RESUMEN
Interstitial deletions of the long arm of chromosome 9 are rare and most patients have been detected by conventional cytogenetic techniques. Disparities in size and localization are large and no consistent region of overlap has been delineated. We report two similar de novo deletions of 6.3 Mb involving the 9q31.1q31.3 region, identified in two monozygotic twins and one unrelated patient through array-CGH analysis. By cloning the deletion breakpoints, we could show that these deletions are not mediated by segmental duplications. The patients displayed a distinct clinical phenotype characterized by mild intellectual disability, short stature with high body mass index, thick hair, arched eyebrows, flat profile with broad chin and mild prognathism, broad, and slightly overhanging tip of the nose, short neck with cervical gibbus. The twin patients developed a metabolic syndrome (type 2 diabetes, hypercholesterolemia, vascular hypertension) during the third decade of life. Although long-term follow-up and collection of additional patients will be needed to obtain a better definition of the phenotype, our findings characterize a previously undescribed syndromic disorder associated with haploinsufficiency of the chromosome 9q31.1q31.3 region.
Asunto(s)
Deleción Cromosómica , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 9 , Fenotipo , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Adulto , Secuencia de Bases , Puntos de Rotura del Cromosoma , Hibridación Genómica Comparativa , Diagnóstico Diferencial , Facies , Femenino , Humanos , Proteínas de la Membrana/genética , Repeticiones de Microsatélite , Análisis de Secuencia de ADN , Síndrome , Gemelos Monocigóticos , Adulto JovenRESUMEN
BACKGROUND: Echocardiography is a valuable technique to assess cardiac output (CO) in trauma patients, but it does not allow a continuous bedside monitoring. Beat-to-beat CO assessment can be obtained by other techniques, including the pulse contour method MostCare. The aim of our study was to compare CO obtained with MostCare (MC-CO) with CO estimated by transthoracic echocardiography (TTE-CO) in trauma patients. METHODS: Forty-nine patients with blunt trauma admitted to an intensive care unit and requiring hemodynamic optimization within 24 hours from admission were studied. TTE-CO and MC-CO were estimated simultaneously at baseline, after a fluid challenge and after the start of vasoactive drug therapy. RESULTS: One hundred sixteen paired CO values were obtained. TTE-CO values ranged from 2.9 to 7.6 L·min(-1), and MC-CO ranged from 2.8 to 8.2 L·min(-1). The correlation between the two methods was 0.94 (95% confidence interval [CI]=0.89 to 0.97; P<0.001). The mean bias was -0.06 L·min(-1) with limits of agreements (LoA) of -0.94 to 0.82 L·min(-1) (lower 95% CI, -1.16 to -0.72; upper 95% CI, 0.60 to 1.04) and a percentage error of 18%. Changes in CO showed a correlation of 0.91 (95% CI=0.87 to 0.95; P<0.001), a mean bias of -0.01 L·min(-1) with LoA of -0.67 to 0.65 L·min(-1) (lower 95% CI, -0.83 to -0.51; upper 95% CI, 0.48 to 0.81). CONCLUSION: CO measured by MostCare showed good agreement with CO obtained by transthoracic echocardiography. Pulse contour analysis can complement echocardiography in evaluating hemodynamics in trauma patients.
Asunto(s)
Gasto Cardíaco/fisiología , Ecocardiografía/métodos , Monitoreo Fisiológico/métodos , Pulso Arterial/métodos , Heridas y Lesiones/fisiopatología , Adulto , Anciano , Interpretación Estadística de Datos , Femenino , Hemodinámica/fisiología , Humanos , Unidades de Cuidados Intensivos , Masculino , Persona de Mediana Edad , Análisis de Ondículas , Heridas y Lesiones/diagnóstico por imagen , Adulto JovenRESUMEN
The chemical investigation of the essential oils from the aerial organs of Bellis perennis L., the common daisy, showed that polyacetylenes were one of the dominant class of compounds. The major constituents, methyl deca-4,6-diynoate and deca-4,6-diynoic acid, and their structural analogues, deca-4,6-diyne, dimethyl octa-3,5-diyne-1,8-dioate and deca-4,6-diyne-1,10-dioic acid, were synthesised and their antimicrobial activity evaluated. Only deca-4,6-diynoic acid and deca-4,6-diyne-1,10-dioic acid showed antimicrobial activity, being the two compounds mainly effective against Gram-positive and Gram-negative bacteria, respectively. Structure-activity relationships of the tested polyacetylenes are discussed.