81 research outputs found

    A c.3037G > A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.

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    Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presenting with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The patient underwent a multidisciplinary approach and his clinical diagnosis was associated with a c.3037G > A mutation in the FBN1 gene. Identification of this genetic alteration should instigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastating consequences such as cardiac and ocular phenotype. Molecular modeling of the mutation highlighted the importance of the preservation of the calcium-dependent structure of an epidermal -growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formation process. This report aims to highlight the importance of an early clinical and molecular diagnosis and once more, the importance of the multidisciplinary approach of this genetic entity

    CMS physics technical design report : Addendum on high density QCD with heavy ions

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    Miocardite: la grande simulatrice

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    Myocarditis is a rare, but life threatening disease in childhood. It is most often due to common viral infections; less commonly, it may result from bacterial infections, immune mediated diseases or chemotherapy. Myocarditis may present with unspecific symptoms, ranging from respiratory to gastrointestinal ones; a clear hypomobility is the typical sign of myocarditis (\u201cthe immobile child\u201d). The diagnosis is based on electrocardiogram and echocardiography, which are always pathologic but unspecific; an X-chest is useful to identify cardiomegaly. Among laboratory tests, the most sensitive element is an increased level of aspartate aminotransferase, while troponin dosage has low specificity and not absolute sensitivity. Endomyocardial biopsy is the gold standard diagnostic test, but it should be performed only in patients who do not respond to usual treatment, because of the high risk of side effects. The mainstay of therapy is supportive therapy for left ventricular dysfunction. The fulminant viral forms usually have initial significant cardiovascular impairment, followed by a complete resolution. On the other hand, a subacute disease might have less initial cardiovascular impairment, but more often can evolve to chronic dilated cardiomyopathy. In this case immunosuppressive therapy could be useful

    Insights from Cardiac Mechanics after Three Decades from Successfully Repaired Aortic Coarctation

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    BACKGROUND AND AIMS: Patients who underwent a successful repair of the aortic coarctation show chronic hyperdynamic state and normal left ventricular (LV) geometry; however, there are few data regarding the LV systolic function in the long term. Accordingly, we assessed LV systolic mechanics and factors associated with LV systolic dysfunction (LVSD) in patients with repaired CoA. METHODS: Clinical and echocardiographic data from 19 repaired CoA were analyzed 28\u2009\ub1\u200913 years after surgery. Stress-corrected midwall shortening (sc-MS) and mitral annular peak systolic velocity (S') were analyzed as indexes of LV circumferential and longitudinal systolic function, respectively. Echocardiographic data of CoA patients were compared with 19 patients matched for age and hypertension and 38 healthy controls. Sc-MS was considered impaired if <89%, S' if <8.5 cm/s (10th percentiles of healthy controls, respectively). RESULTS: There were no statistical differences between study groups in LV volumes, mass and geometry. LV ejection fraction and Sc-MS were similar in all groups, however, CoA group had a significantly lower peak S' in comparison with matched and healthy controls (7.1\u2009\ub1\u20091.3, 10.3\u2009\ub1\u20091.9, and 11.1\u2009\ub1\u20091.5, respectively; all P\u2009<\u20090.001). Prevalence of longitudinal LVSD defined as low S' was 84% in CoA, 13% in matched, and 5% in healthy control group (all P<0.05). Multivariate logistic regression analysis revealed that low peak S' was independently related to higher E/E' ratio and the presence of CoA. CONCLUSIONS: Patients who underwent a successful repair of CoA commonly show asymptomatic longitudinal LVSD associated with worse LV diastolic function in the long-term follow-up

    The LHCb upgrade I

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    International audienceThe LHCb upgrade represents a major change of the experiment. The detectors have been almost completely renewed to allow running at an instantaneous luminosity five times larger than that of the previous running periods. Readout of all detectors into an all-software trigger is central to the new design, facilitating the reconstruction of events at the maximum LHC interaction rate, and their selection in real time. The experiment's tracking system has been completely upgraded with a new pixel vertex detector, a silicon tracker upstream of the dipole magnet and three scintillating fibre tracking stations downstream of the magnet. The whole photon detection system of the RICH detectors has been renewed and the readout electronics of the calorimeter and muon systems have been fully overhauled. The first stage of the all-software trigger is implemented on a GPU farm. The output of the trigger provides a combination of totally reconstructed physics objects, such as tracks and vertices, ready for final analysis, and of entire events which need further offline reprocessing. This scheme required a complete revision of the computing model and rewriting of the experiment's software

    The LHCb upgrade I

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    The LHCb upgrade represents a major change of the experiment. The detectors have been almost completely renewed to allow running at an instantaneous luminosity five times larger than that of the previous running periods. Readout of all detectors into an all-software trigger is central to the new design, facilitating the reconstruction of events at the maximum LHC interaction rate, and their selection in real time. The experiment's tracking system has been completely upgraded with a new pixel vertex detector, a silicon tracker upstream of the dipole magnet and three scintillating fibre tracking stations downstream of the magnet. The whole photon detection system of the RICH detectors has been renewed and the readout electronics of the calorimeter and muon systems have been fully overhauled. The first stage of the all-software trigger is implemented on a GPU farm. The output of the trigger provides a combination of totally reconstructed physics objects, such as tracks and vertices, ready for final analysis, and of entire events which need further offline reprocessing. This scheme required a complete revision of the computing model and rewriting of the experiment's software

    The LHCb upgrade I

    No full text
    International audienceThe LHCb upgrade represents a major change of the experiment. The detectors have been almost completely renewed to allow running at an instantaneous luminosity five times larger than that of the previous running periods. Readout of all detectors into an all-software trigger is central to the new design, facilitating the reconstruction of events at the maximum LHC interaction rate, and their selection in real time. The experiment's tracking system has been completely upgraded with a new pixel vertex detector, a silicon tracker upstream of the dipole magnet and three scintillating fibre tracking stations downstream of the magnet. The whole photon detection system of the RICH detectors has been renewed and the readout electronics of the calorimeter and muon systems have been fully overhauled. The first stage of the all-software trigger is implemented on a GPU farm. The output of the trigger provides a combination of totally reconstructed physics objects, such as tracks and vertices, ready for final analysis, and of entire events which need further offline reprocessing. This scheme required a complete revision of the computing model and rewriting of the experiment's software
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