RESUMEN
INTRODUCTION: Because of the increased complexity of the diagnostic-therapeutic approach to colorectal cancer (CRC), these patients should be managed in specialized multidisciplinary units. The aim of this study was to evaluate the efficacy and efficiency of a CRC unit (CRCU) in the diagnostic-therapeutic management of these patients. PATIENTS AND METHODS: Two groups of 50 patients with colon cancer treated in our center before and after the implementation of the CRCU were selected. Fulfillment with the protocol in terms of tumoral staging, surgical and adjuvant treatment, follow-up, interval until treatment, hospital stay, morbidity and early mortality, and the overall duration of the diagnostic-therapeutic process was analyzed. In addition, clinical workload was evaluated and a cost-minimization analysis was performed. RESULTS: The CRCU reduced the interval until surgery (20.3 12.0 vs 28.0 20.4 days; p = 0.05), hospital stay (9.8 7.7 vs 14.5 9.3 days: p = 0.01), the time to the start of adjuvant treatment (29.4 10.2 vs 39.7 19.8 days; p = 0.03) and the overall duration of the process (60.4 23,8 vs 82.1 46.1 days; p = 0.05), representing a saving of 978.85 E per patient. This improvement took place despite an increase in clinical workload (24% in 5 years in relation to the number of admissions) and had no effect on morbidity (26 vs 24%; NS) or immediate mortality (6 vs 4%; NS). CONCLUSION: Specialized multidisciplinary units increase the efficacy and efficiency of the management of patients with CRC.
Asunto(s)
Neoplasias Colorrectales/terapia , Prestación Integrada de Atención de Salud , Evaluación de Programas y Proyectos de Salud , Anciano , Neoplasias Colorrectales/economía , Eficiencia Organizacional , Femenino , Costos de Hospital , Unidades Hospitalarias/economía , Humanos , Relaciones Interprofesionales , Tiempo de Internación/economía , Masculino , Resultado del TratamientoRESUMEN
The Drosophila gene sine oculis (so), a nuclear homeoprotein that is required for eye development, has several homologues in vertebrates (the SIX gene family). Among them, SIX3 is considered to be the functional orthologue of so because it is strongly expressed in the developing eye. However, embryonic SIX3 expression is not limited to the eye field, and SIX3 has been found to be mutated in some patients with holoprosencephaly type 2 (HPE2), suggesting that SIX3 has wide implications in head development. We report here the cloning and characterization of SIX6, a novel human SIX gene that is the homologue of the chick Six6(Optx2) gene. SIX6 is closely related to SIX3 and is expressed in the developing and adult human retina. Data from chick and mouse suggest that the human SIX6 gene is also expressed in the hypothalamic and the pituitary regions. SIX6 spans 2567 bp of genomic DNA and is split in two exons that are transcribed into a 1393-nucleotide-long mRNA. Chromosomal mapping of SIX6 revealed that it is closely linked to SIX1 and SIX4 in human chromosome 14q22.3-q23, which provides clues about the origin and evolution of the vertebrate SIX family. Recently three independent reports have associated interstitial deletions at 14q22.3-q23 with bilateral anophthalmia and pituitary anomalies. Genomic analyses of one of these cases demonstrated SIX6 hemizygosity, strongly suggesting that SIX6 haploinsufficiency is responsible for these developmental disorders.
Asunto(s)
Anoftalmos/genética , Cromosomas Humanos Par 14 , Genes Homeobox , Proteínas de Homeodominio/genética , Familia de Multigenes , Proteínas del Tejido Nervioso/genética , Hipófisis/anomalías , Secuencia de Aminoácidos , Animales , Anoftalmos/embriología , Embrión de Pollo , Niño , Clonación Molecular , Evolución Molecular , Proteínas del Ojo , Femenino , Feto/anomalías , Humanos , Hipotálamo/metabolismo , Masculino , Datos de Secuencia Molecular , Hipófisis/metabolismo , Retina/metabolismo , Proteína Homeobox SIX3RESUMEN
A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.
Asunto(s)
Codón de Terminación/genética , Cisteína/genética , Sordera/genética , Miosinas/genética , Retinitis Pigmentosa/genética , ADN/análisis , ADN/química , ADN/genética , Análisis Mutacional de ADN , Sordera/congénito , Dineínas , Exones/genética , Femenino , Genes Recesivos/genética , Humanos , Masculino , Persona de Mediana Edad , Mutación , Miosina VIIa , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Retinitis Pigmentosa/congénito , SíndromeRESUMEN
The radiological appearance of intestinal tuberculosis (IT) in six patients with AIDS is presented. Involvement of the ileocecal segment (five cases), cecum (four cases), and duodenum (one case) was seen on computed tomographic (CT) or barium studies. There were no significant differences in radiological manifestations of IT among patients with or without AIDS, but all six patients had an advanced stage of their disease at the time of diagnosis.