of the patient group was more prolonged than that of the control group, whereas the mean lower limb SSR amplitude of the patient group was lower than that of the control group (p=0.002, p<0.001; respectively). The mean resting (R) and deep inspiration (D) RRIV values of the patient group were lower than that of the control group (p=0.037, p<0.001; respectively). In the patient group, the mean R-RRIV and D-RRIV values were found to be positively correlated with the lower limb SSR amplitude (r=0.006, r=0.011; respectively). The mean R-RRIV and D-RRIV change rate of the patient group (D-R)/R was found to be lower than that of the control group (p=0.002). Conclusion: In our study, we showed that autonomic function tests were impaired in newly diagnosed type 2 DM patients who were found not to have diabetic polyneuropathy by standard electrophysiological study. These findings suggest that standard electrophysiological tests are not sufficient in the early stages of the disease.

11.
Parkinsonism Relat Disord ; 105: 128-131, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36434917

RESUMO

BACKGROUND: Hyperekplexia is a disease that progresses with excessive startle attacks and is included in the differential diagnosis of epilepsy and many movement disorders. METHODS: The WES results were validated in available family members by Sanger sequencing, or in the case of deletion, PCR followed by agarose gel electrophoresis was performed. RESULTS: WES analysis revealed the previously reported homozygous c.277C>T p.Arg93Trp variant in the GLRA1 gene (ENST00000455880.2) in Family 1. In all other three families, the previously reported homozygous deletion of exons 1-7 of the GLRA1 gene was identified using CNV analysis based on the WES data. CONCLUSIONS: The homozygous exon1-7 deletion has been described several times in different populations and may be a founder mutation in the Kurdish people in Turkey. The family with Arg93Trp variant stems from the Black Sea region of Turkey where close consanguinity is common. These analyses are important to provide genetic counseling to families and for a better understanding of the pathophysiology of the disease.


Assuntos
Hiperecplexia , Humanos , Mutação de Sentido Incorreto/genética , Homozigoto , Turquia , Deleção de Sequência/genética , Éxons/genética
12.
Neurohospitalist ; 12(3): 520-523, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35747763

RESUMO

COVID-19 has been associated with central nervous system manifestations; however, cerebral venous thrombosis is rarely reported. A 34-year-old woman was admitted to the hospital with headache and recurrent seizures; she was recently discharged after COVID-19 pneumonia. Cranial magnetic resonance imaging and magnetic resonance venography showed cortical vein thrombosis in the right frontal lobe. SARS-CoV-2 RNA was detected in cerebrospinal fluid analysis. The patient was anticoagulated and put on antiepileptics. The most probable mechanism underlying the venous thrombosis is COVID-19-associated hypercoagulability. However, the relation between the viral RNA in cerebrospinal fluid analysis and the thrombosis is controversial.

13.
Childs Nerv Syst ; 27(12): 2041-4, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22002104

RESUMO

PURPOSE: The typical clinical presentation of subacute sclerosing panencephalitis (SSPE) includes behavioral and intellectual changes followed by myoclonia. However, there are a considerable number of SSPE cases which present with distinct clinical features that can lead to a diagnostic difficulty. In this report, we summarize the clinical features of patients with SSPE who have uncommon presentations or features of the disease or coexisting medical conditions which may lead to diagnostic difficulties. METHODS: We studied 173 patients, all under the age of 17. Patients were included in the study group according to following criteria: onset of the disease before age 2 years, seizures occurring before the onset of myoclonia and/or behavioral symptoms, extrapyramidal or cerebellar signs and ocular manifestations as initial presenting symptoms, fulminant course including coma or death within 6 months. Additionally, patients with onset of SSPE at the setting of a known neurological disorder are defined as another group in the study. RESULTS: Out of 173 patients with SSPE who were followed in two neurology centers, 31 (17.9%) met our criteria. CONCLUSIONS: We found a relative high frequency of these clinical features. Our findings suggest that clinicians should be aware of this clinical characteristics and rule out the disease in cases were other common causes have been excluded, especially in countries with insufficient measles immunization.


Assuntos
Deficiências do Desenvolvimento/etiologia , Convulsões/etiologia , Panencefalite Esclerosante Subaguda/diagnóstico , Adolescente , Idade de Início , Criança , Pré-Escolar , Eletroencefalografia/métodos , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Imunoglobulina G/líquido cefalorraquidiano , Lactente , Masculino , Estudos Retrospectivos , Panencefalite Esclerosante Subaguda/líquido cefalorraquidiano , Panencefalite Esclerosante Subaguda/complicações , Proteínas Virais de Fusão/líquido cefalorraquidiano , Transtornos da Visão/etiologia
14.
PLoS One ; 16(1): e0245077, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33411786

RESUMO

In subacute sclerosing panencephalitis (SSPE) the persistence of measles virus (MeV) may be related to the altered immune response. In this study, cytokine responses of lymphocytes and monocytes were evaluated in SSPE compared to controls with non-inflammatory (NICON) and inflammatory (ICON) diseases. Patients with SSPE (n = 120), 78 patients with ICON and 63 patients with NICON were included in this study. Phenotypes of peripheral blood mononuclear cells (PBMC) have been analyzed by flow cytometry. CD3 and CD28, and S. aureus Cowan strain I (SAC) stimulated and unstimulated cells were cultured and IL-2, IL-10, IFN-γ, IL-12p40, IL-12p70 and IL-23 were detected in supernatants by ELISA. MeV peptides were used for MeV-specific stimulation and IFN-γ secretion of PBMC was measured by ELISPOT. Spontaneous and stimulated secretions of IL-10 were lower in SSPE compared to both control groups. T cell stimulation induced lower IFN-γ production than ICON group, but higher IL-2 than NICON group in SSPE. Stimulated PBMC produced lower IL-12p70 in SSPE and had decreased CD46 on the cell surface, suggesting the interaction with the virus. IFN-γ responses against MeV peptides were not prominent and similar to NICON patients. The immune response did not reveal an inflammatory activity to eliminate the virus in SSPE patients. Even IL-10 production was diminished implicating that the response is self-limited in controlling the disease.


Assuntos
Antígenos CD/imunologia , Citocinas/imunologia , Vírus do Sarampo/imunologia , Panencefalite Esclerosante Subaguda/imunologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Panencefalite Esclerosante Subaguda/patologia
15.
Case Rep Neurol ; 11(1): 80-86, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31543789

RESUMO

Morvan syndrome (MoS) is typically characterized by neuromyotonia, sleep dysfunction, dysautonomia, and cognitive dysfunction. However, MoS patients with mild peripheral nerve hyperexcitability (PNH) or encephalopathy features have been described. A 46-year-old woman presented with a 2-month history of constipation, hyperhidrosis, and insomnia. Neurologic examination revealed muscle twitching and needle electromyography showed myokymic discharges in all limbs. No clinical or electrophysiological features of neuromyotonia were present. Although the patient denied any cognitive symptoms, neuropsychological assessment revealed executive dysfunction, while other cognitive domains were preserved. Cranial and spinal MRIs were unrevealing and tumor investigation proved negative. Polysomnography examination revealed total insomnia, which was partially reversed upon immune-modulatory therapy. Investigation of a broad panel of antibodies revealed serum leucine-rich glioma inactivated protein 1 and contactin-associated protein 2 antibodies. The features of this case indicate that the presentation of PNH syndromes may show significant variability and that MoS patients may not necessarily exhibit full-scale PNH and encephalopathy symptoms.

16.
J Clin Neurosci ; 15(3): 246-52, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18206376

RESUMO

The aim of this study was to compare risk factors and concomitant potential cardioembolic sources detected by transthoracic (TTE) and transoesophageal echocardiography (TEE) in patients with lacunar and nonlacunar infarcts. Clinical data of 139 patients with a first episode of ischemic stroke who underwent both TTE and TEE were analysed. Patients were divided into two groups, lacunar (LACI=36), and nonlacunar infarcts (NLACI=103); then the latter group was divided into two subgroups, anterior (ACI=76) and posterior circulation infarct (POCI=27). Presence of hypertension and diabetes mellitus were not significantly different between LACI and NLACI groups. The rate of potential cardioembolic risk factors detected by echocardiography was similar in the NLACI groups. At least one potential cardiac source of embolism was identified in 44% (n=16) of LACI, 52.6% (n=40) of ACI and 55.5% (n=15) of POCI patients. Atrial fibrillation was significantly frequent in the ACI group. No significant differences were found between all groups regarding age, sex, hyperlipidemia, and smoking. Our findings demonstrate that hypertension and diabetes mellitus are equally important in the pathogenesis of both LACI and NLACI groups and there is a need for careful cardiac evaluation in cases even with lacunar infarct.


Assuntos
Infarto Encefálico/diagnóstico por imagem , Infarto Encefálico/patologia , Ecocardiografia Transesofagiana/métodos , Adolescente , Adulto , Idoso , Infarto Encefálico/etiologia , Distribuição de Qui-Quadrado , Ecocardiografia/métodos , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Índice de Gravidade de Doença , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos
17.
Turk J Pediatr ; 49(4): 385-9, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-18246739

RESUMO

Benign familial neonatal convulsions (BFNC) is a rare monogenic subtype of idiopathic epilepsy exhibiting autosomal dominant mode of inheritance. The disease is caused by mutations in the two homologous genes KCNQ2 and KCNQ3 that encode the subunits of the voltage-gated potassium channel. Most KCNQ2 mutations are found in the pore region and the cytoplasmic C domain. These mutations are either deletions/insertions that result in frameshift or truncation of the protein product, splice-site variants or missense mutations. This study reveals a novel missense mutation (N258S) in the KCNQ2 gene between the S5 domain and the pore of the potassium channel in two BFNC patients in a Turkish family. The absence of the mutation both in the healthy members of the family and in a control group, and the lack of any other change in the KCNQ2 gene of the patients indicate that N258S substitution is a pathogenic mutation leading to epileptic seizures in this family.


Assuntos
Substituição de Aminoácidos/genética , Epilepsia Neonatal Benigna/genética , Canal de Potássio KCNQ2/genética , Mutação de Sentido Incorreto , Sequência de Aminoácidos , Códon/genética , Análise Mutacional de DNA , Epilepsia Neonatal Benigna/diagnóstico , Éxons/genética , Feminino , Humanos , Lactente , Canal de Potássio KCNQ2/química , Masculino , Dados de Sequência Molecular , Linhagem , Reação em Cadeia da Polimerase , Mapeamento por Restrição , Turquia
18.
Noro Psikiyatr Ars ; 54(4): 339-342, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29321708

RESUMO

INTRODUCTION: Paroxysmal atrial fibrillation (PAF) has a similar risk with persistent AF for ischemic stroke. Holter monitorization (HM) and other long-term monitorization methods increased the detection of PAF and short-lasting runs of tachyarrhythmias. Their classification as PAF and roles in the etiology of ischemic stroke is controversial. In this study, we aimed to investigate the frequency of any duration of PAF and clinical characteristics of the patients with acute ischemic stroke who have undergone 24-hrs HM. METHODS: Patients with acute ischemic stroke and transient ischemic attack (TIA) hospitalized in the Neurology ward and undergone 24-hrs of HM during their hospital stay were included in the study. HM reports, clinical, and laboratory characteristics were analyzed, retrospectively. Patients were grouped into three based on HM: 1st group, without PAF; 2nd group, PAF >30 seconds (s) and 3rd group, PAF<30s. RESULTS: PAF of any duration was detected in 18.8% (n=49) of 261 patients. The duration of PAF was <30s in 16.1% (n=42) and >30s in 2.7% (n=7) of the patients. The mean age, left atrium diameter and CHA2DS2-VASc scores of the second group were significantly higher than the first group (p<0.001, p<0.001 and p=0.007; respectively). The mean age, left atrium diameter, modified Rankin Scores (mRS), and CHA2DS2-VASc scores of the third group were significantly higher than the first group (p<0.001; for all). There was no difference between the second and the third groups in means of mean age, left atrial diameter, MRS, and CHA2DS2-VASc scores (p<0.017, for all). CONCLUSION: In this study, 24-hrs HM in the early period of acute ischemic stroke results yielded a high frequency of PAF<30s and predictive features were in parallel with the literature.

19.
Neurophysiol Clin ; 47(3): 239-245, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28314522

RESUMO

INTRODUCTION: We aimed to determine the effect of short day-time sleep on photoparoxysmal epileptic activity in sleep-deprived patients. METHODS: We retrospectively reviewed video-EEG recordings performed between 2003 and 2015. All recordings following at least four hours of sleep deprivation, including intermittent photic stimulation (IPS) both before and after sleep with any form of epileptiform activity were included. The study group was divided into four subgroups: (1) no photoparoxysmal response (PPR) group, with epileptiform activities other than PPRs; (2) increment group, with PPR duration increased by ≥200% after vs. before sleep; (3) no significant change group, with PPR duration increased between 50% and 200% after vs. before sleep; (4) decrement group, with PPR duration increased ≤50% after vs. before sleep. RESULTS: A total number of 5805 EEG recordings from 459 patients was analyzed. Photosensitivity was present in 98 patients (21.4%). The PPRs after sleep were increased in 70% of the photosensitive patients, did not change in 23%, and were decreased in 7%. The increase in duration of PPRs was statistically significant (P<0.001). In our cohort, photosensitivity would have been detected in 67 patients if IPS was applied only before sleep and in 91 patients if IPS was applied only after awakening (P<0.05). CONCLUSIONS: This study demonstrates that photosensitivity is enhanced after awakening from a short sleep following sleep deprivation. Thus, we recommend performing IPS after awakening to increase sensitivity to detect photoparoxysmal epileptiform discharges.


Assuntos
Córtex Cerebral/fisiopatologia , Transtornos de Fotossensibilidade/fisiopatologia , Privação do Sono/fisiopatologia , Adolescente , Criança , Eletroencefalografia , Epilepsia/complicações , Feminino , Humanos , Masculino , Estimulação Luminosa , Transtornos de Fotossensibilidade/complicações , Estudos Retrospectivos , Privação do Sono/complicações
20.
Noro Psikiyatr Ars ; 53(4): 334-337, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28360808

RESUMO

INTRODUCTION: Stroke prevalence is known to increase with age. Approximately 50% of acute ischemic stroke patients are aged between 70 and 89 years. METHODS: In this study, records of 770 ischemic stroke patients who were 70-89 years old were retrospectively examined (407 septuagenarians and 363 octogenarians). The demographics, comorbid conditions, ischemic stroke type, and stroke outcome for the two age groups were analyzed. RESULTS: Comorbid hypertension, diabetes mellitus, and HbA1c levels of ≥6.5% more frequently occurred in septuagenarians than in octogenarians (80.6% versus 70.8%, p=0.002; 32.2% versus 21.8%, p=0.001; and 35% versus 23.2%, p=0.003, respectively), whereas atrial fibrillation was significantly higher in octogenarians (49.3% versus 41.5%, p=0.03). Hypercholesterolemia, previous stroke history, and antiaggregant and/or anticoagulant use were not significantly different between the two age groups. Based on the Oxfordshire Community Stroke Project classification, the most common stroke subtype in the septuagenarian group was a lacunar infarction and in the octogenarian group, it was a partial anterior circulation infarct. According to the Modified Ranking Score, the number of patients living independently was higher for septuagenarians (42.8% versus 27.8%, p<0.001). CONCLUSION: The present findings indicate that the clinical characteristics of ischemic stroke differed between septuagenarians and octogenarians. Therefore, elderly stroke patients cannot be accepted as a homogeneous group. Because this is a hospital-based study, our findings need to be tested via additional epidemiological studies.

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