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1.
Neurologia (Engl Ed) ; 38(2): 65-74, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35256320

RESUMO

INTRODUCTION: The C1236T, G2677T/A, and C3435T variants of the ABCB1 gene alter the functioning of P-glycoprotein and the transport of endogenous and exogenous substances across the blood-brain barrier, and act as risk factors for some neurodegenerative diseases. This study aimed to determine the association between demyelinating disease and the C1236T, G2677T/A, and C3435T variants of ABCB1 and its haplotypes and combinations of genotypes. METHODS: Polymerase chain reaction with restriction fragment length polymorphism analysis (PCR-RFLP) and Sanger sequencing were used to genotype 199 patients with demyelinating disease and 200 controls, all Mexicans of mixed race; frequencies of alleles, genotypes, haplotypes, and genotype combinations were compared between patients and controls. We conducted a logistic regression analysis and calculated chi-square values and 95% confidence intervals (CI); odds ratios (OR) were calculated to evaluate the association with demyelinating disease. RESULTS: The TTT and CGC haplotypes were most frequent in both patients and controls. The G2677 allele was associated with demyelinating disease (OR: 1.79; 95% CI, 1.12-2.86; P =  .015), as were the genotypes GG2677 (OR: 2.72; 95% CI, 1.11-6.68; P =  .025) and CC3435 (OR: 1.82; 95% CI, 1.15-2.90; P =  .010), the combination GG2677/CC3435 (OR: 2.02; 95% CI, 1.17-3.48; P =  .010), and the CAT haplotype (OR: 0.21; 95% CI, 0.05-0.66; P =  .001). TTTTTT carriers presented the earliest age of onset (23.0 ±â€¯7.7 years, vs 31.6 ±â€¯10.7; P =  .0001). CONCLUSIONS: The GG2677/CC3435 genotype combination is associated with demyelinating disease in this sample, particularly among men, who may present toxic accumulation of P-glycoprotein substrates. In our study, the G2677 allele of ABCB1 may differentially modulate age of onset of demyelinating disease in men and women.


Assuntos
Membro 1 da Subfamília B de Cassetes de Ligação de ATP , Doenças Desmielinizantes , Feminino , Humanos , Idade de Início , Membro 1 da Subfamília B de Cassetes de Ligação de ATP/genética , Doenças Desmielinizantes/epidemiologia , Doenças Desmielinizantes/genética , Genótipo , Fatores de Risco
2.
Rev. ANACEM (Impresa) ; 17(1): 13-21, 2023. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1525884

RESUMO

La presente es una revisión bibliográfica actualizada sobre el manejo de la Esclerosis Múltiple (EM), enfermedad neurológica progresiva de tipo desmielinizante más frecuente a nivel mundial. En Chile, su presentación remitente-recurrente (RRMS) es patología GES, por lo que se vuelve relevante para el médico general y estudiantes del área de la salud reconocer e identificar las terapias disponibles para el control de esta patología. Si bien la EM no es un cuadro frecuente, su sintomatología es alarmante e incapacitante, por lo que, con frecuencia, el primer acercamiento del paciente es a los servicios de urgencia, tornándose necesario contar con nociones básicas sobre el tratamiento y manejo. La presente revisión recopiló artículos publicados entre 2019 y 2023 de distintos motores de búsqueda con énfasis en el tratamiento farmacológico y no farmacológico de esta enfermedad. Además de describir el tratamiento convencional como la inmunomodulación, las terapias biológicas, el soporte con glucocorticoides y los fármacos remielinizantes, se abordan nuevas líneas de investigación prometedoras, como el rol inmunogénico de la microbiota intestinal, la capacidad epigenética de la dieta, estrategias de rehabilitación cognitiva y el potencial uso de cannabinoides para el manejo paliativo del dolor. Se concluye que un tratamiento oportuno con fármacos modificadores de la enfermedad, tanto de primera línea como de segunda, son imprescindibles para el manejo de la EM, sin embargo, la calidad de vida puede verse significativamente acrecentada por la incorporación de estrategias que se encuentran al alcance del médico general y que no requieren de derivación a nivel secundario.


This is an updated bibliographical review on the management of Multiple Sclerosis (MS), the most common progressive neurological disease of demyelinating disorders worldwide. In Chile, its relapsing-remitting presentation (RRMS) is a state-covered illness pathology, so it becomes relevant for the general practitioner and med students to recognize and identify therapies available for the control of this desease. Although MS is not a frequent condition, its symptoms are alarming and disabling, which is why, frequently, the first approach of the patient is to the emergency services, making it necessary to have basic knowledge about treatment and management. The present review compiled articles published between 2019 and 2023 from different search engines with an emphasis on the pharmacological and non-pharmacological treatment of the MS. In addition to describing conventional treatment such as immunomodulation, biological therapies, glucocorticoid support and remyelinating drugs, new promising lines of research are addressed, such as the immunogenic role of the intestinal microbiota, the epigenetic capacity of the diet, strategies on cognition rehabilitation and the potential use of cannabinoids for the palliative management of pain. It is concluded that the classic treatment with disease-modifying drugs, both first-line and second-line, are essential for the management of MS; however, quality of life can be significantly increased by incorporating strategies found at the reach of the general practitioner and do not require referral at a greater complexity center.


Assuntos
Humanos , Esclerose Múltipla/terapia , Vitamina D/uso terapêutico , Interferons/uso terapêutico , Doenças Desmielinizantes , Imunomodulação , Maconha Medicinal/uso terapêutico , Cloridrato de Fingolimode/uso terapêutico , Fumarato de Dimetilo/uso terapêutico , Microbioma Gastrointestinal , Glucocorticoides , Esclerose Múltipla/diagnóstico
3.
Neurologia (Engl Ed) ; 2020 Sep 07.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32912743

RESUMO

INTRODUCTION: The C1236T, G2677T/A, and C3435T variants of the ABCB1 gene alter the functioning of P-glycoprotein and the transport of endogenous and exogenous substances across the blood-brain barrier, and act as risk factors for some neurodegenerative diseases. This study aimed to determine the association between demyelinating disease and the C1236T, G2677T/A, and C3435T variants of ABCB1 and its haplotypes and combinations of genotypes. METHODS: Polymerase chain reaction with restriction fragment length polymorphism analysis (PCR-RFLP) and Sanger sequencing were used to genotype 199 patients with demyelinating disease and 200 controls, all Mexicans of mixed race; frequencies of alleles, genotypes, haplotypes, and genotype combinations were compared between patients and controls. We conducted a logistic regression analysis and calculated chi-square values and 95% confidence intervals (CI); odds ratios (OR) were calculated to evaluate the association with demyelinating disease. RESULTS: The TTT and CGC haplotypes were most frequent in both patients and controls. The G2677 allele was associated with demyelinating disease (OR: 1.79; 95% CI: 1.12-2.86; P=.015), as were the genotypes GG2677 (OR: 2.72; 95% CI: 1.11-6.68; P=.025) and CC3435 (OR: 1.82; 95% CI: 1.15-2.90; P=.010), the combination GG2677/CC3435 (OR: 2.02; 95% CI, 1.17-3.48; P=.010), and the CAT haplotype (OR: 0.21; 95% CI: 0.05-0.66; P=.001). TTTTTT carriers presented the earliest age of onset (23.0±7.7 years, vs. 31.6±10.7; P=.0001). CONCLUSIONS: The GG2677/CC3435 genotype combination is associated with demyelinating disease in this sample, particularly among men, who may present toxic accumulation of P-glycoprotein substrates. In our study, the G2677 allele of ABCB1 may differentially modulate age of onset of demyelinating disease in men and women.

4.
Acta neurol. colomb ; 35(2): 64-73, abr.-jun. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1010940

RESUMO

RESUMEN El síndrome Clínico Aislado (SCA) denota al primer síntoma neurológico sugestivo de esclerosis múltiple (EM), de por lo menos 24 horas de duración; en ausencia de fiebre, procesos infecciosos y encefalopatía. Se caracteriza por su presentación frecuente en adultos jóvenes y afecta al nervio óptico, hemisferios cerebrales, tronco encefálico o médula espinal. La estratificación temprana del SCA es indispensable ya que con herramientas predictoras clínicas, radiológicas y biológicas, se puede establecer el riesgo de conversión a EM. El uso de terapias modificadoras de la enfermedad (TME) en el primer evento desmielinizante, ha demostrado retrasar la conversión de SCA a esclerosis múltiple en un 44 a 50 %. Sin embargo, no todos los pacientes con SCA evolucionarán a EM, por lo que el estudio de diversos marcadores prónosticos permitirá reconocer el escenario ideal donde los pacientes se beneficien del inicio temprano de TME.


SUMMARY Clinically Isolated Syndrome (CIS), denotes the first neurological symptom suggestive of Multiple Sclerosis (MS), at least 24 hours in duration; In the absence of fever, infectious processes and encephalopathy. It is characterized by its frequent presentation in young adults and affects the optic nerve, brainstem or spinal cord. The early stratification of CIS is essential because with clinical, radiological and biological predictors, the risk of conversion to MS can be established. The use of Disease Modifying Therapies (DMT) in CIS has been shown to delay the conversion of CIS to Multiple Sclerosis by 44 to 50 %%. However, not all patients with CIS will evolve to MS, so the study of several prognostic markers will allow to recognize the ideal scenario where patients benefit from the early onset of DMT.


Assuntos
Mobilidade Urbana
5.
Rev. ecuat. neurol ; Rev. ecuat. neurol;26(3): 296-300, sep.-dic. 2017. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1003997

RESUMO

Resumen Las enfermedades desmielinizantes inflamatorias comprenden una serie de desórdenes de origen autoinmune que afectan la mielina a nivel del sistema nervioso central (SNC) y periférico. Pueden ser monofásicas, multifásicas, progresivas, monofocales o multifocales, y su diagnóstico suele ser de exclusión. Se presenta el caso de una paciente de 15 años que debuta con cefalea, ataxia, hemiparesia, oftalmoparesia y alteración de la conciencia. En la resonancia magnética nuclear se observaron lesiones compatibles con enfermedad desmielinizante. Se realizó diagnóstico de encefalomielitis diseminada aguda. La paciente respondió favorablemente al tratamiento con corticoides.


Abstract Inflammatory demyelinating diseases comprise a series of autoimmune disorders affecting myelin at the level of the central nervous system (CNS) and peripheral nervous system. They can be monophasic, multiphasic, progressive, monofocal or multifocal, and their diagnosis is usually of exclusion. We report the case of a 15-year-old female patient with headache, ataxia, hemiparesis, ophthalmoplegia and altered consciousness. Magnetic resonance imaging showed lesions compatible with demyelinating disease. Acute disseminated encephalomyelitis was diagnosed. The patient responded to treatment with corticosteroids.

6.
Rev. colomb. psiquiatr ; 46(1): 44-49, Jan.-Mar. 2017. tab, graf
Artigo em Inglês | LILACS, COLNAL | ID: biblio-900809

RESUMO

ABSTRACT Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40,000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was ini tially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD.


RESUMEN La leucodistofia metacromática (LDM) es una enfermedad desmielinizante rara (prevalencia, 1:40.000), también llamada deficiencia de arilsulfatasa A (ARS-A), que puede presentarse con síntomas neurológicos y psiquiátricos y cuyo diagnóstico puede plantear dificultades para el clínico, dado lo inespecífico de los signos y síntomas. Se presenta el caso de una paciente de 16 arios atendida por psiquiatría por cambios conductuales, psicosis y deterioro general del funcionamiento. Inicialmente diagnosticada como esquizofrenia, se documentaron por resonancia magnética y pruebas de laboratorio en la evolución cambios que llevaron al diagnóstico de leucodistrofia metacromática.


Assuntos
Humanos , Feminino , Adolescente , Transtornos Psicóticos , Doenças Desmielinizantes , Leucodistrofia Metacromática , Psiquiatria , Espectroscopia de Ressonância Magnética , Cerebrosídeo Sulfatase
7.
Rev Colomb Psiquiatr ; 46(1): 44-49, 2017.
Artigo em Espanhol | MEDLINE | ID: mdl-28193373

RESUMO

Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40 000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was initially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD.


Assuntos
Leucodistrofia Metacromática/diagnóstico , Imageamento por Ressonância Magnética/métodos , Esquizofrenia/diagnóstico , Adolescente , Feminino , Humanos , Leucodistrofia Metacromática/diagnóstico por imagem , Leucodistrofia Metacromática/fisiopatologia
8.
Acta neurol. colomb ; 32(3): 190-202, jul.-set. 2016. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-827680

RESUMO

Introducción: La neuromielitis óptica, es un síndrome clínico caracterizado por la asociación de mielitis transversa y neuritis óptica, hoy en día es reconocida como una enfermedad cuya fisiopatología, clínica, hallazgos en imágenes diagnósticas de laboratorio y tratamiento son específicos. Objetivo: describir las características clínicas, métodos diagnósticos y tratamiento de los pacientes con neuromielitis óptica (NMO) en tres centros asistenciales de cuarto nivel de la ciudad de Bogotá. Materiales y métodos: Diseño: se realizó un estudio de tipo serie de casos. Participantes: se incluyeron casos consecutivos de pacientes de cualquier género, entre los 19 y los 48 años, clasificados en dos grupos según los criterios del Consenso Internacional para el Diagnóstico de Neuromielitis óptica 2015, NMOSD con AQP4-IgG positivos, y NMOSD con AQP4-IgG negativos. Los pacientes fueron reclutados en tres centros hospitalarios, desde junio de 2013 a mayo de 2015. Análisis estadístico: la descripción de las variables se realizó por frecuencias absolutas y relativas, los análisis se realizaron en el paquete estadístico STATA 13®. Resultados: participaron 22 pacientes, con una edad mediana de 36 años, la mayoría mujeres, la mediana de inicio de síntomas fue de 31 años (RIC 24-39). La técnica para el diagnóstico más utilizada fue IFI, la clínica más frecuente del evento inicial fue mielitis y de neuritis óptica en las recaídas posteriores, la mitad de los pacientes presentaron dos o menos eventos, ningún paciente cumplió criterios para otra enfermedad sistémica. Se observaron escalas de discapacidad mas altas en el grupo con AQP4 positivos, y mas bajas en los que recibieron corticoide al inicio. Discusión y conclusiones: esta caracterización constituye la primera descripción de esta enfermedad en Colombia, nuestros hallazgos son similares a los obtenidos en otras poblaciones, algunos datos relevantes requieren más estudios.


Introducción: Optic neuromyelitis, a clinical syndrome characterized by the association of transverse myelitis and optic neuritis, is nowadays recognized as a disease whose pathophysiology, clinical features, and diagnostic and laboratory imaging findings are specific. Objective: To describe the clinical characteristics, diagnostic methods and treatment of patients with neuromyelitis Optica (NMO) in three health centers fourth level of the City of Bogota. Materials and method: Design: A case series type was performed. Participants: consecutive cases of patients of either gender were included between 19 and 48 years, divided into two groups according to the International Consensus criteria for the diagnosis of NMO 2015, NMOSD with AQP4-IgG positive, and NMOSD with AQP4- IgG negative. Patients were recruited from three hospitals from June 2013 to May 2015. Statistical analysis: The description of the variables was performed by absolute and relative frequencies, analyzes were performed in STATA statistical package 13®. Results: A total of 22 patients with a median age of 36, mostly women, median onset was 31 years (IQR 24-39). The technique most commonly used for diagnosis was IFI, the most frequent initial clinical event was myelitis and optic neuritis in subsequent relapses, half of the patients had two or fewer events, no patients met criteria for other systemic disease. higher disability scales were observed in the group with positive AQP4, and lower in those receiving corticosteroids at baseline. Discussion and conclusions: This characterization is the first description of this disease in Colombia, our findings are similar to those obtained in other populations, some relevant data require further study.

9.
Arch. venez. pueric. pediatr ; 78(3): 91-95, set. 2015. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-780123

RESUMO

El espectro de enfermedades desmielinizantes constituye un grupo de entidades clínicas e imagenológicas que presentan una base inmunológica autoinmune donde encontramos más frecuentemente en niños la Encefalomielitis Aguda Diseminada (EMAD), seguida de Neuritis Óptica (NO), Mielitis Transversa (MT), Neuromielitis Óptica (NMO), y Esclerosis Múltiple (EM). Objetivo: Describir el perfil clínico y epidemiológico de las enfermedades desmielinizantes en la edad pediátrica. Métodos: Estudio observacional, descriptivo, incluyendo todos los pacientes menores de 18 años, valorados en el servicio de Neurología Pediátrica del Hospital Universitario de Maracaibo, entre enero 2014 a marzo 2015 con diagnòstico confirmado de enfermedad desmielinizante. Resultados: 11 pacientes entre 1 y 14 años presentaron diagnóstico de enfermedades desmielinizantes predominando el género femenino (64%), la mayoría del Municipio Maracaibo del Estado Zulia. La entidad más frecuente fue EMAD (64%); la clínica predominante fue alteración del estado de conciencia tipo somnolencia (55%). Se presentó un pico en el mes de febrero para la presentación con predominio en el grupo etario adolescentes (37%). Cien porciento de los pacientes presentaron imágenes sugestivas de lesión de sustancia blanca. Conclusión: Las enfermedades desmielinizantes son una realidad en pediatría, siendo en este grupo etario la EMAD la entidad más frecuente. Dada la variedad clínica se hace necesario el conocimiento de estas entidades a fin de poder indicar tratamientos oportunos y adecuados.


The spectrum of demyelinating disease is a group of clinical and imaging entities that have an autoimmune immunological basis, among which the most often described in children is Acute Disseminated Encephalomyelitis (ADEM), followed by optic neuritis (NO), transverse myelitis (MT), optical neuromyelitis (NMO) and Multiple Sclerosis (MS). Objective: To describe the clinical and epidemiological profile of demyelinating diseases in children. Methods: Observational descriptive study including all patients less than 18 years of age, who attended the department of Pediatric Neurology, University Hospital of Maracaibo, between January 2014 and March 2015 with the diagnosis of demyelinating disease. Results: 11 patients between 1 and 14 years (64% females) had a diagnosis of demyelinating diseases. The most common condition was EMAD (64%). The predominant symptoms were altered state of consciousness, type drowsiness (55%). A peak in frequency occurred during February for the age group of adolescents (37%). All patients had images suggestive of white matter injury. Conclusion: Demyelinating diseases are a reality in pediatrics, with EMAD as the most frequent entity. Because of the clinical variety of these pathologies, an adequate knowledge of their presentation is necessary in order to prescribe timely and appropriate treatment.

10.
Rev. chil. neurocir ; 33: 72-77, dic. 2009.
Artigo em Espanhol | LILACS | ID: lil-665163

RESUMO

La concepción de que la neuromielitis óptica (NMO) es un trastorno inflamatorio monofásico, que afecta tanto a los nervios ópticos como a la medula espinal ha variado. En los últimos diez años, los resultados de varios estudios clínicos, radiológicos, serológicos y patológicos, han permitido modificar los axiomas de la NMO, una muestra de esto lo constituye su identificación como una entidad diferente de la Esclerosis Múltiple. Serológicamente se puede comprobar la presencia de un marcador tanto sensible como específico (IgG NMO), este anticuerpo se proyecta contra un antígeno, el aquaporina-4, el cual es el canal de agua más abundante del sistema nervioso, abriendo una nueva era en las investigaciones de los desórdenes desmielinizantes del sistema nervioso central. La posibilidad de determinar serológicamente este marcador, en pacientes con neuritis óptica o mielitis longitudinalmente extensa, y su capacidad de predecir las recaídas posteriores apoyan el concepto de espectro de trastornos de NMO. Se requieren nuevas investigaciones, que posibiliten nuevos conceptos patogénicos, además de estrategias terapéuticas eficaces que beneficien a los pacientes con esta patología.


The traditional view of neuromyelitis optica (NMO) is a monophasic inflammatory disorder that affects both the optic nerves and the spinal cord have been changing since last decated. Result from adecuated clinical trials, radiology, serologics and pathology investigations had modified the current nomenclature of demyelinating deseases leading identified NMO as a separate clinical entity from Multiple Sclerosis. The most abundant water channel in CNS aquaporin-4 has been identified as an specific target of IgG NMO specific autoantibody. This autoantibody could play an importan roll in pathogenesis of the Central nervous System Demyelinating Disorders. This features opens a new era to develop new serologic diagnostic and possible new terapeutical strategies. The identification of NMO-IgG in patients with recurrent optic neuritis or longitudinally extensive myelitis and its ability to predict subsequent relapse support the concept of a spectrum of NMO disorders. New clinical trials, and pathophysyiological investigations are required to hopefully lead to more effective targeted therapies for our patients and to improve our understanding about pathogenic mecanism underlaying in demielinization.


Assuntos
Neuromielite Óptica/imunologia , Neuromielite Óptica/terapia , Autoanticorpos , /imunologia , Imunoglobulina G , Mielite , Biomarcadores , Neuroimagem , Neuromielite Óptica/diagnóstico , Neuromielite Óptica/líquido cefalorraquidiano , Neuromielite Óptica/patologia , Neurite Óptica
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