195 research outputs found

    Congenital complete atrioventricular block in the early pediatric population

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    Congenital complete atrioventricular block (CCAVB) is a rare potentially lethal disease with an estimated incidence of 1 every 15.000 to 20.000 live born infants

    Maximum likelihood estimates of pairwise rearrangement distances

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    Accurate estimation of evolutionary distances between taxa is important for many phylogenetic reconstruction methods. In the case of bacteria, distances can be estimated using a range of different evolutionary models, from single nucleotide polymorphisms to large-scale genome rearrangements. In the case of sequence evolution models (such as the Jukes-Cantor model and associated metric) have been used to correct pairwise distances. Similar correction methods for genome rearrangement processes are required to improve inference. Current attempts at correction fall into 3 categories: Empirical computational studies, Bayesian/MCMC approaches, and combinatorial approaches. Here we introduce a maximum likelihood estimator for the inversion distance between a pair of genomes, using the group-theoretic approach to modelling inversions introduced recently. This MLE functions as a corrected distance: in particular, we show that because of the way sequences of inversions interact with each other, it is quite possible for minimal distance and MLE distance to differently order the distances of two genomes from a third. This has obvious implications for the use of minimal distance in phylogeny reconstruction. The work also tackles the above problem allowing free rotation of the genome. Generally a frame of reference is locked, and all computation made accordingly. This work incorporates the action of the dihedral group so that distance estimates are free from any a priori frame of reference.Comment: 21 pages, 7 figures. To appear in the Journal of Theoretical Biolog

    A path-deformation framework for determining weighted genome rearrangement distance

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    Measuring the distance between two bacterial genomes under the inversion process is usually done by assuming all inversions to occur with equal probability. Recently, an approach to calculating inversion distance using group theory was introduced, and is effective for the model in which only very short inversions occur. In this paper, we show how to use the group-theoretic framework to establish minimal distance for any weighting on the set of inversions, generalizing previous approaches. To do this we use the theory of rewriting systems for groups, and exploit the Knuth--Bendix algorithm, the first time this theory has been introduced into genome rearrangement problems. The central idea of the approach is to use existing group theoretic methods to find an initial path between two genomes in genome space (for instance using only short inversions), and then to deform this path to optimality using a confluent system of rewriting rules generated by the Knuth--Bendix algorithm

    His bundle pacing guided by automated intrinsic morphology matching is feasible in patients with narrow QRS complexes

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    Pace mapping and visual comparison of the local pacing response with the intrinsic QRS morphology form the mainstay of His bundle pacing (HBP). We evaluated the performance of a surface lead morphology match algorithm for automated classification of the pacing response in patients with narrow intrinsic QRS undergoing electroanatomic mapping (EAM)-guided HBP. HBP was attempted in 43 patients. In 28 cases with narrow QRS, the EnSite AutoMap Module was used for automated assessment of the QRS morphology resulting from pace mapping in the His cloud area with either a diagnostic catheter or the His lead. An intrinsic morphology match score (IMS) was calculated for 1.546 QRS complexes and assessed regarding its accuracy and performance in classifying the individual pacing response as either selective HBP (S-HBP), nonselective HBP (NS-HBP) or right ventricular stimulation. Automated morphology comparison of 354 intrinsic beats with the individual reference determined a test accuracy of 99% (95% CI 98.96–99.04) and a precision of 97.99–99.5%. For His-lead stimulation, an IMS ≥ 89% identified S-HBP with a sensitivity, specificity and positive predictive value of 1.00 (0.99, 1.00) and a negative predictive value of 0.99 (0.98, 1.00). An IMS between 78 and < 89% indicated NS-HBP with a sensitivity and specificity of 1.00 (0.99, 1.00) and 0.99 (0.98, 1.00), respectively. IMS represents a new automated measure for standardized individual morphology classification in patients with normal QRS undergoing EAM-guided HBP. Clinical trial registration: NCT04416958

    Dark Chocolate Intake Positively Modulates Redox Status and Markers of Muscular Damage in Elite Football Athletes: A Randomized Controlled Study

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    Intensive physical exercise may cause increase oxidative stress and muscular injury in elite football athletes. The aim of this study was to exploit the effect of cocoa polyphenols on oxidative stress and muscular injuries induced by intensive physical exercise in elite football players. Oxidant/antioxidant status and markers of muscle damage were evaluated in 24 elite football players and 15 controls. Furthermore, the 24 elite football players were randomly assigned to either a dark chocolate (>85% cocoa) intake (n = 12) or a control group (n = 12) for 30 days in a randomized controlled trial. Oxidative stress, antioxidant status, and muscle damage were assessed at baseline and after 30 days of chocolate intake. Compared to controls, elite football players showed lower antioxidant power and higher oxidative stress paralleled by an increase in muscle damage markers. After 30 days of dark chocolate intake, an increased antioxidant power was found in elite athletes assuming dark chocolate. Moreover, a significant reduction in muscle damage markers (CK and LDH, p < 0.001) was observed. In the control group, no changes were observed with the exception of an increase of sNox2-dp, H2O2, and myoglobin. A simple linear regression analysis showed that sNox2-dp was associated with a significant increase in muscle damage biomarker release (p = 0.001). An in vitro study also confirmed that polyphenol extracts significantly decreased oxidative stress in murine myoblast cell line C2C12-derived. These results indicate that polyphenol-rich nutrient supplementation by means of dark chocolate positively modulates redox status and reduced exercise-induced muscular injury biomarkers in elite football athletes. This trial is registered with NCT03288623

    TAVI: New trials and registries offer further welcome evidence - U.S. CoreValve, CHOICE, and GARY

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    The introduction of transcatheter aortic valve implantation (TAVI) has resulted in a paradigm shift in the treatment of patients with severe aortic stenosis. Data from the recent U.S CoreValve Trial suggest, for the first time, that TAVI is associated with a significantly higher rate of survival at one year compared to surgical aortic valve replacement (SAVR) in the treatment of high-risk patients affected by severe aortic stenosis. The present review discusses this study and the current evidence about TAVI, for the treatment of severe aortic stenosis, from major trials and real world registries

    Coronary covered stents

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    Covered stents offer an effective bail-out strategy in vessel perforations, are an alternative to surgery for the exclusion of coronary aneurysms, and have a potential role in the treatment of friable embolisation-prone plaques. The aim of this manuscript is to offer an overview of currently available platforms and to report results obtained in prior studies

    Acute Subarachnoid Hemorrhage and Cardiac Abnormalities: Takotsubo Cardiomyopathy or Neurogenic Stunned Myocardium? a case report

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    Abstract Introduction Cardiac abnormalities can be seen with subarachnoid hemorrhage. To date, there have been isolated case reports of transient left ventricular apical ballooning cardiomyopathy, also known as Takotsubo cardiomyopathy in patients suffering from subarachnoid hemorrhage. Case presentation An adult female was brought to the emergency department with somnolence. A 3 × 3 mm ruptured basilar aneurysm was found and successfully embolized. Two days after the patient developed acute heart failure. Troponin-I was elevated to 4.2 (normal \u3c0.4). On ECG, new symmetric T wave inversion in V3, V4, V5 with prolonged QT were evident. Transthoracic echocardiogram showed severe systolic dysfunction with an ejection fraction of 20% and akinetic apex along with the distal left ventricular segments, consistent with Takotsubo cardiomyopathy. Myocardial contrast echocardiography showed a decrease in capillary blood flow and volume in the akinetic areas with delayed contrast replenishment, sparing the basal segments. A repeat study 2 weeks later showed near normalization of the perfusion parameters. The patient improved with medical management. A repeat echocardiogram, a month later revealed an ejection fraction of 45% with no identifiable wall motion abnormality. Conclusion Our case, as well as others reported previously, supports the diagnosis of Takotsubo cardiomyopathy in patients with Subarachnoid Hemorrhage who fulfill the clinical and imaging description of this syndrome
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