Background. Antitumor drug therapy plays a significant role in the treatment of metastatic colorectal cancer, increasing patient survival. The use of immuno-oncology agents in this treatment is limited, as most colorectal tumors are characterized by low immunogenicity. Cytokine gene therapy agents are gaining attention as agents capable of activating the antitumor immune response. Materials and methods. Patient T., 76, was followed up with a diagnosis of cT3N1M1 cecal cancer, multiple liver metastases, and peritoneal carcinomatosis. Histologically, adenocarcinoma, G3, was confirmed, with no signs of microsatellite instability, KRAS mut, NRAS wt, HER2/neu wt, and BRAF wt. A local oncology board decided to schedule courses of drug therapy according to the XELOX regimen. A contrast-enhanced computed tomography scan revealed a cecal neoplasm, regional lymphadenopathy, peritoneal carcinomatosis, and multiple liver lesions. Wishing to complete the prescribed treatment without developing significant toxicity, the patient voluntarily presented to the clinic to receive cyclophosphamide medications. Changes in Karnofsky performance status were monitored throughout the patient's treatment. Levels of tumor necrosis factor-alpha, carcinoembryonic antigen, and cancer antigen 19-9 were assessed using enzyme-linked immunosorbent assay. Contrast-enhanced computed tomography was used for imaging. Results. During therapy, the patient reported improved well-being, increased productivity and physical activity, and normalized sleep and appetite. Her Karnofsky performance status improved, tumor necrosis factor-alpha levels increased, and tumor markers decreased: carcinoembryonic antigen by 4.2 times and cancer antigen 19-9 by 2.4 times. According to the computed tomography scan with contrast, the patient showed increasing stabilization of the tumor process. The patient has now completed six courses of recombinant tumor necrosis factor-thymosin-α1 therapy in combination with chemotherapy, and treatment is ongoing. Overall survival since diagnosis is 7+ months. Conclusion. The combination of polychemotherapy according to the XELOX regimen and the cytokine genetic therapy drug tumor necrosis factor-thymosin-α1 recombinant is not accompanied by an increase in the toxicity of cytostatics, but has a synergistic antitumor effect.
Background. Aging processes affecting all organs and systems of the body, including connective tissue, supporting joints and spine, significantly reduce the quality of life of patients of elderly and senile age. Senescent cells are resistant to apoptosis, they have increased metabolic activity, without suppression of which the accumulation of senescent cells occurs, and leads to chronic inflammation and connective tissue dysfunction. Senescent cells have a powerful senescence-associated secretory phenotype, which can enhance the aging process by suppressing the function of stem cells, disrupting tissue homeostasis, and increasing aseptic inflammation. Senolytic drugs, which have the ability to suppress pro-inflammatory cytokines, transcription factors, growth factors, and kinases, can be used to delay the aging of connective tissue and the development of the age-dependent phenotype of osteoarthritis. Conclusion. One of the promising areas is the use of therapy that includes undenatured type II collagen in a standard dosage of 40 mg. Undenatured type II collagen can be considered as a potential geroprotector, as it has an immunomodulatory effect by inhibiting pro-inflammatory cytokines (tumor necrosis factor alpha, metalloproteinase-1 and -13, interleukin-1 and -6), increasing the synthesis of anti-inflammatory mediators (transforming growth factor beta, interleukin-4, interleukin-10), and thus reducing joint inflammation and promoting cartilage regeneration. Oral forms of undenatured type II collagen are used in the Russian market as part of the domestic Chondroguard TRIO. The experience of oral use of dietary supplements in patients with osteoarthritis and lower back pain with comorbid diseases is presented. The clinical efficacy and safety of auxiliary support with pharmaconutrient in patients of different age groups with different osteoarthritis phenotypes (post-traumatic, metabolic), in elderly patients with osteoarthritis of the knee joints are demonstrated.
Background. Listeriosis is primarily a foodborne infection of sporadic nature, associated with the consumption of contaminated products. The clinical picture of the infection depends on the immune response of the infected individual. Healthy people with a normal immune response may experience acute listerial gastroenteritis without generalization of the infection. In immunocompetent individuals, self-limiting gastroenteritis, sepsis, and severe meningoencephalitis may develop. Listeriosis poses a serious threat in obstetrics and neonatology due to the high virulence of Listeria monocytogenes and its ability to cross the placental barrier. In pregnant women, listeriosis often runs mildly or asymptomatically but carries a high risk of miscarriage, stillbirth, premature birth, and severe forms in newborns – sepsis and meningoencephalitis. Neonatal listeriosis is divided into early (within 6 days after birth) and late (7-28 days after birth). Early neonatal listeriosis is most often transmitted transplacentally, while late listeriosis may result from infection during delivery or in a medical facility. Upon detection of listeriosis cases in maternity institutions, investigation of infection sources and strict sanitary-epidemiological measures are required. In Russia, there are no methodological guidelines for investigating listeriosis cases or clinical recommendations for managing pregnant women and newborns with this infection. Conclusion. This article presents a clinical example of neonatal listeriosis to demonstrate the importance of knowledge about this infection in routine clinical practice. It describes a case of premature birth in a 38-year-old pregnant woman at 31 weeks of gestation, resulting in a preterm girl with respiratory failure. In the NICU, the child was diagnosed with severe septic neonatal listeriosis with meningitis. After comprehensive drug therapy, the child showed symptom regression and positive laboratory dynamics. On day 45, the child was discharged from the hospital in satisfactory condition.
Objective. This study aims to evaluate the effect of Thiocetam on cognitive function in patients with type 2 diabetes mellitus in real-world clinical practice. Material and methods. The TIOKON observational, non-interventional, comparative study of Thiocetam in patients with type 2 diabetes mellitus and cognitive impairment in real-world clinical practice included 438 patients with type 2 diabetes mellitus, metabolic syndrome, and mild cognitive impairment. Group 1 patients (n = 133) received standard therapy alone for type 2 diabetes mellitus and comorbidities; Group 2 patients (n = 147) received therapy incorporating of a drug containing piracetam and thiotriazoline into the treatment regimen (intramuscularly for 2 weeks, followed by 2 tablets 3 times daily for 6 weeks); Group 3 patients (n = 158) received Thiocetam (2 tablets 3 times daily) for 8 weeks. The nature of complaints, cognitive functions, carbohydrate and lipid metabolism parameters, and the occurrence of adverse events were assessed. Results. During treatment, patients in Groups 2 and 3 exhibited improvements in memory, concentration, and cognitive performance. Subjective improvement, manifested as a reduction in the number and severity of complaints, occurred earlier in Group 2 patients (upon completion of the intramuscular injection course). MoCA scores increased from 22.3 ± 1.9 to 27.5 ± 0.9 in Group 2 (p < 0.05) and to 27.9 ± 0.8 in Group 3 (p < 0.05). Statistically significant differences compared to baseline and Group 1 were observed in Groups 2 and 3 at Visit 3 (with no significant differences found between Groups 2 and 3). By the end of the follow-up period, levels of glycated hemoglobin (p < 0.05), capillary blood glucose (p < 0.05), and low-density lipoprotein cholesterol (p < 0.05) had significantly decreased. An earlier onset of effect was observed in patients who underwent intramuscular therapy. Regardless of the route of administration, no serious adverse events occurred. The majority of Group 2 patients rated the treatment outcomes as good or very good. Conclusion. The drug has demonstrated efficacy and safety in patients with type 2 diabetes mellitus, metabolic syndrome, and mild cognitive impairment and can be widely utilised for the management of this patient population.
Background. Chronic heart failure and type 2 diabetes mellitus remain among the most common chronic diseases, characterized by a progressive and prognostically unfavorable course. The comorbidity of type 2 diabetes mellitus and chronic heart failure represents one of the most complex diagnostic and therapeutic challenges in modern cardiology and endocrinology, representing one of the most pressing issues in modern clinical medicine. Epidemiological data from recent years indicate a steady increase in the number of patients with this combination of pathologies, driven by a common pathogenetic continuum. Comorbidity significantly alters the natural history of both diseases; in this case, type 2 diabetes mellitus not only increases the risk of chronic heart failure developing by 4-8 times compared to the general population but also modifies its phenotype. Moreover, the clinical picture is often subtle or atypical due to the presence of autonomic cardiovascular neuropathy and the phenomenon of "silent" myocardial ischemia secondary to hyperglycemia. Traditional diagnostic approaches, primarily relying on left ventricular ejection fraction, have low sensitivity for detecting preclinical stages of cardiovascular disease in this patient population. This leads to delayed initiation of therapy and a high rate of hospitalization. Therefore, studying biomarkers of inflammation, endothelial dysfunction, and fibrosis in patients with type 2 diabetes mellitus and chronic heart failure is an important research objective for early diagnosis, accurate risk stratification, and monitoring the effectiveness of prescribed therapy. Objective. The present study aims to synthesize available evidence by conducting a comprehensive analysis of the diagnostic value of routine and advanced laboratory parameters in patients with verified type 2 diabetes mellitus and concomitant chronic heart failure of varying severity, in order to optimize screening and prognostic algorithms.
Background. Aortic dissection is a serious and life-threatening disease, the diagnosis of which in some cases is difficult in the daily clinical practice of cardiologists, both outpatient and inpatient. Without timely surgical intervention, mortality in acute aortic dissection reaches 50% within the first 48 hours. Surgical intervention is the recommended treatment for acute aortic dissection. Materials and methods. In the presented clinical case of a 70-year-old patient, aortic dissection was characterized by a low-symptom course and difficulties in making a diagnosis during routine general clinical studies. During multispiral computed tomography of the left atrium and pulmonary veins with Ultravist-370 contrast, the expansion of the thoracic aorta in the ascending section up to 53 × 57 mm, in the descending section up to 39 × 38 mm was determined, with the presence of dissection of the thoracic aortic wall throughout and the formation of a thrombosed false canal ending at the level of the Th6 vertebra, which corresponded to the signs dissecting thoracic aortic aneurysm, DeBakey I type with spread to brachiocephalic vessels. When conducting multispiral computed angiography of the cerebral arteries and brachiocephalic arteries with Ultravist-370 contrast, signs of a dissecting thoracic aortic aneurysm, type according to DeBakey I, with a spread to the brachiocephalic trunk with compression of the true lumen throughout up to a maximum of 1.2 mm, to the right subclavian artery, the right common carotid artery, ending in at the level of the C7 vertebra, as well as atherosclerotic lesions of the brachiocephalic artery with stenosis of up to 27% in the extracranial region of the left superior carotid artery. The patient was transferred to the department of cardiovascular surgery of the specialized hospital, and the operation was successfully performed – resection of the aorta with prosthetics and plastic branches. Conclusion. A special feature of the presented clinical case is the identification of aortic dissection as an accidental finding during transthoracic echocardiography, which allowed for a timely assessment of the severity of the pathology and referral of the patient for successful surgical treatment.
Background. Cystic fibrosis (CF) is a multisystem disease in which liver involvement occurs in 20-40% of patients. The introduction of CFTR modulator therapy has substantially improved the prognosis of patients with CF; however, patients with established cirrhosis have typically been excluded from clinical trials, which limits the evidence base and underscores the need to collect and publish data on the use of these agents in this patient group. Materials and methods. We report a case with an unfavorable outcome in a 19-year-old patient with CF-associated Child-Pugh class B cirrhosis complicated by portal hypertension and a previous episode of esophageal variceal bleeding. Triple CFTR modulator therapy with elexacaftor + tezacaftor + ivacaftor/ivacaftor was initiated as a life-saving measure at a reduced dose in order to stabilize the patient until a decision on liver transplantation could be made. However, following subjective improvement in respiratory status, the patient was lost to specialist follow-up for approximately two years, during which liver function was not monitored and the transplant workup was not advanced; this culminated in decompensation of cirrhosis (Child-Pugh class C), multiorgan failure, and death. Conclusion. This case demonstrates that in severe CF-associated liver disease the safety of highly effective targeted therapy depends not only on the choice of drug and the dosing regimen, but also on the continuity of specialist follow-up, regular assessment of liver function, timely adjustment of treatment and transplant strategy, and the patient's adherence to follow-up.
Background. Chemical carcinogenesis is currently considered one of the main causes of malignant neoplasms. Somatic mutations caused by chemical carcinogens interacting with cellular DNA are the main factor in the generation of cancer cells. The most common chemical carcinogens are components of tobacco tar, which cause lung cancer. The high incidence of lung cancer in smokers is directly related to tobacco smoke carcinogens such as 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone and benzo[α]pyrene. These compounds are often used to model lung cancer in mice and to screen for oncoprotective drugs. Other chemical carcinogens frequently used in cancer modeling in experimental animals include nitrosomethylurea and urethane (ethyl carbamate). Objective. To evaluate the oncoprotective and hepatoprotective effects of low molecular weight chitosan administered enterally as an aqueous solution in a model of chemical carcinogenesis in rats induced by high doses of ethyl carbamate (urethane). Materials and methods. Sixteen Wistar rats, 3 months old, with an average body weight of 240-250 g, were studied. All animals were divided into two groups, experimental and control, with 8 animals in each group. To induce carcinogenesis, all animals were administered a 10% aqueous urethane solution weekly (a course of 4 administrations). A single subcutaneous dose of 1,000 mg per 1 kg of body weight was administered on the first and second weeks. A single intraperitoneal dose of 1,000 mg per 1 kg of body weight was administered on the third and fourth weeks. Starting from the day following the last administration of the carcinogen, the animals of the experimental group were given free access to drinking water in the form of a 0.05% aqueous solution of low-molecular-weight chitosan, while the animals of the control group were given drinking water. After 3 months, all animals were euthanized by an overdose of ether anesthesia. Lungs and liver were isolated from the animals of the experimental and control groups for histological examination. Slides with sections were scanned on a KF-PRO-005 histopathological microscope scanner (Konfoong Biotech International Co., Ltd). Statistical processing of the results was performed using Statistica10.0 software. Results. Daily enteral administration of a 0.05% aqueous solution for 3 months after the induction of carcinogenesis by high doses of urethane to Wistar rats allows for a 15% decrease in the volume density of lung adenocarcinoma compared to the control. Moreover, the volume density of hepatocytes in the fatty degeneration state of the experimental rats was almost two times lower than that of the control animals. This demonstrates the high hepatoprotective potential of low-molecular-weight chitosan. It is particularly important that lymphocyte and macrophage infiltration was observed in lung adenocarcinoma samples. No such infiltration was observed in control animals. Conclusion. These studies provide direct evidence of the anticarcinogenic effect of the low-molecular-weight fraction of chitosan. The use of low-molecular-weight chitosan allows this product to be considered not only as a highly effective means of inhibiting carcinogenesis and preventing malignant tumors, but also as a promising tool for enhancing the effectiveness of malignant tumor treatment with monoclonal antibodies through activation of the cellular immune system.
Background. Obstructive sleep apnea syndrome (OSA) is a widespread chronic disorder characterized by recurring episodes of complete (apnea) or partial (hypopnea) collapse of the upper airway during sleep, leading to intermittent hypoxemia, hypercapnia, sleep fragmentation, and sympathetic nervous system activation, which can subsequently lead to adverse cardiovascular events. Results. According to global epidemiological studies, approximately 1 billion people worldwide suffer from OSA, with the prevalence among adults aged 30-60 reaching 24% in men and 9% in women. Importantly, a large proportion of cases remain undiagnosed, due both to physicians' lack of awareness and the absence of typical complaints in some patients. The key pathogenetic factor is a decrease in the tone of the pharyngeal dilators during sleep, which, coupled with negative intraluminal pressure, leads to airway collapse. The clinical picture is divided into nocturnal symptoms (loud intermittent snoring, pauses in breathing reported by a partner, restless sleep, nocturia, night sweats, and choking) and daytime manifestations (excessive sleepiness, morning headache, dry mouth, decreased cognitive function – memory, attention, and executive function – as well as irritability, depression, and decreased libido). Various questionnaires are used for screening: the STOP-BANG (sensitivity up to 90% with a threshold of ≥ 3 points), the Epforth Sleepiness Scale, and the Fatigue Severity Scale (FSS). Physical examination includes assessment using the Mallampati scale (visualization of the oropharynx), the Friedman classification, and nasopharyngoscopy with the Müller maneuver. Polysomnography (PSG) with video monitoring remains the gold standard for instrumental diagnostics, allowing for differentiation of sleep phases, recording oxygen desaturations, and cardiac arrhythmias. An alternative is cardiorespiratory monitoring (CRM), which does not assess sleep structure but is quite informative in severe cases and can be performed on an outpatient basis. Basic treatment measures include weight loss, positional therapy (avoiding sleeping on the back), and abstinence from alcohol and sedatives. Conclusion. A modern and most effective treatment is CPAP (continuous positive airway pressure), which relieves obstruction, normalizes oxygen saturation, reduces the apnea-hypopnea index, and decreases daytime sleepiness.
Background. Kikuchi – Fujimoto's disease (histiocytic necrotizing lymphadenitis) is an extremely rare disease of the lymphatic system, often with a benign course. Despite numerous studies in the literature, the etiology of the disease is still unclear, and therefore the registration of all clinical cases of the disease is of great importance. Objective. The aim of the study was to describe a clinical case of Kikuchi – Fujimoto's disease in a 5-year-old boy. Materials and methods. In describing the clinical observation, clinical, anamnestic and laboratory methods of dynamic research were used, as well as an analysis of medical documentation (child's developmental history, outpatient medical record, inpatient medical record) of the patient. Results. The article discusses a clinical case of Kikuchi – Fujimoto's disease in a 5-year-old boy hospitalized for inguinal lymphadenitis. The disease began acutely with a single rise in temperature to febrile numbers and the appearance of a painful formation in the right groin area. In the hospital, the child underwent inguinal lymphadenectomy on the right, the biopsy surgical material was sent for microscopic and immunohistochemical examination, which revealed signs specific to histiocytic necrotizing lymphadenitis. It is known from the patient's life history that the boy is the third child in the family. Allergic diseases, pathology of the gastrointestinal tract and arterial hypertension, burden heredity. All the patient's relatives are Russian by nationality. From the patient's life history, it is noteworthy that the mother was allegedly infected with the SARS-CoV-2 coronavirus during pregnancy. Conclusion. The described clinical case is the first case in the Russian Federation in a male preschool child with a rare localization of lymphadenitis and expands the understanding of the etiology of Kikuchi – Fujimoto's disease, including new demographic and diagnostic characteristics. The described clinical observation of a patient with Kikuchi – Fujimoto's disease confirms the need for further study of the nature of this disease in order to develop ways to prevent it and prevent recurrence of purulent-necrotic lymphadenitis.
Background. False aneurysms of peripheral arteries represent one of the most challenging types of combat vascular injuries in modern armed conflicts. These injuries are characterized by a prolonged latent period, a risk of secondary hemorrhage, thrombosis, nerve trunk compression, and infectious complications. Being a direct continuation of the subclavian artery, the axillary artery closely interacts throughout its course with the brachial plexus, the cords of which surround the vessel circumferentially. Such localization renders the artery vulnerable not only to primary injury but also to the development of secondary pathological changes, such as pseudoaneurysms. A pseudoaneurysm is a cavity communicating with the arterial lumen, contained by surrounding tissues (a fibrous capsule) and thrombotic masses rather than a true vascular wall. Unlike true aneurysms, pseudoaneurysms lack all three layers of the arterial wall. Pseudoaneurysms result from a transmural or tangential injury to the vessel wall, with subsequent blood extravasation into perivascular tissues and the formation of a pulsating hematoma which may subsequently become thrombosed, encapsulated, or suppurated. Objective. To present a clinical case of successful diagnosis and surgical correction of a thrombosed false aneurysm of the axillary artery with complete vessel rupture and brachial plexus compression in a serviceman. Results. A 29-year-old serviceman presented with numbness in the fingertips of the left hand one month after a shrapnel wound to the left shoulder. Ultrasound examination revealed a thrombosed false aneurysm of the axillary artery with a 1 cm diastasis between the stumps. Surgery was performed: resection of the damaged segment and autovenous bypass grafting using a reversed great saphenous vein. The postoperative period was uneventful, and the neurological deficit was completely resolved. Conclusion. This case demonstrates the effectiveness of a staged approach utilizing ultrasound diagnostics and reconstructive surgery in a military field hospital setting. Timely correction of the false aneurysm allowed for the restoration of main blood flow and prevention of severe neurological deficit.
Background. Primary hyperaldosteronism is one of the most common causes of secondary arterial hypertension. Diagnosis of primary hyperaldosteronism includes three stages: screening, confirmatory functional test, determination of the subtype of the disease – with lateralization, without lateralization. Differential diagnosis of the main forms of primary hyperaldosteronism is a difficult task for both endocrinologists and surgeons, as it is a determining criterion for surgical intervention. The adrenal venous sampling is the gold standard for the differential diagnosis of nosological forms of primary hyperaldosteronism. The use of adrenal androgen levels as criteria for the correctness of the adrenal venous sampling has certain advantages over cortisol. The concentration of androgens is much less susceptible to stress influences and does not change with the combined production of aldosterone and cortisol by the tumor. The presence of bilateral mass formations of the adrenal glands with confirmed primary hyperaldosteronism requires adrenal venous sampling, since only one of the adenomas can be hormonally active. Alternative methods for aldosterone verification, 11C-methomidate PET-CT and etc., have not yet been widely used. Conclusion. We present a clinical case of a patient with bilateral adrenal adenomas and primary hyperaldosteronism, after the adrenal venous sampling, right-sided lateralization of the source of aldosterone hypersecretion was confirmed, which made it possible to recommend surgical treatment.
Background. This analytical review examines the development of chronic heart failure with preserved ejection fraction (CHF-pEF) in perimenopausal women. The focus is on left ventricular diastolic dysfunction (LVD) as a central pathogenetic factor and a key predictor of CHF-pEF in this population. Materials and methods. The main content includes an analysis of the pathophysiological mechanisms linking estrogen deficiency with the development of LVDD (endothelial dysfunction, RAAS activation, myocardial fibrosis, and calcium homeostasis disturbances). Epidemiological data on the high prevalence of LVDD in women during the menopausal transition are presented. Modern early diagnostic methods, primarily echocardiographic (tissue Doppler, e', E/e' indices, left atrial volume index, strain echocardiography), and their prognostic value are discussed in detail. The role of biomarkers (NT-proBNP, fibrosis markers) and complex algorithms for risk stratification are discussed. Results. The novelty of this material lies in its comprehensive and focused examination of perimenopause as a unique "window of vulnerability" for the development of LVDD, combining data on hormonal, metabolic, and cardiovascular changes. Particular attention is paid to gender-specific aspects of the pathophysiology and phenotype of cardiac remodeling; the early, often asymptomatic stages of LVDD preceding the manifestation of CHF-EF; and the potential of preclinical diagnostic approaches, including new echocardiographic technologies (strain analysis, diastolic strain rate) and biomarker panels. Conclusion. This review not only summarizes current knowledge on the relationship between menopause, LVDD, and CHF-EF but also formulates a pressing scientific and practical challenge: moving from the recognition of the high prevalence of the problem to the active search for and implementation of methods for early detection and preventive intervention in a target group of women.
Objective. To analyze the clinical heterogeneity of congenital renal hypoplasia and to evaluate the available data on possible ocular manifestations associated with this pathology in order to substantiate an interdisciplinary approach to patient management. Materials and methods. A literature search was conducted in the PubMed, Google Scholar, Cyberleninka, and GeneReviews databases for the period 2013-2025 using keywords reflecting the association between congenital kidney anomalies and ophthalmic pathology. The final analysis included 21 sources that met the inclusion criteria (original studies, systematic reviews, case reports, and handbook chapters). Results. Congenital renal hypoplasia is characterized by significant heterogeneity, ranging from an asymptomatic course to progressive chronic kidney disease, with variable age of manifestation and frequent associated malformations (68.4% in the pelvis, 21.5% in the thoracic cavity). Approximately 54% of genes associated with congenital anomalies of the kidney and urinary tract (CAKUT) have described ophthalmic manifestations. Five of the six most common CAKUT genes (PAX2, EYA1, SALL1, GATA3, PBX1) are associated with ocular anomalies. The review details the ophthalmic phenotypes in syndromes that include renal hypoplasia: papillorenal syndrome (PAX2) – optic disc dysplasia; SALL4-related disorders (Duane-radial ray syndrome) – Duane anomaly, coloboma; Townes-Brocks syndrome (SALL1) – Duane anomaly, iris coloboma; branchiooculofacial syndrome (TFAP2A) – microphthalmia, coloboma, cataract. Data on systematic ophthalmological examination of patients with isolated (nonsyndromic) congenital renal hypoplasia are absent in the literature; however, the high expression of renal genes in ocular tissues suggests the possibility of subclinical changes. Conclusion. Congenital renal hypoplasia is often a component of systemic embryogenesis disorders. Ocular symptoms (coloboma, Duane anomaly, optic disc dysplasia, etc.) can serve as important diagnostic markers for specific genetic syndromes. Including ophthalmological screening in the examination protocol for children with congenital renal hypoplasia appears justified for the early detection of hidden visual abnormalities and the optimization of interdisciplinary patient management.
Background. The article presents two clinical cases of familial hypocalciuric hypercalcemia type 1 among members of the same family. The diagnosis was initially made to the mother at the age of 46, and later to her son. In the mother, hypercalcemia against the background of a moderate increase in parathyroid hormone was first recorded at the age of 43, the condition was regarded as primary hyperparathyroidism. The patient underwent surgical treatment twice for parathyroid tumors, which were not successful. She also received conservative therapy with zoledronic acid and cinacalcet, which was not sufficiently effective. The patient was examined at the age of 16 years due to complaints of lower back pain; during the examination, hypercalcemia was revealed against the background of a moderate increase in parathyroid hormone. Having read the burdened hereditary history, a molecular genetic study was carried out, according to the results of which a heterozygous pathogenic variant c.554G>A (p.Arg185Gln) was identified in the CASR gene; a similar variant was identified in the patient’s mother. Based on clinical and laboratory examination, patients were diagnosed with familial hypocalciuric hypercalcemia type 1. Conclusion. In patients with newly diagnosed hypercalcemia against the background of a moderate increase in parathyroid hormone, provided that the filtration function of the kidneys is preserved, a mandatory study of the calcium/creatinine clearance ratio and a careful collection of family history are necessary. Genetic verification of familial hypocalciuric hypercalcemia includes a study of the CASR gene, and if there are no mutations in it, an additional analysis of GNA11 and AP2S1. We demonstrated two clinical cases of a mother and son with familial hypocalciuric hypercalcemia type 1 and highlighted the problem of differential diagnostic search for hyperparathyroidism and the choice of further tactics. Considering that the disease with the same mutation can have a different course, including the development of neonatal severe hyperparathyroidism, patients' families require genetic counseling to plan pregnancy and prevent severe conditions in newborns.
Background. The aim of this study is to evaluate the efficacy and safety of initiating a classical ketogenic diet in infants with epileptic encephalopathies using the specialized formula. Materials and methods. A single-center prospective observational study included 14 infants with drug-resistant epileptic seizures. A genetic etiology was confirmed in 9 patients, including 2 children with glucose transporter 1 deficiency syndrome. The ketogenic diet was initiated in a hospital setting with gradual replacement of feedings with a specialized ketogenic formula used off-label outside the approved age. The dietary energy value and the ketogenic ratio were tailored individually. The follow-up period was 6 to 12 months. Changes in seizure frequency, diet tolerability, blood ketone levels, acid-base status, and physical development of the children were evaluated. Results. Seizure freedom was achieved in 2 children with GLUT1 syndrome (14.3 %). A 75-99% reduction in seizure frequency was observed in 4 patients (28.6%), and a 50-74% decrease in 6 children (42.9%). Two patients (14.3%) demonstrated a reduction in seizure frequency of less than 50%. Thus, a clinically meaningful response, defined as a reduction in seizure frequency of at least 50%, was achieved in 12 out of 14 children (85.7%). No serious adverse events or diet discontinuation due to intolerance were reported. Some patients developed transient metabolic acidosis, which resolved following ketogenic ratio adjustment and anticonvulsant therapy modification. No negative trends in physical development were observed. Conclusion. Early initiation of a ketogenic diet in infants with epileptic encephalopathies was associated with a significant reduction in seizure frequency and satisfactory tolerability. The use of specialized nutrition support facilitates adherence to the calculated ketogenic ratio and dietary management in infants. Safe implementation of nutrition therapy requires an inpatient initiation, individualized nutritional formulas, and routine clinical and laboratory monitoring.
Objective. To analyze the current epidemiological and clinical features of hepatitis E virus infection, as well as to assess trends in incidence and diagnostic challenges of hepatitis E virus infection in the Russian Federation. Materials and methods. An analysis of scientific publications and epidemiological data on hepatitis E virus infection was conducted, including data on officially registered incidence in the Russian Federation for the period 2019-2025. Data from seroepidemiological studies and published materials on the clinical course and risk factors of hepatitis E virus infection were also reviewed. Results. Recent years have shown significant changes in the epidemiological characteristics of hepatitis E virus infection. While previously the disease was primarily considered endemic to tropical and subtropical regions, autochthonous cases not associated with travel to endemic areas are now increasingly reported in Europe, North America, and the Russian Federation. In economically developed countries, the zoonotic route of transmission plays a leading role, mainly associated with the consumption of insufficiently cooked animal products, particularly pork and game meat. Domestic and wild pigs, as well as wild boars, serve as the main reservoirs of the virus. Analysis of epidemiological data in the Russian Federation for 2019-2025 demonstrated a decrease in registered cases in 2020-2021, likely associated with the COVID-19 pandemic and reduced population mobility. Since 2022, a gradual increase in incidence has been observed, which may be attributed to the restoration of migration processes and expansion of laboratory diagnostics for hepatitis E virus infection. Seroepidemiological studies reveal a significant discrepancy between officially reported incidence and the true prevalence of infection. Antibodies to hepatitis E virus are detected in approximately 9.7% of the population in the European part of the Russian Federation, reaching up to 16.4% in certain regions. Among older age groups, seropositivity may reach 28-35%, indicating widespread asymptomatic infections. The clinical course of hepatitis E virus infection is polymorphic, ranging from mild forms to severe hepatitis with liver failure. The highest risk of adverse outcomes is observed in patients with chronic liver disease, immunodeficiency conditions, and comorbidities. Diagnostic challenges are further complicated by the nonspecific clinical presentation and the limited inclusion of anti-hepatitis E virus IgM and IgG testing in routine diagnostic algorithms for patients with liver injury. Conclusion. Hepatitis E virus infection represents a significant and underestimated problem in modern clinical medicine. The increasing number of autochthonous cases and the high prevalence of asymptomatic infections highlight the need to improve clinical awareness among physicians. Expanding laboratory diagnostics, including testing for anti-HEV IgM and IgG in patients with cytolysis syndrome of unclear etiology, is essential for timely identification of hepatitis E virus infection.
Background. Measles is one of the infections that have become more prevalent in the post-pandemic period. This highly contagious disease, characterized by a high risk of severe symptoms and complications, is now being reported more frequently, including in adults, and has acquired a number of clinical and laboratory features. Studying the current clinical manifestations of measles in adults and children will help improve the effectiveness of measures to combat this infection. Objective. Analysis of the current clinical manifestations of measles in patients of an infectious hospital during a tense epidemiological situation in the Kemerovo Region-Kuzbass. Materials and methods. A retrospective analysis of the clinical and laboratory manifestations of measles in patients of an infectious hospital with a verified diagnosis was carried out. The blood was tested for IgM antibodies to the measles virus using the ELISA method using the VektoKor-IgM test systems produced by Vector-Best (Russia). The protocols of the laboratory test results of the Testing Laboratory Center of the Federal State Budgetary Institution "Center for Hygiene and Epidemiology in the Krasnoyarsk Region" were used. Statistical analysis of the data was performed using the MedStat software.Pro v0.9.4 (Russian Federation). The normality of the distribution was checked using the Shapiro – Wilk criterion. To assess the accuracy of the proportion determination, a 95% confidence interval (95% CI) was constructed using the Wilson score interval. The statistical significance of the differences was assessed using the exact Fisher criterion or the chi-squared criterion (with the Yates correction for expected frequencies of less than 5). The level of statistical significance was taken at p < 0.05. Results. Unvaccinated patients prevailed in the structure of measles patients. Contacts were established in 80.3%. Children accounted for 60.66%, adults – 39.34%. A directional diagnosis in 66% did not suggest measles. The clinical picture corresponded to the typical course. Classical periods were traced in 83.6% of patients. Belsky – Filatov – Koplik spots were detected in 24.6%. The stage of the rash was recorded in 93.4%. The hemogram showed a moderate increase in ESR, leukopenia, relative lymphocytosis, and thrombocytopenia in adults, and normocytosis in children. The increase in CRP was observed in 72%, and a transient increase in liver enzymes was observed in 50% of adults (1.5-5 times the normal value or higher) and 60% of children (1.5-3 times the normal value). In complex therapy, human recombinant interferon alpha-2b with antioxidants (vitamins C and E) was used in the form of rectal suppositories in age-appropriate doses. The course of the disease was smooth, and complications were not observed. Conclusion. The emergence of measles outbreaks is associated with low vaccination coverage, high contact rates, and imported cases. The clinical presentation of measles is typical. In adults, the main symptoms are significantly more pronounced. Laboratory tests confirm the viral nature of the disease and reveal transient changes in liver enzymes, which are more pronounced in adults. The main preventive measures should focus on increasing vaccination coverage and strengthening epidemiological surveillance in the context of interregional population mobility.
Background. Non-alcoholic fatty liver disease is currently a pressing interdisciplinary problem in modern medicine. Currently, there is no doubt that this pathology is closely associated with the development of cardiovascular diseases. These interactions are particularly relevant when considering the development and course of post-infarction cardiac remodeling. Objective. The purpose of this study was to evaluate the characteristics of the formation and dynamics of morphofunctional cardiac parameters in patients who had a history of ST-segment elevation myocardial infarction in the presence of associated non-alcoholic fatty heart disease. Materials and methods. The study included 81 patients who had a history of STEMI. According to the aim of the study, all patients were divided into 2 groups: the first group (n = 59) consisted of patients with STEMI and non-alcoholic fatty liver disease; the second group (n = 22) consisted of patients with STEMI without signs of non-alcoholic fatty liver disease. Results. According to the study results, echocardiographic parameters recorded in the first 24 hours after STEMI in individuals with non-alcoholic fatty liver disease were characterized by higher atrial volumes, left ventricular posterior wall thickness (LVSTd ), and epicardial fat thickness compared to patients without liver disease. Significant changes in the geometric properties of the LV were also observed, including increased sphericity index and LV wall stress. One month after STEMI, statistically significant increases in left ventricular size, volume, sphericity, and LV myocardial mass were observed, along with a decrease in global contractility, as measured by the ejection fraction, in individuals with associated non-alcoholic fatty liver disease. Conclusion. The presence of concomitant non-alcoholic fatty liver disease is associated with the formation of more pronounced structural and functional changes in the myocardium and the development of unfavorable geometric characteristics of the left ventricle in patients on the first day of STEMI, which worsen during the first month after the coronary accident.
Background. The incidence of urogenital disorders in women aged 55-70 years reaches 30-75%. This is a complex of vaginal and urinary symptoms, the development of which is a complication of age-related processes in estrogen-dependent tissues and structures of the lower urinary tract and reproductive tract.Objective. To study the effectiveness of the dietary supplement, containing a complex of natural plant substances – D-mannose, cranberry type A proanthocyanidins and vitamin C, in patients with recurrent lower urinary tract infections during the postmenopausal period.Materials and methods. The study included 90 postmenopausal patients with recurrent urinary tract infection. The main group consisted of 46 patients, the control group – 44 patients (average age 59.3 ± 5.3 years). Patients of the main group were prescribed antimicrobial therapy for exacerbations (fosfomycin trometamol in a dose of 3 g once) + dietary supplement Cystenium II, containing a complex of natural plant substances, which was used 1 tablet 2 times a day with meals for 3 months. Patients in the control group received standard antimicrobial therapy in case of exacerbation of urinary tract infection. The results were assessed 1 month after the start of therapy and 6 months later.Results. During the study, all patients of the main group (46 women), who used the Cystenium II dietary supplement as part of treatment, together with antimicrobial therapy during an exacerbation of infection, noted a significant improvement in both general well-being and local symptoms not only at visits 1 month after the start of taking the drug, but also during the entire observation period after 6 months. As a result of the active anti-inflammatory, protective action, and the presence of vascular effects of the components of the dietary supplement, not only the general condition of the patients improved, according to LDF data, positive dynamics were noted at the level of microcirculation of the tissues of the bladder wall and urethra and, as shown by ultrasound Dopplerography, venous congestion in the pelvic organs and paraurethral plexus is reduced. The use of the dietary supplement allowed not only to significantly reduce the rate of asymptomatic bacteriuria among women in the main group, but also the number of relapses of cystitis over 6 months of observation from the start of therapy. An important predisposing factor in the development of recurrent urinary tract infection in postmenopausal women is the state of the hormonal background, which entails metabolic, local immune changes, and disorder of pelvic hemodynamics as a whole. Adequate blood supply, including venous, is also one of the main prerequisites for the normal functional activity of the mucous membrane of the urogenital area and bladder. The active components included in the dietary supplement not only help improve the hemodynamics of the bladder and urethra, but also have a protective, anti-inflammatory effect, as evidenced by a 4-fold decrease in the number of urinary tract infection relapses in patients of the main group over 6 months of observation.Conclusion. The results obtained indicate the high therapeutic effectiveness of the dietary supplement, containing a complex of natural plant substances, both for complex therapy and for the prevention of relapses of lower urinary tract infections in patients, including during the postmenopausal period.
