To leptospirosis is the commonest spirocheatal infection in the tropical and temperate countries of Indian sub-continent and Africa and the most common zoonosis worldwide.The protean manifestation of this infectious d...To leptospirosis is the commonest spirocheatal infection in the tropical and temperate countries of Indian sub-continent and Africa and the most common zoonosis worldwide.The protean manifestation of this infectious disease is a challenge for practising clinicians across the world. In poor developing countries,at most clinical suspicion it is essential in the diagnosis of this disease.In this report,we are able to document two uncommon manifestations of leptospirosis, namely Sweet’s syndrome and central nervous system vasculitis.展开更多
Extracellular vesicles,including exosomes and microvesicles,play a fundamental role in the activity of the nervous system,participating in signal transmission between neurons and providing the interaction of central n...Extracellular vesicles,including exosomes and microvesicles,play a fundamental role in the activity of the nervous system,participating in signal transmission between neurons and providing the interaction of central nervous system with all body systems.In many neurodegenerative diseases,neurons pack toxic substances into vesicles and release them into the extracellular space,which leads to the spread of misfolded neurotoxic proteins.The contents of neuron-derived extracellular vesicles may indicate pathological changes in the central nervous system,and the analysis of extracellular vesicle molecular content contributes to the development of non-invasive methods for the diagnosis of many central nervous system diseases.Extracellular vesicles of neuronal origin can be isolated from various biological fluids due to their ability to cross the blood-brain barrier.Today,the diagnostic potential of almost all toxic proteins involved in nervous system disease pathogenesis,specificallyα-synuclein,tau protein,superoxide dismutase 1,FUS,leucine-rich repeat kinase 2,as well as some synaptic proteins,has been well evidenced.Special attention is paid to extracellular RNAs mostly associated with extracellular vesicles,which are important in the onset and development of many neurodegenerative diseases.Depending on parental cell type,extracellular vesicles may have different therapeutic properties,including neuroprotective,regenerative,and anti-inflammatory.Due to nano size,biosafety,ability to cross the blood-brain barrier,possibility of targeted delivery and the lack of an immune response,extracellular vesicles are a promising vehicle for the delivery of therapeutic substances for the treatment of neurodegenerative diseases and drug delivery to the brain.This review describes modern approaches of diagnosis and treatment of central nervous system diseases using extracellular vesicles.展开更多
BACKGROUND Prenatal examination is an important measure for the screening and diagnosis of fetal malformations.AIM To investigate the accuracy of ultrasonography in the diagnosis of fetal central nervous system(CNS)ma...BACKGROUND Prenatal examination is an important measure for the screening and diagnosis of fetal malformations.AIM To investigate the accuracy of ultrasonography in the diagnosis of fetal central nervous system(CNS)malformations.METHODS One hundred and thirteen pregnant women suspected of having fetal CNS malformations were examined at our hospital from December 2018 to October 2020 using two-dimensional ultrasonography and three-dimensional ultrasonography,respectively.RESULTS According to the pathological results,there were 79 cases of CNS malformations and 34 cases of non-CNS malformations among the 113 pregnant women suspected of having fetal CNS malformation.Fifty-one cases of CNS malformation and 26 cases of non-CNS malformation were detected by two-dimensional ultrasonography,and 73 cases of CNS malformation and 30 cases of non-CNS malformation were detected by three-dimensional ultrasonography.The diagnostic sensitivity(92.41%)and accuracy(91.15%)of three-dimensional ultrasonography were higher than those of two-dimensional ultrasonography(64.56% and 68.14%,respectively)(P=0.000).The specificity of three-dimensional ultrasonography(88.24%)was higher than that of two-dimensional ultrasonography(76.47%);however,the difference was not significant(P=0.203).CONCLUSION Three-dimensional ultrasonography has high application value in the diagnosis of fetal CNS malformations.In addition,the image quality is clear,and the diagnostic sensitivity and accuracy are high.展开更多
BACKGROUND Central nervous system graft-vs-host disease(CNS-GVHD)is a rare cause of CNS disorders after allogeneic hematopoietic stem cell transplantation.Currently,establishing a diagnosis of CNS-GVHD is challenging ...BACKGROUND Central nervous system graft-vs-host disease(CNS-GVHD)is a rare cause of CNS disorders after allogeneic hematopoietic stem cell transplantation.Currently,establishing a diagnosis of CNS-GVHD is challenging because the diagnostic criteria and diagnostic methods are not well defined and many confounding factors need to be ruled out.CASE SUMMARY Here,we present two patients with CNS-GVHD.Both patients with a history of acute GVHD or chronic GVHD developed neurological symptoms that could not be explained by other causes,and had abnormal cerebrospinal fluid(CSF)studies as determined by CSF and blood immune biomarker examinations,suggestive of suspected CNS-GVHD.Due to the lack of specific magnetic resonance imaging abnormalities and the rapid clinical deterioration of the patients,we did not attempt to perform a brain biopsy,but prompted the initiation of empirical immunosuppressive therapy.In view of the rapid and favorable response to local and systematic immunosuppressive treatment and the aforementioned neurologic manifestations together with CSF abnormalities and other negative findings,a final diagnosis of CNS-GVHD was made.CONCLUSION CSF and blood immune biomarker examinations facilitated the diagnosis of CNSGVHD,which are particularly suitable for patients who are critically ill and require urgent treatment and for those who are unsuitable for invasive diagnostic procedures.展开更多
OBJECTIVE To analyze the clinical manifestations, neuroimaging and pathological characteristics of primary central nervous system lymphoma (PCNSL) with a normal immunity, and to explore the methods of treatment and ...OBJECTIVE To analyze the clinical manifestations, neuroimaging and pathological characteristics of primary central nervous system lymphoma (PCNSL) with a normal immunity, and to explore the methods of treatment and diagnosis. METHODS The clinical, laboratory, imaging data and pathological findings and therapeutic efficacy of 31 cases with pathologically proved PCNSL, during a period from July 1995 to June 2006, were analyzed retrospectively. The method of surgery, used in combination with chemotherapy and radiotherapy, was evaluated in 18 cases versus a simple surgical procedure used in 5. Among the total cases, a CHOP regimen was employed in 11 and Teniposide (VM26) plus Semustine (me-CCUN) was used in 7 cases. RESULTS PCNSL had a variety of clinical features, so that its misdiagnosis rate was high. The main clinical findings of PCNSL included intracranial hypertension and (focal) neurologic impairment. No positive result was found in the CSF cellular examination. All of the 31 cases were B-cell lymphoma. Twenty-four of the 31 cases were followed-up, with a follow-up period from 6 to 98 months. The median period of survival of the group who underwent surgery in combination with chemotherapy and radiotherapy was 20 months, while the group with simple surgical therapy was 10 months. CONCLUSION Specific clinical manifestations were usually absent in the patients with PCNSL, giving an uncertain preoperative diagnosis and a poor prognosis. Pathological examination is the only reliable method for a final diagnosis of the disease. The main objective of surgical therapy is to relieve the intracranial hypertension caused by the tumor. Recurrence may occur in a short period following the simple operation. Therefore combined therapy, i.e. surgery plus additional radiotherapy and chemotherapy, should be adopted. This is the key point for extending survival time and improving the quality of life.展开更多
Objective: The aim of this study was to investigate the clinical manifestations of primary central nervous system lymphoma (PCNSL) with non-immune deficiency and explore effective methods for its diagnosis and treatme...Objective: The aim of this study was to investigate the clinical manifestations of primary central nervous system lymphoma (PCNSL) with non-immune deficiency and explore effective methods for its diagnosis and treatment. Methods: The clinical, imaging and pathological data from 17 cases with PCNSL in our hospital from March 2006 to April 2009 were analyzed. The immunologic function test for all 17 cases was confirmed as normal. Four of them received stereotactie brain biopsy while the other patients were given full or partial resection. Fifteen of them were given both radiotherapy and chemotherapy after surgery. High-dose Methotrexate (HD-MTX) (2.0g/m2) was used via intravenous infusion once per week for three times. From week 4, patients began radiotherapy. Six cases with abnormal cerebrospinal fluid were given whole central nervous system radiotherapy, and 9 cases with normal cerebrospinal fluid were given only whole brain radiotherapy. Two of them were without any additional treatment after surgery. Sixteen of 17 cases were followed up for 9-48 months. Therapeutic efficacy, toxic and side effect were investigated. Results: Six cases, who were given HD-MTX chemotherapy and whole central nervous system radiotherapy, had grade 3 leukopenia, but other toxic and side effect above grade 3 were not observed. Two patients having no chemotherapy and radiotherapy recurred in one month, but there was only one recurred case in three months among 15 cases who had both chemotherapy and radiotherapy. One of them lost fellow-up. The 2-year survival rate was 69.2%. Conclusion: There is no specific clinical manifestation for PCNSL. The pathological examination is a reliable method to confirm PCNSL. Recurrence may occur after surgery alone, however, the combination of HD-MTX chemotherapy and radiotherapy is an effective and safe therapeutic option, which might improve the treatment efficiency and survival rate.展开更多
BACKGROUND An inflammatory myofibroblastic tumor(IMT)occurring in the central nervous system is very rare,and thus its pathogenesis is unknown.This case report and literature review aimed to explore the pathogenesis,c...BACKGROUND An inflammatory myofibroblastic tumor(IMT)occurring in the central nervous system is very rare,and thus its pathogenesis is unknown.This case report and literature review aimed to explore the pathogenesis,clinical features,imaging findings,pathological characteristics,immunohistochemical characteristics,diagnoses,treatments,and risks of postoperative recurrence of IMT in the central nervous system.CASE SUMMARY A 67-year-old woman was admitted to the hospital with an exophthalmic protrusion and double vision in the left eye that had persisted for 3 mo.Magnetic resonance imaging(MRI)showed a 2.4 cm×1.3 cm heterogeneous large mass in the bottom of the left anterior cranial fossa,which was closely related to the dura mater.Before surgery,we suspected the mass to be meningioma.The entire mass was successfully removed under neuronavigation and electrophysiological monitoring,and postoperative pathology indicated an IMT with extensive infiltration of chronic inflammatory cells and scattered multinucleated giant cells.Head MRI at the 3-mo follow-up showed that the tumor at the bottom of left anterior cranial fossa had been completely resected without recurrence.CONCLUSION From the histological,immunohistochemical,and genetic analyses,the present case suggests that the pathogenesis of IMT-CNS is related to autoimmunity.展开更多
BACKGROUND BCR-ABL1 fusion gene is associated with a poor prognosis and a high incidence in central nervous system(CNS)leukemia.CNS invasion which detected at the initial diagnosis is commonly with bone marrow infiltr...BACKGROUND BCR-ABL1 fusion gene is associated with a poor prognosis and a high incidence in central nervous system(CNS)leukemia.CNS invasion which detected at the initial diagnosis is commonly with bone marrow infiltration.It is uncommon for the leukemia cells to be located primarily in the CNS without bone marrow involvement.CASE SUMMARY We here report the rare initial presentation of CNS-restricted BCR-ABL-positive acute lymphoblastic leukemia in a 30-year-old female patient who clinically manifested with leukemic meningitis,with no involvement in peripheral blood or bone marrow.Identification of abnormal phenotypes of blast cells,and BCR-ABL1 rearrangement in the cerebrospinal fluid alone established the diagnosis of primary CNS-isolated acute lymphocytic leukemia.The patient received a combination of intrathecal therapy and high-dose chemotherapy.But the benefits of the treatments were short-lived and she experienced recurrence.CONCLUSION Flow cytometry in combination with molecular genetic analysis improved diagnostic accuracy.New approaches that may enhance the efficacy of the existing therapies and cure CNS leukemia are required.展开更多
Primary central nervous system lymphoma(PCNSL)is a rare group of extra-nodal non-Hodgkin lymphoma which is confined to the central nervous system or eyes.This article aims to present a brief profile of PCNSL diagnosis...Primary central nervous system lymphoma(PCNSL)is a rare group of extra-nodal non-Hodgkin lymphoma which is confined to the central nervous system or eyes.This article aims to present a brief profile of PCNSL diagnosis and treatment in immunocompetent patients.The authors retrieved information from the PubMed database up to September 2019.The annual incidence of PCNSL increased over the last four decades.The prognosis of PCNSL has improved mainly due to the introduction and wide-spread use of high-dose methotrexate,which is now the backbone of all first-line treatment polychemotherapy regimens.Gene expression profiling and next-generation sequencing analyses have revealed mutations that induce activation of nuclear factor-kB,B cell antigen receptor,and Janus kinases/signal transducer and activator of transcription proteins signal pathways.Some novel agents are investigated in the treatment of relapsed PCNSL including immunotherapy and targeted therapy.In particular,lenalidomide and ibrutinib have demonstrated durable efficiency.Treatment of PCNSL has evolved in the last 40 years and survival outcomes have improved in most patient groups,but there is still room to improve outcome by optimizing current chemotherapy and novel agents.展开更多
Background:To explore central nervous system(CNS)involvement in this disease,from the perspectives of diagnosis,treatment,and misdiagnosis Methods:Twenty-eight patients with CNS echinococcosis were included in this re...Background:To explore central nervous system(CNS)involvement in this disease,from the perspectives of diagnosis,treatment,and misdiagnosis Methods:Twenty-eight patients with CNS echinococcosis were included in this retrospective study,including 18 males(64.3%)and 10(35.7%)females.The average age of all the patients were 23.5 years(ranged 4–60 years).Twenty-three(23)patients(82.1%)received the first surgical resection in our hospital.Five(5)patients(17.9%)gave up surgical treatment for multiple-organ hydatidosis and previous surgery history at other hospitals,and albendazole was applied for a long-term(3–6 months)adjunct therapy for the 5 patients.The average follow-up time was 8 years.Results:For the 28 patients,23 cases received surgical treatments,and the diagnosis was confirmed by pathological examinations.The diagnosis of 4 cases of brain echinococcosis and 2 cases of spinal cord echinococcosis could not be confirmed,resulting in a misdiagnosis rate of 21.4%(6/28).For the pathological examination,a total of 17 cases were infected with Echinococcus granulosus(including 2 cases of spinal cord echinococcosis),and 6 cases were infected with Echinococcus alveolaris.Conclusion:The diagnosis should be specifically considered in endemic regions.The clinical features of CNS hydatidosis were intracranial space-occupying lesions.For the treatment,the surgical removal of cysts should be necessary.In addition,the adjuvant therapy with drug and intraoperative prophylaxis is also suggested.The misdiagnosis may have resulted from atypical clinical features and radiographic manifestations,as well as the accuracy of hydatid immunologic test.展开更多
目的:探讨中枢神经受累的系统性血管炎与结核性脑膜和(或)脑炎的头颅M R I的差别。方法:回顾性收集32例中枢神经系统血管炎,34例结核性脑膜和(或)脑炎。对比两组患者的M R I表现。结果:中枢神经系统血管炎顶叶病灶明显多于结核组(P<0...目的:探讨中枢神经受累的系统性血管炎与结核性脑膜和(或)脑炎的头颅M R I的差别。方法:回顾性收集32例中枢神经系统血管炎,34例结核性脑膜和(或)脑炎。对比两组患者的M R I表现。结果:中枢神经系统血管炎顶叶病灶明显多于结核组(P<0.05),其他病变部位无区别;中枢神经系统血管炎的病灶强化中的条索样强化多见于结核(P<0.05),其余病灶强化类型无区别;中枢神经系统血管炎的脑膜强化连续性的少于结核组,非连续性的强化多于结核组(P<0.01)。脑出血形式差异无显著性。结论:中枢神经系统性血管炎的病灶在顶叶较结核多见,病灶条索样增强较多见,脑膜强化多为非连续性的,通过上述表现可帮助鉴别两病。展开更多
Introduction: The central, psychiatric and peripheral neurological manifestations of lupus are among the most severe visceral disorders and are grouped under the general term of “neuro-psychiatric systemic lupus eryt...Introduction: The central, psychiatric and peripheral neurological manifestations of lupus are among the most severe visceral disorders and are grouped under the general term of “neuro-psychiatric systemic lupus erythematosus” (NPSLE). We conducted a cross-sectional observational study within our Department of Internal Medicine aimed at describing the clinical and evolutionary aspects of central neurological disorders of SLE, excluding lupus myelopathy. Patients and Methods: This was a retrospective and observational cross-sectional study carried out from 1 January 2015 to 31 October 2017, in the Department of Internal Medicine of Aristide le Dantec University Hospital in Dakar (Senegal). All patients hospitalized during this period who met the 1997 ACR classification criteria of SLE and who presented with a central neuropsychiatric syndrome attributable to SLE (as defined by ACR 1999) were included. Patients with isolated headache, acute myelitis or secondary neurological involvement attributable to a toxic, metabolic, infectious or tumour-related cause were excluded from our study. Results: During the study period, 10 patients with neuropsychiatric lupus involvement were treated at our institution, including 9 women and 1 man;the median age was 29 years (20 - 55 years). Neurological involvement occurred during the course of lupus evolution in 9/10 cases. The median time to SLE evolution was 18 months (0 - 60 months). Neuropsychiatric syndromes as defined by the 1999 ACR were commonly associated and more than half of our patients had multiple neuropsychiatric syndromes. There were 5 cases of confusion syndrome and coma, 4 cases of seizure, 3 cases of psychosis, 2 cases of acute cerebrovascular disease and 1 case of aseptic meningitis. Among the extra-neurological manifestations of SLE, haematological and dermatological involvements were common. Renal involvement affected half of the patients. The other manifestations were: polyarthritis in 3 patients, serositis in 2 patients, 5 cases of fever, 4 cases of deterioration of the general state, and one isolated case of ophthalmological involvement. Therapeutically, 8 patients received a bolus of methylprednisolone and 3 patients received a bolus of cyclophosphamide. Oral corticosteroids and hydroxychloroquine were administered to all patients, and azathioprine was administered in 2 patients. The evolution was favorable in 4 patients, other 2 patients maintained neurological sequelae and 2 patients were transferred to intensive care. Death was recorded in 4 patients. Conclusion: Neuropsychiatric manifestations of lupus are rare and sometimes severe, potentially life-threatening. In our patients, we have identified some of the most severe neurological syndromes according to the ACR nomenclature. The neurological involvement is exceptionally revealing, as these syndromes are often associated and integrated into a systemic context of lupus. The evolution is rapidly unfavorable and requires early diagnosis and optimal management.展开更多
Intraocular lymphoma (IOL) is a rare lymphocytic malignancy which contains two main distinct forms. Primary intraocular lymphoma (PIOL) is mainly a sub- type of primary central nervous system lymphoma (PCNSL). A...Intraocular lymphoma (IOL) is a rare lymphocytic malignancy which contains two main distinct forms. Primary intraocular lymphoma (PIOL) is mainly a sub- type of primary central nervous system lymphoma (PCNSL). Alternatively, IOL can originate from outside the central nervous system (CNS) by metastasizJng to the eye. These tumors are known as secondary intraocular lymphoma (SlOL). The IOL can arise in the retina, uvea, vitreous, Bruch's membrane and optic nerve. There are predominantly of B-cell origin; however there are also rare T-cell variants. Diagnosis remains challenging for ophthalmologists and pathologists, due to its ability to masquerade as noninfectious or infectious uveitis, white dot syndromes, or occasionally as other metastatic cancers. Laboratory tests include flow cytometry, immunocytochemistry, interleukin detection (IL-10: IL-6, ratio 〉1), and polymerase chain reaction (PER) amplification. Methotrexate-based systemic chemotherapy with external beam radiotherapy and intravitreal chemotherapy with methotrexate are useful for controlling the disease, but the prognosis remains poor. Therefore, it is important to make an early diagnose and treatment. This review is focused on the clinical manifestations, diagnosis, treatment and prognosis of the IOL.展开更多
Although intracranial hemorrhage in moyamoya disease can occur repeatedly,predicting the disease is difficult.Deep learning algorithms developed in recent years provide a new angle for identifying hidden risk factors,...Although intracranial hemorrhage in moyamoya disease can occur repeatedly,predicting the disease is difficult.Deep learning algorithms developed in recent years provide a new angle for identifying hidden risk factors,evaluating the weight of different factors,and quantitatively evaluating the risk of intracranial hemorrhage in moyamoya disease.To investigate whether convolutional neural network algorithms can be used to recognize moyamoya disease and predict hemorrhagic episodes,we retrospectively selected 460 adult unilateral hemispheres with moyamoya vasculopathy as positive samples for diagnosis modeling,including 418 hemispheres with moyamoya disease and 42 hemispheres with moyamoya syndromes.Another 500 hemispheres with normal vessel appearance were selected as negative samples.We used deep residual neural network(ResNet-152)algorithms to extract features from raw data obtained from digital subtraction angiography of the internal carotid artery,then trained and validated the model.The accuracy,sensitivity,and specificity of the model in identifying unilateral moyamoya vasculopathy were 97.64±0.87%,96.55±3.44%,and 98.29±0.98%,respectively.The area under the receiver operating characteristic curve was 0.990.We used a combined multi-view conventional neural network algorithm to integrate age,sex,and hemorrhagic factors with features of the digital subtraction angiography.The accuracy of the model in predicting unilateral hemorrhagic risk was 90.69±1.58%and the sensitivity and specificity were 94.12±2.75%and 89.86±3.64%,respectively.The deep learning algorithms we proposed were valuable and might assist in the automatic diagnosis of moyamoya disease and timely recognition of the risk for re-hemorrhage.This study was approved by the Institutional Review Board of Huashan Hospital,Fudan University,China(approved No.2014-278)on January 12,2015.展开更多
BACKGROUND Spinal dural arteriovenous fistula(SDAVF)is an extremely rare vascular malformation of the central nervous system that is often confused with degenerative spinal disorders due to similar early symptoms and ...BACKGROUND Spinal dural arteriovenous fistula(SDAVF)is an extremely rare vascular malformation of the central nervous system that is often confused with degenerative spinal disorders due to similar early symptoms and clinical features.Here,we report a case of SDAVF recurrence 8 years after lumbar spine surgery and summarize relevant literature.CASE SUMMARY A 54-year-old male was admitted to our hospital complaining of lower back pain,numbness in both lower extremities and intermittent claudication.Subsequent imaging identified lumbar spinal stenosis.Following surgical treatment,the patient’s symptoms significantly resolved,and he was able to perform daily activities.However,similar symptoms appeared 8 years later,followed by confirmation of SDAVF diagnosis.The patient underwent neurosurgery 7 mo after symptom onset.The follow-up period lasted 14 mo,and the patient remains with marginal neurological symptoms.CONCLUSION This case highlights the importance of prompt SDAVF diagnosis.Due to its nonspecific clinical presentation,the clinical experience of the surgeon and definitive imaging examination are indispensable.Additionally,timely neurosurgery is effective and may significantly improve patient outcomes.展开更多
Neurodegenerative diseases are a heterogeneous group of maladies, characterized by progressive loss of neurons. These diseases involve an intricate pattern of cross-talk between different types of cells to maintain sp...Neurodegenerative diseases are a heterogeneous group of maladies, characterized by progressive loss of neurons. These diseases involve an intricate pattern of cross-talk between different types of cells to maintain specific signaling pathways. A component of such intercellular cross-talk is the exchange of various types of extracellular vesicles (EVs). Exosomes are a subset of EVs, which are increasingly being known for the role they play in the pathogenesis and progression of neurodegenerative diseases, e.g., synucleinopathies and tauopathies. The ability of the central nervous system exosomes to cross the blood-brain barrier into blood has generated enthusiasm in their study as potential biomarkers. However, the lack of standardized, efficient, and ultra-sensitive methods for the isolation and detection of brain-derived exosomes has hampered the development of effective biomarkers. Exosomes mirror heterogeneous biological changes that occur during the progression of these incurable illnesses, potentially offering a more comprehensive outlook of neurodegenerative disease diagnosis, progression and treatment. In this review, we aim to discuss the challenges and opportunities of peripheral biofluid-based brain-exosomes in the diagnosis and biomarker discovery of Alzheimer’s and Parkinson’s diseases. In the later part, we discuss the traditional and emerging methods used for the isolation of exosomes and compare their advantages and disadvantages in clinical settings.展开更多
文摘To leptospirosis is the commonest spirocheatal infection in the tropical and temperate countries of Indian sub-continent and Africa and the most common zoonosis worldwide.The protean manifestation of this infectious disease is a challenge for practising clinicians across the world. In poor developing countries,at most clinical suspicion it is essential in the diagnosis of this disease.In this report,we are able to document two uncommon manifestations of leptospirosis, namely Sweet’s syndrome and central nervous system vasculitis.
基金financially supported by the Russian Government Program of Competitive Growth of Kazan Federal Universitysupported by state assignment 20.5175.2017/6.7 of the Ministry of Education and Science of Russian Federationthe President of the Russian Federation grant НШ-3076.2018.4
文摘Extracellular vesicles,including exosomes and microvesicles,play a fundamental role in the activity of the nervous system,participating in signal transmission between neurons and providing the interaction of central nervous system with all body systems.In many neurodegenerative diseases,neurons pack toxic substances into vesicles and release them into the extracellular space,which leads to the spread of misfolded neurotoxic proteins.The contents of neuron-derived extracellular vesicles may indicate pathological changes in the central nervous system,and the analysis of extracellular vesicle molecular content contributes to the development of non-invasive methods for the diagnosis of many central nervous system diseases.Extracellular vesicles of neuronal origin can be isolated from various biological fluids due to their ability to cross the blood-brain barrier.Today,the diagnostic potential of almost all toxic proteins involved in nervous system disease pathogenesis,specificallyα-synuclein,tau protein,superoxide dismutase 1,FUS,leucine-rich repeat kinase 2,as well as some synaptic proteins,has been well evidenced.Special attention is paid to extracellular RNAs mostly associated with extracellular vesicles,which are important in the onset and development of many neurodegenerative diseases.Depending on parental cell type,extracellular vesicles may have different therapeutic properties,including neuroprotective,regenerative,and anti-inflammatory.Due to nano size,biosafety,ability to cross the blood-brain barrier,possibility of targeted delivery and the lack of an immune response,extracellular vesicles are a promising vehicle for the delivery of therapeutic substances for the treatment of neurodegenerative diseases and drug delivery to the brain.This review describes modern approaches of diagnosis and treatment of central nervous system diseases using extracellular vesicles.
基金Supported by the Research Project on Application of Commonweal Technology in Anhui Province,No.1704f0804048.
文摘BACKGROUND Prenatal examination is an important measure for the screening and diagnosis of fetal malformations.AIM To investigate the accuracy of ultrasonography in the diagnosis of fetal central nervous system(CNS)malformations.METHODS One hundred and thirteen pregnant women suspected of having fetal CNS malformations were examined at our hospital from December 2018 to October 2020 using two-dimensional ultrasonography and three-dimensional ultrasonography,respectively.RESULTS According to the pathological results,there were 79 cases of CNS malformations and 34 cases of non-CNS malformations among the 113 pregnant women suspected of having fetal CNS malformation.Fifty-one cases of CNS malformation and 26 cases of non-CNS malformation were detected by two-dimensional ultrasonography,and 73 cases of CNS malformation and 30 cases of non-CNS malformation were detected by three-dimensional ultrasonography.The diagnostic sensitivity(92.41%)and accuracy(91.15%)of three-dimensional ultrasonography were higher than those of two-dimensional ultrasonography(64.56% and 68.14%,respectively)(P=0.000).The specificity of three-dimensional ultrasonography(88.24%)was higher than that of two-dimensional ultrasonography(76.47%);however,the difference was not significant(P=0.203).CONCLUSION Three-dimensional ultrasonography has high application value in the diagnosis of fetal CNS malformations.In addition,the image quality is clear,and the diagnostic sensitivity and accuracy are high.
基金Supported by National Natural Sciences Foundation of China,No.81970180 , 81800105Natural Science Foundation of Tianjin Municipal Science and Technology Commission,China,No.17JCZDJC35800and Tianjin Health and Family Planning Commission,China,No.16KG110.
文摘BACKGROUND Central nervous system graft-vs-host disease(CNS-GVHD)is a rare cause of CNS disorders after allogeneic hematopoietic stem cell transplantation.Currently,establishing a diagnosis of CNS-GVHD is challenging because the diagnostic criteria and diagnostic methods are not well defined and many confounding factors need to be ruled out.CASE SUMMARY Here,we present two patients with CNS-GVHD.Both patients with a history of acute GVHD or chronic GVHD developed neurological symptoms that could not be explained by other causes,and had abnormal cerebrospinal fluid(CSF)studies as determined by CSF and blood immune biomarker examinations,suggestive of suspected CNS-GVHD.Due to the lack of specific magnetic resonance imaging abnormalities and the rapid clinical deterioration of the patients,we did not attempt to perform a brain biopsy,but prompted the initiation of empirical immunosuppressive therapy.In view of the rapid and favorable response to local and systematic immunosuppressive treatment and the aforementioned neurologic manifestations together with CSF abnormalities and other negative findings,a final diagnosis of CNS-GVHD was made.CONCLUSION CSF and blood immune biomarker examinations facilitated the diagnosis of CNSGVHD,which are particularly suitable for patients who are critically ill and require urgent treatment and for those who are unsuitable for invasive diagnostic procedures.
文摘OBJECTIVE To analyze the clinical manifestations, neuroimaging and pathological characteristics of primary central nervous system lymphoma (PCNSL) with a normal immunity, and to explore the methods of treatment and diagnosis. METHODS The clinical, laboratory, imaging data and pathological findings and therapeutic efficacy of 31 cases with pathologically proved PCNSL, during a period from July 1995 to June 2006, were analyzed retrospectively. The method of surgery, used in combination with chemotherapy and radiotherapy, was evaluated in 18 cases versus a simple surgical procedure used in 5. Among the total cases, a CHOP regimen was employed in 11 and Teniposide (VM26) plus Semustine (me-CCUN) was used in 7 cases. RESULTS PCNSL had a variety of clinical features, so that its misdiagnosis rate was high. The main clinical findings of PCNSL included intracranial hypertension and (focal) neurologic impairment. No positive result was found in the CSF cellular examination. All of the 31 cases were B-cell lymphoma. Twenty-four of the 31 cases were followed-up, with a follow-up period from 6 to 98 months. The median period of survival of the group who underwent surgery in combination with chemotherapy and radiotherapy was 20 months, while the group with simple surgical therapy was 10 months. CONCLUSION Specific clinical manifestations were usually absent in the patients with PCNSL, giving an uncertain preoperative diagnosis and a poor prognosis. Pathological examination is the only reliable method for a final diagnosis of the disease. The main objective of surgical therapy is to relieve the intracranial hypertension caused by the tumor. Recurrence may occur in a short period following the simple operation. Therefore combined therapy, i.e. surgery plus additional radiotherapy and chemotherapy, should be adopted. This is the key point for extending survival time and improving the quality of life.
文摘Objective: The aim of this study was to investigate the clinical manifestations of primary central nervous system lymphoma (PCNSL) with non-immune deficiency and explore effective methods for its diagnosis and treatment. Methods: The clinical, imaging and pathological data from 17 cases with PCNSL in our hospital from March 2006 to April 2009 were analyzed. The immunologic function test for all 17 cases was confirmed as normal. Four of them received stereotactie brain biopsy while the other patients were given full or partial resection. Fifteen of them were given both radiotherapy and chemotherapy after surgery. High-dose Methotrexate (HD-MTX) (2.0g/m2) was used via intravenous infusion once per week for three times. From week 4, patients began radiotherapy. Six cases with abnormal cerebrospinal fluid were given whole central nervous system radiotherapy, and 9 cases with normal cerebrospinal fluid were given only whole brain radiotherapy. Two of them were without any additional treatment after surgery. Sixteen of 17 cases were followed up for 9-48 months. Therapeutic efficacy, toxic and side effect were investigated. Results: Six cases, who were given HD-MTX chemotherapy and whole central nervous system radiotherapy, had grade 3 leukopenia, but other toxic and side effect above grade 3 were not observed. Two patients having no chemotherapy and radiotherapy recurred in one month, but there was only one recurred case in three months among 15 cases who had both chemotherapy and radiotherapy. One of them lost fellow-up. The 2-year survival rate was 69.2%. Conclusion: There is no specific clinical manifestation for PCNSL. The pathological examination is a reliable method to confirm PCNSL. Recurrence may occur after surgery alone, however, the combination of HD-MTX chemotherapy and radiotherapy is an effective and safe therapeutic option, which might improve the treatment efficiency and survival rate.
文摘BACKGROUND An inflammatory myofibroblastic tumor(IMT)occurring in the central nervous system is very rare,and thus its pathogenesis is unknown.This case report and literature review aimed to explore the pathogenesis,clinical features,imaging findings,pathological characteristics,immunohistochemical characteristics,diagnoses,treatments,and risks of postoperative recurrence of IMT in the central nervous system.CASE SUMMARY A 67-year-old woman was admitted to the hospital with an exophthalmic protrusion and double vision in the left eye that had persisted for 3 mo.Magnetic resonance imaging(MRI)showed a 2.4 cm×1.3 cm heterogeneous large mass in the bottom of the left anterior cranial fossa,which was closely related to the dura mater.Before surgery,we suspected the mass to be meningioma.The entire mass was successfully removed under neuronavigation and electrophysiological monitoring,and postoperative pathology indicated an IMT with extensive infiltration of chronic inflammatory cells and scattered multinucleated giant cells.Head MRI at the 3-mo follow-up showed that the tumor at the bottom of left anterior cranial fossa had been completely resected without recurrence.CONCLUSION From the histological,immunohistochemical,and genetic analyses,the present case suggests that the pathogenesis of IMT-CNS is related to autoimmunity.
基金Supported by the Science and Technology Plan Guide Project of Fujian Province,No.2019D009.
文摘BACKGROUND BCR-ABL1 fusion gene is associated with a poor prognosis and a high incidence in central nervous system(CNS)leukemia.CNS invasion which detected at the initial diagnosis is commonly with bone marrow infiltration.It is uncommon for the leukemia cells to be located primarily in the CNS without bone marrow involvement.CASE SUMMARY We here report the rare initial presentation of CNS-restricted BCR-ABL-positive acute lymphoblastic leukemia in a 30-year-old female patient who clinically manifested with leukemic meningitis,with no involvement in peripheral blood or bone marrow.Identification of abnormal phenotypes of blast cells,and BCR-ABL1 rearrangement in the cerebrospinal fluid alone established the diagnosis of primary CNS-isolated acute lymphocytic leukemia.The patient received a combination of intrathecal therapy and high-dose chemotherapy.But the benefits of the treatments were short-lived and she experienced recurrence.CONCLUSION Flow cytometry in combination with molecular genetic analysis improved diagnostic accuracy.New approaches that may enhance the efficacy of the existing therapies and cure CNS leukemia are required.
文摘Primary central nervous system lymphoma(PCNSL)is a rare group of extra-nodal non-Hodgkin lymphoma which is confined to the central nervous system or eyes.This article aims to present a brief profile of PCNSL diagnosis and treatment in immunocompetent patients.The authors retrieved information from the PubMed database up to September 2019.The annual incidence of PCNSL increased over the last four decades.The prognosis of PCNSL has improved mainly due to the introduction and wide-spread use of high-dose methotrexate,which is now the backbone of all first-line treatment polychemotherapy regimens.Gene expression profiling and next-generation sequencing analyses have revealed mutations that induce activation of nuclear factor-kB,B cell antigen receptor,and Janus kinases/signal transducer and activator of transcription proteins signal pathways.Some novel agents are investigated in the treatment of relapsed PCNSL including immunotherapy and targeted therapy.In particular,lenalidomide and ibrutinib have demonstrated durable efficiency.Treatment of PCNSL has evolved in the last 40 years and survival outcomes have improved in most patient groups,but there is still room to improve outcome by optimizing current chemotherapy and novel agents.
文摘Background:To explore central nervous system(CNS)involvement in this disease,from the perspectives of diagnosis,treatment,and misdiagnosis Methods:Twenty-eight patients with CNS echinococcosis were included in this retrospective study,including 18 males(64.3%)and 10(35.7%)females.The average age of all the patients were 23.5 years(ranged 4–60 years).Twenty-three(23)patients(82.1%)received the first surgical resection in our hospital.Five(5)patients(17.9%)gave up surgical treatment for multiple-organ hydatidosis and previous surgery history at other hospitals,and albendazole was applied for a long-term(3–6 months)adjunct therapy for the 5 patients.The average follow-up time was 8 years.Results:For the 28 patients,23 cases received surgical treatments,and the diagnosis was confirmed by pathological examinations.The diagnosis of 4 cases of brain echinococcosis and 2 cases of spinal cord echinococcosis could not be confirmed,resulting in a misdiagnosis rate of 21.4%(6/28).For the pathological examination,a total of 17 cases were infected with Echinococcus granulosus(including 2 cases of spinal cord echinococcosis),and 6 cases were infected with Echinococcus alveolaris.Conclusion:The diagnosis should be specifically considered in endemic regions.The clinical features of CNS hydatidosis were intracranial space-occupying lesions.For the treatment,the surgical removal of cysts should be necessary.In addition,the adjuvant therapy with drug and intraoperative prophylaxis is also suggested.The misdiagnosis may have resulted from atypical clinical features and radiographic manifestations,as well as the accuracy of hydatid immunologic test.
文摘目的:探讨中枢神经受累的系统性血管炎与结核性脑膜和(或)脑炎的头颅M R I的差别。方法:回顾性收集32例中枢神经系统血管炎,34例结核性脑膜和(或)脑炎。对比两组患者的M R I表现。结果:中枢神经系统血管炎顶叶病灶明显多于结核组(P<0.05),其他病变部位无区别;中枢神经系统血管炎的病灶强化中的条索样强化多见于结核(P<0.05),其余病灶强化类型无区别;中枢神经系统血管炎的脑膜强化连续性的少于结核组,非连续性的强化多于结核组(P<0.01)。脑出血形式差异无显著性。结论:中枢神经系统性血管炎的病灶在顶叶较结核多见,病灶条索样增强较多见,脑膜强化多为非连续性的,通过上述表现可帮助鉴别两病。
文摘Introduction: The central, psychiatric and peripheral neurological manifestations of lupus are among the most severe visceral disorders and are grouped under the general term of “neuro-psychiatric systemic lupus erythematosus” (NPSLE). We conducted a cross-sectional observational study within our Department of Internal Medicine aimed at describing the clinical and evolutionary aspects of central neurological disorders of SLE, excluding lupus myelopathy. Patients and Methods: This was a retrospective and observational cross-sectional study carried out from 1 January 2015 to 31 October 2017, in the Department of Internal Medicine of Aristide le Dantec University Hospital in Dakar (Senegal). All patients hospitalized during this period who met the 1997 ACR classification criteria of SLE and who presented with a central neuropsychiatric syndrome attributable to SLE (as defined by ACR 1999) were included. Patients with isolated headache, acute myelitis or secondary neurological involvement attributable to a toxic, metabolic, infectious or tumour-related cause were excluded from our study. Results: During the study period, 10 patients with neuropsychiatric lupus involvement were treated at our institution, including 9 women and 1 man;the median age was 29 years (20 - 55 years). Neurological involvement occurred during the course of lupus evolution in 9/10 cases. The median time to SLE evolution was 18 months (0 - 60 months). Neuropsychiatric syndromes as defined by the 1999 ACR were commonly associated and more than half of our patients had multiple neuropsychiatric syndromes. There were 5 cases of confusion syndrome and coma, 4 cases of seizure, 3 cases of psychosis, 2 cases of acute cerebrovascular disease and 1 case of aseptic meningitis. Among the extra-neurological manifestations of SLE, haematological and dermatological involvements were common. Renal involvement affected half of the patients. The other manifestations were: polyarthritis in 3 patients, serositis in 2 patients, 5 cases of fever, 4 cases of deterioration of the general state, and one isolated case of ophthalmological involvement. Therapeutically, 8 patients received a bolus of methylprednisolone and 3 patients received a bolus of cyclophosphamide. Oral corticosteroids and hydroxychloroquine were administered to all patients, and azathioprine was administered in 2 patients. The evolution was favorable in 4 patients, other 2 patients maintained neurological sequelae and 2 patients were transferred to intensive care. Death was recorded in 4 patients. Conclusion: Neuropsychiatric manifestations of lupus are rare and sometimes severe, potentially life-threatening. In our patients, we have identified some of the most severe neurological syndromes according to the ACR nomenclature. The neurological involvement is exceptionally revealing, as these syndromes are often associated and integrated into a systemic context of lupus. The evolution is rapidly unfavorable and requires early diagnosis and optimal management.
基金Supported by the National Natural Science Foundation of China(No.30371515)
文摘Intraocular lymphoma (IOL) is a rare lymphocytic malignancy which contains two main distinct forms. Primary intraocular lymphoma (PIOL) is mainly a sub- type of primary central nervous system lymphoma (PCNSL). Alternatively, IOL can originate from outside the central nervous system (CNS) by metastasizJng to the eye. These tumors are known as secondary intraocular lymphoma (SlOL). The IOL can arise in the retina, uvea, vitreous, Bruch's membrane and optic nerve. There are predominantly of B-cell origin; however there are also rare T-cell variants. Diagnosis remains challenging for ophthalmologists and pathologists, due to its ability to masquerade as noninfectious or infectious uveitis, white dot syndromes, or occasionally as other metastatic cancers. Laboratory tests include flow cytometry, immunocytochemistry, interleukin detection (IL-10: IL-6, ratio 〉1), and polymerase chain reaction (PER) amplification. Methotrexate-based systemic chemotherapy with external beam radiotherapy and intravitreal chemotherapy with methotrexate are useful for controlling the disease, but the prognosis remains poor. Therefore, it is important to make an early diagnose and treatment. This review is focused on the clinical manifestations, diagnosis, treatment and prognosis of the IOL.
基金This study was supported by the National Natural Science Foundation of China,Nos.81801155(to YL),81771237(to YXG)the New Technology Projects of Shanghai Science and Technology Innovation Action Plan,China,No.18511102800(to YXG)+1 种基金the Shanghai Municipal Science and Technology Major Project and ZJLab,China,No.2018SHZDZX01(to YM)the Shanghai Health and Family Planning Commission,China,No.2017BR022(to YXG).
文摘Although intracranial hemorrhage in moyamoya disease can occur repeatedly,predicting the disease is difficult.Deep learning algorithms developed in recent years provide a new angle for identifying hidden risk factors,evaluating the weight of different factors,and quantitatively evaluating the risk of intracranial hemorrhage in moyamoya disease.To investigate whether convolutional neural network algorithms can be used to recognize moyamoya disease and predict hemorrhagic episodes,we retrospectively selected 460 adult unilateral hemispheres with moyamoya vasculopathy as positive samples for diagnosis modeling,including 418 hemispheres with moyamoya disease and 42 hemispheres with moyamoya syndromes.Another 500 hemispheres with normal vessel appearance were selected as negative samples.We used deep residual neural network(ResNet-152)algorithms to extract features from raw data obtained from digital subtraction angiography of the internal carotid artery,then trained and validated the model.The accuracy,sensitivity,and specificity of the model in identifying unilateral moyamoya vasculopathy were 97.64±0.87%,96.55±3.44%,and 98.29±0.98%,respectively.The area under the receiver operating characteristic curve was 0.990.We used a combined multi-view conventional neural network algorithm to integrate age,sex,and hemorrhagic factors with features of the digital subtraction angiography.The accuracy of the model in predicting unilateral hemorrhagic risk was 90.69±1.58%and the sensitivity and specificity were 94.12±2.75%and 89.86±3.64%,respectively.The deep learning algorithms we proposed were valuable and might assist in the automatic diagnosis of moyamoya disease and timely recognition of the risk for re-hemorrhage.This study was approved by the Institutional Review Board of Huashan Hospital,Fudan University,China(approved No.2014-278)on January 12,2015.
文摘BACKGROUND Spinal dural arteriovenous fistula(SDAVF)is an extremely rare vascular malformation of the central nervous system that is often confused with degenerative spinal disorders due to similar early symptoms and clinical features.Here,we report a case of SDAVF recurrence 8 years after lumbar spine surgery and summarize relevant literature.CASE SUMMARY A 54-year-old male was admitted to our hospital complaining of lower back pain,numbness in both lower extremities and intermittent claudication.Subsequent imaging identified lumbar spinal stenosis.Following surgical treatment,the patient’s symptoms significantly resolved,and he was able to perform daily activities.However,similar symptoms appeared 8 years later,followed by confirmation of SDAVF diagnosis.The patient underwent neurosurgery 7 mo after symptom onset.The follow-up period lasted 14 mo,and the patient remains with marginal neurological symptoms.CONCLUSION This case highlights the importance of prompt SDAVF diagnosis.Due to its nonspecific clinical presentation,the clinical experience of the surgeon and definitive imaging examination are indispensable.Additionally,timely neurosurgery is effective and may significantly improve patient outcomes.
文摘Neurodegenerative diseases are a heterogeneous group of maladies, characterized by progressive loss of neurons. These diseases involve an intricate pattern of cross-talk between different types of cells to maintain specific signaling pathways. A component of such intercellular cross-talk is the exchange of various types of extracellular vesicles (EVs). Exosomes are a subset of EVs, which are increasingly being known for the role they play in the pathogenesis and progression of neurodegenerative diseases, e.g., synucleinopathies and tauopathies. The ability of the central nervous system exosomes to cross the blood-brain barrier into blood has generated enthusiasm in their study as potential biomarkers. However, the lack of standardized, efficient, and ultra-sensitive methods for the isolation and detection of brain-derived exosomes has hampered the development of effective biomarkers. Exosomes mirror heterogeneous biological changes that occur during the progression of these incurable illnesses, potentially offering a more comprehensive outlook of neurodegenerative disease diagnosis, progression and treatment. In this review, we aim to discuss the challenges and opportunities of peripheral biofluid-based brain-exosomes in the diagnosis and biomarker discovery of Alzheimer’s and Parkinson’s diseases. In the later part, we discuss the traditional and emerging methods used for the isolation of exosomes and compare their advantages and disadvantages in clinical settings.