👤 W Sikora

Bladder cancer continues to represent a considerable global health burden, characterized by increasing incidence and mortality rates. Despite its prevalence as one of the most common urological malignancies, diagnosis remains challenging due to the scarcity of dependable, non-invasive biomarkers. Consequently, the imperative to identify novel biomarkers for effective diagnosis becomes evident. This study included 101 hospital patients, whose were stratified according to biopsy-confirmed histopathological diagnosis into the bladder cancer group (n=69) and the non-cancer group (n=32). Serum angiopoietin-like 4 (ANGPTL4) concentrations were quantified using an enzyme-linked immunosorbent assay (ELISA). Significantly lower serum ANGPTL4 levels (approximately 28% lower) were observed in the bladder cancer cohort compared to the non-cancer group (p=0.043). The optimal cut-off value was 16.95 ng/ml, yielding a sensitivity of 74% and a specificity of 53%. The Youden Index was established at 0.2704. The presented findings indicate that ANGPTL4 poorly differentiates patients with bladder cancer from non-cancer patients. Show less

Small ruminant lentivirus (SRLV) infections occur worldwide in goats and sheep and have negative impact on the production and welfare of animals. During recent years, many studies have focused on the host factors that determine the resistance of individual animals to SRLV infection; consideration of such factors would be an alternative to current control programmes based on culling seropositive animals. The aim of this study was to analyse the relationship between the expression of two previously selected goat genes, Primary fibroblast cultures obtained from the skin of goats with high SRLV proviral DNA load (HPL), low proviral load (LPL) or free of infection were inoculated with the A5 SRLV subtype circulating in the flock. The course of infection was observed based on cytopathic changes in cell cultures and the presence of SRLV A5 RNA, of which the level was monitored using a quantitative reverse-transcription PCR. The relative expression of the selected host genes following SRLV infection was analysed. The kinetics of SRLV replication differed, and distinctly higher numbers of SRLV particles were detected in cells derived from the HPL animal. The expression profiles of The observed relationship between expression of Show less

Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to have autosomal dominant medullary amyloidosis due to two different pathogenic APOA4 variants. A large family with autosomal dominant chronic kidney disease (CKD) and bland urinary sediment underwent whole genome sequencing with identification of a chr11:116692578 G>C (hg19) variant encoding the missense mutation p.L66V of the ApoA4 protein. We identified two other distantly related families from our registry with the same variant and two other distantly related families with a chr11:116693454 C>T (hg19) variant encoding the missense mutation p.D33N. Both mutations are unique to affected families, evolutionarily conserved and predicted to expand the amyloidogenic hotspot in the ApoA4 structure. Clinically affected individuals suffered from CKD with a bland urinary sediment and a mean age for kidney failure of 64.5 years. Genotyping identified 48 genetically affected individuals; 44 individuals had an estimated glomerular filtration rate (eGFR) under 60 ml/min/1.73 m Show less

The urea cycle disorder carbamoyl phosphate synthetase I deficiency is an important differential diagnosis in the encephalopathic neonate. This intoxication type inborn error of metabolism often leads to neonatal death or severe and irreversible damage of the central nervous system, even despite appropriate treatment. Timely diagnosis is crucial, but can be difficult on routine metabolite level. Here, we report ten neonates from eight families (finally) diagnosed with CPS1 deficiency at three tertiary metabolic centres. In seven of them the laboratory findings were dominated by significantly elevated urinary 3-methylglutaconic acid levels which complicated the diagnostic process. Our findings are both important for the differential diagnosis of patients with urea cycle disorders and also broaden the differential diagnosis of hyperammonemia associated with 3-methylglutaconic aciduria, which was earlier only reported in TMEM70 and SERAC1 defect. Show less