Based on the significance of the innovative experiment program for college students and the experience at home and abroad,this paper analyzes the current situation of the implementation of this plan by School of Medicine of Shanghai Jiaotong University.It summarizes the beneficial experience of training students' scientific research thinking in the implementation of the course plan,through literature reading,project design and so on.Practice has proved that,with rigorous and reasonable protection system and the scientific implementation of the process and the quality control system,the program can play a role in improving the students' ability of innovation and practice,stimulate their interest in scientific research,and excavate their research potential.

Objective Mycoplasma pneumoniae is one of the main pathogens of community-acquired pneumonia in children and teenagers , which may cause mycoplasma pneumoniae pneumonia ( MPP) .Atelectasis is one of the most common manifestations of MPP.The aim of the article was to evaluate the diagnostic and therapeutic value of fiberoptic bronchoscopy ( FB) in children with MPP associated with atelectasis . Methods Retrospective analysis were made on clinical data and FB records of 99 cases of hospitalized children with MPP associated with atelectasis from August 2010 to December 2012 . Results The positive rate of MP-DNA was 92.9%(92/99) in bronchoalveolar lavage fluid (BALF), and the positive rate of MP-Ab-IgM in serum was 68.7%(68/99).All pa-tients showed obviously bronchial mucosa congestive edema during FB examination .The results are as follows:bronchial phlegm bloc-king in 31 cases (31.3%), lumen inflammatory stenosis in 22 cases (22.2%),mucosal ulcer change in 7 cases(7.1%) and mucous nodular change in 3 cases (3.0%).4 weeks after being treated with bronchoalveolar lavage (BAL), only 3 cases remained in atelec-tasis, the partial and complete re-expansion rate reaching 96.5%(82 of 85). Conclusion The positive rate of BALF MP-DNA de-tection technology for the diagnosis of MP infection is higher than that of serum MP-Ab-IgM examination .Early interventional therapy by FB can shorten the course of disease and promote the lung re-expansion in children with MPP associated with atelectasis .

OBJECTIVE:To determine the content of glycyrrhetic acid in zhenkening capsules by RP-HPLC.METHODS:The separation was performed on Hypersil C 18,the mobile phase consisted of methanol-water-glacial acetic acid(87∶13∶2.5)with flow rate at 1.0ml/min and detection wavelength at 254nm,the column temperature was set at room temperature.RE-SULTS:The calibration cure of glycyrrhetic acide was linear in the concentration range of 10～120?g/ml(r=0.9999),the average recovery was 99.68%(RSD=0.49%).CONCLUSION:This method is simple,fast,accurate,and suitable for the determination of glycyrrhetic acid in zhenkening capsules.

Objective To study the calculational method for the radiotherapy facilities of the medical linear accelerator' s useful beam towars its maze.Methods The shielding calculation was made under the relevant national standards for a radiotherapy treatment room and compared with the test results.Results The dose rates at the maze entrance as calculated and measured were 89 and 86 μSv/h inside the maze door,as well as 5.7 and 6.2 μSv/h outside the maze door,respectively.The calculated results were consistent with measured results.Conclusions By comparison of calculated results with measured results,the accuracy of the theoretical calculation method could be verified.

Objective To study the dynamic changes of plasma C-reactive protein (CRP) and cortisol (COR) and their clinical value in prognosis of patients with sepsis. Methods Daily CRP and COR detection was conducted to record the dynamic changes of CRP and COR for cases of sepsis patients in ICU then the rela-tionship between dynamic changes of serum CRP and COR and prognosis were analyzed. Results Serum CRP and COR levels of dead patients were significantly higher than those of survival patients after treatment (P <0.05). According to the difference of the dynamic changes of CRP and COR, the data were divided into typeⅠ:sustained elevated type , typeⅡ: up-and-down type , type Ⅲ: fluctuated type and type Ⅳ: normal or mild ele-vation type. The mortality of CRP typeⅠ patients was significantly higher than that of type Ⅱ and type Ⅳ(P <0.001). The mortality of COR typeⅠ and COR Ⅲ patients was significantly higher than that in COR Ⅱand COR Ⅳ (P < 0.001). Further analysis showed that the mortality of group with significant elevation of CRP and COR were obviously higher than that of group with significant increase of CRP or COR and that of group with no significant elevation of CRP and COR (P < 0.001); the mortality of group with significant increase of CRP or COR was also significantly higher than that of group with no significant elevation of CRP and COR (P < 0.001). Conclusions The dynamic changes of COR and CRP in patients with sepsis present certain regularity and monitor-ing the dynamic changes of the two provides accurate assessment of the prognosis of sepsis.

Objective:To explore management experience for post-adolescent postoperative urethral stricture of hypospadias in a single center.Methods:The clinical data of 71 cases of postoperative urethral stricture of post-adolescent hypospadias from January 2015 to December 2019 were retrospectively analyzed. The average age was 27.7(12-65) years. The mean duration of urethral stricture was 33.4(1-240) months. The number of prior surgeries was 2.5(1-9). There were 32 cases of ectopic urethral orifice, including 22 on penile, 8 on scrotum and 2 on perineum. There were 17 cases of urethral stricture with penile curvature, 11 with urethra-cutaneous fistula, 9 with urethral diverticulum, 11 with urethral calculus and 25 with urethral infection. Ten patients kept suprapubic tubes; 61 patients were able to urinate on their own, but suffered from dysuria and weak steam. The average maximum uroflow rate of 71 cases was 4.7(0-11.2) ml/s. The primary urethral reconstruction procedures were performed on 33 cases, included 11 penile or scrotal septum flap urethroplasty, 2 urethral diverticulum wall flap urethroplasty, 12 oral mucosal urethroplasty and 8 urethrotomy. Thirty-three cases underwent two-staged surgery. For patients with penile curvature greater than 30 degrees, the penis was straightened with a urethrotomy in first stage. Besides, the dorsal skin of penis or oral mucosal graft were transferred to the ventral side of the penis to the preset urethral plate. In second-stage, Denis Brown urethroplasty was performed on 23 patients, tubularized incised plate (Snodgrass) urethroplasty on 6, and oral mucosa inlay urethral plate (Snodgraft) urethroplasty on 4. In 5 cases, preplacing of oral mucosa was done in the second stage with a third-staged urethroplasty. Penile curvature was relieved by ventral scar resection with the folding the dorsal tunica albuginea of corpus cavernosum when necessary.Results:The mean follow-up time was 30.5(4-59) months. Sixty-one patients got satisfying postoperative urination, with an average maximum uroflow rate of 22.7 ml/s (15.8-37.2 ml/s). Restenosis occurred in 10 cases, and urethral fistula in 7 cases. Re-stricture patients underwent urethrotomy in 5 cases, augmented urethroplasty with flap in 4 cases, and urethroplasty with oral mucosal graft in 1 case. Among the 7 patients with urethral fistula, 5 were cured by one fistula repair, and 1 cured by second repair; the rest one was left untreated. 2 patients still had penile curvature after operation.Conclusions:It is difficult to manage post-adolescent postoperative urethral stricture of hypospadias, especially for patients with residual penile curvature greater than 30 degrees and lack of penile skin. Performing correction of the curvature and reconstruction of the urethral plate in first stage and Denis Brown urethroplasty or Snodgrass urethroplasty in second or third stage could achieve good results.

OBJECTIVE: To explore the genetic etiology of a fetus with Cornelia de Lange syndrome type 1. METHODS: Clinical data of the fetus was collected. Genomic DNA was extracted from amniotic fluid and peripheral blood samples of the parents and subjected to low-depth copy number variant sequencing, whole exome sequencing (WES) and Sanger sequencing. Pathogenicity of the candidate variant was predicted based on the guidelines of American College of Medical Genetics and Genomics (ACMG). Minigene assay was used to assess the effect of the variant on mRNA splicing. RESULTS: WES revealed that the fetus has harbored a heterozygous c.5808+5gG>A variant in the intron of the NIPBL gene, which was predicted to affect the mRNA splicing. The same variant was not detected in either parent. The variant was not recorded in ExAC, 1000G and dbSNP databases. Comprehensive analysis showed that the variant was deleterious and may result in skipping of exon 31 during mRNA splicing. CONCLUSION The fetus was diagnosed with Cornelia de Lange syndrome type 1. Splicing variant identified by WES may be verified by minigene assay in vitro, which can provide more evidence for the prediction of its pathogenicity.
Cell Cycle Proteins/genetics* ; De Lange Syndrome/genetics* ; Female ; Fetus ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis ; RNA, Messenger

OBJECTIVE: To explore the genetic basis for a patient with Alport syndrome (AS) and confirm the existence of a splicing variant. METHODS: An AS patient diagnosed at the Affiliated Hospital of Inner Mongolia Medical University on January 8, 2021 for significant proteinuria and occult hematuria was selected as the study subject. Clinical data was collected. Peripheral blood samples were collected for the extraction of genomic DNA. Whole exome sequencing and Sanger sequencing were carried out to identify potential genetic variants. An in vitro experiment was also conducted to verify the abnormal mRNA splicing. Bioinformatic software was used to analyze the conservation of amino acids of the variant sites and simulate the 3D structure of the variant collagen IV protein. Immunofluorescence and immunohistochemistry were carried out on renal tissues from the patient to confirm the presence of AS kidney injury. RESULTS: The patient, a 21-year-old male, had a 24-hour urine protein of 3.53 g/24 h, which fulfilled the diagnostic criteria for proteinuria. His blood uric acid has also increased to 491 μmol/L. DNA sequencing revealed that he has harbored a c.835-9T>A splice variant of the COL4A5 gene, which was not found in either of his parents. In vitro experiment confirmed that the variant has removed 57 bp from the exon 15 of the mRNA of the COL4A5 gene. The deletion may cause loss of amino acid residues from positions 279 to 297, which in turn may affect the stability of the secondary structure of the α5 chain encoded by the COL4A5 gene. The amino acids are conserved across various species. The result of homology modeling indicated that the trimerization of Col-IV with the mutated α5 chain could be achieved, however, the 3D structure was severely distorted. The AS kidney damage was confirmed through immunofluorescence assays. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.835-9T>A variant was classified as likely pathogenic (PVS1_Moderate+PS3_Moderate+PM2_Supporting+PS2+PP3+PP4). CONCLUSION The c.835-9T>A variant of the COL4A5 gene probably underlay the AS in this patient. In vitro experiment has confirmed the abnormal splicing caused by the variant. Histopathological examination of the kidney tissue has provided in vivo evidence for its pathogenicity. Above finding has expanded the mutational spectrum of the COL4A5 gene.
Humans ; Male ; Young Adult ; Amino Acids ; China ; Collagen Type IV/genetics* ; Exons ; Nephritis, Hereditary/genetics* ; RNA Splicing

BACKGROUND:With the aging of the population,the number of joint replacement operations is increasing,and correspondingly,the number of joint revision operations is also increasing.Qualitative and quantitative analysis of the current research status,research hotspots,and research frontiers in the field of joint revision is of great significance. OBJECTIVE:To perform visual analysis of the related literature in the field of joint revision in recent 20 years through bibliometrics,explore the research hot spots and dynamic trends in this field in order to provide a reference for further research. METHODS:Computer searches of CNKI,VIP,and WanFang Data from January 1,2003 to December 31,2022 were conducted to include relevant literature on joint revision.Duplicate data were removed using Note Express(3.9.0.9588)software.The scientific knowledge map was drawn by using CiteSpace(6.2.R6),VOS viewer(1.6.20),and Excel(2016)software on the number of papers published,the cooperative network of authors and institutions,the co-occurrence,emergence and clustering of keywords. RESULTS AND CONCLUSION:(1)A total of 1 806 articles were included.In the past 20 years,the overall trend of the annual publication volume in this field tended to be stable.(2)Analysis of the collaborative network showed that the author with the most publications and the highest intermediary centrality was Zhou Yixin;the institution with the most publications was Beijing Jishuitan Hospital,where Zhou Yixin worked,and the institution with the highest intermediary centrality was the General Hospital of the Chinese People's Liberation Army.(3)Keyword analysis showed that the research focus was mainly on hip joint,infection,rehabilitation nursing,bone defect,and prosthesis loosening.(4)The visual analysis of the literature in the field of joint revision clarifies the context for the research in this field,provides research ideas and methods for many scholars,and reveals the research trend and frontier hot spots in this field.

Objective:To evaluate the anesthetic effect of remazolam when combined with sufentanil in elderly patients with liver cirrhosis and esophageal and gastric varices undergoing endoscopic sclerotherapy.Methods:A total of 150 cirrhotic patients with liver cirrhosis and esophageal and gastric varices, regardless of gender, aged 65-80 yr, with body mass index of 18-24 kg/m 2, of American Society of Anesthesiologists Physical Status classification Ⅱor Ⅲ, who underwent endoscopic sclerotherapy under non-intubated general anesthesia from March 2022 to September 2023 in our hospital, were selected and divided into 2 groups ( n=75 each) by a random number table method: sufentanil plus propofol group (PS group) and sufentanil plus remazolam group (RS group). Anesthesia was induced with intravenous propofol 1-2 mg/kg and sufentanil 0.1 μg/kg and maintained by intravenous infusion of propofol 4-10 mg·kg -1·h -1 in PS group. Anesthesia was induced with intravenous remimazolam 0.1-0.2 mg/kg and sufentanil 0.1 μg/kg and was maintained with intravenous infusion of remimazolam 0.5-2.0 mg·kg -1·h -1 in RS group. BIS values were maintained between 40 and 60 during operation in both groups. Endoscopy was placed when the patients lost consciousness (modified observer′s assessment of alertness/sedation score ≤1). Sclerosing agent laurosinol injection was injected into esophageal submucosal varices in both groups. The time to loss of consciousness and recovery of consciousness, intraoperative body movement and cardiovascular events, and postoperative hypoxemia and nausea and vomiting were recorded. The operator-patient satisfaction was assessed by the visual analogue scale. Results:Compared with PS group, no significant changes were found in the incidence of intraoperative bradycardia, time to loss of consciousness and time to recovery of consciousness( P>0.05), the incidence of intraoperative hypotension was significantly decreased, the incidence of postoperative hypoxemia and nausea and vomiting was decreased, and the satisfaction scores for operators and patients were increased in RS group ( P<0.05). No obvious body movement was found in the two groups. Conclusions:Sufentanil combined with remifentanil provides better anesthetic effect than sufentanil combined with propofol in elderly patients with esophageal and gastric varices undergoing endoscopic sclerotherapy.