717 research outputs found

    MR imaging in hypertrophic cardiomyopathy: From magnet to bedside

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    Life-long tailoring of management for patients with hypertrophic cardiomyopathy

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    Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease, characterised by complex pathophysiology and extensive genetic and clinical heterogeneity. In most patients, HCM is caused by mutations in cardiac sarcomere protein genes and inherited as an autosomal dominant trait. The clinical phenotype ranges from severe presentations at a young age to lack of left ventricular hypertrophy in genotype-positive individuals. No preventative treatment is available as the sequence and causality of the pathomechanisms that initiate and exacerbate HCM are unknown. Sudden cardiac death and end-stage heart failure are devastating expressions of this disease. Contemporary management including surgical myectomy and implantable cardiac defibrillators has shown significant impact on long-term prognosis. However, timely recognition of specific scenarios – including transition to the end-stage phase – may be challenging due to limited awareness of the progression patterns of HCM. This in turn may lead to missed therapeutic opportunities. To illustrate these difficulties, we describe two HCM patients who progressed from the typical hyperdynamic stage of asymmetric septal thickening to end-stage heart failure with severely reduced ejection fraction. We highlight the different stages of this complex inherited cardiomyopathy based on the clinical staging pro-posed by Olivotto and colleagues. In this way, we aim to provide a practical guide for clinicians and hope to increase awareness for this common form of cardiac disease

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    On the Cardiac Loop and Its Failing: Left Ventricular Outflow Tract Obstruction

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    Doctor-patient care relationship in genetic cardiomyopathies: An exploratory study on clinical consultations

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    BackgroundThe present study aims to explore the setting of consultation and communication between physicians and patients affected by genetic cardiomyopathies, investigating how the two parts of the therapeutic relationship participate and share information.Methods and results45 adult patients affected by various cardiomyopathies took part in a prospective case study while attending consultations at a cardiologic outpatient clinic constituting an Italian referral centre for cardiomyopathies. A researcher observed the consultations, which were audio-recorded and transcribed. Transcripts were coded and an analysis of setting, type of communication implemented and participation of doctors and patients in terms of word-count and type of questions/answers was carried out. Overall word-count was significantly higher for physicians than for patients (t(44) = 9,506; pConclusionsFindings emphasize patients' need for adequate time and space to share their subjective illness experience with the physician, within an approach informed by the insights and recommendations of Narrative Medicine. These findings are instrumental to improving the specific clinical setting for individuals with genetic cardiomyopathies

    Application of laboratory methods for understanding fish responses to black soldier fly (Hermetia illucens) based diets

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    A major challenge for development of sustainable aquafeeds is its dependence on fish meal and fish oil. Replacement with more sustainable, nutritious and safe ingredients is now a priority. Over the last years, among several alternatives proposed, insects have received great attention as possible candidates. In particular, the black soldier fly (Hermetia illucens; BSF) represents a concrete example of how the circular economy concept can be applied to fish culture, providing a valuable biomass rich in fat and protein valorising organic by-products. In the last decade, several studies have been published about the use of different BSF dietary inclusion levels for various fish species including experimental models. Varying and encouraging results have been obtained in this research field using a plethora of laboratory methodological approaches that can be applied and coupled to obtain a comprehensive view of the BSF-based diets effects on fish physiology, health, and quality. The present review aims to explore some of the most promising laboratory approaches like histology, infrared spectroscopy, gut microbiome sequencing, molecular biology, fish fillets’ physico-chemical and sensory properties, essential for a better understanding of fish welfare and fillet quality, when BSF is used as aquafeed ingredient. In particular, great importance has been given to European finfish species and experimental models.publishedVersio
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