ABSTRACT
BACKGROUND: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome. CASE PRESENTATION: Two siblings presented with isolated skeletal manifestations of MFS, including severe pectus excavatum, elongated face, scoliosis in one case, and absence of other clinical features according to Ghent criteria diagnosis, were screened for detection of variants in whole FBN1 gene (65 exons). Both individuals were heterozygous for the R2726W variant. This variant has been previously reported in association with some skeletal features of Marfan syndrome in the absence of both tall stature and non-skeletal features. These features are consistent with the presentation of the siblings reported here. CONCLUSION: The presented cases confirm that the R2726W FBN1 variant is associated with skeletal features of MFS in the absence of cardiac or ocular findings. These findings confirm that FBN1 variants are associated with a broad phenotypic spectrum and the value of sequencing in atypical cases.
Subject(s)
Genetic Variation/genetics , Heterozygote , Marfan Syndrome/diagnosis , Marfan Syndrome/genetics , Microfilament Proteins/genetics , Siblings , Adolescent , Bone Diseases, Developmental/diagnosis , Bone Diseases, Developmental/genetics , Female , Fibrillin-1 , Fibrillins , Humans , Male , PedigreeABSTRACT
OBJECTIVE: To determine the main factors for perioperative mediastinal bleeding during coronary artery by-pass grafting and to establish the role of acetylsalicylic acid, other inhibitors of platelet adhesion, and anticoagulants in its occurrence. METHODS: A multivariate analysis was performed to the data obtained from 251 patients subjected to coronary artery by-pass grafting in the year 2002. RESULTS: There were no significant differences for the occurrence of perioperative bleeding induced by the preoperative administration of acetylsalicylic acid. No significant increment in the need for blood, platelet, or cryoprecipitates transfusion existed. Patients receiving non-fractionated or low molecular weight heparin had a significantly greater (p < 0.001) transoperative bleeding than patients without this drug. Administration of the other studied drugs did not increase either mediastinal bleeding or the need for blood derivatives. CONCLUSIONS: No statistical evidence was found to suspend administration of inhibitors of platelet adhesion in patients with coronary syndromes, subjected to coronary artery by-pass grafting. However, data obtained suggest the convenience of suspending administration of low molecular weight or non-fractionated heparin to patients subjected electively to coronary artery by-pass grafting.
Subject(s)
Anticoagulants/administration & dosage , Aspirin/administration & dosage , Coronary Artery Bypass , Heparin, Low-Molecular-Weight/administration & dosage , Mediastinal Diseases/etiology , Platelet Aggregation Inhibitors/administration & dosage , Postoperative Hemorrhage/etiology , Adolescent , Adult , Aged , Aged, 80 and over , Anticoagulants/adverse effects , Aspirin/adverse effects , Blood Component Transfusion/statistics & numerical data , Case-Control Studies , Cross-Sectional Studies , Female , Heparin, Low-Molecular-Weight/adverse effects , Humans , Male , Mediastinal Diseases/epidemiology , Mediastinal Diseases/therapy , Mediastinum/pathology , Middle Aged , Platelet Aggregation Inhibitors/adverse effects , Postoperative Hemorrhage/epidemiology , Postoperative Hemorrhage/therapy , Retrospective Studies , Risk FactorsABSTRACT
Propósito del trabajo: Determinar los factores predisponentes para sangrados perioperatorios en cirugía de revascularización miocárdica y establecer el papel de ácido acetilsalicílico, otros antiagregantes plaquetarios, y anticoagulantes, en la ocurrencia de estos sangrados. Método: Se realizó un análisis multivariado de 251 pacientes sometidos a cirugía de revascularización miocárdica en el año 2002. Resultados: En la administración prequirúrgica de ácido acetilsalicílico no se encontró diferencia significativa para la ocurrencia de sangrado perioperatorio importante. No existió incremento significativo en la transfusión de unidades de paquetes globulares, plaquetas, crioprecipitados. Los pacientes con administración de heparina no fraccionada y de bajo peso molecular, tuvieron un sangrado transoperatorio significativamente mayor (p < 0.001) que los pacientes sin este fármaco. El empleo del resto de los fármacos estudiados, no incrementó la cantidad de sangrado ni la administración de hemoderivados. Conclusiones: No existe evidencia estadística que justifique suspender la administración de antiagregantes plaquetarios en los pacientes con síndromes coronarios urgentes o electivos, a quienes se les someta a cirugía de revascularización miocárdica. Sin embargo, resultaría conveniente suspender la administración de heparina no fraccionada y de bajo peso molecular, a pacientes sometidos a cirugía de revascularización miocárdica en forma electiva.
Objective: To determine the main factors for perioperative mediastinal bleeding during coronary artery by-pass grafting and to establish the role of acetylsalicylic acid, other inhibitors of platelet adhesion, and anticoagulants in its occurrence. Methods: A multivariate analysis was performed to the data obtained from 251 patients subjected to coronary artery by-pass grafting in the year 2002. Results: There were no significant differences for the occurrence of perioperative bleeding induced by the preoperative administration of acetylsalicylic acid. No significant increment in the need for blood, platelet, or cryoprecipitates transfusion existed. Patients receiving non-fractionated or low molecular weight heparin had a significantly greater (p < 0.001) transoperative bleeding than patients without this drug. Administration of the other studied drugs did not increase either mediastinal bleeding or the need for blood derivatives. Conclusions: No statistical evidence was found to suspend administration of inhibitors of platelet adhesion in patients with coronary syndromes, subjected to coronary artery by-pass grafting. However, data obtained suggest the convenience of suspending administration of low molecular weight or non-fractionated heparin to patients subjected electively to coronary artery by-pass grafting.
