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BACKGROUND: Multiple sclerosis (MS) has a complex pathophysiology which depends on many endogenous and exogenous factors. Vitamin D involvement has been largely studied in MS. The large distribution of the vitamin D receptor (VDR) in different immune cells is suggestive of an immunomodulatory role. The VDR gene polymorphisms have been proposed as potential risk factors for MS development or evolution with non-conclusive results. METHODS AND RESULTS: We conducted a cross-sectional study including patients ≥ 18 years, with a diagnosis of relapsing remitting MS according to the McDonald Criteria and having a minimum follow-up period of one year after starting a disease modifying therapy. Two study groups were compared based on the Multiple Sclerosis Severity Scale or MSSS: "a slow progressor" group for an MSSS ≤ 5, and a "fast progressor" group for an MSSS > 5. The rs1544410 VDR gene polymorphism was studied for all patients. Eighty patients were included. The fast progressor groups had a higher EDSS at onset, a higher total number of relapses, more frequent and shorter time to secondary progression. The progression profile was not statistically different between genotypes and alleles of the VDR gene polymorphism rs1544410. The CC genotype and wild-type allele exhibited a more aggressive disease phenotype with a higher number of relapses the first year, shorter time to secondary progression and cerebral atrophy on assessment. CONCLUSIONS: Our results suggest potential genotype-phenotype correlations for the rs1544410 VDR gene polymorphism in the disease course of MS. Future research on a larger scale is needed to confirm these findings.
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Predisposição Genética para Doença , Esclerose Múltipla , Polimorfismo Genético , Receptores de Calcitriol , Humanos , Estudos Transversais , Estudos de Associação Genética , Genótipo , Esclerose Múltipla/genética , Polimorfismo Genético/genética , Receptores de Calcitriol/genética , Recidiva , AdultoRESUMO
BACKGROUND: The importance of school teachers' knowledge of and attitudes toward epilepsy and its contribution in improving the links between the Education and Health fields, is well recognized and appreciated. In order to clarify the amount of misconceptions about epilepsy among Tunisian teachers, we conducted a web-based survey. The main objectives of our study were, first, to determine the knowledge about and attitudes toward epilepsy, and second, to specify factors associated with a better understanding of this disease. METHODS: Data were collected using a web-based survey "Google Forms". RESULTS: The study showed a positive correlation between the level of teachers' knowledge of epilepsy and their attitudes toward a person with epilepsy. Despite the knowledge gaps revealed in Tunisian teachers, the overall attitude was at large positive. Familiarity with epilepsy, whether through family or work environment, made a tremendous contribution in redressing misconceptions about epilepsy in our study. CONCLUSION: More educational interventions and programs are needed to increase teachers' familiarity with epilepsy and, consequently, increase their awareness and knowledge.
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Epilepsia , Docentes , Epilepsia/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Professores Escolares , Inquéritos e Questionários , Tunísia/epidemiologiaRESUMO
OBJECTIVE: The aim of our study was to analyze electrophysiological findings in patient with Attention Deficit Hyperactivity Disorder (ADHD) by electroencephalography (EEG) recording, estimate the prevalence of epilepsy in ADHD population and assess its clinical characteristics. METHODS: We conducted a retrospective and analytic study that concerned children with ADHD, followed for at least two-years in the Tunisian National Center for School and University Medicine (NCSUM). All patients recruited underwent at the diagnosis of ADHD, neurological examination and EEG recording in the department of Neurology of Charles Nicolle Hospital. Medical data including family history, ictal semiology and ADHD features were assessed. RESULTS: Thirty patients were enrolled in our study. Mean age was 12.27â¯years with a sex ratio of 3.28. Mean age at diagnosis of ADHD was 6.6â¯years. Attention Deficit Hyperactivity Disordercombined subtype was seen in 18/30 patients, Hyperactive/ Impulsive subtype in 7/30 patients and Inattentive subtype in 5/30 patients. Epilepsy-disease was reported in 20% (Seizures preceded the diagnosis of ADHD in 3/6 cases and appeared after an average of 3.67â¯years in 3/6 cases). Mean age of seizure onset was 7â¯years. Seizure-types were generalized (motor 4/6 cases, absence-type (1/6 case)) and focal (1/6 case). Electroencephalography revealed Epileptiform discharges in 30% with frontal and left dominance. Interictal discharges were significantly associated with younger age of onset (p: 0.02), inattentive subtype (p: 0.04) and intellectual disability (p: 0.04). These discharges was not associated with epilepsy. CONCLUSION: Our results have shown that epileptiform discharges could be used as risk factor for seizures and cognitive impairment which may influence outcome in ADHD population.
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Transtorno do Deficit de Atenção com Hiperatividade , Epilepsia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Humanos , Estudos Retrospectivos , ConvulsõesRESUMO
INTRODUCTION: Organic solvents (OS) are substances with well-known nervous system tropism. Long-term exposure can cause several neurological and neuropsychic manifestations (mainly toxic encephalopathy). A potential causal relation between epileptic seizures and exposure to OS remains controversial. METHODS: We report seven cases of patients with no neurological history who had been professionally exposed to OS and who had at least one epileptic seizure after exposure. Selection of these cases was based on medical records of patients who were referred to the occupational health department of Charles Nicolle Hospital of Tunis during the period from January 1, 2010 to December 31, 2014. RESULTS: Cases studies concerned five men and two women aged between 29 and 46. Professional seniority ranged from 2 to 31 years. In all cases, epileptic seizures occurred after exposure to a mixture of solvents. It was concluded, according to workplace inspections, that there was an important daily and direct OS exposure. Working conditions were considered as defective. Six cases had generalized seizures, one patient presented with status epilepticus. Illness onset occurred between one and nine years after the beginning of exposure to OS. CONCLUSION: These cases suggest a possible relationship between OS exposure and onset of epilepsy.
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Epilepsia , Exposição Ocupacional , Solventes , Adulto , Eletroencefalografia , Epilepsia/induzido quimicamente , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Convulsões , Solventes/efeitos adversosRESUMO
Aim: Guillain-Barré syndrome (GBS) occurrence is rare during inflammatory bowel disease (IBD) and SARS-CoV-2 infection. Its association with thrombotic vascular events, which are common during these two entities, is extremely rare. Case report: We report an exceptional association of GBS and cerebral venous thrombosis in a 28-year-old woman with active ulcerative colitis and no previous history of SARS-CoV-2 vaccination. Mildly symptomatic SARS-CoV-2 infection was diagnosed during etiological investigations of cerebral venous thrombosis. GBS symptoms began 10 days later with clinical and electrical abnormalities consistent with axonal GBS. Other GBS causes were excluded. Favorable outcomes were noted after intravenous immunoglobulin perfusion with full recovery 12 months later. Conclusion: Greater attention should be focused on IBD patients with SARS-CoV-2 infection regardless of its severity.
Guillain Barré Syndrome (GBS) is a rare disorder in which the immune system attacks one's own nerves. This is responsible for progressive muscle weakness and in severe cases paralysis until death. The association of vascular issues with GBS is rare, occurring in specific situations such as inflammatory bowel diseases or SARS-CoV-2 infections. Herein, we report an exceptional association of cerebral thrombosis and GBS, in a young female patient with ulcerative colitis and a mildly symptomatic SARS-CoV-2 infection, that was responsible for a gait disorder. Significant improvement was noted following immunoglobulin infusion and physical rehabilitation, with full recovery 12 months after treatment. Greater attention should be directed toward patients with SARS-CoV-2 infection regardless of its severity.
Rare but concerning: young ulcerative colitis patient developed Guillain Barré Syndrome & venous thrombosis post mild SARS-CoV-2 infection. Even benign COVID-19 cases can be deadly in some. #COVID19 #HealthComplications #IBD #LifeThreatening.
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OBJECTIVE: to evaluate associations between neurocognitive impairment and electroencephalography (EEG) data in Multiple Sclerosis (MS). METHODS: patients aged between 18 and 65 years, diagnosed with MS accordingly to the McDonald 2017 criteria and who were in remission for at least one month were included. Cognitive functions were evaluated by validated neuropsychological tests for Tunisian population. Electroencephalography data of each patient were analysed, Grand Total EEG (GTE) score was calculated and we evaluated their statistical links with cognitive impairment. RESULTS: Thirty five patients were included. Slower background activity was associated with presence of: reduced information processing speed (IPS) (p = 0,03), verbal memory impairment (p = 0,04) and executive dysfunction (p = 0,016). The score 3 of GTE (reactivity of background activity) was associated with reduced IPS (p = 0,007) and executive dysfunction (p = 0,014). We found a positive correlation between background activity and Tunisian Verbal Test (TVLT) (ρ =0,46 ; p = 0,005) and Symbol Digit Modalities Test (SDMT) (ρ =0,35 ; p = 0,03). Sensitivity of GTE score was 68,4% for executive dysfunction (cut-off=2,5) and 66,7% for reduced IPS (cut-off=2,5). CONCLUSIONS: Our results have shown utility of EEG in detecting cortical involvement and its correlation with cognitive impairment in MS patients. SIGNIFICANCE: EEG could be a tool for monitoring cortical involvement during MS and predict cognitive impairment.
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Córtex Cerebral , Disfunção Cognitiva , Eletroencefalografia , Esclerose Múltipla , Monitorização Neurofisiológica , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/etiologia , Esclerose Múltipla/complicações , Esclerose Múltipla/fisiopatologia , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Masculino , Feminino , Testes Neuropsicológicos , Córtex Cerebral/fisiopatologia , Monitorização Neurofisiológica/métodosRESUMO
INTRODUCTION: Protein S deficiency and coronavirus disease 2019 (COVID-19) are rare etiologies of ischemic stroke. We describe a case of an ischemic stroke revealing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in a patient with a history of protein S deficiency and cerebral imaging suggestive of vasculitis. CASE REPORT: A 52-year-old woman, with history of protein S deficiency, was admitted for right hemiparesis and aphasia that happened 6 hours before her consultation. Her National Institutes of Health Stroke Scale (NIHSS) was 11. She had hypoxia (SpO2 93%). COVID-19 polymerase chain reaction was positive. Cerebral computed tomography scan showed an ischemic stroke in the territory of the superficial left middle cerebral artery. The recommended time period for thrombolysis was exceeded and we did not dispose of sufficient resources to deliver thrombectomy. She was treated with aspirin, statins, antibiotic therapy, and oxygen. Considering the high risk of thromboembolic complications and the history of protein S deficiency, anticoagulation treatment with heparin followed by acenocoumarol was started. Evolution was marked by the appearance of 24 hours regressive, acute symptoms of confusion. Brain magnetic resonance imaging showed new ischemic strokes in both anterior cerebral arteries and on magnetic resonance angiography narrowing of the left internal carotid artery and both anterior cerebral arteries suggestive of vasculitis was seen. We maintained anticoagulation and prescribed methylprednisolone 500 mg daily for 3 days. Evolution was marked by improvement of clinical deficit and respiratory status. CONCLUSIONS: SARS-CoV-2 infection potentializes the prothrombotic effect and vascular inflammation by accentuating protein S deficit. The place of steroids seems justifiable in the presence of symptoms of vasculitis in brain imaging.
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Isquemia Encefálica , COVID-19 , Deficiência de Proteína S , Acidente Vascular Cerebral , Feminino , Humanos , Pessoa de Meia-Idade , SARS-CoV-2 , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
BACKGROUND: Depression is a major disorder that can be ttriggering, exacerbating, or co-occurring with dementia symptoms. Its assessment is paramount to achieve diagnostic, prognostic, and therapeutic decisions. The Cornell Scale for Depression in Dementia (CSDD) is purposely designed to address clinically this issue. OBJECTIVE: To examine the reliability and validity of an Arabic version of the CSDD (A-CSDD) in the Tunisian population. METHODS: Fifty-seven participants took part in this study: 20 as a control group (NC), 18 as dementia patients with depression (DD), and 19 as depressed patients without dementia (DND); all patients met the DSM IV criteria for depression and/or dementia. A translated, back-translated and adapted Arabic version of the CSDD was administered in parallel with the Geriatric Depression Scale (GDS), the non-cognitive part of the Alzheimer's disease Assessment Scale, and the Mini-Mental State Examination. RESULTS: The A-CSDD had good internal consistency (Cronbach's alphaâ=â0.85) and high test-retest reliability (Rhoâ=â0.897, pâ<â0.001). The A-CSDD had excellent discriminatory power to diagnose depression in dementia patients (AUCâ=â0.90, pâ<â0.001) and good concurrent validity with the GDS (Rhoâ=â0.70, pâ<â0.001). A principal component analysis with varimax rotation, performed on the DD group, led to a configuration of five factors explaining 75% of the variance. CONCLUSIONS: The results showed that this Arabic-Tunisian version of the A-CSDD is reliable and valid for diagnosing depression in an elderly Tunisian population with dementia and can be used in clinical and research settings.
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Árabes/psicologia , Demência/psicologia , Depressão/diagnóstico , Escalas de Graduação Psiquiátrica , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Demência/complicações , Depressão/etiologia , Depressão/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
This is a retrospective study about 49 cases of xeroderma pigmentosum (XP). The goal was to determine the clinical features of XP in Tunisia. Our study revealed the predominance of a moderate form. Malignant skin tumors showed early. Squamous cell carcinoma (SCC) remainsed the most frequent skin malignancy in all clinical forms. Neurological abnormalities were more frequent in the moderate form. Mental retardation and peripheral neuropathy were the most common signs.
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Xeroderma Pigmentoso/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Oftalmopatias/etiologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/etiologia , Estudos Retrospectivos , Dermatopatias/etiologiaRESUMO
School difficulties and educational inadequacy usually correlate with the child's epilepsy. The target of our study is to discover the most precocious possible the epilepsy and to prevent educational failure in the population of children from 6 to 15 years old. We have carried out a retrospective study on 162 children of an educational age. This population was made up of 100 epileptic children followed over a period of 3 years (1995-1997) and a witness group made up of 62 children selected from brothers and sisters of the study group, with the same sex in default of the opposed sex who are educated. We have noted that at the same age between children from the group of study and children from the witness group. The class of study was significantly inferior in the group of study: the educational average class is 4th against 5th in the witness group P = 0.11. The difference was about one year. The difference of educational results was significant. For the last educational year, the educational mark was 8.99/20 in the group of study against 12/20 in the witness one. P < 10-5. For the last educational semester, the educational mark was 9.5/20 in the group of study against 11.9/20 in the witness group. (P = 3 x 10(-4)).
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Epilepsia/complicações , Deficiências da Aprendizagem/etiologia , Adolescente , Estudos de Casos e Controles , Criança , Escolaridade , Epilepsia/psicologia , Feminino , Humanos , Deficiências da Aprendizagem/psicologia , Masculino , IrmãosRESUMO
INTRODUCTION: Mesiotemporal epilepsy (MTLE) is a clinical syndrome characterised by the association of a history of febrile seizures, a homogenous clinical presentation of seizures, temporal interictal and ictal EEG recordings and an underlying pathology that is mesial sclerosis. MTLE is the most common type of medically intractable partial epilepsy with a drug-resistance in 90% of cases. OBJECT: The aim of this study is to describe the clinical, EEG and MRI findings of 9 patients with MTLE attending the outpatient clinic of Charles Nicolle Hospital. RESULTS: The median age of our study population was 30 years. A history of febrile seizures was found in 5 patients. Hippocampal atrophy was found in all the cases right in 4 cases and left in 5 cases. Drug-resistance was observed in 7 patients. No patient underwent surgery. CONCLUSION: It is important in front of medically intractable partial epilepsy to evoke MTLE, to confirm the diagnosis with neuro-imaging and to propose an interdisciplinary therapeutic approach including neurologists, epileptologists and neurosurgeons.
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Anticonvulsivantes/uso terapêutico , Epilepsia do Lobo Temporal/tratamento farmacológico , Epilepsia do Lobo Temporal/patologia , Adulto , Resistência a Medicamentos , Feminino , Hipocampo/patologia , Humanos , Masculino , Prognóstico , Esclerose , Convulsões Febris , SíndromeRESUMO
Behcet's disease is a chronic relapsing multisystem disorder of unknown etiology. Neurological complications are frequent, occurring in 10 to 49% of cases. We report 4 cases with Behcet's disease (3 females and 1 male) who had symptomatic intracranial hypertension due to cerebral venous sinus thrombosis within a mean delay of 2 years. The mean age at onset was 31 years and the mean age on referral was 39.5 years. The predominant manifestation in our series were headache, papilledema, seizures and pyramidal syndromes. CT Scan showed non specific abnormalities in all of them and the sinus venous thrombosis was confirmed by MRI in 3 cases. The authors emphasize on the importance of MRI with angio MRI for the diagnosis, the outcome and the evaluation of the cerebral venous thrombosis after treatment.