OBJECTIVE: To explore the clinical manifestations and genetic etiology of a child with Progressive familial intrahepatic cholestasis (PFIC2). METHODS: From April 2024 to June 2024, a child with jaundice, hepatomegaly and abnormal liver function who was repeatedly admitted to the First Department of Pediatrics of Qinzhou Maternal and Child Health Care Hospital was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples were collected from the child and her parents. Genomic DNA was extracted for trio-whole exome sequencing, the candidate variant was verified by Sanger sequencing and bioinformatic analysis using REVEL, BLAST/BLAT, Swiss-Model and Swiss-Pdb Viewer software. This study was approved by the Medical Ethics Committee of the Qinzhou Maternal and Child Health Care Hospital (Ethics No.: L20240116). RESULTS: The child was a 1.5-month-old female. Her main clinical manifestations included jaundice, hepatomegaly, brownish urine and earth-like stool. Laboratory examination showed increased levels of bilirubin, mainly direct bilirubin, increased aminotransferase, especially glutamic oxalacetic aminotransferase, accompanied by increased bile acid. Genetic testing revealed that the she has harbored a homozygous c.3410T>G (p.V1137G) variant of the ABCB11 gene, for which both of her parents were heterozygous carriers. The variant was unreported previously, and was predicted to be pathogenic based on REVEL. Prediction with BLAST/BLAT software showed that the amino acids were highly conserved among different species. Swiss-Pdb Viewer software predicted that the variant has resulted in changes in hydrogen bonds between amino acids. According to the guidelines from the American Collage for Medical Genetics and Genomics (ACMG), the variant was determined to be likely pathogenic (PM1+PM2_Supporting+PM3_Supporting+PP3_Moderate). CONCLUSION The homozygous variant of the ABCB11 gene may be the genetic cause of this child. Genetic testing is helpful for confirming the diagnosis and enrich the mutational spectrum of the ABCB11 gene.
Humans ; Cholestasis, Intrahepatic/genetics* ; Female ; Infant ; ATP Binding Cassette Transporter, Subfamily B, Member 11/genetics* ; Homozygote ; Mutation

Objective To monitor the antifungal resistance of clinical isolates of Candida spp.in the East China region.Methods MALDI-TOF MS or molecular methods were used to re-identify the strains collected from January 2018 to December 2022.Antifungal susceptibility testing was performed using the broth microdilution method.The susceptibility test results were interpreted according to the breakpoints of 2022 Clinical and Laboratory Standards Institute(CLSI)documents M27 M44s-Ed3 and M57s-Ed4.Results A total of 3 026 strains of Candida were collected,65.33％of which were isolated from sterile body sites,mainly from blood(38.86％)and pleural effusion/ascites(10.21％).The predominant species of Candida were Candida albicans(44.51％),followed by Candida parapsilosis complex(19.46％),Candida tropicalis(13.98％),Candida glabrata(10.34％),and other Candida species(0.79％).Candida albicans showed overall high susceptibility rates to the 10 antifungal drugs tested(the lowest rate being 93.62％).Only 2.97％of the strains showed dose-dependent susceptibility(SDD)to fluconazole.Candida parapsilosis complex had a SDD rate of 2.61％and a resistance rate of 9.42％to fluconazole,and susceptibility rates above 90％to other drugs.Candida glabrata had a SDD rate of 92.01％and a resistance rate of 7.99％to fluconazole,resistance rates of 32.27％and 48.24％to posaconazole and voriconazole non-wild-type strains(NWT),respectively,and susceptibility rates above 90％to other drugs.Candida tropicalis had resistance rates of 29.55％and 26.24％to fluconazole and voriconazole,respectively,resistance rates of 76.60％and 21.99％to posaconazole and echinocandins non-wild-type strains(NWT),and a resistance rate of 2.36％to echinocandins.Conclusions The prevalence and species distribution of Candida spp.in the East China region are consistent with previous domestic and international reports.Candida glabrata exhibits certain degree of resistance to fluconazole,while Candida tropicalis demonstrates higher resistance to triazole drugs.Additionally,echinocandins resistance has emerged in Candida albicans,Candida glabrata,Candida tropicalis,and Candida parapsilosis.

OBJECTIVE:To optimize the clarification and purification technology of Perillae folium extract. METHODS:The effects of 3 clarification and purification methods as chitosan flocculation clarification,ZTC 1+1-Ⅱflocculation clarification,water precipitation on retention rate of total flavonoids and removal rate of solid of Perillae folium extract were compared to screen suit-able clarification and purification technology. With the retention rate of total flavonoids and removal rate of solid as comprehensive evaluation index,single factor and orthogonal test were designed to investigate the optimal value of concentration proportion,the amount of the flocculant,flocculation temperature and whisking speed in optimal clarification and purification method. RESULTS:Among 3 methods,the chitosan flocculation clarification was the best with concentration proportion of 1∶4,chitosan of 1.0 g/L, flocculation temperature at 60 ℃,whisking speed of 100 r/min,whisking time of 4 min,standing time of 12 h. Under the condi-tion of optimal processing,the retention rate of total flavonoids was (85.1 ± 0.75)%,and the removal rate of solid was (24.6 ± 1.33)%(n=5). CONCLUSIONS:Chitosan flocculation can be used to effectively remove the impurity of Perillae folium extract, and optimized clarification and purification technology is stable and feasible.

Objective To investigate traditional Chinese medical emotional intervention on the cognition function of senile patients after abdominal surgery. Methods Seventy senile patients having elective abdominal operation were randomized into intervention group and control group, 35 cases in each group. The control group received routine peri-operative nursing, and the intervention group was given routine peri-operative nursing and emotional intervention based on the theory of traditional Chinese medicine. The cognition function was evaluated with mini-mental state examination (MMSE) on preoperative day 1, postoperative day 3 and 7, and serum S100βprotein level was detected before operation and on postoperative day 7. Results (1)Time for recovery from general anesthesia in the intervention group was much shortened as compared with that of the control group(P<0.05). (2)On postoperative day 3, the incidence of postoperative cognitive dysfunction(POCD) was much lower than that of the control group(P<0 . 0 5), and on postoperative day 7 , the difference of POCD incidence was insignificant between the two groups(P>0.05). (3) On postoperative day 7, serum S-100β protein level in the two groups was increased as compared with that before treatment(P<0.05), but the difference between the two groups was insignificant(P>0.05). Conclusion Traditional Chinese medical emotional intervention has an effect on shortening time for recovery from general anesthesia and decreasing POCD incidence, but has no effect on POCD incidence and serum S100βprotein level on postoperative day 7.

This study was designed to construct THY1 eukaryotic expression plasmid and assess its effects on epithelial ovarian cancer cell line SKOV3. The gene fragment coding for THY1 was inserted into pcDNA3.1(+) for constructing the recombinant plasmid pcDNA3.1(+)-THY1. The eukaryotic expression plasmid was analyzed by PCR, restriction endonucleases digestion and DNA sequencing. The recombinant plasmid pcDNA3.1(+)-THY1 was transfected into SKOV3 cells by liposome protocol. The experimental cells were classified into three groups: SKOV3-THY1, SKOV3-Null and SKOV3. The pcDNA3.1(+)-THY1 has been transfected into SKOV3 cells by RT-PCR and immunohistochemistry. The cell inhibitory rate of SKOV3-THY1 (56.6% at the fifth day) was higher than that of SKOV3-Null (12.5%), there was significant difference between them (P<0.05). The ratios of G1 phase of SKOV3 cells after transfection were increased and the ratios of S phase were decreased significantly. There was significant difference between SKOV3-THY1 and SKOV3-Null or SKOV3 (P<0.05), but there was no significant difference between SKOV3-Null and SKOV3 (P>0.05). We have constructed the recombinant plasmid pcDNA3.1(+)-THY1 sucessfully. THY1 transfection can inhibit the growth of SKOV3 cells in vitro.
Cell Line, Tumor ; Cell Proliferation ; drug effects ; Cloning, Molecular ; Female ; Genetic Vectors ; genetics ; Humans ; Ovarian Neoplasms ; pathology ; Plasmids ; genetics ; Recombinant Proteins ; biosynthesis ; genetics ; Thy-1 Antigens ; biosynthesis ; genetics ; Transfection