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BACKGROUND: During multiple sclerosis (MS) treatment different modes of action such as lateral (interferon beta to glatiramer acetate or glatiramer acetate to interferon beta) or vertical (interferon beta/glatiramer acetate to fingolimod) drug switch can be performed. This study aims to investigate the clinical effectiveness of switching from the first-line injectable disease modifying treatments (iDMTs) to fingolimod (FNG) compared to switching between first-line iDMTs. METHODS: This is a multicenter, observational and retrospective study of patients with relapsing-remitting MS who had lateral and vertical switch. The observation period included three key assessment time points (before the switch, at switch, and after the switch). Data were collected from the MS patients' database by neurologists between January 2018 and June 2019. The longest follow-up period of the patients was determined as 24 months after the switch. RESULTS: In 462 MS patients that were included in the study, both treatments significantly decreased the number of relapses during the postswitch 12 months versus preswitch one year while patients in the FNG group experienced significantly fewer relapses compared to iDMT cohort in the postswitch 12 months period. FNG cohort experienced fewer relapses than in the iDMT cohort within the postswitch 2 year. The mean time to first relapse after the switch was significantly longer in the FNG group. DISCUSSION: The present study revealed superior effectiveness of vertical switch over lateral switch regarding the improvement in relapse outcomes. Patients in the FNG cohort experienced sustainably fewer relapses during the follow-up period after the switch compared the iDMT cohort. Importantly, switching to FNG was more effective in delaying time to first relapse when compared with iDMTs.
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Clorhidrato de Fingolimod , Esclerosis Múltiple , Humanos , Clorhidrato de Fingolimod/uso terapéutico , Estudios Retrospectivos , Acetato de Glatiramer/uso terapéutico , Inmunosupresores/uso terapéutico , Turquía , Esclerosis Múltiple/tratamiento farmacológico , Interferón beta/uso terapéutico , RecurrenciaRESUMEN
INTRODUCTION: The T244I variant of the IL-7RA gene, rs6897932, is one of the first polymorphisms found to be associated with the development of multiple sclerosis (MS). Although several studies provided evidence for the association of MS and this variant, other studies could not confirm this result. These inconsistent results suggest that the role of this polymorphism in the development of disease is associated with ethnicity. METHODS: We investigated rs6897932 polymorphisms in a large cohort of patients with MS and healthy controls in a turkish population. RESULTS: In our study, there were no significant differences in genotype frequencies in the IL-7RA rs6897932 polymorphism and no significant difference between C and T alleles in patients with MS and controls. CONCLUSION: This study is the first to evaluate the risk of the rs6897932 polymorphism in turkish patients with MS.
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BACKGROUND: Various molecules of the coagulation cascade are thought to have varying roles in the pathophysiology of multiple sclerosis (MS). We aimed to find new information about the effects of the coagulation cascade molecules to develop new therapeutic strategies for MS. MATERIALS AND METHODS: Patients with MS were chosen from among patients who were followed up at our hospital. We examined the thrombomodulin (TM) and activated protein C (APC) serum levels in patients with MS and the healthy controls. The patient groups were determined as relapsing-remitting MS (RRMS) or secondary progressive MS (SPMS) according to the McDonald criteria and between ages of 18 and 70. RESULTS: A total of 244 participants, 122 patients with multiple sclerosis and 122 healthy volunteers were included in the study. There was no statistically significant difference in the APC and TM levels between the patients and the healthy controls (p>0.05), between the patients with RRMS and SPMS (p>0.05), and between the first day of acute relapse and 10th day of methylprednisolone therapy in the patients with RRMS (p=0.334; p=0.363). We detected a statistically positive correlation only between the expanded disability status scale (EDSS) scores and TM levels in the patient group (p=0.009). CONCLUSION: Treatment with methylprednisolone decreases EDSS score in RRMS relapse. The increase in EDSS is related to level of TM. The changes in level of TM and APC may be indicator for prognosis of MS or treatment modalities to MS.
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Esclerosis Múltiple Crónica Progresiva/sangre , Esclerosis Múltiple Recurrente-Remitente/sangre , Proteína C/metabolismo , Trombomodulina/sangre , Adulto , Antiinflamatorios/uso terapéutico , Evaluación de la Discapacidad , Femenino , Humanos , Masculino , Metilprednisolona/uso terapéutico , Persona de Mediana Edad , Esclerosis Múltiple Crónica Progresiva/tratamiento farmacológico , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológicoRESUMEN
BACKGROUND: Neuromyelitis optica (NMO) is an immune-mediated, chronic relapsing, inflammatory disease characterized by severe attacks of optic neuritis and myelitis. OBJECTIVE: To determine the demographic, clinical, and laboratory features; antibody status; and treatment modalities of patients with NMO and neuromyelitis optica spectrum disorders in a Turkish cohort from 11 centers. METHODS: A total of 182 patients were included in this study. Data on age at disease onset, sex, type of attacks, clinical presentation, analysis of cerebrospinal fluid, serum antiaquaporin-4 antibody status, annual progression index, and medical and family histories were collected. RESULTS: Mean age was 38.43±12.40 years (range, 13 to 75 y), and mean age at disease onset was 31.29±12.40 years (median, 29 y; range, 10 to 74 y). In NMO group, the rate of NMO immunoglobulin (Ig)G positivity was 62.5%. The annual progression index was significantly higher in the longitudinally extending spinal cord lesion. The mean Expanded Disability Status Scale score was higher in the late than early-onset NMO group. CONCLUSION: Our results revealed a lower rate of NMO IgG positivity, more severe disability in patients with NMO/neuromyelitis optica spectrum disorders presenting with either transverse myelitis or late-onset NMO, and no correlation between disability and NMO IgG status.
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Demografía/estadística & datos numéricos , Neuromielitis Óptica , Adolescente , Adulto , Edad de Inicio , Anciano , Antiinflamatorios/uso terapéutico , Acuaporina 4/inmunología , Estudios de Cohortes , Evaluación de la Discapacidad , Progresión de la Enfermedad , Femenino , Humanos , Inmunoglobulina G/sangre , Imagen por Resonancia Magnética , Masculino , Metilprednisolona/uso terapéutico , Persona de Mediana Edad , Neuromielitis Óptica/diagnóstico , Neuromielitis Óptica/epidemiología , Neuromielitis Óptica/terapia , Turquía/epidemiología , Adulto JovenRESUMEN
Creutzfeldt-Jakob disease (CJD) is a fairly rare prion sickness characterized by rapidly progressive dementia and neuropsychiatric symptoms. The diversity of clinical characteristics of the disease causes difficulties during diagnosis. The first finding of the disease might be psychiatric symptoms. The male patient who was diagnosed with CJD after dementia, ataxia, and myoclonus developed rapidly following psychiatric symptoms, was presented in order to draw attention to the onset with psychiatric symptoms in CJD.
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Síndrome de Creutzfeldt-Jakob/psicología , Anciano de 80 o más Años , Síndrome de Creutzfeldt-Jakob/complicaciones , Síndrome de Creutzfeldt-Jakob/diagnóstico , Demencia/complicaciones , Demencia/diagnóstico , Demencia/psicología , Diagnóstico Diferencial , Humanos , Masculino , Escalas de Valoración PsiquiátricaRESUMEN
Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Headache is a rare component of SWS and when it occurs it usually occurs as a migraine-like headache. We aimed to present a SWS patient with episodic tension type headache and to draw attention in different types of headaches that can be seen in SWS. A 21 year old female patient with the diagnosis of SWS was suffering from severe headaches. At her physical examination a facial nevus -occurred due to choroid angioma- was observed. On her neurological examination a mild asymmetry of upper extremities was visible. She had a 2 year history of frequent non-pulsating headaches. There was no nausea or aura like symptoms accompanying the headache. Headaches were lasting for hours. The pain was bilateral and pressing in quality. SWS are a very rare and challenging disease for both the patients and their families. Usually migraine type headache is seen in SWS but it should not be forgotten that more generalized headaches like tension type may also be seen.
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Síndrome de Sturge-Weber/complicaciones , Cefalea de Tipo Tensional/etiología , Femenino , Humanos , Adulto JovenRESUMEN
INTRODUCTION: It is well recognized that both genetic and environmental factors play an important role in the pathogenesis of multiple sclerosis (MS). Immune pathogenesis of MS focuses on pathogenic CD4+ T lymphocytes. CD4+CD25+ regulatory T cells have suppressive function in this cell group. FOXP3 (forkhead boxP3) transcription factor is a key structure in the development and function of regulatory cells. Functional alterations in FOXP3 gene expression have been observed in various autoimmune diseases. METHODS: We screened a non-synonymous coding single nucleotide polymorphism (exon +2710 C/T) (rs2232369) of human FOXP3 gene in 148 MS patients (118 with Relapsing Remitting MS, 30 with Secondary Progressive MS) and 102 age- and sex-matched healthy controls. The association of polymorphisms with susceptibility, and course of the disease was evaluated. RESULTS: We could not detect any single nucleotide polymorphism in MS patients, however, polymorphic allele was detected in 3% of the control group. Consequently, a genetic association between the FOXP3 gene polymorphism and MS was not revealed. CONCLUSION: The distribution of this polymorphism has not been screened in any other MS populations before. Although we could not succeed to find any association between susceptibility to MS and screened FOXP3 gene polymorphisms, we suggest that this particular polymorphism is not appropriate for these kind of studies in the future.
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BACKGROUND: Multiple Sclerosis (MS) is a neurodegenerative disease. It involves inflammation and demyelination. Since cytokines play an important role in the development of MS, genes encoding cytokines such as the Interleukin (IL)-1 family are candidate genes for MS susceptibility. OBJECTIVE: To determine the relationship between IL-1 gene family and MS in the Turkish population. METHODS: A total of 409 MS patients and 256 healthy controls were included in the study. IL-1A -889 (rs1800587), IL-1 RN variable number tandom repeat (VNTR), IL-1B -511 (rs 16944) and IL-1B +3953 (rs 1143634) polymorphisms were investigated from the genomic DNA, obtained via blood samples. RESULTS: No association was found between IL-1A and IL-1RN polymorphisms and susceptibility to MS. However, we have found significantly decreased frequency of IL-1B -511 genotype (p = 0.004) in MS patients compared to controls. In addition, there was a significant association between IL-1B -511 (1/2) genotype and early onset MS (EOMS) (p = 0.0001). CONCLUSIONS: Individuals with the 2/2 genotype of IL-1B -511 have significantly decreased incidence of MS, suggesting a protective role for this genotype in the Turkish population. Additionally, IL-1B -511 (1/2) genotype was determined as a possible risk factor for EOMS.
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Interleucina-1/genética , Esclerosis Múltiple/epidemiología , Esclerosis Múltiple/genética , Polimorfismo Genético , Adolescente , Adulto , Anciano , Alelos , Citocinas/genética , ADN/genética , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Interleucina-1beta/genética , Masculino , Persona de Mediana Edad , Repeticiones de Minisatélite , Turquía/epidemiología , Adulto JovenRESUMEN
BACKGROUND: The use of drains in the treatment of syringomyelia has a simple and immediate appeal. Syringopleural shunting in syringomyelia has produced good short-term results, but limited information is available on long-term effects. We analyzed the complications and long-term outcomes after syringopleural shunting for syringomyelia. CLINICAL MATERIAL AND METHODS: Fourthy-four patients with large-sized syringomyelia underwent syringopleural shunting because of spinal cord compression between 1992 and 2010 in our clinic. Thirty-two patients had Chiari malformation type I (Group B), and 12 patients were associated with primary parenchymal cavitations (Group A). Their ages ranged from 14 to 71 years. Both craniovertebral decompression and syringopleural shunting were performed on 21 patients, whereas only syringopleural shunting was performed on another 21 patients. RESULTS: The follow-up period ranged from 1 year to 17 years (mean: 9.1 years). There was no operative mortality. Early postoperative MRI revealed that syringes of 43 patients had collapsed. There were 9 (20.5%) minor complications in 9 patients, including temporary neurological deficits (6), respiratory distress (2) and headache (1). Seven (15.9%) serious complications [permanent neurological deficit (1), shunt migration (2), shunt misplacement (1), spinal instability (1), tethering (1), CSF over drainage (1)] were seen in five patients. Four of them were treated with a secondary operation. Three patients (3/9; 33.3%) who were treated by syringopleural shunt alone (Group B2) required craniovertebral decompression, although the shunt was functional. During long-term follow-up, three patients stabilized, five patients (11.3%) developed a worse neurological condition, and two of these patients died 10 and 7 years after surgery. Of all patients, 88.6% showed significant clinical improvement. CONCLUSIONS: Although there were complications and failures, syringopleural shunting produced satisfactory results at long-term follow-up.
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Malformación de Arnold-Chiari/complicaciones , Derivaciones del Líquido Cefalorraquídeo/métodos , Siringomielia/cirugía , Adolescente , Adulto , Anciano , Malformación de Arnold-Chiari/cirugía , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Compresión de la Médula Espinal/etiología , Compresión de la Médula Espinal/cirugía , Resultado del Tratamiento , Adulto JovenRESUMEN
Recently, Iskandar et al described "Chiari Zero malformation" to characterize some kind of syringomyelia that exhibits classic Chiari-type symptoms with little to no herniation, but there is some dilemma about whether it is actually present. We presented a 38-year-old-man with a diagnosis of cervical syringomyelia. In his neurological examination, there was monoparesia at the left leg together with hypoesthesia below thoracal 7. He had initially been treated with syringopleural shunting successfully. Nine months after surgery, his syringomyelia had regrown and he clinically deteriorated. It was accepted as "a Chiari zero malformation". We performed craniovertebral decompression only. Although there was no tonsillar herniation, his syringomyelia was completely resolved and his neurological status was improved six months after the craniovertebral decompression, This case suggested that "Chiari zero malformation" description is remarkable and craniovertebral decompression is a suitable surgical approach for this entity.
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Malformación de Arnold-Chiari/patología , Malformación de Arnold-Chiari/cirugía , Descompresión Quirúrgica/métodos , Imagen por Resonancia Magnética , Procedimientos Neuroquirúrgicos/métodos , Adulto , Derivaciones del Líquido Cefalorraquídeo/métodos , Humanos , MasculinoRESUMEN
The authors report a case with idiopathic hypertrophic cranial pachymeningitis associated with intermediate uveitis. The patient complained of decreased vision in both eyes, especially the right. Ophthalmic examination revealed right optic disc pallor, bilateral vitritis, and cystoid macular edema. Magnetic resonance imaging revealed marked enhancement of a dural lesion. The macular edema responded well to medical treatment. Intermediate uveitis has not yet been reported in the context of idiopathic hypertrophic cranial pachymeningitis.
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The pathogenesis of Parkinson Disease (PD) remains poorly understood; however, inflammation is thought to play an important role in disease progression. Recent reports suggest that IL-1, a major proinflammatory cytokine, might play a role in PD progression. The purpose of this study was to determine the relationship between IL-1 gene family polymorphisms [IL-1 alpha (-889), IL-1Ra (VNTR) and IL-1 beta (-511, +3953)] and PD in the Turkish population. In this study, we examined the genotypes of IL-1 gene family polymorphisms in 365 individuals, of which 199 were healthy control subjects and 166 were PD patients. No significant differences were found in the genotype distribution or in the allele frequencies of IL-1 alpha (-889), IL-1Ra (VNTR) and IL-1 beta (+3953) between PD cases and control subjects. However, distribution of the IL-1 beta -511 2/2 (T/T) genotype was found to be significantly lower in PD patients than in healthy controls (p = 0.018, x2: 8.242, OR: 2.211, 95% CI: 1.261-3.877). In addition, the IL-1 beta -511 allele 1 (C) frequency was significantly elevated in PD patients versus controls (p = 0.048, x2: 3.87, OR: 1.178, 95% CI: 0.999-1.388). These results suggest that IL-1 alpha (-889), IL-1Ra and IL-1 beta (+3953) gene polymorphisms have no association with PD, while allele 1 (C) of IL-1 beta (-511) is associated with PD and may provide a susceptibility factor for this disease in the Turkish population. Furthermore, the 2/2 (T/T) genotype of IL-1 beta (-511) may protect individuals from PD.
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Interleucina-1beta/genética , Enfermedad de Parkinson/genética , Polimorfismo Genético , Secuencia de Bases , Estudios de Casos y Controles , Cartilla de ADN , Femenino , Frecuencia de los Genes , Humanos , Masculino , Repeticiones de Minisatélite , Reacción en Cadena de la Polimerasa , TurquíaRESUMEN
PURPOSE: Detecting retinal vigabatrin toxicity in patients with partial symptomatic or cryptogenic epilepsy can be challenging because of preexisting visual field defects secondary to a structural abnormality in the brain or lack of collaboration. The aim of this study was to measure the retinal nerve fiber layer thickness (RNFLT) with optic coherence tomography (OCT), as well as contrast sensitivity, color vision, and perimetry, in patients with partial symptomatic or cryptogenic epilepsy on vigabatrin, and to determine the efficacy of these tests as markers of vigabatrin-related retinal damage in these subgroups of epileptic patients. METHODS: The study involved 38 patients with either partial symptomatic or cryptogenic epilepsy and 16 healthy individuals comprising the control group. At the time of the study, 14 of the patients were using vigabatrin, 10 were receiving sodium valproate monotherapy, and 14 were on carbamazepine monotherapy. All the participants underwent RNFLT imaging with OCT, contrast sensitivity, color discrimination assessment, and perimetry. RESULTS: The average 360 degrees RNFLT of the vigabatrin group was significantly lower when compared to the other groups. The average RNFLT of all quadrants except the temporal one in the vigabatrin group was also significantly reduced. There was no difference in the mean deviation, contrast sensitivity, and color discrimination between the study groups, but they were all significantly lower than the control group. CONCLUSIONS: RNFLT measurement with OCT can efficiently identify vigabatrin toxicity in patients with partial symptomatic and cryptogenic epilepsy. Perimetry, contrast sensitivity, and color discrimination assessment might be inconclusive in these particular subgroups of epileptic patients.
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Anticonvulsivantes/efectos adversos , Epilepsias Parciales/tratamiento farmacológico , Retina/efectos de los fármacos , Enfermedades de la Retina/inducido químicamente , Vigabatrin/efectos adversos , Adulto , Anticonvulsivantes/uso terapéutico , Estudios Transversales , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Incidencia , Masculino , Estudios Prospectivos , Retina/patología , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/epidemiología , Factores de Riesgo , Tomografía de Coherencia Óptica , Turquía/epidemiología , Vigabatrin/uso terapéuticoRESUMEN
Cytokines and chemokines in cerebrospinal fluid (CSF) can have implications on the pathogenesis of neuro-Behçet's disease (NB). CSF and serum samples from 33 patients with NB, 25 with multiple sclerosis (MS), 20 patients with infectious and/or inflammatory neurological diseases (IN) and 14 with other noninflammatory neurological diseases (NIN) were investigated by ELISA. In the CSF, CXCL10 levels were significantly higher in NB and IN than NIN and MS, whereas CXCL8 was increased in NB compared to NIN. CCL2 levels in MS CSF and sera were lower, whereas CXCL8 in MS sera was higher than the other groups. IL-12 was elevated in CSF of IN compared to NB and NIN and also in the CSF of MS compared to NIN. No difference was detected for IL-10 and IL-17. These results reflect that NB has a mediator pattern in resemblance with non-specific inflammations such as neuro-infections compared to autoimmune disorders such as multiple sclerosis, suggesting that a currently unknown infection might be the trigger of a vasculitic process in the central nervous system (CNS).