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Objective:To investigate the clinical manifestations, imaging features and prognosis of posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI).Methods:The clinical data of 1 patient with PRES-SCI admitted to the Department of Neurology of the First Affiliated Hospital of Zhengzhou University in November 2021 were analyzed, and the data of 38 patients with PRES-SCI reported in domestic and foreign databases and this patient were collected for pooled analysis.Results:The main clinical manifestations of 39 PRES-SCI patients (including this patient) included headache (79.5%, 31/39), visual disturbance (79.5%, 31/39), vomiting (46.2%, 18/39), disturbance of consciousness (38.5%, 15/39), limb weakness (28.2%, 11/39) and seizure (23.1%, 9/39). There were up to 97.4% (38/39) of patients who had significantly elevated blood pressure. The imaging feature was long-segment spinal cord lesion involving central gray matter. Approximately 89.7% (35/39) of the spinal cord lesions originated from the junction of the medulla oblongata and the cervical spinal cord. The median number of abnormal spinal cord segments corresponding to the vertebral body was 9 (the shortest was 4 and the longest was the entire spinal cord). Thirty-eight patients had brain lesions, and the most frequently involved sites were medulla oblongata (82.1%, 32/39), occipital lobe (46.2%, 18/39), pons (43.6%, 17/39), parietal lobe (41.0%, 16/39), and cerebellum (38.5%, 15/39). Among 38 patients completing the follow-up, 31 patients (81.6%) were clinically recovered.Conclusions:Posterior reversible encephalopathy syndrome could involve the spinal cord. For patients with long-segment spinal cord lesions and significantly increased blood pressure or other risk factors, PRES-SCI should be considered. Timely identification and treatment could make most patients recovery.
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Objective:To identify the morphological alterations in the Golgi apparatus of skin fibroblasts in spinocerebellar ataxia type 3 (SCA3) patients.Methods:In this study, 3 SCA3 patients and 3 healthy volunteers were obtained in the First Affiliated Hospital of Zhengzhou University from 2016 to 2020. The cytosine, adenine, and guanine repeats of 3 SCA3 patients were 14/76, 20/80 and 21/82, respectively. Tissue mass culture was used to amplify skin fibroblasts derived from SCA3 patients and healthy volunteers. Cell viability and apoptosis were detected using cell counting kit-8 assay and flow cytometry, respectively. Western blotting and immunofluorescence assay were used to detect the protein expression of ataxin-3, Golgi reassembly stacking protein 2 (GORASP2), and Golgi matrix protein 130 (GM130) in the skin fibroblasts. The morphology of the Golgi apparatus in skin fibroblasts was detected using transmission electron microscopy.Results:Tissue culture of skin fibroblasts of both SCA3 patients and healthy volunteers was successfully established. The patient-derived dermal fibroblasts expressing mutant ataxin-3 protein exhibited reduced cell viability ( t=5.06,P=0.007), increased apoptosis ( t=3.77, P=0.020), fragmentation of the Golgi apparatus, increased expression of GM130 ( t=5.23, P=0.006), and decreased expression of GORASP2 ( t=4.35, P=0.012). Transmission electron microscopy revealed that the Golgi apparatus was disorganized in skin fibroblasts. Conclusion:Fragmentation of the Golgi apparatus occurs in the skin fibroblasts of SCA3 patients, and abnormal morphology and structure of the Golgi apparatus may be involved in the pathogenesis of SCA3.
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Objective:To report the clinical, electrophysiological and genetic features in a Chinese family with distal hereditary motor neuropathy type V (dHMN-V) and screen the pathogenic mutant gene.Methods:A family with the history of inherited peripheral neuropathy was recruited in the First Affiliated Hospital of Zhengzhou University in July 2017. The clinical features and electrophysiological data were investigated. Genetic testing on well-established genes associated with hereditary peripheral neuropathy was conducted by targeted high throughput sequencing and the candidate variant was screened in the family and normal controls.Results:There were four affected individuals in the family. The proband, a 25-year-old male, was characterized by weakness and atrophy in the distal extremities primarily affected the upper extremities without sensory impairment. Electrophysiological study showed chronic neurogenic pattern in the upper and lower limb muscles. The motor conduction showed reduced velocity and compound muscle action potential amplitude, while the sensory conduction studies results were normal. The grandfather, a maternal uncle and a cousin of the proband exhibited similar clinical manifestations and electrophysiological abnormality. Genetic testing revealed a heterozygous mutation, c.880G>A(p.G294R), in the GARS gene in the proband. Proband′s mother and two other affected individuals carried the mutation which was confirmed by Sanger sequencing. The mutation site was not found in the unaffected members from the family and 300 unrelated normal controls. The variant is a novel mutation which has not been reported in dbSNP, ExAC and 1000 Genomes Project databases. Conclusion:The results suggest that the novel c.880G>A(p.G294R) mutation of the GARS gene is responsible for the Chinese patients with dHMN-V, and the findings broaden the mutational spectrum of GARS gene.
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Objective:To detect the expression level of RAB39B gene and the effect of RAB39B on autophagy and α-synuclein, and then investigate the role of RAB39B gene mutation c.536dupA in the pathogenesis of Parkinson′s disease.Methods:Based on the novel RAB39B gene c.536 dupamutation identified in the previous work, the recombinant expression plasmid (pcDNA3.1-HA-RAB39B-536) of RAB39B gene with this mutation and wild-type recombinant expression plasmid (pcDNA3.1-HA-RAB39B) of RAB39B gene were constructed, and the recombinant expression plasmid was transfected into N2a cells with liposome as experimental group. The control group was made up with N2a cells transfected with plasmid pcDNA3.1-HA-RAB39B. Real-time polymerase chain reaction, Western blotting, immunofluorescence and immunoprecipitation techniques were used to detect the expression level of mutant RAB39B gene and the effects of RAB39B on autophagy and α-synuclein.Results:In the N2a cell model, the transcription level of mutant RAB39B was about twice that of wild type RAB39B, while the protein level of mutant RAB39B (0.30±0.00) was significantly lower than that of wild type (1.50±0.25, t=8.313, P<0.05). After adding proteasome inhibitor MG132, the protein level of mutant RAB39B increased (0.70±0.10, t=6.925, P<0.05); the level of microtubule-associated protein 1 light chain 3 BⅡ/Ⅰ of mutant RAB39B (3.11±0.30) was significantly lower than that of wild type (7.03±0.20, t=18.831, P<0.05); overexpression of wild type and mutant RAB39B did not affect the level of endogenous α-synuclein; overexpression of wild-type RAB39B resulted in elevated level of exogenous wild-type (p.A53T; from 0.60±0.11 to 1.25±0.08, t=8.254, P<0.05) and mutant (from 0.55±0.08 to 1.15±0.08, t=9.293, P<0.05) α-synuclein. Conclusions:The stability of the RAB39B protein decreased with the appearance of c.536 dupA mutation, the mutant protein may be degraded through the ubiquitin-proteasome pathway, and this mutation may affect the autophagy level of cells. RAB39B protein may interact with α-synuclein in vivo and may be involved in the maintenance of the stable level of α-synuclein.
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Objective:To investigate the characteristics of phosphorylated α-synuclein (p-α-syn) deposition in skin nerve fibers and its potential as a peripheral biomarker for Parkinson′s disease (PD).Methods:Fifteen PD patients and 31 age-matched healthy controls were evaluated by Small-Fiber Neuropathy and Symptoms Inventory Questionnaire (SFN-SIQ), who were recruited in the Department of Neurology, the First Affiliated Hospital of Zhengzhou University from June 1, 2017 to August 31, 2018. PD patients were divided into two subgroups according to the main clinical manifestations: bradykinesia ( n=7) and resting tremor ( n=8), and the severity of the disease was evaluated by Honhn-Yahr classification, where 0 to 2.5 indicates early stage ( n=11) and 3.0 to 5.0 indicates middle to late stage ( n=4). Three-millimeter punch biopsies were taken from cervical seven paravertebral area and distal leg of PD patients, while the skin of the distal leg of healthy control group was only taken, followed by immunohistochemistry and double immunofluorescence staining. The intraepidermal nerve fiber density (IENFD) and the deposition characteristics of p-α-syn were studied. Results:P-α-syn immuosignals were observed in 12/15 PD patients while in none of the control subjects, distributed in shape of dots or thread in the subepithelial plexus, dermis nerve tracts, and/or in the nerve fibers innervating sweat gland, muscle arrector pilorum, small blood vessels or hair follicle. The positive rate of p-α-syn deposition in a single site was 6/15 of the distal leg, 7/15 of the cervical, and the total positive rate was 12/15. The IENFD of PD group was 6.85±1.94/mm, which was significantly lower than that of control group (10.45±3.70/mm, t=-3.303, P=0.002), and was negatively correlated with the SFN-SIQ ( r=-0.561, P=0.046). There was no statistically significant difference in the positive rate of p-α-syn deposition and IENFD between patients with tremor and bradykinesia, nor between patients at stage of Hoehn-Yahr 0-2.5 and 3.0-5.0. Conclusions:Cutaneous p-α-syn deposits in the nerve fibers of PD patients, with a significant decrease in IENFD. P-α-syn deposition in skin nerves may be an intrinsic peripheral pathological change of PD, and skin biopsy immunolabelling p-α-syn merits further study as a potential peripheral biomarker of in vivo PD diagnosis.
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Objective To evaluate the effects of oral undenatured collagen type Ⅱ on rehabilitation of knee osteoarthritis. Methods Sixteen patients with levelⅠand Ⅱ knee osteoarthritis (KOA) were recruited in this study. The WOMAC questionnaire was used to measure the symptoms of knee joint in patients. The KneeKG 3D evaluation system was used to measure the kinematics characteristics of the knee joints. The pair t-test was applied to analyze the differences in knee kinematics after taking undenatured collagen type Ⅱ for 3 months. Results After taking undenatured collagen type Ⅱ, the patient’s feeling of knee joint pain, stiffness, and the difficulty of daily life was reduced. In addition, the knee flexion angle increased from 51.8°±15.2° to 58.4°±10.7° (P<0.05), and the knee varus angle decreased to 2.1°±4.8°. The improvement rate of knee varus was 82%. Conclusions Taking undenatured collagen type Ⅱ for 3 months could play a role in rehabilitation for patients with early KOA. The knee range of motion was close to the level of healthy elderly people, thus improving the symptoms of knee varus.
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Bilateral medial medullary infarction is a rare type of stroke. Hypertrophic olivary degeneration (HOD) is usually secondary to the lesion involving the Guillain-Mollaret triangle with vacuolar degeneration of inferior olivary nucleus neurons and enlargement of inferior olivary nucleus. The primary lesions involving the Guillain-Mollaret triangle are usually located in midbrain, pons and cerebellum. A case of unilateral HOD secondary to bilateral medial medullary infarction is reported and the clinical characteristics, diagnosis and treatment are analyzed in order to improve the understanding of HOD.
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Objective To evaluate the complications of the Pipeline embolization device in treating complex cerebral aneurysm. Methods Consecutive data of 53 patients who suffered from complex cerebral aneurysm and underwent Pipeline device treatment were retrospectively collected and analyzed. Clinical and imaging data including aneurysm location, type, size and the using of coils, were recorded to investigate the complications. Results Pipeline embolization device was successfully implanted, and 27 patients were combined with coils. Five complications occurred in the 1-month perioperative stage, of which, 1 was disable and 1 was fatal. Two non-disability complications occurred in the later stage beyond 1 month, of which, 1 was cerebral infraction and 1 was intraparenchymal hemorrhage. The Logistic regression analysis demonstrated that the posterior circulation location, types, large size and the using of coils were not statistically significant risk factors for complications. The median imaging follow-up for 43 patients with 58 aneurysms was 6 months, the complete and sub-complete occlusion rate of aneurysms was 74.1％ (43 / 58) and 3 non-symptomatic stenosis occurred in the patients with Pipeline embolization device. Conclusions The occlusion rate of Pipeline embolization device in treating Chinese complex cerebral aneurysm is high , but another further research should be done for the mechanism and the prevention methods of the complications.
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Inflammation response is an important pathological process of neuronal cell death after stroke.Interleukin (IL)-33/ST2 system is involved in the inflammatory response process of ischemic stroke and has been proved to be a protective factor.This article reviews the role and mechanism of IL-33/ST2 system in the regulation of immune inflammation after ischemic stroke.
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Cerebral small vessel disease (CSVD) is an imaging and clinical syndrome caused by intracranial small vessel lesions.Studies have confirmed that CSVD is closely associated with the stroke outcomes.The overall burden is a concept based on a single imaging marker of CSVD,which can comprehensively reflect the severity of brain injury and identify high-risk stroke patients.This article reviews the correlation between the overall burden of the CSVD imaging and the stroke outcomes.
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Objective To investigate correlation between the rs12122341 polymorphism and ischemic stroke and its major subtypes in Chinese Han population.Methods The patients with ischemic stroke and matched healthy controls in Chinese Han population were enrolled.The rs12122341 genotype was detected by the improved multiple ligase detection reaction (iMLDR).Results A total of 776 patients with ischemic stroke (415 large artery atherosclerotic stroke and 361 small artery occlusive stroke) and 776 healthy controls were enrolled.Genotyping showed that only rs12122341 CC and CG genotypes were detected in all subjects,and no GG genotype was detected.There was no significant difference in frequencies of allele and genotype between the patient group and the control group.Multivariate logistic regression analysis showed that there were no significant correlations between rs12122341 polymorphism and ischemic stroke (odds ratio [OR] 1.482,95％ confidence interval [CI]0.641-3.421;P =0.447),large artery atherosclerotic stroke (OR 1.972,95％ CI 0.655-6.034;P=0.227),and small arterial occlusive stroke (OR 1.632,95％ CI 0.437-6.262;P =1.000).Conclusions There is no significant correlation between the rs12122341 polymorphism and risk of ischemic stroke and its major subtypes in Chinese Han population.
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Carotid atherosclerosis,especially unstable carotid plaque,is closely related to stroke.Serum biomarkers have unique value for screening and identifying high-risk carotid plaque.This article reviews the serum biomarkers of unstable carotid plaque.
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Fluid-attenuated inversion recovery vascular hyperintensity (FVH) is a common magnetic resonance imaging findings in acute ischemic stroke due to severe stenosis or occlusion of large cerebral arteries.This article reviews the applications and related research of FVH in patients with acute ischemic stroke.
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OBJECTIVE:To investigate general regularity and characteristics of tetanus antitoxin (TAT) induced by ADRs,in order to provide reference for rational drug use in the clinic.METHODS:Domestic and foreign literatures on ADRs induced by TAT were retrieved,and related information of 2 636 case of ADR were analyzed statistically.RESULTS:Among patients whose gender and age were recorded,male with ADR induced by TAT was more than female,mainly aged 15-35 years old,accounting for 70.32 ％ (289/411);28.28 ％ (56/198) used water for injection;ADR occurred within 30 min after medication in 5.84％ (154/2 636)cases;main ADR were lesion of skin and its appendents,circulatory system damage,systemic reaction damage.Main clinical manifestations were urticaria,rash,chest tightness and anaphylaetic shock,etc.Ten cases died and 7 cases had sequelae;the rest were all recovered and cured after symptomatic treatment.CONCLUSIONS:TAT has a higher proportion of allergic reactions,especially anaphylactic shock,but great importance should be attached to rare auditory and vestibular dysfunction,visual impairment,elevated white blood cell count and other ADR.It is suggested to strengthen medication monitoring and used drugs strictly in accordance with drug package inserts so as to promote rational drug use.
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OBJECTIVE:To explore and analyze signals of Xiyanping injection-induced urticaria from spontaneous reporting system database of Jiangxi province. METHODS:The continuous ADR report monitoring data were collected from spontaneous re-porting system of Jiangxi province,and established database. Bayesian confidence propagation neural network(BCPNN) method was used to calculate information component,IC value of Xiyanping injection-induced urticaria. The year-to-year changes of IC val-ue and its interval were analyzed. RESULTS:A total of 328324 ADR reports were collected in Jiangxi province during 2004-2016. The IC value of Xiyanping injection-induced urticaria detected by BCPNN method was 1.10(the lower limit of IC value was 0.65, and upper limit was 1.54),i.e. there was signal and the IC value ranged from-0.87 to 1.65. CONCLUSIONS:The results of BCPNN method suggest that urticaria is a warning signal of Xiyanping injection. The risk is increasing gradually,and prediction precision increase with the addition of report quantity.
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Cerebral venous thrombosis, as a rare extraintestinal manifestation of inflammatory bowel disease, is often neglected in the course of clinical diagnosis and treatment. This article reviews the advances in the treatment of inflammatory bowel disease related cerebral venous thrombosis.
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Cerebral smal vessel disease (CSVD) can be divided into sporadic and hereditary CSVD. The exact pathogenesis of sporadic CSVD is unknow n. Genetic factors may also play an important role, except for environmental and vascular risk factors. As a complicated disease, sporadic CSVD has the characteristics of multigenetic susceptibility. Therefore, investigating the related genetic factors may contribute to understanding the pathogenesis of sporadic CSVD. This article review s the advances in research on the genetics of sporadic CSVD.
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Vertebral artery dominance is generally considered to be a congenital vascular variation or meaningless clinical finding.Many studies have shown that the bilateral vertebral artery blood flow asymmetry caused by vertebral artery dominance is easy to result in basilar artery curvature.Some studies have shown that there are certain correlations between both the vertebral artery dominance and the basilar artery curvature and the posterior circulation stroke.
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Objective To look for more serum biomarkers supporting the diagnosis of multiple system atrophy ( MSA) and providing more evidence for early treatment.Methods All patients and healthy controls were enrolled from January 2011 to March 2015 in the First Affiliated Hospital of Zhengzhou University.Demographic features and biochemical examination results were collected.The t test was used to compare the lipid levels between MSA patients and controls.LSD-t test was used to compare the lipid levels among subtypes of MSA patients.Multivariate Logistic regression analysis was conducted to analyze the influencing factors.The relevance between lipid levels and onset age, disease duration and Hoehn & Yahr stage was calculated by Spearman correlation coefficients.Results Participants included 195 MSA patients and 195 age-and gender-matched controls with no neurological diseases.The levels of total cholesterol ((4.33 ±0.90) mmol/L), triglyceride ((1.27 ±0.71) mmol/L), low-density lipoprotein (LDL;(2.70 ±0.76) mmol/L) were significantly lower in patients than in controls ((4.52 ±0.85), (1.47 ± 0.86), (2.85 ±0.71) mmol/L ,t=2.056,2.528 and 2.149 respectively, all P<0.05).The levels of total cholesterol ((4.28 ±0.96) mmol/L) and triglyceride ((1.20 ±0.64) mmol/L) were significantly lower in MSA-P patients than in control group ((4.52 ±0.85), (1.47 ±0.86) mmol/L;LSD-t=1.983, 2.566, both P<0.05).After adjusting for age, gender and histories, the odds ratio ( OR) was 0.31 (95%CI 0.15-0.65, P =0.002 ) for MSA patients in the highest quartile of triglyceride and 0.38 (95%CI 0.17 -0.83,P=0.016) for those in the highest quartile of high-density lipoprotein (HDL), compared with the lowest quartiles.And HDL level was in a significantly positive correlation with onset age (r=0.15, P=0.039).Conclusion Our data suggest that triglyceride and HDL may be associated with the prevalence of MSA, and the lower levels of HDL, the earlier onset of MSA.
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Basilar artery hypoplasia (BAH) has been paid less attention to in the past.However,the increased detection rate makes the clinical significance of BAH to be gradually recognized.BAH have interaction with vascular risk factors,and this may promote the occurrence of ischemic events in posterior circulation.Brain evoked potential can be used as an important means for early detection of this pathophysiological events.The depth study of pathological significance of BAH helps to deepen the understanding of the mechanisms of posterior circulation ischemic events.