Female ; Humans ; Infant, Newborn ; Mandibulofacial Dysostosis

Objective To report the spectrum of electron transfer flavoprotein dehydrogenase (ETFDH)gene mutations in 20 Chinese RR-LsM families.Methods Twenty-four RR-LSM patients in the First Hospital of Peking University from January 2003 to May 2010 were collected and the clinical characteristics were analyzed.These patients came from 20 families in North Mainland China.Sixteen families had 1 patient each.and the other 4 families had 2 patients.ETFDH gene analysis was performed in all patients,11 family members and 100 healthy controls.Results The mean onset age was(27.9±9.9)years.The main symptoms were limb weakness(21,87.5%),dysmasesia(15,62.5%),neck weakness (14,58.3%)and myalgia(14,58.3%).Eighteen patients had high level of acyleamitine.Fifteen of 17patients had glutaric aciduria.Seventeen ETFDH mutations,including 13 missense mutations,2 splice mutations,and 2 nonsense mutations,were identified in 19 families:c.998A>G,c.1450T>C,c.1703T>C,c.1717C>T,c.821G>A,c.643G>A,c.251C>T,c.1763A>T,c.IVS7+2T>C and c.IVS6+1G>A were Hovel mutations which were not found in 100 healthy controls.Nine families had the mutation of c.770A>G(P.Y257C)and 5 families had the mutation of c.1227A>C(P.L409F).Conclusions The numerous novel mutations in ETFDH gene indicate that Chinese RR-LSM might have special mutation pattern.c.770A>G(P.Y257C)and c.1227A>C(p.L409F)may be hot spot mutations in North Mainland China.

AIM:To evaluate the efficacy and safety of methazolamide in treating refractory uveitic macular edema.METHODS: Retrospective self-controlled study was designed.A total of 15 patients (20 eyes) with refractory uveitic macular edema which used methazolamide as adjuvant therapy were enrolled in Shanghai First People`s Hospital from January 2015 to June 2016.The changes of central macular thickness (CMT) and best corrected visual acuity (BCVA) were observed at baseline and 2, 4, 8wk after treatment.We also focused on the incidence of complications and relapse.RESULTS: The CMT was 445.95±154.10μm, 338.83±138.34μm, 251.50±40.20μm, 244.90±35.68μm at baseline, 2, 4 and 8wk after treatment, respectively.The differences among them were statistically significant (F=15.467, P<0.05).The BCVA (log MAR) were 0.40±0.17, 0.28±0.21, 0.19±0.20, 0.18±0.21 at baseline, 2, 4 and 8wk respectively, with a significant difference among them (F=5.208, P<0.05).When the cumulative dose reached to 700mg and 1400mg, no one had methazolamide-related complications;and when it came to 2800mg, 5 patients (33%) had methazolamide-related complication.After the withdrawal of methazolamide 1wk, 1 and 3mo, 3 patients (20%), 5 patients (33%) and 8 patients (53%) relapsed, respectively.CONCLUSION: Methazolamide is beneficial in improving macular edema and vision in 4wk.When the cumulative dose is more than 1400mg, we need pay attention to the complications.After discontinuing methazolamide for 1wk, macular edema relapsed in some patients, and more than half of patients recurred after 3mo.So the patients should be followed closely in 3mo after withdrawal of methazolamide.

Acupuncture Analgesia ; Animals ; Central Nervous System ; metabolism ; Electroacupuncture ; Nitric Oxide ; metabolism ; Pain Threshold ; physiology ; Rats ; Rats, Wistar

The quality of traditional Chinese medicines (TCMs) has been mainly evaluated based on chemical ingredients, yet recently more attentions have been paid on biological ingredients, especially for pill-based preparations. It is a key approach to establish a fast, accurate and systematic method of biological ingredient analysis for realization of modernization, industrialization and internationalization of TCMs. The biological ingredient analysis of TCM preparations could be abstracted as the identification of multiple species from a biological mixture. The metagenomic approach based on high-throughput-sequencing (HTS) and big-data-mining has been considered as one of the most effective methods for multiple species analysis of a biological mixture, which would also be helpful for the analysis of biological ingredients in TCMs. Simultaneous identification of diverse species, including the prescribed species, adulterants, toxic species, protected species and even the biological impurities introduced through production process, could be achieved by selecting appropriate DNA biomarkers, as well as applying large-scale sequence comparison and data mining. By this approach, it is prospective to offer an evaluation basis for the effectiveness, safety and legality of TCM preparations.
Biological Products ; chemistry ; Data Mining ; High-Throughput Nucleotide Sequencing ; Medicine, Chinese Traditional ; Metagenomics ; methods

Objective To report 2 cases of Fabry disease with early-onset ischemic stroke and investigate the clinical and image features. Methods The 2 patients developed dizziness, diplopia and progressive memory decline at 32 and 25 years of age respectively. The α-galactosidase A (GLA)activity was 4. 3 U in case 1 and 1. 0 U in case 2 ( normal range 100-500 U). Skin biopsy showed numerous membrane bounded osmiophilic laminar material in vascular smooth muscle cells and endothelial cells. GLA gene analysis revealed GLA exon 7 1033-1034 TC del in case 1 and GLA exon 3 466G ＞ A in case 2. The 2 patients were evaluated by Mainz severity score index (MSSI) and cranial MRI. Results The general MSSI was 32 in case 1 and 16 in case 2, with the highest score of neurological score ( 11 and 14). Both cases showed multifocal infarcts in bilateral cerebellum, occipital lobe, basal ganglia, which were hypointensity on T1 WI and hyperintensity on T2WI. There were hyperintensity changes in the pulvinar and basal ganglia on T1 WI in case 2. Conclusions Cerebral ischemic stroke could appear as initial symptoms in Fabry disease,which predominantly involved the posterior circulation. There might be no dilation of basal-vertebral artery.

Objectives To analyse the clinical and MRI features of cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL) in mainland China and compare these features with those reported in other countries.Methods All 26 CADASIL families were collected in First Hospital of Peking University from January 2003 to October 2009, and the diagnosis was confirmed by ultrastructural examination or Notch3 gene analysis.The age of onset, initial symptoms, main symptoms in 102 patients were described and the features with those reported in Germany, Japan, Arab and France were compared using x2 test.The cranial MRI changes in 35 patients were analysed and compared with the British and French patients.Results 102 patients had their initial symptoms between 22-80 years with the mean age of onset at (43.9 ± 11.0) years.There was no significant difference in the frequency of ischemic stroke or TIA (79.41% ) between our patients and the patients in other countries.Dementia rate (50.00% ) was significantly greater than that of Arab (21.05% ,x2 =5.513, P =0.020) and French patients(31.11%,x2 =4.517, P =0.034).The frequency of mood disturbances ( 14.71% ) was significantly lower than that of German patients (30.39% ,x2 =7.185, P =0.007).The frequency of migraine ( 13.73% ) was similar to that of France but lower than that of Japan (40%, x2 = 12.658, P = 0.000), Germany (38.24%, x2 =15.932, P=0.000) and Arab (42.11% ,x2 =6.869, P=0.009).Cranial MRIs were abnormal in all 35patients, but no lesion was seen in the medulla oblongata.Lacunar infarcts in the basal ganglia (82.86% )were significantly more frequent than that of French patients (60% , x2 = 5.663, P = 0.017).The frequency of leukoaraiosis in the cerebrum was similar to that of French patients.Anterior temporal involvement (68.57%) was significantly lower than of British patients ( 95%, x2 = 5.211, P = 0.022 ).Conclusion The clinical symptoms and MRI changes of CADASIL in different countries were not identical.Abnormal anterior temporal pole signal on MRI is not a sensitive marker for diagnosis of CADASIL in Chinese patients.

The major satisfaction of college students will influence their learning interest and motivation, and then influence their learning achievement and future employment. Under the guidance of the concept of the micro system engineering of the education reform, the degree of the major satis-faction of the students in TCM colleges is analyzed by SIMPP method. The results show that students' behavior mode such as their preview situation, teaching adaptation, course satisfaction, students' achievement and their attitude of poor academic performance is closely related to the degree of major satisfaction. Teachers can judge the degree of major satisfaction by following these pattern behaviors;improve the rationality and accuracy of the degree of major satisfaction.

The influence extent of students from teachers is related to the teaching effect , which means whether it can successfully promote the study of students and reach the expected teach-ing goal during the teaching process. To have a good teaching effect, guided by the micro-system en-gineering of teaching reform, we used SIMPP to analyze the related factors of the influence of students extent from teachers during the teaching process in TCM colleges and universities. The result shows that the influence extent from teachers is related to not only teachers themselves but students and their self-condition and family backgrounds as well. Going further in researching these factors and the related behavior patterns of influence extent of students from teachers is helpful to making the teach-ing more effective and more targeted.

Objective To explore the mediator effect of coping styles in relationship between hope level and subjective well-being of empty-nesters in urban community.Methods 208 empty-nesters were tested with Herth Hope Scale,Coping Style Questionnaire and Subjective Well-Being to investigate the influence and the pathways of hope and coping styles on subjective well-being with structural equation modeling.Results Influence of hope level on subjective well-being of empty-nesters in urban community accorded with completely-mediated model (x2/df =1.971,GFI =0.955,AGFI =0.911,RMSEA =0.068),and influence of hope level mediated by positive coping styles accounted for 41.76％(Z=3.692,P＜0.01).Conclusion The influence of hope level on subjective well-being is mediated mainly by positive coping styles for empty-nesters in urban community.