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. This paper presents a clinical case of successful surgical treatment of a shrapnel wound to the left third zone of the neck in a serviceman who was wounded while performing a combat mission in a special military operation zone. Case Description. Four hours after the injury, upon admission to a level-two military field hospital, the patient was diagnosed with a tense hematoma in the projection of the carotid bifurcation. A diagnostic algorithm, including radiography and ultrasound angioscanning, revealed a foreign body at the level of the fifth cervical vertebra and a pulsatile hematoma. Considering the risk of bleeding, the medical team decided to perform surgery. Intraoperatively, after proximal inspection of the main vessels, a rupture of the sternocleidomastoid artery was identified as the source of the bleeding, and its stumps were ligated. Subsequent exploration of the wound channel resulted in the removal of a metal fragment. The postoperative period was uneventful, and the patient returned to duty on the 30th day. Conclusion. This observation demonstrates the effectiveness of a staged approach using modern diagnostic methods and surgical tactics aimed at preventing life-threatening complications from neck wounds.
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. Coverage of the work of the legendary physician and mentor is necessary to maintain the continuity of generations and traditions in medicine. The article provides information about the life, medical and pedagogical work of the outstanding pediatrician, Honored Doctor of the Russian Federation Alexandra Efimovna Ambrosova - Сandidate of Medical Sciences, Associate Professor of the Department of Childhood Diseases (1961 - 1987) of the Irkutsk State Medical Institute. Results. A.E. Ambrosova's working life is entirely connected with pediatrics - she is a district pediatrician, neonatologist, head of the children's clinic, and head of the infectious diseases department of the Irkutsk City Children's Hospital (now the Ivano-Matreninskaya Children's Hospital). She worked as a freelance pediatric infectious disease specialist in the Irkutsk region, the Buryatia, and the Zabaykalsky Krai, participating in the response to 140 infectious disease outbreaks. Alexandra Efimovna focused on breastfeeding and proper child care, disease prevention in children, and enhancing children's resistance to infections. Topic of the candidate's dissertation «Features of the clinical course and diagnosis of dysentery in young children in combination with acute respiratory viral diseases». A.E. Тhe author of over 30 published scientific and educational works on pediatrics. As an assistant in the Department of Pediatric Diseases at Irkutsk State Medical Institute, A.E. Ambrosova carried out extensive work training future pediatricians in their sub-residency and clinical residency programs. Among her students are renowned, highly professional pediatricians from Irkutsk and the Irkutsk region. Conclusion. Alexandra Efimovna Ambrosova left a significant mark on the development of the Irkutsk pediatric school. She is one of the founders of the Faculty of Pediatrics. She was awarded the honorary title of "Honored Doctor of the Russian Federation." She has received awards for valiant work during the Great Patriotic War and for outstanding labor.
Introduction. The presence of daughter aneurysms is a factor of increased risk of rupture of the parent aneurysm sac. Increased wall shear stress of the aneurysm, caused by the impact of the blood flow against the aneurysm wall, leads to local damage of the latter and, consequently, to the formation of a daughter sac. A literature search in various scientific databases showed a limited number of studies investigating the above scientific hypothesis. Aim. To study the hemodynamics and growth of daughter cerebral aneurysms using an individual mathematical model. Materials and methods. Thirty-eight aneurysms with 50 daughter sacs were studied. The selected aneurysms varied in size and location. The mathematical model is based on the assumption that when an aneurysm reaches a state of imminent rupture, the weakest area of the aneurysm wall passively responds to a surge of intra-aneurysmal pressure by forming a daughter aneurysm that will be the site of the eventual rupture. The daughter and parent aneurysms were assumed to be spherical. Using mathematical modeling, the growth of the daughter aneurysm was observed. To determine the change in tensile stress in the daughter aneurysm wall under conditions of constant pressure and changing geometry, the Law of Laplace was applied to the parent and daughter aneurysms. Results. Aneurysm rupture occurs at specific combinations of the coefficients λ and μ. The higher the λ (3.2–4.5), the lower the critical μ (0.02–0.05), and vice versa. The highest risk of rupture is characteristic of aneurysms of the middle cerebral artery (p=0.008) and the anterior communicating artery (p=0.014). Aneurysms of the posterior communicating artery and the ophthalmic segment of the internal carotid artery have a significantly lower risk of rupture (p<0.001). During dynamic follow-up, significant aneurysm growth due to the daughter sac occurred only in cases with high λ values (3.4–4.1) and specifically in aneurysms of the middle cerebral and anterior communicating arteries. Conclusion. The critical values of the aneurysm's orifice coefficient (μ) and aspect ratio (λ) can serve as determining risk factors for rupture and act as crucial guidelines when deciding on the suitability of surgical treatment.
Relevance. Epilepsy and sleep disorders are comorbid conditions combined by complex bidirectional pathophysiological relationships. Sleep disorders in patients with epilepsy often go undiagnosed, and existing reviews rarely integrate data on the role of antiepileptic drugs in modulating this relationship. Aim. To systematize and actualize the results of modern clinical and preclinical studies on the relationship between the mechanisms of epilepsy and sleep disorders, to evaluate the role of antiepileptic in modulating these processes, and to justify the need for expanding diagnostic approaches. Materials and Methods. A literature search was conducted in PubMed, Google Scholar, eLibrary.ru, and CyberLeninka databases for the period from 2016 to 2026. Inclusion criteria were original research and systematic reviews in Russian and English covering epilepsy, sleep disorders, and the pharmacology of antiepileptic drugs. Search queries included relevant keyword combinations. After the selection procedure, 40 eligible publications were chosen for analysis. Results. The analysis confirmed a bidirectional relationship between sleep and epilepsy: sleep deprivation and fragmentation of its structure act as powerful triggers of seizures, while interictal epileptiform activity and seizures themselves disrupt the architecture of sleep. Different classes of antiepileptic drugs have different effects on the sleep-wake cycle: they normalize the structure of sleep by suppressing epileptiform activity, or excessively depress the REM sleep phase and cause daytime sleepiness. Conclusion. The choice of antiepileptic therapy should be carried out taking into account the chronobiological profile of the drug and an individual assessment of the patient's sleep characteristics. The presented review highlights the problem of dissomnia disorders in patients with epilepsy through the prism of the pharmacodynamics of antiepileptic drugs, and assesses the relationship between various forms of epilepsy and their characteristic sleep disorders. Understanding the mechanisms linking epilepsy and sleep will help improve seizure control and improve the quality of life for patients with epilepsy.
Background: The coronavirus pandemic has significantly impacted the structure of endocrine pathology in the pediatric population. The COVID-19 pandemic. It is hypothesized that the coronavirus exhibits tropism for pancreatic β-cells, potentially acting as a trigger for the development of type 1 diabetes mellitus. Aim. To analyze the dynamics of hospitalizations of children with newly diagnosed type 1 diabetes mellitus in the intensive care unit and to evaluate the potential correlation between disease manifestation and a history of coronavirus infection. Materials and methods. A retrospective study was conducted on 382 cases of children (aged 1 to 18 years) hospitalized with type 1 diabetes mellitus in the intensive care unit of the Bratsk Children's City Hospital between 2000 and 2025. Starting in 2020, patients underwent polymerase chain reaction testing and enzyme-linked immunosorbent assay tests for antibodies to the coronavirus. Results. A sharp increase in the proportion of type 1 diabetes mellitus patients in the in the intensive care unit was observed, rising from 1.1 % in 2001 to 19.3 % in 2025. During the pandemic period (2020–2025), the average annual number of newly diagnosed type 1 diabetes mellitus cases increased to 14.8 compared to 4.0 in the pre-pandemic period. Positive markers of coronavirus infection were identified in 62 out of 158 primary type 1 diabetes mellitus cases. Conclusion. The statistically significant growth in type 1 diabetes mellitus incidence during the pandemic, coupled with the presence of specific antibodies, supports the role of coronavirus as a trigger for pancreatic tissue damage and subsequent type 1 diabetes mellitus manifestation in children.
Relevance. Benign prostatic hyperplasia remains one of the most common urological diseases and a leading cause of lower urinary tract symptoms in older men. The expanding range of endoscopic, laser, and ultra-minimally invasive interventions requires a structured overview of their historical development and current clinical role. Aim. To analyze the evolution of surgical treatment for benign prostatic hyperplasia from open adenomectomy and transurethral resection of the prostate to contemporary laser and ultra-minimally invasive techniques. Materials and Methods. A narrative review of the literature, recommendations of the European Association of Urology and the American Urological Association, and key meta-analyses was performed. Technical features, advantages, limitations, and the current clinical role of the methods were assessed. Results. Surgical treatment for benign prostatic hyperplasia evolved from open procedures to transurethral resection of the prostate, which long remained the gold standard, and subsequently to bipolar resection and laser techniques, particularly holmium laser enucleation of the prostate, thulium laser enucleation of the prostate, and photoselective vaporization of the prostate. More recently, ultra-minimally invasive approaches, including prostatic urethral lift, water vapor thermal therapy, robotic waterjet ablation, prostatic artery embolization, and a temporarily implanted nitinol device, have expanded the therapeutic armamentarium by reducing invasiveness and better preserving sexual function. However, these methods generally provide less pronounced functional improvement and may be associated with higher retreatment rates. Conclusion. Current surgical treatment for benign prostatic hyperplasia is based on personalized selection according to prostate size and anatomy, symptom severity, comorbidities, and patient preferences. Transurethral resection of the prostate remains a key clinical benchmark; laser enucleation offers comparable efficacy with lower invasiveness, and ultra-minimally invasive therapies broaden the options for tailored care.
Background. Bypass graft selection is one of the most debated and unresolved issues in coronary surgery. The use of the left internal mammary artery for bypass grafting the left anterior descending coronary artery is the "gold standard," but the question of second- and third-order conduits arises. Conduits from the right internal mammary artery, radial artery, right gastroepiploic artery, and, rarely, the inferior epigastric and splenic arteries are considered. Arterial bypass grafts have varying long-term patency results. The great saphenous vein is frequently used, while the umbilical and cephalic veins are less commonly used. The proven advantages of arterial bypass grafts over venous ones often cannot be realized in practice in some patients due to various circumstances. The aim of this report is to demonstrate the long-term results of coronary artery bypass grafting using the radial artery and cephalic vein isolated in one forearm in a patient with limited conduit selection. Case descriptions. In conditions of limited choice of conduit for a patient during coronary artery bypass grafting, the radial artery and cephalic vein, isolated on one forearm, were used. Satisfactory patency of the shunts was demonstrated 3.9 years after surgery. Conclusion. The conclusion result allows us to consider this bypass method acceptable in the absence of other conduits.
Background. False aneurysms of peripheral arteries are a common complication of gunshot and shrapnel wounds in modern combat. However, lesions of the distal branches of the arteries of the foot, in particular the calcaneal branch of the posterior tibial artery, are extremely rare. Case Description. A military serviceman was evacuated to a level 2 military field hospital seven days after a blind shrapnel wound to the right foot and initial surgical debridement with wound suturing due to bleeding. Upon admission, he complained of severe, distending pain and an inability to bear weight on his leg. Ultrasound angioscanning revealed a 2 × 3 cm false aneurysm of the calcaneal branch of the posterior tibial artery. Given the pain, risk of rupture, and infection, surgical intervention was performed: wound exploration, aneurysm excision, and ligation of the afferent and efferent ends of the arterial branch. The postoperative course was uneventful, pain was relieved, and the patient returned to duty on the 30th day. Discussion. This article analyzes the complexities of vascular trauma diagnosis at the frontline stages, treatment strategies depending on the caliber of the injured vessel, and the location of the aneurysm. It is emphasized that when small arterial branches of the foot are damaged and the main blood flow is preserved, ligation is the surgery of choice. Conclusion. This case demonstrates the effectiveness of timely diagnosis and surgical management of a rare pathology in a specialized military field hospital.
Dear readers of the "Baikal Medical Journal"! We present to your attention the autumn issue of the "Baikal Medical Journal".
Relevance. Intervertebral disc degeneration is a natural process of involutional changes that, in some cases, progresses rapidly and intensely, becoming pathological and accompanied by pain. It is one of the most common causes of disability. Existing methods for visually assessing intervertebral disc degeneration are subjective and dependent on the power of the magnetic resonance imaging scanner. Aim: to develop a unified quantitative method for assessing intervertebral disc degeneration. Materials and methods. A prospective, single-center study was conducted involving 20 patients (60 discs) diagnosed with lumbar dorsopathy. Magnetic resonance imaging was performed in DWI mode with the calculation of the degeneration coefficient (X) as the ratio of the measured diffusion coefficient of the nucleus pulposus to the measured diffusion coefficient of the cerebrospinal fluid. Results. When comparing the obtained X-factor values for degeneration of 60 intervertebral discs with the Pfirrmann classification, degenerated discs had an X-factor value less than 0.8, while no signs of degeneration were detected with an X-factor value greater than 0.8. Consequently, the lower the X-factor value, the more severe the degeneration. A comparison of the obtained values did not reveal a direct correlation, due to the subjective nature of signal intensity assessment in T2 mode during magnetic resonance imaging. Conclusions. The X degeneration coefficient is an objective, reproducible parameter independent of tomograph power and suitable for pathology stratification and dynamic monitoring. The proposed method enables quantitative assessment of degenerative changes. The obtained results confirm the fundamental viability and advantages of the proposed degeneration coefficient X. A promising direction for its full validation and implementation in clinical practice is multicenter studies on an expanded cohort of patients.
Relevance. The differential diagnosis of motor neuron diseases is very difficult in practical medical practice. Early diagnosis of this group of diseases, in particular, progressive supranuclear palsy, is of particular importance. In this case, pathognomonic clinical signs and neuroimaging correlates become crucial in verifying the diagnosis. Cases descriptions. Paired clinical observations of progressive supranuclear palsy, differing in signs during magnetic resonance imaging of the brain, are presented. The article describes the clinical observations of two patients with progressive supranuclear palsy (Steele-Richardson-Olshevsky syndrome). Detailed clinical characteristics of each case are presented. The data of a magnetic resonance imaging examination of the brain of each patient are presented. In the first case, the characteristic symptoms of "hummingbird" and "Mickey Mouse" were obtained. In the second case, these signs were not detected. Both patients are under dynamic observation, this allows you to quickly assess changes in the clinical neurological status, the results of treatment and carry out preventive work to prevent dangerous complications of the disease (dysphagia, falls). The discussion presents a differential series for progressive supranuclear palsy and possibilities of quantitative automated and manual planimetry in the analysis of magnetic resonance images of the brain. Conclusion. These approaches to the management of patients with progressive supranuclear palsy contribute to the early diagnosis of the disease, correction of treatment, and prevention of complications.
Relevance. Degenerative lumbar spinal stenosis is a common cause of chronic pain and neurogenic intermittent claudication in elderly and senile patients. Clinical manifestations often do not correlate with the degree of spinal canal narrowing as determined by magnetic resonance imaging, requiring the use of comprehensive diagnostic methods, including electrophysiological ones. Aim: was to conduct a comprehensive analysis of the relationships between magnetic resonance imaging data, electroneuromyography parameters, and the severity of clinical symptoms in patients with degenerative lumbar spinal stenosis. Materials and Methods. A comprehensive clinical and instrumental study was conducted on 71 patients, aged 60 to 82 years, diagnosed with degenerative lumbar spinal stenosis. Pain was assessed using a visual analog scale, functional status using the Oswestry scale, and dural sac area using magnetic resonance imaging. The electroneuromyography study included an assessment of the H-reflex from the peroneal and tibial nerves. Statistical analysis was performed using the Spearman correlation coefficient. Results. A moderate negative correlation was found between the dural sac area and the H-reflex latency (r = -0.68, p < 0.05). The relationship between the degree of stenosis and pain intensity according to the Visual Analogue Scale was weak and insignificant (r = 0.32, p > 0.05). The highest correlation was observed between an increase in the H-reflex latency and a deterioration in the functional status according to the Oswestry index (r = -0.81, p < 0.01). Conclusion. Electrophysiological methods, particularly H-reflex testing, are a highly sensitive tool for objectively assessing the functional state of spinal roots and nerves in degenerative spinal stenosis. Electrophysiological measurements demonstrate a closer correlation with the patient's functional status than neuroimaging data, making them a valuable tool for monitoring and informing treatment decisions.
Background. A literature search of various databases revealed mixed and largely contradictory results regarding the etiology, pathogenesis, prevalence, and diagnostic criteria of cerebral amyloid angiopathies and iatrogenic amyloid angiopathies, which prompted the writing of this literature review. Aim of the review. To analyze current literature on the etiology, pathogenesis, prevalence, and diagnostic criteria of cerebral amyloid angiopathies and iatrogenic amyloid angiopathies. Research methods. A comprehensive literature search strategy was developed in PubMed/Medline and the Cochrane Central Trials Register. The search strategy included a randomized control option. Studies were searched from July 2010 to September 2025 without restrictions on the level of evidence or publication status. Both English-language articles and Russian publications were analyzed. Results. Iatrogenic amyloid angiopathy is a late complication following neurosurgical procedures, primarily involving cadaveric dura mater transplantation in children with traumatic brain injury. Cases of Iatrogenic amyloid angiopathy following cerebral vascular embolization using lyophilized dura mater have been described, as well as a late complication of red blood cell transfusions and growth hormone therapy. Iatrogenic amyloid angiopathy encompasses a wide range of clinical manifestations, from intracerebral hemorrhages with transient neurological impairment to seizure activity. Iatrogenic amyloid angiopathy diagnosis is based on the Boston criteria 2.0 and neuroimaging data. Conclusion. Despite a significant increase in awareness of Iatrogenic amyloid angiopathy, further study of this nosological entity remains highly relevant. More research is needed to update and expand our understanding of the etiology, pathogenesis, and clinical picture of the disease, and to modify diagnostic criteria for a more accurate clinical diagnosis.
Relevance. Covering the work of outstanding doctors and scientists plays a significant role in educating the younger generation and preserving Russian medical traditions. This publication explores the life and career of pediatric surgeon and professor at Irkutsk State Medical University, Vsevolod Andreevich Urusov. Results. It also highlights the wartime years of a very young V.A. Urusov, when he distinguished himself as a dedicated soldier, serving several years on the Eastern Front during the Great Patriotic War as a tank gunner. After the war, V.A. Urusov enrolled at the Irkutsk Medical Institute, and after graduating, he began his career at a district hospital, where he gained valuable practical experience and laid the foundation for his future professional growth. One of V.A. Urusov's most important achievements was the creation and development of a pediatric surgical service in Irkutsk. Under his leadership, specialized departments were established and 24-hour emergency surgical care was introduced, significantly improving the quality of medical care for children. Professor Urusov made a significant contribution to the development of medical personnel, mentoring several generations of talented physicians. He devoted great attention to the education of students and young specialists, sharing his knowledge and experience with them. Thanks to his efforts, pediatric surgery in Irkutsk has become one of the leading specialties in the region and beyond. Conclusion. Vsevolod Andreevich Urusov left an indelible mark on the history of medicine and education in Irkutsk. His life and professional work exemplify his dedication to his field and his commitment to continuous improvement. Thanks to his efforts, pediatric surgery in the region has reached a high level of development, providing patients with access to highly qualified and specialized medical care from his many talented students.
Background. The method of anterior decompression (discectomy) for monosegmental stenosis of the cervical spinal canal is subjectively assessed as highly effective by both neurosurgeons and the vast majority of patients. However, the objective criteria for the early effectiveness of this intervention have not been sufficiently studied to date. Aim of the study to evaluate the dynamics of electroencephalography parameters in the preoperative and early postoperative period in patients with monosegmental stenosis of the cervical spine. Materials and methods. Electroencephalography studies were conducted on 22 patients of the neurosurgery department, before and after surgical treatment under code A16.23.085.001. The spectral composition of the bioelectrical activity of the brain (alpha, beta, delta and theta rhythms), as well as the coherence of oscillations in selected leads, were studied. Results. In the preoperative period, a disorganized type of electroencephalogramm was recorded in the examined group according to the classification of E.A. Zhirmunskaya; there was a decrease in the index and amplitude of the alpha rhythm in the parietal-occipital leads; predominance of high-amplitude beta activity in the frontal-central leads; presence of diffuse delta activity of the average index and theta activity of the average index, localized in leads P3, P4, C3, C4. On the 5th day after the operation, an organized type of electroencephalography was recorded on the encephalogram; a well-modulated alpha rhythm was observed, with a frequency in the range from 9 to 10 Hz, and an amplitude of 70 to 80 microvolts. Low-amplitude beta rhythm activity was recorded in the frontocentral leads. Low-amplitude delta and theta rhythms were recorded in the parieto-occipital leads and had a low index. Overall, the obtained data indicated positive dynamics in the restoration of cortical rhythms. Conclusion. The positive dynamics of cerebral cortex biorhythms in the early postoperative period allows the use of the electroencephalography method to objectify the results of surgical treatment, and in the future for the purposes of neurorehabilitation.
Background. Connective tissue dysplasias are quite common among the population and are often accompanied by developmental disorders of the skeleton, visual organs, the dental system, neuromuscular and cardiovascular pathologies, etc. The prevalence of hereditary elastinopathies in some populations averages from 10 to 30 %. Clinical and molecular genetic diagnostics are key aspects in recognizing elastinopathies. Underestimating abnormalities in elastin fiber development leads to long-term complications and a reduced quality of life for patients. Aim: To analyze the molecular genetic and clinical manifestations of elastinopathies. Materials and methods. An analysis of literature and scientific citation databases was conducted (online Mendelian Inheritance in Man, Database of Genotypes and Phenotypes, GeneCards (an integrated database providing detailed genomic, proteomic, transcriptomic, and genetic information about human genes), and GenBank (an open database containing all annotated gene sequences). Results. It was shown that diseases associated with impaired elastin tissue development are caused by a number of genes, such as ELN, FBN1–FBN3, FBLN1–FBLN7, TGF-β, TGFBI, TBP1–LTBP4, MFAP1–MFAP4, LOX, LOX1, EMILIN1–EMILIN2, VCAN and HSPG2. Elastinopathies typically have a polymorphic clinical picture and are systemic in nature. Most hereditary diseases of elastin fibers manifest as skeletal dysplasias. Cardiovascular anomalies, eye and skin diseases. The clinical presentation of these diseases often has similar symptoms and requires differential diagnosis. Therefore, molecular genetic confirmation of the diagnosis is an important aspect in the diagnosis of elastinopathies. Conclusion. Disorders of elastin fiber development often remain undifferentiated. Clinical and molecular genetic diagnosis of elastinopathies is an important aspect of providing medical care to patients with this pathology. Systematization of the phenotypic manifestations and molecular genetic basis of elastinopathies is necessary for the successful prevention of the long-term consequences of these diseases.
Relevance. Hypertension is a leading global health burden and a major risk factor for cardiovascular disease and premature mortality. Prehypertension, particularly in young adults, often goes unrecognized but predicts future hypertension. Both modifiable factors – diet, physical activity, tobacco use, and stress – and non-modifiable factors – age, sex, and family history – affect blood pressure. Early detection is essential for prevention. Aim. To assess the prevalence of normotension, prehypertension, and hypertension, and their associated risk factors among adults in a tertiary medical institution in Jaipur, India. Materials and methods. A cross-sectional study was conducted over 6 months among 700 participants aged 18–60 years at Rajasthan University of Health Sciences College of Medical Sciences and Associated Hospitals, Jaipur. Blood pressure was measured according to Ministry of Health and Family Welfare guidelines. Socio-demographic, anthropometric, and lifestyle data were collected. Statistical analysis was performed using SPSS v16, with p < 0.05 considered significant. Results. Of 700 participants (56 % male; mean age 22.8 ± 6.7 years), 65,0 % were normotensive, 34,9 % prehypertensive, and 0,02 % hypertensive. Prehypertension was more common in males, urban residents, physically inactive individuals, and those with obesity, central obesity, high salt intake, tobacco or alcohol use, or moderate-to-severe stress. Family history of hypertension was more frequent in prehypertensive and hypertensive participants. Conclusion. Prehypertension is prevalent among young adults and is strongly associated with modifiable lifestyle factors and family history. Early identification and targeted lifestyle interventions are crucial to prevent progression to hypertension and reduce long-term cardiovascular risk.
Background. Thyroid gland pathology is the leading endocrine disease. According to modern requirements of a personalized approach to medicine, there is a need to study the expression of genes involved in immunoregulation and biosynthesis of thyroid hormones. Aim. To study the features of gene expression of iodothyrone deiodinases types 1, 2, and 3, iodotyrosine deiodinase, thyroid hormone receptor alpha and beta, and acetyltransferases types 1 and 2 in thyroid tissue samples from patients operated on for euthyroid and toxic goiter. Materials and methods. A study included patients living in the Irkutsk region who underwent thyroidectomy for benign thyroid diseases in 2021–2023: 12 patients with diffuse toxic goiter, 9 with multinodular toxic goiter, and 11 with multinodular euthyroid goiter. The expression of genes was studied using the polymerase chain reaction. Results. Active expression of the iodothyrone deiodinases types 3 and iodotyrosine deiodinase genes was detected in thyroid tissues for the first time. In multinodular toxic goiter, higher iodothyrone deiodinases types 3 expression was detected in patients with the development of postoperative laryngeal paresis (p=0.05). The thyroid gland sizes are consistent with the expression of receptors that determine iodothyronine metabolism: with thyroid hormone receptor beta expression in toxic thyroid gland, and with iodothyrone deiodinases types 1 in euthyroid thyroid gland (p <0.05). Thyroid hormone receptor alpha expression was absent less frequently in multinodular toxic goiter than in diffuse toxic goiter (p=0.005) and multinodular euthyroid goiter (p=0.0003), indicating a relationship between TRα expression and the development of nonimmune thyrotoxicosis. Acetyltransferases types 2 is expressed in all variants of the disease, while acetyltransferases types 1 expression is detected less frequently. Conclusion. The study demonstrates the features of gene expression of iodothyrone deiodinases types 1, 2, and 3, iodotyrosine deiodinase, thyroid hormone receptor alpha and beta, and acetyltransferases types 1 and 2 in thyroid tissue samples of patients operated on for euthyroid and toxic goiter. The relationships of individual genes with the features of the disease course and complications are shown.
