RESUMEN
Introducción. Existen criterios velocimétricos aún no consensuados para el diagnóstico de la re-estenosis de alto grado tras stent carotídeo. Los cambios que se producen en la pared arterial dependen de las características y el diseño del stent, por lo que podrían ser importantes para establecerlos. El objetivo del estudio es comparar las velocidades en arterias carótidas tratadas con dos tipos distintos de stent. Pacientes y Métodos. Estudio prospectivo con inclusión sucesiva de pacientes tratados mediante stent carotídeo y divididos en dos grupos, unos con wallstent® (WS) y otro con Cristallo Ideale® (CRI). Se realizó eco-Doppler tras la intervención registrando las siguientes velocidades: velocidad sistólica pico o máxima (VSM) y velocidad telediastólica (VTD) a nivel de carótida común (CC) a 1 cm proximal del stent, en 3 segmentos del stent y a nivel de la carótida interna distal. En todos los casos se revisó la arteriografía final intraoperatoria para verificar el resultado morfológico. Para la valoración estadística se utilizó el t-test de Welch. Resultados. Fueron incluídos en el grupo de WS 37 pacientes y en el otro 9. La media de VSM en CI fue de 138 vs 120 cm/s (p=0.2), respectivamente, y la de ratio CI/CC 1.68 vs 1.63 (0.6). Se registraron velocidades mayores de 150 cm/s en CI en 11 casos tratados con WS, y en uno con CRI. Conclusiones. Existen pequeñas diferencias, no estadísticamente significativas, en las velocidades de las arterias carótidas tratadas con WS frente a las tratadas con CRI (AU)
Introduction. There are Doppler US criteria for diagnosis of high-grade restenosis after carotid stenting, although there is no consensus. Changes produced on arterial wall depends on characteristics and design of stent, so it may be necessary to consider them for establish those criteria. The aim of the study is to compare velocities in carotid arteries treated by two different types of stent. Patients and Methods. It is a prospective study and patients were included consecutively from October 2008 to May 2012. Includes two groups of patients treated by carotid stenting: one with Wallstent® (WS) and another one with Cristallo Ideale® (CRI). Doppler US was performed after intervention recording the following velocities: peak systolic velocity (PSV) and end diastolic velocity (EDV) at common carotid artery (CCA) 1 cm proximal to stent, 3 portions of stent and at distal internal carotid artery (ICA). Final intraoperative angiography was revised in all cases to verify morphological result. For statistical evaluation we used Welch t-test. Results. 37 patiens were included in the WS group and 9 in the other one. ICA VSM mean was 138 vs 120 cm/s (p =0,2) and ICA/ICC ratio was 1.68 vs. 1.63 (p=0,6), respectively. Doppler US velocities over 150 cm/s were obtained in 11 cases treated with WS and in one with CRl. Conclusions. Small differences exist, not statistically significant, in Doppler velocities of carotid arteries treated with WS compared to those treated with CRI (AU)
Asunto(s)
Humanos , Estenosis Carotídea/cirugía , Oclusión de Injerto Vascular/epidemiología , Stents , Hemodinámica/fisiología , Ecocardiografía Doppler/métodosRESUMEN
La oclusión del bypass infrainguinal puede ocurrir en el periodo postoperatorio inmediato (oclusiones agudas) o años después (oclusiones tardías). La prevención de la oclusión incluye una correcta decisión de intervenir y una adecuada elección del flujo de entrada y salida, lugares de anastomosis proximal y distal y del conducto empleado. Además se encuentran la confirmación intraoperatoria del éxito técnico, la antiagregación postoperatoria, el seguimiento con dúplex, y el cese del hábito tabáquico o el control estricto de los niveles glucémicos. Las oclusiones agudas deben ser tratadas inmediatamente con una esperanza razonable de restaurar la permeabilidad. El pronóstico de los pacientes con oclusiones tardías es pobre, sin embargo, la reoperación electiva con un nuevo bypass de vena autóloga consigue unos porcentajes favorables de salvamiento de extremidad en pacientes con síntomas isquémicos. El propósito de nuestra revisión es aportar un acercamiento a la oclusión del bypass infrainguinal que logre una máxima permeabilidad a largo plazo, salvamiento de extremidad y supervivencia del paciente (AU)
Infrainguinal graft occlusions may occur in the immediate postoperative period (acute occlusions) or years later (late occlusions). Prevention of postoperative graft occlusions includes a correct decision to operate and adequacy inflow and outflow vessels, proximal and distal anastomoses, and conduit. Intraoperative confirmation of technical success, postoperative antiplatelet therapy, follow-up with duplex scanning and smoking cessation or close perioperative glycaemic control, were included in this composite endpoint. Acute occlusions should be treated immediately with a reasonable expectation that patency can be restore. The overall prognosis for patients with late failed infrainguinal grafts is poor however elective reoperation with a new autogenous vein graft achieves favourable limb salvage rates in patients with ischemic symptoms. Aim of our review is provided an approach to graft infrainguinal occlusions that results in maximal long-term graft patency, limb salvage and patient survival (AU)
Asunto(s)
Humanos , Oclusión de Injerto Vascular/fisiopatología , Anastomosis Quirúrgica/efectos adversos , Ingle/irrigación sanguínea , Inhibidores de Agregación Plaquetaria/uso terapéutico , Anticoagulantes/uso terapéutico , Complicaciones de la Diabetes , Complicaciones Posoperatorias , Factores de Riesgo , Reoperación , Terapia TrombolíticaRESUMEN
In Macaca mulatta, the single rDNA array is flanked by a patchwork of sequences including subregions of human Yp11.2, 4q35.2, and 10p15.3. This composite DNA region is characterized by unique or low-copy sequences, resembling a potentially transcribed region. The analysis of Cercopithecus aethiops, Presbytis cristata, and Hylobates lar suggests that this complex sequence organization could be shared by Old World monkey and lesser ape species. After the lesser apes/great apes divergence, the unique or nonduplicated DNA region underwent amplification and spreading, preferentially marking the p arm of acrocentric chromosomes bearing the rDNA. The molecular analysis of human acrocentric chromosomes revealed some extent of remodeling of the rDNA boundary: near the human NOR, a large 4q35.2 duplication partially resembles that found in MMU; conversely, infrequently represented Yp11.2 sequences totally differed from those of the macaque, and 10p15.3 sequences were lacking. Thus, although evolutionary events modified the sequence organization of the MMU rDNA boundary, its overall sequence feature and the preferential location in vicinity to the NOR have been conserved.
Asunto(s)
ADN Ribosómico/genética , Evolución Molecular , Macaca mulatta/genética , Animales , Cromosomas Artificiales Bacterianos/genética , Cromosomas Humanos Par 10/genética , Cromosomas Humanos Par 4/genética , Cromosomas Humanos Y/genética , Secuencia Conservada , Duplicación de Gen , Genómica , Humanos , Hibridación Fluorescente in Situ , Datos de Secuencia Molecular , Primates/genética , Especificidad de la EspecieRESUMEN
BACKGROUND: Studies attempting to precisely define the range of fragile mental retardation 1 (FMR1) expansions and its inf luence in premature ovarian failure (POF) manifestation are partially lacking. To this aim, we evaluated a large cohort of POF patients for the size and, in selected cases, for the sequence of the CGG expansion. Furthermore, the correlation between POF and X-inactivation was investigated in FRAXA families. METHODS: By fluorescent PCR, 190 POF and 200 control women were sized for the CGG tract; some subjects were also characterized by sequencing and for the FMR1 activation ratio. RESULTS AND CONCLUSION: We found a significant association (19/190, 10%, P < 1 x 10(-6)) between POF and FMR1 premutation (range 63-163 repeats) and a significant enrichment (9/190, 4.7%, P = 0.021) of POF carriers of intermediate expansions (range 41-58 repeats). Interestingly, intermediate alleles were entirely composed of CGG repeats. Furthermore, the analysis of three pairs of siblings with similar FMR1 expansions and discordant for the POF phenotype showed a direct correlation between the expression of the intermediate/premutated allele and POF manifestation. The results obtained strengthen the correlation between FMR1 expansion and POF and suggest that the manifestation of the ovarian dysfunction could be influenced both by the pattern of interruption of the CGG repeat and by X-inactivation.
Asunto(s)
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Insuficiencia Ovárica Primaria/genética , Expansión de Repetición de Trinucleótido/fisiología , Adulto , Alelos , Secuencia de Bases , Análisis Mutacional de ADN , Femenino , Humanos , Persona de Mediana Edad , Datos de Secuencia Molecular , Linaje , Inactivación del Cromosoma X/fisiologíaRESUMEN
Premature ovarian failure (POF) is a heterogeneous disorder whose aetiology is still unknown. Recently, the autosomal FOXL2 gene, highly expressed in the adult ovary, has been correlated with the disorder. FOXL2 mutations, causing a truncation of the FOXL2 protein in the forkhead domain or in the poly-Ala tract lead to blepharophimosis-ptosis-epicanthus-inversus syndrome associated with POF (BPES I). Interestingly, in two out of 70 idiopathic POF patients, a 30 bp deletion (898-927del) and a missense mutation (1009T-->A) were identified. To further evaluate the correlation between POF and FOXL2 mutations, 120 phenotypically normal women affected by POF were analysed by direct sequencing of the FOXL2 coding region. The analysis did not reveal any mutation in the 240 analysed chromosomes, indicating that mutations in the FOXL2 coding region are rarely associated with non-syndromic POF.