Background
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations.
Methods
As a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography.
Results
The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p = 0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085). Laboratory analyses revealed normal levels of creatinine (85.5 ± 18.3 vs. 81.3 ± 16.4 µmol/l; p = 0.487) and blood urea nitrogen (10.2 ± 15.6 vs. 6.9 ± 3.9 mmol/l; p = 0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p = 0.001). The difference in diastolic function, i.e. E/e′ ratio between the two groups was also noted (MYBPC3 8.8 ± 3.3, MYH7 13.9 ± 6.9, p = 0.079).
Conclusions
Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.
Balkan Peninsula is one of the most important biodiversity centers in Europe. Despite that, the usage of plant species in the traditional medicine of some Balkan regions remained largely unexplored in the past. This study aimed to collect and document data on the traditional use of medicinal plants in Pcǐnja district in SouthEastern Serbia, which is among the least developed regions in Serbia. Also, comparison with data collected by Dr. Jovan Tucakov, in a book called Herbal therapy was conducted. The survey was carried out using semi-structured interviews and 113 informants were interviewed. Quantitative ethnobotany factors were calculated, allowing us discussing the results. The informants reported data on 86 medicinal plants belonging to 43 families in Pcǐnja district. Lamiaceae, Asteraceae, and Rosaceae were the dominant locally used families. The species with the highest number of use reports were Mentha piperita, Matricaria chamomilla, and Hypericum perforatum. Gastrointestinal ailments, respiratory problems and skin diseases were the most frequently reported indications. Usually, the administration was primarily oral followed by topical applications. Leaves were dominantly exploited plant parts and the most frequent preparation form was infusion. Medicinal plants in Pcǐnja district are mainly used as a mode of primary health care for treating minor health issues. After comparing our results with the ones collected half a century ago by Dr. Jovan
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