Objective To analyze the clinical characteristics of dopa-responsive dystonia (DRD). Methods The clinical characteristics and the causes of misdiagnosis in 15 patients with DRD were reviewed retrospectively.Results 4 male and 11 female patients were investigated in this study. The age at DRD onset was from 3~25 years old,the average age was 11.7 years old.The courses ranged from 2 to 29 years and the average was 12.1 years. The symptoms in female patients often aggravated during gravidity and delivery. Main clinical features included gait irregularity, postural instability and tremor, with marked diurnal fluctuation. The disease may be misdiagnosed as cerebral palsy, idiopathic torsion dystonia, essential tremor, parkinson's disease, neurosis and so on. All the patients in this study improved obviously in 2 weeks after therapy with low dose of Madopar, and recovered in 2~4 years of follow up.Conclusions Clinical diversity and diurnal fluctuation are the characteristics of DRD. Early trial treatment with low dose of Levodopa should be highly recommended for the generalized dystonia in children and untypical adults.

Preoperative qualitative diagnoses of 118 eases of renal tumour.made by B-mode ultrasound were analyzed.The final diagnoses were proven operatively and pathologically.The resultsshowed that by B-mode altrasound the detective rate was 92.2%,a correct qualitative diagnosis rate 49.1%,incorrect rate 18.1%and false positive rate 1.7%.Qualitatively unidentified turnouts accounted for 32.8%of all the cases.It is assumed that B-mode ultrasound can be used to make correct qualitative diagnosis only on certain tumours with typical image features.It is difficult for it to distinguish some tumours which have complicated displays.The accuracy of preoperative qualitative diagnosis could be raised by combining B-mode uhradound with other imaging technologicol examinations.

Objective To evaluate the efficacy of Chinese botulinum toxin A(CBTX-A)injection in the treatment of motor tics in patients with tic disorder.Methods Twenty-five patients(20 male,5 female)were treated with CBTX-A in the sites of their most problematic motor tics.Before treatment the data of Yale Global Tic Severityb Scale(YGTSS)was collected.All patients were assessed at least 3 times after 1 week,4 weeks and within 12-month period.At each visit the following data were collected:YGTSS,Jankovic clinical rating scale,time to response,duration of response,global impression of changes by patients,presence of premonitory sensory tic component and side effects.Results Total number of treatment sessions was 29.The mean response time was 5.0 days.The mean duration of response was 4.6 months.The mean peak effect response in Jankovic clinical rating scale was 3.4.Based on YGTSS,62.1% (18/29)was rated as marked improvement,34.5%(10/29)as moderate improvement and only 3.4% (1/29)as no effect.85.7%(18/21)patients had less premonitory sensation symptoms(mean benefit 72.4%(20%-100%)).Weakness in the site of injection and rash were the main side effect. Conclusion CBTX-A is an effective and safe treatment for motor tics associated with tic disorder.

Child ; Humans ; Middle Ear Ventilation ; Otitis Media ; Otitis Media with Effusion ; surgery ; Recurrence

Objective To explore the risk factors of benign essential blepharospasm( BEB) and each factor' s intensity.Methods Totally 100 patients with BEB including Meige and cranial-cervical without other neurological abnormalities were recuited from the outpatient clinic of Department of Neurology, Peking Union Medical College Hospital from April 2009 to March 2010 as case group.At the same time, 100 outpatients diagnosed with idiopathic hemifacial spasm ( HFS) and 40 healthy controls without extrapyramidal diseases or other neurological diseases were recuited from the same outpatient clinic.All the cases and controls were investigated by questionnaires about general conditions, social behavioral factors, environmental factors, phychiatrical factors, genetic factors, previous diseases.The data was analysed by Logistic regression model with the statistical software SPSS 11.0.Results Multivariate analysis indicated that eye disease (OR = 5.818, 95% CI 2.510-13.486), anxiety (OR=3.433, 95% CI 1.548-7.610) and depression (OR =2.894, 95% CI 1.091-7.681) were positively related with BEB, whereas coffee drinking (OR = 0.251, 95% CI 0.080-0.784) had a negative relationship with BEB ( all P ＜ 0.05 ).Conclusions The risk factors of BEB are eye diseases, anxiety and depression.Coffee drinking is protective for BEB.The results suggest that local injury and phychiatrical factors may be more important than genetic factor in the aetiology of BEB.

Objective To assess the classification and characteristics of headaches using the International Classification of Headache Disorders,3rd edition (beta version) criteria in a headache outpatient clinic.Methods In this prospective cross-sectional study,all consecutive patients presenting with headache to a headache outpatient clinic of Peking Union Medical College Hospital between April 1 st,2014 and February 28th,2015 were included.Results The average age of 593 patients was (42.I ± 15.6) years with female-male ratio 1.89∶ 1.Primary headaches were found in 483 (81.5％) patients,of which migraine and tension-type headache were found in 264 (44.5％) patients and 168 (28.3％) patients respectively.Chronic daily headache and new headache were found in 158 (26.6％) patients and 130 (21.9％) patients,while cough headache and thunderclap headache were found in 9 (1.5 ％) patients and 5 (0.8％) patients respectively.Patients with migraine were more likely complicated with medicationoveruse headache than patients with tension-type headache (x2 =4.21,P =0.032).Patients with tensiontype headache were more likely complicated with chronic daily headache than patients with migraine (x2 =18.92,P =0.000).Conclusions In this headache outpatient clinic,most patients were primary headaches.Chronic daily headache and new headache were common,while cough headache and thunderclap headache were uncommon.These headache syndromes should be paid attention to identify the possible underlying malignant etiologies.

Objective To investigate the role of HO-1 in inhibition of oxygen-glucose deprivation (OGD)-induced apoptosis in rat hippocampal neurons by sevoflurane preconditioning.Methods Hippoeanlpal neurons of newborn Wistar rats (<48 h) were cultured in vitro.Tne neurons were randomly divided into 6 groups with 108 wells in each group:control group(group C),2% sevoflurane preconditioning group (group S1),OGD group,S1 +OGD group,4% sevoflurane preconditioning+OGD group (group S2+OGD),and 4% sevoflurane preconditioning+ZnPPⅨ+OGD group(group Z).Group C received no treatment.The neurons were cultured for 24 h after 2% sevoflurane preconditioning in group S1.For OGD experiments,the neurons were placed in deoxygenated glucose-free medium and sealed under 95% N2-5% CO2 in an anaerobic chamber equilibrated to 37℃ and 100%humidity for 45 min.then OGD was terminated by replacement of the stored medium and returning the cultures to a standard incubator maintained at 37℃ in 5% C02 and the neurons were cultured for 24 h as described by Ray et al. The OGD model was established after 2% and 4% sevoflurane preconditioning in group S1 + OGD and S2 + OGD respectively. In group Z, when the neurons were preconditioned with 4% sevoflurane, ZnPPⅨ was added to the culture medium at the same time, and the other procedures were the same as those in group S2 + OGD. The neuron viability, apoptesis rate, and expression of HO-I protein and mRNA were detected at 24 h of culture. Results Compared with group C, neuron viability was significantly decreased,apoptosis rate was significantly increased, and expression of HO-1 protein and mRNA was up-regulated in group OGD, S1 + OGD, S2 + OGD and Z, expression of HO-1 protein and mRNA was up-regulated in group S1 ( P < 0.01 ), but no significant change was found in neuron viability and apoptosis rate in group S1 ( P > 0.05). Compared with group OGD, neuron viability was significantly increased, apoptosis rate was significantly decreased, and expression of HO-1 protein and mRNA was up-regulated in group S1 + OGD and S2 + OGD ( P < 0.01), but no significant change was found in the indexes mentioned above in group Z ( P > 0.05 ). Neuron viability was significantly higher, apoptosis rate lower and expression of HO-1 protein and mRNA higher in group S2 + OGD than in group S1 + OGD ( P < 0.01). Neuron viability was significantly lower, apoptosis rate higher and expression of HO-1 protein and mRNA lower in group Z than in group S2+OGD(P<0.01).Conclusion HO-1 is involved in the inhibition of OGD-indueed apoptosis in rat hippocampal neurons by sevoflurane preconditioning.

Objective To observe the cerebral activation pattern in patients with cervical dystonia (CD) during finger movements and the changes caused by botulinum toxin injection by functional MRI.The possible etiological mechanism of CD and effect of peripheral botulinum toxin treatment on the level of central nerves system are investigated.Methods A designed functional MRI block with complex finger movements was applied and 11 patients with CD as well as 11 age and gender matched controls were scanned.Compare the activation pattern of CD pre/post treatment groups versus health controls.Evaluate and compare the symtom severity with Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS).Make a correlation analysis between activation pattern alteration and TWSTRS change in CD pre/post treatment groups.Results An reduced extent of activation in patients with CD was demonstrated compared to healthy controls in ipsilateral putamen,prefrontal cortex and contralateral somatosensory cortex to the direction of the head deviation,while an elevated extent of activation in ipsilateral precuneus and fusiform with statistic significance.At the time point of 4 weeks after botulinum toxin treatment patients showed no evident difference with healthy controls except for the decreased activation in contralateral precuneus to the direction of the head deviation.TWSTRS of patients with CD decreased from (20.02 ± 5.52) to (4.11 ± 4.34) with statistic significance (t =11.71,P =0.000) after botulinum toxin treatment.There was a positive correlation between cerebral activation pattern change in some cerebral areas (ipsilateral primary somatosensory cortex,premotor cortex,supplementary motor cortex,insula,fusiform,hippocampus with parahippocampa as well as contralateral middle temporal cortex and hippocampus with parahippocampa to the direction of the head deviation) and TWSTRS score decrease.Conclusions There are widespread abnormalities in cortical and subcortical activation pattern in patients with CD,which might due to dysfunction of sensory-motor integration.We speculate a basic pre-dystonic state is present in affected body parts prior to clinical symptoms appear.Botulinum toxin fulfills its subsequent central effect by reorganizing and normalizing the cerebral cortex in patients with CD.

Objective To explore the application value of ultrasound-guided fine needle aspiration biopsy(FNAB) in diagnosing thyroid nodules of TI-RADS 4-6 categories.Methods A retrospective analysis was made on the pathologic data of 494 patients (totally 501 nodules) who underwent TI-RADS ultrasonographic stratification and ultrasound-guided FNAB.168 thyroid nodules of TI-RADS 4-6 categories were selected from 163 patients and classified into three groups:group T,TI-RADS 4A categories;group Ⅱ,TI-RADS 4B category; group Ⅲ,TI-RADS 5-6 category(the pathologically confirmed cases in category 6 had been removed).The ultimate pathologic findings were taken as golden standards to calculate the accuracy,sensitivity,specificity,positive predictive value of ultrasound-guided FNAB in the three groups.ROC curve was drawn to evaluate the diagnostic value of FNAB.Results The accuracy,sensitivity,specificity,positive predictive value of the ultrasound-guided FNAB in the three groups were listed as follows:group Ⅰ 74.4％,73.3％,75.0％,64.7％;group Ⅱ 83.9％,87.5％,71.4％,91.3％;group Ⅲ 89.3％,91.7 ％,75.0％,95.7 ％ respectively.The positive predictive values of the ultrasound-guided FNAB for group Ⅰ and group Ⅱ was higher than that of conventional TI-RADS classification criteria,so the difference was statistically significant; while the positive predictive values for group Ⅲ was close to the conventional ultrasound TI-RADS classification criteria,the difference was not statistically significant.Conclusions The combination application of TI-RADS classification criteria and FNAB can improve the accuracy of ultrasound diagnosis in group Ⅰ and group Ⅱ,and reduce the puncture rate of group Ⅲ.

Objective To summarize the clinical and radiological features of DYT6 dystonia with mutations based on the data of our patient cohort as well as the report by others.Methods Clinical data of the 11 patients with DYT6 dystonia in Peking Union Medical College Hospital from June 2009 to May 2012 were retrospectively reviewed and analyzed.Clinical data included gender,onset age,initiative symptom of onset,the sites of involvemet,family history,etc.All patients were examined for brain MRI scan,6 patients were examined for DTI.Results Of the eleven gene-confirmed DYT6 dystonia patients,7 were male and 4 were female,with an onset-age ranged from 5 years to 36 years,the mean age of onset was 19.4years.Eight patients had a family history.There were 10 patients with early onset dystonia and only 1 patient with late onset dystonia.The most common site of onset was the neck (7/11),and the next was the right arm,1-5 body areas were affected at the time of neurological assessment,the average amount was 2.8,and the most frequently affected anatomical site was the neck (10/11),next came lower face,jaw and tongue.Among all the patients,6 patients presented with segmental dystonia,4 patients presented with focal dystonia,only 1 patient presented with generalized dystonia.All the patients with thanatos-associated protein domain-containing apoptosis-associated protein (THAP) domain affected had a family history,but the patients with the same mutant gene varied with clinical manifestation.Only 1 patients with non-THAP domain affected had a family history,but in most families,there were adult asymptomatic mutant gene carriers.Mutations within the THAP domain were associated with an earlier age of onset than non-THAP domain (17.3 and 21.8 years old).Routine MRI of all patients were normal and DTI of 6 patients showed that fractional anisotropy values in the bilateral sensorimotor area in DYT6 dystonia were reduced.A detailed description of a patient with TOR1A and THAP1 gene mutations was given.Conclusions Early onset dystonia is the main manifestation in patients with DYT6 dystonia in China.The most common site of onset is the neck,and the next is the right arm.The most frequently affected anatomical site is the neck,next come lower face,jaw and tongue.Laryngeal dystonia is absent.The patients with same mutant gene show high heterogeneity in the clinical manifestations,mutations within the THAP domain of THAP1 tend to manifest at an earlier age and higher penetration than mutations localized to non-THAP domain.Reduction of fractional anisotropy values indicates that the axonal integrity and coherence in the region of sensorimotor area is damaged in DYT6 dystonia.