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The genetics of human congenital coronary vascular anomalies (hCCVA) remains largely underresearched. This is surprising, because although coronary vascular defects represent a relatively small proportion of human congenital heart disease (CHD), hCCVAs are clinically significant conditions. Indeed, hCCVA frequently associate to other congenital cardiac structural defects and may even result in sudden cardiac death in the adult. In this brief chapter, we will attempt to summarize our current knowledge on the topic, also proposing a rationale for the development of novel approaches to the genetics of hCCVA., (© 2024. The Author(s), under exclusive license to Springer Nature Switzerland AG.)

Aguamiel is a natural sap produced by some species of agave plants, such as Agave salmiana, A. atrovirens , or A. angustifolia . It is a product with a high concentration of fructose, glucose or sucrose, although its composition may vary depending on the season in which it is produced, and may also contain agave fructans (or agavins) or fructooligosaccharides (FOS). It has been reported that FOS can be produced by enzymes that act on sucrose or inulin, transfructosylating or hydrolyzing these materials, respectively. Due to the sugar content in aguamiel, the application of an enzymatic complex produced by Aspergillus oryzae DIA MF was carried out. This complex was characterized by 1-D electrophoresis SDS-PAGE, and its transfructosylation and hydrolysis activities were determined by HPLC. In order to determine the conditions at which the concentration of FOS in this beverage increased, kinetics were carried out at different temperatures (30, 50, and 70°C) and times (0, 1, 2, 3, 4, 5, 10, and 15 h). Finally, the antioxidant and prebiotic activities were evaluated. FOS concentration in aguamiel was increased from 1.61 ± 0.08 to 31.01 ± 3.42 g/ L after 10 h reaction at 30°C applying 10% enzymatic fraction-substrate (v/v). Antioxidant activity was highly increased (34.81-116.46 mg/eq Trolox in DPPH assay and 42.65 to 298.86 mg/eq Trolox in FRAP assay) and growth of probiotic bacteria was higher in aguamiel after the enzymatic treatment. In conclusion, after the application of the enzymatic treatment, aguamiel was enriched with FOS which improved antioxidant and prebiotic properties, so it can be used as a functional food.

We conducted a retrospective study of 36 patients with reverse shoulder prostheses to assess whether placement of the glenoid component affected development of scapular notches. Minimum follow-up was 2 years. Glenosphere position and its relation to scapular notching was analyzed radiographically. The glenosphere overhung the inferior glenoid rim in 19 cases (52.8%) and was flush with the rim in the other 17 cases (47.2%). A scapular notch developed in 13 (36.1%) of the 36 cases. The notch developed in 8 (42.1%) of the 19 cases in which the glenosphere overhung the inferior rim, and in 5 (29.4%) of the 17 cases in which the glenosphere was flush with the rim. There were no significant differences (P = .601) between the 2 groups (overhanging vs flush glenoid component) with respect to development of scapular notching. Preoperative and postoperative Constant-Murley Shoulder Outcome scores were 19.42 and 49.21 for the group with scapular notches, and 25.09 and 51.96 for the group without notches. From a clinical viewpoint, there were no significant differences in scapular notch development and functional Constant-Murley Shoulder Outcome scores between glenospheres overhanging the glenoid rim and glenospheres flush with the glenoid rim.

Mid-line sternotomy is the routine approach for surgical repair of congenital heart diseases. However, its noticeable scar is a constant reminder of having undergone heart surgery. Several alternative approaches have been developed for simple cardiac conditions to hide the scar. Our series, consisting of 26 patients with axillary closure of atrial septal defect, is presented. The median age was 5.45 years (range 3-13), and median weight was 19.84 Kg. (range 13-37). The defect was closed directly in 13 cases, and with an autologous pericardial patch in the other 13. The number of surgical steps and time taken were the same as in median sternotomy. Functional recovery, intensive care unit stay, and hospital discharge were also standard. The cosmetic result, assessed both by patients and relatives, was excellent., (Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Introduction and Objectives: Minimally invasive approaches in less-complex cardiac procedures can avoid unpleasant cosmetic results. Moreover, surgery can be scheduled in younger patients. In previous papers, we compared submammary and midline sternotomy. We present our initial experience with an axillary, compared to submammary, approach to repair atrial septal defects under extracorporeal circulation., Methods: 20 patients are included: 10 in the submammary group (7 ostium secundum, 2 sinus venosus, 1 ostium primum) and 10 in the axillary group (7 ostium secundum, 3 sinus venosus). Mean age and weight are 6.4±3.62 years (range 3-13) and 23.5±8.74 Kg (range 12-38) in the submammary group, and 5.5±2.04 years (range 3-9) and 19.7±5.88 Kg (range 14-29) in the axillary one, respectively. Muscles are spared (pectoralis in submammary and latissimus in axillary). The whole procedure (cannulation and correction) is performed through a single incision, with no side ports., Results: No residual defects were found at discharge. Surgical approach maneuvers are more cumbersome through the axillary than the submammary approach. In a peer comparison, extracorporeal circulation and cross-clamp time were similar in both groups (P>.05)., Conclusions: 1. Axillary approach is as safe as submammary access in selected patients and for defects approached through the atrium. 2. Cosmetic result is excellent., (Copyright © 2010 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.)

Carney's triad is defined by the coexistence of at least two of three rare disorders, including gastric epithelioid leiomyosarcoma (malignant leiomyoblastoma), pulmonary chondroma, and paraganglioma, most often extra-adrenal and functioning. We report a new case in a 10-year-old girl. The paraganglioma, although nonfunctioning, was detected after it was searched for, as Carney's triad was suspected. Unrelated seems the development of breast fibroadenomas in the same patient. Whenever a patient with one component of the triad is encountered, the possibility of this syndrome should be considered and the other two components sought.