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AIM: This paper aims to report on two modifications made to improve the measurement precision of the Ms. Olsen test. Specifically, three items were added to the Ms. Olsen test and an extended scoring was applied to some items. DESIGN: The competence assessment had a quantitative cross-sectional design comprising of test results from 111 Registered Nurses in four municipalities in South-Eastern Norway. METHODS: The Rasch model was applied to evaluate the measurement properties in four versions: the Ms. Olsen test with 19 items and the same with three added items, and the Ms. Olsen test with 19 items with an expanded scoring for the original and expanded version, respectively. RESULTS: The person separation indexes were improved from 0.50 to 0.62. Other measurement properties were not alternating between the four versions; all had shortcomings in terms of targeting (person measure means 3.02-3.87) and unidimensionality (% t-test >5% 9.01%-13.51%). CONCLUSION: The clinical relevance and relatively short time spent on testing makes the Ms. Olsen test a reasonable choice and a step in the right direction for assessing competence as a means of targeting continuous professional development of nurses throughout their career. Nevertheless, depending on what kind of decisions are to be made, reliability might still be too low and further development is suggested. PUBLIC CONTRIBUTION: The initiative for the competence assessment came from nursing leaders in the four municipalities involved. The municipalities were represented in all stages of the research process through co-author LS, that is, design, data collection, data analysis, writing of the manuscript as well as dissemination of the results to the four municipalities. IMPLICATIONS FOR PRACTICE: The Ms. Olsen test exemplifies a move towards objective assessments in nursing. Precise and reliable measurements are essential to support the ongoing professional development of nurses.
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Competencia Clínica , Humanos , Competencia Clínica/normas , Estudios Transversales , Noruega , Reproducibilidad de los Resultados , Femenino , Adulto , Encuestas y Cuestionarios , Masculino , Evaluación Educacional/métodos , Evaluación Educacional/normas , Psicometría , Persona de Mediana EdadRESUMEN
OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.
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Síndromes Epilépticos/genética , Sintaxina 1/genética , Adolescente , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Discapacidades del Desarrollo , Epilepsia Refractaria/genética , Electroencefalografía , Epilepsias Parciales/genética , Epilepsias Parciales/fisiopatología , Síndromes Epilépticos/tratamiento farmacológico , Síndromes Epilépticos/fisiopatología , Síndromes Epilépticos/psicología , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Recién Nacido , Discapacidades para el Aprendizaje , Mutación con Pérdida de Función , Masculino , Mutación Missense , Fenotipo , Convulsiones Febriles , Análisis de Secuencia de ADN , Adulto JovenRESUMEN
OBJECTIVE: The aim of this pilot study was to compare spirometric values obtained with different types of spirometers, spirometers of same type, and repeated measurements with the same spirometer in a pulmonary function laboratory setting. RESULTS: 12 healthy volunteers performed spirometry on four hot-wire (SensorMedics), two ultrasonic (Spirare) and one wedge-bellows (Vitalograph S) spirometers, according to ATS/ERS (American Thoracic Society/European Respiratory Society) guidelines. Spirometric values were compared using linear mixed models analysis with a random intercept for subjects and a fixed effect for type of spirometer used. Confidence intervals and p values were adjusted for multiple comparisons. Mean ± SD (L) values for hot-wire, ultrasonic and wedge-bellows spirometers for FVC (forced vital capacity) were 4.02 ± 0.66, 3.69 ± 0.61 and 3.93 ± 0.69, and for FEV1 (forced expiratory volume in one second) 3.06 ± 0.44, 2.95 ± 0.44 and 3.10 ± 0.49. Significant differences were found between hot-wire and ultrasonic and between wedge-bellows and ultrasonic spirometers for FVC and FEV1, and between hot-wire and wedge-bellows spirometers for FVC but not for FEV1. There were no significant differences between spirometers of same type, and low mean differences in repeated measurements for all spirometers included. In conclusion, the pilot study shows systematically higher values for FVC and FEV1 for hot-wire and wedge-bellows compared to ultrasonic spirometers.
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Espirometría/instrumentación , Espirometría/normas , Adulto , Voluntarios Sanos , Humanos , Proyectos PilotoRESUMEN
In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing. The patients had a range of different epilepsies from benign neonatal seizures to epileptic encephalopathies (EEs). Potentially causative variants were evaluated by literature and database searches, submitted to bioinformatic prediction algorithms, and validated by Sanger sequencing. If possible, parents were included for segregation analysis. We identified a presumed disease-causing variant in 49 (23%) of the 216 patients. The variants were found in 19 different genes including SCN1A, STXBP1, CDKL5, SCN2A, SCN8A, GABRA1, KCNA2, and STX1B. Patients with neonatal-onset epilepsies had the highest rate of positive findings (57%). The overall yield for patients with EEs was 32%, compared to 17% among patients with generalized epilepsies and 16% in patients with focal or multifocal epilepsies. By the use of a gene panel consisting of 46 epilepsy genes, we were able to find a disease-causing genetic variation in 23% of the analyzed patients. The highest yield was found among patients with neonatal-onset epilepsies and EEs.