Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing (WES). Patients with clinical suspicion of CKD were included in the study. Molecular genetic analyses were performed on genomic DNA by using WES. A total of 15 with 5 different pathogenic or likely pathogenic variants were identified in CKD patients, with a diagnostic rate of 30%. Eight variants of uncertain significance were also detected. In this study, 10 variants were described for the first time. As a result, we detected variants associated with CKD in our study population and found AS as the most common CKD after other related kidney diseases. Our results suggest that in heterogeneous diseases such as CKD, WES analysis enables accurate identification of underlying molecular defects promptly. Although CKD accounts for 10–14% of all renal dysfunction, molecular genetic diagnosis is necessary for optimal long-term treatment, prognosis, and effective genetic counseling.

The identification of novel non-invasive biomarkers is imperative for the early diagnosis and monitoring of malignant melanoma. The objective of this study is to examine the expression levels of miR-155-5p, miR-181b-5p, and miR-454-3p in circulating cell-free RNA obtained from plasma samples of the 72 uveal malignant melanoma patients and to compare these levels with those of 72 healthy controls. The analysis showed that the expression level of the miR-181b-5p has increased 9.25 fold, and expression level of miR-155-5p has increased 6.67 fold, and miR-454-3p expression level has increased 4.14 fold in the patient group compared with the levels in the healthy control group (p = 0.005). It was found that the high expression levels of the three miRNAs were statistically significant in patients compared with in the healthy control group. The statistical evaluations between miRNA expression levels and clinical data showed that miR-155-5p had significant association with radiation therapy (p = 0.040), and miR-454-3p showed a significant association with smoking and alcohol use respectively (p = 0.009, and p = 0.026). The significantly elevated expression levels of miR-181b-5p, miR-155-5p, and miR-454-3p in the circulating cell-free RNA of plasma from uveal melanoma patients, in comparison to those in the healthy control group, suggest the potential usefulness of these biomarkers for both early diagnosis and disease monitoring. However, more extensive and future studies are needed to use these molecules in early diagnosis and disease monitoring.

Background/Objectives: Oleuropein is a bioactive phenolic compound from olive leaves with antimicrobial and antioxidant activity. This study aimed to develop a sprayable oral gel containing an oleuropein-rich aqueous extract and to evaluate its pharmaceutical performance antimicrobial efficacy and in ovo biological response. Methods: Oleuropein content was quantified using a validated chromatographic method. Polymeric systems were screened to select an optimized sprayable formulation. Physicochemical stability, dose uniformity, and antimicrobial activity against major cariogenic bacteria were evaluated. In ovo biological evaluation was conducted using the chick chorioallantoic membrane angiogenesis model together with histopathological examination of embryonic heart and liver tissues. Results: Oleuropein content was determined as 288.6 µg/mL in the olive leaf extract and 255.1 µg/mL in the final formulation. The optimized oral spray showed stable physicochemical properties, with pH maintained at 6.90 ± 0.02 and no relevant changes in viscosity during storage. The mean delivered dose per actuation was 0.128 ± 0.015 g, corresponding to 32.6 µg oleuropein per spray. The formulation exhibited inhibitory activity against all tested cariogenic microorganisms, with MIC values ranging from 13.3 to 170.7 µg/mL and MBC values generally two-fold higher. In the CAM assay, significant concentration- and time-dependent antiangiogenic effects were observed after 24–48 h at moderate and higher concentrations. Histopathological evaluation revealed dose-dependent acute degenerative and congestive changes in heart and liver tissues without evidence of fibrosis or steatosis. Conclusions: The oleuropein-based sprayable oral gel is a promising localized delivery system with adequate stability dose uniformity and antimicrobial efficacy. In ovo findings provide a conservative assessment of systemic exposure and support further development for oral biofilm and caries-related applications.

Ultraviolet (UV)-induced oxidative stress is a major cause of skin photoaging, prompting interest in multifunctional antioxidants of marine origin for topical photoprotection. Astaxanthin, a xanthophyll carotenoid predominantly obtained from the microalga Haematococcus pluvialis, exhibits antioxidant, anti-inflammatory, and matrix-metalloproteinase (MMP)-modulating activities relevant to skin protection. This study aimed to formulate and systematically characterize oil-in-water (O/W) sunscreen emulsions containing 1%, 2.5%, and 5% (w/w) natural astaxanthin-containing extract (AstaReal^® P4AF), in combination with an inorganic titanium dioxide (TiO₂) UV filter, and to evaluate the influence of astaxanthin concentration on formulation performance and biological tolerability. Formulations were characterized in terms of viscosity, antioxidant activity using the 2,2-diphenyl-1-picrylhydrazyl (DPPH) assay, mechanical and adhesive performance using back-extrusion and adhesion tests, in vitro sun protection factor (SPF), UVA protection, water resistance (WR), and local tissue tolerability using the in ovo chorioallantoic membrane (CAM) model. Viscosity increased with AstaReal^® P4AF concentration at both temperatures (from 3801.9 to 5704.6 mPa·s at 25 °C, and from 1931.8 to 5118.9 mPa s at 36 °C), with the 5% AstaReal^® P4AF formulation showing the greatest thermal stability. DPPH radical scavenging activity increased markedly with AstaReal^® P4AF concentration up to 2.5% (33.15% at 1% and 63.04% at 2.5%) and remained comparable at 5% (62.62%), versus 22.05% for the placebo formulation. Back-extrusion analysis revealed a non-linear, concentration-dependent effect on consistency and firmness, peaking at 2.5% AstaReal^® P4AF, while adhesion parameters remained statistically unaffected across concentrations. SPF and UVA protection factor decreased with increasing AstaReal^® P4AF concentration (74.37 to 35.02 and 37.62 to 19.78, respectively), whereas WR was improved at the highest concentration. CAM histopathological scoring indicated that AstaReal^® P4AF incorporation did not increase tissue injury relative to the formulation base. These findings indicate that AstaReal^® P4AF concentration critically influences the physicochemical and photoprotective balance of sunscreen emulsions, supporting further optimization toward a multifunctional, marine-derived ingredient.

The study aims to evaluate the significance of ARID1A expression in gastric cancer (GC) patients receiving neoadjuvant therapy, using immunohistochemical methods and bioinformatics approaches. Immunohistochemical analysis of an institutional clinical cohort (n = 80) was combined with bioinformatics analyses of independent public datasets. RNA-sequencing and clinical data from the TCGA-STAD cohort were retrieved and processed using TCGAbiolinks, differential expression analysis was performed using DESeq2, and overall survival (OS) was evaluated using Kaplan-Meier, log-rank, and univariate Cox regression analyses. STRING was used to construct an ARID1A-centered protein association network, while Human Protein Atlas and Cellosaurus data were used to evaluate ARID1A expression. Loss of ARID1A protein expression rate was 41.3%. ARID1A loss and larger tumor size were correlated (median 6.0 cm vs. 4.0 cm; p = 0.004). ARID1A status and histopathological response to neoadjuvant therapy, pathological tumor stage and OS are not statistically related. Bioinformatics analyses demonstrated marked variation in ARID1A expression across GC cell lines, while TCGA-STAD analyses showed no significant tumor-normal difference or survival association at the transcript level. While ARID1A loss is associated with increased tumor size, it is not a strong independent predictor of treatment response or OS in GC. These findings underscore the molecular complexity of gastric adenocarcinoma and the need for larger, multicenter studies to refine the clinical utility of ARID1A.

Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive skeletal dysplasia caused by biallelic loss-of-function FLNB variants, which include nonsense, frameshift, canonical splice-site, and structural alleles. We report a girl aged 6 years 8 months, born to first-cousin parents, with disproportionate short stature and progressive scoliosis, evaluated clinically, radiologically and by exome sequencing. Two rare FLNB variants were identified: the canonical splice-donor variant NM_001457.4:c.4514+1G>C and the missense variant c.6635C>T p.(Ala2212Val). Sanger sequencing showed the proband to be homozygous and each parent heterozygous for both, so the two variants lie 21,859 bp apart on one ancestral haplotype inherited from both parents. The splice-donor variant was classified as pathogenic and accounts for the phenotype. Because the missense variant is carried on the same haplotype, allelic (PM3) and phenotypic (PP4) evidence cannot be attributed to it independently, and it remains of uncertain significance; structural modelling of the buried residue Ala2212 is not functional evidence. Imaging showed multilevel vertebral and posterior-element fusion, carpal and tarsal coalition, and a major curve that progressed from 14 to 35 degrees in twelve months. In consanguineous families, homozygosity for two rare variants in one gene reflects a single haplotype, and neither variant can be credited independently.