Ischemic stroke and cardiovascular diseases have many common risk factors. Accordingly, patients with common triggers have high risk of developing brain-heart axis disorders. Since 2018, the stroke-heart syndrome has been distinguished in the cerebrocardial relationships structure. It includes any new heart disorders or worsening of existing heart diseases observed during the first 30 days after acute ischemic stroke, the peak of which occurs in the first 72 hours after the neurological catastrophe. The pathogenetic mechanisms of this syndrome are currently being actively studied. The main cause of heart damage against the background of stroke is the autonomic nervous system dysfunction, which is manifested in a decrease in parasympathetic and an increase in sympathetic activity, which is presented as a heart rate variability and baroreceptor reflex decrease. Stroke is also accompanied by the hypothalamic-pituitary-adrenal axis and the sympathoadrenal system activation, the systemic inflammatory response and hypercoagulation development. Recent data indicate that microRNA and intestinal microbiota play a role in cerebrocardial interactions. The review describes current concepts of this type of acute cerebrocardial syndrome manifestations, the classification possibilities and attempts at phenotyping, and also provides current epidemiological data. The diagnostic capabilities of routine laboratory and instrumental examinations are discussed, as well as promising methods that require additional research.

Purpose: The effect of choosing the type of exercise — the first-line conservative non-pharmacological therapy in managing non-alcoholic fatty liver disease (NAFLD) — on improving liver enzymes has not been fully investigated.: This was a comparative trial aimed to examine the response of liver enzymes to pyramidal progressive-intensity (interval) versus continuous moderate-intensity aerobic training in NAFLD women. Materials and Methods: Thirty-eight NAFLD women were randomized into a pyramidal training group (n=19) and a group of continuous moderate-intensity exercise (n=19). Both groups followed a reviewed 12-week low-calorie diet and received exercise training thrice weekly. Besides body mass index (BMI) and abdominal circumference (AC), NAFLD patients’ serum alanine transaminase enzyme (ALTE), alkaline phosphatase enzyme (ALPE), high-density lipoprotein (HDL), aspartate transaminase enzyme (ASTE), triglycerides (TGs), and gamma-glutamyl-transpeptidase enzyme (GGTE) were assessed before and after 12 weeks. Results: Significant improvements in all outcomes occurred after finishing both training forms. The pyramidal aerobic form produced more significant and pronounced improvements in the tested outcomes compared to the other form of exercise, moderate-intensity aerobic exercise. Conclusion: Both training forms, moderate-intensity aerobic exercise or pyramidal training, significantly improved NAFLD patients’ ALTE, BMI, ASTE, HDL, GGTE, AC, ALPE, and TGs, but the pyramidal form of exercise is more efficient than the continuous moderate-intensity form.

Relevance. Tuberous sclerosis (TS) is a hereditary tumor syndrome with autosomal dominant type of inheritance, occurring with frequency of 1:6000 — 10000 newborns worldwide. The disease is characterized by severe clinical manifestations in the form of astrocytomas of the brain, rhabdomyomas of the heart, angiomyolipomas of the kidneys, pulmonary lymphangioleomyomatosis and angiofibromas of the skin. Since effective treatment with mTOR inhibitors has been developed for TS, timely detection of patients with TS is important. The aim of the study. To determine the frequency and clinical features of TS in the Republic of Bashkortostan to improve organizational and therapeutic and diagnostic approaches in providing medical care to patients with TS. Material and methods. Determination of clinical and epidemiological features of TS in the Republic of Bashkortostan. Results. In the Republic of Bashkortostan, 86 patients with TS from 82 families were registered, the frequency of occurrence was 1:47048 people. The average age of patients was 18.5 years (from 1 year to 61 years). Depigmentation spots were found in 90 % of patients, facial angiofibromas in 56 %, head fibrous plaques in 33 %, shagreen plaques in 36 %, subependymal nodules of the brain in 66 %, and subependymal giant cell astrocytoma in 19 %, renal angiomyolipomas in 43 %, pulmonary lymphangioleiomyomatosis in 1.2 % of patients. Cognitive deficit was found in 47 %, epilepsy in 67 %, and autism in 1 % of patients with TS. Discussion. Comparative analysis of TS clinical manifestations in patients from the Republic of Bashkortostan with global data showed a significantly lower incidence of facial angiofibromas, lungs, kidneys and brain tumors, cognitive impairment and autism. 8 patients with identified mutations in the TSC1/TSC2 genes are treated with an mTOR inhibitor. Conclusion. The obtained results indicate a low frequency of registered cases of TS in the republic compared to world data. Therefore it is necessary to familiarize doctors of all specialties with the need to refer patients with symptoms characteristic of TS for medical genetic consultation. For reliable detection of tumors of the brain and internal organs, dynamic instrumental studies are necessary; assessment of psychological disorders in TS patients is necessary with consultation of psychotherapists, neurologists and psychologists.

ALCAPA (Anomalous Left Coronary Artery from the Pulmonary Artery) is a rare and dangerous congenital anomaly that is one of the leading causes of myocardial ischemia and infarction in pediatric patients. Without timely treatment and correction, the disease can lead to extremely severe consequences: up to 90 % of patients die within the first year of life. In adults, patients suffering from this syndrome may face various complications such as left ventricular dysfunction, mitral regurgitation, asymptomatic myocardial ischemia and infarction, and a high risk of sudden cardiac death. Given that this disease is rarely diagnosed, it is important to detect it early for preventive treatment and avoidance of serious disorders.
This paper describes a unique case of first-diagnosed ALCAPA syndrome in a 27-year-old female patient. In addition to the malformation, the woman suffered from severe concomitant pathology — primary sclerosing cholangitis, which was complicated by liver cirrhosis and hypersplenism. The presence of these diseases significantly complicated the choice of therapeutic tactics, requiring a personalized approach. Due to the high risk of postoperative complications, preference was given to minimally invasive endovascular embolization of the left coronary artery. The operation showed good results and led to significant improvement of the patient’s condition, including the achievement of heart failure compensation up to functional class II (NYHA). This case highlights the importance of an individualized approach in the treatment of rare adult congenital heart disease, especially in the presence of serious concomitant diseases of other organs and systems.

Hypercalcemia is a disorder of mineral metabolism that typically arises due to increased parathyroid gland function, leading to hyperparathyroidism. This condition can be triggered by various factors, such as the development of benign parathyroid hyperplasia, radiation exposure, the use of certain medications, decreased calcium levels in the body, renal pathology, impaired parathyroid gland function, and others. The complexity of diagnosing this condition is attributed to its rare occurrence and the absence of pathognomonic symptoms. The clinical manifestations of hypercalcemia are diverse and include gastrointestinal and nervous system disorders, as well as the development of urolithiasis and osteoporosis. The importance of timely diagnosis of hypercalcemia lies not only in the need to improve the patient’s quality of life and prevent complications but also in the early detection of the most severe cause of hyperparathyroidism—parathyroid cancer. This article discusses the case history of a 46-year-old patient, illustrating the delayed diagnosis of hypercalcemia and the development of parathyroid cancer despite long-standing clinical manifestations of hypercalcemia and persistent laboratory abnormalities, including elevated levels of alkaline phosphatase, free and ionized calcium. The clinical case analysis emphasizes the manifestations of hypercalcemia that should have alerted clinicians and guided the diagnostic process in the right direction. The importance of thorough history-taking and the interpretation of each clinical manifestation is underscored.

Botulism is still an urgent medical problem, leading to fatal outcomes. The article presents a typical clinical case of severe botulinum toxin poisoning, characterized by the maximum severity of all symptoms of the disease with signs of decompensated acute respiratory failure, dysphagia, ophthalmoplegic and bulbar syndromes. The difficulties and errors of clinical diagnosis that have arisen due to the similarity of botulism with other pathologies are analyzed.

Pulmonary Langerhans cell histiocytosis is a rare disease with insidious onset and nonspecific manifestations. The article discusses two clinical cases of patients with a rare pathology — pulmonary histiocytosis from Langerhans cells. Young patients and smokers are described. The diagnosis was verified morphologically. In the first case, positive X–ray dynamics was noted against the background of smoking cessation, in the second case, the patient did not stop smoking, due to the severity of shortness of breath, changes in computed tomography of the lungs, prednisone was prescribed. Against this background, there was no significant positive trend.

The article presents a clinical case of high-risk pulmonary embolism (PE) in a 74-year-old patient complicated by the development of acute kidney injury (AKI). The article discusses the manifestations, clinical, diagnostic, and therapeutic aspects of managing patients with PE, including the use of thrombolysis and anticoagulant therapy. Clinical manifestations of the disease are described, including severe shortness of breath, weakness, and swelling of the lower extremities. The course of PE was complicated by the development of AKI, established by oliguria and high serum creatinine levels. The data from laboratory and instrumental studies are presented, demonstrating the dynamics of recovery of kidney function after treatment. The possible role of congenital malformation (agenesis) of left kidney in the patient as a condition of predisposition to AKI is mentioned. The basic information about the pathophysiological mechanisms of AKI in PE is presented. The effect of acute right ventricular failure, which leads to increased central venous pressure, passive renal hyperemia, increased interstitial pressure, and renal interstitial edema, is discussed. In the development of AKI, a decrease in cardiac output is also distinguished, followed by hypoperfusion of the renal parenchyma. It is believed that concomitant diseases such as diabetes mellitus, arterial hypertension, and chronic kidney disease are both risk factors for the development of AKI, predispose to kidney damage under severe hemodynamic stress, and factors that exacerbate renal dysfunction with hypoperfusion and congestive nephropathy. Special attention is paid to the effect of AKI on the prognosis of PE. The authors conclude that an integrated approach is needed to assess the condition of patients with PE, monitor renal function, and develop individual therapeutic strategies to minimize the risks of kidney damage. The article highlights the importance of timely intervention and differentiated treatment tactics for patients with PE and concomitant AKI.