Background. Hereditary liver diseases are a significant social problem, often hindering early diagnosis. The lack of pathognomonic symptoms for most liver diseases in the preclinical and early stages of disease development leads to low detection rates and frequent diagnostic errors. Therefore, studying the informativeness of biochemical and clinical indicators is currently relevant. The aim of this study was to investigate informative diagnostic indicators for hereditary liver diseases. Materials and Methods. Archival medical records from the gastroenterology department were analyzed, identifying 67 patients (aged 4 months to 17 years) who underwent inpatient treatment between 2024 and 2025. Based on the data obtained, a group of patients with hereditary (study) and non-hereditary (control) liver pathology was identified, and the main biochemical and clinical indicators of diagnostic value were studied. Results. The study showed that the most informative biochemical abnormalities in hereditary liver diseases include total bilirubin, alkaline phosphatase, alanine aminotransferase, and triglyceride levels (p < 0.05). Hereditary liver diseases typically present with early onset and are often asymptomatic or minimally symptomatic. The most common clinical signs are splenomegaly and hepatomegaly (p < 0.001). Hereditary liver disease is often associated with extrahepatic manifestations, including neurological and respiratory symptoms (p < 0.05). Conclusion. The data obtained can serve as a basis for improving diagnostic algorithms, reducing the time to diagnosis, and initiating timely pathogenetic therapy, ultimately improving the prognosis and quality of life of patients with hereditary liver disease. Keywords: hereditary liver pathology, biochemical markers, informativeness of biochemical markers.
Background. Atrial infarction is a common but often undiagnosed disease. The lack of clear and reliable diagnostic criteria, as well as the lack of awareness among doctors are the reasons for this state of affairs. The right diagnosis with detection of an infarct-related atrial artery and restoration of blood flow will prevent complications and improve the prognosisAim. To analyze the data of literature on the etiology of atrial infarction, diagnostic possibilities and the role of diagnostic methods, including electrocardiography, transesophageal echocardiography, and coronary angiography.Results. Atrial infarction occurs due to atherosclerotic lesions of the atrial arteries. It is also described in pulmonary hypertension, atrial embolism, complications of percutaneous coronary interventions or ablation of the left atrium. Atrial infarction can be combined with inferior infarction of the left ventricle and with infarction of the right ventricle, which is associated with the joint blood supply. Isolated atrial infarction is possible, more often the right one. Diagnosis of atrial infarction is difficult. Electrocardiographic criteria for atrial infarction do not have sufficient sensitivity and specificity. Transesophageal echocardiography makes it possible to assess atrial wall akinesia and atrial thrombus. It is important to assess atrial branches with coronary angiography. The most common complications are supraventricular arrhythmias, bradycardia, thromboembolic complications, and atrial rupture with tamponade. The main treatment method is reperfusion therapy.Conclusion. Diagnosis of atrial infarction is difficult. To make a diagnosis it is important to search for signs of atrial infarction using a comprehensive examination, including coronary angiography.
Relevance. Obsessive–compulsive disorder has been increasingly linked to autonomic nervous system dysregulation, which may confer elevated cardiovascular risk. Heart rate variability is a non-invasive marker of sympathovagal balance and autonomic flexibility. However, comprehensive heart rate variability assessment incorporating nonlinear indices in young, drug-naïve obsessive–compulsive disorder patients remains limited.Aim. To compare time-domain, frequency-domain, and nonlinear heart rate variability parameters between patients with obsessive–compulsive disorder and healthy controls.Materials and methods. The present cross-sectional comparative study included 80 participants aged 20–30 years: 40 newly diagnosed obsessive–compulsive disorder patients and 40 age- and sex-matched healthy controls. Heart rate variability was assessed using a 5-minute resting electrocardiography recording under standardized conditions.Results: Patients with obsessive–compulsive disorder demonstrated a significant reduction in heart rate variability compared with healthy controls. Time-domain heart rate variability parameters were significantly lower in the obsessive–compulsive disorder group, indicating reduced parasympathetic cardiac modulation. In the frequency domain, total power and high-frequency normalized units were significantly decreased in obsessive–compulsive disorder patients, whereas low-frequency power, very-low-frequency power, and the Low Frequency/High Frequency ratio did not show statistically significant differences between the two groups. Nonlinear heart rate variability analysis revealed a significant reduction in Standard Deviation 2, reflecting impaired long-term heart rate variability dynamics, while the Standard Deviation 1/ Standard Deviation 2 ratio remained preserved.Conclusion. Patients with obsessive–compulsive disorder demonstrates significant autonomic imbalance characterized by parasympathetic withdrawal, reduced overall heart rate variability, and diminished autonomic flexibility. These findings support impaired cardiovascular autonomic regulation as a consistent physiological feature of obsessive–compulsive disorder and highlight the potential role of heart rate variability assessment in early cardiovascular risk stratification and integrative psychiatric evaluation.
Relevance. Chronic calculous cholecystitis can cause many complications. One of them is the formation of a cholecystoduodenal fistula, the migration of gallstones into the intestines, and gallstone obstruction, which is more commonly located in the ileum. Among all forms of acute intestinal obstruction, colonic obstruction accounts for 30-40%. The main cause of colonic obstruction is tumoral damage to the colon, which accounts for 93%. The mortality rate for acute intestinal obstruction varies widely (10–40 %) and depends on the type of obstruction, the speed of diagnosis, and adequate treatment. The combination of different types of intestinal obstruction occurring at different levels is an extremely rare clinical situation. Clinical observation. This article presents a rare clinical observation of a combination of two types of intestinal obstruction of different etiologies occurring at different levels of the digestive tract.Case Description. A 69-year-old man was admitted to the surgical department of the clinic with symptoms of acute intestinal obstruction. A multispiral computed tomography scan revealed a cholecystoduodenal fistula and a foreign body in the ileum (a gallstone) with signs of obstruction and the formation of small intestinal obstruction. A laparotomy was performed, and an ileal obstruction caused by a gallstone was discovered. An obstructing tumor with exophytic growth was found in the lower third of the sigmoid colon. The colon is moderately dilated. A dense infiltrate is detected in the subhepatic space. It is decided to perform a minimum amount of intervention in the conditions of emergency care. A loop colostomy is removed in the left iliac area, fixed. The stone from the small intestine is moved to the colon and removed through the colostomy.Based on the available modern literature, the authors have identified only one description of a combination of different types of intestinal obstruction at different levels.Conclusion. The rare combination of two types of intestinal obstruction was diagnosed in a timely manner. The chosen treatment strategy allowed for the resolution of a severe complication of cholelithiasis and the continuation of the examination for cancer.
Background. N-acetyltransferase 2 is an enzyme involved in the detoxification of xenobiotics. The N-acetyltransferase 2 gene is polymorphic and causes variants of the enzyme structure, determining susceptibility to neoplasia, metabolic changes and diseases. The aim. To study the features of the N-acetyltransferase 2 gene polymorphism in blood samples of patients operated on for euthyroid and toxic goiter, and its role in the development of complications of the disease and surgery. Materials and methods. The study included patients living in the Irkutsk region who, during 2021–2023, underwent thyroidectomy for euthyroid and toxic goiter: 11 patients with diffuse toxic goiter, 12 with multinodular toxic goiter and 18 with multinodular euthyroid goiter. The control group is volunteers without thyroid pathology. Single nucleotide polymorphisms in the structural region of the N-acetyltransferase 2 gene (С282Т (rs1041983), T341C (rs1801280), С481Т (rs1799929), G590A (rs1799930), А803G (rs1208) и G857A (rs1799931)) were studied by the polymerase chain reaction method. Results. The frequency of detection of the unchanged nucleotide sequence at position C282T is reduced (up to 45 % in diffuse toxic goiter and 50 % in multinodular toxic goiter) (p <0.0005). The frequency of detection of the T341C polymorphism in the homozygous state in multinodular toxic goiter was 33 % and was not detected in diffuse toxic goiter and in the control (p <0.0005). The frequency of neutropenia development against the background of thiamazole intake was 9 % and did not depend on the C282T polymorphism (p>0.95). In diffuse toxic goiter, a moderate negative correlation was noted between C282T and C481T, T341C (p <0.0005). At the same time, in multinodular toxic goiter, a positive relationship was found between C282T and G590A (p <0.0005). Conclusion. The study demonstrates the features of the N-acetyltransferase 2 gene polymorphism in blood samples of patients operated on for euthyroid and toxic goiter
