3 research outputs found

    Circulatory system of Sharangadhara Samhita

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    In the back light of the inspirational article of Kishor Patwardhan ji ‘The history of the discovery of blood circulation: unrecognized contributions of Ayurveda masters’ raising at most relevant issue of neglected Ayurvedic scholars’ contribution to the field of Anatomy-physiology well ahead of the contemporary developing sciences. Crawling in the same lines this article is dedicated for one such legendary Sharangadhara and his work related to Circulatory system. Structural entities play a major role in any of the system; especially in Medicine and that too in Ayurveda as it recommends ‘Rogam ado pareekshet’ shows how important the examination of a diseased person is considered by our Acharyas. The Circulatory System is one such structural physical entity, not only circulate but has additional Functions like Nutrition, Metabolism, Excretion system of body depends, endocrine etc. As early as 200 BC, works to understand this human body was initiated. In this article an attempt is made to sketch out the understanding of circulatory system as evident in 14th century in India through the prismatic view of Sharangadhara Samhita and its commentator

    Yield and clinical utility of the ‘molecular autopsy’ in cases of the Sudden Arrhythmic Death Syndrome (SADS) and their families

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    Post-mortem genetic testing (‘molecular autopsy’) of sudden arrhythmic death syndrome (SADS) cases can establish a clear molecular diagnosis in a substantial minority. This complements family evaluation. Classification of pathogenicity of genetic variants must, however, be stringent in order to avoid the over calling of variants of unknown significance as causative. Children and young adults presenting with seizures and syncope, especially when associated with stress or exercise, require thorough cardiac evaluation in order to not miss catecholaminergic polymorphic ventricular tachycardia. Molecular autopsy should not however be restricted to the young as cases over 35 years old also carry diagnostic variants

    The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.

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    Sudden cardiac death (SCD) is often associated with structural abnormalities of the heart during autopsy. This study sought to compare the diagnostic yield of postmortem genetic testing in (1) cases with structural findings of uncertain significance at autopsy to (2) cases with autopsy findings diagnostic of cardiomyopathy. We evaluated 57 SCD cases with structural findings at cardiac autopsy. Next-generation sequencing using a panel of 77 primary electrical disorder and cardiomyopathy genes was performed. Pathogenic and likely pathogenic variants were classified using American College of Medical Genetics (ACMG) consensus guidelines. In 29 cases (51%) autopsy findings of uncertain significance were identified whereas in 28 cases (49%) a diagnosis of cardiomyopathy was established. We identified a pathogenic or likely pathogenic variant in 10 cases (18%); in 1 (3%) case with non-specific autopsy findings compared with 9 (32%) cases with autopsy findings diagnostic of cardiomyopathy (p = 0.0054). The yield of genetic testing in SCD cases with autopsy findings consistent with cardiomyopathy is comparable with the yield in cardiomyopathy patients that are alive. Genetic testing in cases with findings of uncertain significance offers lower clinical utility than in cardiomyopathy, with lower yields than detected previously. This highlights the need for stringent evaluation of variant pathogenicity
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