Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome.

Constitutional mismatch repair deficiency (CMMRD) is a rare syndrome characterized by an increased incidence of cancer. It is caused by biallelic germline mutations in one of the four mismatch repair genes (MMR) genes: MLH1, MSH2, MSH6, or PMS2. Accurate diagnosis accompanied by a proper molecular genetic examination plays a crucial role in cancer management and also has implications for other family members.

Tazemetostat in the therapy of pediatric INI1-negative malignant rhabdoid tumors.

Rhabdoid tumors are aggressive tumors that may arise in the kidney, soft tissue, central nervous system, or other organs. They are defined by SMARCB1 (INI1) or SMARCA4 alterations. Often, very young children are affected, and the prognosis is dismal.

[Frequency and risk factors for thromboembolic complications in patients with inflammatory bowel diseases].

Background: Inflammatory bowel diseases (IBD) are characterized by chronic immune inflammation of the mucous membrane and/or the thickness of the intestinal wall, and are also accompanied by disorders of the blood clotting system and the development of a hypercoagulation state.

Aim: To identify the frequency of thromboembolic complications (TEC) in IBD patients and to determine the influence of acquired and inherited hypercoagulation factors that contribute to the development of TEС.

Materials And Methods: The clinical status of 1,238 IBD patients who were treated in 2019 was evaluated.

[Histological remission of ulcerative colitis with combined anti-cytokine and cell therapy].

Aim: To conduct comparative analysis of histological remission in patients with moderate and severe ulcerative colitis (UC), receiving biological therapy vedolizumab, mesenchymal stem cell (MSC) treatment and combined stem cells and vedolizumab therapy.

Materials And Methods: We studied biopsies of 75 patients with total or left-sided moderate and severe ulcerative colitis, divided into groups depending on treatment. The first group of UC patients (n=29) received stem cell therapy 2 mln per kg; the second group of UC patients (n=27) received vedolizumab and the third group (n=19) MSC and vedolizumab.

[Clinical portrait of a patient with COVID-19. The experience of a multidisciplinary clinic].

Aim: Evaluation of the clinical characteristics in patients with COVID-19.

Materials And Methods: The article presents clinical and instrumental data of 1169 patients included in a single-center mixed study. Patients were tested for COVID-19 using polymerase chain reaction, computed tomography (CT), and antibody screening.

Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases.

Background: Academic-sponsored trials for rare diseases face many challenges; the present paper identifies hurdles in the set-up of six multinational clinical trials for drug repurposing, as use cases.

Methods: Six academic-sponsored multinational trials aiming to generate knowledge on rare diseases drug repurposing were used as examples to identify problems in their set-up. Coordinating investigators leading these trials provided feedback on hurdles linked to study, country, and site set up, on the basis of pre-identified categories established through the analysis of previous peer-reviewed publications.

[Screening for celiac disease among patients of the gastroenterological profile].

Aim: To determine the frequency of celiac disease (CD) among gastroenterological patients and criteria for its active detection.

Materials And Methods: 1.358 patients referred for gastroenterologist consultation from 2016 to 2019 was conducted, of which 140 had CD (339 males 24.

Lycopene increases metabolic activity of rat liver CYP2B, CYP2D and CYP3A.

Background: Lycopene as a naturally occurring carotenoid is a common part of the human diet. Several beneficial properties of lycopene have been identified, with the most studied being anti-cancer and antioxidant activity. However, no evidence of possible drug-drug or drug-food supplement interactions has been found.

[Iron deficiency syndromes and their correction with nutritional support in elderly patients with colo-rectal cancer.].

51 patients with operated colorectal cancer T1N0M0, T3N1M0 and T4N0M1 at the age of 67±2,3 years receiving adjuvant chemotherapy and nutritional support (NS) were examined. Nutritional status was assessed using alimentazione-volume diagnosis to the points on L.N.

[Cytological diagnostics of intraoperative peritoneal washes in gastric cancer.].

Diagnosis of peritoneal microcanceromatosis is the most important task allowing to determine treatment strategy for patients with stomach cancer. Laparoscopy combined with peritoneal flushing and subsequent cytological examination should be performed to detect the peritoneal microcanceromatosis at the preoperative stage. The objective of this work was to improve cytological diagnostics of peritoneal washings using immunocytochemical techniques and the cell block method.

The use of fecal calprotectin in monitoring activity of inflammatory bowel diseases.

Aim: To compare fecal calprotectin (FC) concentration with laboratory and diagnostic methods in patients with inflammatory bowel diseases (IBD).

Materials And Methods: The level of FC was measured in 110 patients with established IBD. Crohn diseases (CD) was diagnosed in 50 patients, ileocolitis - in 38 and terminal ileitis in 12 individuals.

Mesenchymal stromal cells of bone marrow and azathioprine in Crohn's disease therapy.

Aim: To evaluate the effectiveness of MSCs therapy in patients with CD receiving azathioprine (AZA).

Materials And Methods: The study included 34 patients with inflammatory (luminal) form of CD. The 1st group of patients (n=15) received an- ti-inflammatory therapy using MSCs culture in combination with AZA.

Effect of Endocannabinoid Oleamide on Rat and Human Liver Cytochrome P450 Enzymes in In Vitro and In Vivo Models.

The endocannabinoid system is important for many physiologic and pathologic processes, but its role in the regulation of liver cytochromes P450 (P450s) remains unknown. We studied the influence of the endocannabinoid oleamide on rat and human liver P450s. Oleamide was administered intraperitoneally to rats at doses of 0.

The effect of (-)-linalool on the metabolic activity of liver CYP enzymes in rats.

(-)-Linalool is the major floral scent occurring mainly in families Lamiaceae, Lauraceae and Rutaceae and is the main active compound of lavender oil. The purpose of this study was to reveal the influence of subchronic systemic treatment with (-)-linalool on the metabolic activity of CYP2A, 2B, 2C6, 2C11 and 3A in rat liver microsomes (RLM). The second aim was to reveal possible inhibitory effect of (-)-linalool on CYP2C6 in vitro.

Bile acids, nuclear receptors and cytochrome P450.

This review summarizes the importance of bile acids (BA) as important regulators of various homeostatic mechanisms with detailed focus on cytochrome P450 (CYP) enzymes. In the first part, synthesis, metabolism and circulation of BA is summarized and BA are reviewed as physiological ligands of nuclear receptors which regulate transcription of genes involved in their metabolism, transport and excretion. Notably, PXR, FXR and VDR are the most important nuclear receptors through which BA regulate transcription of CYP genes involved in the metabolism of both BA and xenobiotics.

[Long-term infliximab therapy for ulcerative colitis in real clinical practice].

Aim: to retrospectively evaluate the efficiency of long-term infliximab (INF) therapy in patients with refractory ulcerative colitis (UC).

Subjects And Methods: The investigation enrolled 48 patients with refractory UC who had taken IFL in 2008 to 2014. Steroid-dependent or steroid-refractory UC was established in 40 (83.

Identification of metabolites of selected benzophenanthridine alkaloids and their toxicity evaluation.

Selected benzo[c]phenathridine alkaloids were biotransformed using rat liver microsomes and identified by liquid chromatography and mass spectrometry. While the metabolites of commercially available sanguinarine and chelerythrine have been studied in detail, data about the metabolism of the minor alkaloids remained unknown. Reactions involved in transformation include single and/or double O-demethylation, demethylenation, reduction, and hydroxylation.

Can bioactive compounds of Crocus sativus L. influence the metabolic activity of selected CYP enzymes in the rat?

Safranal and crocin are biologically active compounds isolated from Crocus sativus L., commonly known as saffron. Clinical trials confirm that saffron has antidepressant effect, thus being a potential valuable alternative in the treatment of depression.

Cannabinoids and Cytochrome P450 Interactions.

Objective: This review consists of three parts, representing three different possibilities of interactions between cannabinoid receptor ligands of both exogenous and endogenous origin and cytochrome P450 enzymes (CYPs). The first part deals with cannabinoids as CYP substrates, the second summarizes current knowledge on the influence of various cannabinoids on the metabolic activity of CYP, and the third outline a possible involvement of the endocannabinoid system and cannabinoid ligands in the regulation of CYP liver activity.

Methods: We performed a structured search of bibliographic and drug databases for peer-reviewed literature using focused review questions.

[Multipurpose psyllium monotherapy in patients with diverticular disease].

The purpose of the research was the study of the prebiotic and hypolipidemic effects of 12-week treatment by psillium of patients with uncomplicated diverticular disease and hyperlipidemia. It has been established that the examined medicine has not any by-effects, normalizes intestinal motility and lowers a pain syndrome and flatulence. Prebiotic effect has proved by higher concentration of short-chain fatty acids in faeces and reduction of anaerobic index.

[Intrahepatic cholestasis in chronic liver diseases].

The syndrome of cholestasis is a common manifestation of chronic liver disease (CLD) of any etiology: alcoholic, viral, drug, metabolic, etc. The basis of the formation of cholestasis is a violation of the synthesis, secretion or bile outflow. Accession intrahepatic cholestasis (field surgery) for chronic liver disease alters its course, aggravates the condition of the patient, reduces the immune system, leads to development of severe septic complications, significantly reduces the quality of life (QoL) and worsens the prognosis.

[Pharmacokinetics of iron medication and efficacy of therapy with oral iron supplementation].

The pharmacokinetics of iron oral medication in was studied in patients with liver cirhorosis. In patients with hepatocellular insufficiency and high level of gepsidin found a decrease of the iron absorption constant, which led to a change in pharmacokinetic parameters. Tests on the absorption of iron have been conducted in 25 patients with liver cirrhosis, 36% of them showed a decrease of iron absorption, which led to the decrease in the efficiency of subsequent iron therapy.

[Syndrome of iron overload and its impact on the clinical course and risk of complications in patients with liver cirrhosis].

The paper presents the results of a study of iron metabolism in 185 patients with cirrhosis of different etiologies. The frequency of iron deficiency in 28.6% of patients and the syndrome of iron overload - 18.