RESUMO
Introducción: Se entiende por lesión catastrófica a cualquier trauma grave que comprometa la cabeza, el cerebro, la columna vertebral o la médula espinal, que pone en riesgo la vida o puede dejar una discapacidad permanente o semipermanente. En la Argentina, la incidencia de lesionados en el ámbito del rugby es alta comparada con la de otros países. En los últimos años, se han implementado múltiples medidas de prevención y se han modificado normas con el objetivo de evitar las lesiones catastróficas. materiales y métodos: Se analizaron datos obtenidos de una encuesta telefónica realizada en el marco de colaboración entre la Unión Argentina de Rugby y la Fundación para la Lucha de Enfermedades Neurológicas de la Infancia (Fleni). Se realizó un análisis descriptivo de los datos. Se recopilaron los cambios en las normativas del deporte, que pudieran tener impacto en las futuras lesiones. Resultados: Se observa que el número de lesiones se mantiene estable año tras año. Al asociar este dato con un aumento sostenido de la cantidad de jugadores por año, impresiona haber una disminución relativa del riesgo de lesionarse. Conclusiones: Las lesiones catastróficas generan un gran impacto en la calidad de vida del jugador y de su entorno. Deben considerarse inadmisibles y se deben incrementar los esfuerzos para lograr eliminar los riesgos de lesionarse. El esfuerzo de las entidades reguladoras impresiona tener un impacto positivo al haberse logrado una reducción relativa de las lesiones en relación con el aumento de jugadores año tras año. Nivel de Evidencia: IV
Introduction: A catastrophic injury is defined as any serious trauma that involves the head, brain, spine, or spinal cord. They are life-threatening or may leave a permanent or semi-permanent disability. In Argentina, there is a high incidence of injuries. materials and methods: Data obtained from a t elephone survey carried out in the collaborative framework between the Union Argentina de Rugby and the Fundación para la Lucha de Enfermedades Neurológicas de la Infancia (Fleni, by its acronym) were analyzed. We carried out a qualitative analysis of the data and their relationship to progressive changes in sports regulations. Results: It was observed that the number of injuries remained stable year after year. When associating this fact with a sustained increase in the number of players per year, we can see a relative decrease in the risk of injury. Conclusion: Catastrophic injuries have a gr eat impact on the quality of life of the player and his environment. They must be considered inadmissible and the efforts must be increased to achieve zero risk. In recent years, multiple preventive measures have been implemented and regulations have been modified in order to avoid catastrophic injuries. Level of Evidence: IV
Assuntos
Traumatismos em Atletas , Traumatismos da Medula Espinal , Doença Catastrófica , Futebol Americano/lesões , Futebol Americano/estatística & dados numéricosAssuntos
Coreia/diagnóstico , Adulto , Coreia/tratamento farmacológico , Coreia/genética , Coreia/terapia , Feminino , Humanos , Hidroxiureia/uso terapêutico , Janus Quinase 2/genética , Imageamento por Ressonância Magnética , Mutação , Inibidores da Síntese de Ácido Nucleico/uso terapêutico , FlebotomiaRESUMO
Early recognition and prompt specific treatment are crucial factors influencing the outcome of patients with acute encephalitis. The aim of this study was to determine the main causes of acute encephalitis in our population and to find predictors that may lead to specific diagnosis. Adult patients admitted to our hospital with suspected diagnosis of encephalitis in the period 2006-2013 were included. One hundred and five medical records were analyzed. Eighty-two patients with infectious encephalitis were identified (78% of total cases), 53 (65%) men and 29 (35%) women, mean age 47.8 years. The most common microorganisms identified were: HSV-1 (11%), VZV (10%), HSV-2 (5%) and EBV (5%). Twenty-three patients (22% of the series) had non-infectious encephalitis. Headache (p < 0.0001) and fever (p = 0.008) were more frequent in encephalitis of infectious origin. Protein levels and white blood cell counts in the cerebrospinal fluid were significantly higher in patients affected by infectious encephalitis than in those affected by noninfectious encephalitis (OR 95% CI 12.3 [2.9-51.7] and OR 95% CI 7.4 [2-27], respectively). Identifying specific causal agents of acute encephalitis remains a major challenge. Cerebrospinal fluid markers, as well as specific clinical findings, may however contribute to initial differentiation between infectious and noninfectious causes.
Assuntos
Encefalite/líquido cefalorraquidiano , Encefalite/diagnóstico , Encefalite Infecciosa/líquido cefalorraquidiano , Encefalite Infecciosa/diagnóstico , Adolescente , Adulto , Idoso , Anti-Infecciosos/uso terapêutico , Anticorpos , Antivirais/uso terapêutico , Diferenciação Celular , Líquido Cefalorraquidiano , Diagnóstico Diferencial , Diagnóstico Precoce , Encefalite/tratamento farmacológico , Encefalite Viral/líquido cefalorraquidiano , Encefalite Viral/diagnóstico , Encefalite Viral/tratamento farmacológico , Feminino , Humanos , Encefalite Infecciosa/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
Early recognition and prompt specific treatment are crucial factors influencing the outcome of patients with acute encephalitis. The aim of this study was to determine the main causes of acute encephalitis in our population and to find predictors that may lead to specific diagnosis. Adult patients admitted to our hospital with suspected diagnosis of encephalitis in the period 2006-2013 were included. One hundred and five medical records were analyzed. Eighty-two patients with infectious encephalitis were identified (78% of total cases), 53 (65%) men and 29 (35%) women, mean age 47.8 years. The most common microorganisms identified were: HSV-1 (11%), VZV (10%), HSV-2 (5%) and EBV (5%). Twenty-three patients (22% of the series) had non-infectious encephalitis. Headache (p < 0.0001) and fever (p = 0.008) were more frequent in encephalitis of infectious origin. Protein levels and white blood cell counts in the cerebrospinal fluid were significantly higher in patients affected by infectious encephalitis than in those affected by noninfectious encephalitis (OR 95% CI 12.3 [2.9-51.7] and OR 95% CI 7.4 [2-27], respectively). Identifying specific causal agents of acute encephalitis remains a major challenge. Cerebrospinal fluid markers, as well as specific clinical findings, may however contribute to initial differentiation between infectious and noninfectious causes.
El reconocimiento temprano y la instauración del tratamiento adecuado son dos elementos de gran relevancia en el pronóstico de las encefalitis agudas. El objetivo del presente trabajo es determinar las principales causas de encefalitis aguda en nuestro medio, así como buscar predictores que permitan orientar a un diagnóstico determinado. Se revisaron de manera retrospectiva las historias clínicas de todos los pacientes adultos que consultaron en nuestro centro entre 2006 y 2013 con el diagnóstico presuntivo de encefalitis. Ciento cinco pacientes fueron finalmente incluidos en nuestro estudio. Se identificaron 82 pacientes con encefalitis de origen infeccioso (78%), 53 (65%) fueron hombres y 29 (35%) mujeres, con una edad promedio de 47.8 años. Los agentes infecciosos más frecuentes fueron virus: HSV-1 12 (11%), VZV 11 (10%), HSV-2 5 (5%) y EBV 5 (5%). Se diagnosticó encefalitis no infecciosa en 23 (22%) pacientes. La cefalea (p < 0.0001) y la fiebre (p = 0.008) fueron más frecuentes en las encefalitis de origen infeccioso. Además, los niveles de proteínas y células en el LCR fueron significativamente mayores en los casos de etiología infecciosa que en los de etiología no infecciosa (OR 12.3 95%CI [2.9-51.7] y OR 7.4 95%CI [2-27], respectivamente). La identificación de la etiología específica de las encefalitis agudas continúa siendo un gran desafío y en la mayoría de los casos no se identifica el agente causal. Determinados marcadores en el LCR pueden contribuir a la identificación inicial de las encefalitis de etiología infecciosa versus no infecciosa.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Encefalite/diagnóstico , Encefalite/líquido cefalorraquidiano , Encefalite Infecciosa/diagnóstico , Encefalite Infecciosa/líquido cefalorraquidiano , Antivirais/uso terapêutico , Prognóstico , Diferenciação Celular , Líquido Cefalorraquidiano , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Diagnóstico Precoce , Diagnóstico Diferencial , Anti-Infecciosos/uso terapêutico , AnticorposAssuntos
Doença de Alzheimer/líquido cefalorraquidiano , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Encefalite/imunologia , Idoso , Doença de Alzheimer/complicações , Biomarcadores/líquido cefalorraquidiano , Encefalite/líquido cefalorraquidiano , Encefalite/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Pathologic expansion of the G4C2 repeat in C9orf72 is the main genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). To evaluate the frequency of the G4C2 expansion in a Latin American cohort of FTD and ALS patients, we used a 2-step genotyping strategy. For FTD, we observed an overall expansion frequency of 18.2% (6 of 33 unrelated cases). Moreover, the C9orf72 expansion accounted for 37.5% of all familial FTD cases (6 of 16 families). The expansion frequency in sporadic ALS cases was 2% (1 of 47 unrelated patients), whereas we observed the expansion in 1 of 3 families with a positive history for ALS. Overall, the expansion frequency in our FTD group was similar to that reported for patients in Europe and North America, whereas the frequency in our sporadic ALS group was significantly lower. To our knowledge, this is the first report on the frequency of the C9orf72 expansion in a Latin American population.
Assuntos
Esclerose Lateral Amiotrófica/genética , Expansão das Repetições de DNA/genética , Demência Frontotemporal/genética , Proteínas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Argentina , Proteína C9orf72 , Feminino , Técnicas de Genotipagem/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase/métodos , Adulto JovemRESUMO
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an acquired disease that may affect nerve roots and peripheral nerves. Despite its low incidence, diagnosis is particularly important because there are different effective treatments. Human immunoglobulin is one of the mainstays of the treatment. Although there are few studies up to date, subcutaneous immunoglobulin (IgSC) has been proposed as an alternative to intravenous administration with similar efficacy. We present three cases with definite CIDP, classified according to the European Federation of Neurological Societies / Peripheral Nerve, Society (EFNS /PNS) criteria in which was used SCIgG as a treatment after success with the intravenous route. The Overall Neuropathy Limitations Scale (ONLS) was used to estimate the changes in the muscular strength before and after treatment.
Assuntos
Imunoglobulinas Intravenosas/uso terapêutico , Imunoglobulinas/uso terapêutico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/tratamento farmacológico , Adulto , Idoso , Humanos , Imunoglobulinas/administração & dosagem , Injeções Subcutâneas , Imageamento por Ressonância Magnética , Masculino , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Resultado do TratamentoRESUMO
La polineuropatía desmielinizante inflamatoria crónica (CIDP) es una enfermedad adquirida que puede afectar a raíces, plexos y nervios periféricos. A pesar de su baja incidencia, su diagnóstico cobra especial relevancia dado que actualmente existen tratamientos efectivos para la misma. La gammaglobulina humana endovenosa (IVIgG) es, junto con los esteroides y la plasmaféresis, uno de los tratamientos de primera elección. La vía de administración subcutánea se ha propuesto como una alternativa novedosa frente a la administración endovenosa con una eficacia similar. Presentamos tres casos de CIDP definitiva, clasificados según los criterios de la European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) en los cuales se utilizó tratamiento crónico con inmunoglobulina subcutánea (IgSC). Todos ellos habían recibido tratamiento previo con IVIgG. Se obtuvo mejoría de la fuerza evaluada por Overall Neuropathy Limitations Scale (ONLS) y los tres pacientes manifestaron una mejor adaptación a sus actividades de la vida diaria.
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an acquired disease that may affect nerve roots and peripheral nerves. Despite its low incidence, diagnosis is particularly important because there are different effective treatments. Human immunoglobulin is one of the mainstays of the treatment. Although there are few studies up to date, subcutaneous immunoglobulin (IgSC) has been proposed as an alternative to intravenous administration with similar efficacy. We present three cases with definite CIDP, classified according to the European Federation of Neurological Societies / Peripheral Nerve, Society (EFNS /PNS) criteria in which was used SCIgG as a treatment after success with the intravenous route. The Overall Neuropathy Limitations Scale (ONLS) was used to estimate the changes in the muscular strength before and after treatment.