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Metopic suture: formation and clinical implications – a review 异位缝:形成与临床意义--综述
Pub Date : 2024-07-18 DOI: 10.15557/an.2024.0006
M. Podstawka, Andrzej Czajka, K. Zaczkowski, K. Wiśniewski, D. J. Jaskólski
The timing of suture closure and clinical implications of the metopic suture are still unknown. Premature fusion, causing craniosynostosis, happens rarely, but it may result in serious complications, such as craniofacial dysmorphology and neurodevelopmental problems. The clinical significance of metopism is still uncertain. The aim of this study was to review the literature and identify uncertain aspects associated with the formation and clinical implications of the metopic suture. The review showed significant variations in the typical age of metopic suture closure reported in the literature (from five months to seven years). Premature fusion of the suture, usually occurring before birth, may cause skull deformity and developmental disorders. Aetiology is probably multifactorial. Craniosynostosis may result in different phenotypes, ranging from mild changes to trigonocephaly. Diagnosis is achieved based on physical examination and computed tomography scans. Treatment is surgical and aims to achieve two goals: correction of craniofacial dysmorphology and prevention of further complications. Persistence of the metopic suture is diagnosed based on computed tomography scans and is considered to be an anatomical variant. The metopic suture is clinically significant if premature fusion occurs, causing craniofacial and neurodevelopmental disorders. The timing of the closure of the suture, and the aetiology of craniosynostosis and metopism require further research.
目前尚不清楚缝合闭合的时间和偏位缝合的临床影响。过早融合导致颅骨畸形的情况很少发生,但可能导致严重的并发症,如颅面畸形和神经发育问题。偏头畸形的临床意义尚不确定。本研究的目的是回顾文献,找出与偏侧缝的形成和临床意义相关的不确定因素。综述结果显示,文献中报道的变位缝闭合的典型年龄存在很大差异(从五个月到七年不等)。骨缝过早融合通常发生在出生前,可能会导致颅骨畸形和发育障碍。病因可能是多因素的。颅骨发育不全可能导致不同的表型,从轻微变化到三头畸形不等。诊断依据是体格检查和计算机断层扫描。治疗方法是手术,目的有两个:矫正颅面畸形和预防进一步的并发症。根据计算机断层扫描可诊断出偏侧缝持续存在,这被认为是一种解剖变异。如果发生过早融合,则偏侧缝具有重要的临床意义,会导致颅面和神经发育障碍。缝合的时间以及颅骨发育不全和偏头畸形的病因需要进一步研究。
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引用次数: 0
The first Polish experiences with SC natalizumab 第一个使用SC natalizumab的波兰人
Pub Date : 2023-05-29 DOI: 10.15557/an.2022.0024
Katarzyna Kapica-Topczewska, Paulina Matys, Elżbieta Jasińska, Maciej Huć, Ryszard Sędziak, Katarzyna Kubicka-Bączyk, Monika Adamczyk-Sowa, Alina Kułakowska
Natalizumab is a recombinant humanized monoclonal antibody, that binds to the integrin α4-subunit, inhibits the adhesion of lymphocytes to vascular endothelial cells and their infiltration into the central nervous system. In April 2021, a subcutaneous form of natalizumab, which until recently could only be administered intravenously, was registered in the European Union. Due to a shorter and simpler administration regimen, greater patient comfort and reduced healthcare costs, subcutaneous natalizumab is a highly convenient form of therapy, both for patients and healthcare professionals. The subcutaneous form is also an alternative for patients with difficult venous access. In this paper, we present four patients with relapsing-remitting multiple sclerosis of different duration, treated with natalizumab. The presented clinical cases are a summary of the first Polish experiences with subcutaneous natalizumab.
Natalizumab是一种重组人源化单克隆抗体,结合整合素α4亚基,抑制淋巴细胞对血管内皮细胞的粘附及其向中枢神经系统的浸润。2021年4月,一种皮下形式的natalizumab在欧盟注册,直到最近还只能静脉注射。由于更短、更简单的给药方案、更大的患者舒适度和更低的医疗成本,皮下natalizumab是一种非常方便的治疗形式,无论是对患者还是医疗保健专业人员。对于静脉通路困难的患者,皮下注射也是一种选择。在本文中,我们介绍了4例不同病程的复发-缓解型多发性硬化症患者,用那他珠单抗治疗。所提出的临床病例是波兰首次皮下纳塔珠单抗治疗经验的总结。
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引用次数: 0
Autoimmune encephalitis with anti-NMDAR antibodies – variety of clinical manifestations 具有抗nmdar抗体的自身免疫性脑炎-临床表现的多样性
Pub Date : 2023-01-01 DOI: 10.15557/an.2023.0005
Alicja Sierakowska, Mateusz Roszak, Beata Łabuz-Roszak
The aim of this study was to review the literature on the topic of diversity of clinical symptoms of autoimmune encephalitis with the presence of antibodies against N-methyl-D-aspartate receptors (anti-NMDAR antibodies), the diagnostic process, and treatment. The incidence of the disease is approximately 4% of all reported cases of encephalitis. Autoimmune encephalitis with anti-NMDAR antibodies manifests as a rapidly progressive encephalopathy of acute or subacute onset. It usually develops over a period of six weeks. To diagnose the disease, it is necessary to confirm a minimum of four out of six symptoms, such as behavioural or cognitive impairment, speech impairment, epileptic seizures, movement disorders, disturbances of consciousness, and autonomic dysfunction. The diagnostic process is aided by additional examinations including electroencephalography, cerebrospinal fluid examination, magnetic resonance imaging, and laboratory tests (e.g. determination of titre of antineuronal antibodies). It is not uncommon for symptoms to indicate the possibility of co-occurrence of several psychiatric conditions at the same time, leading to a delay in making a correct diagnosis. Moreover, it should be remembered that anti-NMDAR encephalitis often displays the characteristics of a paraneoplastic syndrome, and particularly often coexists with ovarian teratoma. Consequently, this option should be included in the diagnostic process. Autoimmune encephalitis with anti-NMDAR antibodies can manifest itself in many ways, often with multiple neurological and psychiatric symptoms. Quick diagnosis, as well as early targeted treatment, increase the chance of success of the therapeutic process.
本研究的目的是回顾有关自身免疫性脑炎与n -甲基- d -天冬氨酸受体抗体(抗nmdar抗体)存在的临床症状多样性、诊断过程和治疗的文献。该病的发病率约占所有脑炎报告病例的4%。具有抗nmdar抗体的自身免疫性脑炎表现为急性或亚急性发作的快速进展性脑病。它通常在六周内发展。要诊断该疾病,必须确认六种症状中的至少四种,如行为或认知障碍、语言障碍、癫痫发作、运动障碍、意识障碍和自主神经功能障碍。辅助诊断过程的还有其他检查,包括脑电图、脑脊液检查、磁共振成像和实验室检查(如测定抗神经元抗体滴度)。这是不罕见的症状表明可能同时出现几种精神疾病,导致延误作出正确的诊断。此外,应该记住,抗nmdar脑炎经常表现出副肿瘤综合征的特征,特别是经常与卵巢畸胎瘤共存。因此,这个选项应该包含在诊断过程中。具有抗nmdar抗体的自身免疫性脑炎可以多种方式表现出来,通常伴有多种神经和精神症状。快速诊断,以及早期的靶向治疗,增加了治疗过程成功的机会。
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引用次数: 0
Young-onset dementia – possible causes and effects on patients’ lives 早发性痴呆——可能的原因和对患者生活的影响
Pub Date : 2023-01-01 DOI: 10.15557/an.2023.0003
Klaudia Karina Leś, Julia Lipska, Julia Lewtak
For years, there has been an ongoing myth that dementia diseases affect only elderly people. However, in recent years, with the development of medicine and growing awareness of “new” diseases, more and more cases of the so-called “young-onset dementia”, also known as “early-onset dementia” or even “working-age dementia” have been described. The disease can lead to job loss, changes in relationships with loved ones, and the necessity of providing constant care. The story of a 19-year-old boy from China who has been recently diagnosed with Alzheimer’s disease (Jia et al., 2023) inspired us to find out more about that condition, as there are still gaps in knowledge about that topic and a lot to discover, especially among people outside the medical environment. Despite claims that most of the information about this condition so far comprises theories, and there is still extensive research to be done, the authors decided to gather the key data and summarise them in this narrative review, with a view to raising awareness about this growing problem and about the lack of correct diagnosis, help for the patients, and the effects this condition has on the daily life of young people.
多年来,人们一直认为痴呆症只会影响老年人。然而,近年来,随着医学的发展和对“新”疾病认识的提高,越来越多的所谓“早发性痴呆”,也被称为“早发性痴呆”甚至“工作年龄痴呆”的病例被描述。这种疾病会导致失业,改变与亲人的关系,并且需要持续的护理。一个来自中国的19岁男孩最近被诊断患有阿尔茨海默病(Jia et al., 2023)的故事激励我们去了解更多关于这种情况的信息,因为关于这个话题的知识仍然存在空白,还有很多需要发现,特别是在医疗环境之外的人群中。尽管声称迄今为止关于这种情况的大部分信息都是理论,还有大量的研究要做,但作者决定收集关键数据并在这篇叙述性综述中进行总结,以期提高人们对这一日益严重的问题的认识,以及对患者缺乏正确诊断和帮助,以及这种情况对年轻人日常生活的影响。
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引用次数: 0
Analysis of selected pro-inflammatory cytokines: IL-1β, IL-6, CXCL-8, and TNF-α in children with seizure disorders during acute infection. Is there a specific pro-inflammatory cytokine profile in these patients? 急性感染期癫痫患儿中IL-1β、IL-6、CXCL-8、TNF-α的促炎因子分析这些患者中是否存在特定的促炎细胞因子谱?
Pub Date : 2023-01-01 DOI: 10.15557/an.2023.0001
Grażyna Bugaj, Anna Mania, Magdalena Frydrychowicz, Agnieszka Górna, Karol Lubarski, Katarzyna Mazur-Melewska, Magdalena Figlerowicz
Introduction and objective: This study aimed to analyse the levels of selected pro-inflammatory cytokines in children with seizures during acute infection. Materials and methods: The study was conducted in the Department of Infectious Diseases and Child Neurology of the Poznan University of Medical Sciences from 19 January 2017 to 5 December 2020. Pro-inflammatory cytokines were measured in 64 patients with febrile seizures and 11 patients after an epileptic seizure in generalised epilepsy. The control group comprised 46 patients with delayed development. Serum pro-inflammatory cytokines were determined using the BioLegend’s ELISA MAX™ Deluxe Set. Pathogens were detected by standard diagnostic methods. Total white blood cell count, C-reactive protein and procalcitonin were determined using standard diagnostic methods. Results: Significantly higher levels of all analysed pro-inflammatory cytokines were found in patients with simple and simple plus febrile seizures; interleukin 6, CXCL-8 in those with complex febrile seizures; interleukin 6, CXCL-8, tumour necrosis factor α following epileptic seizure. The intensity of the inflammatory response in simple and simple plus febrile seizure patients corresponded to significantly higher levels of all pro-inflammatory cytokines and inflammatory markers. Pro-inflammatory profiles differed depending on the aetiology of the infection. Significantly higher levels interleukin 6, CXCL-8, tumour necrosis factor α were found in simple and simple plus febrile seizure patients infected with human herpesvirus-6 compared to the control group. Conclusions: In patients with febrile seizures and epileptic seizures, the involvement of interleukin 1β, interleukin 6, CXCL-8, and tumour necrosis factor α was confirmed in the inflammatory process, with a different distribution in the analysed groups. Pro-inflammatory cytokine profiles varied depending on the infectious aetiology.
简介和目的:本研究旨在分析急性感染期间癫痫发作儿童中选定的促炎细胞因子的水平。材料和方法:该研究于2017年1月19日至2020年12月5日在波兹南医科大学传染病和儿童神经内科进行。对64例发热性癫痫发作患者和11例全身性癫痫发作后患者的促炎性细胞因子进行了测定。对照组为46例发育迟缓患者。血清促炎细胞因子测定使用biolgend的ELISA MAX™豪华套装。采用标准诊断方法检测病原体。采用标准诊断方法测定白细胞总数、c反应蛋白和降钙素原。结果:单纯性和单纯性加热性惊厥患者的促炎因子水平均显著升高;白细胞介素6、CXCL-8与复杂热性惊厥的关系;白细胞介素6,CXCL-8,肿瘤坏死因子α。单纯性和单纯性加热性惊厥患者的炎症反应强度与所有促炎细胞因子和炎症标志物的水平显著升高相对应。促炎谱因感染的病因而异。感染人疱疹病毒-6的单纯性和单纯性合并发热性惊厥患者的白细胞介素6、CXCL-8、肿瘤坏死因子α水平均显著高于对照组。结论:在热性惊厥和癫痫性惊厥患者中,证实了白细胞介素1β、白细胞介素6、CXCL-8和肿瘤坏死因子α在炎症过程中的参与,且在分析组中分布不同。促炎细胞因子谱因感染病因而异。
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引用次数: 0
Dyke–Davidoff–Masson syndrome – a review of the literature Dyke-Davidoff-Masson综合征——文献综述
Pub Date : 2023-01-01 DOI: 10.15557/an.2023.0004
Piotr Jan Potyrała, Aleksandra Krawczuk, Jan Bieniasz, Igor Matkowski, Konrad Dendys, Paula Bigos, Wojciech Kuźnicki, Krzysztof Chmielak
Dyke–Davidoff–Mason syndrome is an extremely rare medical condition that results from brain damage occurring during foetal life or early childhood. The aetiology of the syndrome can be congenital or acquired. The clinical presentation of the syndrome is variable, and depends on the extent of damage to the central nervous system. It most commonly manifests as epileptic seizures, intellectual disability, and hemiparesis/hemiplegia, which is usually preceded by the first seizure. It is suspected that intellectual impairment is a consequence of epilepsy. The spectrum of symptoms also includes psychiatric conditions, particularly psychotic disorders and mood disorders. Radiological manifestations of the syndrome include midline cerebral shift, widening of the Sylvian fissure, hemispheric aplasia/hypoplasia of the brain, ipsilateral cranial bone thickening, lateral ventricle enlargement, as well as hyperpneumatisation of the frontal and sphenoid bones, and the mastoid process. Diagnosis is mainly based on imaging tests such as computed tomography and magnetic resonance imaging, as well as neurological examination and electroencephalography. During the patient’s history-taking, particular attention should be paid to pregnancy history and the childhood period in order to identify potential etiological factors. No characteristic changes in laboratory tests indicating Dyke–Davidoff–Mason syndrome have been found. Treatment is primarily symptomatic. The greatest challenge for physicians is the control of epileptic seizures. Conservative treatment is initially employed. If proven to be ineffective, surgical treatment should be considered.
戴克-大卫杜夫-梅森综合征是一种极其罕见的医学病症,由胎儿期或幼儿期发生的脑损伤引起。该综合征的病因可以是先天性的,也可以是后天的。该综合征的临床表现是多变的,取决于中枢神经系统损伤的程度。它最常见的表现为癫痫发作,智力残疾和偏瘫/偏瘫,通常在第一次发作之前。人们怀疑智力损害是癫痫的后果。症状谱还包括精神疾病,特别是精神障碍和情绪障碍。该综合征的影像学表现包括脑中线移位、脑侧裂增宽、脑半球发育不全/发育不全、同侧颅骨增厚、侧脑室增大、额骨、蝶骨和乳突过度充气。诊断主要基于影像学检查,如计算机断层扫描和磁共振成像,以及神经学检查和脑电图。在患者的病史记录中,应特别注意妊娠史和儿童期,以确定潜在的病因。实验室检查未发现Dyke-Davidoff-Mason综合征的特征性变化。治疗主要是对症治疗。对医生来说最大的挑战是控制癫痫发作。最初采用保守治疗。如果证实无效,则应考虑手术治疗。
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引用次数: 0
Immunotherapy in Alzheimer’s disease – new treatment, old problems 阿尔茨海默病的免疫疗法——新疗法,老问题
Pub Date : 2023-01-01 DOI: 10.15557/an.2023.0002
Anna Barczak
Alzheimer’s disease is one of the major challenges of modern medicine. Despite strenuous research and numerous clinical trials, no registered causal treatment exists in Europe; however, such pharmacotherapy is already available in the United States (aducanumab and lecanemab). Positive results of immunotherapy clinical trials in Alzheimer’s disease, both completed and still ongoing, give hope for finding safe substances that would effectively inhibit the development of Alzheimer’s disease (donanemab pending registration or remternetug in the research phase). Failures in the registration of medicines in Europe have their roots in the lack of noticeable therapeutic benefits and, despite everything, relatively serious adverse effects. The high cost of this therapy as well as the lack of trained personnel and easily accessible centres, where the drug could be administered and patient’s condition could be monitored using magnetic resonance imaging, is another problem. Early diagnosis of patients with Alzheimer’s disease before the onset of symptoms of dementia is an old, still unsolved challenge as immunotherapy is designed only for these patients. Widely applicable diagnostic criteria and guidelines have still not solved the problem of late diagnosis in most patients. A large body of evidence indicates that the efficacy of preventive measures and the control of risk factors can significantly reduce the number of patients. Creating an integrated system to adequately care for the rapidly growing number of patients is crucial. Unfortunately, access to specialist diagnostic centres and support networks for the broadly understood post-diagnosis care for patients and their carers is still a matter of the distant future.
阿尔茨海默病是现代医学的主要挑战之一。尽管进行了艰苦的研究和大量的临床试验,但在欧洲没有注册的因果治疗;然而,这种药物治疗在美国已经可用(aducanumab和lecanemab)。阿尔茨海默病免疫治疗临床试验的积极结果,无论是已经完成的还是正在进行的,都给人们带来了寻找有效抑制阿尔茨海默病发展的安全物质的希望(donanemab正在等待注册,remternetug正在研究阶段)。在欧洲,药品注册失败的根源在于缺乏明显的治疗益处,尽管如此,仍有相对严重的不良反应。另一个问题是,这种疗法的费用高昂,以及缺乏训练有素的人员和易于进入的中心,这些中心可以给药,并可以使用磁共振成像监测病人的病情。在痴呆症症状出现之前对阿尔茨海默病患者进行早期诊断是一个古老的、尚未解决的挑战,因为免疫疗法仅针对这些患者设计。广泛适用的诊断标准和指南仍未解决大多数患者的晚期诊断问题。大量证据表明,预防措施的有效性和对危险因素的控制可以显著减少患者人数。建立一个综合系统以充分照顾迅速增加的病人人数至关重要。不幸的是,进入专家诊断中心和支持网络,为患者及其护理人员提供广泛理解的诊断后护理,仍然是一个遥远的未来。
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Aktualności Neurologiczne
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