Arch Med Sci
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Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients. More than 900 androgen receptor mutations that can lead to AIS have been identified. ⋯ Patients with partial androgen insensitivity have ambiguous genitalia at birth and gynecomastia during puberty, whereas those with mild androgen insensitivity present a normal male phenotype but altered spermatogenesis during adulthood and pubertal gynecomastia. The diagnosis of AIS often proves to be a challenge; its management is complex and requires a multidisciplinary approach to meet decision-making challenges in sex assignment, fertility and timing of gonadectomy, psychological outcomes and genetic counselling.
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Cardiac rehabilitation is a component of heart failure (HF) management, but its effect on ventricular arrhythmias is not well understood. We analyzed the antiarrhythmic effect of a 9-week hybrid comprehensive telerehabilitation (HCTR) program and its influence on long-term cardiovascular mortality in HF patients taken from the TELEREHabilitation in Heart Failure Patients (TELEREH-HF) trial. ⋯ Significant improvement in physical capacity after 9 weeks of HCTR did not correlate with the antiarrhythmic effect in terms of incidence of nsVT or PVCs ≥ 10. An antiarrhythmic effect after the 9-week HCTR affected long-term cardiovascular mortality in HF patients.
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The function of the C6orf120 gene, which encodes an N-glycosylated protein, remains unknown. The study was performed to characterize the utility of the C6orf120 gene in carbon tetrachloride-induced acute liver injury and to elucidate the potential underlying mechanisms by establishing a C6orf120 gene-knockout (C6orf120-/-) rat model. ⋯ C6orf120-/- rats were susceptible to CCl4-induced liver injury, which may be related to NLRP3 inflammasome and JNK signaling pathway activation.
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More than half of the world's population is infected with Helicobacter pylori, which may cause gastritis, peptic ulcer and even gastric cancer. The World Health Organization (WHO) has announced that H. pylori infection is a class I carcinogen and hence eradication of it is highly important. Bovine milk contains caseins, which can be digested by various enzymes in the human stomach to produce antibacterial peptides. ⋯ This study identified the anti-H. pylori effects of casecidin 17 and β-casein 207-224, which may help in developing therapeutic agents to modulate the effect of antibiotics on H. pylori infections.
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The vacuum-assisted biopsy (VAB) and the Breast Lesion Excision System (BLES) are minimally invasive biopsy techniques, both used as diagnostic and therapeutic tools. The aim of the study is to compare these two methods and assess them in the context of discomfort, early and late complications and their diagnostic and therapeutic potential. ⋯ Since the BLES breast biopsy makes it possible to evaluate the margins, it is a good alternative to the open breast biopsy.