Dilated cardiomyopathy (DCM) is a multifactorial disease characterized by left ventricular dilation that is associated with systolic dysfunction and increased action potential duration. The Kir2.x K⁺ channels (encoded by KCNJ genes) regulate the inward rectifier current (IK1) contributing to the final repolarization in cardiac muscle. Here, we describe the transitions in the gene expression profiles of 4 KCNJ genes from healthy or dilated cardiomyopathic human hearts. In the healthy adult ventricles, KCNJ2, KCNJ12, and KCNJ4 (Kir2.1-2.3, respectively) genes were expressed at high levels, while expression of the KCNJ14 (Kir2.4) gene was low. In DCM ventricles, the levels of Kir2.1 and Kir2.3 were upregulated, but those of Kir2.2 channels were downregulated. Additionally, the expression of the DLG1 gene coding for the synapse-associated protein 97 (SAP97) anchoring molecule exhibited a 2-fold decline with increasing age in normal hearts, and it was robustly downregulated in young DCM patients. These adaptations could offer a new aspect for the explanation of the generally observed physiological and molecular alterations found in DCM.
Background Acral lentiginous melanoma (ALM) occurs on the palms, soles and subungual surface and has poor prognosis. It is uncommon in the Caucasian population and has remained unreported in East‐Central Europe. Objectives Our aim was to collect data from East‐Central Europe by analysing the demographic and clinicopathologic features of patients with ALM and comparing data with the reports in literature. Methods We conducted a single‐centre, retrospective review between 1976 and 2016 at one of the largest melanoma referral centres in Hungary. Results We identified 176 patients with ALM (3.83%) from 4593 patients with melanoma (mean age: 66.2 years). The tumours were mainly located on the lower extremities (88.63%). The mean Breslow tumour thickness was 3.861 mm, 37.50% of the tumours were thicker than 4.00 mm, and 71.6% exhibited microscopic ulceration. Nearly one‐third of the patients underwent sentinel lymph node (SLN) biopsy, and 60.3% of the biopsies were positive for metastasis. The positive SLN status was associated with significantly thick tumours and reduced survival. Patients with ALM had 5‐ and 10‐year overall survival rates of 60.5% and 41.6%, respectively. The mean delay in diagnosis was 18 months after the discovery of skin tumours. In multivariate analyses, age, tumour thickness and distant metastasis were independent risk factors for poor survival (P < 0.001). Conclusions Our study, which is the first single‐centre report in East‐Central Europe focusing on ALM, confirms that patient and tumour characteristics and prognostic factors are similar with previous literature data involving Caucasians; however, tumour thickness and survival suggest even worse prognosis.
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Bevezetés és célkitűzés:A melanoma malignum igen agresszív, sokszor kiszámíthatatlan kórlefolyású daganat. Vizsgála-tunk során arra kerestünk választ, hogy milyen tényezők befolyásolják a betegség korai felismerését. Módszer: 139 melanomával diagnosztizált beteg kérdőíveit elemeztük. Eredmények: Megállapítottuk, hogy betegeink a cardiovascularis betegségek terén egészségtudatosak, daganatok miatt végzett szűrővizsgálatokon behívásra részt vesznek, azonban melanomával kapcsolatos ismereteik hiányosak. Önvizsgálatot a betegek nagy része végez, de nem tudják mit kell figyelni a bőrön. A melanomát általában maguk a betegek észlelik először, azonban sokszor több mint egy év telik el, míg orvoshoz fordulnak. A korai felismerést egyértelműen befolyásoló tényezőként a betegek attitűdjét azonosítottuk. Akik számára fontos a gyanús bőrelváltozások figyelése, azoknál korai stádiumban kerül felismerésre a melanoma. Megállapítottuk továbbá, hogy a betegek levetkőztetése és a bőrrák prevenciójával kapcsolatos kommunikáció nem része a rutin egészségügyi ellátásnak. Következtetések: Fontos a népesség és az egészségügyi személyzet melanomával kapcsolatos ismereteinek bővítése és annak a tudatosítása, hogy a korai felismerés életet menthet. Kulcsszavak: melanoma malignum, korai felismerés, prevenció Factors influencing early detection of malignant melanomaIntroduction and aim: Melanoma is a highly aggressive tumour with often unpredictable outcome. Our aim with this study was to determine factors influencing early detection of melanoma. Method: We analyzed 139 questionnaires completed by patients diagnosed with melanoma. Results: We found that our patients are health-conscious regarding cardiovascular diseases and attend cancer screenings on recall. However, their knowledge about melanoma is insufficient. Most of them perform skin self-examination, but they do not know what to check. Melanoma is detected mostly by the patients themselves, but it takes more than one year to consult a doctor. Our study confirmed that patients' attitude toward melanoma is an important factor influencing early detection. We found that physical examination and communication about skin cancer prevention is not part of the routine medical care. Conclusions: It is important to improve knowledge about melanoma among the general population and health care providers and to emphasize that early detection can save lives.
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