Objective Intracranial hemangiopericytomas (HPCs) were rare neoplasms with relatively high rates of recurrence and extracranial metastasis.The differential diagnoses from angiomatous meningiomas and solitary fibrous t...Objective Intracranial hemangiopericytomas (HPCs) were rare neoplasms with relatively high rates of recurrence and extracranial metastasis.The differential diagnoses from angiomatous meningiomas and solitary fibrous tumors(SFTs) are very important. This study aimes to reveal differences in the specific immunohistochemical features of HPCs,angiomatous meningiomas and SFTs by newly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
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
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
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
目的探讨视频脑电图(VEEG)监测对小儿中枢神经系统感染性疾病鉴别诊断价值及对患儿预后的预测价值。方法选取2020年5月至2021年5月新疆医科大学第一附属医院收治的92例疑似中枢神经系统感染患儿为研究对象,患儿入院后均接受临床病理学...目的探讨视频脑电图(VEEG)监测对小儿中枢神经系统感染性疾病鉴别诊断价值及对患儿预后的预测价值。方法选取2020年5月至2021年5月新疆医科大学第一附属医院收治的92例疑似中枢神经系统感染患儿为研究对象,患儿入院后均接受临床病理学诊断、24 h VEEG监测。以临床病理学诊断结果为金标准,采用Kappa分析法评估VEEG监测结果与临床病理学诊断结果的一致性。根据临床病理诊断结果将患儿分为感染组、未感染组,比较两组患儿VEEG差异。对感染组VEEG异常患儿进行6个月的跟踪随访,根据认知功能评价、后遗症发生情况将患儿分为预后良好组、预后不良组,绘制受试者工作特征(ROC)曲线评估VEEG监测对小儿中枢神经系统感染性疾病的诊断价值,采用线性趋势检验法评估VEEG异常程度对患儿预后的预测价值。结果在92例疑似中枢神经系统感染患儿中,经临床病理学诊断,62例确诊中枢神经系统感染性疾病,其中病毒脑膜炎15例、化脓性脑膜炎24例、脑微循环障碍23例;经VEEG监测,60例确诊中枢神经系统感染性疾病,VEEG监测结果与临床病理学诊断结果的一致性良好(Kappa=0.951,P<0.001)。感染组患儿VEEG监测结果均显示异常,其中轻度异常占43.55%(27/62),中度异常占35.48%(22/62),重度异常占20.97%(13/62),未感染组患儿仅2例出现脑电图轻度异常,占6.67%(2/30),感染组VEEG监测结果异常占比明显高于未感染组(χ^(2)=83.183,P<0.001)。根据临床脑电图进行诊断,结果显示,以δ波广泛持续增多为主的VEEG重度异常患儿均表现为病毒性脑炎,以背景波形变慢为主的VEEG轻度异常、以广泛持续δ波为主的VEEG重度异常患者表现为病毒性脑炎、化脓性脑膜炎或脑微循环障碍,上述三种疾病VEEG改变缺乏特异性。随访6个月,感染组VEEG轻度异常、中度异常、重度异常患儿预后不良发生率分别为22.22%(6/27)、59.09%(13/22)、76.92%(10/13),线性趋势检验结果显示,感染组VEEG异常程度越严重,患儿预后越差(χ^(2)=-12.624,P=0.002)。ROC曲线结果显示,VEEG监测预测小儿中枢神经系统感染性疾病的灵敏度为90.77%,特异度为69.15%,阳性预测值为100.00%,阴性预测值为93.75%,ROC曲线下面积为0.801。结论VEEG监测诊断小儿中枢神经系统感染性疾病的阳性率较高,可为小儿中枢神经系统感染性疾病鉴别、预后评估提供可靠的依据。展开更多
Circular RNAs(circRNAs)are a class of regulatory non-coding RNAs characterized by the presence of covalently closed ends.A growing body of evidence suggests that circRNAs play important roles in physiology and patholo...Circular RNAs(circRNAs)are a class of regulatory non-coding RNAs characterized by the presence of covalently closed ends.A growing body of evidence suggests that circRNAs play important roles in physiology and pathology.In particular,accumulating data on circRNA functions in various central nervous system(CNS)diseases and their correlations indicate that circRNAs are critical contributors to the onset and development of brain disorders.In this review,we focus on the regulatory and functional roles of circRNAs in CNS diseases,highlighting their diagnostic and therapeutic potential,with the aim of providing new insights into CNS diseases.展开更多
文摘Objective Intracranial hemangiopericytomas (HPCs) were rare neoplasms with relatively high rates of recurrence and extracranial metastasis.The differential diagnoses from angiomatous meningiomas and solitary fibrous tumors(SFTs) are very important. This study aimes to reveal differences in the specific immunohistochemical features of HPCs,angiomatous meningiomas and SFTs by newly
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.
文摘目的探讨视频脑电图(VEEG)监测对小儿中枢神经系统感染性疾病鉴别诊断价值及对患儿预后的预测价值。方法选取2020年5月至2021年5月新疆医科大学第一附属医院收治的92例疑似中枢神经系统感染患儿为研究对象,患儿入院后均接受临床病理学诊断、24 h VEEG监测。以临床病理学诊断结果为金标准,采用Kappa分析法评估VEEG监测结果与临床病理学诊断结果的一致性。根据临床病理诊断结果将患儿分为感染组、未感染组,比较两组患儿VEEG差异。对感染组VEEG异常患儿进行6个月的跟踪随访,根据认知功能评价、后遗症发生情况将患儿分为预后良好组、预后不良组,绘制受试者工作特征(ROC)曲线评估VEEG监测对小儿中枢神经系统感染性疾病的诊断价值,采用线性趋势检验法评估VEEG异常程度对患儿预后的预测价值。结果在92例疑似中枢神经系统感染患儿中,经临床病理学诊断,62例确诊中枢神经系统感染性疾病,其中病毒脑膜炎15例、化脓性脑膜炎24例、脑微循环障碍23例;经VEEG监测,60例确诊中枢神经系统感染性疾病,VEEG监测结果与临床病理学诊断结果的一致性良好(Kappa=0.951,P<0.001)。感染组患儿VEEG监测结果均显示异常,其中轻度异常占43.55%(27/62),中度异常占35.48%(22/62),重度异常占20.97%(13/62),未感染组患儿仅2例出现脑电图轻度异常,占6.67%(2/30),感染组VEEG监测结果异常占比明显高于未感染组(χ^(2)=83.183,P<0.001)。根据临床脑电图进行诊断,结果显示,以δ波广泛持续增多为主的VEEG重度异常患儿均表现为病毒性脑炎,以背景波形变慢为主的VEEG轻度异常、以广泛持续δ波为主的VEEG重度异常患者表现为病毒性脑炎、化脓性脑膜炎或脑微循环障碍,上述三种疾病VEEG改变缺乏特异性。随访6个月,感染组VEEG轻度异常、中度异常、重度异常患儿预后不良发生率分别为22.22%(6/27)、59.09%(13/22)、76.92%(10/13),线性趋势检验结果显示,感染组VEEG异常程度越严重,患儿预后越差(χ^(2)=-12.624,P=0.002)。ROC曲线结果显示,VEEG监测预测小儿中枢神经系统感染性疾病的灵敏度为90.77%,特异度为69.15%,阳性预测值为100.00%,阴性预测值为93.75%,ROC曲线下面积为0.801。结论VEEG监测诊断小儿中枢神经系统感染性疾病的阳性率较高,可为小儿中枢神经系统感染性疾病鉴别、预后评估提供可靠的依据。
基金supported by grants from the Science and Technology Innovation 2030-Major Project of the Ministry of Science and Technology of China(No.2021ZD0202904 and No.2021ZD0202900)the National Natural Science Foundation of China(No.82230115 and No.82273914)+1 种基金the National Science Fund for Distinguished Young Scholars(No.82025033)the Jiangsu Provincial Key Laboratory of Critical Care Medicine(No.JSKLCCM-2022-02-008).
文摘Circular RNAs(circRNAs)are a class of regulatory non-coding RNAs characterized by the presence of covalently closed ends.A growing body of evidence suggests that circRNAs play important roles in physiology and pathology.In particular,accumulating data on circRNA functions in various central nervous system(CNS)diseases and their correlations indicate that circRNAs are critical contributors to the onset and development of brain disorders.In this review,we focus on the regulatory and functional roles of circRNAs in CNS diseases,highlighting their diagnostic and therapeutic potential,with the aim of providing new insights into CNS diseases.