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1.
Gac. méd. Méx ; 158(6): 410-418, nov.-dic. 2022. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1430371

ABSTRACT

Resumen Introducción: La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad del sistema nervioso central rápidamente progresiva y mortal causada por priones. Objetivo: Presentar las principales características clínicas y paraclínicas de pacientes con probable ECJ en un centro de referencia de América Latina. Métodos: Estudio retrospectivo de pacientes diagnosticados con demencia rápidamente progresiva entre 2014 y 2019. Se incluyeron características clínicas, demográficas, del electroencefalograma, imágenes por resonancia magnética, proteína 14-3-3 y tomografía por emisión de positrones (PET), cuando estaba disponible. Resultados: Veinticuatro pacientes cumplieron con los criterios de ECJ esporádica (75 % mujeres), la edad media fue de 59.29 ± 11.67 años, la duración de la enfermedad desde el inicio de los síntomas hasta el ingreso hospitalario fue de 7.41 ± 6.54 meses y las primeras manifestaciones más comunes fueron las alteraciones del comportamiento (41.7 %). Los complejos de ondas delta prevalecieron en el electroencefalograma (54.2 %), la hiperintensidad cortical en la resonancia magnética (83.3 %) y el hipometabolismo frontal en la PET (37.5 %). En el análisis del líquido cefalorraquídeo, siete casos mostraron proteína tau total positiva; cinco, proteína 14-3-3 positiva; y tres, proteína tau hiperfosforilada positiva. Conclusiones: Existe importante heterogeneidad clínica en cuanto a los síntomas iniciales. Los hallazgos de las pruebas auxiliares coincidieron con los de otras series.


Abstract Introduction: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and fatal central nervous system disease caused by prions. Objective: To present the main clinical and paraclinical characteristics of patients with probable CJD in a referral center of Latin America. Methods: Retrospective study of patients diagnosed with rapidly progressive dementia between 2014 and 2019. Clinical, demographic, electroencephalogram, magnetic resonance imaging, and 14-3-3 protein characteristics were included, as well as positron-emission tomography (PET) data when available. Results: Twenty-four patients met the criteria for sporadic CJD (75% were women). Mean age was 59.29 ± 11.67 years, while mean disease duration from symptom onset to hospital admission was 7.41 ± 6.54 months. The most common first symptom was behavioral changes (41.7%). Delta wave complexes prevailed (54.2%) on electroencephalogram, cortical hyperintensity (83.3%) on magnetic resonance and frontal hypometabolism (37.5%) on PET. Seven cases showed positive total Tau; five, positive 14-3-3 protein; and three, positive phosphorylated tau on cerebrospinal fluid analysis. Conclusions: There is significant clinical heterogeneity regarding initial symptoms. Auxiliary test findings were consistent with those of other series.

2.
Gac Med Mex ; 158(6): 401-409, 2022.
Article in English | MEDLINE | ID: mdl-36657127

ABSTRACT

INTRODUCTION: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and fatal central nervous system disease caused by prions. OBJECTIVE: To present the main clinical and paraclinical characteristics of patients with probable CJD in a referral center of Latin America. METHODS: Retrospective study of patients diagnosed with rapidly progressive dementia between 2014 and 2019. Clinical, demographic, electroencephalogram, magnetic resonance imaging, and 14-3-3 protein characteristics were included, as well as positron-emission tomography (PET) data when available. RESULTS: Twenty-four patients met the criteria for sporadic CJD (75% were women). Mean age was 59.29 ± 11.67 years, while mean disease duration from symptom onset to hospital admission was 7.41 ± 6.54 months. The most common first symptom was behavioral changes (41.7%). Delta wave complexes prevailed (54.2%) on electroencephalogram, cortical hyperintensity (83.3%) on magnetic resonance and frontal hypometabolism (37.5%) on PET. Seven cases showed positive total Tau; five, positive 14-3-3 protein; and three, positive phosphorylated tau on cerebrospinal fluid analysis. CONCLUSIONS: There is significant clinical heterogeneity regarding initial symptoms. Auxiliary test findings were consistent with those of other series.


INTRODUCCIÓN: La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad del sistema nervioso central rápidamente progresiva y mortal causada por priones. OBJETIVO: Presentar las principales características clínicas y paraclínicas de pacientes con probable ECJ en un centro de referencia de América Latina. MÉTODOS: Estudio retrospectivo de pacientes diagnosticados con demencia rápidamente progresiva entre 2014 y 2019. Se incluyeron características clínicas, demográficas, del electroencefalograma, imágenes por resonancia magnética, proteína 14-3-3 y tomografía por emisión de positrones (PET), cuando estaba disponible. RESULTADOS: Veinticuatro pacientes cumplieron con los criterios de ECJ esporádica (75 % mujeres), la edad media fue de 59.29 ± 11.67 años, la duración de la enfermedad desde el inicio de los síntomas hasta el ingreso hospitalario fue de 7.41 ± 6.54 meses y las primeras manifestaciones más comunes fueron las alteraciones del comportamiento (41.7 %). Los complejos de ondas delta prevalecieron en el electroencefalograma (54.2 %), la hiperintensidad cortical en la resonancia magnética (83.3 %) y el hipometabolismo frontal en la PET (37.5 %). En el análisis del líquido cefalorraquídeo, siete casos mostraron proteína tau total positiva; cinco, proteína 14-3-3 positiva; y tres, proteína tau hiperfosforilada positiva. CONCLUSIONES: Existe importante heterogeneidad clínica en cuanto a los síntomas iniciales. Los hallazgos de las pruebas auxiliares coincidieron con los de otras series.


Subject(s)
Creutzfeldt-Jakob Syndrome , Prions , Humans , Female , Middle Aged , Aged , Male , Creutzfeldt-Jakob Syndrome/diagnostic imaging , Creutzfeldt-Jakob Syndrome/cerebrospinal fluid , Mexico/epidemiology , Retrospective Studies , 14-3-3 Proteins/cerebrospinal fluid , Prions/cerebrospinal fluid , Magnetic Resonance Imaging , Electroencephalography , Brain
3.
Rev Invest Clin ; 70(6): 285-290, 2018.
Article in English | MEDLINE | ID: mdl-30532098

ABSTRACT

BACKGROUND: The use of single-photon emission computed tomography and positron emission tomography (PET) has proven to be helpful in differentiating Parkinson's disease (PD) from other movement disorders with a sensitivity of up to 95%. OBJECTIVE: The objective of this study was to determine the accuracy of [11C]DTBZ PET imaging in patients with clinically uncertain parkinsonism from a tertiary referral center in Mexico City. MATERIALS AND METHODS: Patients who underwent [11C]DTBZ PET brain scan due to clinically uncertain parkinsonism where divided into two groups: PD or non-PD. A scan was considered positive when visual assessment revealed a decrease in [11C]DTBZ uptake typical for PD; a scan was considered negative when visual assessment showed no decrease in [11C]DTBZ uptake or showed a decrease in tracer uptake in a non-PD pattern. Sensitivity, specificity, and positive and negative predictive values were calculated using a 2 × 2 table, with a 95% confidence interval. RESULTS: A total of 39 patients were included in the study. 14 PET studies were deemed positive and 25 PET studies were deemed negative; 12 true positives and 23 true negatives were found. This yielded a sensitivity of 92.9% (95% CI, 66.1-99.8), specificity of 92% (95% CI, 74-99), PPV of 86.7% (95% CI, 63.1-96.1), and NPV of 95.8% (95% CI, 79.1-98.4). CONCLUSIONS: The [11C]DTBZ PET has an excellent accuracy for differentiating idiopathic PD from other disorders.


Subject(s)
Brain/diagnostic imaging , Parkinson Disease/diagnostic imaging , Parkinsonian Disorders/diagnostic imaging , Tomography, Emission-Computed, Single-Photon/methods , Adult , Aged , Carbon Radioisotopes , Female , Humans , Male , Mexico , Middle Aged , Parkinson Disease/physiopathology , Parkinsonian Disorders/physiopathology , Predictive Value of Tests , Radiopharmaceuticals/chemistry , Reproducibility of Results , Sensitivity and Specificity , Tetrabenazine/analogs & derivatives , Tetrabenazine/chemistry
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