BackgroundPolymorphisms of vitamin D receptor (VDR) contribute to the pathogenesis of multiple autoimmune conditions.MethodsWe investigated the incidence of VDR polymorphisms (rs1544410-BsmI; rs7975232-ApaI; rs731236-TaqI) in a group of patients with primary sclerosing cholangitis (PSC, n = 275) and in healthy controls (n = 376). Additionally, correlations of the VDR polymorphisms with clinical and biochemical factors of the disease were analysed.ResultsThe genotype and allele distributions of these polymorphisms in PSC patients were similar to those observed in controls. However, the ApaI polymorphism was associated with an impaired health-related quality of life (HRQoL). The generic SF-36 questionnaire showed that the Role-Physical (p = 0.01), Role-Emotional (p = 0.01), Physical Component Summary (p = 0.01) and Mental Component Summary (p = 0.003) scores were significantly affected. Similarly, the disease-specific questionnaires, PBC-40 and PBC-27, demonstrated that carriers of the C allele suffered from more severe Itch (p = 0.03 assessed by PBC-40 and PBC-27), more Fatigue (p = 0.02 assessed by PBC-40 and PBC-27) and Impaired Cognitive Capacity (p = 0.04 and p = 0.03). Correspondingly, individuals who were AA homozygotes (non-carriers of the C allele of ApaI) had higher summary scores for the Physical (p = 0.01) and Mental Components (p = 0.006) measured with SF-36. Moreover, they experienced less itch (p = 0.03) and less Fatigue (p = 0.03) and had better Cognitive Abilities (p = 0.04) as assessed by the PBC-40 and PBC-27 questionnaires. No associations between other VDR polymorphisms and clinical or laboratory findings were made.ConclusionIn summary, this study is the first to show that the ApaI polymorphisms in VDR may exert an effect on disease-related symptoms and quality of life in patients with PSC.

We describe here the current up-to-date standard of bone marrow harvest, which leads to excellent results in majority of donors without causing significant complications during the donation.

Introduction: Acute appendicitis (AA) is one of the most common causes of urgent admission to the hospital. Clinically applicable classification distinguishes simple and complex inflammation. Among commonly used inflammation markers of AA, bilirubin concentration is not well studied and thus is rarely applied. Aim: To examine the association between increased serum total bilirubin concentration and the severity of AA. Material and methods: This retrospective study included 169 patients with a presumptive diagnosis of AA who were operated upon between 2015 and 2017. The determined study endpoints were simple complex inflammation and a different diagnosis after surgery. The Mann-Whitney U, Kruskal-Wallis, Fisher's exact, Spearman correlation coefficient and logistic regression tests and receiver-operating characteristics (ROC) were used in analyses. The area under the curve (AUC) was presented with 95% confidence intervals (95% CIs). Statistical significance was set at 0.05. Results: In total, 84 (49.7%) patients underwent laparotomy and 85 (50.3%) laparoscopy. After surgery, 45 (26.6%) patients had a diagnosis other than AA. Furthermore, 83 (49.1%) and 41 (24.3%) patients had simple and complex AA, respectively. The median bilirubin concentration was 0.56, 0.69, and 1.08 mg/dl in patients without AA, with simple, and complex AA, respectively (p < 0.01). The optimal cutoff for serum bilirubin concentration to predict AA severity was ≥ 0.94 mg/dl (AUC = 0.652; 95% CI: 0.543-0.761) with a 44.9% positive and 83.9% negative predictive value (p = 0.006). Conclusions: The serum bilirubin concentration should be considered as one of the possible markers of AA. Moreover, it can be used to predict the severity of AA.