{"id":1096,"date":"2014-06-24T10:01:36","date_gmt":"2014-06-24T08:01:36","guid":{"rendered":"http:\/\/ueflibrary.wordpress.com\/?p=1096"},"modified":"2026-02-03T13:17:56","modified_gmt":"2026-02-03T11:17:56","slug":"mesh-on-demand-tyokalu-sopivien-asiasanojen-loytamiseksi","status":"publish","type":"post","link":"https:\/\/blogs.uef.fi\/ueflibrary\/mesh-on-demand-tyokalu-sopivien-asiasanojen-loytamiseksi\/","title":{"rendered":"MeSH on demand — ty\u00f6kalu sopivien asiasanojen l\u00f6yt\u00e4miseksi"},"content":{"rendered":"\n

MeSH on Demand<\/bdo>in<\/strong> avulla on helppo\u00a0l\u00f6yt\u00e4\u00e4 tietyn aiheen MeSH-termej\u00e4. MeSH on Demand<\/bdo><\/a> -hakuun voi lis\u00e4t\u00e4 (kopioida) jopa 10000 merkki\u00e4 teksti\u00e4, jonka ei tarvitse olla hakusanoja, vaan mit\u00e4 tahansa\u00a0teksti\u00e4, vaikka artikkelin abstrakti.<\/p>\n\n\n\n

Esimerkiksi artikkelin<\/p>\n\n\n\n

J\u00e4\u00e4skel\u00e4inen P, Heli\u00f6 T, Aalto-Set\u00e4l\u00e4 K, Kaartinen M, Ilveskoski E, H\u00e4m\u00e4l\u00e4inen L, Melin J, K\u00e4rkk\u00e4inen S, Peuhkurinen K, Nieminen MS, Laakso M; the Finhcm Study Group, Kuusisto J. A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy. Ann Med. 2014 Jun 3:1-6<\/bdo>.<\/em><\/p>\n\n\n\n

abstraktista (joka siis kopioidaan ja liitet\u00e4\u00e4n hakuruutuun)<\/p>\n\n\n\n

Background. In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases. Objective. To screen additional mutations, previously identified in eastern Finnish cohorts with HCM, in the FinHCM Study population. Patients and methods. Ten mutations in the beta-myosin heavy chain gene (MYH7), TPM1, and MYBPC3 were screened. Results. MYH7-R1053Q was found in 17 of 306 patients (5.6%). No carriers of MYH7-R719W or N696S were found. A novel TPM1-D175G mutation was found in a single patient. MYBPC3 mutations were found in 14 patients: IVS5-2A-C in two, IVS14-13G-A in two, K811del in six, and A851insT in four patients. Altogether, a HCM-causing mutation was identified in 32 patients, accounting for 10.5% of all cases. In addition, two MYBPC3 variants R326Q and V896M with uncertain pathogenicity were found in eight and in 10 patients, respectively. Conclusion. Combining the present findings with our previous results, a causative mutation was identified in 28% of the FinHCM cohort. MYH7-R1053Q was the third most common mutation, and should be screened in all new cases of HCM in Finland.<\/bdo><\/em><\/p>\n\n\n\n

MeSH on Demand<\/bdo><\/strong> -ty\u00f6kalu poimii MeSH-termeiksi n\u00e4m\u00e4:<\/p>\n\n\n\n