Caracterización nutricional y de calidad de vida en pacientes de esclerosis múltiple

Objetivos: Caracterizar el estado nutricional y la calidad de vida en pacientes de Esclerosis Múltiple (EM), y su relación con el grado de discapacidad física. Material y Métodos: Se realizó un estudio de tipo descriptivo y transversal, en el que se incluyeron 31 pacientes diagnosticados de Esclerosis Múltiple. Dichos pacientes pertenecían al Centro Integral de Enfermedades Neurológicas de la ciudad de Albacete o a la Asociación de Esclerosis Múltiple de Almería. Para la caracterización nutricional se emplearon: a) Datos analíticos (bioquímica clásica, perfil lipídico y perfil hepático); b) Medidas antropométricas; c) Cuestionario de frecuencia de consumo; d) Recordatorio de 24 horas; e) Cuestionario Nutrition Screening Initiative Check List. Para la caracterización de la calidad de vida se emplearon: a) Cuestionario EuroQol-5D; b) Cuestionario MSQOl-54; c) Índice de Barthel; d) Índice de Katz; e) Test de Tinetti para evaluar la movilidad y la marcha. Resultados: 14 pacientes presentaban un grado de discapacidad física leve y 17 pacientes un grado de discapacidad moderado-severo. Los pacientes con EM presentaron unos valores en la analítica (bioquímica general, perfil lipídico y perfil hepático) dentro del intervalo óptimo, sin diferencias significativas entre los dos grupos de estudio. Los datos antropométricos fueron similares en ambos grupos. Tampoco se observaron diferencias, atendiendo al grado de discapacidad, en la evaluación nutricional realizada mediante el Cuestionario de frecuencia de consumo y el Recordatorio de 24 horas. En relación a los macronutrientes, destacó un alto aporte de lípidos, principalmente ácidos grasos saturados, y un alto contenido en proteínas. Además, era una dieta pobre en hidratos de carbono y algo baja en fibra. Respecto a los micronutrientes, el contenido en zinc, iodo, folato y retinol también se encontró por debajo de los requerimientos diarios. Mediante el Cuestionario Nutrition Screening Initiative Check List se comprobó que los pacientes con grado de discapacidad moderado-severo presentaron un riesgo de malnutrición más elevado que los pacientes con grado de discapacidad leve, sin que esta diferencia fuese estadísticamente significativa. Los pacientes con grado de discapacidad moderado-severo presentaron una evaluación inferior de calidad de vida que los pacientes con grado de discapacidad leve. Las dimensiones en las que se observaron diferencias estadísticamente significativas fueron la movilidad (p=0.028), salud física (p=0.04), energía (p=0.019), percepción de salud (p=0.026), calidad de vida en su conjunto (p=0.029) y dimensión física (p=0.026). La dimensión mental no se vio tan afectada por el grado de discapacidad. Los pacientes con grado de discapacidad moderado-severo presentaron un nivel de dependencia mayor que los pacientes con grado de discapacidad leve para realizar las actividades básicas de la vida diaria. Atendiendo al índice de Barthel, los ítems más afectados fueron: baño, movilidad, subir y bajar escaleras y el control de la vejiga. Atendiendo al índice de Katz, el nivel de dependencia fue mayor en los pacientes con grado de discapacidad moderado-severo, aunque sin alcanzar la significación estadística. Los pacientes con grado de discapacidad leve no presentaron riesgo de caídas, sin embargo los pacientes con grado de discapacidad moderado-severo tenían un alto riesgo de caídas. Conclusiones: La caracterización nutricional de los pacientes con EM es similar en ambos grupos de estudio. Existen desequilibrios en la alimentación por un aporte insuficiente de hidratos de carbono, zinc, iodo, folato y retinol. Por el contrario, existe un alto consumo de proteínas y grasas. Se recomienda aumentar el consumo de frutas, verduras, cereales integrales y reducir el consumo de mantequilla, bollería, embutidos y otros alimentos ricos en grasas saturadas. Los pacientes con grado de discapacidad moderado-severo presentan una peor puntuación en la calidad de vida, una menor capacidad para realizar las actividades básicas de la vida diaria y un mayor riesgo de caídas. Objectives: Characterize nutritional condition and quality of life in patients with multiple sclerosis (ME), and their connection with the degree of physical capacity. Material and methods: It was carried out a study of descriptive and transversal type, on which 31 patients diagnosed of Multiple Sclerosis were included. Such patients belonged to the Integral Centre of Neurological Diseases of Albacete city or to the Multiple Sclerosis Association of Almería. For the nutritional characterization it was employed: a) Analytic data (classic biochemistry, lipid profile and hepatic profile; b) Anthropometric measures; c) Questionnaire of consumption frequency; d) 24 hour reminder; e) Nutrition questionnaire “Nutrition Screening Initiative Check List”. For the quality of life characterization it was employed: a) EuroQol-5D questionnaire; b) MSQOl-54 questionnaire; c) Barthel index ; d) Katz index ; e) Tinetti test to assess mobility and walk. Results: 14 patients showed a degree of slight physic disability and 17 patients a degree of moderate-severe disability. Patients with ME showed some values in the analytics (general biochemistry, lipid profile and hepatic profile) within the peak interval, without significant differences between the two study groups. Anthropometric data were similar in both groups. Paying attention to the degree of disability, there were not observed differences either in the nutritional assessment, carried out through Questionnaire of consumption frequency and 24 hour reminder. With regard to macronutrients, it was stressed a high contribution of lipids, mainly saturated fat acids, and a high content in proteins. Besides, it was a poor diet in carbohydrates and a bit low in fibre. With regard to micronutrients, content in zinc, iodine, folate and retinol was also found below the daily requirements. Through Nutrition Screening Initiative Check List Questionnaire it was checked that patients with a degree of moderate-severe disability showed a higher malnutrition risk than patients with a degree of slight physic disability, without that this difference were statistically significant. Patients with a degree of moderate-severe disability showed a lower assessment of quality of life than patients with a degree of slight disability. The dimensions on which there were observed statistically significant differences, were mobility (p=0.028), physic health (p=0.04), energy (p=0.019), health perception (p=0.026), quality of life as a whole (p=0.029) and physic dimension (p=0.026). Mental dimension was not seen so affected by the disability degree. Patients with a degree of moderate-severe disability showed a higher level of dependence than patients with a degree of slight disability, for executing daily life basic activities. With regard to Barthel index, the items more affected were: bathing, mobility, going up/down the stairs, and bladder control. With regard to Katz index, dependence level was higher in patients with a degree of moderate-severe disability, although without reaching the statistic significance. Patients with a degree of slight disability did not showed fall risk, however patients with a degree of moderate-severe disability had a high risk of falls. Conclusions: Nutritional characterization of ME patients is similar to both study groups. There exist imbalances in diet by an insufficient contribution of carbohydrates, zinc, iodine, folate and retinol. On the contrary, there exists a high consumption of proteins and fats. It is recommended to increase fruit consumption, vegetables, wholemeal cereals and to reduce butter consumption, pastries, sausages and other foods rich in saturated fats. Patients with a degree of moderate-severe disability show a worse mark on quality of life, a less capacity to carry out daily life basic activities and a higher risk of falls

Prevalencia, tratamiento y uso de la cistoscopia como prueba diagnóstica en pacientes con Esquistosomiasis urinaria

La Esquistosomiasis constituye la enfermedad parasitaria producida por helmintos de mayor importancia a nivel mundial. El diagnóstico se realiza con el hallazgode huevos del parásito, aunque en ocasiones, para alcanzar un diagnóstico definitivo, hay que recurrir a pruebas mínimamente invasivas como la cistoscopia. El tratamiento de elección es el praziquantel. El objetivo de este trabajo fue determinar y evaluarla prevalencia de Esquistosomiasis vesical, su tratamiento y la realización de pruebas diagnósticas en pacientes con Esquistosomiasis genitourinaria. Para ello se realizó un estudio retrospectivo de 4 años de duración en un hospital comarcal. Variables recogidas: demográficas, parasitación concomitante, patologías asociadas, otros síntomas (hematuria, eosinofilia), confirmación diagnóstica, biopsia vesical, exploraciones complementarias (ecografía, radiología, cistoscopia flexible), tratamiento y necesidadde re-tratamiento. Se trataron a 247 pacientes con Esquistosomiasis genitourinaria. Se realizó cistoscopia a 44 pacientes, presentando 28 de ellos hallazgos significativos compatibles con Esquistosomiasis. Todos los pacientes recibieron tratamiento con praziquantel, de los cuales 22 fueron retratados. La elevada prevalencia de Esquistosomiasis entre la población inmigrante exige una alto nivel de sospecha clínica en estos pacientes, sobre todo cuando presentan hematuria. La cistoscopia flexible permite obtener confirmación diagnóstica de la enfermedad. El tratamiento con praziquantel presenta buena tolerancia y elevada tasa de curación

Mapping the human genetic architecture of COVID-19

The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease

Mapping the human genetic architecture of COVID-19

The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3,4,5,6,7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease