Vol 11, No 5 (2025)

The incidence of inflammatory bowel diseases (IBD) is steadily increasing in human population, while they have a chronic, in some cases disabling clinical course, are accompanied by not only intestinal, but also extraintestinal symptoms that require timely diagnosis. One of these extraintestinal manifestations (EIMS) is osteopenic syndrome, the mechanisms of which in case of IBD require study.

The aim: to study laboratory and instrumental special characteristics and some mechanisms of osteopenic syndrome in case of IBD.

Material and methods. The study included 194 patients having IBD: 157 with ulcerative colitis and 37 with Crohn’s disease (CD). Osteopenic syndrome was verified by densitometry of the calcaneus and by biochemical parameters: serum concentrations of tartrate-resistant acid phosphatase, alkaline phosphatase, ionized calcium. Immunohistochemical study of colon biopsy specimens with morphometric analysis of quantitative density of CD₃ – immunopositive colonocytes, optical density and relative expression area of immunopositive to fatty acid synthase (FAS) colonocytes were performed.

Results. Osteopenic syndrome was detected in 26 patients with ulcerative colitis (16.5%) and 12 patients with CD (32.4%). Osteopenia correlated with the duration of the history, peculiarities of the clinical course, severity of IBD attack, steroid dependence, the presence of other EIMS. Morphometric parameters of CD₃-positive colonocytes of the epithelium and lamina propria of colon mucosa, relative area and optical density of expression of colonocytes immunopositive to FAS were determined. Correlations of morphometric parameters of these colonocytes with instrumental and laboratory osteopenia markers were identified.

Conclusion. Risk factors for osteopenic syndrome in IBD were clinical and anamnestic data, steroid dependence, and in case of CD – comorbidity with other EIMS (non-alcoholic fatty liver disease and cholelithiasis). Correlations were found between densitometric and biochemical characteristics of bone remodeling with the quantitative density of CD₃-positive colonocytes and optical density and expression area of colonocytes immunopositive to fatty acid synthase.

Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease, the prognosis of which directly depends on the patient’s lifestyle. Therefore, a comprehensive assessment of nutritional status and a detailed study of the clinical and molecular peculiarities of the disease allow to choose optimal therapeutic approaches.

The aim: to develop diagnostic criteria for nutritional status and additional markers for the prognosis of NAFLD basing on the study of clinical, functional, nutritional, metabolic and hormonal criteria of this disease.

Material and methods. During one-stage, open, non-randomized study, all participants (n = 349) underwent a multi-level comprehensive estimation of nutritional status. In patients with NAFLD (113 patients with non-obese NAFLD, 122 patients with obese NAFLD), the degree of fibrosis was additionally estimated using a set of non-invasive diagnostic methods.

Results. In the course of linear regression intersystem analysis of nutritional and molecular parameters, predictors of fibrosis development in case of NAFLD were identified: waist circumference, active cell and fat mass percentage in body composition, prealbumin, visfatin and 25(OH) vitamin D levels. Using the logistic regression method, models were built to determine significant factors associated with the chance of having this disease: for patients with NAFLD without obesity, these factors were the waist-to-hip ratio, adipokine levels and 25(OH) vitamin D, and for patients with NAFLD and obesity they were a combination of percentage of active cell mass, prealbumin and 25(OH) vitamin D levels (p < 0.05).

Conclusion. The results of the study allowed us to identify diagnostic combinations of parameters of nutritional-metabolic status and determine additional prognostic markers of fibrosis development in patients with NAFLD.

Familial hypercholesterolemia (FH) is one of the most common hereditary diseases. Genetic testing for FH allows make profiling patients depending on the type of enzyme system defect and prescribe personalized therapy for them.

The aim: to search for molecular markers of FH in patients from Chuvashia.

Material and methods. In Republican cardiology dispensary of the Ministry of Healthcare of the Chuvash Republic (Cheboksary), a search for mutation variants of genes associated with the development of genetically determined hypercholesterolemias, as well as with other hereditary diseases with similar phenotypic manifestations, was performed in 12 patients with probable and definite FH (according to the criteria of the Dutch Lipid Clinic Scale, DLCNC).

Results. Molecular markers of FH were detected in 33.3% (n = 4) of patients. Mutations of LDLR and PCSK9 genes in a heterozygous state were identified. Variants of nucleotide sequence in LDLR gene (Chr19: 11224317, NM_000527.5: c.T1465A: p.Tyr489Asn); (Chr19:11217240, rs879254652, NM_000527.5:c.695 1G>T); (Chr19:11218138, rs879254708, NM_000527.5:c.C888A:p.Cys296Ter), in PCSK9 gene (Chr1:55523127, rs137852912, NM_174936.4:c.G1120A:p.Asp374Asn) were found in the examined samples.

Conclusion. A genetic study concerning FH aspect was performed in patients of the Chuvash population for the first time. Of 12 patients in the testing group, 4 had confirmed molecular markers of the disease, and 3 had the most common cause of FH (mutations in LDLR gene), which causes 85–90% of cases of this disease. Current study adds to the knowledge about the spectrum of variants causing FH in Russia and allows not only to confirm the diagnosis in the examined person, but also to make a cascade screening of his relatives for the purpose of early diagnosis of the disease.

One of the reasons for the ineffectiveness of arterial hypertension (AH) therapy may be the peculiarities of antihypertensive drugs pharmacokinetics.

The aim: to evaluate indapamide pharmacokinetics in patients with controlled and uncontrolled AH.

Material and methods. Clinical, cross-sectional, controlled open cohort study was performed at the Regional Clinical Cardiology Dispensary (Ryazan). The analysis included 174 patients: 80 with controlled, 94 with uncontrolled AH. All participants regularly took a renin-angiotensin-aldosterone system blocker (lisinopril or valsartan), amlodipine, indapamide for a month. 106 patients received indapamide in the form of immediate release (IR) 2.5 mg, 68 – in the form of slow release (SR) 1.5 mg. In the morning on an empty stomach before and 2 hours after taking the drugs, venous blood samples were taken from all patients to assess the equilibrium concentration of indapamide (C_0h) and its concentration 2 hours after administration (C_2h) using high-performance liquid chromatography with tandem mass spectrometry.

Results. The patients of the compared groups were comparable in terms of AH stages and major comorbidities. The frequency of prescribing indapamide IR 2.5 mg and indapamide SR 1.5 mg in the controlled and uncontrolled AH groups did not differ statistically significantly. C_0h and C_2h of indapamide in the groups also did not have statistically significant differences. At the same time, both in patients with uncontrolled and controlled AH, there were revealed individuals whose indapamide concentration was below the level of quantitation (9.6 and 6.3%, respectively). During the correlation analysis, an inversely proportional correlation was established between the C_0h of the studied drug and the level of diastolic blood pressure.

Conclusion. Changes in indapamide pharmacokinetics are not the main reason for the ineffectiveness of AH therapy. However, in 9.6% of patients with uncontrolled AH, indapamide was not detected in the blood serum and, as a result, did not have the necessary therapeutic effect.

Vitamin D plays a significant role in the organism, participating in regulation of the immune response, inflammation, apoptosis and cell proliferation. Particularly important is the effect of vitamin D at the course of type 2 diabetes mellitus (T2DM), when chronic inflammation and pancreatic β-cells dysfunction are taking place. Hypovitaminosis D can also worsen the course of arterial hypertension (AH) and contribute to the development of cardiovascular diseases, the leading cause of death in many countries. Vitamin D deficiency and genetic features of its receptor (VDR) can worsen the course of these diseases.

The aim: to evaluate the correlation between vitamin D deficiency, VDR levels, and apoptosis markers in patients with T2DM and AH.

Material and methods. The study involved 160 individuals (130 with T2DM and AH and 30 healthy persons). Patients with T2DM and AH were divided into 4 groups depending on the vitamin D level. Levels of vitamin D, glucose, netrin-1, heat shock protein 70 (HSP-70), and VDR were analyzed.

Results. The study revealed changes in netrin-1 and HSP-70 levels in comorbid patients with T2DM and AH having vitamin D deficiency, which confirms its association with impaired regulation of apoptosis and oxidative stress. A decrease in HSP-70 can contribute to the progression of atherosclerosis, and changes in netrin-1 are associated with inflammatory processes and complications of T2DM and AH. Insulin resistance disrupts the circulation of netrin-1, which contributes to chronic inflammation and insulin resistance. In patients with optimal vitamin D levels in the present study, VDR was significantly higher comparatively to other groups. After correction of vitamin D deficiency, normalization of inflammation and apoptosis biomarkers was observed.

Conclusion. Achieving target levels of vitamin D can improve clinical outcomes in case of T2DM and AH, which requires further research.

Article presents data from the study of domestic and foreign literature devoted to the pathogenetic role of female fertility factor in the development of cholelithiasis, with the aim of finding opportunities for preventive action at its development in females with a family predisposition to cholelithiasis and dyshormonosis in the sex hormone system. When choosing a method of contraception and hormone replacement therapy for such female patients, information about hereditary burden of cholelithiasis should be taken into account, instrumental visualization of the biliary tract should be carried out to exclude bile sludge and asymptomatic stone carriage, the possibility of litholytic therapy should be agreed with a gastroenterologist.

Article describes a clinical observation of a 49-year-old female patient with 25-year history of severe steroid-dependent ulcerative colitis (UC). The patient had ineffective/intolerant treatment with 5-aminosalicylic acid, glucocorticosteroids, thiopurines, and budesonide MMX. Remission was achieved with etrolizumab (4.5 years), but a relapse occurred after its discontinuation. During an exacerbation of UC (April 2023, Mayo 3), ustekinumab was prescribed: induction – 6 mg per kilogram intravenously, maintenance therapy – 90 mg subcutaneously every 12 weeks. As a result, it was possible to achieve stable clinical remission lasting 2 years. Endoscopy (April 2025) showed minimal UC activity (Mayo 1), histological examination – disease activity of 2 points according to Riley with the signs of healing. Thus, ustekinumab effectively induced and maintained remission in a female patient with UC refractory to the therapy by genetically engineered biological medicinal product of the first line.

Chronic urticaria (CU) is a condition that occurs due to known and unknown causes, in which wheals, each of which exists for no more than 24 hours, appear daily or almost daily for > 6 weeks. CU is classified as induced, when there is a direct cause-and-effect correlation between the impact of certain triggers and the appearance of urticaria, and spontaneous, when specific triggers are unknown. The first line of therapy for chronic spontaneous (idiopathic) urticaria are second-generation H₁-antihistamines, which effectively block all the effects of histamine, realized through H₁-receptors, and have an additional anti-inflammatory effect. Article describes a clinical observation of successful symptom control in a patient with chronic spontaneous (idiopathic) urticaria in combination with delayed pressure urticaria using the second-generation H₁-antihistamine fexofenadine medication.

Article discusses the risks of various malignant neoplasms arising, with the exception of colorectal cancer, in patients with inflammatory bowel diseases and the impact of available treatment methods at such kind of risks. Peculiarities of choosing a therapy for inflammatory bowel diseases in patients with pre-existing malignant neoplasms are also discussed.

Rifaximin is a broad-spectrum antibiotic from the rifamycin group, which has minimal systemic absorption and implements its effect mainly in the intestinal lumen. It is actively used in the therapy of gastrointestinal tract diseases of various origins, including acute intestinal infections, bacterial overgrowth syndrome, traveler’s diarrhea and hepatic encephalopathy. The article presents current data on the mechanism of action, pharmacokinetics and pharmacodynamics of rifaximin, substantiates its advantages over systemic antibacterial medicines, and discusses the aspects concerning risks of developing antibiotic resistance with long-term use. Particular attention is paid to the results of clinical studies confirming the efficacy and safety of the medicine.

Life quality of patients (LQ) is a key parameter of treatment efficacy. The influence of comorbid conditions at LQ has been repeatedly proven by many studies. However, in patients with atrial fibrillation (AF) in combination with non-alcoholic fatty liver disease (NAFLD) and hyperammonemia (HA), a comprehensive assessment of LQ has not been performed.

The aim: to estimate LQ in comorbid patients with AF and NAFLD with HA.

Material and methods. The study included 103 individuals: 40 healthy persons (15 females, 25 males, aged 58.24 ± 9.21 years) and 63 patients with permanent or persistent AF and NAFLD (25 females, 38 males, aged 63.92 ± 10.11 years). Among the study participants with AF in combination with NAFLD and HA, 2 randomized groups were identified: group 1 (n = 39) – patients who received standard therapy (angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers, antiarrhythmic, diuretic, anticoagulant drugs); group 2 (n = 24) – patients who received L-ornithine-L-aspartate in addition to standard therapy. Validated SF-36 Health Status Survey (SF-36) questionnaire was used to assess LQ.

Results. It was reliably established that AF and NAFLD patients with GA have significantly lower LQ indexes comparatively to healthy individuals (p < 0.001). In patients with AF, NAFLD and HA, in the course of additional therapy by L-ornithine-L-aspartate, a significant improvement in LQ indexes was recorded comparatively to patients receiving standard therapy (p < 0.05).

Conclusion. Obtained data confirm the negative impact of AF in combination with NAFLD and HA at the LQ of patients. The addition of the hypoammonemic drug L-ornithine-L-aspartate to standard therapy demonstrated an advantage over standard treatment in this category of patients in the form of improved LQ indexes.