Medical Herald of the South of Russia最新文献

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Neuroplasticity as the basis of motor rehabilitation 神经可塑性是运动康复的基础
Medical Herald of the South of Russia Pub Date : 2023-11-09 DOI: 10.21886/2219-8075-2023-14-4-122-128
A. E. Amamchyan, G. S. Gafiyatullina
{"title":"Neuroplasticity as the basis of motor rehabilitation","authors":"A. E. Amamchyan, G. S. Gafiyatullina","doi":"10.21886/2219-8075-2023-14-4-122-128","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-4-122-128","url":null,"abstract":"Diseases of the nervous system, accompanied by impaired locomotor reactions, occupy a leading place among the causes of disability. In this regard, the review carried out an analysis of national and foreign scientific data devoted to current views about the neurophysiological mechanisms of plasticity and their leading role in ensuring the recovery of movements in neuromotor disorders. Special attention is given both to the organization of the spinal locomotor center as a common final path in the implementation of motor rehabilitation, and to the management of the locomotor center, taking into account modern ideas about the structure of the locomotor body system. Based on the results of systematic literature data, the authors concluded that neuroplasticity of the spinal locomotor center and supraspinal centers of movement regulation is proven, and indicate the expediency of searching for methods which activating the plasticity of the central nervous system.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139281817","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 role of cardiotrophin-1 in chronic heart failure 心肌营养素-1 在慢性心力衰竭中的作用
Medical Herald of the South of Russia Pub Date : 2023-11-09 DOI: 10.21886/2219-8075-2023-14-4-108-113
L. Pakhnova, O. Bashkina, L. Voronina
{"title":"The role of cardiotrophin-1 in chronic heart failure","authors":"L. Pakhnova, O. Bashkina, L. Voronina","doi":"10.21886/2219-8075-2023-14-4-108-113","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-4-108-113","url":null,"abstract":"An analysis of the literature data on the role of the cardiotrophin-1 protein in chronic heart failure was carried out. Articles were selected and analyzed in PubMed, ScienceDirect, ProQuest, GoogleScholar, Cochrane, Medline, AMED, EMBASE, CINHAL, SportDiscus, Scopus and PEDro databases. The search for articles was carried out using the keywords: «Heart failure», «Biological markers», «Cardiotrophin-1», «Galectin-3», «Myocardium» and their combinations. Inclusion criteria were publication date from 2017 to 2022, clinical studies, meta-analyses and systematic reviews, randomized controlled trials, availability of the full text in the public domain or the abstract. Exclusion criteria: abstracts, monographs, textbooks, publication date before 2017, inconsistency with the research topic. A total of 80 publications were found. The review included 18 publications from 2017 to 2022 that corresponded to the topic and purpose of the study and were significant for revealing the subject of the study. Information is presented on the role of cardiotrophin-1 in chronic heart failure. Cardiotrophin-1 is activated in cardiac fibroblasts and cardiomyocytes in response to mechanical, humoral, metabolic and hypoxic stress. This biomarker is abundantly expressed in cardiac tissue and its overexpression is mainly stimulated by ventricular stretch/pressure, which promotes myocardial hypertrophy. Experimental administration of cardiotrophin-1 leads to fibrosis and myocardial remodeling, which indicates its role as a diagnostic biomarker in these pathologies and chronic heart failure in general.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139282344","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
Fixed drug eruption caused by fluconazole 氟康唑引起的固定药疹
Medical Herald of the South of Russia Pub Date : 2023-11-08 DOI: 10.21886/2219-8075-2023-14-4-11-16
T. N. Myasnikova, T. Latysheva, T. Romanova, V. V. Smirnov
{"title":"Fixed drug eruption caused by fluconazole","authors":"T. N. Myasnikova, T. Latysheva, T. Romanova, V. V. Smirnov","doi":"10.21886/2219-8075-2023-14-4-11-16","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-4-11-16","url":null,"abstract":"Objective: to characterize a group of patients with fixed drug erythema (FDE) caused by fluconazole to determine the sensitivity and specificity of the local provocative application test (LPAT) and to evaluate cross-allergenic reactivity with other antifungal drugs of the azole group.Materials and methods: a prospective study was conducted in the period from 2012 to 2022. 347 patients with delayed drug hypersensitivity (DDH) were consulted, FDE could be suspected in 86 patients (24.8%), of which 23 patients were caused by fluconazole (26.8%). We included patients with suspected fluconazole FDE (n=23). LPAT with fluconazole was performed in 12 patients, drug provocation test (DPT) with ketoconazole – 17, DPT with itraconazole – 15, DPT with fluconazole – 1.Results: the ratio of men and women was 1:6.3, the average age was 30.39±10.23 years. In 1 patient, the diagnosis of FDE caused by fluconazole was withdrawn. Number of reactions: 1 – in 2 patients (9.1%), more than one reaction – in 20 (90.9%). 4 patients (18.2%) had atopy. Sensitivity of LPAT for diagnosing DDH in FDE caused by fluconazole was 41.7%, specificity – 100%, false-negative rate – 58.3%, positive predictive value – 100%. DPT with ketoconazole, itraconazole was negative in 100% of cases.Conclusions: the results obtained allow us to conclude that FDE caused by fluconazole in the vast majority of cases developed in women aged 19 to 30 years. Since patients with FDE caused by fluconazole tolerate ketoconazole and itraconazole well, it is highly likely that they can switch from fluconazole to one of these drugs. LPAT should be used for diagnosing FDE caused by fluconazole, since it was absolutely safe for the patient and allowed avoiding DPT in 42% of patients. Importantly that the timely and correct diagnosis in more than 90% of cases, it was possible to prevent the development of a repeated reaction to fluconazole.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139283115","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
Immunological and epidemiological effectiveness of tularemia vaccination in the Donbass region 顿巴斯地区接种土拉菌疫苗的免疫和流行病学效果
Medical Herald of the South of Russia Pub Date : 2023-11-01 DOI: 10.21886/2219-8075-2023-14-4-66-76
O. A. Trunova, L. V. Skrypka, A. Bagriy, E. V. Prochorov, N. Reznichenko
{"title":"Immunological and epidemiological effectiveness of tularemia vaccination in the Donbass region","authors":"O. A. Trunova, L. V. Skrypka, A. Bagriy, E. V. Prochorov, N. Reznichenko","doi":"10.21886/2219-8075-2023-14-4-66-76","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-4-66-76","url":null,"abstract":"Objective: to evaluate the epidemiological and immunological efficacy of tularemia vaccination in the Donbass region from 1991 to the present.Materials and methods: data on the incidence of tularemia, immunization coverage of the population, results of intradermal tests with tularin, agglutination reaction and indirect hemagglutination reaction with tularemia antigen were analyzed.Results: since 2012, immunization against tularemia has not been carried out on the territory of the republic. Since 2015, this approach has resulted in the emergence of foci with multiple cases of human tularemia. Cases were registered on the territory of natural foci of Novoazovsky and Yasinovatsky districts. Since 2017, immunization of the population in enzootic territories has been resumed, planning and selection of contingents to be vaccinated was carried out in a differentiated manner. According to epidemic indications, 400 people were vaccinated from among those at risk of contracting tularemia. In 2020– 2022 vaccination was not carried out. In the five months of 2023, 520 people were vaccinated against tularemia, 80 people were revaccinated.Conclusions: the use of tularemia vaccine in the Donetsk region for 70 years led to the containment of tularemia, demonstrating the epidemiological and immunological effectiveness of specific immunoprophylaxis. The armed conflict and the cessation of vaccination led to an increase in the activity of the epidemic process in natural foci among animals and a significant increase in the incidence of tularemia in humans.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139306021","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
10 Myths about Psychosomatics 关于心身医学的 10 个神话
Medical Herald of the South of Russia Pub Date : 2023-10-31 DOI: 10.21886/2219-8075-2023-14-4-96-107
V. Soldatkin, S. V. Soldatkina
{"title":"10 Myths about Psychosomatics","authors":"V. Soldatkin, S. V. Soldatkina","doi":"10.21886/2219-8075-2023-14-4-96-107","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-4-96-107","url":null,"abstract":"This article is devoted to the actual problems of psychosomatic medicine. Common myths are discussed, according to which only 7 psychosomatic diseases are known (restrictive interpretation), or alternatively, all human diseases are psychosomatic (expansive interpretation). The article presents a modern classification of psychosomatic disorders, information on predisposition to them, and highlights the main concepts of pathogenesis. Attention is devoted to the main forms of somatoform disorders, organic neuroses, nosogenic disorders, and the problem of hypochondria is illuminated. In this article attention is paid to the need for an integrated approach to the treatment of psychosomatic disorders, including the impact on both mental and somatic components. The requirements for the use of psychopharmacological drugs in psychosomatic medicine are given, emphasis is placed on the principle of «minimum sufficiency», which requires the use of minor doses of safe drugs that can cure the psychosomatic symptoms and are capable to treat the diagnosed mental disorders. The main non-drug methods aimed at correcting psychosomatic disorders are presented. The authors are convinced that in the field of psychosomatics the chances for successful diagnosis and therapy are given by the concept of «counter movement» – the interdisciplinary interaction of psychiatrists and internists, the essence of which is the urgent need for interdisciplinary cooperation of psychiatrists and internists, which increases the chances of successful assistance in such a complex and myth-rich field like psychosomatics.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139307222","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
Clinical cases of an accessory spleen in the pelvic and pelvic splenosis 盆腔附属脾脏和盆腔脾脏狭窄的临床病例
Medical Herald of the South of Russia Pub Date : 2023-10-26 DOI: 10.21886/2219-8075-2023-14-4-83-88
U. A. Strupeneva, O. A. Efimova-Korzeneva, E. I. Kluchnikova
{"title":"Clinical cases of an accessory spleen in the pelvic and pelvic splenosis","authors":"U. A. Strupeneva, O. A. Efimova-Korzeneva, E. I. Kluchnikova","doi":"10.21886/2219-8075-2023-14-4-83-88","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-4-83-88","url":null,"abstract":"The article describes cases of diagnosis of an additional spleen in the pelvis and splenosis of the pelvis in women, detected by ultrasound, confirmed by MRI. The relevance of the publication of the presented observations is determined by the rarity of such localization of the spleen and splenosis in the pelvis and the low awareness of obstetricians and gynecologists, most often conducting ultrasound examination of pelvic organs, about this pathology. Cases of an accessory spleen and splenosis in the abdomen are known and written in the literature, while similar findings in the pelvis are, firstly, a rare find, and secondly, ultrasound examination in gynecology is carried out by obstetricians-gynecologists, who rarely meet with surgical pathology, thirdly, the echographic picture requires differential diagnosis with endometrioma, hemangioma, primary and metastatic cancer, and splenosis and accessory spleen should also be differentiated from each other. The article presents two of our own clinical cases of splenosis and accessory spleen with US and MRI data, discusses the reasons for difficulties in diagnosis and key criteria for differential diagnosis, and also includes a review of the literature on this topic. Based on all of the above, it was concluded that should not forget about such a rare but possible diagnosis as pelvic splenosis, and also remember about a possible congenital condition – accessory spleen.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139313610","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
Risk factors for the development of discoordinated general activities as one of the variety of anomalies of uterus contractility during labor 不协调的一般活动发展的危险因素作为各种子宫收缩异常在分娩期间
Medical Herald of the South of Russia Pub Date : 2023-06-28 DOI: 10.21886/2219-8075-2023-14-2-18-25
A. Borshcheva, G. M. Pertseva, N. Alekseeva
{"title":"Risk factors for the development of discoordinated general activities as one of the variety of anomalies of uterus contractility during labor","authors":"A. Borshcheva, G. M. Pertseva, N. Alekseeva","doi":"10.21886/2219-8075-2023-14-2-18-25","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-2-18-25","url":null,"abstract":"   Objective: to identify risk factors for the occurrence of discoordinated labor activity (DRD) and to conduct a comparative analysis of them in first- and repeat-bearing women.   Materials and methods: the analysis of the course of pregnancy and the outcome of childbirth in 175 women with DRD was carried out. The cases of DRD over five years have been analyzed. All women underwent general clinical studies, ultrasound diagnostics (ultrasound), dopplerometry (DPM), cardiotocography (CTG).   Results: functional disorders of the autonomic nervous system, morphological changes in the cervix, transferred FGM, as well as a combination of these types of pathology can be predictors of the development of DDD. There were no significant differences in the number of pregnant women suffering from NCD, having FGM, who suffered complications during pregnancy, as well as in the number of patients with prenatal and early discharge of amniotic fluid in the two groups. There are significant differences in the number of women with morphological changes in the cervix, they are significantly more in the second group. In women of the second group, significantly more often than in the first, delivery was performed by caesarean section.   Conclusions: to reduce DRD in childbirth, in the process of pre-pregnancy preparation, it is necessary to identify risk groups, which will include pregnancy-planning patients with VSD, morphological changes in the cervix, VZHPO. These women should be recommended correction of the existing genital pathology. At the onset of pregnancy, patients with VSD should be recommended to undergo psychoprophylactic preparation for childbirth. These measures, in our opinion, will help to reduce the percentage of DRD, and reduce the overall percentage of delivery by caesarean section.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73729643","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
Optimization of management approaches for patients with cervical intraepithelial neoplasia mildly (LSIL) associated with high oncogenic risk human papillomaviruses 宫颈轻度上皮内瘤变(LSIL)伴高致癌性人乳头瘤病毒患者的治疗方法优化
Medical Herald of the South of Russia Pub Date : 2023-06-28 DOI: 10.21886/2219-8075-2023-14-2-5-17
V. G. Anufrieva, E. Lebedenko, V. V. Voloshin, O. V. Gaida
{"title":"Optimization of management approaches for patients with cervical intraepithelial neoplasia mildly (LSIL) associated with high oncogenic risk human papillomaviruses","authors":"V. G. Anufrieva, E. Lebedenko, V. V. Voloshin, O. V. Gaida","doi":"10.21886/2219-8075-2023-14-2-5-17","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-2-5-17","url":null,"abstract":"   Objective: To improve the management of mild cervical dysplasia by correcting serum folic acid as an epigenetic risk factor for disease progression.   Materials and methods: 90 patients with different outcomes of dynamic follow-up of LSIL associated with one type of HPV VCR were included in the study (16, 18, 33). Group I — 43 patients with regression of the disease; Group II — 30 patients with persistence of HPV infection and group III — 17 patients with LSIL progression. The effectiveness of the differentiated approach to the management of patients in the study groups was assessed based on the results of cytology of cervical smears and immunocytochemical reaction, the level of viral load, the results of colposcopic examination, and the dynamics of serum folic acid levels. Statistical processing of the results was performed using IBM SPSS Statistics 28.0.1.1, STATISTICA 13.5.0.17 and MedCalc 20.027.   Results: the prognostic significance of a number of anamnestic parameters and serum folate deficiency, the totality of which can be used as predictors of disease outcome progression, has been established; a computer program has been developed to calculate the individual risk of disease progression (IRD), which facilitates the use of the developed method for calculating progression in clinical practice.   Conclusions: The proposed method with a high degree of reliability and informativeness allows predicting the progression of LSIL without violating the algorithm of current clinical recommendations, timely forming among patients a high-risk group for the development of a more severe form of the disease (HSIL) and individually determining further treatment tactics.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88969436","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
Chronic traumatic encephalopathy in athletes 运动员慢性创伤性脑病
Medical Herald of the South of Russia Pub Date : 2023-06-28 DOI: 10.21886/2219-8075-2023-14-2-97-105
Y. G. Yakovlenko, V. Fomin, N. V. Chertov, O. V. Chertov
{"title":"Chronic traumatic encephalopathy in athletes","authors":"Y. G. Yakovlenko, V. Fomin, N. V. Chertov, O. V. Chertov","doi":"10.21886/2219-8075-2023-14-2-97-105","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-2-97-105","url":null,"abstract":"   The problem of chronic traumatic encephalopathy is extremely relevant from both medical and sports points of view. Unfortunately, in the domestic literature to date, this issue is not discussed enough. The consequences of repetitive mild traumatic brain injury in sports play an important social role, which determines the relevance of studying the problem and the need to develop methods for solving it. This article provides a brief review of the literature on the chronic consequences of repetitive mild traumatic brain injury in athletes predominantly in contact sports. Statistical data on the prevalence of chronic traumatic encephalopathy in professional and non-professional sports associations are given. The issue of development conditions and mechanisms of pathogenesis of the studied pathology is discussed. Changes in the substance of the brain at the microstructural level, pathological biochemical reactions and factors of genetic predisposition are described. Modern criteria for the clinical diagnosis of traumatic encephalopathy, as well as criteria for differential diagnosis with other neurodegenerative diseases, are indicated. The main pathogenetic mechanisms of the development of clinically similar, but exclusively genetically determined neurodegenerations are briefly presented. An adapted classification of concussion in athletes and criteria for returning to sports activities after a mild traumatic brain injury are given. Special attention is paid to the radiological diagnosis of traumatic encephalopathy, based on modern methods of neuroimaging, such as magnetic resonance volumetry and positron emission tomography. At the end of the article, data are presented on promising directions for the development of methods for treating the disease under study.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83057551","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: 3
A case of PURA syndrome in a newborn child (neurodevelopmental disorder syndrome with neonatal respiratory failure, hypotension and feeding difficulties; nEDRIHf(OMIM 616158)) 新生儿PURA综合征1例(伴有新生儿呼吸衰竭、低血压和喂养困难的神经发育障碍综合征)nEDRIHf(616158)人类)
Medical Herald of the South of Russia Pub Date : 2023-06-28 DOI: 10.21886/2219-8075-2023-14-2-84-89
L. Kravchenko, K. I. Lazareva, L. I. Monat, M. Levkovich
{"title":"A case of PURA syndrome in a newborn child (neurodevelopmental disorder syndrome with neonatal respiratory failure, hypotension and feeding difficulties; nEDRIHf(OMIM 616158))","authors":"L. Kravchenko, K. I. Lazareva, L. I. Monat, M. Levkovich","doi":"10.21886/2219-8075-2023-14-2-84-89","DOIUrl":"https://doi.org/10.21886/2219-8075-2023-14-2-84-89","url":null,"abstract":"   A clinical observation of a newborn child with an extremely rare disease - PURA syndrome is presented. In the world scientific literature, there is a limited number of publications devoted to this pathology, which is the main reason that determines the complexity of diagnosis. This case demonstrates the need for persistent severe myasthenic syndrome in newborns, in addition to excluding hereditary metabolic diseases, to conduct whole genome DNA sequencing to detect PURA syndrome. A clinical case in a young child is presented as an example of a severe illness with an unfavorable course and the likelihood of a worsening separated prognosis.   The goal was to highlight the clinical manifestations, the complexity of the treatment of this pathology by neonatologists, pediatricians, neurologists from the standpoint of improving the quality of diagnosis of this pathology. ","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79230050","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
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