Objective To investigate the relation between CAG expansion length and clinical symptoms in hunting-ton′s disease ( HD) ,and to evaluate the value of CAG age product ( CAP score) in the clinical practice. Methods Two Han Chinese HD family members’ clinical data, including clinical symptoms and signs, the Cambridge cog-nitive examination-Chinese version ( CAMCOG-C) and Hamilton depression rating scale were collected, and these two families pedigree trees were drawn. Volunteers peripheral venous blood was extracted to pursue IT15 genetic test. CAP scores among members whose CAG repeat number was more than 35 were calculated. Results The pedi-gree trees indicated that HD was autosomal dominant inheritance. Among 6 participants who had pursued genetic test,1 was normal and 5 were carring expanded allele; according to fomal clinical diagnosis criteria,2 participants were in manifest period and 3 were in pre-manifest period. Individuals in manifest period had clinical triad,and in-divudals in premanifest period,though hadn’ t been clinically diagnoseded, were characterized by subtle motor,cog-nitive,behavioural or personality changes. Conclusion HD prior to clinical diagnosis may have mild clinical symptoms;the more CAG repeats indicate earlier onset, the heavier the symptoms. CAP score as a parameter, combined with the CAG repeat number and the age, is of great significance for predicting the onset age, clinical tri-al subjects grouping, and give a better understanding of the natural history of HD.

Objective To investigate the cognitive impairment characteristics in Parkinson's disease (PD) with mild cognitive impairment(PD-MCI)as well as their related risk factors.Methods In all of the participants, a battery of neuropsychological tests were selected to identify the cognitive deficits; the 2 cognitive screening tests utilized in this study were the MMSE and the CAMCOG-C; the severity of disease was measured using the Hoehn-Yahr;the motor portion of the UPDRS and Webster scale were used to evaluate motor function and PD-MCI were classified according to modified Petersen's criteria.Results Of the 89 PD cases, 56 (63%) were cognitively normal (PDCOGNL), 20 (22%) had MCI and 13 (15%) met criteria for PD dementia (PDD). The cognitive domain abnormal in PD-MCI was orientation, language, memory, attention, praxis, thinking and perception. The PDCOGNL group had no significant differences in age and PD onset versus the PD-MCI group, but had significant difference in the years of education (PD-MCI:4.4±4.3,PDCOGNL:7.1±4.9;q=3.270, P<0.05); PD-MCI also had no significant differences for all of them versus the PDD, but the PDD group had significant differences for them (q=-4.913, -4.997, 4.740,all P<0.01) compared with the PDCOGNL group; there were no significant differences among 3 groups in years of PD duration. Hoehn-Yahr and Webster scale, UPDRS-motor score had negative correlation with PD cognitive function. Conclusions A stage of clinical cognitive impairment in PD can be defined between PDCOGNL and PDD that characterized as PD-MCI. There are multiple domains impaired in PD-MCI. The risk factors of PD cognitive impairment include the elder, later onset and lower education level. There are negative correlation between the severity of disease, motor function and PD cognitive function.

Objective To cvaluate the efficacy and safety of HabibTM VesOpen intravascular radiofrequency catheter percutaneous radiofrequency ablation combined with TACE in the treatment of portal vein tumor thrombus of primary hepatocellular carcinoma.Methods Thirty-nine patients with primary hepatocellular carcinoma complicated with portal vein thrombosis were treated with HabibTM VesOpen intracavitary catheter ablation combined with TACE.The postoperative success rate,complication,blood index,α-fetoprotein (AFP),portal vein patency and tumor thrombus imaging changes were assessed.Results All of 39 patients underwent surgery successfully without occurrence of perforation,infection,hepatapostema,intra-abdominal hemorrhage nor other complications associated with surgery.Blood routine examinations (WBC,RBC,PLT) after 2 weeks and 4 weeks of surgery had no statistical difference compared with those of preoperation.Liver function indexes including ALT,AST,ALB had statistical difference before and after the surgery except for TBIL.AFP had statistical difference before and after surgery.Doppler ultrasonography after 4 weeks showed blood flow in original blocked portal vein.Enhanced CT or MR examinations after 8 weeks on the abdomen,suggested that tumors were shrinked or disappeared.Conclusion Radiofrequency catheter ablation with intracavitary radiofrequency catheter of HabibTM VesOpen is an effective method in the treatment of portal vein tumor thrombus in primary hepatocellular carcinoma.

Objective To explore the effect of hyperbaric oxygen combined with acupuncture and moxibustion on traumatic peripheral facial nerve injury, and the results of electromyography. Methods From January, 2007 to January, 2013, a total of 160 patients with traumat-ic peripheral facial nerve injury were divided into treatment group (n=80) and control group (n=80). Both groups received routine drug treat-ment. Hyperbaric oxygen combined with acupuncture and moxibustion was applied to treatment group in addition. The clinical efficacy and the results of electromyography were analyzed before and 36 days after treatment. Results After treatment, the cure rate and total efficiency was significantly higher (χ2>7.657, P<0.001), the motor latency of facial nerve was shorter (t>2.214, P<0.05), the M wave amplitude of fa-cial nerve was significantly higher (t>3.116, P<0.01), the number of recruitment potential was more (χ2=9.76, P<0.05), and the motor unit potential voltage was significantly higher (t>5.45, P<0.001) in the treatment group than in the control group. Conclusion Hyperbaric oxy-gen combined with acupuncture and moxibustion is more effective on traumatic peripheral facial nerve injury than routine.

Objective To clone the full-length CDS sequence of LOC 401296 , an undefined gene that we found recently, and to obtain both its expression in eukaryotic cells or E.coli and antiserum to LOC401296 protein.Methods The full-length CDS sequence of LOC401296 was amplified by polymerase chain reaction (PCR).Then we established the expression vectors pET28B-LOC401296 and pCMV-Myc-LOC401296 by cloning the full-length CDS sequence into vector PET28B and vector pCMV-Myc respectively.Isopropyl Thiogalactoside (IPTG) was used to induce LOC401296 expression in E.coli.Furthermore,the protein purified and refolded was used to immunize BALB /c mice.The titer of the antiserum collected from immunized mice was identified by ELISA assay and Western blot .Results We cloned the full-length CDS sequence of LOC401296 was successfully .Protein LOC401296 was expressed as was expected and the mouse anti-human LOC401296 antiserum was obtained .The antiserum titer reaching 1∶64 000 was identified by ELISA .Besides, Western blot analysis showed that the antiserum could be used to detect protein LOC 401296 .Conclusion The full-length sequence of LOC401296 is obtained and the mouse anti-human LOC401296 antiserum becomes available .This study can contribut to further research on the undefined gene LOC 401296 .

[Objective] To explore the effect of wind-expelling and blood-cooling therapy in treating chronic idiopathic thrombocytopenia purpura (ITP) . [Methods] Thirteen cases of chronic ITP differentiated in TCM as heat-induced blood extravasation (group A) were treated with wind-expelling and blood-cooling therapy. The changes of peripheral T-lymphocyte subsets and natural killer (NK) cells before and after treatment were observed and compared with the normal volunteers (group B). [Results] Before treatment, peripheral T-lymphocyte subsets of CD3 and CD4 levels, CD4/CD8 ratio and NK cells count were lower in group A than those in group B while CD8 level was higher ( P

Objective To evaluate the clinical effectiveness and safety of percutaneous transhepatic papillary balloon dilatation (PTBD) combined with laparoscopic cholecystectomy (LC) for concurrent gallstones and common bile duct stones.Methods From Sep 2010 to Dec 2016,23 patients undergoing PTBD + LC were retrospectively compared with 34 cases recieving laparascopic common bile duct exploration (LCBDE) + LC.Parameters included surgical success rate,postoperative complications,residual stone rate,operation time,postoperative anal exhaust time,postoperative hospital stay,and hospitalization expenses.Results In this study 23 patients received PTBD + LC,34 patients received LCBDE + LC.In PTBD + LC group:the operation success rate was 91.3％,postoperative complications (2 cases of pancreatitis,3 cases of pulmonary infection,1 case of incisional infection),and the postoperative residual stone rate was 4.3％.In LCBDE + LC group:surgery success rate was 88.2％,postoperative complications (bile leakage 2 cases,lung infection 2 cases,incisional infection 1 case),postoperative residual stone found in 2.9％;The success rate,postoperative complications and postoperative residual stone rate between the two groups were not statistically different (P ＞ 0.05),nor in operation time,postoperative anal exhaust time,and hospitalization cost (P ＞ 0.05).PTBD + LC group had shorter hospital stay (P ＜ 0.05).Conclusions PTBD combined with LC is effective and safe procedure for the treatment of gallstones and bile duct stones.

Objective:To explore the safety and efficacy of watch and wait strategy and organ preservation surgery after total neoadjuvant treatment for MRI stratified low-risk rectal cancer.Methods:A prospective single arm phase Ⅱ trial developed at Department of Gastrointestinal Cancer, Peking University Cancer Hospital & Institute was preliminarily analyzed. Subjects were enrolled from August 2016 to January 2019. Low-risk rectal cancer with following MRI features were recruited: mid-low tumor, mrT2-3b, MRF (-), EMVI (-), CRM (-), differentiation grade 1-3. Patients received intensity-modulated radiotherapy (IMRT) 50.6 Gy/22f with concurrent capecitabine and 4 cycles of consolidation CAPEOX. Patients with cCR/near-cCR confirmed by physical examination, rectal MRI, endoscopy, and serum CEA were recommended for watch & wait approach or local excision (LE). The main study outcomes were 2-year organ preservation rate (OPR) and sphincter preservation rate (SPR).Results:Thirty-eight patients were eligible for analysis, including 24 males and 14 females with median age of 56 years; 9 cases of mrT2 (23.7%), 14 cases of mrT3a (36.8%) and 15 cases of mrT3b (39.5%); 5 cases of well differentiated adenocarcinoma (13.2%), 32 cases of moderately differentiated adenocarcinoma (84.2%) and 1 case of mucinous adenocarcinoma (2.6%). Carcinoemobryonic antigen (CEA) was elevated before treatment in 1 case. One case (2.6%) of grade 3 radiation dermatitis occurred during IMRT; 18 cases (47.4%) occurred grade 3 to 4 adverse events during consolidation chemotherapy. After total neoadjuvant treatment, the cCR and near-cCR rates were 42.1% (16/38) and 23.7% (9/38), respectively, while non-cCR rate was 34.2% (13/38). Twenty patients (20/38, 52.6%) of cCR or near-cCR underwent watch & wait approach, with a local regrowth rate of 20% (4/20). Four patients received LE, including one salvage LE. Thirteen patients (4 were ypCR) received radical resection, including 10 cases of initial low anterior resections (LAR), 1 cases of initial abdominal perineal resection (APR) and 2 cases of salvage LAR, four patients refused operation. The median follow-up time was 23.5 (8.5-38.3) months. At the last interview of follow-up, the OPR and SPR were 52.6% (20/38) and 84.2% (32/38), respectively. Only one patient developed lung metastasis and no local recurrence occurred after radical resection or LE.Conclusion:Total neoadjuvant treatment for low-risk rectal cancer achieves high cCR/near-cCR rate, with increased probability of receiving watch and wait approach and organ preservation in this subgroup.

Objective:To explore the safety and efficacy of watch and wait strategy and organ preservation surgery after total neoadjuvant treatment for MRI stratified low-risk rectal cancer.Methods:A prospective single arm phase Ⅱ trial developed at Department of Gastrointestinal Cancer, Peking University Cancer Hospital & Institute was preliminarily analyzed. Subjects were enrolled from August 2016 to January 2019. Low-risk rectal cancer with following MRI features were recruited: mid-low tumor, mrT2-3b, MRF (-), EMVI (-), CRM (-), differentiation grade 1-3. Patients received intensity-modulated radiotherapy (IMRT) 50.6 Gy/22f with concurrent capecitabine and 4 cycles of consolidation CAPEOX. Patients with cCR/near-cCR confirmed by physical examination, rectal MRI, endoscopy, and serum CEA were recommended for watch & wait approach or local excision (LE). The main study outcomes were 2-year organ preservation rate (OPR) and sphincter preservation rate (SPR).Results:Thirty-eight patients were eligible for analysis, including 24 males and 14 females with median age of 56 years; 9 cases of mrT2 (23.7%), 14 cases of mrT3a (36.8%) and 15 cases of mrT3b (39.5%); 5 cases of well differentiated adenocarcinoma (13.2%), 32 cases of moderately differentiated adenocarcinoma (84.2%) and 1 case of mucinous adenocarcinoma (2.6%). Carcinoemobryonic antigen (CEA) was elevated before treatment in 1 case. One case (2.6%) of grade 3 radiation dermatitis occurred during IMRT; 18 cases (47.4%) occurred grade 3 to 4 adverse events during consolidation chemotherapy. After total neoadjuvant treatment, the cCR and near-cCR rates were 42.1% (16/38) and 23.7% (9/38), respectively, while non-cCR rate was 34.2% (13/38). Twenty patients (20/38, 52.6%) of cCR or near-cCR underwent watch & wait approach, with a local regrowth rate of 20% (4/20). Four patients received LE, including one salvage LE. Thirteen patients (4 were ypCR) received radical resection, including 10 cases of initial low anterior resections (LAR), 1 cases of initial abdominal perineal resection (APR) and 2 cases of salvage LAR, four patients refused operation. The median follow-up time was 23.5 (8.5-38.3) months. At the last interview of follow-up, the OPR and SPR were 52.6% (20/38) and 84.2% (32/38), respectively. Only one patient developed lung metastasis and no local recurrence occurred after radical resection or LE.Conclusion:Total neoadjuvant treatment for low-risk rectal cancer achieves high cCR/near-cCR rate, with increased probability of receiving watch and wait approach and organ preservation in this subgroup.

Objective: To explore the hemorrhagic transformation(HT) and its effect on prognosis in patients with acute ischemic stroke(AIS) after mechanical thrombectomy(MT). Methods: A total of 114 patients with AIS received MT were enrolled. The modified Rankin Scale was used to evaluate the clinical outcome at 90 days of onset(0-2 points were good prognosis; 3-6 points were poor prognosis). The patients were divided into HT group(n=25) and non-HT group(n=89) according to their HT conditions. Binomial Logistic regression analysis was performed to determine the vascular risk factors of HT after MT and the effect of HT on prognosis. Results: Among 114 patients, there were 25 cases of HT and 89 cases of non HT. The proportion of patients with diabetes in HT group was significantly higher than that in non-HT group. The NIHSS score of HT group at discharge was significantly higher than that in non-HT group. The proportion with good prognosis at 90 days in HT group was significantly lower than that in non-HT group(allP<0.05). Binomial Logistic regression analysis showed that diabetes, high levels of cholesterol and smoking were the major vascular risk factors for HT after thrombectomy(allP<0.05). HT was an important factor affecting the poor prognosis after arterial thrombectomy(P=0.026). Conclusion Diabetes, high levels of cholesterol and smoking are the main risk factors of HT after MT for AIS. HT is an independent risk factor for poor prognosis after MT.