Objective To develop a diabetes risk score (DRS)to predict the risk of development of incident diabetes in male senile people in Beijing. Methods DRS was developed basing on a test group including a cohort of 1 370 individuals aged 48-87 years without diabetes at baseline, followed for 10 years by Logistic regression and validated on a value group including a cohort of 340 individuals aged 43-88 years without diabetes at baseline. Results The model with the highest area under the ROC curve ( AUC ) included age, hypertension,history of hyperglycemia, body mass index, fasting plasma glucose, triglycerides, and high-density lipoproteincholesterol (HDL-C). DRS was developed basing on this model with a range from 0 to 12 and an optimal cut-off of 4. AUC were respectively 0. 726 ( 95% CI0. 692-0. 759 ) and 0. 765 ( 95% CI0. 691-0. 839 ) in test group and validation group. The sum score value ≥4 had sensitivity of 65.3% and 68. 1%, specificity of 70. 0% and 64.8%, positive predictive value of 37.0% and 23.2%, negative predictive value of 88.2% and 94. 1%.Conclusion The DRS, derived from clinical information combined with plasma glucose and lipids, is an effective tool to predict incident diabetes.

Purpose To investigate the diagnosis and differentail diagnosis of metastatic small cell carcinoma of bone in needle biopsy, especially for the differentail diagnosis with Ewing sarcoma of bone. Methods Clinicopathological informations of 11 cases of metastat-ic small cell carcinoma and 20 cases of Ewing sarcoma were collected, and markers for differentail diagnosis were detected in two groups by immunohistochemistry of EnVision. Results The positive rates of CD99 and FLI-1 were 27. 3% and 54. 5% in metastatic small cell carcinoma group, while the positive rate of CK was 15. 0% in Ewing sarcoma group. Patient′s age, single lesion, expression of CK, vimentin, CD99, FLI-1, CD56 were significantly different in two groups. Conclusions Metastatic small cell carcinoma and E-wing sarcoma share similar histopathologic features in needle biopsy, no single immunohistochemical marker can specifically distinguish small cell carcinoma from Ewing sarcouma. The correct diagnosis should comprehensive analyze clinicopathologic characters and a se-ries of immunohistochemical markers.

Objective To compare the analgesia effect and the safety of Flurbiprofen Axetil (FA) and Parecoxib Sodium (PS) after posterior lumbar fusion surgery. Methods 90 patients undergoing internal fixation of lumbar spine randomly assigned to 3 groups:those in Group A(n = 30) received 100 mg of FA; those in Group B (n=30) received 40 mg of PS and those in Group C received saline.The VAS scores of 2, 6, 12, 24, 48, 72 h after operation and the dose of tramadol hydrochloride (TH) used and the side effect was recorded respectively. Results Group A and B had significantly better analgesic effect than Group C(P<0.05). Group A and B had lower average dose of TH than Group C (P<0.05). The VAS scores in Group A was lower than that in Group B in 2 h after the surgery. The VAS scores after the surgery showed no significant difference between Group A and B in 6 , 12, 24 h after the surgery. The VAS scores in Group A was higer than that in Group B in 48,72 h after the surgery. Conclusion Both PS and FA can alleviate postoperative pain and have fewer adverse reactions.

Objective To observe the all-cause and cardiocerebrovascular disease(CCVD)-related mortalities in the senile male population and the relationship of them with fasting plasma glucose (FPG) level.Methods A survey was performed among 1 572 male subjects aged 60-90.All the subjects were groups were calculated by Kaplan-Meier method and the log-rank test was used to compare the survival rates of the 4 groups.Logistic regression model was used to analyze the correlation factors of all-cause mortality and CCVD-related regression model analysis showed that age was related with the all-cause mortality.Among all these factors, age, body mass index, FPG and the history of CCVD had the relationships with the mortality of CCVD.Conclusion In the older male population, CCVD are considered as one of the main causes of death.With the increased levels of FPG, the all-cause mortality and CCVD mortality of senile male population are increased.

Aim To investigate the effect of ASIC1 a ( acid-sensing ion channel 1 a ) on the pathological change of diabetes complication liver fibrosis and the proliferation and activation of hepatic stellate cell ( HSC-T6 ) stimulated by PDGF-BB under hyperglyce-mia. Methods Diabetes rats model was established by streptozotocin ( STZ) , and liver fibrosis rats model was induced by carbon tetrachloride ( CCl4 ) . Then, the liver extent of damage and the expression of ASIC1 a were observed in the diabetic rats, liver fibrosis rats and diabetes complication liver fibrosis rats. In vitro, after pretreated with amiloride, HSC-T6 was treated with high glucose for 24 h and then stimulated with PDGF-BB for another 24 h. The proliferation and acti-vation of HSC-T6 were observed, and the expression of ASIC1a, α-SMA and collagen Ⅰ were detected by Western blot. Results Compared with the control group, rats from diabetic group induced by STZ, liver fibrosis group induced by CCl4 , and the diabetes com-plication liver fibrosis rats co-induced by STZ and CCl4 were all observed with liver damage at different levels, and tissue injury of complication group was most seri-ous. However, the expression of ASIC1a in the three model groups was significantly increased compared to the control group. ASIC1a level was most obvious in the diabetes complication liver fibrosis rats. Amiloride pretreatment significantly decreased ASIC1 a expression and inhibited PDGF-BB mediated proliferation and the expression ofα-SMA and collagenⅠin HSC-T6 under high glucose environment. Conclusion High ambient glucose aggravates HSC activation and hepatic fibrosis, and this may be related with the increasing expression of ASIC1a.

Objective:To study the antihypertensive effect of the extract from compound Prunella vulgaris L. in spontaneous hy-pertension(SH)rats. Methods:Forty SH rats were randomly divided into the model group,high,middle and low dose groups of ex-tract from vompound Prunella vulgaris L. ,the compound kendir leaves tablets Ⅰ group with 8 ones in each. Non-invasive blood pres-sure measurement was used to detect the SBP and DBP of the SHR rats. Then the serum NO,AngⅡ ,ET-1 and ANP content were measured after the eight-week treatment. The pathological changes were observed after kidney HE staining in the SH rats. Results:Compared with that in the model group,the blood pressure in high-dose treatment group,middle-dose treatment group and the positive model group was significantly decreased(P < 0. 05). The AngⅡ and ET-1 levels in high-dose treatment group,middle-dose treatment group and the positive model group were decreased(P < 0. 01),and NO and ANP contents in serum were significantly increased when compared with those in the model group(P < 0. 01). The pathological examination showed that the pathological changes in the model group were faster than those in all the drug-treatment groups,the pathological changes included glomerular and renal tubular atrophy, glomerular vascular wall thickening and renal tubular epithelial cell degeneration or necrosis. Conclusion:The extract from compound Prunella vulgaris L. can reduce blood pressure of SH rats. The mechanism may be associated with the level reduction of AngII and ET-1 and content elevation of NO and ANP.

A 44-year-old pregnant woman (G5P3) who had delivered two children with DMD was admitted and underwent prenatal diagnosis at Peking Union Medical College Hospital in 2019. (1) The karyotype of the fetus in 2019 was 47,XXY. The fluorescence in situ hybridization (FISH) result showed a nucish(CSPX×2, CSPY×1)[100] and multiplex ligation-dependent probe amplification (MLPA) suggested sex chromosome abnormality. Based on the above results, the fetus was diagnosed with Klinefelter syndrome. Fetal short tandem repeat (STR) linkage analysis and Sanger sequencing indicated a heterozygous mutation of c.9543delG(p.Trp3181CysfsTer2). (2) Sanger sequencing of the proband found a novel frameshift mutation of c.9543delG(p.Trp3181CysfsTer2 ) in exon 65 of the DMD gene. (3) The male fetus performing prenatal diagnosis in 2008 was found to have the same maternal gene markers as the proband with the same genotype. While the genotype of the fetus in 2009 obtained a different maternal gene marker from the proband and did not detect the same DMD gene mutation. This fetus was delivered at full term and was good during follow-up. (4) The elder brother and cousin of the proband had the same frameshift mutation in exon 65 of the DMD gene as the proband. The mother of the proband was a heterozygous carrier of the mutation.

Objective To systematically investigate PIK3CA mutations in isolated macrodactyly.Methods Overgrowth tissues from 12 isolated macrodactyly patients who were treated at Department of Hand Surgery,Beijing Jishuitan Hospital from May to August 2017 were collected during operation.There were 6 male and 6 female patients with average age of 4.5 years.DNA was tested for PIK3CA mutation using a targeted Sanger DNA sequencing method.Samples with negative Sanger result were tested with a next generation DNA sequencing(NGS) panel targeting 47 cancer hotspot genes including PIK3CA.Results By targeted Sanger sequencing,PIK3CA mutations were detected in 9 of the 12 patients,with mutation level ranging from 7％ to 27％.The PIK3CA mutations observed were p.His1047Arg,p.His1047Leu,p.Glu545Lys,and p.Glu542Lys.NGS found p.Glu453Lys in one additional patient,allowing the total positive rate to 10/12.All PIK3CA mutations detected in the study were cancer hotspot mutations.Among all tissue types tested,adipose tissue had the highest mutation detection rate (9/9),followed by nerve(10/12) and skin(10/12).Conclusions A high proportion of isolated macrodactyly patients carry a PIK3CA mutation.Adipose,nerve,and skin are ideal tissue resources for PIK3CA mutation detection.Targeted Sanger sequencing with reflex to NGS represents a cost-effective strategy to test PIK3CA mutations in isolated macrodactyly.

Objective To systematically investigate PIK3CA mutations in isolated macrodactyly.Methods Overgrowth tissues from 12 isolated macrodactyly patients who were treated at Department of Hand Surgery,Beijing Jishuitan Hospital from May to August 2017 were collected during operation.There were 6 male and 6 female patients with average age of 4.5 years.DNA was tested for PIK3CA mutation using a targeted Sanger DNA sequencing method.Samples with negative Sanger result were tested with a next generation DNA sequencing(NGS) panel targeting 47 cancer hotspot genes including PIK3CA.Results By targeted Sanger sequencing,PIK3CA mutations were detected in 9 of the 12 patients,with mutation level ranging from 7％ to 27％.The PIK3CA mutations observed were p.His1047Arg,p.His1047Leu,p.Glu545Lys,and p.Glu542Lys.NGS found p.Glu453Lys in one additional patient,allowing the total positive rate to 10/12.All PIK3CA mutations detected in the study were cancer hotspot mutations.Among all tissue types tested,adipose tissue had the highest mutation detection rate (9/9),followed by nerve(10/12) and skin(10/12).Conclusions A high proportion of isolated macrodactyly patients carry a PIK3CA mutation.Adipose,nerve,and skin are ideal tissue resources for PIK3CA mutation detection.Targeted Sanger sequencing with reflex to NGS represents a cost-effective strategy to test PIK3CA mutations in isolated macrodactyly.

Objective:To detect the effect of microRNA-7 ( miR-7 ) knockdown on pathology in murine acute lung injury ( ALI) model,and preliminarily explore its significance.Methods:Murine ALI model was performed by intraperitoneal injection of Li-popolysaccharide (LPS) (10 mg/kg) into miR-7KD mice and wild-type (wild type,WT) mice respectively.Then,the pathologic injury of lung tissue were observed by HE staining.And total cell count of bronchoalveolarlavage(BAL) was calculated.The relative expression of related cytokines in lung tissue was analyzed by Real-time PCR assay.Furthermore,the changes on proportion of innate immune cells (γδT cell and F4/80 macrophages cell) and adaptive immune cell ( CD4+T cell and CD8+T cell) were analyzed by FACS.Meanwhile, the expression of CD62L and CD69,as well as the absolute number,in CD4+T cell were also analyzed.Results: Compared with WT mice,pathological damage in lung tissues was significantly alleviated in miR-7KD mice.Real-time PCR analysis showed that the relative expression of IL-6 was obviously reduced (P<0.01),conversely,relative expression of IL-4 and TGF-βwere obviously increased (P<0.05).Furthermore,the total cell number in BAL also reduced significantly (P<0.05).Importantly,FACS analysis showed that the proportion and the absolute number of F4/80+Mφcells obviously reduced (P<0.05);however,the proportion of γδT cells increased (P<0.05).Moreover,the proportion and the absolute number of CD4+T cells and CD8+T cells were significantly reduced (P<0.05). Finally, the proportion and the absolute number of CD62L+in CD4+T cells were upregulated vigorously,contrastly,the proportion and the absolute number of CD69+in CD4+T cells were notably up-regulated (P<0.05).Conclusion:miR-7 defeciency could significantly ameliorate the pathology of murine ALI,suggesting that it may play an important regulatory role in the development of ALI.