Objective To detect the mutations in coding region of the guanosine triphosphate cyclohydrolase Ⅰ (GCH1) gene in Chinese patients with dopa-responsive dystonia (DRD).Methods Two families with five affected family members and six patients with sporadic DRD were examined, as well as their eighteen relatives and twenty normal members. Mutation screening was performed using single-strand conformation polymorphism analysis followed by direct sequencing of the presumably mutated exons; in patients whose results showed a normal pattern on single-strand conformation polymorphism analysis, the entire coding region of the GCH1 gene was sequenced. To confirm the mutation, a pair of primers was designed, which produced a restrictive site for SphI.Results DNA sequencing revealed a new heterozygous A224G missense mutation (Tyr75Cys) located within exon 1 in one family with autosomal-dominant inheritance. The mutation was confirmed with restriction enzyme analysis; it was not present in 20 control alleles. Restriction enzyme analysis also detects two systematic gene mutation carriers. In patients from the other family and patients with sporadic DRD, no alterations in the translated portion of the GCH1 gene were observed. Direct sequencing also showed that there existed gene polymorphisms in intron 1 and intron 3 which neared the exon2 and exon3 respectively in Chinese.Conclusions We describe a new missense mutation (Tyr75Cys) in the GCH1 gene. Mutation in the coding region of the gene might be accounted for a part of patients with DRD.

Medical charts of tuberculotic patients with secondary autoimmune hemolytic anemia (AIHA) admitted to Peking Union Medical College Hospital (PUMCH)from 2006 to 2015 were retrospectively reviewed.Four cases with complete information of laboratory tests,imaging findings and bone marrow results were included.Therapy regimens and outcomes of survival were followed by phone call if needed.Ages at diagnosis of AIHA were 58-80 years old,hemoglobin levels were 31-73 g/L,Coomb tests were negative in all cascs.Thcrapy of cortical steroid did not work,while anti-TB therapy (including isoniazid,rifampicin,ethambutol) significantly improved hemoglobin to normal level in three cases during six to nine months.One case died within one week,for progressive TB to central neurological system.As one of rarc complications of TB,AIHA may be fatal.Early diagnosis and appropriately anti-TB therapy is helpful for good outcomes.

Zhou Jianren's thinking on sexual morality at the late "May 4th" is profound and prospective.It is of great theoretical significance and practical value to dredge up the spirit of Zhou's thinking on sexual morality to establish a scientific concept of sexual morality and to train students of good character of sexual morality in contemporary university.

Objective To compare the effects of pre-emptive epidural analgesia and postoperative epiclural analgesia on stress response to upper abdominal surgery. Methods Thirty ASA Ⅰ or Ⅱ patients undergoing elective upper abdominal surgery performed under general anesthesia were randomly divided into 2 groups (n = 15 each): Ⅰ pre-emptive epidural analgesia group (group P) and Ⅱ postoperative epidural analgesia group (group C). A mixture of 0.5 μg/ml sufentanil and 0.15% ropivacaine 250 ml was used for epidural analgesia in both groups. The epidural catheter was placed at T_(10-11) interspace. The epidural regimen included a loading dose of 15 ml followed after 30 min by continuous epidurai infusion at 5 ml/h for 50 h. In group P the epidural analgesia was started at 20 min before skin incision, while in group C after operation when the patients emerged from general anesthesia and were extubated. The depth of general anesthesia was monitored using CSI and maintained at 45-55. Vcnoas blood samples were taken before epidnral catheter was placed (T_0, baseline), at 2 h (T_1) and at 18 h (T_2) after operation for determination the concentrations of ACTH and cortisol (Cor) and C reaction protein (CLIP). Results Blood Cor, ACTH and CRP concentrations were significantly increased after operation as compared with the baseline values at T0 and were significantly lower at T_1 and T_1 in group P than in group C. Conclusion Pre-emptive epidural analgesia can more effectively inhibit stress response than postoperative epidural analgesia to upper abdominal surgery.

Objective To investigate the influence of laparoscopic resection of colorectal cancer on (postoperative) micrometastasis of tumor cells.Methods Using cytokeratin,CK-20 mRNA as target gene,the RT-PCR method was used to examine the pre-and post-operative changes in the number of tumor cells in the peripheral blood of 48 cases of colorectal cancer.Results After operation,the number of tumor cells in(peripheral) blood was significantly higher in the laparoscopic surgery group as compared to that of traditional(laparotomy) operation group(P0.05),but was significantly related to positive rate of proliferating cell nuclear antigen(PCNA)(P

Objective:To explore the closed fog mirror in evaluation of velopharyngeal incompetence. Methods:A self-developed closed fog mirror was and used to evaluate for the velopharyngeal compentence and to determine the extent of velopharyngeal compentence according to the map on the fog mirror from nasal air emission and to grade the velopharyngeal compentence from the shape and size of the fog on the mirror. Then choose the right treatment method: speech therapy or pharyngoplasty. Results:The closed-fog-mirror determined different types of velopharyngeal compentence. Conclusion:The closed fog mirror is simple and objective in evaluation of velopharyngeal incompetence.

Objective To study the relationship of fatty acid binding protein-2(FABP2)and apolipoprotein E(ApoE)with coronary heart disease(CHD)in type-2 diabetes mellitus(T2DM)patients.Methods FABP2 and ApoE gene polymorphisms were detected by PCR-RFLP.At the same time all CHD in T2DM patients' serum triglyceride(TG),total cholesterol(TC),high-density lipoprotein cholesterol were(HDLC),low-density lipoprotein cholesterol(LDLC)were detected.Results The T-allele frequencies of FABP2 were higher(P

Objective:The purpose of this study is to investigate the feasibility of labeling skin of inner mongolia cashmere goats with BrdU,and to optimize its immunohistochemical conditions.Methods:We injected different dose of BrdU into the neck vein of cashmere goats,then we took samples from the back skin of the goats,fixed in 4% paraformaldehyde.Next the samples were embedded with paraffin and sectioned.We examined the samples with immunohistochemical technology to test the effect of the influencing factors to labeling results as the BrdU injection,such as dosage,the concentration of second antibody and streptavidin-peroxidase,the way of antigen pretreatment,and DNA denature temperature.Results:We observed red BrdU positive cells in labeled goats whereas not in the control.Meanwhile,in the samples of the unlabeled goats or those incubated with PBS,no nuclear staining is observed.Conclusion:BrdU can be used for labeling of inner mongolia cashmere goats in vivo,which have no obvious dosage effect.The best condition of labeling is that puttig the section in 2 mol/L HCl 30 min at 37℃,in trypsin 30 min at 37℃.The most appropriate concentration of biotin-conjugated second antibody and streptavidin-peroxidase is 1∶100,under which the results of immunohistochemical are the best.

Objective:To study the effect of articulation disorder on psychology action of cleft palate patients after operation.Methods:65 patients were asked to answer the psychology questionnaire.Results:The patients of misarticulation all have some degree of psychological disability,and unusual psychology action would affect pronunciation treatment.Conclusion:Patients with misarticulation have psychology problems in some degree,which would affect the clinic treatment of cleft palate.

Objective:To investigate the articulation characteristics of /n/ and /l/ consonant disorder and seek for a therapy method.Methods:Listening judge and sound examine were used to investigate the category and /n/ and /l/ consonant's word groups and sentences for 16 patients.Chinese articulation and articulation pathology study were conducted.The new method of articulation therapy including tongue movement training, articulation training of consonant /n/ and /l/.The therapy was performed 3 times a week, 40 min for each time. Results:After treatment the speech intelligibility of the 16 patients increased from 75.8% to 98.8%, /n/ and /l/ consonant's intelligibility increased from 45.0% to 98.1%.Conclusions:The therapy is effective in the improvement of speech intelligibility,especially in articulation of consonant /n/ and /l/.