Background and Objectives: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease that affects approximately 1 in 500 people. Due to an incomplete disease penetrance associated with numerous factors, HCM is not manifested in all carriers of genetic mutation. Although about two-thirds of patients are male, it seems that female gender is associated with more severe disease phenotype and worse prognosis. The objective of this study was to evaluate the gender related differences in HCM presentation. Materials and Methods: This study was conducted as a part of the international multidisciplinary SILICOFCM project. Clinical information, laboratory analyses, electrocardiography, echocardiography, and genetic testing data were collected for 362 HCM patients from four clinical centers (Florence, Newcastle, Novi Sad, and Regensburg). There were 33% female patients, and 67% male patients. Results: Female patients were older than males (64.5 vs. 53.5 years, p < 0.0005). The male predominance was present across all age groups until the age of 70, when gender distribution became comparable. Females had higher number of symptomatic individuals then males (69% vs. 52%, p = 0.003), most frequently complaining of dyspnea (50% vs. 30%), followed by chest pain (30% vs. 17%), fatigue (26% vs. 13%), palpitations (22% vs. 13%), and syncope (13% vs. 8%). The most common rhythm disorder was atrial fibrillation which was present in a similar number of females and males (19% vs. 13%, p = 0.218). Levels of N-terminal pro-brain natriuretic peptide were comparable between the genders (571 vs. 794 ng/L, p = 0.244). Echocardiography showed similar thickness of interventricular septum (18 vs. 16 mm, p = 0.121) and posterolateral wall (13 vs. 12 mm, p = 0.656), however, females had a lower number of systolic anterior motion (8% vs. 16%, p = 0.020) and other mitral valve abnormalities. Conclusions: Female patients are underrepresented but seem to have a more pronounced clinical presentation of HCM. Therefore, establishing gender specific diagnostic criteria for HCM should be considered.
Background Biomedical knowledge is dispersed in scientific literature and is growing constantly. Curation is the extraction of knowledge from unstructured data into a computable form and could be done manually or automatically. Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease, with genotype–phenotype associations still incompletely understood. We compared human- and machine-curated HCM molecular mechanisms’ models and examined the performance of different machine approaches for that task. Results We created six models representing HCM molecular mechanisms using different approaches and made them publicly available, analyzed them as networks, and tried to explain the models’ differences by the analysis of factors that affect the quality of machine-curated models (query constraints and reading systems’ performance). A result of this work is also the Interactive HCM map, the only publicly available knowledge resource dedicated to HCM. Sizes and topological parameters of the networks differed notably, and a low consensus was found in terms of centrality measures between networks. Consensus about the most important nodes was achieved only with respect to one element (calcium). Models with a reduced level of noise were generated and cooperatively working elements were detected. REACH and TRIPS reading systems showed much higher accuracy than Sparser, but at the cost of extraction performance. TRIPS proved to be the best single reading system for text segments about HCM, in terms of the compromise between accuracy and extraction performance. Conclusions Different approaches in curation can produce models of the same disease with diverse characteristics, and they give rise to utterly different conclusions in subsequent analysis. The final purpose of the model should direct the choice of curation techniques. Manual curation represents the gold standard for information extraction in biomedical research and is most suitable when only high-quality elements for models are required. Automated curation provides more substance, but high level of noise is expected. Different curation strategies can reduce the level of human input needed. Biomedical knowledge would benefit overwhelmingly, especially as to its rapid growth, if computers were to be able to assist in analysis on a larger scale.
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease with a prevalence of 1 in 500 people and varying clinical presentations. Although there is much research on HCM, underlying molecular mechanisms are poorly understood, and research on the molecular mechanisms of its specific clinical presentations is scarce. Our aim was to explore the molecular mechanisms shared by HCM and its clinical presentations through the automated extraction of molecular mechanisms. Molecular mechanisms were congregated by a query of the INDRA database, which aggregates knowledge from pathway databases and combines it with molecular mechanisms extracted from abstracts and open-access full articles by multiple machine-reading systems. The molecular mechanisms were extracted from 230,072 articles on HCM and 19 HCM clinical presentations, and their intersections were found. Shared molecular mechanisms of HCM and its clinical presentations were represented as networks; the most important elements in the intersections’ networks were found, centrality scores for each element of each network calculated, networks with reduced level of noise generated, and cooperatively working elements detected in each intersection network. The identified shared molecular mechanisms represent possible mechanisms underlying different HCM clinical presentations. Applied methodology produced results consistent with the information in the scientific literature.
2019): Epigenetics in disease etiopathogenesis.-Genetika, Vol 51, No.3, 975-994. The term epigenetics refers to heritable changes in gene expression that are not caused by modifications in DNA sequence. Epigenetic changes are DNA methylation, histone modifications, nucleosome positioning, and non-coding RNA (including microRNA) mediated modifications. Epigenetic mechanisms are involved in malignant diseases, imprinting defects, and some hereditary diseases. Recent research explained the role of epigenetic disorders in infections, autoimmune, neurodegenerative and bone diseases, as well as in psoriasis, endometriosis, and polycystic ovary syndrome. Epigenetic modifications have a potential clinical application as diagnostic and prognostic biomarkers, and also as therapeutic targets in oncology, endocrinology, cardiology, and neuropsychiatry. Stress, anxiety, depression, emotions and many other psychological factors may affect epigenetic mechanisms. Influence of preconception parental stress exposure transmits to the next generation through epigenetic changes, as direct results of prenatal and postnatal environmental factors. Epigenetic changes identify environmental factors which affect health and cause disease onset. Milk is the sophisticated system of communication between mother and infant, operating via epigenetic mechanisms. Lifelong consumption of bovine milk causes epigenetic disorders. Recent studies provide important information about the role of bioactive dietary nutrients which modify DE SARIO, A. (2009): Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation. Eur. J. Med. Genet., 52(6): 363-372.
Mast cells are mainly distributed in tissues exposed to the external environment, but they are also found in ovaries, oviducts and uterus. We determined the difference in the number and distribution of Alcian Blue (+) and Safranine O (+) mast cells in reproductive systems of gravid and non-gravid female mice by histological examination. We showed that the number of mast cells is significantly higher in the reproductive system of gravid mice than in the reproductive system of non-gravid mice. Mast cells are unevenly distributed in ovaries, oviducts and uterus in both gravid and non-gravid mice. A large number of mast cells reside close to blood vessels throughout the entire reproductive system.
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