In this series of patients, the mixed TAPVC could be corrected only with preoperative two-dimensional Doppler echocardiography with good immediate results, and we believe that the use of computed angiotomography combined with three-dimensional reconstruction may improve the surgical outcome mainly in the mixed and infracardiac group of TAPVC.
Trisomy 21-driven transcriptional alterations in human thymus were characterized through gene coexpression network (GCN) and miRNA-target analyses. We used whole thymic tissue - obtained at heart surgery from Down syndrome (DS) and karyotipically normal subjects (CT) - and a network-based approach for GCN analysis that allows the identification of modular transcriptional repertoires (communities) and the interactions between all the system's constituents through community detection. Changes in the degree of connections observed for hierarchically important hubs/genes in CT and DS networks corresponded to community changes. Distinct communities of highly interconnected genes were topologically identified in these networks. The role of miRNAs in modulating the expression of highly connected genes in CT and DS was revealed through miRNA-target analysis. Trisomy 21 gene dysregulation in thymus may be depicted as the breakdown and altered reorganization of transcriptional modules. Leading networks acting in normal or disease states were identified. CT networks would depict the “canonical” way of thymus functioning. Conversely, DS networks represent a “non-canonical” way, i.e., thymic tissue adaptation under trisomy 21 genomic dysregulation. This adaptation is probably driven by epigenetic mechanisms acting at chromatin level and through the miRNA control of transcriptional programs involving the networks' high-hierarchy genes.
AIRE expression in thymus is downregulated by estrogen after puberty, what probably renders women more susceptible to autoimmune disorders. Here we investigated the effects of minipuberty on male and female infant human thymic tissue in order to verify if this initial transient increase in sex hormones - along the first six months of life - could affect thymic transcriptional network regulation and AIRE expression. Gene co-expression network analysis for differentially expressed genes and miRNA-target analysis revealed sex differences in thymic tissue during minipuberty, but such differences were not detected in the thymic tissue of infants aged 7–18 months, i.e. the non-puberty group. AIRE expression was essentially the same in both sexes in minipuberty and in non-puberty groups, as assessed by genomic and immunohistochemical assays. However, AIRE-interactors networks showed several differences in all groups regarding gene-gene expression correlation. Therefore, minipuberty and genomic mechanisms interact in shaping thymic sexual dimorphism along the first six months of life.
This is a case report of a double-outlet left ventricle associated with tricuspid atresia and hypoplasia of the right ventricle, diagnosed during echocardiography with color-flow imaging, in a three Case ReportA three-month-old female child, weighing 2.8kg, was admitted to the hospital with fatigue on light effort. On examination, she was found to be in regular clinical condition, cyanotic, tachypneic, had a respiratory rate of 45 ipm, and a heart rate of 130bpm. Pulmonary auscultatory findings were characterized by diffuse rales, and cardiac auscultation was characterized by a systolic murmur at the medium left sternal border. The second heart sound was split and fixed. Liver enlargement was identified at 2.5cm below the right costal margin, and the pulses were symmetric and palpable. The chest X-ray showed cardiomegaly, and a diffuse pulmonary infiltrate in the right mid-lung zone was revealed on bronchogram and was treated as bronchopneumonia. Doppler echocardiography with color flow imaging showed situs solitus, levocardia, interatrial communication of the ostium secundum type, tricuspid atresia, and a severely hypoplastic right ventricle ( fig. 1). Both arteries arose exclusively from the left ventricle. The pulmonary artery was posterior and left positioned, the aorta was anterior and right positioned, as in D-transposition of great arteries. Subaortic ventricular communication was identified together with mitral-pulmonary Fibrous continuity ( fig. 2). A continuous-wave Doppler examination showed increased pulmonary flow, with a 2.12 m/s velocity. Color-flow imaging showed mild mitral and pulmonary regurgitation.Pulmonary artery banding was indicated, and the postoperative period was uneventful. The patient was sent back to the rejeral center for follow-up examination and a fontan operation was planned for the future.
Background: The bedside two-dimensional echocardiography (2-D ECHO) has been successfully used to guide the balloon atrial septostomy, speeding up the procedure and preventing the risks of transportation to the hemodynamics laboratory.
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