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Vestnik of North-Eastern Federal University. Medical Sciences

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No 3 (2024)
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CLINICAL MEDICINE

5-11 142
Abstract

Bloch-Sulzberger syndrome, or pigment incontinence, is a genetic disorder that belongs to the group of systemic melanoblastoses. According to literary sources, with the incidence of 1 case per 75 thousand children born, it is a rare disease. The process was first described by Garrod and Adamson in 1906 [2]. Bloch (1926) and Sulzberger (1928) identified this disease as an independent nosology (Bloch-Sulzberger melanoblastosis) [1]. Almost exclusively girls are affected, since the development of the pathology is associated with the X chromosome. The disease is based on a mutation of the NEMO gene in the Xq28 region, which encodes the transcription factor NF-κ-B. As a result of the mutation, the basal cells of the epidermis are unable to retain the melanin pigment, which accumulates in the melanophores of the dermis and intercellular spaces [1, 5]. Clinically, this is manifested by inflammation and rash of vesicular elements. The process develops at birth or in the first days, weeks of the child’s life. The disease occurs in several stages, which successively replace each other. In addition to skin lesions, patients with pigment incontinence have disorders of the nervous system (epilepsy, hydrocephalus, delayed psychomotor development, oligophrenia), optic nerve atrophy (blindness), strabismus, keratitis, various anomalies of the skeletal system, dystrophy of teeth, hair, nails [3, 4, 6]. This article presents a clinical case of Bloch-Sulzberger syndrome in a newborn girl. This disease was detected immediately after birth: the girl has visualized epithelial fragments, superficial erosions, small vesicles located in groups, dense with yellowish contents. These elements were located on the right forearm, right thigh, scalp in the occipital region, without pronounced hyperemia. In dynamics, against the background of the treatment, blisters and vesicles opened with the formation of erosions and crusts. The diagnosis of Bloch-Sulzberger syndrome in this case was made on the basis of clinical observation data, functional and laboratory studies, since it was not possible to conduct histological and molecular genetic studies. To confirm the diagnosis and determine further treatment tactics, we consulted with the Federal State Budgetary Institution N.N. Kulakov National Medical Research Center.

12-18 104
Abstract

Bronchopulmonary dysplasia (BPD) is a polyetiologic chronic disease of morphologically immature lungs that develops in newborns, mainly in profoundly premature infants, as a result of intensive care respiratory distress syndrome (RDS) and/or pneumonia.

In recent years, improvements in premature infant care technologies have resulted in the survival of extremely low birth weight and very low birth weight infants. It is in these infants that the “new” form of BPD is currently diagnosed, which has a milder course and is associated with the cessation of alveolar and vascular pulmonary development. Despite advances in premature infant care in recent years, the incidence of BPD remains high, ranging from 7 to 80 % among premature infants depending on gestational age. Bronchopulmonary dysplasia is currently the most common chronic obstructive pulmonary disease in young children.

In the first months and years of life, BPD is characterized by pronounced respiratory symptoms, significant violations of ventilation and gas exchange function of the lungs and pronounced radiological changes. With age, in most cases, there is a decrease and disappearance of clinical symptoms and radiological changes, improvement or normalization of respiratory function. Some patients with moderate to severe BPD develop chronic lung diseases (emphysema, obliterating bronchiolitis, local pneumosclerosis, bronchiectasis) as a result of structural changes in the respiratory tract and lungs, which persist into adulthood. Bronchial asthma develops early in children with BPD, bronchial hyperreactivity and atopy. Children with a history of BPD are predisposed to recurrent respiratory viral and bacterial infections, and their exercise tolerance is impaired.

A retrospective analysis of medical case of an inpatient who was in the Department of Anesthesiology, Reanimation and Intensive Care of Newborns (OARITN), in the Department of Pathology of Newborns and Premature Infants No. 1 of the Perinatal Center and in the Pulmonology Department of the Pediatric Center of the State Autonomous Institution of the Republic of Sakha (Yakutia) “Republic Hospital № 1 – M. E. Nikolaev National Center of Medicine” was performed. The presented clinical case of a new form of bronchopulmonary dysplasia allows us to draw the attention of doctors to the course and outcome of this pathology.

19-24 57
Abstract

Despite the extensive study of periodontal diseases, their prevalence rates do not tend to decrease. At the same time, the literature resources do not sufficiently cover the issues of studying the periodontologic status of elderly and senile patients living in neuropsychiatric houses. Patients with chronic mental illnesses need various types of dental care, including periodontal care and it is relevant for each patient with age. The paper presents the frequency and structure of inflammatory periodontal diseases in elderly and senile patients living in neuropsychiatric houses. To analyze the frequency and structure of periodontal diseases and determine their need for periodontal care, the CPI index was used (1995). At the same time, the degrees of periodontal treatment need by age, types of mental illness in the examined populations of men and women in general were revealed. Thus, patients with schizophrenia, and less often dementia and mental retardation, predominated in neuropsychiatric houses in the structure of mental diseases among examined people. With age, the data on the intensity of periodontal tissue damage in elderly and senile patients is characterized by a significant increase in the “Unaccounted sextants” component, which is associated with the severity of periodontal disease and tooth loss. At the same time, the components of bleeding, supra- and subgingival stone, periodontal pocket make up the minimum value. The results of the study determine the high level of prevalence, intensity of inflammatory periodontal diseases and the need for periodontal care in the examined elderly and senile patients living in neuropsychiatric houses, who, for health reasons, show an extremely low level of compliance with periodontal treatment, which dictates the need to organize outbound dental care under the program of state guarantees within the framework of compulsory health insurance.

25-29 84
Abstract

Epilepsy is one of the most common neurological diseases that occurs at different stages of life in men and women. WHO, the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE) conducted a global campaign to highlight the problem of epilepsy to disseminate better information and raise awareness of this disease. The authors compiled a questionnaire of 12 questions to analyze public awareness of epilepsy. The survey was conducted among various groups of the population, students, and those working outside the medical field. It was found that more than half of the respondents (86.54 %) know about the existence of such a diagnosis, but 1.92 % of respondents have never heard of this disease. 25 % of all respondents have a patient with epilepsy in their environment. For 23.1 % of respondents, patients with epilepsy cause a feeling of anxiety and fear, and 34.6 % of people who completed the survey may experience anxiety and fear when they see an epileptic seizure. A quarter of respondents would be able to provide proper first aid during an epileptic seizure, and only a third of respondents (32.7 %) know that antiepileptic drugs are used in treatment. 25 % of respondents believe that epilepsy is not curable, 36.5 % do not know about the treatment of this disease. For centuries, an incorrect idea of epilepsy has been formed. Various myths have circulated, ranging from the fact that this disease was called a disease of geniuses, to the fact that epileptics were labeled as potential criminals. Despite the fact that we live in the 21st century, some prejudices about epilepsy remain to this day, which indicates insufficient public awareness of the disease and the need to popularize knowledge about this disease through the media and social networks.

30-39 96
Abstract

left ventricular non-compaction cardiomyopathy (LVNC) is a rare, but potentially serious, condition that can lead to sudden cardiac death, heart failure, and thromboembolic complications. In recent years, there has been an increase in awareness among medical professionals about this condition. Despite recent advances in diagnostic techniques, there are still several unresolved issues related to LVNC, such as the variability in its clinical presentation, ranging from an asymptomatic course to severe heart failure and life-threatening arrhythmias. Additionally, there is a lack of widespread availability of certain imaging techniques, such as MRI, for diagnosis. Furthermore, there is limited information available on advanced molecular genetic testing for familial forms of LVNC, which is essential for accurate prognosis in patients with the condition.

The presentation of a clinical case of LVNC in a 25-year-old patient demonstrates the peculiar features of the impact of this pathology on myocardial function, leading to a combined phenotype of the disease. This includes episodes and equivalents of Morgagni-Adams-Stokes syndrome (MAS), arrhythmia syndrome, angina pectoris and chronic heart failure with reduced ejection fraction (CHF with REF). The aim of this study is to increase awareness among healthcare professionals providing primary care for the adult population about this rare hereditary condition and to optimize approaches to its diagnosis and treatment.

40-48 63
Abstract

Viral hepatitis D is one of the most severe forms of viral hepatitis with the risk of developing liver cirrhosis and hepatocellular carcinoma and is difficult to treat. Genotype 1 of the D virus is widespread, with other genotypes distributed unevenly across continents. In Russia, the Republics of Tyva and Yakutia are endemic regions for hepatitis D. According to our research, genotypes 1 and 2 of the D virus are found in Yakutia. The aim of the study was to determine the replicative activity of the virus and their genotypic and subgenotypic diversity. Methods and materials: sequencing was performed using the Sanger method on a 500 bp section of the 3’-end of the LHDAg gene. 499 people were tested for hepatitis D viruses using the PCR method. Results: the incidence of viral hepatitis B is decreasing. In 2023, the rate of acute viral hepatitis was 0.40 per 100 thousand population (RF – 0.34), chronic viral hepatitis B – 17.3 per 100 thousand population (RF – 8.5). When determining the viral load, 64 % of patients had simultaneous replication of both viruses (HBV + HDV +), only 36 % had replication of the D virus. Genotyping of the hepatitis D virus revealed genotype 1 in 46.5 % of patients, genotype 2 – in 53.5 %. A phylogenetic analysis showed that among isolates belonging to genotype 1, 2 isolates of 2019 and 3 isolates from the GenBank database are grouped with isolates belonging to cluster 1c, and 3 isolates of 2019 and the Yakut-8 isolate from the GenBank database formed a separate branch located between clusters 1c and 1e. All isolates of genotype 2 belonged to subgenotype 2b. Conclusion: It is shown that hepatitis Delta virus of genotypes 1 and 2 are widespread in Yakutia, and subgenotype 1c and subgenotype 2b were identified for the first time.

49-57 48
Abstract

The standard treatment for Parkinson’s disease (PD) still includes the use of levodopa and other dopaminergic agents, which are aimed primarily at reducing motor deficits. At the same time, it has been established that dopaminergic therapy also affects other non-motor symptoms of the disease, in particular cognitive and affective disorders. However, there are a limited number of studies devoted to this problem in the domestic literature.

The aim of the study is to assess the dynamics of cognitive impairment, anxiety and depression in patients with PD during dopaminergic therapy.

Material and methods. The study covered 96 people with PD (45.8 % of men, 54.2 % of women), the median age was 68.0 [61.0; 74.0] years, the median duration of the disease was 5.0 [3.0; 8.0] years. Motor and cognitive impairments, anxiety, and depression were assessed during the period of the worst condition before taking antiparkinsonian drugs (OFF period) and during the period of the best condition after taking the drugs (ON period).

Results. In patients with clinically pronounced anxiety (HADS-A ≥ 11), dopaminergic therapy reduced its severity from 13.0 [11.0; 15.0] points to 10.0 [8.0; 12.5] points (p < 0.001), and in patients with clinically pronounced depression (HADS-D ≥ 11), the therapy reduced it from 13.0 [12.0; 14.0] points to 10.0 [8.75; 13.0] points (p < 0.001). The mean score on the MoCA scale increased during therapy from 19.64±4.99 to 23.45±4.97 (p < 0.001), and the mean time spent on the study decreased from 603.58±166.11 sec to 507.86±141.25 sec (p < 0.001). In particular, dopaminergic therapy led to an improvement in such sections of the MoCA scale as delayed recall, abstraction and visual-spatial functions. The severity of the dynamics of cognitive and affective disorders during dopaminergic therapy did not depend on the equivalent daily dose of levodopa, as well as on the severity of the reduction in motor deficit and the stage of the disease according to the modified Hoehn-Yahr scale.

Conclusion. In patients with PD, dopaminergic therapy may improve cognitive functions, especially delayed recall, abstraction, and visual-spatial functions; and reduce anxiety and depression, if it is present.

58-65 64
Abstract

According to various studies, to date the frequency of various adverse reactions can reach 50 %.

Psychiatric and behavioral reactions, in particular aggression, are the most common, occurring in up to 20-30 % of patients using antiepileptic drugs. We offer clinical observation of a patient with structural epilepsy, who developed behavioral adverse reactions (aggression, irritability, impulsivity) during the initial administration of Levetiracetam, and therefore neuropsychological and pharmacogenetic testing was carried out. According to a pharmacogenetic study, carriage of single-nucleotide variants of genes was identified that predispose to changes in the metabolism of dopamine and serotonin, which increases the risk of aggressive behavior, including auto- and external aggression, also while taking a starting dose of Levetiracetam. Taking into account the clinical picture and specialized additional examination, the therapy was adjusted, including the abolition of Levetiracetam, which made it possible to stop unwanted reactions. This clinical case demonstrates the importance of personalized pharmacogenetic research in patients with epilepsy, which ensures more effective and safe therapy. This can significantly improve the quality of life of patients.

66-82 113
Abstract

This paper presents an overview of Russian and foreign literature sources on improving periodontal care for disorders of the balance of the oral microflora associated with various comorbid conditions. The clinical and epidemiological characteristics of chronic inflammatory periodontal diseases in various age groups of the population are described in detail, which is defined as unfavorable and remains an urgent problem not only in dentistry, but also in medicine in general, since chronic foci of oral cavity infection cause, in addition to tooth loss and impaired function of the dental system, the development of focal diseases of parenchymal organs. At the same time, the review outlines the etiological factors of the development of chronic periodontitis, where the leading importance is given to the periodontopathogenic microflora, where the severity of dysbiosis largely depends on the presence of various general somatic diseases leading to dysbiosis. In addition, there is information on the pathogenetic mechanisms of the formation and development of inflammatory and destructive processes of periodontal tissues, including rapidly progressive periodontitis. Chronic periodontitis has a multifactorial origin and a complex pathogenetic mechanism of development, which cause certain difficulties in carrying out therapeutic, preventive and rehabilitative measures. In this regard, the provision of qualified dental care with an interdisciplinary approach is theoretically and scientifically justified, which will ensure the effectiveness of the measures taken, contributing to improving the quality of life of patients. According to a number of researchers, during the comprehensive medical and social rehabilitation of patients with chronic periodontitis, a positive clinical effect of restoring the microbiota of the periodontal pocket and oral cavity is noted. Taking into account the above, the names of prebiotics, probiotics and eubiotics are presented in detail, indicating their dosage and course of treatment for chronic periodontitis combined with oral dysbiosis. This situation confirms the practical importance of conducting etiopathogenetic therapy of inflammatory periodontal diseases, taking into account the imbalance of the microflora of the periodontal pocket. Meanwhile, when drawing up an individual plan of therapeutic and preventive measures for chronic periodontitis, there is a need for additional diagnostic research methods related to determining the severity of dysbiosis, which form a personalized approach to therapy and prevention.

HEALTH SCIENCES

83-90 47
Abstract

The success of students’ adaptation to the educational process at a university is largely determined by the characteristics of the lateral specialization of the cerebral hemispheres. At the same time, variability in the functional interaction of the hemispheres is possible to ensure an optimal level of adaptation in changing conditions. The dynamics of functional brain asymmetry (FBA) was studied in junior medical students in different years (2015–2022). The examined 194 Yakut students of 1st–2nd years of the Institute of Medicine, NEFU, 18– 23 years old, were divided into 4 groups by year and subgroups: those writing with their left hand and those writing with their right hand. The profile of the lateral phenotype of the brain and the degree of asymmetry were determined using asymmetry coefficients (Ka). To estimate Ka, the mean and quartile values  were found. When comparing interannual Ka values, the nonparametric Wilcoxon rank method was used. Over 7 years, an increase in right-handedness and right-footedness in students was revealed, with right-handedness by 25 %, and right-footedness by 12.3 %. Along with the increase in right-handedness and right-footedness, the average Ka increased, and its quartile values  shifted significantly to the right. By 2022, the proportion of right-eyed people among right-handed people decreased by 20 % and the average Ka decreased to -0.05. There was a shift in the first quartile of Ka to -1, which corresponds to the symmetry of the eyes. In left-handed people, over 7 years lefthandedness decreased by 22.6 %, and left-footedness – by 42.2 %. The average Ka of the arms and legs decreased, the symmetry of the leg was established and the third quartile significantly deviated in the positive direction. The incidence of the dominant left eye decreased by 2022 by 38.1 % compared to 2015. The decrease in the incidence of left-eyedness is accompanied by a decrease in both the average and median values  of Ka, which indicates the symmetry of the function of this organ in left-handed people at the end of the seven-year period.

Conclusions: Longitudinal studies of functional brain asymmetry in junior medical students indicate a trend towards dominance of the left hemisphere, which should help increase the level of development of cognitive functions and improve the adaptive capabilities of students in educational activities.



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