Arch Med Sci
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The FMR1 gene plays an important role in brain development and in the regulation of ovarian function. The FMR1 gene contains CGG repeat variation and the expansion of the repeats is associated with various phenotypes e.g. fragile X syndrome, premature ovarian failure, etc. Repeats ranging < 55 CGG are considered normal, however recent studies suggest that high-normal (35-54 CGG) and low-normal (< 26 CGG) alleles may also have an impact on female reproductive function. ⋯ In our study, the FMR1 gene high-normal alleles were associated with secondary infertility. However, to address the controversies related to the role of FMR1 genes in the development of diminished ovarian reserve, further studies on the subject are required.
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In this study, we aimed to distinguish differences in the procedural complication rate in a group of patients undergoing percutaneous coronary interventions (PCI) of the left main coronary artery (LMCA) between patients with isolated LMCA disease and multi-vessel disease (MVD) with LMCA involvement and to identify their predictors. ⋯ The MVD involvement in patients treated with PCI of the LMCA may play a protective role. Patients with isolated LMCA involvement undergoing PCI should be subjected to special care and protected by various methods, such as devices to support left ventricle function.
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Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide. Despite the therapeutic advances in HCC in the past few decades, the mortality rate of HCC is still high. Hepatitis C (HCV) infection is one of the major etiological risk factors of HCCs. However, the underlying mechanisms of HCV-induced hepatocarcinogenesis remain largely unclear. ⋯ We believe that this study can provide novel potential therapeutic and prognostic biomarkers for HCV-positive HCC.
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Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient's oriented longitudinal care. Neurofibromatosis type 1 is one of the most common single gene disorders in the global population, observed in 1 out of 2500-3000 live births. It is a primary neoplasia disease with 100% penetration of the gene mutation but remarkable age-dependent onset of different disease signs and symptoms, outstanding clinical heterogeneity between patients even in one family and lack of genotype-phenotype correlation, a high rate of spontaneous mutation exceeding 50%, and multiple comorbidities among which increased risk of malignancy is the most important. Medical practice proved that not only patient-oriented complex but also coordinated care provided in centers of competence is indispensable for patients and the families and provides a sense of medical security to them in conjunction with public health costs rationalization.
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Unprovoked pulmonary embolism (UPE) is not rare and it is associated with an unfavorable prognosis in adults. However, the incidence and the prognosis of UPE in older adults have never been studied. ⋯ UPE is not rare in older adults with PE, and it is associated with a favorable prognosis within 1 year of admission in this population.