Objective Through the detections of the heterozygote frequencies tests of fetal specific genes PLAC4 and COL6A2 mRNA alleles in plasma of pregnant women, to explore its possibility of application in the noninvasive prenatal screenings of trisomy-21. Methods A toltal of 500 cases (males and females 250 cases respectively)of Han ethnic groups with Henan Provice of China who were subject to the physical checkup clinic of the Third Affiliated Hospital,Zhengzhou University from June to December, 2013 were selected as the healthy physical checkup group, and such techniques as DNA sequencing and PCR-restriction fragment length polymorphism (RFLP) were adopted to the determinations of the heterozygote frequencies of the single nucleotide polymorphism(SNP)of the PLAC4 and COL6A2 genes in the maternal peripheral blood in the healthy physical checkup group, and the differential comparisons of the determination results of the SNP heterozygote frequencies and the corresponding heterozygote frequencies in the National Center for Biotechnology Information (NCBI) database;30 cases of healthy pregnant women who spontaneously underwent pregnancy checkups at the maternity clinic were randomly selected as the healthy pregnancy group, and real-time fluorescence quantitative reverse transcription-PCR technique was adopted for determining the expression levels of PLAC4 and COL6A2 mRNA in the peripheral blood of pregnant women of 8 weeks, 10 weeks, 12 weeks, 14 weeks and 16 weeks;40 cases of the same phase were selected for acting as the specimens for the karyotype analyses of the amniotic fluid cells, among which 20 cases were trisomy-21, and the 20 cases of the negative control group, and reverse transcription-multiplex ligation dependent probe amplification (RT-MLPA) technique was adopted for screening the fetal trisomy-21. Results (1) The allele heterozygote frequencies of the SNP of the healthy physical checkup group:determinations of the genotypes and hybrid rates of the 10 SNP sites of the PLAC4 and COL6A2 genes indicated that those with higher heterozygote frequencies were respectively rs7717, rs559, rs1044598, rs59066201 and rs1042917, with population coverage of 98%. Among them, the allele hybrid rates of rs59066201 were never seen in the NCBI database;in the respective comparisons of the allele hybrid rates of rs8130833, rs9977003 and rs7844 with the hybrid rates of the NCBI database, the variations had statistical significance (P<0.05). (2) The expression levels of PLAC4 and COL6A2 mRNA of the different pregnancy weeks of the healthy pregnancy group: the levels of PLAC4 mRNA in the peripheral blood of women of 8 weeks, 10 weeks, 12 weeks, 14 weeks and 16 weeks of pregnancy were respectively 7.22 ± 1.05, 8.02±1.41,9.51±1.69,11.33±2.11 and 13.31±2.58, with their expression levels rising along with the increase of the pregnancy weeks; among them, the comparison of pregnancy 8 weeks and pregnancy 10 weeks, the variations had no statistical significance (P>0.05);in the mutual comparisons among the expression levels of the various pregnancy weeks, the variations had statistical significance (P<0.05). The expression levels of COL6A2 mRNA in 8 weeks, 10 weeks, 12 weeks, 14 weeks and 16 weeks were respectively 8.95 ± 1.28, 11.19 ± 1.36,15.00 ± 1.58,16.87 ± 1.72 and 18.96 ± 2.79, with their expression levels rising along with the increase of the pregnancy weeks, and in the mutual comparisons between the expression levels of the various pregnancy weeks, the variations all had statistical significance (P<0.05). (3) Prenatal screenings of trisomy-21 in the validation group of the trisome:a total of 5 sites of rs7717, rs559, rs1044598, rs59066201 and rs1042917 were selected from the allele heterozygote frequencies of SNP sites were selected from the subjects of the healthy physical checkup group, and 10 cases of trisomy-21 specimens and 10 cases of negative CTR specimens were accurately determined, with the sensitivity reached 80%(17/20), and the specificity reached 90%(18/20). One case of the trisomy-21 and two negative cases were both homozygotes, and among the trisomy-21 specimens of two cases, only one SNP was a heterozygote, and it was impossible to conduct screenings on these 5 cases, with the screening accuracy reaching 100%(35/35). Conclusions Fetal specific genes PLAC4 and COL6A2 mRNA are expressed in the peripheral blood of pregnant women in different gestational age;its expression level increases with the increase of gestational age. Among them, five SNP including rs7717, rs559, rs1044598, rs59066201 and rs1042917 show highest heterogeneity rate, which is different from the corresponding heterogeneity rate in NCBI database. RT-MLPA technology is a rapid, effective, noninvasive and low cost method of prenatal screening 21 trisomy.

A harmonious relationship between doctors and patients is an important aspect of the socialist harmonious society. The key of harmonious relationship is to perform effective humanistic caring for patients, to change the service model, to perfect the attitude of service; the patients should seek scientific medical help and adopt a rational attitude towards possible medical accidents. Thus the kind of concordant ambience will come into being in medical treatment.

ABSTRACT:Objective To evaluate the curative effect of tension-free vaginal tape-obturator (TVT-O)and modified TVT-O in treating female stress urinary incontinence (SUI).Methods We selected 1 1 3 female patients diagnosed with SUI from January to December 2013 in our department and divided them into standard TVT-O group (group A,5 6 cases)and modified TVT-O group (group B,5 7 cases).We evaluated prospectively the safety,short-term efficacy and complications of operation in the two groups.Results The length from bilateral obturator membrane to the puncture point in the skin was greater in group A than in group B.The average intraoperative blood loss was more in group A than in group B.The median NRS score of postoperatie thigh pain in group A was higher than in group B (P<0 .0 5 ).The two groups did not differ significantly in operation duration,postoperative catheterization,mean hospital stay duration,the length and position from bilateral obturator membrane to the puncture point,or surgical efficacy (P>0.05).Conclusion Both TVT-O and modified TVT-O techniques are effective in treating female SUI.Modified TVT-O has a short path to get through the adductor muscles and less intraoperative blood loss;therefore,it can significantly reduce the complications such as postoperative pain to enhance the quality of life after operation. 

Objective To evaluate the effectiveness of swallowing training supplemented with neuromuscular electrical stimulation to provide a reference for clinical treatment and further study.Methods Reports of randomized and controlled trials of surface neuromuscular electrical stimulation in treating post-stroke dysphagia were sought in the Cochrane library,the PubMed and Embase databases,the Cumulative Index to Nursing and Allied Health Literature (CINAHL),and also in the ProQuest,PsycARTICLES,CBMdisc,China National Knowledge Infrastructure (CNKI),CQVIP database and Wanfang databases.All of the literature found was evaluated by 2 researchers according to predefined inclusion and exclusion criteria and the data were extracted and combined.Then meta-analysis was performed using version 5.3 of the RevMan software package.Results Eleven randomized and controlled trials involving 576 patients were included in the meta-analysis.Together,the data showed that swallowing training supplemented by neuromuscular electrical stimulation is significantly more effective than swallowing training alone in improving swallowing function.It reduces the risk of aspiration and improves quality of life.It does not,however,generally shorten the pharyngeal transmit time.Conclusions Swallowing training supplemented with neuromuscular electrical stimulation is a promising approach for treatment of post-stroke dysphagia and warrants further study.

Background:The occurrence of gastric cancer is a gradual process with multiple factors and multiple steps. In addition to cytological and structural abnormalities,there are abnormal molecular expressions,which involve the activation of many oncogenes and the inactivation of tumor suppressor genes. Aims:To explore the expressions and significance of Ki-67,p53 and P504s in normal gastric mucosa,atrophic gastritis with intestinal metaplasia,low-grade intraepithelial neoplasia,high-grade intraepithelial neoplasia and early gastric cancer. Methods:A total of 44 cases of normal gastric mucosa,44 cases of atrophic gastritis with intestinal metaplasia,41 cases of low-grade intraepithelial neoplasia,38 cases of high-grade intraepithelial neoplasia and 35 cases of early gastric cancer from Jan. 2015 to Dec. 2016 at the Affiliated Drum Tower Hospital of Nanjing University Medical School were collected. Expressions of Ki-67,p53 and P504s were detected by immunohistochemical staining. Results:Compared with normal gastric mucosal tissue,the positivity rates of expression of Ki-67,p53 and P504s in atrophic gastritis with intestinal metaplasia,low-grade intraepithelial neoplasia,high-grade intraepithelial neoplasia and early gastric cancer were obviously increased (P＜0.05). With the increasing of severity of the lesion,the positivity rate gradually increased. Conclusions:The expressions of Ki-67,p53 and P504s are closely related to the occurrence and development of gastric cancer,and are involved in the early process of gastric cancer. The detections of these molecular markers are helpful for determining the severity and trend of the lesion,and beneficial for improving the detection rates of gastric precancerous lesion and early gastric cancer.

Severe pneumonia is a common disease in intensive care unit (ICU), which is characterized by acute onset, poor prognosis, and can cause multiple systems dysfunction. For critical ill patients, in a state of stress, catabolism is increased, and nutritional risk is extremely high. Proper nutrition treatment can reduce the decomposition of own tissues in the stress period and supplement the protein and energy needed by the body′s metabolism. Therefore, the nutritional treatment of severe pneumonia patients is particularly important. This paper mainly reviews the nutritional literatures of severe pneumonia and critical ill patients in recent years, in order to provide more appropriate nutritional treatment for severe pneumonia patients.

Objective:To explore the model of first aid skills training based on competition.Method:The second-year residents who participated in the competition in 2021 ( n = 142) were selected. According to whether they attended BLS training in the first year, they were divided into group A ( n = 88) who attended BLS training and group B ( n = 54) who did not. Chi-square test, T test, Wilcoxon rank sum test and Logistic regression were used in our study. Results:There was no significant difference in gender and specialty between both groups (female, 62.5% vs. 68.5%, P= 0.466; TCM, 50% vs. 53.7%, P= 0.668), but the real resuscitation experience of group A was more than that of group B (40.9% vs. 9.3%, P= 0.000). The qualified rate of CPR and the compression score in group A was higher than that in group B [(81.8% vs. 61.1%, P = 0.006; (30±5) vs. (25 ±10), P= 0.001], including compression frequency, depth, rebound and compression/respiration rate (73.9% vs. 55.6%, P= 0.024; 88.6% vs. 70.4%, P= 0.006; 96.6% vs. 87%, P= 0.031). In the theoretical examination, the correct rates of electrocardiogram [(53.63±2.9)% vs. (50.44±2.57)%] and first aid medication [(57.38±3.55)%, P = 0.001] in the two groups were significantly lower than the qualified rate. After adjusting other factors, Logistic regression analysis showed that the CPR qualification rate in group A was 2.769 times higher than that in group B ( P= 0.015, 95% CI 1.215~6.311) Conclusions:The first aid skills training mode based on competition can objectively reflect first aid skills level of residents. We found that the quality of CPR skills was not related to gender, specialty and real CPR experiences but experience of BLS training was an independent influencing factor. And how to identify and manage arrhythmias and how to choose different emergency drugs are urgent emergency skills for residents to improve.

OBJECTIVE: To explore the clinical phenotypes and genetic diagnosis of 2 sporadic cases for cleidocranial dysplasia. METHODS: The clinical data of two cases of CCD admitted to the Third Affiliated Hospital of Zhengzhou University on December 16, 2021 and December 9, 2021 were analyzed retrospectively, and the whole exome sequencing (WES), chromosome microarray analysis and copy number variation sequencing were performed. RESULTS: The main ultrasonographic findings of the fetus had included poorly calcified skull bones, budging of parieto-occipital area, compression and deformation of skull, and loss of nasal bone. The infant's clinical phenotypes included delayed closure of anterior fontanelle, recurrent respiratory tract infection, growth retardation, and clavicular hypoplasia. By WES analysis, the fetus was found to harbor a heterozygous c.911_914delinsTTT variant of the RUNX2 gene, whilst the infant was found to harbor a heterozygous c.1008delT variant of the RUNX2 gene. Both variants were verified by Sanger sequencing to have occurred de novo. CONCLUSION For sporadic cases featuring cleidocranial dysplasia, prenatal ultrasonography is particularly important. Hypoplastic clavicle, skull calcification and nasal bone absence are the main features. Diagnosis should also be suspected for infants featuring growth retardation, recurrent respiratory tract infections and clavicular dysplasia. The identification of the c.911_914delinsTTT and c.1008delT variants of the RUNX2 gene has facilitated genetic counseling and prenatal diagnosis, and also expanded the mutational spectrum of the RUNX2 gene.
Female ; Humans ; Pregnancy ; Cleidocranial Dysplasia/genetics* ; Core Binding Factor Alpha 1 Subunit ; DNA Copy Number Variations ; Growth Disorders ; Retrospective Studies

OBJECTIVE: To explore the clinical phenotype and genetic variants of a fetus with Glutaracidemia type II C (GA II C). METHODS: Clinical data of a 32-year-old pregnant woman and her fetus with GA II C diagnosed at the Third Affiliated Hospital of Zhengzhou University in December 2021 due to the enlargement and enhanced echo of the kidneys and oligohydramnios fluid at 17 weeks were analyzed retrospectively. Amniotic fluid sample of the fetus and peripheral blood samples of the couple were collected for whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Copy number variation (CNV) was detected by using low-coverage whole genome sequencing (CNV-seq). RESULTS: At 18 weeks' gestation, ultrasound revealed that the fetus had enlargement and enhanced echo of the kidneys along with no echo of renal parenchymal tubular fissure and oligohydramnios. MRI at 22 weeks' gestation confirmed that both kidneys were enlarged with uniformly increased abnormal T2 signal and decreased DWI signal. The volume of both lungs was small, with slightly higher T2 signal. No CNV was detected in the fetus. WES revealed that the fetus has harbored compound heterozygous variants of the ETFDH gene, namely c.1285+1G＞A and c.343_344delTC, which were inherited from its father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PM2_Supporting+PS3_Supporting; PVS1+PM2_Supporting+PM3). CONCLUSION The c.1285+1G＞A and c.343_344delTC compound heterozygous variants of the ETFDH gene probably underlay the disease in this fetus. Type II C glutaric acidemia may manifest as bilateral kidney enlargement with enhanced echo and oligohydramnios. Discovery of the c.343_344delTC has enriched the spectrum of ETFDH gene variants.
Pregnancy ; Humans ; Female ; Mutation ; DNA Copy Number Variations ; Oligohydramnios/genetics* ; Retrospective Studies ; Phenotype ; Fetus/diagnostic imaging*

Objective:To investigate the short term outcomes and postoperative respiratory complications of patients with chronic thromboembolic pulmonary hypertension(CTEPH) treated by pulmonary endarterectomy(PEA).Methods:45 consecutive CTEPH patients underwent PEA between December 2017 and January 2020 in our institution were enrolled, including 25 females and 20 males. The mean age of operation was 51.2(25-70) years old. 24(53.5%) patients were in New York Heart Association(NYHA) functional class Ⅲ-Ⅳ. The mean PVR before operation was 923(461-2 711) dyn·s·cm -5. All patients’ data were entered in a prospective database, divieded into patients with respiratory complications group(WRC)and without respiratory complications group(WORC). To assess risk factors for postoperative respiratory complications and its effect on short term outcomes. Results:There was a significant reduction in mPAP(from 37 mmHg to 20 mmHg) and PVR(from 923 dyn·s·cm -5 to 293 dyn·s·cm -5) in the entire group. The in-hospital mortality rate was 4.4%(2 cases), died due to postoperative cardiogenic circulatory failure, even with VA-ECMO treatment and mediastinal infection, respectively. Postoperative respiratory complications occurred in 32 patients(71.1%). The most common complications were reperfusion pulmonary edema 44.4%(20 cases) and residual pulmonary hypertension 11.1%(5 cases). The WRC group showed a tendency to have longer periods of mechanical ventilation, longer ICU stays and more ICU costs. Independent predictors of postoperative respiratory complications were time from symptom onset to PEA>36 months( OR=12.2, 95% CI: 2.1-70.7, P=0.005)and six-minute walking distance<300 m( OR=12.6, 95% CI: 1.1-138.0, P=0.0038). Conclusion:Pulmonary endarterectomy is an effective and safe treatment for CTEPH. Postoperative respiratory complications were mainly determined by symptom onset time and pre-operative status. Patients with CTEPH should consider PEA surgery early.