Additional file 9 of Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations
J. PeiMaike SchuldtE. NagyovaZ. GuSaid el BouhaddaniLoukia YiangouM. JansenJorg J. A. CalisL. M. DorschC. Snijders BlokNoortje A. M. van den DungenNico LansuBastiaan J. BoukensIgor R. EfimovMichelle MichelsMarianne C. VerhaarRoel de WegerAryan VinkFrank G. van SteenbeekAnnette F. BaasRichard P. DavisHae‐Won UhDiederik W.D. KusterCaroline ChengMichal MokrýJolanda van der VeldenFolkert W. AsselbergsMagdaléna Harakaľová
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Additional file 9: Table S1 An overview of the clinical characteristics in all cardiac samplesKeywords:
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Abstract Metabolic diseases including type 2 diabetes mellitus (T2DM), non-alcoholic fatty liver disease (NAFLD), and metabolic syndrome (MetS) are alarming health burdens around the world, while therapies for these diseases are far from satisfying as their etiologies are not completely clear yet. T2DM, NAFLD, and MetS are all complex and multifactorial metabolic disorders based on the interactions between genetics and environment. Omics studies such as genetics, transcriptomics, epigenetics, proteomics, and metabolomics are all promising approaches in accurately characterizing these diseases. And the most effective treatments for individuals can be achieved via omics pathways, which is the theme of precision medicine. In this review, we summarized the multi-omics studies of T2DM, NAFLD, and MetS in recent years, provided a theoretical basis for their pathogenesis and the effective prevention and treatment, and highlighted the biomarkers and future strategies for precision medicine.
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Various animal and cell culture models of diabetes mellitus (DM) have been established and utilized to study diabetic peripheral neuropathy (DPN). The divergence of metabolic abnormalities among these models makes their etiology complicated despite some similarities regarding the pathological and neurological features of DPN. Thus, this study aimed to review the omics approaches toward DPN, especially on the metabolic states in diabetic rats and mice induced by chemicals (streptozotocin and alloxan) as type 1 DM models and by genetic mutations (MKR, db/db and ob/ob) and high-fat diet as type 2 DM models. Omics approaches revealed that the pathways associated with lipid metabolism and inflammation in dorsal root ganglia and sciatic nerves were enriched and controlled in the levels of gene expression among these animal models. Additionally, these pathways were conserved in human DPN, indicating the pivotal pathogeneses of DPN. Omics approaches are beneficial tools to better understand the association of metabolic changes with morphological and functional abnormalities in DPN.
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Polycystic ovary syndrome (PCOS) is the most common gynecological endocrine disease, involving multiple genes, multiple pathways, and complex hormone secretion processes. Hence, the pathogenesis of PCOS cannot be explained by a single factor. Omics analysis includes genomics, transcriptomics, and proteomics, which are fast and effective methods for studying the pathogenesis of diseases. PCOS is primarily characterized by androgen excess, and reproductive and metabolic dysfunctions. The application of omics analysis in the body fluids, blood, cells or tissues of women with PCOS offers the potential for unexpected molecular advantages in explaining new mechanisms of PCOS etiology and pathophysiology, and provides new perspectives for identifying potential biomarkers and developing new therapeutic targets. At present, several omics analyses have been applied to produce complex datasets. In this manuscript, the recent advances in omics research on PCOS are summarized, aiming at an important and parallel review of the newly published research.
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Purpose of review The purpose of this review is to recapture recent advances in cachexia-related diseases, mainly cancer cachexia, and treatment using genomic, transcriptomics, proteomic, and metabolomics-related techniques. Recent findings From recent studies in the cancer cachexia field it is clear that the tumor has a direct effect on distant organs via its secretome. The affected pathways on the other hand were largely known from earlier studies with changes in energy-related pathways (mainly lipid metabolism) and the protein degradation pathways. Treatment-oriented studies use mostly rodent models and in-vivo cultures and it is too early for human studies. Summary Omics tools are powerful if used in the right way. Omics research has identified the tumor as an important player in cancer cachexia and some interesting novel treatments have been found in experimental models.
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Objective:To explore the feasibility of the diagnosis of hypertrophic cardiomyopathy through analyzing clinical symptoms and signs,electrocardiogram and echocardiography,and to discuss the causes of misdiagnosis. Method:The clinical data of 36 cases with hypertrophic cardiomyopathy was analyzed. Result:Hypertrophic cardiomyopathy has diverse clinical manifestations and lack of specificity.So it is easy to be misdiagnosed,which requires us to make comprehensive consideration.Echocardiography examination can be used as the preferred method of clinical diagnosis and review. Conclusion:In order to reduce the rate of misdiagnosis and to early treat,we should improve the understanding of hypertrophic cardiomyopathy.
Clinical Diagnosis
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