GABA-A receptor genes do not play a role in genetics of Lesch's typology in Caucasian subjects

Lesch's typology differentiates alcoholics into different treatment response subgroups. The effects of ethanol are mediated, to an important extent, via the GABA-ergic system. We have evaluated the linkage disequilibrium patterns and haplotype frequencies of GABRG1 and GABRA2 genes in 133 alcoholics divided according to Lesch's typology and in 145 matched controls. Besides several relationships at a threshold of statistical significance, we found no significant differences in the haplotype distribution of these genes between alcoholics and controls. Lesch's typology may not be related with the genotype of alcoholics – at least in terms of genes with an established role in the development of dependency

Medullary thyroid carcinoma of unknown primary origin with synchronous finding of papillary thyroid carcinoma

Not required for Clinical Vignette

Isoprostanes as potential cerebral vasospasm biomarkers

Despite enormous progress in medicine, symptomatic cerebral vasospasm (CVS), remains an unexplained clinical problem, which leaves both physicians and patients helpless and relying on chance, due to the lack of specific marker indicative of imminent danger as well as the lack of specific treatment. In our opinion CVS occurrence depends on dynamic disbalance between free radicals' formation (oxidative stress) and antioxidant activity. Isoprostanes are products of free-radical peroxidation of polyunsaturated fatty acids, and seem to mark a promising path for the research aiming to unravel its possible mechanism. Not only are they the biomarkers of oxidative stress in vivo and in vitro, but also have manifold biological effects (including vasoactive, inflammatory and mitogenic) via activation of the thromboxane A2 receptor (TBXA2R), both in physiological and pathophysiological processes. This review addresses the importance of isoprostanes in CVS in quest of appropriate biomarkers

New technologies in the surgical treatment of wounds

Introduction: Many wounds are treated surgically. For many years the method itself consisted mainly in cleaning the wounds and bringing its edges closer together, either by  strips for closing the wounds or by suturing the wound with classic sutures or staples. Recently, new methods have emerged to support wound healing, which are discussed in this article. Materials and methods: The basis of the work were medical articles collected in the PubMed database. The research was conducted by analyzing key words such as: "surgical treatment of wounds", "new technologies in wounds", "wound healing and new technologies", "dressings in wound treatment", "new methods of accelerating wound healing". Results: In the process of surgical wound treatment the basis is still the closure and connection of the edges of the wounds, which prevents infections, accelerates healing and improves the cosmetic effect. However this is not the final stage of wound healing. Equally important is the subsequent appropriate selection of the dressing - appropriate in terms of its composition of active substances and absorption properties. The choice of the right dressing has a large impact on the final effect and the avoidance of infections or the subsequent appearance of the scar. Now we also have many new technologies to help heal wounds. They help not only to reduce the risk of infection, but also accelerate the healing process and shorten the treatment time

Venous malformations in children - a literature review

Introduction: Venous malformations are congenital, the most occurring subtype of vascular malformations. They are characterized by slow flow, tortuosity and lack of macular layer within the vessel. Venous malformations can be highly problematic to diagnose and treat, thus differentiation the venous malformations with other diseases in pediatric population is important.   Aim of the study: The aim of the study is to summarize the available knowledge about venous malformation in pediatric population. The options in diagnosis, treatment and potential new methods were summarized and described. Materials and methods The literature available in the PubMed database was reviewed using the following keywords: “Vascular malformations”, “Venous Malformations”, “Venous malformations treatment, “Children”. Conclusions: Venous malformations are an important problem in pediatric population, as a seldom affliction they can be easily misdiagnosed as other diseases and treated inadequately. Widening of awareness of venous malformations and possible methods of diagnosing and treating them is very important to raise quality of health care in children

IQOS - new heat-not-burn tobacco products and its impact on health

Introduction: Iqos and other heat-not-burn products according to tobacco companies are a safer alternative to cigarettes. The aim of this article is to objectively review the potential impact of iQOS® on human health by searching for and integrating published research findings. This article provides a comprehensive review and analysis of the scientific research conducted on the effects of Iqos use on human health, distinguishing between specific medical fields. Materials and methods: This study is based on medical articles collected from the PubMed database spanning the years 2016-2023. The research was conducted through the analysis of keywords such as "Iqos", "Heat not burn", and "Iqos health impact".  Results: Tobacco heaters are seen as potentially less harmful. However, emerging research on their harmfulness clearly shows that despite reduced concentrations of compounds hazardous to health, the aerosol produced by heaters still contains the same harmful substances. Further studies show that the toxic impact of the aerosol is at a similar level to that of smoke from traditional cigarettes

Diagnostic accuracy of liquid biopsy in endometrial cancer

Background: Liquid biopsy is a minimally invasive collection of a patient body fluid sample. In oncology, they offer several advantages compared to traditional tissue biopsies. However, the potential of this method in endometrial cancer (EC) remains poorly explored. We studied the utility of tumor educated platelets (TEPs) and circulating tumor DNA (ctDNA) for preoperative EC diagnosis, including histology determination. Methods: TEPs from 295 subjects (53 EC patients, 38 patients with benign gynecologic conditions, and 204 healthy women) were RNA-sequenced. DNA sequencing data were obtained for 519 primary tumor tissues and 16 plasma samples. Artificial intelligence was applied to sample classification. Results: Platelet-dedicated classifier yielded AUC of 97.5% in the test set when discriminating between healthy subjects and cancer patients. However, the discrimination between endometrial cancer and benign gynecologic conditions was more challenging, with AUC of 84.1%. ctDNA-dedicated classifier discriminated primary tumor tissue samples with AUC of 96% and ctDNA blood samples with AUC of 69.8%. Conclusions: Liquid biopsies show potential in EC diagnosis. Both TEPs and ctDNA profiles coupled with artificial intelligence constitute a source of useful information. Further work involving more cases is warranted.publishedVersio

Zgodność w ocenie ekspresji biomarkerów między rdzeniami mikromacierzy tkankowych z pierwotnych ognisk raka pęcherzyka żółciowego i raka jajnika

Wstęp. Technika mikromacierzy tkankowych (TMA) znalazła szerokie zastosowanie szczególnie w badaniach immunohistochemicznych nad nowymi markerami rokowniczymi i predykcyjnymi. Głównym zarzutem stawianym przez przeciwników tej metody jest niewielka ilość badanego materiału i związane z tym ryzyko nieadekwatnej oceny ekspresji analizowanych biomarkerów, wynikające z potencjalnej heterogenności tkanek guza. Materiał i metody. W niniejszej pracy oceniono zgodność ekspresji biomarkerów w dwóch niezależnych rdzeniach tkankowych o średnicy 1,5 mm uzyskanych techniką TMA od chorych na raka pęcherzka żółciowego (ERb, cytoPgR, HER2, CTGF) i raka jajnika (PTEN, BCL2, PIK3CA, IGF1R). Porównanie ekspresji poszczególych biomarkerów między rdzeniami przeprowadzono przy wykorzystaniu współczynnika korelacji (ICC), przyjmując kappa < 0,4 jako korelację słabą, ≥ 0,4 wystarczającą, ≥ 0,6 dobrą i ≥ 0,75 optymalną oraz testu Kendalla tau — pakiet ICC. Wyniki. Ocenę ekspresji biomarkerów w guzie pierwotnym przeprowadzono u 60 chorych na raka pęcherzyka żółciowego i u 64 chorych na surowiczego raka jajnika o wysokim stopniu złośliwości (high grade). U chorych na raka pęcherzykowego dodatkowo oceniono ekspresję badanych markerów w nabłonku wolnym od utkania nowotworowego. W obu nowotworach stwierdzono dobry lub wystarczający stopień jednorodności w ekspresji analizowanych biomarkerów między rdzeniami tkankowymi. Współczynnik korelacji dla ekspresji poszczególnych markerów w raku pęcherzyka żółciowego i przylegającej tkance zdrowej wyniósł: 0,68 (95% CI: 0,53–0,79)/0,62 (95% CI: 0,39–0,78) dla ERb, 0,44 (95% CI: 0,23–0,61)/0,77 (95% CI: 0,61–0,87) dla cytoPgR, 0,77 (95% CI: 0,65–0,85)/0,66 (95% CI: 0,44–0,80) dla HER2 i 0,68 (95% CI: 0,53–0,79)/0,62 (95% CI: 0,39–0,78) dla CTGF. U chorych na raka jajnika współczynnik korelacji w obrębie guza pierwotnego wyniósł 0,82 (95% CI: 0,71–0,89) dla PTEN, 0,84 (95% CI: 0,75–0,90) dla BCL2, 0,71 (95% CI: 0,56–0,81) dla PIK3CA i 0,77 (95% CI: 0,65–0,85) dla IGF1R. Wnioski. Technika mikomacierzy tkankowych pozwala na wiarygodną ocenę ekspresji biomarkerów tkankowych w obrębie pierwotnego ogniska raka pęcherzyka żółciowego i raka jajnika

Glioblastoma-derived spheroid cultures as an experimental model for analysis of EGFR anomalies

Glioblastoma cell cultures in vitro are frequently used for investigations on the biology of tumors or new therapeutic approaches. Recent reports have emphasized the importance of cell culture type for maintenance of tumor original features. Nevertheless, the ability of GBM cells to preserve EGFR overdosage in vitro remains controversial. Our experimental approach was based on quantitative analysis of EGFR gene dosage in vitro both at DNA and mRNA level. Real-time PCR data were verified with a FISH method allowing for a distinction between EGFR amplification and polysomy 7. We demonstrated that EGFR amplification accompanied by EGFRwt overexpression was maintained in spheroids, but these phenomena were gradually lost in adherent culture. We noticed a rapid decrease of EGFR overdosage already at the initial stage of cell culture establishment. In contrast to EGFR amplification, the maintenance of polysomy 7 resulted in EGFR locus gain and stabilization even in long-term adherent culture in serum presence. Surprisingly, the EGFRwt expression pattern did not reflect the latter phenomenon and we observed no overexpression of the tested gene. Moreover, quantitative analysis demonstrated that expression of the truncated variant of receptor—EGFRvIII was preserved in GBM-derived spheroids at a level comparable to the initial tumor tissue. Our findings are especially important in the light of research using glioblastoma culture as the experimental model for testing novel EGFR-targeted therapeutics in vitro, with special emphasis on the most common mutated form of receptor—EGFRvIII