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1.
Arq. neuropsiquiatr ; 79(8): 666-675, Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1339239

ABSTRACT

ABSTRACT Background: Multiple sclerosis exhibits specific neuropathological phenomena driving to both global and regional brain atrophy. At the clinical level, the disease is related to functional decline in cognitive domains as the working memory, processing speed, and verbal fluency. However, the compromise of social-cognitive abilities has concentrated some interest in recent years despite the available evidence suggesting the risk of disorganization in social life. Recent studies have used the MiniSEA test to assess the compromise of social cognition and have found relevant relationships with memory and executive functions, as well as with the level of global and regional brain atrophy. Objective: The present article aimed to identify structural changes related to socio-cognitive performance in a sample of patients with relapsing-remitting multiple sclerosis. Methods: 68 relapsing-remitting multiple sclerosis Chilean patients and 50 healthy control subjects underwent MRI scans and neuropsychological evaluation including social-cognition tasks. Total brain, white matter, and gray matter volumes were estimated. Also, voxel-based morphometry was applied to evaluate regional structural changes. Results: Patients exhibited lower scores in all neuropsychological tests. Social cognition exhibited a significant decrease in this group mostly related to the declining social perception. Normalized brain volume and white matter volume were significantly decreased when compared to healthy subjects. The regional brain atrophy analysis showed that changes in the insular cortex and medial frontal cortices are significantly related to the variability of social-cognitive performance among patients. Conclusions: In the present study, social cognition was only correlated with the deterioration of verbal fluency, despite the fact that previous studies have reported its link with memory and executive functions. The identification of specific structural correlates supports the comprehension of this phenomenon as an independent source of cognitive disability in these patients.


RESUMEN Antecedentes: La esclerosis múltiple presenta fenómenos neuropatológicos específicos que conducen a la atrofia cerebral global y regional. A nivel clínico, la enfermedad está relacionada con el deterioro funcional de los dominios cognitivos como la memoria de trabajo, la velocidad de procesamiento y la fluidez verbal. Sin embargo, el compromiso de las habilidades socio-cognitivas ha concentrado cierto interés en los últimos años debido a la evidencia disponible que sugiere el riesgo de desorganización en la vida social. Estudios recientes han utilizado la prueba MiniSEA para evaluar el compromiso de la cognición social y han encontrado relaciones relevantes con la memoria y funciones ejecutiva, así como con el nivel de atrofia cerebral global y regional. Objetivo: El presente artículo tiene como objetivo identificar cambios estructurales relacionados con el rendimiento sociocognitivo en una muestra de pacientes con esclerosis múltiple recurrente-remitente. Métodos: 68 pacientes Chilenos con esclerosis múltiple recurrente-remitente y 50 sujetos de control sanos se sometieron a resonancias magnéticas y evaluación neuropsicológica, incluidas las tareas de cognición social. Se estimaron los volúmenes cerebrales totales, de materia blanca y materia gris. Además, se aplicó la morfometría basada en vóxel para evaluar los cambios estructurales regionales. Resultados: Los pacientes muestran puntuaciones más bajas en todas las pruebas neuropsicológicas. La cognición social exhibe una disminución significativa en este grupo principalmente relacionada con la disminución de la percepción social. El volumen normalizado del cerebro y el volumen de la materia blanca disminuyeron significativamente en comparación con los sujetos sanos. El análisis regional de atrofia cerebral mostró que los cambios en la corteza insular y la corteza frontal medial están significativamente relacionados con la variabilidad del rendimiento sociocognitivo entre los pacientes. Conclusiones: En el presente estudio, la cognición social sólo se correlacionó con el deterioro de la fluencia verbal, a pesar de que estudios previos han reportado su vinculación con la memoria y funciones ejecutivas. La identificación de correlatos estructurales específicos apoya la comprensión de este fenómeno como una fuente independiente de discapacidad cognitiva en estos pacientes.


Subject(s)
Humans , Multiple Sclerosis, Relapsing-Remitting , Multiple Sclerosis/complications , Multiple Sclerosis/pathology , Multiple Sclerosis/diagnostic imaging , Atrophy/pathology , Brain/pathology , Brain/diagnostic imaging , Magnetic Resonance Imaging , Cognition , Gray Matter/diagnostic imaging , Social Cognition , Neuropsychological Tests
2.
Rev. argent. radiol ; 85(1): 11-20, ene. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1155708

ABSTRACT

Resumen La presencia de lesiones quísticas de etiología oncológica en el encéfalo es cada vez más frecuente. El rol del especialista en imágenes es describir sus características, morfología y comportamiento con el contraste endovenoso, para llegar a realizar un diagnóstico presuntivo y enumerar sus diagnósticos diferenciales, y así orientar al médico tratante. Haremos una revisión de las lesiones quísticas de etiología oncológica de presentación frecuente en el encéfalo.


Abstract The presence of an oncologic cystic formation in the brain is frequent. The imaging specialist's role is to describe its features, morphology, and image enhancement characteristics with endovenous contrast, to make a presumptive diagnosis, and enumerated differential diagnoses and thus orientate the practitioner. We will analyze the most common expansive cystic formations.


Subject(s)
Brain Neoplasms/diagnostic imaging , Cysts/diagnostic imaging , Brain/pathology , Brain/diagnostic imaging , Magnetic Resonance Spectroscopy , Tomography, X-Ray Computed , Neurocytoma , Hemangioblastoma , Ependymoma
5.
Arq. neuropsiquiatr ; 77(7): 485-492, July 2019. tab, graf
Article in English | LILACS | ID: biblio-1011371

ABSTRACT

ABSTRACT Because of the need for a standardized and accurate method for detecting multiple sclerosis (MS) inflammatory activity, different magnetic resonance (MR) acquisitions should be compared in order to choose the most sensitive sequence for clinical routine. Objective To compare the sensitivity of a T1-weighted image to a single dose of gadolinium (Gd) administration both with and without magnetization transfer to detect contrast enhancement in active demyelinating focal lesions. Methods A sample of relapsing-remitting MS patients were prospectively examined separately by two neuroradiologists using a 1.5 Tesla scanner. The outcome parameters were focused on Gd-enhancement detection attributed to acute demyelination. All MR examinations with at least one Gd-enhancing lesion were considered positive (MR+) and each lesion was analyzed according to its size and contrast ratio. Results Thirty-six MR examinations were analyzed with a high inter-observer agreement for MR+ detection (k coefficient > 0.8), which was excellent for the number of Gd-enhancing lesions (0.91 T1 spin-echo (SE), 0.88 T1 magnetization transfer contrast (MTC) sequence and 0.99 magnetization-prepared rapid acquisition with gradient-echo (MPRAGE). Significantly more MR+ were reported on the T1 MTC scans, followed by the T1 SE, and MPRAGE scans. Confidently, the T1 MTC sequence demonstrated higher accuracy in the detection of Gd-enhancing lesions, followed by the T1 SE and MPRAGE sequences. Further comparisons showed that there was a statistically significant increase in the contrast ratio and area of Gd-enhancement on the T1 MTC images when compared with both the SE and MPRAGE images. Conclusion Single-dose Gd T1 MTC sequence was confirmed to be the most sensitive acquisition for predicting inflammatory active lesions using a 1.5 T magnet in this sample of MS patients.


RESUMO No que se refere à necessidade de um método preciso e padronizado para a detecção de atividade inflamatória em esclerose múltipla (EM), diferentes aquisições de RM devem ser comparadas com objetivo de escolher a sequência mais sensível para a rotina clínica. Objetivo Comparar a sensibilidade das sequências ponderadas em T1 após a administração endovenosa de uma única dose de gadolínio, com e sem a adição da transferência de magnetização, para detectar a impregnação das lesões desmielinizantes focais agudas. Métodos Uma amostra de pacientes com EM-RR foi prospectivamente avaliada separadamente por dois neurorradiologistas em um equipamento de RM de 1,5 Tesla. Os parâmetros de desfecho foram direcionados para a avaliação da detecção de impregnação pelo Gd atribuída à desmielinização aguda. Todos os exames de RM que demonstraram ao menos uma lesão com impregnação pelo Gd foram considerados positivos (RM+) e cada lesão foi analisada de acordo com suas dimensões e contraste. Resultados Trinta e seis exames de RM foram analisados. Os avaliadores demonstraram elevada concordância para a detecção de RM+ (coeficiente> 0,8), sendo excelente quanto ao número de lesões com impregnação pelo Gd (0,91 SE, 0,88 T1 MTC e 0,99 MPRAGE). A sequência T1 MTC apresentou número significativamente maior de RM+, seguida pelas sequências T1 SE e MPRAGE. De forma análoga, a sequência T1 MTC demonstrou maior acurácia na detecção de lesões com impregnação pelo Gd, seguida pelas sequências T1 SE e MPRAGE. As demais comparações demonstraram aumento estatisticamente significativo na relação de contraste e na área de impregnação pelo Gd nas imagens T1 MTC quando comparadas às imagens SE e MPRAGE. Conclusão A sequência T1 MTC com uma única dose de Gd confirmou ser a sequência mais sensível em demonstrar lesões inflamatórias agudas em equipamento de 1,5 T nessa coorte de pacientes com EM.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Young Adult , Brain/pathology , Magnetic Resonance Imaging/methods , Demyelinating Diseases/diagnostic imaging , Contrast Media/administration & dosage , Multiple Sclerosis, Relapsing-Remitting/diagnostic imaging , Gadolinium/administration & dosage , Prospective Studies , Sensitivity and Specificity , Demyelinating Diseases/etiology , Multiple Sclerosis, Relapsing-Remitting/complications , Multiple Sclerosis
6.
Medicina (B.Aires) ; 79(2): 111-114, abr. 2019. ilus
Article in Spanish | LILACS | ID: biblio-1002616

ABSTRACT

El objetivo de este estudio fue combinar dos métodos automatizados de análisis estructural de imágenes de resonancia magnética para identificar cambios estructurales en pacientes nacidos en Argentina con epilepsia generalizada idiopática (EGI) en comparación con un grupo control de adultos sanos. Fueron incluidos 28 pacientes con EGI y 26 controles sin diferencias demográficas significativas. El análisis de las estructuras cerebrales se realizó con dos métodos automatizados de análisis de imágenes de resonancia magnética: la morfometría basada en vóxel y con la herramienta de segmentación y registro integrada FSL (FSL-FIRST). FSL mostró una disminución del volumen en ambos tálamos en EGI en comparación con el grupo control (tálamo izquierdo: 8092 mm³ grupo control vs. 7424 mm³ EGI, p = 0.0015; tálamo derecho: 7951 mm³ grupo control vs. 7247 mm³ EGI, p = 0.0016). Se observó una reducción en el volumen de ambos núcleos caudados (izquierdo: 3612 mm³ grupo control vs. 3376 mm³ EGI, p = 0.01; derecho 3683 mm³ grupo control vs. 3459 mm³ EGI, p = 0.04). La morfometría basada en vóxel mostró una disminución del volumen en ambos núcleos caudados en EGI en comparación con el grupo control. Las otras estructuras cerebrales analizadas no mostraron diferencias significativas entre los grupos. Este estudio muestra la reducción en el volumen en las estructuras subcortical, tálamos y núcleos caudados en pacientes con EGI comparado con un grupo control.


The purpose of this study was to combine two automated methods of magnetic resonance imaging (MRI) structural analysis in order to identify structural changes in patients born in Argentina with idiopathic generalized epilepsy (IGE) compared to a healthy adult control group. Twenty-eight patients with IGE and 26 controls with no significant demographic differences were included. The analysis of the brain structures was conducted with two automated methods of magnetic resonance image analysis: voxel-based morphometry and FSL-integrated registration and segmentation toolbox (FSL-FIRST). FSL showed volume decrease in both thalamus in patients with IGE compared to the control group (left: 8092 mm³ control group vs. 7424 mm³ IGE, p = 0.0015; right: 7951 mm³ control group vs. 7247 mm³ IGE, p = 0.0016). A reduction in the volume of both caudate nuclei was also seen (left: 3612 mm³ control group vs. 3376 mm³ IGE, p = 0.01; right: 3683 mm³ control group vs. 3459 mm³ IGE, p = 0.04). Voxel-based-morphometry showed a volume decrease in both caudate nuclei in patients with IGE compared to the control group. The other cerebral structures analyzed did not show significant differences between the groups. In conclusion, this study shows the reduction in volume in the subcortical, thalamic, and caudate nuclei structures in patients with IGE in comparison to control group. This study conducted in our country delves into the analysis of brain structural changes in patients with EGI compared to healthy subjects.


Subject(s)
Humans , Male , Female , Adult , Brain/pathology , Brain/diagnostic imaging , Magnetic Resonance Imaging/methods , Epilepsy, Generalized/pathology , Epilepsy, Generalized/diagnostic imaging , Organ Size , Argentina , Reference Values , Thalamus/pathology , Thalamus/diagnostic imaging , Case-Control Studies , Reproducibility of Results , Retrospective Studies , Analysis of Variance
7.
Arq. neuropsiquiatr ; 77(3): 184-193, Mar. 2019. tab, graf
Article in English | LILACS | ID: biblio-1001346

ABSTRACT

ABSTRACT Cerebellar ataxia is a common finding in neurological practice and has a wide variety of causes, ranging from the chronic and slowly-progressive cerebellar degenerations to the acute cerebellar lesions due to infarction, edema and hemorrhage, configuring a true neurological emergency. Acute cerebellar ataxia is a syndrome that occurs in less than 72 hours, in previously healthy subjects. Acute ataxia usually results in hospitalization and extensive laboratory investigation. Clinicians are often faced with decisions on the extent and timing of the initial screening tests, particularly to detect treatable causes. The main group of diseases that may cause acute ataxias discussed in this article are: stroke, infectious, toxic, immune-mediated, paraneoplastic, vitamin deficiency, structural lesions and metabolic diseases. This review focuses on the etiologic and diagnostic considerations for acute ataxia.


RESUMO A ataxia cerebelar é um achado comum na prática neurológica e tem uma grande variedade de causas, desde a degeneração cerebelar crônica e lentamente progressiva à lesão cerebelar aguda devido a infarto, edema ou hemorragia, configurando uma verdadeira emergência neurológica. Ataxia cerebelar aguda é uma síndrome que ocorre em menos de 72 horas em indivíduos previamente saudáveis. A ataxia aguda geralmente resulta em hospitalização e extensa investigação laboratorial. Os clínicos são frequentemente confrontados com a decisão sobre a extensão e o momento dos testes de rastreio iniciais, em particular para detectar as causas tratáveis. O principal grupo de doenças que podem causar ataxias agudas discutidas neste artigo são: acidente vascular cerebral, infecciosas, tóxicas, imunomediadas, paraneoplásicas, deficiência de vitaminas, lesões estruturais e doenças metabólicas. Esta revisão enfoca a etiologia e considerações diagnósticas para a ataxia aguda.


Subject(s)
Humans , Cerebellar Ataxia/diagnosis , Cerebellar Ataxia/etiology , Brain/pathology , Brain/diagnostic imaging , Magnetic Resonance Imaging , Cerebellar Ataxia/pathology , Acute Disease , Diagnosis, Differential
8.
Arq. neuropsiquiatr ; 76(11): 756-759, Nov. 2018. tab, graf
Article in English | LILACS | ID: biblio-973939

ABSTRACT

ABSTRACT The study reviewed the histology of cases of grade I meningiomas with spontaneous necrosis, grade I without necrosis and grade II meningiomas, to evaluate the histological and immunohistochemical factors of the patients' prognosis, while correlating the clinicopathological features with the clinical follow-up of the patients. A review of 47 cases from the Department of Pathology of UNIFESP was performed and the samples were submitted to immunohistochemical examination with the p53 protein, Ki-67 cell proliferation factor and progesterone receptor markers. A greater expression was found in the progression of several degrees of aggressiveness for p53 and Ki-67, and a higher frequency of progesterone receptors in the lower degrees. The group of grade I meningiomas with spontaneous necrosis showed histological and immunohistochemical indexes that approximate those of the grade II meningioma. This suggests a worse prognosis for grade I meningiomas with necrosis.


RESUMO O objetivo do estudo foi realizar a revisão histológica de casos de meningiomas grau I com necrose espontânea, grau I sem necrose e grau II para avaliar os fatores histológicos e imunohistoquímicos de prognóstico dos pacientes, correlacionando informações no âmbito clínico-patológico com o seguimento clínico dos pacientes. Foi realizada revisão de 47 casos do Departamento de Patologia da UNIFESP e as amostras foram submetidas a exame imunohistoquímico com os marcadores proteína p53, fator de proliferação celular Ki-67 e receptor de progesterona. Verificou-se maior expressão na progressão dos diversos graus de agressividade para p53 e Ki-67 e maior frequência de receptores de progesterona nos menores graus. O grupo dos meningiomas grau I com necrose espontânea apresentou índices histológicos e imuno-histoquímicos que se aproximam dos meningiomas grau II. Isto sugere um pior prognóstico dos meningiomas grau I com necrose.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Meningeal Neoplasms/pathology , Meningioma/pathology , Prognosis , Brain/pathology , Follow-Up Studies , Neoplasm Grading , Necrosis
9.
Mem. Inst. Oswaldo Cruz ; 112(11): 741-747, Nov. 2017. graf
Article in English | LILACS | ID: biblio-894844

ABSTRACT

BACKGROUND Dialyzable leukocyte extracts (DLEs) contain molecules smaller than 10 kDa with biological activity in receptor organisms. Primarily, they participate in the regulation of the Th1 immune response, which is essential for the control of several intracellular infections, such as toxoplasmosis. This disease is associated with congenital infection, encephalitis or systemic infections in immunocompromised individuals. The clinical course of this infection fundamentally depends on a well-regulated immune response and timely treatment with the appropriate drugs. OBJECTIVE The aim of this study was to evaluate the effect of treatment with a leukocyte extract, derived from crocodile lymphoid tissue, on the histopathology and brain parasite load in NIH mice that had been infected with cysts of Toxoplasma gondii (ME-49 strain). METHODS The treatment was applied during the acute and chronic stages of the infection. Histopathological changes were evaluated in the ileum, liver and spleen at one, four and eight weeks after infection and in the brain at week 8. The parasite load was evaluated by counting the cysts of T. gondii found in the brain. FINDINGS Compared to the control mouse group, the mice infected with T. gondii and under treatment with DLE showed less tissue damage, mainly at the intestinal, splenic and hepatic levels. In addition, a greater percentage of survival was observed, and there was a considerable reduction in the parasite load in the brain. CONCLUSIONS The results suggest that DLE derived from crocodile is a potential adjunctive therapy in the conventional treatment of toxoplasmosis.


Subject(s)
Animals , Female , Mice , Brain/parasitology , Brain/pathology , Toxoplasmosis, Animal/pathology , Toxoplasmosis, Animal/drug therapy , Transfer Factor/isolation & purification , Transfer Factor/therapeutic use , Alligators and Crocodiles , Lymphoid Tissue/chemistry , Parasites , Spleen/parasitology , Disease Models, Animal
10.
Autops. Case Rep ; 7(3): 13-19, July.-Sept. 2017. ilus
Article in English | LILACS | ID: biblio-905311

ABSTRACT

BRAF protein is a serine/threonine kinase with 766 amino acids. Approximately 15% of human cancers harbor BRAF mutations as well as other BRAF anomalies (amplifications, fusions). Somatic mutations mainly occur in the catalytic kinase domain (CR3), and the predominant mutation is p.V600E which is the substitution of glutamic acid (E) for valine (V) as result of a mutation at codon 600 of the kinase domain. To our knowledge, the vast majority of the cancers have non-germline BRAF mutations. Here we describe a case of a 60-year-old female with a history of hairy cell leukemia (HCL) who presented with aphasia and forgetfulness. A follow-up Brain CT scan showed three distinct brain lesions which were found to be diagnostic of melanoma (confirmed by immunohistochemistry) with no evidence of a concurrent brain involvement by a B-cell neoplasm. Molecular studies confirmed the same BRAF p.V600E mutation in both malignancies (hairy cell leukemia and melanoma). Thereafter the patient was started on BRAF inhibitor treatment and is now symptom-free after one year of follow up. Having two concurrent malignancies with a shared BRAF mutation is extremely rare and makes this an excellent example of a genomic marker-driven treatment in two histologically and immunophenotypically distinct tumors.


Subject(s)
Humans , Female , Middle Aged , Leukemia, Hairy Cell/drug therapy , Melanoma/drug therapy , Proto-Oncogene Proteins B-raf/therapeutic use , Brain/pathology , Proto-Oncogene Proteins B-raf/antagonists & inhibitors
11.
Arq. neuropsiquiatr ; 75(7): 464-469, July 2017.
Article in English | LILACS | ID: biblio-888299

ABSTRACT

ABSTRACT Objective The treatment of multiple sclerosis (MS) has quickly evolved from a time when controlling clinical relapses would suffice, to the present day, when complete disease control is expected. Measurement of brain volume is still at an early stage to be indicative of therapeutic decisions in MS. Methods This paper provides a critical review of potential biases and artifacts in brain measurement in the follow-up of patients with MS. Results Clinical conditions (such as hydration or ovulation), time of the day, type of magnetic resonance machine (manufacturer and potency), brain volume artifacts and different platforms for volumetric assessment of the brain can induce variations that exceed the acceptable physiological rate of annual loss of brain volume. Conclusion Although potentially extremely valuable, brain volume measurement still has to be regarded with caution in MS.


RESUMO Objetivo O tratamento da esclerose múltipla (EM) evoluiu rapidamente de um tempo onde o controle clínico dos surtos era suficiente para o momento atual, quando se almeja o completo controle da doença. Medidas de volume cerebral ainda estão em fases iniciais para utilização nas decisões terapêuticas na EM. Métodos Este artigo fornece uma revisão crítica de potenciais vieses e artefatos na volumetria cerebral utilizada no seguimento de pacientes com EM. Resultados Condições clínicas (como hidratação ou ovulação), hora do dia, tipo de máquina de ressonância magnética (fabricante e força do campo) artefatos de volume e diferentes plataformas de avaliação volumétrica cerebral podem induzir variações que excedem a taxa aceitável de perda anual fisiológica do volume cerebral. Conclusão Embora seja potencialmente de grande valor, a medida de volume cerebral ainda deve ser vista com cautela na EM.


Subject(s)
Humans , Brain/pathology , Multiple Sclerosis/pathology , Atrophy/pathology , Atrophy/diagnostic imaging , Brain/diagnostic imaging , Magnetic Resonance Imaging , Observer Variation , Disease Progression , Multiple Sclerosis/diagnostic imaging
12.
Arq. neuropsiquiatr ; 75(6): 331-338, June 2017. tab, graf
Article in English | LILACS | ID: biblio-838915

ABSTRACT

ABSTRACT Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients had rapidly progressive dementia and three exhibited predominantly ataxic phenotypes with variable ages of onset and disease duration. In this family, age at disease onset in the mother and daughter differed by 39 years. In the second kindred, different phenotypes were also reported and earlier ages of onset were associated with 129 heterozygosis. No differences were associated with apoE genotype. In these kindreds, the codon 129 polymorphism could not explain the clinical variability and 129 heterozygosis was associated with earlier disease onset. Neuropathological examination in two patients confirmed the presence of typical plaques and PrPsc immunopositivity.


RESUMO A doença de Gerstmann-Sträussler-Scheinker é uma doença priônica genética, cuja mutação mais frequente é p.Pro102Leu. Descrevem-se dados clínicos, moleculares e neuropatológicos de sete indivíduos em duas famílias não relacionadas com p.Pro102Leu. Diferenças notáveis entre os pacientes em relação à idade de início, duração da doença e apresentação clínica foram encontradas. Na primeira família, dois pacientes apresentaram demência rapidamente progressiva e três apresentaram fenótipo de ataxia com idade variáveis de início e duração da doença. Nesta família, a idade de início entre mãe e filha diferiu em 39 anos. Na segunda família, fenótipos diferentes foram observados e idades precoces de início dos sintomas foram associadas à heterozigose no códon 129. Não houve diferença em relação ao genótipo do gene da apoE. O genótipo do códon 129 não foi responsável pela variabilidade clínica; heterozigose no códon 129 esteve associada ao início precoce da doença. O exame neuropatológico em dois pacientes confirmou presença de placas típicas e imunohistoquímica para PrPsc.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Young Adult , Prions/genetics , DNA , Gerstmann-Straussler-Scheinker Disease/genetics , Mutation , Pedigree , Phenotype , Polymorphism, Genetic , Brain/pathology , Gerstmann-Straussler-Scheinker Disease/pathology
14.
Arq. bras. med. vet. zootec ; 69(2): 299-304, mar.-abr. 2017.
Article in English | LILACS, VETINDEX | ID: biblio-833816

ABSTRACT

Meningoencephalitis caused by Bovine herpesvirus 5 (BoHV-5) is an important neurological disease that affects Brazilian cattle herds. The present study investigated the presence of BoHV-5 DNA in cattle diagnosed with meningoencephalitis at Faculdade de Medicina Veterinária e Zootecnia, UNESP - Univ Estadual Paulista from 1980 to 2009. The records obtained from the Large Animal Internal Medicine Service and the Animal Pathology Service were reviewed to identify clinical and epidemiological data from cattle with neurological signs. Excluding rabies cases, we found 115 cases of cattle with neurological signs that had been necropsied. Non-suppurative meningoencephalitis was diagnosed in 28 animals of the 115 initially selected based on histopathological examination of brain tissues. Of these 28 animals, 15 (54%) were positive for BoHV-5 DNA by polymerase chain reaction (PCR) of formalin-fixed paraffin-embedded (FFPE) brain samples. PCR target was 159-bp fragment from the BoHV-5 glycoprotein C gene. The oldest case identified in the present study was from 1988. PCR was a good tool for the diagnosis of BoHV-5 DNA extracted from FFPE tissues, allowing retrospective studies of samples stored for more than 20 years.(AU)


A meningoencefalite por herpesvírus bovino-5 (BoHV-5) é uma doença neurológica importante no rebanho bovino brasileiro. Este estudo tem por objetivo verificar a presença do DNA de BoHV-5 em bovinos diagnosticados com meningoencefalite na Faculdade de Medicina Veterinária e Zootecnia da Universidade Estadual Paulista, entre os anos de 1980 e 2009. Foram revisados os arquivos do Serviço de Clínica de Grandes Animais e da Patologia Animal em busca dos dados clínicos e epidemiológicos de bovinos com sinais neurológicos. Excluídos os casos de raiva, foram encontrados 115 casos de bovinos com sinais neurológicos, que foram necropsiados. O exame histopatológico realizado nos tecidos encefálicos desses animais constatou lesões de meningoencefalite não supurativa em 28 animais. Destes, em 15 (54%) casos foi identificada a presença do DNA de BoHV-5 por meio de PCR realizada em amostras de tecido encefálico fixadas em formalina e incluídas em parafina (FFPE). O alvo da PCR foi um fragmento de 159 pb do gene da glicoproteína C do BoHV-5. O caso mais antigo identificado neste estudo foi de 1988. A PCR apresentou-se como boa ferramenta para o diagnóstico do DNA de BoHV-5 extraído de tecidos FFPE, possibilitando estudos retrospectivos e diagnóstico de amostras com mais de 20 anos de armazenamento.(AU)


Subject(s)
Animals , Cattle , Brain/pathology , Glycoproteins/analysis , Herpesvirus 5, Bovine/isolation & purification , Meningoencephalitis/veterinary , Paraffin Embedding/veterinary , Polymerase Chain Reaction/veterinary
15.
Int. j. morphol ; 35(1): 376-385, Mar. 2017. ilus
Article in Spanish | LILACS | ID: biblio-840982

ABSTRACT

El síndrome de Asperger (SA) es un trastorno del neurodesarrollo que se caracteriza por presentar deterioros cualitativos de las interacciones sociales recíprocas y de los modos de comunicación, como también por la restricción del repertorio de intereses y de actividades que se aprecian estereotipadas y repetitivas. En la actualidad, el Manual Diagnóstico y Estadístico de Trastornos Mentales (DSM-V) decide eliminar esta subcategoría e incorporarla en una categoría general conocida como trastorno del espectro autista (TEA), lo que ha producido muchos debates y desacuerdos principalmente por distingirlo o no, con el autismo del alto funcionamiento (AAF). Un enfoque para resolver esta cuestión corresponde a los esfuerzos que se realizan por comprender la neuroanatomía estructural y funcional del TEA y del SA en particular, sin embargo, estas aproximaciones han dado lugar a resultados variables, debido a las diferencias en la edad, género, subcategorías y coefieciente intelectual de los sujetos de estudio, así como por criterios de inclusión y metodología de estudio. En base a lo anterior, el objetivo de esta revisión fue exponer el conocimiento actual de las características neuroanatómicas del SA considerando para esto aquellas investigaciones del TEA que individualizan este trastorno como entidad diagnóstica y lo diferencian del AAF.


The asperger syndrome (AS) is a neurodevelopmental disorder that is characterized by qualitative deterioration of reciprocal social interactions and communication methods, as well as by the restriction of the repertoire of interests and activities that are perceived as stereotyped and repetitive. Actually, the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) decides to eliminate this subcategory and to incorporate it into a general category known as autism spectrum disorder (ASD), which has produced many debates and disagreements mainly to distinguish it or not with High Functioning Autism (HFA). One approach to address this question is the effort to understand the structural and functional neuroanatomy of ASD and AS in particular; however, this approach has led to variable outcomes, often due to differences in age, gender, subcategories and IQ of study subjects, as well as by inclusion criteria and study methodology. Based on the above-mentioned, the aim of this review was to present the current knowledge of the neuroanatomical characteristics of AS considering for this the investigations of the ASD that individualize this disorder as a diagnostic entity and differentiate it from HFA.


Subject(s)
Humans , Asperger Syndrome/diagnosis , Asperger Syndrome/pathology , Brain/pathology , Neuroanatomy
16.
CoDAS ; 29(5): e20170035, 2017. tab
Article in Spanish | LILACS | ID: biblio-890796

ABSTRACT

RESUMEN Objetivo Estudiar la relación entre la percepción del cuidador sobre el deterioro en el habla espontánea del paciente, según un ítem de cuatro preguntas administradas mediante entrevista semiestructurada, y el desempeño del paciente en la Evaluación Breve de la Afasia (EBA). Método Se examinaron 102 pacientes diestros, con lesiones cerebrales focales de diferente tipo y localización. EBA es un instrumento válido y confiable para la medida de la afasia. Se correlacionó la percepción del cuidador con el ítem de habla espontánea, la puntuación total y los tres principales factores de EBA: el factor de Expresión, el de Comprensión y el Complementario. Se analizó la precisión (sensibilidad-especificidad) de la percepción del cuidador sobre el habla espontánea del paciente, respecto de la presencia o ausencia de trastorno, según el profesional, en el ítem de habla espontánea de EBA. Resultados La correlación estudiada fue satisfactoria, siendo mayor (superior al 80%) para los siguientes indicadores: el ítem de habla espontánea, el factor de Expresión y la puntuación total de la escala; la correlación fue un poco menor (superior al 70%) para el factor de Comprensión y el Complementario. Comparando dos puntos de corte que evaluaron la precisión en la percepción del cuidador, se observaron resultados satisfactorios en términos de sensibilidad y especificidad (>70%), con cocientes de probabilidad superiores a 3. Usando la mediana como punto de corte, se obtuvieron discriminaciones diagnósticas más satisfactorias. Conclusión Entrevistar al cuidador específicamente sobre el habla espontánea del paciente, en forma abreviada, proporciona información relevante para el diagnóstico de la afasia.


ABSTRACT Purpose To study the relationship between the caregiver's perception about the patient's impairment in spontaneous speech, according to an item of four questions administered by semi-structured interview, and the patient's performance in the Brief Aphasia Evaluation (BAE). Methods 102 right-handed patients with focal brain lesions of different types and location were examined. BAE is a valid and reliable instrument to assess aphasia. The caregiver's perception was correlated with the item of spontaneous speech, the total score and the three main factors of the BAE: Expression, Comprehension and Complementary factors. The precision (sensitivity/ specificity) about the caregiver's perception of the patient's spontaneous speech was analyzed with reference to the presence or absence of disorder, according to the professional, on the BAE item of spontaneous speech. Results The studied correlation was satisfactory, being greater (higher than 80%) for the following indicators: the item of spontaneous speech, the Expression factor and the total score of the scale; the correlation was a little smaller (higher than 70%) for the Comprehension and Complementary factors. Comparing two cut-off points that evaluated the precision of the caregiver's perception, satisfactory results were observed in terms of sensitivity and specificity (>70%) with likelihood ratios higher than three. By using the median as the cut-off point, more satisfactory diagnostic discriminations were obtained. Conclusion Interviewing the caregiver specifically on the patient's spontaneous speech, in an abbreviated form, provides relevant information for the aphasia diagnosis.


Subject(s)
Humans , Male , Female , Adult , Aphasia/diagnosis , Surveys and Questionnaires , Caregivers/psychology , Aphasia/psychology , Brain/pathology , Middle Aged , Neuropsychological Tests
17.
Oman Medical Journal. 2017; 32 (1): 66-68
in English | IMEMR | ID: emr-185728

ABSTRACT

Mutations in the C19 or f12 gene are known to cause mitochondrial membrane protein associated neurodegeneration [MPAN], which is a neurodegeneration with brain iron accumulation [NBIA] type 4 disorder. To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from Oman. A novel homozygous deletion of exon 2 of the C19 or f12 gene was confirmed on the proband, a seven-year old girl, who presented with gait instability. Brain magnetic resonance imaging showed iron deposition on the basal ganglia. This report highlights the importance of genetic testing of such a clinically and genetically heterogeneous condition among a population with a high consanguinity rate. To overcome the diagnostic difficulty, implementation of a cost-effective approach to perform cascade screening of carriers at risk is needed as well as programs to address risky consanguineous marriages


Subject(s)
Child , Female , Humans , Brain/pathology , Mitochondrial Proteins/genetics , Consanguinity , Sequence Deletion
18.
Arq. neuropsiquiatr ; 74(12): 953-966, Dec. 2016. tab, graf
Article in English | LILACS | ID: biblio-828003

ABSTRACT

ABSTRACT Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.


RESUMO O transplante de células tronco hematopoiéticas (TCTH) é o único tratamento disponível para o envolvimento neurológico de doenças como a leucodistrofia metacromática (MLD), a mucopolissacaridose tipo I-Hurler (MPS-IH) e a adrenoleucodistrofia (CALD). Objetivos Descrever a sobrevida e os desfechos neurológicos após o TCTH nessas doenças. Métodos Sete pacientes CALD, 2 MLD e 2 MPS-IH realizaram TCTH entre 2007 e 2014. Avaliações neurológicas, ressonância nuclear magnética e estudos bioquímicos e moleculares foram feitos no baseline e repetidos quando apropriado. Resultados Desfechos favoráveis foram obtidos em 4/5 TCTH de doadores relacionados e em 3/6 não relacionados. Dois pacientes faleceram de complicações do procedimento. Nove transplantados sobreviveram após uma mediana de 3,7 anos: estabilização neurológica foi obtida em 5/6 CALD, ½ MLD e em um caso MPS-IH. As lesões encefálicas de um caso MPS-IH reduziram-se quatro anos após o TCTH. Conclusão Bons desfechos foram obtidos quando o TCTH foi feito antes da vida adulta, cedo no curso clínico e/ou a partir de um doador relacionado.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Young Adult , Mucopolysaccharidosis I/surgery , Hematopoietic Stem Cell Transplantation/mortality , Adrenoleukodystrophy/surgery , Leukodystrophy, Metachromatic/surgery , Pedigree , Tissue Donors , Brain/pathology , Brain/diagnostic imaging , Brazil/epidemiology , Magnetic Resonance Imaging , Retrospective Studies , Treatment Outcome , Mucopolysaccharidosis I/genetics , Mucopolysaccharidosis I/mortality , Age of Onset , Adrenoleukodystrophy/genetics , Adrenoleukodystrophy/mortality , Transplantation Conditioning/methods , White Matter/diagnostic imaging , Leukodystrophy, Metachromatic/genetics , Leukodystrophy, Metachromatic/mortality
20.
Acta cir. bras ; 31(3): 198-205, Mar. 2016. tab, graf
Article in English | LILACS | ID: lil-777088

ABSTRACT

ABSTRACT PURPOSE: To investigate the protective effect of Bg on cisplatin (CP)-induced neurotoxicity in rats. METHODS: Twenty eight rats were randomly distributed into four groups. The first group was kept as a control. In the second group, CP was given at the single dose of 7 mg/kg intraperitoneally. In the third group, βg was orally administered at the dose of 50 mg/kg/day for 14 days. In the fourth group, CP and βg were given together at the same doses. RESULTS: CP treatment caused significant oxidative damage via induction of lipid peroxidation and reductions antioxidant defense system potency in the brain tissue. In addition, histopathological damage increased with CP treatment. On the other hand, βg treatment largely prevented oxidative and histopathological negative effects of CP. CONCLUSIONS: Cisplatin has severe neurotoxic effects in rats and βg supplementation has significant beneficial effects against CP toxicity depending on its antioxidant properties. Thus, it appears that βg might be useful against CP toxicity in patients with cancer in terms of nervous system.


Subject(s)
Animals , Male , Brain/drug effects , Brain Diseases/prevention & control , Cisplatin/adverse effects , beta-Glucans/pharmacology , Antineoplastic Agents/adverse effects , Brain/metabolism , Brain/pathology , Brain Diseases/chemically induced , Brain Diseases/pathology , Random Allocation , Cerebral Cortex/drug effects , Cerebral Cortex/metabolism , Cerebral Cortex/pathology , Cisplatin/metabolism , Rats, Sprague-Dawley , Oxidative Stress , Protective Agents/pharmacology , Models, Animal , Antineoplastic Agents/metabolism
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