RESUMEN
Urinalysis is one of the habitual clinical laboratory procedures, which implies that one of the largest sample volumes currently requires significant labor to examine microscopic sediments. Different analyzers currently used to perform this task have been compared with the manual microscopic sediment examination. The Atlas Clinitek 10 (Bayer Corporation, Diagnostics Division, Tarrytown, NY) and Urisys 2400 (Hitachi Science Systems Ltd., Ibaraki, Japan) test strips analyzers and two automated urinalysis systems, Sysmex UF-100 (Sysmex Corporation Kobe, Japan) and IRIS iQ200 (International Imaging Remote Systems, Chatsworth, CA), have been considered. We assessed the concordance between the results obtained from 652 freshly collected urine samples for erythrocytes (RBC), leukocytes (WBC), squamous epithelial cells (EC), nitrites/bacteria, and crystals using the methodologies mentioned. A principal components analysis was performed in order to examine the correlation between these parameters. Instrument accuracy was also assessed. The Spearman's statistic (p) showed an adequate agreement between methods for RBC (iQ200=0.473; UF-100=0.439; Atlas=0.525; Urisys=0.539), WBC (iQ200=0.695; UF-100=0.761; Atlas=0.684: Urisys=0.620), and bacteria/nitrites (iQ200=0.538; UF-100=0.647; Atlas=0.532; Urisys=0.561) counts. By applying the Wilcoxon and McNemar tests, a concordance degree was found between 82-99 and 52-95% for the values obtained from the two test strips analyzers considered and from the iQ200 and UF-100 systems, respectively. From these results, we can conclude that both test strips analyzers are similar and, on the other hand, that automated urinalysis is needed to improve precision and the response time; but sometimes manual microscopic revisions are required, mainly when flags, because of crystals, are detected.
Asunto(s)
Citometría de Flujo/métodos , Microscopía/métodos , Tiras Reactivas , Urinálisis/métodos , Orina/química , Autoanálisis , Citometría de Flujo/instrumentación , Humanos , Microscopía/instrumentación , Reproducibilidad de los Resultados , Urinálisis/instrumentaciónRESUMEN
En un contexto de gestión de procesos cínico-asistenciales que apuesta claramente por el control de gasto sanitario, la implementación de un modelo que potencie la centralidad del paciente se antoja como modelo óptimo. Así, el modelo
Within a context of clinical-nursing process management which clearly emphasisses the control of health expenditure, the implementation of a model which gives prominence to the centrality of the patient seems to be the optimum model. Thus, the admission-hospitalization model is complemented with new forms of management which, as this work proposes, do not entail changes in quality, but rather progressive improvements and an optimization of the Service (AU)
Asunto(s)
Humanos , Traumatología/organización & administración , Ortopedia/organización & administración , Calidad de la Atención de Salud , Optimización de Procesos , Gastos en SaludRESUMEN
Rett syndrome (RTT) is an X-linked neurodevelopmental disease that affects girls almost exclusively. In a high proportion of patients the disease is caused by de novo mutations at the MECP2 gene, encoding methyl-CpG-binding protein 2. With the aim to characterize the spectrum of mutations in a series of sporadic RTT patients, including an affected male, and to relate the genetic results to the clinical features of the disease, a clinical checklist and a score system were elaborated to evaluate the clinical severity of the disease. Mutation analysis of the MECP2 coding region was done by direct sequencing. De novo mutations were found in 60% of the patients, including both classic and atypical forms. The change R133H was identified in a 13-year-old boy showing a classic RTT phenotype and normal karyotype. Significant differences were observed among missense and truncating mutations regarding disease severity, age of onset of stereotypies, and the ability of the patients to sit alone and to walk.
Asunto(s)
Proteínas Cromosómicas no Histona , Análisis Mutacional de ADN , Proteínas de Unión al ADN/genética , Mutación/genética , Síndrome de Rett/genética , Síndrome de Rett/fisiopatología , Adolescente , Niño , Preescolar , Femenino , Trastornos Neurológicos de la Marcha/genética , Trastornos Neurológicos de la Marcha/fisiopatología , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Proteína 2 de Unión a Metil-CpG , Mutación Missense/genética , Fenotipo , Estructura Terciaria de Proteína/genética , Proteínas Represoras/genética , Factores Sexuales , España , Trastornos del Habla/genética , Trastornos del Habla/fisiopatología , Trastorno de Movimiento Estereotipado/genética , Trastorno de Movimiento Estereotipado/fisiopatologíaRESUMEN
Some patients present prolonged apnea following the administration of succinylcholine because of substantial portion of plasma cholinesterase (the enzyme responsible for the hydrolysis of this muscle relaxant) is present as an atypical variant. Up to the present four types of cholinesterase genes are known which combination can cause apnea to a greater or less extent. Silent homozygous EsEs present apnea of greatest duration due to the complete absence of cholinesterase activity. The case reported belongs to a family of four members and is an example of this extremely uncommon genetic variant, with a frequency of 1/170.000. To determine total cholinesterase activity genetic typing of the whole family was carried out utilizing the spectrophotometric technique of Szasz and Knedel with butirylthiocholine iodide as substrate. Inhibition studies were performed using benzoylcholine and dibucaine, sodium fluoride, scholine, and sodium chloride as inhibitors.