Objective To further explore the relationship between increasing genetic material and clinical manifestation of partial trisomy 5p .Methods G‐banding karyotypes of peripheral blood lymphocytes in the patient and his parents ,and at the same time to summary the partial trisomy 5p clinical performance .Results patient ,46 ,XX ,der(6)t(5 ;6)(p13;q25) mat ;partial trisomy for 5p13→pter resulting from the balanced translocation of the mother .Mother:46 ,XX ,t(5;6)(p13 ;q25);carrier of a balanced 5/6 translocation .Father :46 ,XY .Conclusion The phenotype of trisomy 5p may be associated with express and function of gene at spe‐cial chromosome region .

Purpose To analyze the perfusion differences of different pancreatic diseases using the low-dose whole organ dynamic volume CT perfusion imaging, and to provide the evidence for the clinical application. Materials and Methods Twenty-eight patients suspected as pancreatic disease were applied by 640 layer volume CT perfusion imaging for the pancreas. Data were collected at the same time of bolus injection of contrast agent, then were analyzed by spatial alignment and perfusion calculation using the perfusion software. The time-density curve, blood perfusion flow diagram and tissue artery blood flow were obtained using the maximum slope method. Results Normal pancreatic tissue (n=9) blood flow was (117.04±12.05) ml/(min?100 ml), pancreatitis organizations (6 cases with acute pancreatitis and 3 cases with chronic pancreatitis) (118.67±37.18) ml/(min?100 ml), pancreatic carcinoma tissue (n=10) was (67.16±18.94) ml/(min?100 ml). There was significant difference among three groups (F=8.59, P<0.001);the difference was demonstrated in pancreatic cancer vs. normal pancreas and pancreatic cancer vs. pancreatitis group (q=3.70, P<0.05), which could be clearly demonstrated by blood perfusion flow diagram. The difference was not statistically revealed pancreatitis and normal pancreas group (q=2.91, P>0.05). The total dose of X-rays in the whole scanning process was 21.5-23.9 mSv. Conclusion Low-dose whole pancreas organ CT perfusion scan can quantitatively analyze the hemodynamic changes in pancreatic disease, which be of great value for evaluating changes in microcirculation during the treatment of pancreatic cancer.

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.

Objective To investigate the direct and indirect MRI manifestations of anterior cruciate ligament(ACL)tears and discuss its mechanism and diagnostic value.Methods The study involved 40 patients with ACL tears including 37 males and three females at age range of 16-49 years(mean age of 33 years).Arthroscopy and operation confirmed 28 patients at acute phase of ACL tears,12 at chronic phase of ACL tears,35 with complete ACL tears and five with partial ACL tears.All patients were examined on 1.5T Siemens MRI scanner,with SE,TSE or Medic sequence in multiple directions.The direct and indirect MRI manifestations of ACL tears were retrospectively and statistically analyzed by employing three experienced doctors.Results Among 28 patients with acute tears,the direct MRI signs included signal interruption or non-consecutive(86%),uneven signal(64%)and swelling and thickening ligament(36%).While in 12 patients with chronic teats,the MRI signs manifested swelling ligament(92%),signal interruption or non-consecutive(75%)and uneven signal(58%).The sign of thickening ligament was mainly seen at chronic phase of ACL tears(P ＜0.01).Of 35 patients with complete ACL tears,80% occurred in the middle part of ACL,with low incidence of upper and lower parts.All five patients with partial ACL tears occurred in the anteriomedialis bundle.The indirect MRI signs of ACL tears included 7-shaped deformity of posterior cruciate ligament(PCL)(34 patients,85%),meniscus exposure(26 patients)including 16 with lateral meniscus exposure(62%),bone injury(15 patients)including segond fracture(8 patients,53%),widened joint space(9 patients)including 78% at chronic phase,and tibia antelocation(23 patients,57%).Among 40 patients,37 patients were diagnosed correctly preoperatively,with accuracy rate of 92%.While three patients with partial ACL tears were missed diagnosis preoperatively,with inaccuracy rate of 8%.Conclusion ACL tear is relatively easy to identify preoperatively according to direct and indirect MRI signs in combination with trauma history.

Objective Toinvestigatetheoperativeeffectandsafetyofendovascularstentingfor thetreatmentofsymptomaticvertebralarteryostialstenosis.Methods Fortypatientswithsymptomatic vertebral artery ostial stenosis and stenosis rate ≥70% were admitted to the Department of Neurology, China-Japan Friendship Hospital from November 2010 to January 2013 were enrolled retrospectively. All patients received endovascular stenting therapy,15 of them were implanted bare metal stents,and 25 were implanted drug eluting stents. The technical successful rate of operation,perioperation complications,and symptom remission rate of the patients were analyzed. At the same time,stroke and death incident as well as the related ischemic symptoms of the stent vascular feeding area in the follow-up period (13 to 36 months)wereobservedandtherestenosisratewasdocumented.Results Atotalof42stentswereimplanted in 40 patients,and the technical success rate was 100. 0%. The preoperative stenosis rate of vertebral artery ostial stenosis was 75% to 99%(mean 85 ± 7%);the postoperative stenosis rate was 0% to 20%(mean 6 ± 4%). There was no perioperative complication. The clinical symptoms of 19 patients disappeared completely,16 were improved significantly within the follow-up period,and the symptom remission rate was 87. 5%. No stent vascular feeding area related stroke and death occurred. Four patients had transient ischemic attack in posterior circulation,13 had restenosis after procedure (10 of them with bare mental stents and 3 with drug eluting stents). There was significant difference in restenosis rate between the bare mental stents andthedrugelutingstents(10/15vs3/25,P=0.001).Conclusion Endovascularstentingforthe treatment of the severe symptomatic vertebral artery ostial stenosis is a safe and efficient method. Although its restenosis rate is high,but it can improve the symptom of posterior circulation ischemia effectively.

Objective:To investigate the variation characteristics and influencing factors of HIV/AIDS subtypes in Wuxi city of Jiangsu Province from 2014 to 2016.Methods:HIV/AIDS population in Wuxi city in 2014 was selected as the research object, and the HIV molecular epidemiology and follow-up study were carried out. Collect epidemiological information, extract DNA from blood samples, amplify pol gene fragment by nest-PCR and sequence, use ChromasPro 1.6 software and MEGA 7.0 software to construct the HIV-1 sequence database, and use FastTree2.1.10 software to construct the phylogenetic tree to confirm the subtype; in 2016, the same population was followed up, and the HIV subtype variation was analyzed, and the influencing factors of subtype variation were explored by multivariate logistic regression. Results:A total of 612 HIV/AIDS cases in 2014 and 2016 were collected. The age of the subjects was mainly 30 years old or above (85.46%, 523/612), and the proportion of people over 50 years old was higher (228/612, 37.25%). The main route of transmission was homosexuality, accounting for 49.67%. A total of 1224 samples were detected and CRF01 _ AE、CRF07_ BC、B、CRF08_ BC、CRF67_ 01B、CRF55_ 01B、CRF68_ 01B, 7 subtypes of HIV-1 and 5 unique recombinant types (URFs) was detected. CRF01_ AE and CRF07_ BC was still the main genotype in Wuxi, Jiangsu Province, accounting for 66.75%. There were 29 cases (3.56%) of URFs recombinant strains. During 2014-2016, the variation rate of subtypes was 14.63%, and the most common variation was CRF01_ AE changes to CRF07_ BC(13.95%). Marital status (OR=0.363, 95% CI: 0.137-0.964) and baseline CD4 level (OR=0.414, 95% CI: 0.192-0.891) were associated with subtype variation.Conclusions:The HIV-1 subtypes of HIV/AIDS patients in Wuxi city are diverse and complex, the proportion of recombinant subtypes is rising, the URFs that are difficult to determine the genotype increase significantly, and the variation rate of HIV-1 subtypes among HIV/AIDS infected people is high. It is necessary to strengthen the monitoring of HIV-1 subtypes.

Objective To evaluate the changes in anterior chamber structure of pelvic floor before and after total hysterectomy with transperineal ultrasonography.Methods Forty-five patients who would receive total hysterectomy were enrolled.The structures of the anterior pelvic floor were observed with transperineal ultrasonography 1 day pre-operation and 1,3 and 6 months after operation.The parameters at rest and max Valsalva were recorded and calculated,including the bladder neck-symphyseal distance (BSD),bladder neck descent (BND),urethral rotation angle (UR) and posterior urethrovesical angle (PUA).The changes of the parameters at different time were analyzed statistically.Results BSD at max Valsalva,BND,UR and PUA at max Valsalva at different time were significantly different (all P＜0.05).Compared with those preoperative,BSD at max Valsalva decreased (H=2.627,P=0.009) and BND increased (q=-3.095,P=0.002) 3 months after operation,BSD at max Valsalva decreased (H=4.379,P＜0.001),BND (q=-4.379,P＜ 0.001),UR (H=-2.861,P=0.004) and PUA at max Valsalva (q=-2.686,P=0.007) increased 6 months after operation.The remaining parameters were not significantly different between every two time points (all P ＞ 0.05).Conclusion The changes of BSD,BND at max Valsalva,UR and PUA at max Valsalva occur at the initial period after the total hysterectomy.The total hysterectomy can damage the pelvic floor and early pelvic floor rehabilitation need to he provided.

Objective: To explore the effect of nutritional support based on clinical nursing pathway on nutritional status and quality of life among elderly inpatients with Alzheimer disease (AD). Methods: A total of 101 elderly inpatients with AD who met the criteria of the protocol were consecutively enrolled and randomly divided to study group receiving nutritional support based on clinical nursing pathway for two months (n=51) and control group receiving routine nutritional management for 2 months (n=50). Nutritional risk and quality of life were measured by nutritional risk screening 2002 (NRS 2002) and Quality of Life-Alzheimer's Disease Scale (QOL-AD) respectively before and after nutritional support. Results: Baseline data were comparable between the two groups (all P>0.05). After 2-month nutritional support, compared to the control, the incidence of nutritional risk (36.0% vs 17.6%, P=0.037) and undernutrition (26.0% vs 9.8%, P=0.033) decreased significantly in study group. The score of quality of life in study group were significant higher than that of control group (35.73±5.85 vs 30.76±6.14, P=0.023). Conclusion The nutritional support based on clinical nursing pathway is helpful to improve the nutritional status and quality of life in elderly hospitalized patients with AD.

Objective To observe the surface area temperature of dysmenorrhea rats with cold stagnation syndrome; To compare the different effects of Sanyinjiao (SP6) and Guanyuan (RN4).Methods Forty female SD rats were randomized into control group, model group, Sanyinjiao (SP6) group, and Guanyuan (RN4) group, 12 rats in each group. Whole body freezing method combined with estradiol benzoate injection was used to establish models. Sanyinjiao (SP6) group and Guanyuan (RN4) group received moxibustion at corresponding points for 3 times after modeling. Infrared thermal imaging was used to measure the skin temperature at the surface projection area of Sanyinjiao (SP6) and Xuehai (SP10) and Sanyinjiao-Xuehai lines before and after moxibustion.Results Compared with control group, the temperature gap between double sides of Sanyinjiao-Xuehai lines significantly increased in model group 5-30 min after moxibustion (P<0.05). 30 min after moxibustion, the temperature of right Sanyinjiao significantly decreased in other three groups (P<0.01). Compared with model group, the temperature gap between double sides of Sanyinjiao-Xuehai lines significantly decreased after 5-30 min in Sanyinjiao group (P<0.05), while Sanyinjiao-Xuehai lines significantly decreased after 10-30 min in Guanyuan group (P<0.05). Comparison between two moxibustion groups, the influence of Sanyinjiao group to temperature gap between double sides of Sanyinjiao-Xuehai lines was earlier than Guanyuan group (P<0.05).Conclusion Moxbustion can decrease the temperature gap between double sides of Sanyinjiao-Xuehai lines and ease the imbalance. And the influence of moxbustion SP6 to temperature gap between double sides of Sanyinjiao-Xuehai lines is earlier than moxibustion RN4.

Objective To investigate the correlation between the level of presenilin-associated rhomboidlike protein (PARL) and the sperm motility,survival rate and deformity rate of sperm in workers exposed to aluminum.Methods A total of 162 male workers exposed to aluminum in a large aluminum enterprise in Guangxi were selected as the exposure group,and the 162 staff members of the service company were selected as the control group by matching the age and length of service.The concentration of aluminum in the working environment and the aluminum content in the blood and urine were determined by graphite furnace atomic absorption spectrometry and high performance liquid chromatography.Enzyme linked immunosorbent assay was used to measure the level of PARL protein in sperm and sperm function was evaluated.Results The average concentrations of aluminum in the batching,electrolysis and casting of aluminum exposure group were (6.72± 1.45),(7.23± 1.50) and (7.35± 1.72)mg/m3,which were significantly higher than those of the control group (F=8.314,P＜0.001).The content of aluminum in blood and urine of exposed group were significantly higher than those of control group (P＜0.05),while the levels of PARL of exposed group were significantly lower than those of control group (P＜0.05).Moreover,the sperm survival rate and sperm motility of exposed group were significantly lower than those of the control group,and the sperm deformity rates of exposed group were significantly higher than those of the control group(P＜0.05).Pearson correlation analysis showed that there was a positive correlation of sperm motility,sperm survival rate and protein level of PARL (rsprm motility=0.713,P=0.012;rsperm survival rate =0.628,P=0.008);while the sperm deformity rate and protein level of PARL showed a significant negative correlation (rsperm deformity rate =0.953,P =0.002).Conclusion The sperm function was significantly impaired in aluminum exposed workers,and the changes of sperm motility,survival rate and malformation rate were closely related to the protein level of PARL.