Objective To investigate the relative factors of insulin resistance(IR)during elective abdominal surgery and the mechanism of IR induced by surgery.Methods Fourteen patients underging elective abdominal surgery were studied.Fasting blood glucose(FBG),fasting plasma insulin(FPI),plasma TNF-α,IL-6 and CRP were tested for elective surgery patients on the day before,during operation and on one day after surgery.Insulin resistance index(HOMA-IR)and the index of insulin secretion(HOMA-β)were ealculated with homeostasis model assessment(HOMA).Insulin receptor and GLUT4 mRNA expression in skeletal muscle were assessed before operation and at the end of operation by use of RT-PCR.Results Significant differences were found in fasting blood glucose (5.95±1.08)mmol/L vs(8.92±2.41)mmol/L,fasting plasma insulin(19.95±3.33)mU/L vs(25.44±5.36)mU/L,IL-6(33.98±5.01)ng/L vs(45.29±7.81)ng/L and plasma TNF-α(86.70±9.27)ng/L vs(114.46±15.33)ng/L during and after operation(P＜0.01).A significant elevation of HOMA-IR levels was found after operation compared with that before operation[(9.59±2.89)vs(4.111.86)](P＜0.001).However there wag no significant difference in HOMA-β among three points(groups)of time(P=0.103).The result of RT-PCR showed that the expression of GLUT4 in muscle of patients at the end of operation reduced significantly compared with preoperation(t=12.488,P＜0.001)but there was no significance in INSR mRNA expression(P=0.165).ISI showed negative correlation with opermive time(r=-0.736、P＜0.001),blooding during operating (r=-0.594、P=0.032)and post-operative TNF-α(r=-0.641、P=0.018).Conclusion Insulin resistance occurs in elective abdominal surgery patients.The defective site is at postreceptor.To shorten the operation time,control the intensity of surgery and reduce the bleeding is helpful for decreasing IR.

ObjectiveTostudytheincidenceandclinicalcharacteristicsoftheco-infectedsexuallytransmittedinfections(STI)inpatientswithgenitalherpes.MethodsTheclinicaldataof287caseswithherpeticlesionsorpatientswithsuspectedherpeslesionswerecollected,andthepathogensofsexuallytransmittedinfectionsweredetected.ResultsGenitalherpeswasconfirmedin64.8%(186/287)oftherecruitedcases.HIVantibodiesweredetectedin68cases,andnoHIVantibodywasdetected.Theco-infectionssuchascondylomaacuminatum,activeorlatentsyphilis,genitalcandidiasisandotherSTIswerediscoveredin23.1%(43/186)ofpatientswithgenitalherpes.Allgenitalherpescasesco-infectedwithotherSTIswerecausedbyHSV-2.ConclusionTheco-infectionsarecommoninpatientswithgenitalherpes,andthefeaturesofthelesionsmaybechangedbytheseco-infections.

OBJECTIVETo investigate the clinical effect of modified Koyanagi technique with coverage by tunica vaginalis of testis in severe hypospadias.

METHODS49 cases with severe hypospadias treated from Jan. 2009 to Sep. 2011 were retrospectively studied. 25 patients underwent Koyanagi technique with coverage by tunica vaginalis of testis. 24 cases underwent one-stage Duplay + Duckett technique in the same term. The patients were followed up for 7-24 months.

RESULTSAmong the 25 children treated with Koyanagi procedure, 20 cases were cured, 5 patients had postoperative complications, including urethral fistula in 3 cases,urethral stenosis in 2 cases. At the same time, in the Duplay + Duckett group, 17 cases were cured, 7 children had postoperative complications, including urethral fistula in 4 cases, and urethral stenosis in 3 cases. All the patients with urethral fistula were repaired successfully 6 months after the first surgery; The urethral stenosis were cured by dilatation within 1 to 3 months. The successful rate in the 2 groups had no significant difference(P >0.05).

CONCLUSIONSKoyanagi technique with coverage by tunica vaginalis of testis is relatively simple with similar effect as Duplay + Duckett technique for severe hypospadias.

Child ; Child, Preschool ; Humans ; Hypospadias ; surgery ; Male ; Postoperative Complications ; etiology ; therapy ; Retrospective Studies ; Surgical Flaps ; transplantation ; Testis ; surgery ; Urethral Diseases ; etiology ; therapy ; Urethral Stricture ; etiology ; therapy ; Urinary Fistula ; etiology ; surgery

Objective:To investigate the current situation of economic income and quality of life of patients with Kashin-Beck disease (KBD) , and to analyze the impact of different economic levels on quality of life of patients with KBD, and to provide evidence for selection of target and key populations setting of poverty alleviation in KBD area.Methods:The anrual family income and quality of life of adults with KBD in Yongshou County and Linyou County, Shaanxi Province were investigated from May 2017 to May 2019. Patient's quality of life were evaluated using Chinese version of European five-dimensional five-level health scale (EQ-5D-5L) and its utility value conversion system was used to calculate the EQ-index. The ratio of income difference to quality of life difference in different income KBD patients was calculated.Results:A total of 290 patients with KBD participated in the survey. The average annual income of families with KBD was 11 462.41 Yuan of which the average annual income of low (< 5 000 Yuan), medium (5 000 ~ 10 000 Yuan) and high-income (> 10 000 Yuan) groups was 2 663.48, 9 262.75 and 28 397.26 Yuan, respectively. The ratios of income difference to quality of life difference between low-income and medium-income groups (109.99 × 10 4, 94.28 × 10 4, 94.28 × 10 4) were bigger than the ratios of income difference to quality of life difference (55.94 × 10 4, 91.91 × 10 4,-3.20 × 10 3) between low-income and high-income groups in terms of mobility, usual activity, and EQ-index. The ratios of income difference to quality of life difference were negative in terms of self care, anxiety/depression and VAS score (- 131.99 × 10 4,-65.99 × 10 4,-65.99 × 10 3). Conclusions:Patients with KBD have low income level and large income gap. The KBD patients whose annual income less than 10 000 Yuan could be the key population of poverty alleviation, and family income level of more than 10 000 Yuan could be the target of poverty alleviation.

Objective:To evaluate the life quality of patients with Kashin-Beck disease (KBD), and to analyze its influencing factors.Methods:From September 2017 to May 2019, adult KBD patients aged 18 years old and over were selected as the study subjects in the historical serious disease areas (Yongshou County and Linyou County) of KBD in Shaanxi Province. KBD patients were investigated by using the basic information questionnaire and the Chinese version of the European Five-dimensional Five-level Health Scale (EQ-5D-5L), the distribution of health status in the five dimensions of mobility, self-care ability, daily activity, pain/discomfort, and anxiety/depression were described, and each dimension included five levels of no problem, mild problem, moderate problem, severe problem, and extreme problem. EQ index (- 0.391 - 1.000) was used to evaluate the quality of life of patients based on group perspective, the higher EQ index was, the better life quality of the group would be; visual analogue system (VAS) score (0 - 100 points) was used to evaluate the life quality of patients based on individual perspective, the higher VAS score was, the better life quality of the individual would be. At the same time, multiple linear regression analysis was used to analyze the life quality of KBD patients.Results:A total of 245 KBD patients were included, aged (60.37 ± 7.10) years old. The mild problems of self-care ability and anxiety/depression of KBD patients, accounted for the largest proportion, which were 31.8% (78/245) and 27.3% (67/245), respectively; in terms of daily activity, the moderate problem accounted for the largest proportion, which was 32.7% (80/245); in terms of mobility and pain/discomfort, the severe problem accounted for the largest proportion, which were 46.9% (115/245) and 45.7% (112/245), respectively. EQ index [median (quartile range)] was 0.311 (0.059, 0.563), and VAS score was 42.5 (30.0, 60.0) points. After multiple linear regression analysis, the effects of education level, pain level, body deformity inferiority complex, and social participation barrier on EQ index were statistically significant ( P < 0.01); the effects of economic level, pain level, body deformity inferiority complex, and social participation barrier on VAS score were statistically significant ( P < 0.05). Conclusion:The life quality of KBD patients is poor, it is affected by physical, psychological and social aspects, so relevant medical workers should pay attention to the overall health of KBD patients.

Portal vein thrombosis (PVT) is one of the most common complications of liver cirrhosis. Due to coagulation disorder and the risk of bleeding in liver cirrhosis, there are many controversies over the treatment of liver cirrhosis with PVT in clinical practice. Common therapies for PVT include anticoagulant therapy, intervention, and thrombolysis. This article elaborates on the current status of the treatment of liver cirrhosis with PVT, in order to provide help for the development of standard and reasonable clinical treatment strategies.

OBJECTIVETo analyze mutations in a pedigree of familial hemophagocytic lymphohistiocytosis (FHLH) from Sichuan and provide genetic counseling for the family.

METHODSClinical data of a case with FHLH diagnosed at West China Second Hospital was retrospectively analyzed. Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Eight candidate genes for primary HLH were amplified with PCR and analyzed by direct sequencing.

RESULTSThe proband was diagnosed as HLH based on clinical manifestations of recurrent fever for 2 months, hepatosplenomegaly, lymphadenopathy, pancytopenia, hyperferritinemia, and decreased fibrinogen and hemophagocytosis in bone marrow. Genetic testing for primary HLH was carried out considering the relapse of illness after hormone therapy for 8 weeks and the family history. The results of gene sequencing showed that the proband has carried compound heterozygous mutations in PRF1 gene (c.1349C> T in exon 3 and c.445G> A in exon 2). His father has carried a heterozygous mutation (c.445G> A in exon 2) and nonsense mutation (c.900C> T in exon 3), and his mother carried a heterozygous mutation (c.1349C> T in exon 3). Both c.1349C> T and c.445G> A have been previously reported as pathogenic mutations.

CONCLUSIONThe family has been diagnosed as familial HLH type 2 based on clinical and laboratory examinations and molecular genetic testing. Gene sequencing has indicated that is was a recessive type familial HLH.

Base Sequence ; DNA Mutational Analysis ; Exons ; genetics ; Family Health ; Female ; Genes, Recessive ; genetics ; Genetic Predisposition to Disease ; genetics ; Heterozygote ; Humans ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; genetics ; Male ; Mutation ; Pedigree ; Perforin ; genetics ; Phenotype ; Polymerase Chain Reaction ; Retrospective Studies

Objective To evaluate the efficacy of non-invasive prenatal screening (NIPS) in the detection of fetal aneuploidies.Methods Cell free DNA was sequenced in 5 566 pregnant women to identify the fetal aneuploidies in the First Affiliated Hospital of Zhengzhou University from January 1st,2015 to March 15th,2016.Among them,5 230 (93.96％,5 230/5 566) were singleton pregnancies and 336 (6.04％,336/5 566) were twin pregnancies.In singleton pregnancies,1 809 (34.59％,1 809/5 230) were women with advanced maternal age,and 3 421 (65.41％,3 421/5 230) were young women.The positive results of NIPS were validated by karyotyping through invasive procedures and neonatal outcomes were followed up by telephone.Results Among the 5 566 women,69 (1.24％,69/5 566) got positive NIPS results,with 66 in singleton pregnancies and 3 in twin pregnancies.Two were monochorionic diamniotic twins and 1 was dichorionic twin pregnancy.The positive predictive value of NIPS for trisomy 21,18 and 13 were 100.0％,90.9％ and 100.0％,and was 55.6％ for sex chromosome aneuploidies.There was no false negative case found during the follow-up.In the advanced maternal age group and young women group,the prevalence rates of fetal chromosomal aneuploidies were 1.11％ (20/1 809) and 0.94％ (32/3 421),respectively.In the young women with soft markers in fetal ultrasound,the prevalence of fetal chromosomal aneuploidies was 1.44％ (7/487),and in serum high risk women,it was 0.94％ (7/747).In women with the serum screening risk with cut-off value,0.89％(9/1 016) had fetal aneuploidies,and the prevalence was 0.77％(9/1 171) in volunteers.There was no statistically significant difference among these groups (P=0.636).Conclusions There is no difference in the detection rate of fetal aneuploidies between high-risk women in serum screening and volunteers in NIPS.NIPS is more suitable as a first line screening test for women without fetal ultrasound abnormalities.It should be used carefully when there is ultrasound abnormalities.

Objective To investigate the value of next-generation sequencing (NGS) technique for genetic analysis of spontaneous abortion. Methods From January to June 2017, 154 patients who visited the First Affiliated Hospital of Zhengzhou University for spontaneous abortion were enrolled. All abortion tissue samples were analyzed by both NGS combined with short tandem repeat (STR) and single nucleotide polymorphism array (SNP-array). Results of the two methods were compared by Chi-square or Fisher's exact test. Results (1) Chromosomal abnormalities were detected in 109 of the 154 cases (70.7%), including 52 (47.7%) of numerical chromosomal abnormalities, 49 (45.0%) of structural chromosomal abnormalities, six (5.5%) of mosaicism, and two (1.8%) of uniparental disomy (UPD). In those 52 cases of numerical chromosome abnormalities, there were 45 of chromosome aneuploidy and seven of polyploidy. The top three numerical chromosomal abnormalities were 45,X (27.0%, 14/52), trisomy 22 (9.6%, 5/52) and trisomy 16 (7.7%, 4/52). Forty-nine structural abnormality cases carried 67 copy number variations (CNV), including 13 pathogenic CNV (pCNV, 19.4%), 24 variants of unknown clinical significance (35.8%) and 30 benign CNV (44.8%). In those 13 pCNVs, two were responsible for microdeletion and microduplication syndromes. (2) SNP-array was successful in 152 cases, but failed in two (1.3%) due to genomic DNA <200 ng. However, NGS technology was successful in all 154 cases and identified chromosomal abnormalities in the two cases that SNP-array had failed. No statistically significant difference was shown in the detection rate of chromosomal abnormalities between SNP-array and NGS technology [70.4% (107/152) vs 67.5% (104/154), χ2=0.293, P=0.588]. (3) No significant difference in the detection of chromosome aneuploidy (six cases in each group, 3.9% vs 3.9%) and mosaicism (45 cases in each group, 29.2% vs 29.6%) was found between NGS technology and SNP-array. Three cases of polyploidy (69, XXX) and two of UPD were identified by SNP-array, but not by NGS. When combined with STR, NGS was able to detect all three cases of polyploidy (69, XXX). (4) Forty-seven structural abnormality cases detected by SNP-array carried 53 CNVs, and 49 detected by NGS carried 67 CNVs. (5) NGS detected ten, three and one more CNVs than SNP-array did when the genome lengths were 100-<500, 500-<1 000 and ≥1 000 kb, respectively. Conclusions NGS can be used to detect chromosomal aneuploidy and mosaicism that can be identified by SNP-array with fewer limitations on total amount of genome. Moreover, CNVs that fail to be identified by SNP-array can also be detected by NGS. When combined with STR, NGS can effectively detect chromosomal polyploidy. Therefore, NGS could be a potential genetic analysis method for spontaneous abortion and of importance for genetic counseling.

Objective: To investigate the value of single nucleotide polymorphism array (SNP-array) for fetuses with abnormal ultrasound findings. Method: A total of 904 fetuses with abnormal ultrasound findings were enrolled in this study from May 2015 to November 2017, and 434 (48.0%) cases received conventional karyotyping analysis at the same time. According to different abnormal ultrasound category, 904 cases were divided into 5 groups: 280 cases (31.0%) in single system structural anomalies, 31 cases (3.4%) in multiple system structural anomalies, 331 cases (36.6%) in single ultrasound soft marker abnormalities without structural anomalies, 107 cases (11.8%) in multiple soft marker abnormalities and 155 cases (17.2%) in structural abnormalities combined with soft markers abnormalities. Abnormal detection rates by SNP-array among 5 groups of abnormal ultrasound category were calculated. Result: (1) Total SNP-array results: 171 (19.0%) cases out of 904 cases analyzed by SNP-array, presented chromosomal abnormalities. Pathogenic copy number variants were detected in 27 cases (3.0%) and variants of unknown significance were detected in 81 cases (7.8%) . In addition, 7 cases (26.0%) were found with new mutation by parental validation. (2) SNP-array of 5 groups: among the 5 groups of abnormal ultrasound category, chromosomal abnormalities were identified by SNP-array in 19.3% (54/280) with single system structural abnormalities, 25.8% (8/31) with multiple system structural abnormalities, 13.9% (46/331) with single nonstructural anomalies, 19.6% (21/107) with multiple nonstructural anomalies and 27.1% (42/155) with structural abnormalities combined with nonstructural anomalies. The differences were significant (P=0.010) . No chromosome abnormalities was identified in single soft marker abnormalities, such as choroid plexus cysts, echogenic foci in the heart, single umbilical artery and pyelectasis. (3) Chromosomal abnormalities: the abnormal detection rate of aneuploidy chromosomal abnormalities by SNP-array increased with the maternal age, decreased with the gestational weeks (all P<0.05) . However, the pathogenic copy number variants and variants of unknown significance rates did not change with maternal age and gestational weeks (all P>0.05) . (4) SNP-array and karyotyping: 434 cases were analyzed by conventional karyotyping and SNP-array respectively, 10.3% (43/419) of which presented chromosomal abnormalities by conventional karyotyping and 18.7% (81/434) of which presented chromosomal abnormalities by SNP-array. Conclusions SNP-array could be a useful genetic analysis method in prenatal diagnosis for fetuses with abnormal ultrasound findings. For different abnormal ultrasound category, SNP-array has different detection rate. Compared with conventional karyotyping analysis, SNP-array can improve the detection rates for chromosomal abnormalities and find the chromosome abnormalities which can′t be detected by conventional karyotyping analysis. In clinical prenatal genetic counseling, SNP-array should be selected rationally in combination with the various abnormal ultrasound category.