Bratisl Med J
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The aim of our study is to demonstrate a causal link between two distinct diagnoses, the hereditary hearing loss, and the sudden sensorineural hearing loss. ⋯ Our finding extends the knowledge on phenotype variability in GJB2 variants. We suggest considering genetic testing in pediatric cases of bilateral sudden sensorineural hearing loss (Tab. 1, Fig. 4, Ref. 24).
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X-ray repair cross-complementing group 1 (XRCC1) is a scaffold protein and a key element in DNA base excision repair process. Although, the role of XRCC1 polymorphisms in male infertility has been studied broadly, it is still a matter of debate. Hence, in order to shed light on the problem, we performed a meta-analysis to evaluate the overall effect of XRCC1 polymorphisms in male infertility risk. Databases, Web of Science, PubMed, Scopus, and Google Scholar were searched until September 15, 2018. ⋯ This is the first meta-analysis to investigate the association of XRCC1 polymorphisms (codon 399) and male infertility risk. Our results indicated that the XRCC1 Arg399Gln polymorphism was not associated with male infertility risk in the total studied populations (Tab. 2, Fig. 3, Ref. 26). Keywords: meta-analysis; male infertility; polymorphism; XRCC1 Arg399Gln.
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Multiple sclerosis is a chronic inflammatory and autoimmune demyelinating disease of the brain and spinal cord. Vitamin D has anti-inflammatory and anti-Th1, Th17 activities, activates the function of regulatory T cells, shifts the immune response towards Th2, so it might be favorable for downregulation of the disease pathogenesis, and if inflammation and Th1 and Th17 immunity are hyperactivated. The aim of our study was to highlight the role of vitamin D in multiple sclerosis pathogenesis. ⋯ Our result showed that vitamin D deficiency plays a role in multiple sclerosis pathogenesis. We believe that administration of vitamin D to patients at a sufficient dose providing a physiological level of vitamin D could have a positive effect on the course of the disease. However, regular monitoring of vitamin D levels is required, which should be at least within 30-75 ng/mL, and even more, but below the toxicity limit (Tab. 6, Ref. 66).
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Tamoxifen engages mitochondrial estrogen receptor beta as an antagonist, increases mitochondrial cytotoxicity and induces tumor cell death. Tamoxifen also engages plasma membrane estrogen receptor alpha as an agonist, while it is suggested that in some users its activation is put into action by mechanism of resistance to tamoxifen. Apoptotic inducers have been shown to promote tamoxifen-induced cell death, which might be of great importance in overcoming tamoxifen resistance. Considering the pleiotropic effects of statins, in the present study, we investigated the effects of atorvastatin on tamoxifen-induced intrinsic apoptotic pathway activity in melanoma cells. ⋯ In general, we conclude that the atorvastatin-induced increase in Bax and cytochrome c gene expression might be a permissive response to tamoxifen-induced cell death (Fig. 2, Ref. 37).
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Eagle's syndrome is a rare condition caused by the elongation of the styloid process (> 4 cm) or calcification of the stylohyoid ligament. Patients with Eagle's syndrome typically present various clinical symptoms, such as headache, facial pain, neck pain, pulsating pain, sore throat, foreign body sensation, dysphagia, dysphonia, cough, voice changes, otalgia or vertigo. 3D printing refers to processes in which successive layers of material are formed from 3D computer tomography data to synthesize a three-dimensional object. This new diagnostic technique of rapid prototyping technology led to innovative new applications in biomedicine. ⋯ Eagle's syndrome is difficult to diagnose due to its wide variability in symptoms. The inherent accuracy and other properties of 3D printing have allowed it to have exciting applications in anatomy education and surgery, with great benefit to the maxillofacial surgery. With the assistance of 3D technology, it is much easier for the surgeon to plan the surgical approach and the surgery, and significantly reduce the operation time (Fig. 3, Ref. 22).