OBJECTIVE:To systematically review the efficacy of ursodeoxycholic acid(UDCA)in the prevention ofulcerative colitisassociated colorectal cancer (UC-CRC) and dysplasia (UC-Dys),and provide evidence-based reference for clinic. METH-ODS:Retrieved from Cochrane Library,EMBase,PubMed,CJFD,CBM,VIP and Wanfang Database,randomized controlled tri-als(RCT)or cohort studies about UDCA(test group)versus placebo(control group)in the prevention of UC-CRC and UC-Dys were collected. Meta-analysis was performed by using Rev Man 5.3 software after quality evaluation and data extraction by Co-chrane Manual 5.1.0. RESULTS:Totally 7 studies(3 randomized controlled trials and 4 cohort studies)were included in the analy-sis,involving 672 patients. Results of Meta-analysis of 3 RCT showed that there was no significant difference in the incidence of UC-CRC and UC-Dys between 2 groups [OR=0.95,95%CI(0.17,5.12),P=0.95];results of Meta-analysis of 4 cohort studiess-howed that there was no significant difference in the incidence of UC-CRC and UC-Dys between 2 groups[OR=0.74,95%CI(0.30, 1.84),P=0.52]. Results of subgroup analysis showed,the incidence of UC-CRC and UC-Dys in test group with low-dose UDCA (<15 mg/kg) was significantly lower than control group,the difference was statistically significant [OR=0.19,95%CI(0.08, 0.49),P<0.001];there were no signifficant diferences in the incidence of UC-CRC and UC-Dys in high-dose UDCA group[OR=1.97,95%Cl(0.53,7.25),P=0.31](≥15 mg/kg). There was no significant difference in the incidence of adverse reactions(P>0.05). CONCLUSIONS:UDCA can not decease the incidence of UC-CRC and UC-Dys,it only prompts a possible trend toward decreased UC-CRC and UC-Dys risk in low-doseUDCA.

This study was aimed to find the fragmentation pathways of Schisandrin B using the Discovery Studio by electrospray ionization mass spectrometry (ESI-MSn). The first and multi-stage mass spectrum diagrams were obtained. The results showed that mass spectrometry fragments of Schisandrin B was analyzed under the positive mode, the cracking rings are mainly occurred, and free radicals such as H2O, -CH3 and -OCH3 were lost. It was concluded that this study enriched the mass spectral decomposition, and provided basis for the study on chemical constituents of lignan compounds.

OBJECTIVE: To detect the mutation site in a pedigree affected with autosomal dominant polycystic kidney disease (ADPKD) and verify its impact on the protein function. METHODS: Peripheral blood samples were collected from the proband and his pedigree members for the extraction of genomic DNA. Mutational analysis was performed on the proband through whole-exome sequencing. Suspected variant was verified by Sanger sequencing. A series of molecular methods including PCR amplification, restriction enzyme digestion, ligation and transformation were also used to construct wild-type and mutant eukaryotic expression vectors of the PKD2 gene, which were transfected into HEK293T and HeLa cells for the observation of protein expression and cell localization. RESULTS: The proband was found to harbor a c.2051dupA (p. Tyr684Ter) frame shift mutation of the PKD2 gene, which caused repeat of the 2051st nucleotide of its cDNA sequence and a truncated protein. Immunofluorescence experiment showed that the localization of the mutant protein within the cell was altered compared with the wild-type, which may be due to deletion of the C-terminus of the PKD2 gene. CONCLUSION The c.2051dupA (p. Tyr684Ter) mutation of the PKD2 gene probably underlay the pathogenesis of ADPKD in this pedigree.
DNA Mutational Analysis ; Female ; Frameshift Mutation ; HEK293 Cells ; HeLa Cells ; Humans ; Male ; Pedigree ; Polycystic Kidney, Autosomal Dominant/physiopathology* ; Protein Kinases/genetics* ; Protein Transport/genetics* ; Whole Exome Sequencing

OBJECTIVE: To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly. METHODS: The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree. RESULTS: The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5). CONCLUSION The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.
China ; Female ; Humans ; Mutation ; Pedigree ; Polydactyly/genetics* ; Thumb ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS). METHODS: Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing. Candidate variant was verified by Sanger sequencing of his parents and healthy controls. RESULTS: The patient was found to harbor a heterozygous c.420C>G (p.Asn140Lys) variant of the SOD1 gene. The same variant was not detected in his parents and 100 healthy controls. The variant has not been included in HGMD, dbSNP and other databases. CONCLUSION The c.420C>G variant of the SOD1 gene may underlie the ALS in this patient. Above finding has enriched the spectrum of SOD1 gene variants.
Amyotrophic Lateral Sclerosis/genetics* ; China ; Heterozygote ; Humans ; Superoxide Dismutase-1/genetics* ; Whole Exome Sequencing

Objective To estimate the curative effect of non-gastrointestinal decompression in laproscopic colorectal surgery. Methods By using the single-blind-random test and prospective study, 55 patients were divided into two groups, experimental group and matched group. The difference of operating time, gastrointestinal function recovery time, adverse effect, complication, average length of hospital stay between two groups were observed and evaluated. Results The difference of operating time, gastrointestinal function recovery time, adverse effect, complication, average length of hospital stay between two groups were not statistically significant(P>0.05). The incidence rate of sore throat and cough and expectoration difficulty after operation was significantly lower in the experimental group (the rate was respectively 16.0% vs 77.7% and 8.0% vs 50.0, P<0.05). However, The incidence rate of nausea and vomiting, abdom-inal distension was not statistically significant(P>0.05). Conclusion In the perioperative period of laproscopic colorectal surgery, non-gastrointestinal decompression appears to be security and feasible.

Objective:This study aims to explore the prevalence of hepatitis E virus (HEV) infection in patients and the screening value of serological indicators for HEV infection patients.Methods:Retrospective analysis was conducted on 97 440 cases of anti-HEV IgM and IgG simultaneously tested in two Beijing hospitals from January 1, 2018 to August 31, 2023. Among them, there were 61 005 males and 36 435 females, with an average age of 51.65±13.05 years old. According to the positivity of anti HEV specific antibodies, they were divided into anti-HEV IgM positive group (3 588 cases), anti-HEV IgG positive group (18 083 cases), and anti-HEV antibody negative group (78 892 cases). Results of HEV RNA, liver function, AFP, PIVKA-Ⅱ and PT were collected, and their basic clinical information were recorded. The prevalence of HEV infection in patients, as well as the relationship between the positivity of anti-HEV specific antibodies and the patient′s age group, HEV RNA, and clinical characteristics were analyzed.Results:Among 97 440 patients who tested anti-HEV IgM and IgG simultaneously, the positivity rate of anti-HEV IgM was 3.68% (3 588/97 440), and was 18.56% for anti-HEV IgG (18 083/97 440). The overall positivity rates of anti-HEV IgM in two Beijing hospitals from 2018 to 2023 were 2.51%, 2.53%, 3.02%, 4.59%, 5.72%, and 4.26% ( χ2=1 401.73, P<0.001), while the positivity rates of anti-HEV IgG were 12.56%, 12.32%, 12.85%, 22.65%, 27.42%, and 26.66% ( χ2=1 058.29, P<0.001). These rates showed a gradual increase until 2023 when a decline was observed. The positivity rates of anti-HEV IgM (2.28%, 3.60%, 4.47%) ( χ2=89.62, P<0.001) and IgG (4.71%, 17.86%, 25.94%) ( χ2=2 017.32, P<0.001) increased with age in patients who aged 1-30, >30-60, and over 60 years old. The age and ALB values of patients in the anti-HEV IgM positive group were lower than the IgG-positive group, while the proportion of males, TBIL, ALT, AFP and PT values were higher than the IgG-positive group, and the differences were statistically significance ( P<0.05). Furthermore, patients in both the anti-HEV IgM and IgG positive groups had higher age, male proportion, TBIL, ALT, AFP, PIVKA-Ⅱ, and PT values than the anti-HEV negative group. Additionally, both groups had lower ALB values than the anti-HEV negative group, all of which were statistically significant ( P<0.05). 2 162 HEV infected patients were grouped based on HEV RNA positivity. The proportion of anti-HEV IgM single positive, IgG single positive, IgM+IgG double positive, and antibody negative patients in the HEV RNA positive group were 5.42% (18/332), 3.62% (12/332), 90.36% (300/332), and 0.60% (2/332), respectively. Among them, the proportion of anti-HEV IgM+IgG double positive patients in the HEV RNA positive group was higher than that in the HEV RNA negative group ( χ2=302.87, P<0.001), while the proportion of anti-HEV IgG single positive ( χ2=174.36, P<0.001) and anti-HEV antibody negative patients ( χ2=59.28, P<0.001) were lower than that in the HEV RNA negative group, both of which were statistically significant ( P<0.001). In addition, the positive rates of HEV RNA in anti-HEV IgM positive, IgG positive, and antibody negative patients were 29.23% (318/1 088), 17.59% (312/1 774), and 0.65% (2/306), respectively. Conclusion:The HEV infection rate among patients declined in 2023. HEV infection is age-related, with older individuals being more susceptible. Abnormal liver function and jaundice were commonly observed during HEV infection. It is crucial to note that the absence of anti-HEV specific antibodies cannot rule out HEV infection; therefore, additional testing for HEV RNA and/or HEV Ag is necessary for accurate diagnosis.

Hematopoietic Stem Cell Transplantation ; Humans ; Leukemia, Myeloid, Acute ; pathology ; therapy ; Recurrence ; Transplantation, Homologous