Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognosis in humans. It presents as a complete absence of the right atrio-ventricular connection secured normally by the tricuspid valve. Defects in the tricuspid valve are so far not associated with any genetic locus, although mutations in numerous genes were linked to multiple forms of congenital heart disease. In the last decade, Knock-out mice have offered models for cardiologists and geneticists to study the causes of congenital disease. One such model was the Nfatc1 −/− mice embryos which die at mid-gestation stage due to a complete absence of the valves. NFATC1 belongs to the Rel family of transcription factors members of which were shown to be implicated in gene activation, cell differentiation, and organogenesis. We have previously shown that a tandem repeat in the intronic region of NFATC1 is associated with ventricular septal defects. In this report, we unravel for the first time a potential link between a mutation in NFATC1 and TA. Two heterozygous missense mutations were found in the NFATC1 gene in one indexed-case out of 19 patients with TA. The two amino-acids changes were not found neither in other patients with CHDs, nor in the control healthy population. Moreover, we showed that these mutations alter dramatically the normal function of the protein at the cellular localization, DNA binding and transcriptional levels suggesting they are disease-causing.

Summary Introduction:  Despite increasing evidence on the roles of aspirin and clopidogrel in decreasing morbidity and mortality from cardiovascular disease, resistance to therapy remains an emerging clinical entity. The aim of this review was to revisit current knowledge of the mechanisms, laboratory evaluation, clinical impact and management of resistance to aspirin and clopidogrel therapy. Methods:  Potentially relevant studies were identified from an electronic search of MEDLINE and PubMed databases. There were no language or publication year restrictions. References in published articles were also reviewed. Results:  Several definitions for resistance have been set, and various laboratory testing modalities are available. The pathophysiological mechanisms remain poorly understood; yet, several extrinsic, intrinsic and genetic factors are described. The clinical implications of this phenomenon are alarming and warrant concern. Management is currently limited to dosing alteration and introduction of other antiplatelet agents. Conclusion:  Data from ongoing and future studies are awaited to better understand this entity and to highlight the most appropriate treatment strategies.

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BACKGROUND:The removal of the laryngeal mask airway (LMA®) in children may be associated with respiratory adverse events. The rate of occurrence of these adverse events may be influenced by the type of anesthesia. Studies comparing total intravenous anesthesia (TIVA) with propofol and sevoflurane are limited with conflicting data whether propofol is associated with a lower incidence of respiratory events upon removal of LMA as compared to induction and maintenance with sevoflurane. We hypothesized that TIVA with propofol is superior to sevoflurane in providing optimal conditions and improved patient's safety during emergence. METHODS: In this prospective, randomized, double-blind clinical trial, children aged 6 months to 7 years old were enrolled in 1 of 2 groups: the TIVA group and the sevoflurane group. In both groups, patients were mechanically ventilated. At the end of the procedure, LMAs were removed when patients were physiologically and neurologically recovered to a degree to permit a safe, natural airway. The primary aim of this study was to compare the occurrence of at least 1 respiratory adverse event, the prevalence of individual respiratory adverse events, and the airway hyperreactivity score following emergence from anesthesia between the 2 groups. Secondary outcomes included ease of LMA insertion, quality of anesthesia during the maintenance phase, hemodynamic stability, time to LMA removal, and incidence of emergence agitation. RESULTS: Children receiving TIVA with propofol had a significantly lower incidence (10.8.% vs 36.2%; relative risk, 0.29; 95% CI [0.14-0.64]; P = .001) and lower severity (P = .01) of respiratory adverse outcomes compared to the patients receiving inhalational anesthesia with sevoflurane. There were no statistically significant differences in secondary outcomes between the 2 groups, except for emergence agitation that occurred more frequently in patients receiving sevoflurane (P < .001). CONCLUSIONS: Propofol induction and maintenance exerted a protective effect on healthy children with minimal risk factors for developing perioperative respiratory complications, as compared to sevoflurane.

<0.9; waiting for the appearance of the second response of TOF increases the time to 14.0 AE 7.6, 9.7 AE 4.6 and 12.5 AE 13.0 min, respectively. This would mean an increase in the time to reach a safe TOFr for extubation of 5.2, 7.2, and 10.7 min in each group.