Acta Biomedica Scientifica最新文献

筛选
英文 中文
Contemporary algorithms for diagnosing obstructive coronary artery disease in real clinical practice 在实际临床实践中诊断阻塞性冠状动脉疾病的当代算法
Acta Biomedica Scientifica Pub Date : 2024-07-23 DOI: 10.29413/abs.2024-9.3.11
A. Sumin, A. V. Starovoytova, A. V. Shcheglova, E. V. Gorbunova
{"title":"Contemporary algorithms for diagnosing obstructive coronary artery disease in real clinical practice","authors":"A. Sumin, A. V. Starovoytova, A. V. Shcheglova, E. V. Gorbunova","doi":"10.29413/abs.2024-9.3.11","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.11","url":null,"abstract":"Background. Despite the high evidence level of the currently existing international recommendations on stable coronary heart disease (CHD) and chronic coronary syndrome, their implementation in domestic clinical practice is insufficient.The aim of the work. To analyze the choice of diagnostic tactics (non-invasive and invasive) in patients with suspected obstructive coronary heart disease in real clinical practice.Methods. The study included outpatients with suspected obstructive CHD, in whom the pre-test probability (PTP) of obstructive CHD was determined; if PTP = 5–15 %, clinical probability was assessed based on CHD risk factors. Based on the results of coronary angiography, the following groups were identified: group I – obstructive lesion of the coronary arteries (≥ 70 %) (n = 50); group II – non-obstructive lesion of the coronary arteries (< 70 %) (n = 32); group III – intact coronary arteries (n = 40). Results. According to the results of coronary angiography, the frequency of detection of obstructive lesion of the coronary arteries was 42 % (in patients without past medical history of myocardial infarction – 31 %). Before performing coronary angiography, non-invasive tests were performed in 2.5 % of cases. Pain in the chest was represented by typical angina in 74 % of patients, with no difference in frequency in all groups. PTP values were statistically significantly higher in the group with obstructive CHD (median – 32 %), however, in the other two groups, PTP values corresponded to a high risk of obstructive CHD (median – 27 % and 21 %, respectively). PTP was an independent predictor for obstructive CHD and subsequent myocardial revascularization.Conclusion. In the cohort of outpatients with suspected coronary heart disease we examined during invasive coronary angiography, the frequency of obstructive lesion of the coronary arteries remains low. Non-invasive tests were performed in isolated cases, while PTP was an independent predictor for obstructive CHD and subsequent myocardial revascularization. To increase the frequency of detection of obstructive coronary heart disease, we should adhere to the diagnostic algorithms of the European Society of Cardiology and make wider use of non-invasive imaging tests.","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"137 29","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141810905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Causes of intraventricular hemorrhages in extremely premature newborns and features of their early outcomes 极早产新生儿脑室内出血的原因及其早期结局的特点
Acta Biomedica Scientifica Pub Date : 2024-07-23 DOI: 10.29413/abs.2024-9.3.18
V. Kocherova, N. G. Popova, V. A. Shcherbak
{"title":"Causes of intraventricular hemorrhages in extremely premature newborns and features of their early outcomes","authors":"V. Kocherova, N. G. Popova, V. A. Shcherbak","doi":"10.29413/abs.2024-9.3.18","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.18","url":null,"abstract":"The aim. To study the predisposing factors for the development and timing of development of intraventricular hemorrhage (IVH) in extremely premature newborns.Materials and methods. We carried out retrospective analysis of 32 case histories of children born at a gestational age of less than 32 weeks. The children were divided into three groups: group 1 (n = 13) – children death was caused by non-traumatic IVH; group 2 (n = 12) – surviving infants with IVH; group 3 (comparison group; n = 7) – premature infants without IVH. We assessed risk factors for the development of IVH, their severity, and main indicators predisposing to death in newborns of these groups.Results. Children of the group 1 had statistically significantly low values of body weight – 670 [640–860] g (р1–2 = 0.007; р1–3 = 0.012), head circumference – 23 [22–24] cm (р1–2 = 0.008; р1–3 = 0.049), gestational age – 24.5 [23.5–25.5] weeks (р1–2 = 0.002; р1–3 = 0.007). Gender differences were revealed: in the group 1, there were 92.3 % of boys, in the group 2 – 33.3 % (p1–2 = 0.008). Maternal smoking increased the risk of fatal IVH by 3.5 ± 0.15 times, polyhydramnios – by 3.3 ± 0.37 times, chorioamnionitis – by 12.8 ± 0.47 times, placenta previa – by 3.2 ± 0.15 times. In newborns of the group 1, seizures developed on the day 1 of life in 84.6 % (more often than in group 2; p = 0.00001), and shock in the first 3 hours of life was recorded in 46.1 % of cases (р1–2 = 0.034), which increased the risk of death by 4.3 ± 0.47 times. In newborns of group 1, compared with newborns of groups 2 and 3, pulmonary hypertension was more often detected (60.8 [50.1–69.2] mm Hg; p1–2 = 0.028; p1–3 = 0.047).Conclusion. Confirmed infectious diseases in the mother, clinical manifestation of convulsions, pulmonary hypertension, development of multiple organ failure and shock in extremely premature newborns increase the risk of intraventricular hemorrhage and the frequency of deaths.","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"77 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141812576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metabolic changes in the eye lens in the progression of cataract 白内障发展过程中眼球晶状体的代谢变化
Acta Biomedica Scientifica Pub Date : 2024-07-23 DOI: 10.29413/abs.2024-9.3.17
A. Chuprov, S. Notova, O. Marshinskaia, T. Kazakova
{"title":"Metabolic changes in the eye lens in the progression of cataract","authors":"A. Chuprov, S. Notova, O. Marshinskaia, T. Kazakova","doi":"10.29413/abs.2024-9.3.17","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.17","url":null,"abstract":"Background. Cataract is one of the main causes of decreased visual acuity in the world, and therefore scientists are continuing researches on the mechanisms of development of this ophthalmic pathology.The aim. To study metabolic changes in a cloudy lens using an experimental model.Materials and methods. The study was carried out on adult male Wistar rats (n = 60), which were divided into control (n = 30) and experimental (n = 30) groups. Experimental cataract were simulated by daily ultraviolet irradiation (λ = 300–350 nm) during 6 months for 20 minutes. At the months 2, 4 and 6 of the study, we carried out a biomicroscopic examination of the anterior eye of animals using a slit lamp to monitor the development of cataract. Lenses were collected to determine the content of stearoyl-coenzyme-A desaturases and melatonin using enzyme immunoassay.Results. At the stage of initial cataract, the content of the stearoyl-coenzyme A desaturase was statistically significantly lower than the control values by 38 %; at the stage of immature cataract – by 30 %; at the stage of mature cataract – by 15.4 %. It was revealed that at the month 6 of the study, the concentration of melatonin in lens homogenates was 17 % lower when compared with the control. A statistically significant correlation was established between stearoyl-coenzyme A desaturase and melatonin (r = 0.32).Conclusion. Melatonin and stearoyl-coenzyme A desaturase play an important role in a number of biochemical processes that ensure the proper functioning of the visual analyzer. Changes in the concentration of these biological molecules can play a key role in the pathogenesis of cataract and a number of other ophthalmic diseases","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"121 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141811855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quality assessment of the screening test for predictors of coronary heart disease 冠心病预测筛选测试的质量评估
Acta Biomedica Scientifica Pub Date : 2024-07-23 DOI: 10.29413/abs.2024-9.3.19
A. Y. Lazutkina
{"title":"Quality assessment of the screening test for predictors of coronary heart disease","authors":"A. Y. Lazutkina","doi":"10.29413/abs.2024-9.3.19","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.19","url":null,"abstract":"Background. Coronary heart disease (CHD) ranks first among the causes of death, morbidity, and disablement. The development of innovative methods for predicting CHD will reduce these losses.The aim of the work. To assess the quality of the screening test for predictors of coronary heart disease using statistical quality control of a verifiable diagnostic test (with binary outcomes).Materials and methods. In 2008–2013, 70 cases of CHD were registered in a groupof 7959 initially healthy men 18–66 years old who were the members of locomotive crews. Statistical analysis identified CHD predictors: arterial hypertension; psychosocial stress; hyperglycemia; dyslipidemia; excessive alcohol consumption; obesity of degree I–III; age 34–66 years; microalbuminuria; thickening of the intima- media complex/atherosclerotic plaque (IMC/ASP); pulse wave velocity (PWV) > 12 m/s; left ventricular hypertrophy; grade I–II retinopathy; atherosclerosis of aorta. DiagStat (Russian Federation) software determined their predictive ability when used in screening tests to predict CHD. We demonstrated the use of this method to assess the predictive ability of risk factors for any disease.Results. CHD predictors have high to moderate specificity for the absence of CHD in individuals who test negative for the above-listed factors. IMC/ASP, microalbuminuria, PWV > 12 m/s, grade III obesity moderately increase the posterior odds of developing CHD versus its absence in comparison with the prior odds after receiving a positive result of the verifiable diagnostic test for these factors. Age 34–66 years moderately increases the posterior odds in favor of the absence of CHD versus its occurrence compared with the prior odds after receiving a negative result of the verifiable diagnostic test.Conclusion. When assessing the result of the verifiable diagnostic test, we should focus on both the probability of occurrence and the absence of CHD in the presence or absence of a predictor in the patient. Since the determination of PWV > 12 m/s, atherosclerosis of aorta, microalbuminuria, stress, and excessive alcohol consumption among workers of locomotive crews is not mandatory, it is necessary to conduct a targeted search for them","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"62 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141813191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Agerelated parameters of P300 auditory evoked potentials in elderly persons in the context of cognitive health: A study in the European North of Russia 认知健康状况下老年人 P300 听觉诱发电位的年龄相关参数:俄罗斯欧洲北部地区研究
Acta Biomedica Scientifica Pub Date : 2024-07-23 DOI: 10.29413/abs.2024-9.3.13
L. V. Poskotinova, E. Krivonogova, O. Krivonogova, A. Kudryavtsev
{"title":"Agerelated parameters of P300 auditory evoked potentials in elderly persons in the context of cognitive health: A study in the European North of Russia","authors":"L. V. Poskotinova, E. Krivonogova, O. Krivonogova, A. Kudryavtsev","doi":"10.29413/abs.2024-9.3.13","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.13","url":null,"abstract":"Background. Setting of norms for the parameters of P300 cognitive auditory evoked potentials (EP) in elderly people with intact cognitive functions considering their residence in certain climatic and geographical regions is an urgent problem.The aim of the study. To determine age-related parameters of P300 cognitive auditory evoked potentials in elderly people aged 60–69 and 70–74 years, living in the European North of Russia (using the example of Arkhangelsk).Methods. The parameters of P300 auditory EP were determined in randomly selected urban residents in the age groups of 60–69 years (n = 284) and 70–74 years (n = 115) with normal scores on the Montreal Cognitive Assessment Scale (MoCA), without depression (according to Beck Depression Inventory), with preserved ability to work and/or social functions. We calculated the 5th–95th percentile values (P5– P95) of the P300 EP parameters and assessed the relationships of these parameters with socio-demographic characteristics, lifestyle and the results on the MoCA scale and Beck Depression Inventory.Results. Statistically significant differences in latency indicators of P300 EP were determined between groups of 60–69 and 70–74 years (P25–P90) in all studied brain regions (frontal, central). In the group of 60–69 years, the range of P25–P75 values of P300 EP latencies was 342.5–401 ms, in the group of 70–74 years – 358.5–443 ms. Age differences in P300 EP amplitudes were minimal with an interquartile range of 4–13 μV in the total sample. Participants who smoked had higher latency scores and lower amplitude scores; former smokers had higher latency scores compared to never-smokers.Conclusion. Latency above 400 ms at the age of 60–65 years and above 443 ms at 70–74 years can be considered as a criterion for reduced cognitive reserve and an increased risk of developing cognitive disorders in elderly people living in the European North of Russia.","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"37 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141813336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Drug-resistant epilepsy: Current concepts, pathogenesis, risk factors, outcomes of surgical treatment 耐药性癫痫:当前概念、发病机制、风险因素、手术治疗结果
Acta Biomedica Scientifica Pub Date : 2024-07-23 DOI: 10.29413/abs.2024-9.3.15
L. M. Tibekina, O. A. Al-Sahli, V. V. Flud
{"title":"Drug-resistant epilepsy: Current concepts, pathogenesis, risk factors, outcomes of surgical treatment","authors":"L. M. Tibekina, O. A. Al-Sahli, V. V. Flud","doi":"10.29413/abs.2024-9.3.15","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.15","url":null,"abstract":"Despite the wide choice of antiepileptic drugs (AEDs), a third of patients remain resistant to the effects of modern AEDs. Drug-resistant epilepsy (DRE) is characterized by the inability to control seizures in a patient when using at least two adequate AED regimens at an effective daily dose as monotherapy or in combination. In this case, the mechanisms responsible for drug resistance are mainly either increased excretion of AEDs by transporters from epileptogenic tissue (the multidrug transporter hypothesis) or a decrease in the sensitivity of drug receptors in epileptogenic brain tissue. It is assumed that there are other mechanisms, but they remain understudied. A number of factors are associated with the risk of DRE developing in patients with diagnosed epilepsy, including genetic, iatrogenic, brain malformations, and others. Patients with DRE have a higher probability of developing psychopathological disorders (depression, anxiety, psychosis), the proportion of which is significantly higher than in the general population. They have a 10-fold increased risk of death due to injury, cognitive decline, and sudden unexpected death in epilepsy (SUDEP). The priority treatment method for DRE is surgery. Early identification of DRE is critical for identifying potential treatment alternatives and determining whether a patient is a surgical candidate. Analysis of data from clinical and instrumental research of operated patients with DRE in the early and late postoperative period will allow us to identify factors of unfavorable outcome and to increase the effectiveness of treatment for this category of patients.The aim was to study and to summarize literature data on the pathogenesis and risk factors of drug resistance to antiepileptic drugs in patients with epilepsy, justifying the need for timely identification of drug resistance and referral of patients with drugresistant epilepsy to specialized centers for possible surgical treatment.","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"80 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141810169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Choosing the optimal method for surgical treatment of rhegmatogenous retinal detachment 选择流变性视网膜脱离手术治疗的最佳方法
Acta Biomedica Scientifica Pub Date : 2024-07-23 DOI: 10.29413/abs.2024-9.3.16
V. A. Zaika, T. Iureva, D. B. Danzandorzhieva
{"title":"Choosing the optimal method for surgical treatment of rhegmatogenous retinal detachment","authors":"V. A. Zaika, T. Iureva, D. B. Danzandorzhieva","doi":"10.29413/abs.2024-9.3.16","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.16","url":null,"abstract":"The problem of the structural and functional effectiveness of episcleral and endovitreal treatment methods of rhegmatogenous retinal detachment remains open to this day.The aim of the study. To assess the clinical effectiveness of surgical treatment of rhegmatogenous retinal detachment using episcleral and endovitreal methods.Material and methods. An analysis of the electronic database and a detailed assessment of the treatment of 285 patients with rhegmatogenous retinal detachment for 2005–2022 were carried out. A comparative analysis was made in two groups: group 1 – patients after episcleral surgery (n = 155); group 2 – patients after endovitreal surgery (n = 130). The initial condition and the extent of surgery were comparable. Results. From 2005 to 2009 in 65.9 % of cases, episcleral buckling predominated; from 2009 to 2021 – posterior closed vitrectomy (in 64.8–88.7 % of cases). The incidence of primary retinal reattachment was 74.2 % and 71.5 %. The number of relapses after vitreoretinal surgery slightly exceeded the values in the group 1 – 28.4 % versus 25.7 %, and in 20% of cases the first relapse occurred before silicone aspiration as a result of subsilicone proliferation. The total number of surgical interventions per person, taking into account mandatory silicone aspiration, in the group 1 was 1.3, in the group 2 – 2.25 for the entire observation period. The visual acuity of patients in group 1 was 2 times higher than that of the comparison group – 0.21 ± 0.02 and 0.1 ± 0.03, respectively (p < 0.05).Conclusion. Episcleral treatment methods of rhegmatogenous retinal detachment are characterized by better anatomical, reconstructive and functional effects with fewer re-operations","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"71 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141812963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effect of exercise and nutritional support on elderly and senile patients with sarcopenic obesity 运动和营养支持对老年肌肉疏松性肥胖症患者的影响
Acta Biomedica Scientifica Pub Date : 2024-07-22 DOI: 10.29413/abs.2024-9.3.2
I. E. Pleshchev, V. Nikolenko, E. Achkasov, Y.I. Preobrazhenskiy, L. A. Gridin, A. N. Shkrebko, M. V. Tsoller
{"title":"The effect of exercise and nutritional support on elderly and senile patients with sarcopenic obesity","authors":"I. E. Pleshchev, V. Nikolenko, E. Achkasov, Y.I. Preobrazhenskiy, L. A. Gridin, A. N. Shkrebko, M. V. Tsoller","doi":"10.29413/abs.2024-9.3.2","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.2","url":null,"abstract":"The aim of the review. To analyze the prevalence of sarcopenic obesity among elderly and senile people, to assess its causes, and to present modern methods for its prevention and physical rehabilitation.This review article discusses the most recent evidence on age-related changes in fat and muscle tissue, and on calorie restriction and exercise that have positive effect on physical performance in older people with sarcopenic obesity. In addition, potential gaps in clinical practice guidelines that merit attention in future research are identified and analyzed.Search strategy. We used the following key words to define participation in the review:“sarcopenic obesity”, “sarcopenia with obesity”, “sarcopenia”, “elderly/old age”. Inclusion and exclusion criteria. The review included original research results (reviews, meta-analyses). Editorials, proceeding of the conferences, and research protocols were excluded. The study sample included women and men of any race aged ≥ 60 years with a diagnosis of sarcopenic obesity and with preserved locomotion function. Articles involving hospital patients were also excluded. Non-human studies and studies that did not report precise intervention criteria (e. g., nutrition, exercise, duration, etc.) were excluded.The literature search was conducted in four electronic databases: PubMed, Cochrane Library, Springer, Scopus, for the period from 2013 to August 1, 2023. There were no restrictions on the language of the publication.","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"9 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141814614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic prion disease – fatal familial insomnia (clinical case) 遗传性朊病毒病--致命的家族性失眠症(临床病例)
Acta Biomedica Scientifica Pub Date : 2024-07-22 DOI: 10.29413/abs.2024-9.3.8
T. Sorokovikova, A. Morozov, A. Kryukova, S. Naumova, A. V. Mitropolskaya
{"title":"Genetic prion disease – fatal familial insomnia (clinical case)","authors":"T. Sorokovikova, A. Morozov, A. Kryukova, S. Naumova, A. V. Mitropolskaya","doi":"10.29413/abs.2024-9.3.8","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.8","url":null,"abstract":"Background. Fatal familial insomnia is a rare genetically determined neurodegenerative disorder from the group of prion diseases. Its main cause is the autosomal dominant D178N mutation of the PRNP gene, which leads to the synthesis of the pathological prion protein PrP.The aim. Using the example of a clinical case to describe an example of the early onset of fatal familial insomnia in a teenager, a clinical example of its management.Materials and methods. Female patient V., 16 years old, of hyposthenic constitution, undernourished, with negative family history (multiple sclerosis in her paternal grandmother) for the first time consulted a neurologist in Tver for the complaints of superficial sleep, shortened to 4–5 hours, unspecific pain all over the body, periodic numbness in the upper limbs. Six months later, retardation of speech and movements, changes in gait, and intentional tremor occurred; sleep was shortened to 2 hours. In the future, the teenager lost the ability to independently maintain the vertical body position, the ability to walk without assistance, speech was reduced to syllable answers to questions. In order to verify the diagnosis and to carry out differential diagnosis with other neurodegenerative diseases, the girl underwent auxiliary research methods: detection of antibodies to nuclear antigens, magnetic resonance imaging, computer electroencephalography, polyexomal genome sequencing.Results. Based on the anamnesis, complaints, clinical picture and results of genetic research the final diagnosis of fatal familial insomnia was made. Due to the lack of etiological and pathogenetic therapy, the patient was subsequently provided with palliative medical care. The fatal outcome occurred 19 months after the onset of the disease.Conclusions. The presented clinical case reflects the complexity of managing patients with rare genetic diseases, confirms the need for mandatory polyexomal genome sequencing in order to verify the diagnosis, which allows timely palliative care","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"21 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141817220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lipid peroxidation – antioxidant defense system in children with seasonal influenza 季节性流感儿童的脂质过氧化--抗氧化防御系统
Acta Biomedica Scientifica Pub Date : 2024-07-22 DOI: 10.29413/abs.2024-9.3.9
E. D. Kazantseva, M. Darenskaya, L. V. Rychkova, A. Petrova, N. V. Semеnova, N. Kurashova, L. Grebenkina, L. I. Kolesnikova
{"title":"Lipid peroxidation – antioxidant defense system in children with seasonal influenza","authors":"E. D. Kazantseva, M. Darenskaya, L. V. Rychkova, A. Petrova, N. V. Semеnova, N. Kurashova, L. Grebenkina, L. I. Kolesnikova","doi":"10.29413/abs.2024-9.3.9","DOIUrl":"https://doi.org/10.29413/abs.2024-9.3.9","url":null,"abstract":"Introduction. Influenza remains a serious viral infection in children and has consequences for the organism.The aim of the study. To analyze the lipid peroxidation products and antioxidant defense (AOD) components level in children of two age groups with seasonal influenza.Materials and methods. We examined 141 children aged from 1 month to 6 years with a diagnosis of influenza (subgroup 1 – 1 month – 2.11 years (n = 78); subgroup 2 – 3–6 years (n = 63)), 47 children of control group (subgroup 3 – 1 month – 2.11 years (n = 17); subgroup 4 – 3–6 years (n = 30)). Spectrophotometric, fluorometric and statistical methods were used.Results. In subgroup 1 of children with influenza, there were higher levels of compounds with double bonds (p = 0.001), conjugated dienes (CDs) (p < 0.0001), ketodienes and conjugated trienes (KD and CT) (p = 0.004); in subgroup 2 of children with influenza – increased values of CDs (p < 0.0001), KD and CT (p < 0.0001) and thiobarbituric acid reactants (p < 0.0001) compared to the control. The AOD system in subgroup 1 was characterized by a decrease in the level of α-tocopherol (p < 0.0001), retinol (p < 0.0001) and higher oxidized glutathione (GSSG) values (p = 0.002) compared to the control. Children of subgroup 2 had lower values of the level of α-tocopherol (p < 0.001), retinol (p = 0.012) and total antioxidant activity (p < 0.0001) and higher values of GSSG (p = 0.035) compared to the control.Conclusion. In children with influenza, regardless of age, there is a higher level of production of lipid peroxidation indicators, a lack of fat-soluble vitamins and higher values of oxidized glutathione than in healthy children","PeriodicalId":505136,"journal":{"name":"Acta Biomedica Scientifica","volume":"14 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141816984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信