RESUMO
INTRODUCTION: Currently there is no system of classification validated and commonly used to allow staging the severity of amyotrophic lateral sclerosis. PATIENTS AND METHODS: Based on the ALSFRS-R, four domains were established (bulbar, manual skills, gross motor function and respiratory function). Each item had a 0 score if the rate was >= 3 (independence) or 1 if the rate was < 3 (dependence). The functional classification scale was defined as follows: stage 1, without a loss of independence on any domain, until stage 5, with loss of independence in all four domains. This classification is correlated with the need of external support, quality of life with the application of the ALSAQ-40 scale, muscle strength and survival. RESULTS: From a total of 244 patients, 14.3% were in stage 1, 23.8% in stage 2, 21.3% in stage 3, 19.3% in stage 4 and 21.3% in stage 5. Muscle strength and quality of life were inversely proportional to the stage of the disease, while the need for external aids is directly related to the increase in disease stages 1 to 5 (p < 0.012). Increased survival of patients was found in stages 1 and 2 with respect to those in stages 3, 4 and 5 (p = 0.004). CONCLUSION: The proposed classification system is easy to apply and correlates well with the patient's clinical, quality of life, resource requirements and survival.
TITLE: Diseño y validacion de un sistema de clasificacion para evaluar el grado de discapacidad de los pacientes con esclerosis lateral amiotrofica.Introduccion. Actualmente no existe un sistema de clasificacion validado y de uso comun para estadificar la gravedad de la esclerosis lateral amiotrofica. Pacientes y metodos. Basados en la escala de valoracion funcional para la esclerosis lateral amiotrofica revisada, se establecieron cuatro dominios (bulbar, destrezas manuales, funcion motora gruesa y funcion respiratoria). A cada item se le asigno una puntuacion de 0 si su calificacion era igual o mayor de 3 (independencia), o 1 si su calificacion era menor de 3 (dependencia). La escala de clasificacion funcional se definio desde el estadio 1 (sin perdida de independencia en ningun dominio) hasta el estadio 5 (perdida de independencia en los cuatro dominios). Esta clasificacion se correlaciono con la necesidad de ayudas externas, la calidad de vida aplicando la escala del cuestionario de evaluacion de la esclerosis lateral amiotrofica-40, la fuerza muscular y la sobrevida. Resultados. De un total de 244 pacientes, el 14,3% se encontraba en estadio 1; el 23,8%, en estadio 2; el 21,3%, en estadio 3; el 19,3%, en estadio 4; y el 21,3%, en estadio 5. Fuerza muscular y calidad de vida fueron inversamente proporcionales a la etapa de la enfermedad. La necesidad de ayudas externas se relaciona directamente con el aumento de los estadios de la enfermedad de 1 a 5 (p < 0,012). Se encontro una mayor sobrevida de los pacientes en los estadios 1 y 2 con respecto a los estadios 3, 4 y 5 (p = 0,004). Conclusion. El sistema de clasificacion propuesto es de facil aplicacion y se correlaciona bien con la clinica del paciente, su calidad de vida, el requerimiento de recursos y la sobrevida.
Assuntos
Esclerose Lateral Amiotrófica/fisiopatologia , Avaliação da Deficiência , Índice de Gravidade de Doença , Atividades Cotidianas , Esclerose Lateral Amiotrófica/psicologia , Progressão da Doença , Feminino , Humanos , Estimativa de Kaplan-Meier , Expectativa de Vida , Masculino , Pessoa de Meia-Idade , Limitação da Mobilidade , Força Muscular , Qualidade de Vida , Testes de Função Respiratória , Inquéritos e QuestionáriosRESUMO
Copy number variations (CNVs) are an important source of genomic structural variation, and can be used as markers to investigate phenotypic and economic traits. CNVs also have functional effects on gene expression and can contribute to disease susceptibility in mammals. Currently, single nucleotide polymorphism genotyping arrays (SNP chips) are the technology of choice for identifying CNV variations. Microarray technologies have recently been used to study the bovine genome. The objective of the present study was to develop CNVs in Holstein cows from the Northwest of Mexico using the Affymetrix Axiom Genome-Wide BOS 1 Array, which assays 648,315 SNPs and provides a wide coverage for genome-wide studies. We applied the two most widely used algorithms for the discovery of CNVs (PennCNV and QuantiSNP) and found 56 CNV regions (CNVRs) representing 0.33% of the bovine genome (8.46 Mb). These CNVRs ranged from 1.5 to 970.8 kb with an average length of 151 kb. They involved 103 genes and showed a 28% overlap with CNVRs already reported. Of the 56 CNVRs found, 20 were novel. In this study we present the first genomic analysis of CNVs in Mexican cattle using high-density SNP data. Our results provide a new reference basis for future genomic variation and association studies between CNVs and phenotypes, especially in Mexican cattle.
Assuntos
Algoritmos , Variações do Número de Cópias de DNA , Genoma , Polimorfismo de Nucleotídeo Único , Característica Quantitativa Herdável , Animais , Bovinos , Indústria de Laticínios , Feminino , Genótipo , Técnicas de Genotipagem , Humanos , México , Análise de Sequência com Séries de Oligonucleotídeos , FenótipoRESUMO
The general use of refrigeration of raw milk has contributed to maintenance of its quality, but has induced the selection of a psychotrophic bacteria which during its growth produces heat-resistant enzymes responsible, in part, for the deterioration of long-life products. Given the condition of the prolonged refrigeration of the milk before the process, it was necessary to determine the growth curves for bacteria at temperatures between 2 degrees C and 10 degrees C and the kinetics of production of proteases in raw fresh milk, inoculated with Pseudomonas fluorescens RV1O, using an automatic fermentation system, with minimal agitation under conditions of controlled temperature and pH. The results show a development over 10(5) ufc/mL in the cultures at 6 degrees, 8 degrees and 10 degrees C during the first 30 h and proteasic activities over 30 microM p-NA/2 h getting levels of de 80-180 microM p-NA/2 h over 50 h of cultivation. Only the cultures at 2 degrees C appeared stable with inferior cell counts and without inducing enzymatic activity. At 4 degrees C an intermediate situation occurs.
Assuntos
Animais , Bovinos , Feminino , Conservação de Alimentos/métodos , Endopeptidases , Leite , Pseudomonas fluorescens , Temperatura Baixa , Meios de Cultura , Microbiologia de Alimentos , Cinética , Leite , Pseudomonas fluorescens , RefrigeraçãoRESUMO
The general use of refrigeration of raw milk has contributed to maintenance of its quality, but has induced the selection of a psychotrophic bacteria which during its growth produces heat-resistant enzymes responsible, in part, for the deterioration of long-life products. Given the condition of the prolonged refrigeration of the milk before the process, it was necessary to determine the growth curves for bacteria at temperatures between 2 degrees C and 10 degrees C and the kinetics of production of proteases in raw fresh milk, inoculated with Pseudomonas fluorescens RV1O, using an automatic fermentation system, with minimal agitation under conditions of controlled temperature and pH. The results show a development over 10(5) ufc/mL in the cultures at 6 degrees, 8 degrees and 10 degrees C during the first 30 h and proteasic activities over 30 microM p-NA/2 h getting levels of de 80-180 microM p-NA/2 h over 50 h of cultivation. Only the cultures at 2 degrees C appeared stable with inferior cell counts and without inducing enzymatic activity. At 4 degrees C an intermediate situation occurs.
Assuntos
Endopeptidases/biossíntese , Conservação de Alimentos/métodos , Leite/microbiologia , Pseudomonas fluorescens/crescimento & desenvolvimento , Animais , Bovinos , Temperatura Baixa , Meios de Cultura , Feminino , Microbiologia de Alimentos , Cinética , Leite/química , Pseudomonas fluorescens/enzimologia , RefrigeraçãoRESUMO
Se hace una revision del tema de la endocarditis infecciosa de válvula nativa, en la cual se incluye la definicion aceptada hoy en dia, los aspectos etiologicos y el daño mismo desde el punto de vista patologico, asi como las implicaciones funcionales a que puede dar lugar la presencia de esta entidad. Se analizan los factores predisponentes y las causas etiologicas asi como tambien la microbiolologia concomitante y se dan pautas tanto para la prevencion como para el tratamiento.