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Clinical - genetic characteristics of neuronal ceroid lipofuscinosis type 2 2型神经元蜡样脂褐质病的临床遗传学特征
Pub Date : 2020-09-07 DOI: 10.31579/2578-8868/129
Khachatryan L.G
The article is devoted to the issues of diagnosis and therapy of one of the most severe degenerative diseases in children - neuronal ceroid lipofuscinosis (NCL). This is a group of inherited neurodegenerative diseases related to lysosomal storage diseases characterized by regression of psychomotor development, resistant epileptic seizures, vision failure up to amaurosis. The morphological basis of NCL types is the accumulation of autofluorescence material in tissues (particularly in the brain), similar in structure to ceroids and lipofuscin, which are related to the “aging” and “wear-and-tear” pigments. To date, we know 14 variants of diseases associated with mutations in 13 genes (PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, KPUR, DNAJC5, CTSF, ATP13A2, CTD7).The most common and deeply studied types of NCL are types 1,2,3. According to scientific data, neuronal ceroid lipofuscinosis is the most common neurodegenerative disease associated with epilepsy and an early fatal outcome. The article demonstrates a unique family case with this disease, reports a discussion of issues related to preclinical diagnosis through genetic verification and suggests a necessity for etiopathogenetic therapy. Here we present two children, from one family, a brother and sister. At the time of diagnosis the sister already had a complete clinical picture of the disease and was genetically verified as having NCL type 2. This fact enabled to identify the same disease in her younger brother at preclinical level and to begin his pathogenetic therapy in time. Currently, the treatment of these patients is conducted with the expensive preparation of Cerliponase - alpha (brineura), which is a purified human enzyme obtained through recombinant DNA technology. Brineura is a recombinant human tripeptidyl peptidase-1 (rhTPP1), the main function of which is the cleavage of the N-terminal tripeptides of a wide range of protein substrates. With the example of this family, the dynamics of clinical manifestations in a child with NCL has been demonstrated in detail, and the algorithm of the medical action aimed at leveling off the serious neurological deficit has been shown.
本文致力于儿童最严重的退行性疾病之一——神经元类脂褐质病(NCL)的诊断和治疗问题。这是一组与溶酶体储存性疾病有关的遗传性神经退行性疾病,其特征是精神运动发育倒退、抵抗性癫痫发作、视力衰竭直至黑蒙。NCL类型的形态学基础是自发荧光物质在组织中(特别是在大脑中)的积累,其结构类似于与“衰老”和“磨损”色素有关的蜡质和脂褐素。到目前为止,我们已经知道14种与13个基因突变相关的疾病变体(PPT1、TPP1、CLN3、CLN5、CLN6、MFSD8、CLN8、KPUR、DNAJC5、CTSF、ATP13A2、CTD7)。最常见和深入研究的NCL类型是1、2、3型。根据科学数据,神经元蜡样脂褐质病是与癫痫相关的最常见的神经退行性疾病,也是早期致命的结果。这篇文章展示了一个独特的家族病例,报道了通过基因验证进行临床前诊断的相关问题的讨论,并提出了进行病因治疗的必要性。在这里,我们介绍两个孩子,来自一个家庭,一个兄弟姐妹。在诊断时,这位姐姐已经对这种疾病有了完整的临床了解,并被基因验证为患有2型NCL。这一事实使她能够在临床前水平上在弟弟身上发现同样的疾病,并及时开始他的病因治疗。目前,这些患者的治疗是用昂贵的Cerliponase-alpha(brineura)制剂进行的,这是一种通过重组DNA技术获得的纯化的人类酶。Brineura是一种重组人三肽基肽酶-1(rhTPP1),其主要功能是切割多种蛋白质底物的N端三肽。以该家族为例,详细展示了NCL儿童的临床表现动态,并展示了旨在消除严重神经系统缺陷的医疗行动算法。
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引用次数: 0
Clinical and Anatomical Rationale for the use of Fronto-Orbito-Zygomatic (foz) approach for the Surgical Treatment of Tumors of the Orbit and Cranioorbital Region. 应用额眶颧(foz)入路手术治疗眼眶及颅眶区肿瘤的临床及解剖学依据。
Pub Date : 2020-07-31 DOI: 10.31579/2578-8868/140
O.I. Lystratenko, AM Kardash, DO Lystratenko, VP Kardash
The article discusses and analyzes the results of the treatment of 56 patients with tumors of the orbit, cranioorbital region, operated at the neurosurgery clinic DCTMA in Donetsk from 2015 to February 2020, with various surgical approaches. Goals and objectives: coverage of clinical signs and symptoms, histology, diagnostic methods and treatment of patients operated on with tumors of the orbit and cranioorbital region for the period 2015-2020. The rationale for the use of front-orbit-zygomatic access as the optimal surgical access to tumors of the orbit and cranioorbital region of various localization, to perform radical organ-preserving surgery, with the maximum preservation of visual function, minimizing oculomotor disturbances, patient disability, good cosmetic effect in the postoperative period. Materials and methods: we analyzed the clinical cases of 56 patients who underwent treatment in DCTMA with tumors of the orbit, cranioorbital region for the period from 2015 to March 2020. Patients were operated on with different approaches - transcutaneous, subconjunctival, front-orbit-zygomatic, pterional, subfrontal. Surgical approaches were determined individually, depending on the location, size of the tumor, involvement in the process of the underlying structures of the orbit, adjacent anatomical areas (frontal, maxillary sinuses, cranial cavity, bones of the base of the skull). In 2 cases of lesions of the orbit by the tumor process a relapse of the tumor growth was obtained: one patient with aggressive adenocarcinoma, after 18 months, leading to orbital exenteration, and a 9-year-old child with rhabdomyosarcoma after non-radical removal of the tumor by subconjunctival approach. In all other cases, no relapses were noted; the operations were organ-preserving. Conclusions: the results of treatment of patients with orbital tumors directly depend on the radical removal of the neoplasm, which is associated with the choice of surgical approach, the use of chemo-, radiation therapy in the postoperative period, depending on the histological response. Advantages and versatility of FOZ - approach: ─ gives good visibility of all structures of the orbit, paraorbital regions, including the cranial region; ─ allows to perform organ-sparing operations to remove tumors of cranioorbital localization of any size; ─ provides radical removal of the neoplasm; ─ maximum preservation of vision function; ─ minimization of oculomotor disorders, patient disability; ─ good cosmetic effect. Indications for front-orbit-zygomatic access: ─ large formations of orbit (more than 2.5-3 cm in diameter), with diffuse growth in the capsule, including a metastatic one; ─ osteomas of the walls of the orbit, meningiomas with intracranial, intraorbital growth, fibrous dysplasia of the bones of the skull base, causing compression of blood vessels and nerves, functional disorders of the eye; ─ tumors of the apical part of the orbit, including the optic nerve. The disadvantages of the
本文讨论并分析了2015年至2020年2月在顿涅茨克DCTMA神经外科诊所使用各种手术方法治疗56例眼眶、颅眶区肿瘤的结果。目标和目的:涵盖2015-2020年期间眼眶和颅眶区肿瘤手术患者的临床体征和症状、组织学、诊断方法和治疗。使用前眶颧骨入路作为肿瘤的最佳手术入路的基本原理是对眼眶和颅眶区域的各种定位,进行根治性器官保留手术,最大限度地保留视觉功能,最大限度减少动眼障碍,患者残疾,术后美容效果好。材料和方法:我们分析了2015年至2020年3月期间接受DCTMA治疗的56例眼眶、颅眶区肿瘤患者的临床病例。患者采用不同的手术方式——经皮、结膜下、前眶颧骨、翼点、额下。根据肿瘤的位置、大小、参与眼眶底层结构的过程、相邻解剖区域(额骨、上颌窦、颅腔、颅底骨),分别确定手术入路。在2例肿瘤过程引起的眼眶病变中,肿瘤生长复发:1例患者为侵袭性腺癌,18个月后导致眼眶切除,1例9岁儿童为横纹肌肉瘤,经结膜下入路非根治性切除肿瘤。在所有其他病例中,均未发现复发;手术是保存器官。结论:眼眶肿瘤患者的治疗结果直接取决于肿瘤的彻底切除,这与手术方法的选择、术后化疗和放疗的使用有关,这取决于组织学反应。FOZ方法的优点和多功能性:─ 使眼眶、眶旁区域(包括颅骨区域)的所有结构具有良好的可视性;─ 允许进行器官保留手术以切除任何大小的颅眶定位肿瘤;─ 提供肿瘤的彻底切除;─ 最大限度地保留视觉功能;─ 尽量减少眼运动障碍、患者残疾;─ 美容效果好。眶前颧骨入路的适应症:─ 眼眶形成大(直径超过2.5-3厘米),包膜内弥漫性生长,包括转移性生长;─ 眶壁骨瘤,颅内、眶内生长的脑膜瘤,颅底骨纤维发育不良,导致血管和神经受压,眼睛功能紊乱;─ 眼眶顶端的肿瘤,包括视神经。该方法的缺点是眼科医生和外科医生的技术复杂性,以及神经外科医生的常规操作。在这方面,眼眶肿瘤的手术,即颅眶定位,取决于包括神经外科医生在内的相关专业医生的能力。
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引用次数: 0
Cervical manipulation and cerebrovascular ischemia. A rare but dangerous association. Monocentric experience in a high CEA volume center and literature review. 颈椎手法与脑血管缺血。这是一种罕见但危险的联想。高CEA容积中心的单中心经验及文献回顾。
Pub Date : 2020-07-14 DOI: 10.31579/2578-8868/125
A. Marchetti, Oddi Fabio Massimo, M. Battistini, De Liso Alfredo, A. Testa, M. Pallocchi, A. Ippoliti
Background: A correlation between stroke and cervical manipulation in the neck is reported in the literature with increasing frequency, and each new publication seems to rekindle the debate. The manipulations in the cervical region is potentially dangerous for arterial vessels. The aim of this work is to analyze the incidence of these events in the experience of a center with high volume surgery, in which emergency interventions are performed for acute cerebrovascular Ischemia. Methods: Data were collected regarding patients undergoing carotid endarterectomy surgery for neurological symptoms of cerebrovascular insufficiency over a seven-year period. Results: The intervention was conducted urgently in 66 cases for acute symptoms (7.6%) with a median symptom interval / CEA: 39.4 ± 5.4 h) in 32 cases for hemispheric transient ischemic attack, while in 34 for minor stroke. Only in 1 case (1.5%) did a condition of severe spondyloarthrosis of the cervical spine occur in acute carotid plaque in C4-C5. In another case (1.5%) a cervical trauma caused by beatings is documented. Conclusions: Manipulations of the neck and cervical spine can rarely cause or contribute to worsening neurological symptoms, however they should always be considered.
背景:文献中越来越多地报道了中风和颈部颈椎手法之间的相关性,每一篇新的出版物似乎都重新引发了争论。颈部的操作对动脉血管有潜在的危险。这项工作的目的是在一个大容量手术中心的经验中分析这些事件的发生率,在该中心对急性脑血管缺血进行紧急干预。方法:收集7年来因脑血管功能不全的神经症状而接受颈动脉内膜切除术的患者的数据。结果:对66例急性症状患者(7.6%)进行了紧急干预,32例半球短暂性脑缺血发作患者的中位症状间隔/CEA:39.4±5.4h,34例轻度脑卒中患者进行了干预。只有1例(1.5%)在C4-C5的急性颈动脉斑块中出现严重的颈椎关节病。在另一个案例(1.5%)中,记录了殴打造成的颈部创伤。结论:颈部和颈椎的操作很少会导致或导致神经系统症状恶化,但应始终予以考虑。
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引用次数: 0
CORONA VIRUS / COVID19 Practical advice for people with Ehlers-Danlos (hereditary connective tissue or collagen disease) 对埃勒-丹洛斯(遗传性结缔组织或胶原蛋白病)患者的实用建议
Pub Date : 2020-04-20 DOI: 10.31579/2578-8868/124
C. Hamonet
These recommendations relate to patients who, despite their number, are rarely diagnosed or after a painful and dangerous medical wandering of 20 years on average.
这些建议涉及的患者,尽管人数众多,但很少被诊断出来,或者经历了平均20年的痛苦和危险的医疗流浪。
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引用次数: 0
XLIF MISS literature Review XLIF MISS文献综述
Pub Date : 2020-04-20 DOI: 10.31579/2578-8868/117
C. Partida
The interest to decrease the complications and morbility in patients, encourage the investigation to search for minor invasvies surgical techniques. The medical responsability for the wellness of the patient adds to the actual advanced technologies that is the origin to propose more efficent interventions. An example is the XLIF (extreme laterla interbody fusion) represents one of the avant-gard techniques of spine surgery. The XLIF represents an excelent option for the treatment of some spine compelx pathologies that needs descompression, balance alignement, arthrodesis and stabilization: degenerative disc disease, spondylolisthesis grade l and ll, deformities like degenerative scoliosis or adjacent disc disease are examples where the benefit of this technicc is evident. The XLIF represents an excelent option for the treatment of some spine compelx pathologies that needs descompression, balance alignement, arthrodesis and stabilization: degenerative disc disease, spondylolisthesis grade l and ll, deformities like degenerative scoliosis or adjacent disc disease are examples where the benefit of this technicc is evident. However, this method is contraindicated for L5-S1 (limited by iliac crest) disc disease or spondylolisthesis grade lll for example.
为了减少并发症和患者的流动性,鼓励研究寻找微创手术技术。对病人健康的医疗责任增加了实际的先进技术,这是提出更有效干预措施的起源。一个例子是XLIF(极端外侧体间融合)代表了脊柱外科的前沿技术之一。XLIF是治疗一些需要减压、平衡对准、关节融合术和稳定的脊柱复杂病变的一个很好的选择:退行性椎间盘疾病、1级和1级脊柱滑脱、退行性脊柱侧凸或邻近椎间盘疾病等畸形是这种技术的明显益处的例子。XLIF是治疗一些需要减压、平衡对准、关节融合术和稳定的脊柱复杂病变的一个很好的选择:退行性椎间盘疾病、1级和1级脊柱滑脱、退行性脊柱侧凸或邻近椎间盘疾病等畸形是这种技术的明显益处的例子。然而,这种方法对于L5-S1(受髂嵴限制)椎间盘疾病或腰椎滑脱等级为ⅱ级的患者是禁忌的。
{"title":"XLIF MISS literature Review","authors":"C. Partida","doi":"10.31579/2578-8868/117","DOIUrl":"https://doi.org/10.31579/2578-8868/117","url":null,"abstract":"The interest to decrease the complications and morbility in patients, encourage the investigation to search for minor invasvies surgical techniques. The medical responsability for the wellness of the patient adds to the actual advanced technologies that is the origin to propose more efficent interventions. An example is the XLIF (extreme laterla interbody fusion) represents one of the avant-gard techniques of spine surgery. The XLIF represents an excelent option for the treatment of some spine compelx pathologies that needs descompression, balance alignement, arthrodesis and stabilization: degenerative disc disease, spondylolisthesis grade l and ll, deformities like degenerative scoliosis or adjacent disc disease are examples where the benefit of this technicc is evident. The XLIF represents an excelent option for the treatment of some spine compelx pathologies that needs descompression, balance alignement, arthrodesis and stabilization: degenerative disc disease, spondylolisthesis grade l and ll, deformities like degenerative scoliosis or adjacent disc disease are examples where the benefit of this technicc is evident. However, this method is contraindicated for L5-S1 (limited by iliac crest) disc disease or spondylolisthesis grade lll for example.","PeriodicalId":73865,"journal":{"name":"Journal of neuroscience and neurological surgery","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47163638","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
Suicidal Risk: Definition, Contexts, Differential Diagnosis, Neural Correlates and Clinical Strategies 自杀风险:定义、背景、鉴别诊断、神经关联及临床策略
Pub Date : 2020-02-17 DOI: 10.31579/2688-7517/114
G. Perrotta
Starting from the concept of suicidal risk, this work re-elaborates the main theories on the theme and related theme of mourning, proceeding with a complete examination of the possible differential diagnoses and of the neural correlates involved, up to the most suitable clinical strategies to avoid the event of death.
本文从自杀风险的概念出发,重新阐述了哀悼主题和相关主题的主要理论,并对可能的鉴别诊断和所涉及的神经相关因素进行了全面的研究,得出了避免死亡事件的最合适的临床策略。
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引用次数: 46
Syringomyelia: Report of a Clinical Case and Bibliographical Review. 脊髓空洞症:一例临床病例报告及文献复习。
Pub Date : 2020-01-30 DOI: 10.31579/2578-8868/109
M. Gabriel
Syringomyelia is a pathological involvement of the spinal cord, which consists of a central cavitation, which mainly affects the cervical area. In 90% of cases, it may be closely related to Chiari disease, however, there are other alterations such as intra or extramedullary tumor, trauma, hydrocephalus, among others that can cause syringomyelia as well. The diagnosis is completed with imaging studies (MRI). The treatment is usually surgical in most cases, as long as the patient is a candidate for it. However, there are other alternatives with promising results.
脊髓空洞症是一种脊髓病变,由中央空洞组成,主要影响颈部区域。在90%的病例中,它可能与Chiari病密切相关,然而,还有其他改变,如髓内或髓外肿瘤、创伤、脑积水等,也会导致脊髓空洞症。通过影像学研究(MRI)完成诊断。在大多数情况下,只要患者是治疗的候选者,这种治疗通常是外科手术。然而,也有其他有希望效果的替代方案。
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引用次数: 0
Total resection of recurrent meningothelial meningioma through a combined transcranial.endonasal approach 经颅-鼻内联合入路全切除复发性脑膜瘤
Pub Date : 2020-01-13 DOI: 10.31579/2578-8868/106
Orestes Ramón López Piloto, Yurledys Jhohana Linares Benavides
Objective: To evaluate the efficacy of combining an endonasal endoscopic approach and transcranial approach in a patient with a recurrent olfactory cleft meningothelial meningioma. Case report: A 57-years-old female caucasian patient was referred to our institution with a previous history hypertension and a right frontal craniotomy for a World Health Organization (WHO) grade I meningioma with 70% removal of the lesion. A second frontal craniotomy was performed with a 95% resection of the tumor. She received adjuvant treatment with Conformal Radiotherapy (30 sessions) and Nimotuzumab (33 doses). Seven months after was treated surgically for a bone flap osteomyelitis with removal of the bone flap. An endonasal endoscopic transcribiform approach was performed with a partial removal of the lesion. Few weeks after the patient started again with frontobasal soft tissue growing and frontal headache. CT and RMI scans showed regrowing of the tumor. A combined simultaneous endonasal endoscopic approach-transcraneal approach through bilateral frontal craniotomy was performed. There were not transoperative or postoperative complications. The hospital stay was 9 days. Conclusions: Olfactory groove meningiomas can extend into the paranasal sinuses. The cranial base and paranasal sinuses are the most common sites of tumor recurrence even after gross total resection. Radical tumor resection, by a combined endonasal and transcranial approach is the best way to reduce the chances of recurrence.
目的:评价鼻内窥镜入路和经颅入路联合治疗复发性嗅裂脑膜脑膜瘤的疗效。病例报告:一名57岁的白人女性患者被转诊到我们的机构,既往有高血压病史,并接受了世界卫生组织(世界卫生组织)I级脑膜瘤的右额开颅手术,切除了70%的病灶。进行了第二次额开颅手术,肿瘤切除率为95%。她接受了适形放射治疗(30次疗程)和尼莫单抗(33次剂量)的辅助治疗。七个月后,手术治疗骨瓣骨髓炎,切除骨瓣。采用鼻内窥镜经鼻内镜入路,部分切除病变。几周后,患者再次出现额叶软组织生长和额部头痛。CT和RMI扫描显示肿瘤再生。采用经鼻内镜联合入路经颅入路经双侧额开颅术。无术后或术后并发症。住院时间为9天。结论:嗅觉沟脑膜瘤可延伸至鼻窦。颅底和鼻窦是肿瘤复发最常见的部位,即使在全切除后也是如此。通过鼻内和经颅联合入路进行肿瘤根治性切除是减少复发机会的最佳方法。
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引用次数: 0
Spinal Descompression Trhough a Tubular System with Assisted Endoscopy 辅助内窥镜下经管系统的脊柱减压
Pub Date : 2020-01-02 DOI: 10.31579/2578-8868/112
C. Partida
Endoscopic surgery has become an important tool in spinal surgery, the ergonomic design and the required length of the instruments, as well as the use of video monitors greatly affect our perception and performance. Some experts are resistant to the use of the endoscope in spinal surgery, because of the limitations in the perceptual information and that this can lead us to commit incorrect actions during the surgical procedure. Since the introduction in 1997 by Smith and Foley of a system consisting of progressive tubular dilators (MED) to later place an endoscopic vision system, the technique has become increasingly popular to this day. Based on this, other authors have documented the use of this endoscopic tubular system called Easy-Go reporting good results, so the authors of this article focus on the intraoperative peculiarities, experience, first impressions and the technical note of this system. (EASY-GO).
内窥镜手术已成为脊柱外科的重要工具,符合人体工程学的设计和所需长度的器械,以及视频监视器的使用,极大地影响了我们的感知和性能。一些专家反对在脊柱手术中使用内窥镜,因为感知信息的局限性,这可能导致我们在手术过程中采取错误的行动。自从Smith和Foley在1997年引入了一种由渐进式管状扩张器(MED)组成的系统来放置内窥镜视觉系统以来,该技术一直越来越受欢迎。基于此,其他作者已经记录了这种名为Easy Go的内窥镜管状系统的使用,报告了良好的结果,因此本文作者重点介绍了该系统的术中特点、经验、第一印象和技术要点。(随和)。
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引用次数: 0
Spinal Descompression Trhough a Tubular System with Assisted Endoscopy 辅助内窥镜下经管系统的脊柱减压
Pub Date : 2020-01-02 DOI: 10.31579/2578-8868/104
Amal Alqassmi
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引用次数: 0
期刊
Journal of neuroscience and neurological surgery
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