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 .

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.

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 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 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 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 investigate the prevalence of nutritional risk and application of nutritional support among elderly hospitalized patients.Methods:Elderly hospitalized patients from Peking Union Medical College Hospital (PUMCH) were consecutively enrolled from Feb 2016 to Feb 2019. Nutritional risk was measured by using nutritional risk screening 2002 (NRS-2002) within the first 24h after admission. Body weight (BW), body mass index (BMI), grip strength (GS), lean body mass (LBM), body fat (BF) and dietary intake were measured and compared between the patients at risk and not at-risk. Nutritional support was evaluated on 14th day of admission or the discharge day. The relationship between nutritional risk and nutrition support was analyzed.Results:A total of 428 elderly hospitalized patients who met entry criteria and obtained informed consent were consecutively enrolled. The prevalence of nutritional risk (NRS score≥3) was 57.9% (248/428), and it increased significantly with age ( χ2 value was 39.11, P<0.05). Compared to not at-risk group, body weight ( t value was 3.405, P<0.01) , BMI ( t value was 2.715, P<0.05) , GS ( t value was -0.975, P<0.05) , BF% ( t value was 2.934, P<0.05) , LBM ( t value was 1.570, P<0.05) , 75% target energy intake ( χ2 value was 22.55, P<0.01)and 75% target protein intake ( χ2 value was 25.91, P<0.01) were significantly decreased in those of at risk group. There were 62.5% patients at nutritional risk and 19.7% not at-risk which received nutrition support. The average ratio of EN and PN was 1.0∶0.6. Conclusions:NRS-2002 might be used for nutritional screening among elderly inpatients. A large proportion of elderly inpatients were at nutritional risk. The nutritional status of elderly patients in different disease states is different, which deserves attention. The application of EN and PN was some inappropriate in these inpatients, and evidence-based nutritional support guideline is needed to improve this situation.

Objective:To explore the effect of nurse-led multi-disciplinary team management on postoperative gastrointestinal function and nutritional status in elderly colon cancer inpatients.Methods:A total of 75 elderly inpatients after colon cancer operation who met eligibility criteria and signed informed consent form were randomized into study (n=37) or control group (n=38), receiving nurse-led multi-disciplinary team management or routine nursing for 6 months, respectively. The gastrointestinal function, days of postoperative hospital stay, body weight, body composition and dietary intake were compared between the two groups.Result:Compared to the control group, time to defecation (t=14.79, P<0.01), time to initiation of liquid diet intake (t=6.80, P<0.01), time to initiation of semi-liquid diet intake (t=10.78, P<0.01) and days of postoperative hospital stay (t=8.76, P<0.01) in the study group were significantly shortened; and body weight [(59.44±6.12)kg vs. (62.54±6.41)kg, P=0.004], BMI [(19.02±4.13)kg/m 2 vs. (19.98±3.98)kg/m 2, P=0.025], body fat percentage [(20.03±3.55)% vs. (21.34±3.68)%, P<0.01], lean body mass [(19.63±3.44)kg vs. (21.45±3.16)kg, P<0.01], grip strength [(21.65 ± 3.56) kg vs. (22.48 ± 3.81) kg, P=0.011], attainment rate of 75% target energy intake (65.8% vs. 86.5%, P=0.036) and attainment rate of 75% target protein intake (57.9% vs. 83.8%, P=0.014) were significantly improved in study group 6 months after operation. Conclusion:The nurse-led multi-disciplinary team management can effectively improve the postoperative recovery of gastrointestinal function and the long-term nutritional status in elderly patients with colon cancer.

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.