Bratisl Med J
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Risk for developing papillary thyroid carcinoma (PTC), the most common endocrine malignancy, is thought to be mediated by lifestyle, environmental exposures and genetic factors. Recent progress in the genome-wide association studies of thyroid cancer leads to the identification of several genetic variants conferring risk to this malignancy across different ethnicities. ⋯ These results indicate that germline variants not only predispose to PTC, but may also be related to other risk factors, including associated diseases. However, these associations were only moderate, and further multi-ethnic studies are required to evaluate the usefulness of these germline variants in the clinical stratification of PTC patients (Tab. 8, Ref. 37).
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This study was aimed to investigate the relationship of miR-17-5p, miR-30b, miR-30d, miR-216a and miR-216b associated with autophagy gene beclin 1, and beclin 1 gene with colorectal cancer (CRC). ⋯ The beclin 1 gene may play a role as a tumor suppressor in CRC. Moreover, these miRNAs cannot be used as highly reliable biomarkers in serum for CRC diagnosis (Tab. 2, Fig. 6, Ref. 46).
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Pontocerebellar hypoplasia type 1 (PCH1) is characterized by a central and peripheral motor dysfunction associated with anterior horn cell degeneration, similar to spinal muscular atrophy (SMA). ⋯ This EXOSC3 variant is rare among the general population but most likely frequent also among Roma people in Slovakia. PCH1B should be considered for a differential diagnosis in infants manifesting SMA-like phenotype, especially if of Roma origin (Tab. 1, Fig. 1, Ref. 22). Text in PDF www.elis.sk Keywords: pontocerebellar hypoplasia, PCH1B, EXOSC3, SMA plus syndromes, pathogenic sequence variant.
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To explore the efficacy and safety of bilateral thoracoscopic cardiac sympathetic denervation (BTCSD) as an underutilised last‑resort surgical technique for patients with ventricular tachyarrhythmias and electrical storm non-responsive to other treatment. ⋯ Our experience showed that BTCSD is a safe and feasible technique with a low complication rate and promising results. The limitation of this paper is the low number of patients in our group (Tab. 1, Fig. 3, Ref. 25).
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Widespread and prolonged therapy with ganciclovir (GCV) may result in the emergence of GCV-resistant mutations in human cytomegalovirus (HCMV) genome. The aim of this study was to detect the UL97 mutations associated with GCV resistance in kidney transplant recipients. ⋯ Our results indicate that mutations in the UL97 gene associated with GCV resistance may occur in 1 in 25 recipients treated with GCV. In addition, a higher mutation rate of D605E was detected in our recipients. This study provides the first evidence of the prevalence and pattern of GCV related mutations in Iranian Turkish recipients (Tab. 2, Fig. 1, Ref. 28).