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1.
Chinese Journal of Neurology ; (12): 494-503, 2023.
Article in Chinese | WPRIM | ID: wpr-994859

ABSTRACT

Objective:To investigate the clinical characteristics of circadian rhythm disorder of blood pressure and its impact on orthostatic hypotension (OH) in Parkinson′s disease (PD).Methods:A total of 165 PD patients from Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from August 2019 to October 2021 were consecutively enrolled. Medical history and scores of motor and non-motor symptoms of patients were collected. Twenty-four-hour ambulatory blood pressure and OH data were collected, and the OH questionnaire was completed. The incidence of each type of circadian rhythm disorder of blood pressure was investigated. The t test, chi-square test and Mann-Whitney U test were used to determine between-group differences of circadian rhythm disorder of blood pressure. The linear trends in clinical characteristics were tested by linear regression analysis. Logistic regression analysis was used to analyze the relationship between different circadian rhythm disorders of blood pressure and OH as well as symptomatic OH (SOH). Results:In 165 PD patients, the incidence of reverse dipping pattern was 39.39% (65/165), nocturnal hypertension was 43.64% (72/165), and awakening hypotension was 31.52% (52/165). Compared with patients without reverse dipping pattern, patients with reverse dipping pattern were older [(71.72±7.81) years vs (65.29±9.68) years, t=-4.491, P<0.001], had later onset age [(66.67±9.10) years vs (62.16±10.66) years, t=-2.809, P=0.006], longer duration [36.00(20.50, 95.50) months vs 24.00(12.00, 41.75) months, Z=-3.393, P<0.001], higher dose of levodopa (LD) [(426.15±267.38) mg/d vs (284.00±235.58) mg/d, t=-3.590, P<0.001], higher levodopa equivalent dose (LED) [(514.80±360.03) mg/d vs (341.44±284.57) mg/d, t=-3.440, P=0.001], higher Unified Parkinson′s Disease Rating Scale (UPDRS)-Ⅱ scores (12.92±6.38 vs 9.54±5.59, t=-3.434, P=0.001), higher UPDRS-Ⅲ scores (28.34±11.60 vs 21.41±12.18, t=-3.508, P=0.001) and higher percentages of hallucinations [18.46% (12/65) vs 7.00% (7/100), χ2 =5.079, P=0.024]. Compared with patients without awakening hypotension, patients with awakening hypotension were older [(70.83±7.09) years vs (66.44±10.16) years, t=-2.811, P=0.006]. Compared with patients without nocturnal hypertension, patients with nocturnal hypertension had longer duration [39.50(15.00, 96.00) months vs 24.00 (12.00, 36.00) months, Z=-2.944, P=0.003], higher LD [(398.61±251.19) mg/d vs (294.62±254.25) mg/d, t=-2.619, P=0.010], higher LED [(493.28±344.02) mg/d vs (345.05±298.59) mg/d, t=-2.959, P=0.004], higher percentages of hallucinations [19.44% (14/72) vs 5.38% (5/93), χ2 =7.882, P=0.005], higher UPDRS-Ⅱ scores (12.08±6.33 vs 10.00±5.86, t=-2.086, P=0.039), higher UPDRS-Ⅲ scores (26.50±11.72 vs 22.42±12.66, t=-2.034, P=0.044), and greater blood pressure variability (BPV) (20.66±5.47 vs 17.44±5.36, t=-3.798, P<0.001). Trend analysis showed that the variety of circadian rhythm was positively correlated with age and duration, use of levodopa and monoamine oxidase B inhibitors and amantidine, morning and daily LD and LED, UPDRS-Ⅱ, UPDRS-Ⅲ and Hamilton Anxiety Scale scores, hallucinations, OH and SOH, and BPV in PD ( P<0.05). Multivariate Logistic regression analysis showed that awakening hypotension ( OR=3.35, 95% CI 1.55-7.22, P=0.002) and nocturnal hypertension ( OR=2.44, 95% CI 1.20-4.97, P=0.014) were risk factors for OH, and LED ( OR=1.21, 95% CI 1.01-1.43, P=0.035), UPDRS-Ⅲ scores ( OR=1.09, 95% CI 1.02-1.16, P=0.009) and w-BPV ( OR=1.14, 95% CI 1.01-1.29, P=0.029) were independent risk factors for SOH. Conclusions:Circadian rhythm disorder of blood pressure was correlated with age, duration, severity of motor symptoms. Awakening hypotension and nocturnal hypertension are independent risk factors for OH in PD.

2.
Chinese Journal of Medical Genetics ; (6): 887-891, 2023.
Article in Chinese | WPRIM | ID: wpr-981842

ABSTRACT

The GATOR1 complex is located at the upstream of the mTOR signal pathway and can regulate the function of mTORC1. Genetic variants of the GATOR1 complex are closely associated with epilepsy, developmental delay, cerebral cortical malformation and tumor. This article has reviewed the research progress in diseases associated with genetic variants of the GATOR1 complex, with the aim to provide a reference for the diagnosis and treatment of such patients.


Subject(s)
Humans , GTPase-Activating Proteins/metabolism , Signal Transduction/genetics , Mechanistic Target of Rapamycin Complex 1/metabolism , Epilepsy/genetics , Neoplasms
3.
Chinese Journal of Medical Genetics ; (6): 558-562, 2023.
Article in Chinese | WPRIM | ID: wpr-981788

ABSTRACT

OBJECTIVE@#To explore the clinical feature and genetic variant of a child with autosomal recessive Charlevoix-Saguenay type spastic ataxia (ARSACS).@*METHODS@#Clinical data of a child who was admitted to the West China Second Hospital of Sichuan University on April 30, 2021 was collected. Whole exome sequencing (WES) was carried out for the child and his parents. Candidate variants were verified by Sanger sequencing and bioinformatic analysis based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#The child, a 3-year-and-3-month-old female, had a complain of "walking instability for over a year". Physical and laboratory examination revealed progressive and aggravated gait instability, increased muscle tone of the right limbs, peripheral neuropathy of the lower limbs, and thickening of retinal nerve fiber layer. The results of WES revealed that she has harbored a maternally derived heterozygous deletion of exons 1 to 10 of the SACS gene, in addition with a de novo heterozygous c.3328dupA variant in exon 10 of the SACS gene. Based on the ACMG guidelines, the exons 1-10 deletion was rated as likely pathogenic (PVS1+PM2_Supporting), and the c.3328dupA was rated as a pathogenic variant (PVS1_Strong+PS2+PM2_Supporting). Neither variant was recorded in the human population databases.@*CONCLUSION@#The c.3328dupA variant and the deletion of exons 1-10 of the SACS gene probably underlay the ARSACS in this patient.


Subject(s)
Female , Humans , Child, Preschool , Heat-Shock Proteins/genetics , Muscle Spasticity/genetics , Mutation , Spinocerebellar Ataxias/pathology
4.
Chinese Journal of Medical Genetics ; (6): 552-557, 2023.
Article in Chinese | WPRIM | ID: wpr-981787

ABSTRACT

OBJECTIVE@#To investigate the clinical phenotype and genetic basis of a child with epilepsy and global developmental delay.@*METHODS@#A child with epilepsy and global developmental delay who had visited West China Second University Hospital, Sichuan University on April 1, 2021 was selected as the study subject. Clinical data of the child were reviewed. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. A literature review was also carried out by searching databases such as Wanfang data knowledge service platform, China National Knowledge Infrastructure, PubMed, ClinVar and Embase to summarize the clinical phenotypes and genotypes of the affected children.@*RESULTS@#The child was a 2-year-and-2-month-old male with epilepsy, global developmental delay and macrocephaly. Results of WES showed that the child has harbored a c.1427T>C variant of the PAK1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Only one similar case had been recorded by the dbSNP, OMIM, HGMD, and ClinVar databases. No frequency for this variant among Asian population was available in the ExAC, 1000 Genomes, and gnomAD databases. Prediction with IFT, PolyPhen-2, LRT, Mutation Taster, and FATHMM online software suggested that this variant is deleterious to the function of encoded protein. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the PAK1 gene c.1427T>C variant was determined to be likely pathogenic.@*CONCLUSION@#The PAK1 gene c.1427T>C variant probably underlay the epilepsy and global developmental delay in this child, which has provided a reference for the clinical diagnosis and genetic counseling in children with similar disorders.


Subject(s)
Humans , Male , Child, Preschool , China , Computational Biology , Consensus , Epilepsy/genetics , Genotype , Mutation , p21-Activated Kinases/genetics
5.
Chinese Journal of Neurology ; (12): 706-714, 2022.
Article in Chinese | WPRIM | ID: wpr-957958

ABSTRACT

Objective:To determine the evolution of gait impairment over the course of Parkinson′s disease (PD) by assessing the changes of gait characteristics in different disease stages, which could be helpful for disease monitoring.Methods:A total of 276 PD patients [PD group, Hoehn-Yahr (H-Y) stage 1-3] and 63 healthy controls (control group) enrolled in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from January 2019 to September 2021 were included in this cross-sectional study. The gait spatiotemporal variables were recorded by a portable inertial measurement unit system. Exploratory factor analysis was performed to obtain gait domains representing different gait characteristics. One way analysis of variance was used to evaluate the differences of gait variables and gait domains among the control group and 3 different H-Y stages of the PD group, as well as the differences among the control group and 2 motor subtypes of PD in different stages. The sensitivity of different gait variables and gait domains in evaluating the severity of gait impairments at different disease stages was compared.Results:Eleven gait spatiotemporal variables were grouped in 4 gait domains: pace (step length, gait speed and stride length), rhythm/phase (cadence, stride time and double support time), pace-related variability/asymmetry [step length coefficient of variation (CV), gait speed CV and step length asymmetry] and rhythm/phase-related variability/asymmetry (swing time CV and swing time asymmetry). As the disease progresses, most evolution trends of the 4 gait domains in the tremor-dominant PD patients were consistent with those in the non-tremor-dominant subtype. Compared with the control group, PD patients at H-Y stage 1 began to show the mild impairment of rhythm/phase-related variability/asymmetry (effect size 0.42; standardized score -0.03±0.69 vs -0.33±0.49, P<0.05), especially swing time asymmetry in tremor-dominant patients; the pace domain was damaged moderately in PD patients at H-Y stage 2 (effect size 0.64; standardized score 0.12±0.80 vs 0.64±0.81, P<0.05), especially in non-tremor-dominant PD patients, but not in PD patients at H-Y stage 1 ( P>0.05). Pace-related variability/asymmetry showed great impairment in PD patients at H-Y stage 3 (effect size 0.62; standardized score 0.27±1.12 vs -0.27±0.52, P<0.05), but not in PD patients at H-Y stages 1 and 2 ( P>0.05). Conclusions:The characteristic impairments of gait in PD evolve in the process of disease progression. The rhythm/phase-related variability/asymmetry domain may be a marker to distinguish early PD from healthy controls. The pace domain and the pace-related variability/asymmetry domain are important markers to evaluate the progression of PD.

6.
Chinese Journal of Neurology ; (12): 196-202, 2022.
Article in Chinese | WPRIM | ID: wpr-933781

ABSTRACT

Objective:To investigate whether the presynaptic dopamine neuronal depletion in different striatal subregions predicts future development of wearing-off (WO) in Parkinson′s disease (PD) patients.Methods:A retrospective longitudinal study included 57 PD patients who were referred to the Department of Neurology of Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from January 2019 to September 2020, and completed 11C-2β-carbomethoxy-3β-(4-fluorophenyl) tropane dopamine transporter (DAT) positron emission tomography scans at the initial evaluation and received dopaminergic drugs for at least 12 months during follow-up. The time of starting dopaminergic drug treatment and the occurrence of WO were recorded. After adjusting for clinical related factors, the predictive value of DAT uptake and related parameters in striatal subregions for WO was evaluated by Cox proportional hazards model. Results:During a median follow-up period of 23 months, 10 patients (18.18%) developed WO. Patients with WO exhibited less DAT uptake in the caudate nucleus and anterior putamen nucleus (0.66±0.52 vs 1.08±0.42, t=2.76, P=0.008 and 0.66±0.20 vs 0.87±0.28, t=2.27, P=0.027 respectively), especially in these subregions contralateral to the less-affected side of the body, compared to those without WO. Cox proportional hazard models revealed that after adjusting for gender, age, course of disease, baseline Unified Parkinson′s Disease Rating Scale Ⅲ score and increment of levodopa equivalent dosage, the lower the DAT uptake of the caudate ipsilateral to the less-affected side of the body ( HR=0.20, 95% CI 0.07-0.63, P=0.006), as well as the lower the DAT uptake of the caudate nucleus and posterior putamen nucleus ( HR=0.28, 95% CI 0.11-0.69, P=0.006 and HR=0.08, 95% CI 0.01-0.64, P=0.018 respectively) and the higher the ratio of putamen/caudate contralateral to the less-affected side of the body ( HR=2.33, 95% CI 1.02-5.33, P=0.045), the higher the risk of WO. Conclusion:The presynaptic dopamine neuronal loss, particularly bilateral caudate nucleus dopaminergic depletion at the early stage, has predictive value of development of WO in PD.

7.
Chinese Journal of Medical Genetics ; (6): 484-487, 2022.
Article in Chinese | WPRIM | ID: wpr-928442

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics and CSNK2B gene variant of 2 children with Poirier-Bienvenu neurodevelopmental syndrome, and to identify the possible pathogenic causes and provide evidence for clinical diagnosis.@*METHODS@#Two children with Poirier-Bienvenu neurodevelopmental syndrome were selected from West China Second University Hospital, Sichuan University. The clinical manifestations, laboratory examination and CSNK2B gene variant were analyzed.@*RESULTS@#The main manifestations of 2 children were epilepsy, motor or intellectual retardation. Whole exon sequencing showed that CSNK2B gene c. 291+4A>T heterozygous splicing variant was found in case one, and CSNK2B copy number variation(CNV) was lost in case two. Case one received no special treatment, followed up for 8+ months, seizures and motor development were improved; case two had recurrent seizures for 9+ years, and received levetiracetam and clonazepam antiepileptic treatment. No seizures have occurred for 2 years now, and a large number of epileptic discharges can still be seen in video electroencephalogram (VEEG) with slightly backward intelligence and language development.@*CONCLUSION@#Our study further proves that the pathogenic variant of CSNK2B is related to epilepsy with developmental disorder, and enrich is the CSNK2B gene variant spectrum. The pathogenesis of CSNK2B has great clinical heterogeneity, with great difference in severity of nervous system injury and different prognosis, and agenesis of corpus callosum may be one of its clinical phenotypes.


Subject(s)
Child , Humans , DNA Copy Number Variations , Developmental Disabilities/genetics , Epilepsy/genetics , Intellectual Disability/genetics , Seizures/genetics
8.
Chinese Journal of Medical Genetics ; (6): 397-400, 2022.
Article in Chinese | WPRIM | ID: wpr-928427

ABSTRACT

OBJECTIVE@#To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome.@*METHODS@#Whole exome sequencing was carried out for the child.@*RESULTS@#The patient has presented with developmental delay, hypotonia, strabismus and snoring. Cranial MRI revealed hypomyelination, while the EEGs were normal. Genetic testing revealed a de novo variant of the AHDC1 gene, namely c.730delA (p.Ile244Serfs*16), which was classified as pathogenic (PVS1+PS2+PM2). Together with 60 cases from the literature, individuals harboring a AHDC1 variant commonly have delayed motor milestones, speech delay, facial dysmorphism and hypotonia. Dysgenesis of corpus callosum is also common. In total 47 AHDC1 variants have been reported, among which truncating variants were the most common type.@*CONCLUSION@#The c.730delA (p.Ile244Serfs*16) variant of the AHDC1 gene probably underlay the Xia-Gibbs syndrome in this patient. Above finding has provided a basis for the clinical diagnosis.


Subject(s)
Child , Humans , Abnormalities, Multiple/genetics , DNA-Binding Proteins/genetics , Intellectual Disability/genetics , Muscle Hypotonia , Mutation , Exome Sequencing
9.
Chinese Journal of Medical Genetics ; (6): 293-296, 2022.
Article in Chinese | WPRIM | ID: wpr-928404

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics and ZBTB18 gene variant in a child with epilepsy and global developmental delay.@*METHODS@#Clinical data and laboratory examination of the patient were reviewed. Whole exome sequencing (WES) was also carried out for the family trio.@*RESULTS@#The main manifestations of the child included global developmental delay, short stature, epileptic seizures. EEG revealed frequent occurrence of sharp (slow) waves in the right central region during sleeping, with sharp waves occasionally seen in the frontal and right posterior temporal regions. Cranial MRI has shown no obvious abnormality. WES has identified a de novo pathogenic variant in the ZBTB18 gene [NM_205768.3: exon 2: c.1282_1283del (p.Phe428Leufs*72)]. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PVS1_Moderate+PM2_Supporting). Following treatment with levetiracetam and rehabilitation, the seizures have been controlled for nearly half a year, with improvement of the psychomotor and language development. So far 28 children have been discovered with ZBTB18 gene mutations, and there was a significant difference in the clinical phenotypes of motor retardation, language retardation and epilepsy between those harboring frameshift/nonsense mutations and missense mutations.@*CONCLUSION@#The c.1282_1283del (p.Phe428leufs *72) variant of the ZBTB18 probably underlay the autosomal dominant mental disorder type 22 in this child. Compared with missense mutations, frameshift/nonsense mutations may predispose more to motor retardation, delayed language development and epilepsy.


Subject(s)
Humans , Codon, Nonsense , Epilepsy/genetics , Intellectual Disability/genetics , Mutation , Exome Sequencing
10.
Chinese Journal of Applied Clinical Pediatrics ; (24): 540-543, 2021.
Article in Chinese | WPRIM | ID: wpr-882863

ABSTRACT

To study the clinical features, diagnosis, and treatment of SCN8 A-related infantile spasm, one 21-month-boy identified a de novo mutation of SCN8 A-related infantile spasm was admitted to West China Second University Hospital, Sichuan University in September 2019 and was enrolled as a research subject.The clinical manifestation and diagnosis process were analyzed by carrying out the retrospective analysis method.This case is the first report on SCN8 A-related infantile spasm in China.This child had hiatal hernia, which has never been reported in SCN8 A gene mutation people.The boy shows marked developmental regression after the onset of seizures at 8-month-old, and a variety of antiepileptic drugs are ineffective.Recently, seizure types have changed into infantile spasm.Levetiracetam was stopped, and provided adrenocorticotropic hormone (ACTH). After treatment, the spasm was relieved.Hiatal hernia may be a phenotype of SCN8 A gene mutation.Sodium channel blockers display high efficacy in SCN8 A-related epilepsy.ACTH therapy for SCN8 A-related infantile spasm is effective.

11.
Chinese Journal of Medical Genetics ; (6): 969-972, 2021.
Article in Chinese | WPRIM | ID: wpr-921978

ABSTRACT

OBJECTIVE@#To explore the clinical phenotype and genetic characteristics of two children with developmental epileptic encephalopathy type 66.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the two children and their parents. Whole exome sequencing (WES) was carried out and suspected variant was verified by Sanger sequencing.@*RESULTS@#The main manifestations of the two children were neonatal onset seizures, hypotonia, global developmental delay, and facial dysmorphisms. Cranial MRI showed delayed myelination in case 1 and cerebellar dysgenesis in case 2. WES has identified a de novo pathogenic variant in the PACS2 gene in both patients, namely c.625G>A (p.Glu209Lys)(NM_001100913.3), which was reported as a pathogenic variant before. This variant was predicted to be pathogenic according to the American College of Medical Genetics and Genomics guideline (PS2+PM2+PP3). The seizures were controlled after combination treatment of sodium valproate and levetiracetam in both cases. At last follow-up, the motor and intellectual development of the 2 cases were improved. Compared with the cases reported, the clinical symptoms and signs of our cases were relatively mild, and the treatment effects were fairly good.@*CONCLUSION@#The variant of c.625G>A (p.Glu209Lys) in PACS2 gene is a hotspot variant of developmental epileptic encephalopathy 66. Gene testing can facilitate the clinical diagnosis and treatment.


Subject(s)
Child , Humans , Epilepsy, Generalized , Family , Genetic Testing , Magnetic Resonance Imaging , Vesicular Transport Proteins/genetics , Exome Sequencing
12.
Chinese Journal of Medical Genetics ; (6): 887-890, 2021.
Article in Chinese | WPRIM | ID: wpr-921963

ABSTRACT

OBJECTIVE@#To explore the clinical features and disease-causing variants of a pediatric patient with fatal encephalopathy caused by mitochondrial peroxidase division deficiency, to identify the possible genetic causes of the disease and provide a basis for clinical diagnosis.@*METHODS@#A child with fatal encephalopathy caused by mitochondrial peroxidase division deficiency in West China Second Hospital of Sichuan University was selected. The clinical manifestations, laboratory findings and disease-causing variant were analyzed.@*RESULTS@#The main clinical symptoms of the patient were fever, headache and vomiting, followed by drug refractory epilepsy and progressive disturbance of consciousness. MRI showed deepening of sulcus, dilatation of bilateral ventricles, and multiple patch-like abnormal signals in paraventricular white matter, semioval center and subcortical white matter of bilateral frontal lobe. Gene detection showed a heterozygous missense variant c.1207C>T(p.Arg403Cys) in DNM1L, according to the American College of Medical Genetics and Genomics classification standards and guidelines for genetic variants, this variant was predicted to be pathogenic(PS1+PS2+PM2+PP3). After treated with gamma globulin, glucocorticoid, "mitochondrial cocktail therapy" and anti-epilepsy drugs, the condition of the patient was getting better, seizure attacks reduced and consciousness level improved.@*CONCLUSION@#The c.1207C>T variant in DNM1L gene may be the disease-causing variant for the patient, and the result of genetic testing provides a basis for the clinical diagnosis in this case.


Subject(s)
Child , Humans , Drug Resistant Epilepsy , Dynamins , Genomics , Mitochondria , Mutation , Peroxidase , Seizures
13.
Chinese Journal of Neurology ; (12): 485-492, 2020.
Article in Chinese | WPRIM | ID: wpr-870845

ABSTRACT

Objective:To identify and quantify spatiotemporal and kinematic gait parameters in a group of early-stage Parkinson′s disease (PD) patients compared with healthy subjects.Methods:Eight patients with PD (PD group, Hoehn-Yahr stage≤2.5) and seven age-matched healthy subjects (control group) were enrolled from the Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine between May 2017 and August 2018 for the study. The spatiotemporal and kinematic gait parameters were obtained by Vicon 3D optical motion analysis system under three conditions: single-task walking, dual-task walking and turning. The linear mixed model was used to compare the gait parameters between the two groups and analyze the interactive effects.Results:Arm swing amplitude in the PD group was lower than that in the control group ((0.63±0.15) m vs (0.89±0.27) m in single-task walking, (0.64±0.16) m vs (0.99±0.22) m in dual-task walking, β=-0.353, 95% CI -0.558--0.148, P=0.002). The PD group showed significantly higher arm swing asymmetry than the control group (12.48%±5.48% vs 6.96%±4.39% in single-task walking, 17.13%±4.05% vs 7.67%±5.23% in dual-task walking, β=8.992, 95% CI 4.148-13.836, P=0.001). A notable interactive effect of groups and task factors in arm swing asymmetry was found. The arm swing asymmetry of the PD group increased more than the control group in dual-task walking than in single-task walking (β=3.916, 95% CI 1.367-6.466, P=0.003). As for the gait characteristics of the lower limbs, stride length and step length of the PD group were lower than those of the control group ((1.10±0.17) m vs (1.31±0.10) m in stride length, β=-0.169, 95% CI -0.300--0.038, P=0.015; (0.55±0.09) m vs (0.65±0.04) m in step length, β=-0.081, 95% CI -0.150--0.013, P=0.023). For both groups, statistically significant differences were not observed in step width, stride length and step length between single-task and dual-task walking ( P>0.05). The PD group completed the turning process faster than the control group ((1.66±0.30) s vs (1.37±0.23) s, β=0.302, 95% CI 0.049-0.555, P=0.023). As for the rotation-onset pattern, no statistically significant differences were found between the PD and the control group for the onset of the head, trunk and pelvic rotation ( P>0.05). Participants started to rotate their heads before the pelvis in all groups (β=-0.060, 95% CI-0.107--0.014, P=0.011). Conclusions:The quantified gait parameters can more accurately reflect the gait characteristics of early PD. Patients with PD exhibited smaller arm swing magnitude, greater arm swing asymmetry, shorter stride length, and slower turning speed compared to the controls. Arm swing asymmetry further differs between subjects with early PD and controls under dual-task walking.

14.
Chinese Journal of Neurology ; (12): 465-469, 2020.
Article in Chinese | WPRIM | ID: wpr-870832

ABSTRACT

Parkinson′s disease (PD) is the common progressive neurodegenerative disorder affecting older adults. Alterations of the circadian system occur in PD patients. However, the molecular mechanisms and pathophysiological process remain elusive. Circadian rhythm is modulated by both internal and external factors and using bright light and melatonin as chronotherapeutic tools may be potential therapies to improve symptoms of PD in the future. This article reviewed the abnormal changes of circadian parameters in clinical symptoms of PD and the possible mechanisms of circadian rhythm to provide basis for exploring the therapeutic strategies of circadian rhythm in PD.

15.
Chinese Journal of Neurology ; (12): 364-370, 2019.
Article in Chinese | WPRIM | ID: wpr-745940

ABSTRACT

Objective To analyze the characteristic changes of macular thickness in patients with Parkinson's disease by spectral-domain optical coherence tomography (SD-OCT),and find out the association between macular thickness and disease progression,cognitive dysfunction,visuospatial impairment and asymmetry of motor symptoms.Methods Seventy-one Parkinson's disease (PD) patients who were admitted to the Department of Neurology,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine from January 2016 to May 2018 and sixty-one healthy controls who volunteered to participate for the same period were enrolled and underwent SD-OCT examination.The macular thickness of all retinal quadrant segments,foveal thickness,and macular volume between the two groups were comparatively analyzed.Associations between macular measurements and clinical parameters such as disease duration,Unified Parkinson's Disease Rating Scale part Ⅲ (UPDRS-Ⅲ) scores,Montreal Cognitive Assessment (MoCA) total scores,and visuospatial subscores were analyzed using generalized estimated equation fitted with linear regression models.Results Mean macular thickness in the PD group was significantly reduced compared with those in the control group ((261.94± 12.90) μm vs (270.96± 10.71) μm,B=-8.135,P<0.01).All quadrants of macular thickness (except fovea and 1 mm central zone) in the PD group were reduced compared with those in the control group.Receiver operating characteristic (ROC) curve analysis revealed that inner superior thickness could predict the presence of PD with an area under ROC of 0.727 (95%CI 0.662-0.792,P<0.01).UPDRS-Ⅲ scores were negatively correlated with foveal thickness (B=-9.132,P=0.034),1 mm central zone thickness (B=6.963,P=0.036) and all quadrants of the inner ring (superior (B=-7.727,P<0.01),inferior (B=-5.169,P=0.044),nasal (B=-5.960,P<0.01) and temporal (B=-5.905,P<0.01)) macular thickness.The disease duration had no relationship with any quadrant of macular measurements.No statistically significant difference was found between the macula parameters of the hemiretinae corresponding to more and less severely affected cerebral hemisphere.MoCA total scores were positively correlated with all quadrants of the inner ring (superior (B=2.693,P=0.007),inferior (B=3.391,P=0.002),nasal (B=2.609,P=0.001) and temporal (B=2.115,P=0.013)) macular thickness.MoCA visuospatial subscores were positively associated with average macular thickness (B=4.368,P=0.042),macular volume (B=0.161,P=0.004),inferior (B=8.582,6.541),nasal (B=8.130,6.017) and temporal (B=5.938,5.316)quadrants of outer and inner rings macular thickness (all P<0.05).Conclusions In PD patients,the macular thickness and macular volume were decreased.Asymmetry was not identified between hemiretinae in PD.Some quadrants of macular thickness were associated with disease progression,cognitive dysfunction,and visuospatial impairment.

16.
Chinese Journal of Medical Education Research ; (12): 1049-1052, 2017.
Article in Chinese | WPRIM | ID: wpr-666659

ABSTRACT

In the course of the training of clinical specialty degree graduate education and standard-ized training of residents(referred to as"temporary residence"),students are required to obtain"four certifi-cates" in 3 years". Here, our department of Neurology reviewed residents who were trained by this training mode. Their ability of clinical neurological profession, clinical thinking and clinical research was with effective promotion through"one to one"teaching method,the tutor-responsibility system,PBL teaching and literature-reading meeting. The objective is to get the best effect in 3 years, to explore a more suitable training mode for these residents and train high-level clinicians with applied and academic types.

17.
Journal of Xi'an Jiaotong University(Medical Sciences) ; (6): 698-701,719, 2017.
Article in Chinese | WPRIM | ID: wpr-615660

ABSTRACT

Objective To observe the morphology of ethanol-wet dentin surfaces and detect their nano-scale adhesion force (Fad) by atomic force microscopy (AFM) in order to explore the potential mechanism of ethanol-wet bonding in improving clinical dentin bonding effectiveness.Methods Dentin slices from human premolar roots were prepared into flat ones, polished, and then randomly divided into five groups.All the specimens were acid-etched, rinsed, and left moist.They were then treated with 100% ethanol for 0s (control group), 20s, 60s, 3×60s, or stepwise ethanol application.Afterwards, each group was scanned for the morphology in air and the Fad was probed by AFM.One-way ANOVA followed by Tukey`s test was employed for multiple comparisons using SPSS16.0.Results Compared with control group, ethanol-wet dentine produced a less undulating and relatively smooth surface topography.Ethanol-wet protocol significantly decreased the value of Fad in the experimental groups (P0.05).Conclusion When using AFM in air, ethanol-wet protocol with longer time can produce a less undulating and relatively smooth surface topography and decrease the Fad, whichindicates that the water saturated in dentin matrix was replaced more thoroughly by longer ethanol application time.This will benefit hydrophobicity of the dentin bonding interface.

18.
Chinese Journal of Medical Education Research ; (12): 751-754, 2017.
Article in Chinese | WPRIM | ID: wpr-607393

ABSTRACT

Electroencephalography (EEG) is an important instrument for the evaluation of brain function, and an irreplaceable diagnostic technique for nervous system diseases. At present, China still lacks professional child-EEG talents. Therefore, it is a task of great priority to establish an effective and practical training method and foster more child-EEG physicians. As most trainees have not learned EEG before and only have limited time for learning, we divide the child-EEG training into three phases, includ-ing theory learning, practice training, and EEG reading and interpretation on the basis of the general rules in learning EEG. In the theory learning phase, basic EEG knowledge is taught comprehensively to form a solid foundation for future study. In practice training phase, the trainees acquire important skills of EEG by carrying out complete EEG monitoring, eliminating EEG artifacts, observing seizures, and read real-time EEG. In the phase of EEG reading and interpretation, the trainees learn to analyze EEG gradually by read-ing and report EEG under the guidance of the senior physician. Strict examination is arranged for each phase to evaluate study results objectively. The phased model is designed to implement a step-by-step training of child-EEG and foster the trainee's independent ability to carry out EEG inspection.

19.
Chinese Journal of Stomatology ; (12): 278-282, 2017.
Article in Chinese | WPRIM | ID: wpr-808619

ABSTRACT

Objective@#To evaluate a nano-hydroxyapatite (nano-HA) desensitizing paste application on the bond strength of three self-etch adhesives.@*Methods@#Three dentin specimens of about 1 mm thick were cut from two teeth. Scanning electron microscope (SEM) was used to evaluate the dentin surfaces without treatment, after citric acid treatment and after nano-HA treatment. Thirty-six intact third molars extracted for surgical reasons were cut to remove the occlusal enamel with isomet, and then were etched with 1% citric acid for 20 s to simulate the sensitive dentin and divided into two groups randomly using a table of random numbers (n=18): the control group (no treatment) and the HA treated group (with nano-HA paste treatment). Each group was divided into three subgroups randomly using a table of random numbers (n=6). Subgroup A, B and C was bonded with G-Bond, Clearfil S3 Bond and FL-Bond Ⅱ according to the manufacture's instruction separately. At 24 h after bonding procedure, and after water storage for 6 months, microtensile bond strength of the specimens was tested and the failure mode was analyzed.@*Results@#SEM obeservation showed that citric acid could open the dentin tubules to set up the sensitive dentin model, and the nano-HA could occlude the dentin tubules effectively. For subgroup A, bonding strength of specimens treated with nano-HA ([41.14±8.91] MPa) was significantly high than that of the control group ([34.27±6.16] MPa) at 24 h after bonding procedure (P<0.05). However, after 6 month water ageing, the bonding strength of the control group and the HA treated group showed no significant difference (P>0.05). For subgroup B, specimens with nano-HA application showed lower bonding strength ([30.87±6.41] MPa) than that of the control group ([36.73±5.82] MPa) at 24 h after bonding procedure (P<0.05), and after 6 month water ageing, the bond strength of nano-HA application ([25.73±6.99] MPa) was also lower than that of the control group ([32.33±5.08] MPa) (P<0.05). For subgroup C, the bond strength of the control group and the HA treated group have no significant difference either before or after 6 month water ageing (P>0.05). Failure mode analysis showed that more than half of the samples in all groups were adhesive failure.@*Conclusions@#Nano-HA treatment decreased the bond strength of subgroup B, while had no adverse effect on subgroup A and subgroup C.

20.
Chinese Journal of Contemporary Pediatrics ; (12): 415-420, 2016.
Article in Chinese | WPRIM | ID: wpr-261217

ABSTRACT

<p><b>OBJECTIVE</b>To introduce co-word analysis into the analysis of the current research status of childhood tuberculous meningitis, to compare the similarities and differences in research topics of the field in China and abroad over the past decade, and to discover the advantages and weak links in the study field in China.</p><p><b>METHODS</b>PubMed, CNKI, VIP, and Wanfang Data were searched for the articles which met the inclusion criteria. Ucinet 6.0 and Netdraw were used for co-occurrence analysis, and the co-article relationship between high-frequency key words was visualized.</p><p><b>RESULTS</b>A total of 226 articles abroad and 186 Chinese articles on childhood tuberculous meningitis were obtained. The figures for co-occurrence analysis of high-frequency key words in research articles on childhood tuberculous meningitis in China and abroad were successfully plotted. Compared with the studies in China, the studies abroad were more sophisticated and well-developed, with more studies on drug-resistant tuberculosis, the relationship between tuberculosis and AIDS, and the epidemiology of tuberculosis. The key words listed in the studies abroad were more standard. The studies in China on childhood tuberculous meningitis concentrated on vaccination and nursing.</p><p><b>CONCLUSIONS</b>In general, the studies on childhood tuberculous meningitis in China and abroad have the same directions. The studies abroad have a complicated network and use more standard key words. The studies on childhood tuberculous meningitis are well conducted in China. However, more studies are needed for drug-resistant tuberculosis, the relationship between tuberculosis and AIDS, and the epidemiology of tuberculosis in future.</p>


Subject(s)
Humans , Biomedical Research , China , Tuberculosis, Meningeal , Drug Therapy , Epidemiology
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