Application of discharge planning based on enhanced recovery after surgery in patients with osteoporotic thoracolumbar fracture / 中华创伤杂志

Objective:To analyze the application effect of discharge planning based on enhanced recovery after surgery (ERAS) in patients with osteoporotic thoracolumbar fracture (OTLF).Methods:A retrospective cohort analysis was made on clinical information of 230 OTLF patients treated in Honghui Hospital of Xi′an Jiaotong University from January to December 2020, including 44 males and 186 females, aged 53-92 years [(72.0±9.9)years]. A total of 115 patients receiving conventional nursing intervention from January to June 2020 were enrolled in regular nursing group and 115 patients receiving discharge planning intervention based on ERAS from July to December 2020 were enrolled in discharge planning group. The length of hospital stay, readiness for hospital discharge scale (RHDS) at 4 hours before discharge, caregiver preparedness scale (CPS) on admission and at 4 hours before discharge, discharge rate before 12∶00, Chinese osteoporosis quality of life short questionnaire (COQOL) on admission and at 6 months after surgery, and re-fracture rate were compared in the two groups.Results:The patients were followed up for 6 months, except for 3 patients lost to follow up in discharge planning group and 4 patients in regular nursing group. The length of hospital stay was (2.8±0.6)days in discharge planning group and (2.6±0.7)days in regular nursing group ( P>0.05). The RHDS in discharge planning group was significantly greater at 4 hours before discharge when compared with regular nursing group [(103.0±8.3)points vs. (95.3±9.5)points] ( P<0.01). The two groups had no significant difference in CPS at admittance ( P>0.05), but a significantly greater CPS was found in discharge planning group at 4 hours before discharge when compared with regular nursing group [(28.9±3.5)points vs. (24.3±4.8)points] ( P<0.01). The discharge rate before 12∶00 in discharge planning group was significantly higher when compared with regular nursing group [27.7%(31/115) vs. 15.3%(17/115)] ( P<0.05). The COQOL was similar at admittance between the two groups ( P>0.05), but a significantly lower score was found in discharge planning group than that in regular nursing group [(21.6±6.2)points vs. (26.6±6.9)points] ( P<0.01). A significantly lower re-fracture rate was found in discharge planning group at 6 months after surgery when compared with regular nursing group [4.5%(5/112) vs. 12.6%(14/111)] ( P<0.05). Conclusion:For OTLF patients, discharge planning based on ERAS is superior to regular nursing in improving the readiness for hospital discharge, caregiver preparedness, quality of life and management of beds, and lowering re-fracture rate.

Advances in the treatment of liver cirrhosis with portal vein thrombosis / 临床肝胆病杂志

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.

Life quality and its influencing factors in patients with Kashin-Beck disease / 中华地方病学杂志

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.

Relationship between income level and quality of life in patients with Kashin-Beck disease / 中华地方病学杂志

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.

Genetic testing of chorionic villi from abortuses during early pregnancy / 中华医学遗传学杂志

OBJECTIVE@#To explore the prevalence and characteristics of chromosomal abnormalities in abortuses during early pregnancy with single nucleotide polymorphism microarray (SNP-array).@*METHODS@#For 520 abortuses, copy number variations (CNVs) in chorionic villi were analyzed with SNP-array.@*RESULTS@#In 510 (98.1%) of the samples, the analysis was successful. Among these, 57.6% (294/510) of the samples were found to harbor clinically significant chromosomal abnormalities. 38.8% of the samples (198/510) had a normal result. 2.4% (12/510) of the samples harbored benign CNVs, and 1.2% (6/510) harbored variants of uncertain significance (VOUS). Aneuploidies, polyploidies, pathogenic CNVs and uniparental disomies (UPD) had accounted for 75.2% (221/294), 13.9% (41/294), 8.2% (24/294), and 2.7% (8/294) of the samples, respectively. 45,XO was the most common finding, which was followed by trisomy 16 and trisomy 22. 69,XXY was the most common polyploidy.@*CONCLUSION@#Chromosomal abnormalities are the main cause for early miscarriage, among which aneuploidies are most common. The prevalence of aneuploidies is significantly increased among women over 35. SNP-array analysis has the advantage of high success rate, high resolution and great accuracy, but the clinical significance of microdeletions/microduplications found by SNP-array can be difficult for interpretation.

Application of next-generation sequencing technique in genetic analysis of spontaneous abortion / 中华围产医学杂志

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.

Application of single nucleotide polymorphism array in prenatal diagnosis for fetuses with abnormal ultrasound findings / 中华妇产科杂志

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.

Analysis of non-invasive prenatal screening detection in fetal chromosome aneuploidy / 中华妇产科杂志

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.