The associations between serum vaspin levels and metabolic or coronary artery disease (CAD) and polycystic ovary syndrome (PCOS) is under the scope of current researchers. Therefore, this adipokine can be considered as a biomarker of metabolic syndrome (MetS). The aim of the study was to analyze the associations between the vaspin rs2236242 polymorphism and physical activity in relation to MetS and its components. The analysis involved the genetic material and clinical data of 108 individuals with MetS and 110 controls. Vaspin rs2236242 polymorphism was detected using the tetra-primer amplification-refractory mutation system polymerase chain reaction (T-ARMS PCR) method. The TA genotype of vaspin rs2236242 was associated with a greater risk of MetS and its components compared with the TT genotype. The analysis of interactions between genotype and walking time revealed that a walking time longer than 60 min./day significantly decreased the risk of MetS in the TA carriers (p = 0.007). The obtained results suggest that any unfavorable effect of the TA genotype of the vaspin rs2236242 polymorphism can be essentially reduced, or even reversed, in a case of individuals walking longer than 60 min. a day. The analysis of the interaction between vaspin rs2236242 polymorphism and walking showed that a walking time of longer than 1 hour a day significantly reduced the risk of MetS, elevated blood pressure and triglycerides concentration.

Background. At present, EC staging is based on the WHO conservative criteria, which only consider the percentage of gland formation. The molecular subgrouping of EC recently proposed by the Cancer Genome Atlas (TCGA) represents a milestone in precise molecular-based patient triage. The present study aimed to investigate the influence of FGFR-2 on the epithelial–mesenchymal transition (EMT) and whether it can lead to endometrial cancer dedifferentiation. Methods. One hundred and three White female patients with confirmed EC were enrolled in our research. For the analysis, we performed next-generation sequencing and immunohistochemical analyses of E-cadherin, β-catenin, and vimentin. Results. Tumor grade progression was closely correlated with LVI (p = 0.0338), expression of vimentin (p = 0.000), tumor budding (p = 0.000), and lack of E-cadherin (p = 0.0028). Similar observations were noted with regard to TNM/FIGO stage progression. In terms of FGFR-2 mutation, we found the following correlation p-values: LVI (p = 0.069), expression of vimentin (p = 0.000), tumor budding (p = 0.000), and lack of E-cadherin (p = 0.000), RFS (p = 0.032), ECSS (p = 0.047). Conclusions. FGFR-2 is the important factor influencing on EMT.

Cholecystolithiasis is among the most prevalent gastrointestinal disorders requiring surgical intervention, and iatrogenic damage to the bile tree is a severe complication. We aimed to present the frequency of bile duct injuries and how our facility handles these complications. We retrospectively analyzed bile duct injuries in patients undergoing surgery. We concentrated on factors such as sex, age, indications for surgery, type of surgery, primary procedure, bile tree injury, repair, and timing as well as early and late complications. There were 22 cases of bile duct injury in the studied material, primarily affecting women—15 individuals (68.2%). Eleven cases (45.7%) of acute cholecystitis were the primary reason for surgery, and an injury to the common bile duct that extended up to 2 cm from the common hepatic duct was the most common complication (European Association for Endoscopic Surgery grade 2). Roux-en-Y hepaticojejunostomy was the most common repair procedure in 14 cases (63.6%). Eleven patients (50%) experienced early complications following reconstruction surgery, whereas five patients (22.7%) experienced late complications. An annual mortality rate of 22.7% (five patients) was observed. Iatrogenic bile duct injury is a severe complication of surgical treatment for cholecystolithiasis. Reconstruction procedures are characterized by high complication rates and high mortality.

The morbidity and mortality caused by endometrial cancer (EC) is still rising worldwide. In recent years, a new system of tumor stratification has been proposed based on POLE-mutational status, TP53, and microsatellite stability status. The aim of the study was to analyze a vast panel on the genes potentially involved in the genesis of endometrial cancer in the Polish population. One hundred and three white female patients with confirmed endometrial cancer were enrolled on the study. We performed sequencing using the Hot Spot Illumina panel and microsatellite stability with immunohistochemistry. We confirmed a key role of the TP53 mutation in progress to high-grade EC and parallelly some role of FGFR2 mutation. Moreover, our data present a vast landscape of mutations in EC and their polymorphism. We reported the meaning of FGFR2 mutation and TP53 (high copy number) in high-grade ECs. Our observation in MSI contribution is comparable with other studies. Finally, we see a strong need for the implementation of the TCGA classification.

Acute pancreatitis (AP) is a common and potentially lethal disease. Over the last 10 years, AP has become one of the most important healthcare problems. On a global scale, the incidence has increased by 63% over the last 20 years. AP is usually caused by gallstones and excessive alcohol consumption and genetic factors play an important role in the development of inflammation. Recent studies involving the CPA1 mutations are ambiguous and dependent on the population studied. In this study, the variability of the CPA1 gene in patients with AP was analyzed. Genetic material was isolated from the blood of 301 patients with AP and 184 healthy individuals. Identification of the variants in exons 5, 6, 8, and 9 with introns was performed using molecular biology methods. Mutations were identified by comparison to the reference sequence (NM_001868.4). Statistical analysis included the identification of mutations correlating with the risk of AP, the etiology of inflammation, and family history. Several novel mutations in the CPA1 gene have been identified, along with a high degree of variability within the coding region of the carboxypeptidase gene. A correlation between mutations CPA1:c.1072 + 84del; c.987 + 57G>A and increased risk of developing AP was found. Two protective mutations, CPA1:c.625A>T, c.1072 + 94del, were identified. The CPA1 gene is characterized by high sequence variability and regions in which mutations lead to an increased risk of developing AP. Single or co-occurring mutations of the CPA1 gene can significantly affect the risk of developing AP.

Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition with a complex genetic architecture. Dissecting the interplay between inherited variants and high-impact de novo variants is critical for understanding its etiology. We conducted a family-based study involving 42 families with ASD (139 individuals). Using a targeted next-generation sequencing (NGS) panel of 236 genes, we identified and characterized rare inherited and de novo variants in affected probands, parents, and unaffected siblings. Our analysis revealed a complex genetic landscape marked by diverse inheritance patterns. De novo variants were predominantly observed in individuals with atypical autism, while biparental (homozygous) inheritance was more common in Asperger syndrome. Maternally inherited variants showed significant enrichment in intronic regions, pointing to a potential regulatory role. We also detected variants in several high-confidence ASD risk genes, including SHANK3, MYT1L, MCPH1, NIPBL, and TSC2, converging on pathways central to synaptic function and neurogenesis. Across the cohort, five variants of uncertain significance (VUS) were identified, comprising two inherited variants in ABCC8 and additional variants in CUL23, TSC2, and MCPH1. Our findings underscore the profound genetic heterogeneity of ASD and suggest that distinct genetic mechanisms and inheritance patterns may contribute to different clinical presentations within the spectrum. This highlights the power of family-based genomic analyses in elucidating the complex interplay of inherited and de novo variants that underlies ASD.