Objective:This study examines the application of echocardiography in the prenatal diagnosis of copy number variation (CNV) associated with fetal congenital heart disease (CHD).Methods:A retrospective analysis was conducted on 447 singleton pregnancies from Quanzhou Maternal and Child Care Hospital (Quanzhou Children's Hospital) from January 2019 to August 2022. These individuals underwent echocardiographic assessments suggestive of fetal CHD and subsequently received invasive prenatal diagnoses. Comprehensive karyotype analysis and chromosome microarray analysis (CMA) were performed for each case. The discrepancies in the chromosomal abnormality detection were analyzed between the results produced by CMA and karyotype analysis. Furthermore, differences in the detection of pathogenic copy number variation (pCNV) between the two methods in CHD cases with diverse cardiac phenotypes, including the presence or absence of extracardiac structural malformations, the type, and quantity of cardiac structural anomalies, were explored. Statistical analysis was conducted using the Chi-square test. Results:Compared with conventional karyotype analysis, CMA demonstrated a higher detection rate of fetal chromosomal abnormalities [10.5% (47/447) vs. 20.6% (92/447), χ 2=161.56, P<0.001]. In terms of distinct cardiac phenotypes, CHD cases with extracardiac structural anomalies displayed an escalated pCNV detection rate in comparison to isolated CHD cases [11.4% (45/394) vs. 32.1% (17/53), χ 2=16.68, P<0.001]. Within the cardiac structural anomaly subgroups, increased pCNV detection rates were observed in the septal defect subgroup, conotruncal malformation subgroup, and left ventricular malformation subgroup [18.4%(29/158), 25.9%(7/27), and 25.0%(7/28) vs. 7.6%(16/210); χ 2=9.15, 9.68, and 8.55, respectively, all P<0.05]. The CMA-identified pCNV correlated with CHD included 22q11.2 deletions/duplications in eight cases, 4p16.3 deletions in two cases, 11q23.3 microduplications in two cases, 1q21.1 microdeletions/microduplications in two cases, 4q28.3 microduplications in one case, and 10p15.3 microdeletions in one case. Conclusions:CMA technology exhibited an enhanced ability to detect pCNV in fetuses with CHD. Echocardiography can guide targeted CMA screening, thereby facilitating prenatal genetic assessment of CHD.

OBJECTIVE: To explore the diagnosis, treatment and genetic characteristics of a neonate with severe pulmonary hypertension and respiratory failure. METHODS: Perinatal history, clinical manifestations, laboratory finding and diagnosis and treatment data of the child were collected. Whole exome sequencing was carried out for the child, and Sanger sequencing was used to verify the candidate variants. RESULTS: The female neonate has developed progressive respiratory failure and refractory pulmonary hypertension shortly after birth. Conventional treatment such as mechanical ventilation, vasoactive drugs, and inhaled nitric oxide were ineffective. She has developed sustained pulmonary hypertension after weaning from extracorporeal membrane oxygenation therapy, and had died after the treatment had ceased. Whole exome sequencing revealed that she has harbored a heterozygous de novo variant of c.682_683insGCGGCGGC (p.G234Rfs*148) of the FOXF1 gene, which was predicted as pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG), with evidence items of PVS1_Strong+PM2_Supporting+PS2. Based on her clinical manifestations and result of genetic testing, the child was diagnosed with alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV). CONCLUSION Discovery of the c.682_683insGCGGCGGC (p.G234 Rfs*148) variant of the FOXF1 gene has expanded the mutational spectrum of the FOXF1 gene, which has facilitated implementation of specific treatment and provided a basis for clinical diagnosis and genetic counseling.
Female ; Humans ; Child ; Infant, Newborn ; Pregnancy ; Persistent Fetal Circulation Syndrome/therapy* ; Hypertension, Pulmonary ; Pulmonary Veins ; Forkhead Transcription Factors/genetics*

Diagnostics is one of the most important bridge courses for medical students from basic to clinical. Doctor-patient communication runs through the whole process of patient diagnosis and treatment. How to improve medical students' ability of doctor-patient communication? Our teaching team has carried out continuous reform and explored the scientific effective teaching mode. Recently, through the construction of "doctor-patient communication skills" quality online course, efforts have made to build an online and offline blended learning mode, which has gradually realize the integration with diagnostics teaching, and has achieved remarkable results. It also provides a scientific practical basis for the integration of doctor-patient communication and other clinical courses, which is worthy of promotion.

Objective    To compare and analyze the short-term efficacy of different surgical methods for Siewert type Ⅰ and type Ⅱ esophagogastric junction carcinoma. Methods    We selected 82 patients who accepted radical resection of esophagogastric junction carcinoma from March 2015 to March 2018 in our department, including 53 males and 29 females, aged 48-72 (61±6) years. The patients were divided into four groups according to the surgical method: a left thoracotomy group (n=14), a laparoscopic left small thoracotomy group (n=33), a thoracoscopic Ivor-Lewis group (n=17), and a thoracoscopic McKeown group (n=18). Their clinical characteristics, operative situations, postoperative complications and survival rate were analyzed. Results    Among the four groups, the left thoracotomy group cost the shortest operation time, followed by laparoscopic left small thoracotomy group, thoracoscopic McKeown group and thoracoscopic Ivor-Lewis group. The thoracoscopic McKeown group/laparoscopic left small thoracotomy group had the least bleeding. The fewest lymph nodes were dissected in the left thoracotomy group and the most in the thoracoscopic McKeown group. The laparoscopic left small thoracotomy group had the lowest total complication rate and the incidence of pneumonia and arrhythmia among the four groups (P<0.05). There was no significant difference in survival rate among the four groups (P>0.05). Conclusion    For Siewert type Ⅰ and type Ⅱ esophagogastric junction carcinoma, thoracoscopy combined with laparoscopic radical resection is safe and reliable. Laparoscopic left small thoracotomy has the advantages of minimal invasiveness and complete lymph node dissection, especially for the patients with poor cardiopulmonary function, which will significantly shorten operation time and reduce postoperative complications, so it is worth to be popularized.

Objective:To construct RNA interference (RNAi) lentiviral expression vector of DEK gene, and to explore its effect on the biological behavior of liver cancer cells.Methods:Double-stranded oligo DNAs were annealed and synthesized according to the interference sequence of DEK gene by RNAi technology. Small interfering RNA expression vector pLKO.1 was cloned after enzymatic digestion. The recombinant lentiviral pLKO.1-sh hDEK was constructed, and then the virus supernatant was collected, packed and infected by 293T cells. Real-time reverse transcription PCR (RT-PCR) and Western blot were used to detect DEK expression in human liver cancer cells Bel-7402, Hu-7, SmMC-7721 and HepG2, and DEK knockdown efficiency in each group of lentivirus-infected cells. Cell proliferation ability, cloning ability, apoptosis and migration ability were detected by cell counting kit-8 (CCK8), flow cytometry and scratch test, respectively. The t-test was used to compare the mean between the two groups, and one-way ANOVA was used to compare the multiple groups.Results:Enzymatic digestion and DNA sequencing results confirmed that the recombinant lentiviral vectors pLKO.1-sh hDEK1 and pLKO.1-sh hDEK3 were successfully constructed. RT-PCR and Western blot results showed that the expression of DEK in human liver cancer cells BEL-7402 and Huh7 cells was higher, and pLKO.1-sh hDEK3 was more effective in inhibiting the DEK gene expression ( P < 0.05). Therefore, pLKO.1-sh hDEK3 was selected to infect BEL-7402 and Huh7 cells for subsequent functional experiments. CCK8 cell proliferation test result showed that the cell proliferation ability of BEL-7402 and Huh7 cells infected with recombinant lentivirus was weakened when compared with blank control and negative control group ( P < 0.05). Apoptosis results showed that the apoptosis rate of knockdown group was higher than that of blank and the negative control group ( P < 0.05). Cell scratch test result showed that the wound healing rate of knockdown group was lower than that of blank control and negative control group ( P < 0.05), and the difference was statistically significant; however, there was no statistically significant difference between blank control and negative control group. Conclusion:Targeting DEK expression in silent liver cancer cells can inhibit the cell proliferation, migration ability, and induce apoptosis, which lays the foundation for further study of the role of DEK gene in liver cancer.

Objective: To investigate the efficacy of low dose and short-term oral rifaximin in patients with small intestinal bacterial overgrowth (SIBO) related irritable bowel syndrome (IBS). Methods: From June 2017 to June 2018, at the Department of Gastroenterology of Huashan Hospital, Fudan University in Shanghai, a total of 37 patients with SIBO related IBS were sequentially enrolled and divided into three groups: diarrhea type, constipation type and mixed type. All the patients received rifaximin 200 mg each time, three times per day for 14 days. The clinical efficacy before and after treatment were compared by the scores of irritable bowel syndrome symptom severity scale (IBS-SSS) and irritable bowel syndrome associated quality of life (IBS-QoL). The efficacy of rifaximin on SIBO clearance and SIBO related chronic low-grade inflammation was evaluated by lactulose breath test (LBT) and exhaled nitric oxide (eNO). T test and variance analysis were used for statistical analysis. Results: Among 39 patients with SIBO related IBS, 24 patients were diarrhea type, seven were constipation type and six were mixed type. Except one patient quitted the study because of chest tightness and palpitation, the IBS-SSS score of the left 36 patients before treatment was (250.83±55.10), and decreased to (151.11±33.96), and the difference was statistically significant (t=13.686, P<0.01). Before treatment the score of IBS-QoL was (28.03±16.16), and decreased to (14.39±9.31) after treatment, and the difference was statistically significant (t=6.867, P<0.01). There was no significant difference in IBS-SSS and IBS-QoL scores among the diarrhea type, constipation type and mixed type groups (all P>0.05). After treated by rifaximin, the negative conversion rate of SIBO was 52.8%(19/36). The negative conversion rate of hydrogen LBT was 54.5%(12/22) and among 11 methane LBT positive patients, six cases turned negative; and one of three patients with both positive hydrogen LBT and methane LBT turned negative. The negative conversion rate of eNO was 41.7%(15/36). Conclusions Low dose and short term rifaximin treatment can improve the severity of clinical symptoms and quality of life in SIBO-related IBS patients, and the efficacy is not related with the subtypes of IBS.

Objective To discuss the application of nursing safety management mode in the management of disinfection supply center and its risk factors. Methods A total of 52 workers from our hospital's disinfection and supply center from April 2017 to April 2018 were randomly divided into two groups. The control group was asked to use the routine management model and the study group was asked to use the nursing safety management model. Results The incidence of adverse events in the study group was lower than that in the control group, and the difference was statistically sig nificant (P<0.05). The biological, chemical and physical risk factors of the study group were lower than those of the control group. The satisfaction of the study group was significantly higher than that of the control group (P<0.05). Conclusion The application of nursing safety management mode in the management of disinfection supply center can reduce the occurrence of adverse conditions, improve the quality of care, and has obvious effects. It is worthy of application and promotion in the management of disinfection supply center.

Objective To investigate regional spontaneous brain activity in mild cognition impairment (MCI) patients with amnesic (aMCI) and non-amnesic (naMCI).Methods Twenty-five aMCI patients,21 naMCI patients and 15 normal controls (NC) underwent resting-state functional magnetic resonance imaging.The regional homogeneity (ReHo) map of the whole brain was obtained by calculating the similarity of each voxel with its nearest 26 voxel time series.The differences of ReHo map across the whole brain among three groups were compared.Results In aMCI group,ReHo values were lower in right frontal lobe and higher in left middle temporal gyrus and left cerebellum compared with NC (P＜0.05,Alphasim correction).In naMCI group,ReHo values were higher in anterior cingulate cortex and right middle frontal gyrus and lower in right parahippocampa gyrus,right middle temporal gyrus as well as right precuneus compared with NC (P＜0.05,Alphasim correction).Compared with naMCI,the ReHo values were significantly higher in left prefrontal gyrus,left middle temporal gyrus and lower in right cerebellum (P＜0.05,Alphasim correction).Conclusion There are differences in spontaneous brain activity of left prefrontal gyrus,left middle temporal gyrus and right cerebellum between aMCI and naMCI,which may be used to differentiate brain function between aMCI and naMCI patients.

To explore the correlation between hyperuricemia and renal damage in patients with lupus nephritis (LN).
 Methods: The data for clinical features, laboratory and renal pathological examination were collected from 177 renal biopsy-proven LN patients with or without hyperuricemia and were retrospectively analyzed to determine the correlation between serum uric acid and renal damage.
 Results: LN patients with hyperuricemia group had higher rate of hypertension and higher level of blood urea nitrogen and serum creatinine while lower estimated glomerular filtration rate (eGFR) and lower positive rate of anti-U1RNP antibody (P<0.05). In the LN patients with hyperuricemia group, renal pathological scores, including acitive index, chronic index and tubulointerstitial lesions, were higher than those in the LN patients without hyperuricemia group (P<0.05). The level of serum uric acid was positively correlated with serum creatinine, renal pathological classification and renal pathological scores while negatively correlated with eGFR (P<0.05).
 Conclusion: LN patients with hyperuricemia are associated with more serious renal damage. Hyperuricemia is an important predictor for poor prognosis in patients with LN.
Blood Urea Nitrogen ; Creatinine ; blood ; Female ; Glomerular Filtration Rate ; physiology ; Humans ; Hypertension ; Hypertension, Renal ; Hyperuricemia ; epidemiology ; Kidney ; pathology ; Lupus Nephritis ; complications ; diagnosis ; Male ; Prognosis ; Retrospective Studies ; Ribonucleoprotein, U1 Small Nuclear ; blood ; Risk Factors ; Uric Acid ; blood

Objective To investigate the effect of 12 Fr catheter on the catheteration for the patients with prostatic hypertrophy after stroke. Methods One hundred and four sixteen patients with prostatic hypertrophy from urinary detention were divided into the control group (n=80) and the observation group (n=84) based on the odd and even numbers of admission date according to a digit random table. The control group received catheteration with a 14~20 Fr catheter, and the observation group did with a 12 Fr catheter. The two groups were compared in terms of pains, urethral injury and leakage of urine during intubation. Result The pain, urethral injury, leakage of urine in the observation group were all significantly lowered than those of the control group (all P<0.05). Conclusions 12 Fr catheter for catheteration for the patients with post-stroke prostatic hypertrophy can significantly reduce the degree of pain, the urethral injury and leakage of urine. Thus it is worthy of clinical application.