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Skersinis mielitas po COVID-19: klinikinis atvejis COVID-19 后横贯性脊髓炎:病例报告
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.21
I. Vienažindytė, R. Balnytė, Dž. Šleiteris, M. Ališauskienė
Currently, a significant number of post-COVID-19 disease neurological disorders still occur, and precise analysis of them could expand the knowledge of the neurological community for future pandemics. It is important to evaluate and recognize potential neurological manifestations and complications of COVID-19, as some of them can progress rapidly and require urgent treatment.We present a clinical case of transverse myelitis after a COVID-19 in a 35-year-old man who was treated at the Neurology Department of the Hospital of Lithuanian University of Health Sciences Kaunas Clinics.
目前,仍有大量的covid -19后疾病神经系统疾病发生,对它们进行精确分析可以扩大神经科学界的知识,以应对未来的大流行。评估和识别COVID-19潜在的神经系统表现和并发症非常重要,因为其中一些症状可能会迅速发展,需要紧急治疗。我们报告了一例在立陶宛卫生科学大学考纳斯诊所医院神经内科治疗的35岁男性COVID-19后横贯脊髓炎的临床病例。
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引用次数: 0
Nuovargis po subarachnoidinės hemoragijos: geros klinikinės išeities pacientų tyrimas 蛛网膜下腔出血后的疲劳:对临床疗效良好的患者的研究
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.11
G. Makarevičius, K. Pilypaitė, G. Terbetas, G. Šustickas, G. Bulotienė
Background. Recent studies have shown that the prevalence of fatigue in patients after subarachnoid haemorrhage (SAH) is high. However, data on patients with good clinical outcome are still scarce, since in clinical practice, the condition of patients is usually judged by physical parameters and mental condition is rarely considered. Thus, we aimed to determine the risk factors and prevalence of chronic fatigue among SAH patients in Lithuania.Material and methods. Patients with good clinical outcome (Glasgow outcome scale=5, no major paresis) who were diagnosed with SAH and treated at the Republican Vilnius University Hospital between January 2018 – January 2021 were studied at least 6 months after discharge from the hospital. Patients diagnosed with other medical conditions known to result in chronic fatigue were excluded. To evaluate fatigue symptoms, patients were asked to fill in the Lithuanian version of the Multidimensional Fatigue Inventory (MFI-20L) questionnaire. Analyses were performed using RStudio version 2022.02.1. Results were considered statistically significant at p value <0.05. Results. Total of 30 patients participated in our study: 20 female (66.67%) and 10 male (33.33%), median age 47 years (range 29-68). The median duration between SAH and fatigue evaluation was 37.5 months (range 11-46). Mean MFI-20L scores on fatigue subscales were 0.59±0.27 for general, 0.57±0.27 for physical, 0.55±0.29 for mental fatigue, 0.55±0.29 for reduced activity, and 0.44±0.22 for reduced motivation subscales. There were no statistically significant mean differences of general fatigue score between different age (p=0.64) and sex (p=0.20) groups. Mean general fatigue score between patients who had vasospasm (p=0.21) or any complication (p=0.68) after SAH did not differ statistically significantly from those who had not. Mean general fatigue score was statistically significantly higher in patients with poorer condition on admission (defined as Hunt and Hess grade >2) (p=0.02) and in patients with a longer period after SAH (p=0.02).Conclusions. Fatigue is pronounced in patients who survive SAH. This is most evident in those patients who had poorer clinical condition on admission and worsened over time. General and physical fatigue were the most pronounced types of fatigue in our study group.
背景。最近的研究表明,在蛛网膜下腔出血(SAH)患者疲劳的患病率很高。然而,临床预后良好的患者的数据仍然很少,因为在临床实践中,通常以身体参数来判断患者的状况,很少考虑患者的精神状况。因此,我们的目的是确定立陶宛SAH患者慢性疲劳的危险因素和患病率。材料和方法。2018年1月至2021年1月期间在维尔纽斯共和国大学医院诊断为SAH并接受治疗的临床结果良好的患者(格拉斯哥结局量表=5,无严重轻瘫)在出院后至少6个月进行研究。被诊断患有其他已知导致慢性疲劳的疾病的患者被排除在外。为了评估疲劳症状,患者被要求填写立陶宛版多维疲劳量表(MFI-20L)问卷。使用RStudio版本2022.02.1进行分析。p值为<0.05,认为结果具有统计学意义。结果。本研究共纳入30例患者,其中女性20例(66.67%),男性10例(33.33%),中位年龄47岁(29-68岁)。从SAH到疲劳评估的中位持续时间为37.5个月(范围11-46)。MFI-20L疲劳量表的平均得分为:一般(0.59±0.27)、体力(0.57±0.27)、精神(0.55±0.29)、活动减少(0.55±0.29)、动机减少(0.44±0.22)。不同年龄组(p=0.64)、性别组(p=0.20)一般疲劳评分均值差异无统计学意义。SAH后发生血管痉挛(p=0.21)或任何并发症(p=0.68)的患者的平均一般疲劳评分与未发生血管痉挛的患者无统计学差异。入院时病情较差的患者(定义为Hunt and Hess分级>2)的平均一般疲劳评分(p=0.02)和SAH后时间较长的患者(p=0.02)均有统计学意义。在SAH存活的患者中,疲劳是明显的。这在入院时临床状况较差并随时间恶化的患者中最为明显。在我们的研究组中,一般疲劳和身体疲劳是最明显的疲劳类型。
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引用次数: 0
Tuberozinės sklerozės kompleksas ir epilepsija. Literatūros apžvalga 结节性硬化综合征与癫痫。文献综述
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.9
I. Kasiulevičiūtė
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the presence of benign tumors in many organs. The pathogenic mutation is found in either the TSC1 or TSC2 tumor suppressor genes. The presence of cortical or subcortical tubers is associated with focal epileptiform discharges on the electroencephalogram and subclinical seizures prior to the onset of clinical seizures. It is known that epileptic seizures in tuberous sclerosis are very resistant to the treatment, therefore, developmental delay usually occurs. In the last decade, more attention has been paid to early recognition and control of seizures (with vigabatrin or everolimus) in tuberous sclerosis complex, as this is highly correlated with improved developmental and neurological outcomes.The article reviews epilepsy and preventive antiepileptic treatment for tuberous sclerosis complex.
结节性硬化症(TSC)是一种罕见的遗传性疾病,其特征是在许多器官中存在良性肿瘤。致病性突变在TSC1或TSC2肿瘤抑制基因中发现。皮质或皮质下结节的存在与脑电图上局灶性癫痫样放电和临床发作前的亚临床发作有关。众所周知,结节性硬化症的癫痫发作对治疗具有很强的抵抗力,因此通常会发生发育迟缓。在过去的十年中,人们越来越关注结节性硬化症的早期识别和癫痫发作的控制(使用维加巴林或依维莫司),因为这与改善发育和神经预后高度相关。本文就结节性硬化症的癫痫及预防性抗癫痫治疗作一综述。
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引用次数: 0
Regos nervo glioma 神经胶质瘤
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.18
U. Masilionytė, E. Zarambaitė, B. Glebauskienė, A. Radžiūnas
Optic nerve glioma (ONG) is usually a low-grade tumor of the optic nerve. ONG can affect not only the optic nerve, but also the optic nerve chiasma and optic nerve tract. ONG can be classified as associated with neurofibromatosis type 1 (NF1) or sporadic ONG. Sporadic gliomas are more commonly diagnosed in adults, have an aggressive course, and are known to have a poor outcome. The disease can be asymptomatic. ONG often causes visual disturbances such as reduced visual acuity, visual field defects, and impaired color vision; due to the tumor mass effect, proptosis, strabismus, and diplopia are possible. As the disease progresses, various neurological symptoms can appear, including headache, hemiplegia, and endocrine disorders such as early maturation, growth hormone hypersecretion, or deficiency. A presumed diagnosis is based on clinical presentation and neuroimaging findings. Meanwhile, biopsy should be avoided due to the high probability of optic nerve damage. Treatment is individual for each patient, but remains controversial to this day. Thus, in this article, we review the prevalence, clinic, diagnostic and treatment options of ONG.
视神经胶质瘤通常是视神经的低级别肿瘤。ONG不仅可累及视神经,还可累及视神经交叉和视神经束。ONG可分为与1型神经纤维瘤病(NF1)或散发性ONG相关。散发性神经胶质瘤更常见于成人,具有侵袭性病程,已知预后较差。这种疾病可以是无症状的。ONG常引起视觉障碍,如视力下降、视野缺损和色觉受损;由于肿瘤肿块效应,有可能出现突出、斜视和复视。随着病情的发展,可出现各种神经系统症状,包括头痛、偏瘫和内分泌紊乱,如早熟、生长激素分泌过多或缺乏。假定的诊断是基于临床表现和神经影像学结果。同时,由于视神经损伤的可能性较大,应避免活检。治疗方法因人而异,但至今仍有争议。因此,在本文中,我们回顾了ONG的患病率,临床,诊断和治疗方案。
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引用次数: 0
Pediatric optic neuritis: literature review 小儿视神经炎:文献综述
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.15
S. Bubnytė, J. Andrulionytė
Pediatric optic neuritis is an optic nerve inflammation occuring in 1 to 5 children out of 100,000 per year. In children, optic neuritis is rarely associated with multiple sclerosis, more often it can be associated with specific infections, such as diseases of the adjacent sinuses or orbital structures and infectious or infiltrative diseases of the brain or meninges, or it may develop as a separate pathological condition. This pathology is characterized by a sudden loss of vision, pain, especially associated with eye movements, and impaired color perception. It is diagnosed by performing visual function examination, morphological and radiological examinations. Optic neuritis is treated with corticosteroids, while pulse therapy can even speed up recovery in children from 7 to 2 weeks.The aim of this article is to review the symptoms, etiology, pathogenesis, diagnosis, treatment options, and prognosis of pediatric optic neuritis described in the literature.
小儿视神经炎是一种视神经炎症,每年10万名儿童中有1至5名发生。在儿童中,视神经炎很少与多发性硬化症相关,更多的情况下,它可能与特定的感染相关,如相邻鼻窦或眶结构的疾病以及大脑或脑膜的感染性或浸润性疾病,或者它可能作为一种单独的病理状况发展。这种病理的特点是突然丧失视力,疼痛,特别是与眼球运动有关,以及颜色感知受损。通过视觉功能检查、形态学和放射学检查来诊断。视神经炎用皮质类固醇治疗,而脉冲治疗甚至可以加速儿童7至2周的恢复。本文的目的是回顾在文献中描述的儿童视神经炎的症状,病因,发病机制,诊断,治疗方案和预后。
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引用次数: 0
A retrospective analysis of migraine prophylaxis with anti-CGRP monoclonal antibodies at the hospital of Lithuanian University of Health Sciences Kaunas Clinics 立陶宛卫生科学大学考纳斯诊所医院抗cgrp单克隆抗体预防偏头痛的回顾性分析
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.10
V. Karpavičiūtė, K. Statkevičienė, G. Žemgulytė
Background. Migraine is a primary headache disorder described by episodic attacks that can progress to chronic migraine. Preventive treatment of anti-calcitonin gene-related peptide monoclonal antibodies (anti-CGRP mAbs) is currently being widely investigated worldwide.Materials and methods. A total of 85 patients with migraine were enrolled in a retrospective study conducted in 2019-2021. Demographic and clinical data were collected and analyzed. Subjects were divided into groups by migraine course: chronic migraine (CM) and episodic migraine (EM), and according to the medicine used (erenumab, fremanezumab). Treatment efficacy was assessed at 3 and 6 months after the start of treatment. A reduction of >50% in monthly headache days (MHDs) was considered a good response. Statistical analysis was performed using IBM SPSS statistics 27.0, the χ² test of homogeneity, Fisher’s exact, Student’s t, and Mann-Whitney tests.Results. Of the 85 migraine patients, 75 (88.2%) were women. EM was diagnosed in 33 (38.8%) and CM in 52 (61.2%) patients. After treatment, the number of MHDs was significantly reduced in both anti-CGRP mAbs therapy groups (p<0.001). The response to anti-CGRP mAbs was similar between the EM and CM groups. A slightly better response was achieved with fremanezumab than erenumab (83.3% vs. 73.1% at 3 months; 83.3% vs. 65.7% at 6 months), but the difference was not significant (p=0.541; p=0.149). In 24 (58.5%) patients initially given 70 mg erenumab, after a median follow-up of 3 months (interquartile range: 2-6) it was decided to increase the dose of erenumab to 140 mg due to insufficient effect. The initial dose was increased more often in patients with chronic migraine (p=0.027).Conclusions. Erenumab and fremanezumab are equally effective and equivalent for both migraine types. It was observed that more than half of the patients required a dose increase when treated with erenumab 70 mg, especially in CM group.
背景。偏头痛是一种原发性头痛疾病,发作性发作可发展为慢性偏头痛。抗降钙素基因相关肽单克隆抗体(anti-CGRP mab)的预防性治疗目前在世界范围内得到广泛研究。材料和方法。共有85名偏头痛患者参加了2019-2021年进行的回顾性研究。收集和分析人口统计学和临床资料。受试者根据偏头痛病程分为组:慢性偏头痛(CM)和发作性偏头痛(EM),并根据使用的药物(erenumab, fremanezumab)。在治疗开始后3个月和6个月评估治疗效果。每月头痛天数(mhd)减少50%被认为是良好的反应。统计学分析采用IBM SPSS statistics 27.0、χ 2齐性检验、Fisher精确检验、Student t检验和Mann-Whitney检验。85例偏头痛患者中,75例(88.2%)为女性。EM 33例(38.8%),CM 52例(61.2%)。治疗后,抗cgrp单克隆抗体治疗组的mhd数量显著减少(p<0.001)。EM组和CM组对抗cgrp单克隆抗体的反应相似。fremanezumab的疗效略好于erenumab(3个月时为83.3% vs. 73.1%;83.3% vs. 65.7% 6个月),但差异无统计学意义(p=0.541;p = 0.149)。在24例(58.5%)最初给予70mg erenumab的患者中,在中位随访3个月(四分位数间距:2-6)后,由于效果不足,决定将erenumab的剂量增加到140mg。慢性偏头痛患者初始剂量增加较多(p=0.027)。Erenumab和fremanezumab对两种偏头痛类型同样有效。观察到,超过一半的患者在使用伊瑞那单抗70 mg治疗时需要增加剂量,特别是CM组。
{"title":"A retrospective analysis of migraine prophylaxis with anti-CGRP monoclonal antibodies at the hospital of Lithuanian University of Health Sciences Kaunas Clinics","authors":"V. Karpavičiūtė, K. Statkevičienė, G. Žemgulytė","doi":"10.29014/ns.2022.26.10","DOIUrl":"https://doi.org/10.29014/ns.2022.26.10","url":null,"abstract":"Background. Migraine is a primary headache disorder described by episodic attacks that can progress to chronic migraine. Preventive treatment of anti-calcitonin gene-related peptide monoclonal antibodies (anti-CGRP mAbs) is currently being widely investigated worldwide.Materials and methods. A total of 85 patients with migraine were enrolled in a retrospective study conducted in 2019-2021. Demographic and clinical data were collected and analyzed. Subjects were divided into groups by migraine course: chronic migraine (CM) and episodic migraine (EM), and according to the medicine used (erenumab, fremanezumab). Treatment efficacy was assessed at 3 and 6 months after the start of treatment. A reduction of >50% in monthly headache days (MHDs) was considered a good response. Statistical analysis was performed using IBM SPSS statistics 27.0, the χ² test of homogeneity, Fisher’s exact, Student’s t, and Mann-Whitney tests.Results. Of the 85 migraine patients, 75 (88.2%) were women. EM was diagnosed in 33 (38.8%) and CM in 52 (61.2%) patients. After treatment, the number of MHDs was significantly reduced in both anti-CGRP mAbs therapy groups (p<0.001). The response to anti-CGRP mAbs was similar between the EM and CM groups. A slightly better response was achieved with fremanezumab than erenumab (83.3% vs. 73.1% at 3 months; 83.3% vs. 65.7% at 6 months), but the difference was not significant (p=0.541; p=0.149). In 24 (58.5%) patients initially given 70 mg erenumab, after a median follow-up of 3 months (interquartile range: 2-6) it was decided to increase the dose of erenumab to 140 mg due to insufficient effect. The initial dose was increased more often in patients with chronic migraine (p=0.027).Conclusions. Erenumab and fremanezumab are equally effective and equivalent for both migraine types. It was observed that more than half of the patients required a dose increase when treated with erenumab 70 mg, especially in CM group.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"100 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135695814","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
Machine Learning in Acute Stroke Neuroimaging. A Systematic Literature Review 机器学习在急性中风神经成像中的应用。系统文献综述
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.6
D. Matuliauskas, I. Stražnickaitė, A. Samuilis, D. Jatužis
Background. Artificial intelligence (AI) in medical imaging is a growing and promising technology that can be applied in stroke diagnosis. The study aims to overview studies that compare diagnostic performance of AI applications in stroke detection and seg- mentation of stroke lesions with and without human clinicians, appraising the models, study design, and metrics used. Materials and methods. This systematic review was performed using the PubMed search engine including articles published in the time frame of 2015 January 1 to 2021 July 23. A to- tal of 438 studies were found, out of which 60 were chosen for the review. Results. Only 2 out of 60 (3.3%) studies were prospective. Minimum unique computer tomography (CT) scans included for validation – 10, maximum – 21586, mean – 599, me- dian – 100, standard deviation – ±2801.1. The training set sizes consisted of minimum 28 CT scans, maximum – 24214, mean – 1279, median – 153, standard deviation – ±5006.7. Most popular software used in the studies were Brainomix (n=12, 20% of studies) and RAPID (n=12, 20%), 6 studies (10%) used convolutional neural networks, and 6 studies did not iden- tify the model or name of software used. The average value of the ROC AUC results reported was 0.884 and the average accuracy was 0.857. The average reported sensitivity and specific- ity were 0.746 and 0.862, respectively. 27 out of 60 studies used human operators, with the average number of human operators per study being 3.7±2.9. Conclusions. AI solutions can be widely applied in computation of infarct volumes. Us- ing AI in stroke diagnosis still requires further research with more prospective studies, more expert human operators, and more focus on evaluating secondary outcomes.
背景。医学影像中的人工智能(AI)是一项正在发展和有前途的技术,可以应用于脑卒中诊断。该研究旨在概述比较人工智能应用在卒中检测和卒中病变分割方面的诊断性能的研究,评估模型、研究设计和使用的指标。 材料和方法。该系统综述使用PubMed搜索引擎进行,包括在2015年1月1日至2021年7月23日期间发表的文章。总共有438项研究被发现,其中60项被选为综述。结果。60项研究中仅有2项(3.3%)为前瞻性研究。用于验证的最小计算机断层扫描(CT)扫描- 10次,最大- 21586次,平均- 599次,中位数- 100次,标准差-±2801.1次。训练集的大小包括最小28个CT扫描,最大- 24214个,平均值- 1279,中位数- 153,标准差-±5006.7。研究中最常用的软件是Brainomix (n= 12,20 %的研究)和RAPID (n= 12,20 %的研究),6项研究(n= 12,20 %)使用卷积神经网络,6项研究没有确定所用软件的模型或名称。报告的ROC AUC结果平均值为0.884,平均准确度为0.857。报告的平均敏感性和特异性分别为0.746和0.862。60项研究中有27项使用了人工操作人员,每项研究的人工操作人员平均人数为3.7±2.9。 结论。人工智能解决方案可广泛应用于梗死体积的计算。将人工智能用于脑卒中诊断还需要进一步的研究,需要更多的前瞻性研究,需要更专业的人工操作人员,需要更多地关注评估次要结果。
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引用次数: 0
Neurologiniai ir psichiatriniai simptomai, sukelti įgimtos veninės anomalijos 先天性静脉畸形引起的神经和精神症状
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.13
M. Gataveckaitė, R. Burbienė, R. Mameniškienė
One of the most common vascular brain malformations is developmental venous anomaly (DVA). This anomaly is usually considered to be asymptomatic but there are some reports in the literature about DVA causing neurological symptoms due to neurovascular compression, obstructive hydrocephalus, venous infarction, or intracerebral hemorrhage.There are no publications on DVA causing psychiatric symptoms. This paper presents a clinical case of DVA in which the patient develops a mood disorder along with neurological symptoms that are typical for a parietal brain lesion. Along with this clinical case, a review of literature is presented which includes classification of vascular brain malformations, prevalence of DVA, clinical manifestations, and characteristics in imaging studies. The article also reviews the functions of the parietal lobe, discusses mood disorders possibly related to parietal lesions, and briefly introduces cyclothymic disorder.
发育性静脉畸形是最常见的血管性脑畸形之一。这种异常通常被认为是无症状的,但文献中也有一些关于DVA引起神经血管压迫、阻塞性脑积水、静脉梗死或脑出血的神经系统症状的报道。没有关于DVA引起精神症状的出版物。本文提出了一个临床病例DVA,其中患者发展为情绪障碍以及神经系统症状,这是典型的顶叶脑病变。在此病例的基础上,我们对文献进行了回顾,包括血管性脑畸形的分类、DVA的患病率、临床表现和影像学研究的特点。文章还综述了顶叶的功能,讨论了可能与顶叶病变有关的心境障碍,并简要介绍了循环胸腺障碍。
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引用次数: 0
Ką naujo sužinojome apie galvos skausmą per COVID-19 pandemiją? Literatūros apžvalga 关于 COVID-19 大流行中的头痛,我们学到了什么?文献综述
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.16
E. Januškevičiūtė, J. Grigaitė, K. Ryliškienė
Headache is one of the most common neurological symptoms associated with coronavirus disease 19 (COVID-19), which can mimic primary headache phenotypes. COVID-19 and quarantine have affected both the course of primary headache and patient care strategies. The safety of migraine treatment with anti-CGRP (calcitonin gene-related peptides) monoclonal drugs has become important. Another challenge posed by the introduction of mass vaccination is vaccine-related headache, the most common neurological adverse event, and a less common complication, cerebral venous thrombosis. The article provides a brief overview of COVID-19 induced headache and its features, vaccination-induced headache, the impact of COVID-19 and quarantine on primary headache, the safety of anti-CGRP monoclonals, and the advantages and disadvantages of remote consultations on primary headaches.
头痛是与冠状病毒病19 (COVID-19)相关的最常见神经系统症状之一,它可以模拟原发性头痛表型。COVID-19和隔离既影响了原发性头痛的病程,也影响了患者护理策略。抗降钙素基因相关肽(cgrp)单克隆药物治疗偏头痛的安全性变得越来越重要。大规模疫苗接种带来的另一个挑战是疫苗相关头痛,这是最常见的神经系统不良事件,以及一种不太常见的并发症——脑静脉血栓形成。本文就新型冠状病毒感染引起的头痛及其特点、疫苗接种引起的头痛、新型冠状病毒感染及检疫对原发性头痛的影响、抗cgrp单克隆药物的安全性、原发性头痛远程会诊的优缺点等进行了简要综述。
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引用次数: 0
Veido-mentės-žasto raumenų distrofija: patogenezės, klinikinių simptomų ir gydymo apžvalga 面岬肱肌营养不良症:发病机制、临床症状和治疗综述
Pub Date : 2023-10-03 DOI: 10.29014/ns.2022.26.17
T. Mikalauskas, B. Burnytė
Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy characterised by weakness of the face, scapula, upper arm, and other muscles. It can also lead to problems with the eyes, hearing, breathing, heart, and central nervous system. The disease is divided into two types: the first type occurs in 95% of patients and the second type occurs in 5%. The phenotypic differences between the two types are not distinct, both resulting from dysregulation of DUX4 expression leading to skeletal muscle toxicity. The first type is characterised by a reduction in D4Z4 repeats, while the second type is characterised by mutations in genes encoding epigenetic regulators such as SMCHD1. In recent years, significant progress has been made in understanding the pathogenesis, clinical features, and progression of the disease, but there is still no specific treatment due to the obstacles in the development of gene therapy. However, supportive measures, including physiotherapy and orthotics, can help improve muscle function and mobility, slow the progression of the disease, and control other symptoms. The disease can present in many ways, from an asymptomatic form to a life dependent on a wheelchair, so it is important for doctors to keep up to date with the latest information so they can identify this genetic disorder faster and help the patient live a full life.
面肩肱骨肌营养不良症是第三种最常见的肌肉营养不良症,其特征是面部、肩胛骨、上臂和其他肌肉无力。它还会导致眼睛、听力、呼吸、心脏和中枢神经系统出现问题。该病分为两种类型:第一种发生在95%的患者中,第二种发生在5%的患者中。两种类型之间的表型差异并不明显,都是由于DUX4表达失调导致骨骼肌毒性。第一种类型的特征是D4Z4重复减少,而第二种类型的特征是编码表观遗传调节因子(如SMCHD1)的基因突变。近年来,人们对该病的发病机制、临床特征、进展等方面的认识取得了重大进展,但由于基因治疗发展的障碍,目前尚无特异性治疗方法。然而,支持性措施,包括物理治疗和矫形器,可以帮助改善肌肉功能和活动,减缓疾病的进展,并控制其他症状。这种疾病可以以多种方式表现出来,从无症状的形式到依赖轮椅的生活,所以对医生来说,保持最新的信息是很重要的,这样他们就可以更快地识别这种遗传疾病,帮助病人过上充实的生活。
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