Journal of neuroscience and neurological surgery最新文献

{"title":"Clinical - genetic characteristics of neuronal ceroid lipofuscinosis type 2","authors":"Khachatryan L.G","doi":"10.31579/2578-8868/129","DOIUrl":"https://doi.org/10.31579/2578-8868/129","url":null,"abstract":"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.","PeriodicalId":73865,"journal":{"name":"Journal of neuroscience and neurological surgery","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47531994","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}

{"title":"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.","authors":"O.I. Lystratenko, AM Kardash, DO Lystratenko, VP Kardash","doi":"10.31579/2578-8868/140","DOIUrl":"https://doi.org/10.31579/2578-8868/140","url":null,"abstract":"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 ","PeriodicalId":73865,"journal":{"name":"Journal of neuroscience and neurological surgery","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42888345","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}

{"title":"Cervical manipulation and cerebrovascular ischemia. A rare but dangerous association. Monocentric experience in a high CEA volume center and literature review.","authors":"A. Marchetti, Oddi Fabio Massimo, M. Battistini, De Liso Alfredo, A. Testa, M. Pallocchi, A. Ippoliti","doi":"10.31579/2578-8868/125","DOIUrl":"https://doi.org/10.31579/2578-8868/125","url":null,"abstract":"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.","PeriodicalId":73865,"journal":{"name":"Journal of neuroscience and neurological surgery","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46027032","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}

{"title":"CORONA VIRUS / COVID19 Practical advice for people with Ehlers-Danlos (hereditary connective tissue or collagen disease)","authors":"C. Hamonet","doi":"10.31579/2578-8868/124","DOIUrl":"https://doi.org/10.31579/2578-8868/124","url":null,"abstract":"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.","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":"46113080","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}

{"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}

{"title":"Suicidal Risk: Definition, Contexts, Differential Diagnosis, Neural Correlates and Clinical Strategies","authors":"G. Perrotta","doi":"10.31579/2688-7517/114","DOIUrl":"https://doi.org/10.31579/2688-7517/114","url":null,"abstract":"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.","PeriodicalId":73865,"journal":{"name":"Journal of neuroscience and neurological surgery","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42602529","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}

{"title":"Syringomyelia: Report of a Clinical Case and Bibliographical Review.","authors":"M. Gabriel","doi":"10.31579/2578-8868/109","DOIUrl":"https://doi.org/10.31579/2578-8868/109","url":null,"abstract":"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.","PeriodicalId":73865,"journal":{"name":"Journal of neuroscience and neurological surgery","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43207623","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}

{"title":"Total resection of recurrent meningothelial meningioma through a combined transcranial.endonasal approach","authors":"Orestes Ramón López Piloto, Yurledys Jhohana Linares Benavides","doi":"10.31579/2578-8868/106","DOIUrl":"https://doi.org/10.31579/2578-8868/106","url":null,"abstract":"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.","PeriodicalId":73865,"journal":{"name":"Journal of neuroscience and neurological surgery","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42120310","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}

{"title":"Spinal Descompression Trhough a Tubular System with Assisted Endoscopy","authors":"C. Partida","doi":"10.31579/2578-8868/112","DOIUrl":"https://doi.org/10.31579/2578-8868/112","url":null,"abstract":"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).","PeriodicalId":73865,"journal":{"name":"Journal of neuroscience and neurological surgery","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46142539","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}

{"title":"Spinal Descompression Trhough a Tubular System with Assisted Endoscopy","authors":"Amal Alqassmi","doi":"10.31579/2578-8868/104","DOIUrl":"https://doi.org/10.31579/2578-8868/104","url":null,"abstract":"","PeriodicalId":73865,"journal":{"name":"Journal of neuroscience and neurological surgery","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44657923","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}