Analysis of a Chinese pedigree affected with Hereditary FⅫ deficiency due to compound heterozygous variants of F12 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the laboratory phenotype and molecular pathogenesis in a Chinese pedigree affected with Hereditary coagulation factor Ⅻ (FⅫ) deficiency.@*METHODS@#A male proband admitted to Ningbo No.2 Hospital on July 17, 2021 due to chronic gastritis and members of his pedigree (7 individuals from three generations) were selected as the study subjects. Prothrombin time (PT), activated partial thromboplastin time (APTT), FⅧ activity (FⅧ: C), FⅨ activity (FⅨ: C), FⅪ activity (FⅪ: C), FⅫ activity (FⅫ: C), and FⅫ antigen (FⅫ: Ag) were determined. All of the exons, exon-intronic boundaries, as well as the 5'- and 3'-untranslated regions of the F12 gene were subjected to Sanger sequencing. Candidate variants were verified by cloning sequencing. The effect of candidate variants on the protein function was analyzed by bioinformatics software.@*RESULTS@#The proband, a 47-year-old male, had significantly prolonged APTT (180.0 s) and decreased FⅫ:C and FⅫ:Ag levels (< 1%). His father, mother, brother and two sons also showed certain degrees of reduction. Genetic testing revealed that the proband has harbored compound heterozygous variants of the F12 gene, namely c.1092_1093insC (p.Lys365Glnfs*69) in exon 10 and c.1792_1796delGTCTA (p.Val579Hisfs*32) in exon 14. His mother and elder son were heterozygous for the c.1092_1093ins variant, whilst his father, brother, and younger son were heterozygous for the c.1792_1796delGTCTA variant. Analysis of the promoter region of exon 1 also showed that the proband and both sons had harbored a 46T/T polymorphism, whilst other family members were 46C/T. Bioinformatic analysis suggested that the p.Val579 is a highly conserved site. Protein model analysis showed that, with the p.Val579Hisfs*32 variant, a benzene ring was added and the hydrogen bond of surrounding amino acids was changed. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.1792_1796delGTCTA was classified as a pathogenic variant (PVS1+PM2_Supporting+PM4).@*CONCLUSION@#The c.1092_1093insC (p.Lys365Glnfs*69) and c.1792_1796delGTCTA (p.Val579Hisfs*32) compound heterozygous variants of the F12 gene probably underlay the decreased FXII levels in this pedigree. Above finding has also enriched the mutational spectrum for FⅫ deficiency.

Efficacy and Mechanism of Zhuang Nationality Medical Lotus Needle Plus Back Cupping Therapy for Allergic Rhinitis / 广州中医药大学学报

Objective The effectiveness of Zhuang nationality medical lotus needle plus back cupping therapy ( Zhuang needle-cupping therapy) , Flixonase aqueous nasal spray and cetirizine tablets in treating allergic rhinitis (AR) was compared for the exploration of the therapeutic mechanism of Zhuang needle-cupping therapy. Methods A total of 200 recruited AR patients were randomly divided into four groups in the proportion of 1:1:1:1. The four groups were Zhuang needle-cupping therapy group, cetirizine group, Flixonase group and blank control group. The blank control group had no medication, and the patients of the other three medication groups were given the corresponding treatment. Ten days constituted one treatment course, and interval between two courses lasted one week. After two courses, the therapeutic effect was evaluated. The changes of specific IgE (S-IgE), leukotriene (LT), interleukin 4(IL-4), IL-9 mRNA, interferon gamma (IFN-γ), Thl / Th2 cells, and Th17 cytokine ( IL-17) were observed before and after treatment. Results ( 1) After two treatment courses, Zhuang needle-cupping therapy group had better therapeutic effect than cetirizine group , Flixonase group and blank control group, and the therapeutic effect of cetirizine group and Flixonase group was better than the blank control group (P0.05). ( 2) After treatment, the levels of S-IgE, LT, IL-9 mRNA, IL-4 and IL-17 were decreased, and IFN-γ and Th1/Th2 levels were increased in the three medication groups ( P0.05). The results of inter-group comparison after treatment showed that Zhuang needle-cupping therapy group had better effect on improving S-IgE, LT, IFN-γand Th1/Th2 than cetirizine group and Flixonase group (P<0.05). (3) During the trial, no adverse reaction was found. Conclusion Zhuang needle-cupping therapy exerts certain therapeutic effect for AR, and the mechanism may be related with the inhibition of S-IgE, LT, IL-9 mRNA and IL-17 expression, and with the regulation of Th1/Th2 imbalance by decreasing TH2 cytokine level and increasing Th1 cytokine level.

16S rRNA Methylase Gene and Aminoglycoside-modifying Enzyme Genes in Pseudomonas aeruginosa Isolated from Burned Patients / 中华医院感染学杂志

OBJECTIVE To investigate the 16S rRNA methylase gene and aminoglycoside-modifying enzyme genes in Pseudomonas aeruginosa isolated from burned patients. METHODS GNS-448 and K-B tests were performed to detect the susceptibility to 19 kinds of antimicrobial agents against these strains. 16S rRNA methylase gene and aminoglycoside-modifying enzyme genes were amplified by polymerase chain reaction (PCR) and verified by DNA sequencing. RESULTS The 32 isolated strains were all resistant to ampicillin,cefuroxime,cefoxitin,SMZ-TMP,The sensitive rates to amikacin and gentamicin were 68% and 46.9%,respectively. The resistant rates to imipenem and meropenem were 68.8% and 59.4%,respectively. The 16S rRNA methylase gene and aminoglycoside-modifying enzyme genes including aac(6')-Ⅰb,aac(6')-Ⅱ,ant(3″)-Ⅰ,ant(2″)-Ⅰ and rmtB were found and positive rates were 9.4%,3.1%,28.1%,25.0% and 3.1%,respectively. A novel subtype of aac(6')-Ⅰb was reported firstly. CONCLUSIONS There are high positive percentage of 16S rRNA methylase gene and aminoglycoside-modifying enzyme genes in P. aeruginosa isolated from burned patients. P. aeruginosa resistance to aminoglycoside relates to the existence of 16S rRNA methylase gene and aminoglycoside-modifying enzyme genes.

Clinical Studies on Effect of Allergic Rhinitis Oral Liquid on Perennial Allergic Rhinitis / 广州中医药大学学报

[Objective] To observe the effect of Allergic Rhinitis Oral Liquid (AROL) on perennial allergic rhinitis (PAR) and to explore its therapeutic mechanism. AROL, composed of modified Guizhi Tang and Yupingfeng San, has the actions of strengthening spleen and lung, replenishing Qi and consolidating superficies and dispelling pathogens and dredging orifices. [Methods] One hundred and twenty-nine cases of confirmed PAR were randomized into Group A (n=43), Group B (n=43) and Group C (n=43). Group A was treated with AROL, Group B with Biyankang Tablets and Group C with normal saline. Three groups were treated for 4 weeks as one treatment course, and another treatment course was carried out one week after interval. Therapeutic effect were observed after treatment and serum levels of interleukin-4 (IL-4) and specific IgE antibody were detected. [Results] The total effective rate was 93.02% in Group A (P

Detection of qacE△1-sul1 Gene in Pseudomonas aeruginosa Isolated from Burned Patients and Its Clinical Significance / 中华医院感染学杂志

OBJECTIVE To investigate the disinfectant-resistant gene qacE△1-sul1 in Pseudomonas aeruginosa isolated from burned patients. METHODS GNS-448 and K-B tests were performed to detect the susceptibility of 19 kinds of antimicrobial agents against these strains. Genotype was analyzed by polymerase chain reaction(PCR) and verified by DNA sequencing. RESULTS The 32 strains isolated were all resistant to ampicillin,cefuroxime,cefoxitin,SMZ/TPM. The sensitive rates to amikacin and gentamicin were 68.0%,and 46.9%,respectively,the resistant rates to imipenem and meropenem were 68.8% and 59.4%,respectively. The positive rate of gene qacE△1-sul1 was 50.0%. CONCLUSIONS The resistance of P. aeruginosa isolated from burned patients is a serious issue.There is high positive percentage of qacE△1-sul1 gene in P. aeruginosa isolated from burned patients.

Quantitation of c-erbB-2 in patients with breast cancer by using fluorogenic quantitative polymerase chain reaction method / 中国病理生理杂志

AIM: To establish a fluorogenic quantitative polymerase chain reaction (FQ-PCR) method for the routine examination of c-erbB-2 gene expression in breast cancer. METHODS: The c-erbB-2 standard gene was obtained by in vitro amplification of cloned c-erbB-2 fragment in plasmid PGEM-T easy vector. FQ-PCR product was detected by using a 7700 ABI PRISM sequence detector system and c-erbB-2 standard curve was obtained to quantity c-erbB-2 in unknown samples. RESULTS: “S” kinetics curve of FQ-PCR amplification was generated by relating the fluorescence signal intensity (△Rn) to the cycle number. The standard curve of c-erbB-2 was constructed by the linear relationship between the cycle threshold (ct) and the log of starting copy number. The high correlation (0.999) revealed the reliability of FQ-PCR. CONCLUSION: The FQ-PCR is a rapid, sensitive, reliable method for quantity of c-erbB-2 gene expression.