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Neuroplasticity as the basis of motor rehabilitation 神经可塑性是运动康复的基础
Pub Date : 2023-11-09 DOI: 10.21886/2219-8075-2023-14-4-122-128
A. E. Amamchyan, G. S. Gafiyatullina
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.
伴有运动反应障碍的神经系统疾病是导致残疾的主要原因。为此,本综述对国内外科学数据进行了分析,专门探讨了目前关于可塑性神经生理机制及其在确保神经运动障碍患者恢复运动方面的主导作用的观点。其中特别关注了脊柱运动中枢的组织,将其作为实施运动康复的共同最终途径,以及运动中枢的管理,同时考虑到有关运动机体系统结构的现代观点。根据系统性文献资料的结果,作者得出结论:脊柱运动中枢和脊髓上运动调节中枢的神经可塑性已得到证实,并指出寻找激活中枢神经系统可塑性的方法是适宜的。
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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
Pub Date : 2023-11-09 DOI: 10.21886/2219-8075-2023-14-4-108-113
L. Pakhnova, O. Bashkina, L. Voronina
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.
对有关心肌营养素-1 蛋白在慢性心力衰竭中的作用的文献数据进行了分析。文章在 PubMed、ScienceDirect、ProQuest、GoogleScholar、Cochrane、Medline、AMED、EMBASE、CINHAL、SportDiscus、Scopus 和 PEDro 数据库中进行筛选和分析。搜索文章时使用的关键词有"心力衰竭"、"生物标志物"、"心肌营养素-1"、"Galectin-3"、"心肌 "及其组合。纳入标准为:发表日期为 2017 年至 2022 年、临床研究、荟萃分析和系统综述、随机对照试验、公开发表的全文或摘要。排除标准:摘要、专著、教科书、出版日期在 2017 年之前、与研究主题不一致。共找到 80 篇出版物。综述包括 2017 年至 2022 年的 18 篇出版物,这些出版物与研究主题和目的相符,对揭示研究主题具有重要意义。资料介绍了心肌营养素-1在慢性心力衰竭中的作用。心脏成纤维细胞和心肌细胞在机械、体液、新陈代谢和缺氧压力下会激活心肌营养素-1。这种生物标志物在心脏组织中大量表达,其过度表达主要受到心室舒张/压力的刺激,从而促进心肌肥厚。实验性服用心肌营养素-1 会导致心肌纤维化和心肌重塑,这表明心肌营养素-1 在这些病症和慢性心力衰竭中具有诊断生物标志物的作用。
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引用次数: 0
Fixed drug eruption caused by fluconazole 氟康唑引起的固定药疹
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
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.
目的:描述一组由氟康唑引起的固定药物红斑(FDE)患者的特征,以确定局部刺激性应用试验(LPAT)的敏感性和特异性,并评估与唑类其他抗真菌药物的交叉过敏反应性。347名迟发性药物过敏(DDH)患者接受了会诊,86名患者(24.8%)疑似患有FDE,其中23名患者由氟康唑引起(26.8%)。我们纳入了疑似氟康唑 FDE 患者(23 人)。结果:男女比例为 1:6.3,平均年龄为(30.39±10.23)岁。有 1 名患者撤销了氟康唑引起的 FDE 诊断。反应次数1例--2名患者(9.1%),不止1例--20名患者(90.9%)。4 名患者(18.2%)有过敏反应。LPAT 诊断氟康唑引起的 FDE DDH 的敏感性为 41.7%,特异性为 100%,假阴性率为 58.3%,阳性预测值为 100%。使用酮康唑、伊曲康唑进行 DPT 检测,100% 的病例均为阴性。结论:根据所获得的结果,我们可以得出结论,氟康唑引起的 FDE 绝大多数发生在 19 至 30 岁的女性身上。由于氟康唑引起的 FDE 患者对酮康唑和伊曲康唑的耐受性良好,因此她们很有可能从氟康唑转用这两种药物中的一种。在诊断由氟康唑引起的皮肤过敏时,应使用 LPAT,因为它对患者绝对安全,而且 42% 的患者可以避免使用 DPT。重要的是,90%以上的病例都得到了及时和正确的诊断,从而避免了对氟康唑的重复反应。
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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
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
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.
目的:评估 1991 年至今顿巴斯地区接种土拉菌疫苗的流行病学和免疫学效果。材料与方法:分析了土拉菌病发病率、人口免疫覆盖率、土拉菌抗原皮内试验结果、凝集反应和间接血凝反应等数据。结果:自 2012 年起,共和国境内不再进行土拉菌病免疫接种。自2015年以来,这种做法导致出现了多例人类土拉菌病病例的病灶。在 Novoazovsky 区和 Yasinovatsky 区的自然疫源地出现了病例。自 2017 年以来,恢复了对疫区居民的免疫接种,以区别对待的方式规划和选择接种疫苗的特遣队。根据疫情迹象,从可能感染土拉菌病的人群中为 400 人接种了疫苗。2020 年至 2022 年没有进行疫苗接种。结论:顿涅茨克地区 70 年来一直使用土拉菌病疫苗,从而遏制了土拉菌病的蔓延,证明了特异性免疫预防在流行病学和免疫学方面的有效性。武装冲突和疫苗接种的停止导致动物自然疫点的流行过程更加活跃,人类的土拉菌病发病率显著增加。
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引用次数: 0
10 Myths about Psychosomatics 关于心身医学的 10 个神话
Pub Date : 2023-10-31 DOI: 10.21886/2219-8075-2023-14-4-96-107
V. Soldatkin, S. V. Soldatkina
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.
本文专门讨论心身医学的实际问题。文章讨论了一些常见的迷思,根据这些迷思,只有七种心身疾病是已知的(限制性解释),或者所有人类疾病都是心身疾病(扩张性解释)。文章介绍了心身疾病的现代分类、有关心身疾病易感性的信息,并强调了发病机理的主要概念。文章关注躯体形式障碍、器质性神经官能症、鼻源性障碍的主要形式,并阐明了疑病症问题。这篇文章关注了综合治疗心身疾病的必要性,包括对精神和躯体成分的影响。文章给出了在心身医学中使用精神药物的要求,强调了 "最低限度 "原则,即要求使用小剂量的安全药物,既能治疗心身症状,又能治疗已确诊的精神障碍。文中介绍了旨在纠正心身疾病的主要非药物方法。作者深信,在心身医学领域,"反运动 "概念--精神科医生和内科医生的跨学科互动--提供了成功诊断和治疗的机会,其本质是迫切需要精神科医生和内科医生的跨学科合作,这增加了在心身医学这样一个复杂且充满神话的领域成功提供援助的机会。
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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
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
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.
文章描述了通过超声波发现并经核磁共振成像证实的妇女盆腔内脾脏增大和盆腔脾肿大的诊断病例。发表这些观察结果的意义在于,盆腔脾脏和脾脏病变的这种定位非常罕见,而妇产科医生对这种病变的认识很低,他们最常做的是盆腔器官超声检查。腹部附属脾脏和脾脏肿大的病例已为人熟知并见诸于文献,而盆腔内的类似发现却很少见,首先,妇科超声检查由妇产科医生进行,他们很少接触外科病理检查;其次,超声图像需要与子宫内膜瘤、血管瘤、原发性和转移性癌症进行鉴别诊断,脾脏肿大和附属脾脏也应相互鉴别。文章介绍了我们自己的两例脾脏病和附属脾脏的临床病例,并提供了 US 和 MRI 数据,讨论了诊断困难的原因和鉴别诊断的关键标准,还包括对相关文献的回顾。基于以上所述,我们得出结论,不应忘记盆腔脾肿大这种罕见但可能的诊断,也不应忘记一种可能的先天性疾病--附属脾脏。
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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
Pub Date : 2023-06-28 DOI: 10.21886/2219-8075-2023-14-2-18-25
A. Borshcheva, G. M. Pertseva, N. Alekseeva
   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.
目的:确定发生劳动活动不协调(DRD)的危险因素,并对首次生育和多次生育妇女进行比较分析。材料与方法:对175例DRD患者的妊娠过程及分娩结局进行分析。对5年来的DRD病例进行了分析。所有女性均进行了一般临床研究、超声诊断(超声)、多普勒测量(DPM)、心脏造影(CTG)。结果:自主神经系统功能障碍、宫颈形态学改变、转移性女性生殖器切割以及这些病理类型的组合可作为DDD发展的预测因素。在患非传染性疾病、接受过女性生殖器切割、在怀孕期间出现并发症的孕妇人数以及两组产前和早期羊水排出的患者人数方面,没有显著差异。宫颈形态改变的妇女人数有显著差异,第二组明显更多。在第二组妇女中,剖腹产的比例明显高于第一组。结论:为减少分娩中的DRD,在孕前准备过程中,有必要识别危险人群,这将包括计划生育的VSD患者、宫颈形态学改变、VZHPO。这些妇女应建议纠正现有的生殖器病理。在怀孕初期,室间隔缺损患者应建议接受分娩前的心理预防准备。这些措施,在我们看来,将有助于减少DRD的百分比,并减少剖腹产分娩的总体百分比。
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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
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
   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.
目的:通过纠正血清叶酸作为疾病进展的表观遗传危险因素,改善轻度宫颈发育不良的管理。材料和方法:本研究纳入了90例LSIL合并一种HPV VCR的动态随访结果不同的患者(16,18,33)。I组- 43例病情消退患者;II组30例持续HPV感染,III组17例LSIL进展。根据子宫颈涂片和免疫细胞化学反应的细胞学结果、病毒载量水平、阴道镜检查结果和血清叶酸水平的动态变化来评估研究组患者差异化治疗方法的有效性。采用IBM SPSS Statistics 28.0.1.1、STATISTICA 13.5.0.17和MedCalc 20.027对结果进行统计处理。结果:一些遗忘参数和血清叶酸缺乏的预后意义已经确立,这些参数的总和可以作为疾病结局进展的预测因子;已经开发了一个计算机程序来计算疾病进展的个体风险(IRD),这有助于在临床实践中使用所开发的计算疾病进展的方法。结论:所提出的方法具有高度的可靠性和信息量,可以在不违反当前临床推荐算法的情况下预测LSIL的进展,及时形成患者中发展为更严重疾病(HSIL)的高危人群,并单独确定进一步的治疗策略。
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引用次数: 0
Chronic traumatic encephalopathy in athletes 运动员慢性创伤性脑病
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
   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.
从医学和运动的角度来看,慢性创伤性脑病的问题是非常相关的。遗憾的是,目前国内文献对这一问题的讨论还不够。运动中重复性轻度创伤性脑损伤的后果具有重要的社会作用,这就决定了研究这一问题的相关性和研究解决方法的必要性。这篇文章提供了一个简短的文献回顾,重复性轻度创伤性脑损伤的慢性后果的运动员主要是在接触运动。统计数据的流行慢性创伤性脑病在专业和非专业体育协会给出。讨论了所研究病理的发展条件和发病机制问题。在微观结构水平的大脑物质的变化,病理生化反应和遗传易感性的因素进行了描述。外伤性脑病的现代临床诊断标准,以及与其他神经退行性疾病的鉴别诊断标准。主要的发病机制的发展临床相似,但完全由遗传决定的神经变性简要介绍。一个适应的分类脑震荡在运动员和标准返回体育活动后,轻度创伤性脑损伤给出。特别关注创伤性脑病的放射学诊断,基于现代神经成像方法,如磁共振体积法和正电子发射断层扫描。在文章的最后,数据提出了有希望的方向,为发展的方法治疗疾病的研究。
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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)
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
   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. 
本文报告1例新生儿患有极为罕见疾病- PURA综合征的临床观察。在世界科学文献中,专门讨论这种病理的出版物数量有限,这是决定诊断复杂性的主要原因。本病例表明,除了排除遗传性代谢性疾病外,还需要对新生儿持续性重度肌无力综合征进行全基因组DNA测序以检测PURA综合征。临床病例在一个年幼的孩子是一个严重的疾病,不利的进程和分离预后恶化的可能性的例子。目的是强调临床表现,新生儿医生,儿科医生,神经科医生治疗这种病理的复杂性,从提高这种病理诊断质量的角度出发。
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引用次数: 0
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Medical Herald of the South of Russia
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