Objective:To explore the phenotypic and genotypic characteristics of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ (FⅪ) deficiency.Methods:A female patient with FⅪ deficiency and her family members (five individuals from three generations) who presented at Quanzhou First Hospital Affiliated to Fujian Medical University on September 19, 2024 due to diarrhea and fever were selected as study subjects. A retrospective study was conducted to collect the patients′ clinical data. Peripheral venous blood samples were collected from the patient and her family members. Genomic DNA was extracted, followed by sequencing of all exons and flanking sequences of the F11 gene. Candidate variants were validated by Sanger sequencing of the family members, and their pathogenicity was classified according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Quanzhou First Hospital [Approval No.: Quanyi Lun (2024) K281]. Results:The patient exhibited significantly prolonged activated partial thromboplastin time (APTT) of 80.9 seconds, while FⅪ activity (FⅪ: C) and FⅪ antigen (FⅪ: Ag) levels were extremely low (2% and 3%, respectively). Genetic analysis revealed that the proband harbored homozygous c. 896C>G (p.Thr299Ser) missense variant in exon 9 of the F11 gene, for which her son was heterozygous. The variant was located in a highly conserved domain. Although Mutation Taster predicted it as a polymorphism, SIFT, PolyPhen-2, and LRT analyses suggested it to be likely pathogenic. Protein modeling indicated that the p. Thr299Ser variant may alter the hydrogen bonds between amino acids, thereby affecting the structure and function of the FⅪ protein. According to the ACMG guidelines, c. 896C>G was rated as a likely pathogenic variant (PM1+ PM2_Supporting+ PP1_Strong+ PP3+ PP4). Conclusion:The c. 896C>G (p.Thr299Ser) missense variant of the F11 gene probably underlay the FⅪ deficiency in this pedigree. Above finding has enriched the mutational spectrum of the F11 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.

Objective To explore the application of problem solving mode based on self-regulation theory in maintenance hemodialysis(MHD)patients.Methods The convenient sampling method was used to enroll the patients who underwent hemodialysis in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from January to October 2022.According to the random number table,they were assigned to the control group or observation group.Routine nursing was used in the control group,and the nursing care of problem-solving mode based on self-regulation theory was applied in the observation group for 4 week.Self-management behavior,volume management behavior,disease perception and learned helplessness were compared between the two groups at 4 and 12 weeks after intervention.Results Eight patients(5 cases in the control group and 3 cases in the observation group)failed to be followed up.There was no significant difference in the score of self-management behavior,volume management behavior,disease perception or learned helplessness between the two groups before the intervention(P＞0.05).At 4 and 12 weeks after the intervention,the scores of self-management behavior and volume management behavior in the observation group were significantly higher than those in the control group,while the scores of disease perception and learned helplessness in the observation group were significantly lower than those in the control group(P＜0.05).Conclusion The problem-solving mode based on self-regulation theory can improve self-management and volume management of MHD patients,reduce negative disease perception and learning helplessness,and achieve continuous improvement in cognition,psychology and behavior after the intervention.

OBJECTIVE: To explore the phenotypic and genotypic characteristics of a Chinese pedigree affected with Hereditary coagulation factor XI (FXI) deficiency. METHODS: A female patient with FXI deficiency and her family members (five individuals from three generations) who presented at Quanzhou First Hospital Affiliated to Fujian Medical University on September 19, 2024 due to diarrhea and fever were selected as study subjects. A retrospective study was conducted to collect the patients' clinical data. Peripheral venous blood samples were collected from the patient and her family members. Genomic DNA was extracted, followed by sequencing of all exons and flanking sequences of the F11 gene. Candidate variants were validated by Sanger sequencing of the family members, and their pathogenicity was classified according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Quanzhou First Hospital [Approval No.: Quanyi Lun (2024) K281]. RESULTS: The patient exhibited significantly prolonged activated partial thromboplastin time (APTT) of 80.9 seconds, while FXI activity (FXI:C) and FXI antigen (FXI:Ag) levels were extremely low (2% and 3%, respectively). Genetic analysis revealed that the proband harbored homozygous c.896C>G (p.Thr299Ser) missense variant in exon 9 of the F11 gene, for which her son was heterozygous. The variant was located in a highly conserved domain. Although Mutation Taster predicted it as a polymorphism, SIFT, PolyPhen-2, and LRT analyses suggested it to be likely pathogenic. Protein modeling indicated that the p.Thr299Ser variant may alter the hydrogen bonds between amino acids, thereby affecting the structure and function of the FXI protein. According to the ACMG guidelines, c.896C>G was rated as a likely pathogenic variant (PM1+PM2_Supporting+PP1_Strong+PP3+PP4). CONCLUSION The c.896C>G (p.Thr299Ser) missense variant of the F11 gene probably underlay the FXI deficiency in this pedigree. Above finding has enriched the mutational spectrum of the F11 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.
Adult ; Female ; Humans ; Male ; Middle Aged ; China/ethnology* ; Factor XI/chemistry* ; Factor XI Deficiency/genetics* ; Homozygote ; Pedigree ; Retrospective Studies ; East Asian People/genetics*

Objective:To explore the phenotypic and genotypic characteristics of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ (FⅪ) deficiency.Methods:A female patient with FⅪ deficiency and her family members (five individuals from three generations) who presented at Quanzhou First Hospital Affiliated to Fujian Medical University on September 19, 2024 due to diarrhea and fever were selected as study subjects. A retrospective study was conducted to collect the patients′ clinical data. Peripheral venous blood samples were collected from the patient and her family members. Genomic DNA was extracted, followed by sequencing of all exons and flanking sequences of the F11 gene. Candidate variants were validated by Sanger sequencing of the family members, and their pathogenicity was classified according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Quanzhou First Hospital [Approval No.: Quanyi Lun (2024) K281]. Results:The patient exhibited significantly prolonged activated partial thromboplastin time (APTT) of 80.9 seconds, while FⅪ activity (FⅪ: C) and FⅪ antigen (FⅪ: Ag) levels were extremely low (2% and 3%, respectively). Genetic analysis revealed that the proband harbored homozygous c. 896C>G (p.Thr299Ser) missense variant in exon 9 of the F11 gene, for which her son was heterozygous. The variant was located in a highly conserved domain. Although Mutation Taster predicted it as a polymorphism, SIFT, PolyPhen-2, and LRT analyses suggested it to be likely pathogenic. Protein modeling indicated that the p. Thr299Ser variant may alter the hydrogen bonds between amino acids, thereby affecting the structure and function of the FⅪ protein. According to the ACMG guidelines, c. 896C>G was rated as a likely pathogenic variant (PM1+ PM2_Supporting+ PP1_Strong+ PP3+ PP4). Conclusion:The c. 896C>G (p.Thr299Ser) missense variant of the F11 gene probably underlay the FⅪ deficiency in this pedigree. Above finding has enriched the mutational spectrum of the F11 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.

Objective This study aimed to investigate the therapeutic efficacy of Sanjie Quban recipe in a keloid nude mice model and its impact on transforming growth factor-β 1(TGF-β1).Methods Keloid tissue after surgical resection was subcutaneously transplanted into the backs of healthy SPF BALB/C female nude mice,aged 6～8 weeks,and a keloid nude mice model was thus established.The mice were randomly divided into three groups,the Sanjie Quban recipe group,the Asiaticoside tablet group and the control gnup,with five in each group.They were respectively treated with Sanjie Quban recipe,Asiaticoside tablets,or sterile pure water.After 28 days of continuous gavage,the keloid tissue was exfoliated and weighed,and HE staining,Masson staining,and immunohistochemical staining for TGF-β1 were conducted.Differences in keloid weight between the three groups before and after treatment were compared,as were the differences in collagen fiber,fibroblast numbers,and TGF-β1 expression between the three groups after treatment.Results The difference in keloid weight before and after treatment in the Asiaticoside tablet group was greater than that of the control group,and the weight difference before and after treatment keloid treatment was the largest in the Sanjie Quban recipe group(P＜0.01).Compared with the control group,collagen fibers in the Sanjie Quban recipe group were looser and less numerous,and fibroblasts were decreased in number.The expression of TGF-β1 in the Sanjie Quban recipe group was decreased compared with that of the control group(P＜0.01).Conclusions Sanjie Quban recipe has certain therapeutic effects on keloids.The mechanism may involve reducing the expression of TGF-βl in keloid tissue and thereby reducing the proliferation of fibroblasts and the synthesis of extracellular matrix.This study provides experimental and theoretical bases for the clinical treatment of keloids with Chinese medicine.

With the improvement of sanitation, the infection rate of hookworm is greatly reduced and the severe infected case is rarely reported. Combined morphological and molecular biological examinations, a severe hookworm infection patient was diagnosed in Department of Laboratorial Examination, Quanzhou First Affiliated Hospital of Fujian Medical University. The morphological methods such as direct fecal smear microscopy, saturated brine flotation and hookworm larvae culture methods were used to identify the eggs and larvae from stool samples of the patient. There were a large number of hookworm eggs in patient's stool samples, and the average count was 60 840 per gram by modified Kato method, which belonged to severe hookworm infection. Meanwhile, to distinguish the hookworm species, the semi-nested RT-PCR assay was employed to detect hookworm internal transcribed spacer series from eggs in patient's stool samples, and the result showed that the hookworm species was confirmed to be Necator americanus.
Ancylostomatoidea/genetics* ; Animals ; Feces ; Hookworm Infections/diagnosis* ; Humans ; Necator americanus/genetics* ; Polymerase Chain Reaction

Objective:To analyze the epidemiological characteristics of respiratory syncytial virus (RSV)-caused respiratory diseases in children in Hebei Province and the changes in peripheral blood lymphocyte subsets and inflammatory indexes.Methods:A total of 9 491 sputum specimens and 9 491 paired peripheral blood specimens were collected from children admitted to Hebei Children′s Hospital for respiratory infection in 2018. RSV-positive sputum specimens were screened by multiple detection reagents for 13 kinds of respiratory pathogens. Flow cytometry was uses to detect T and B lymphocytes and NK cells in peripheral blood samples of randomly screened RSV-positive children. Procalcitonin (PCT) was measured by Roche E411 luminescence analyzer. Hypersensitive C-reactive protein (hs-CRP) was detected by Roche Cobas 8000 C701 biochemical analyzer. White blood cells (WBC) were measured by Sysmex XN-BN3 hematometer.Results:The positive rate of RSV in children with respiratory diseases was 13.08% in Hebei Province in 2018. There were significant differences in RSV-positive rates among different age groups (χ 2=479.297 6, P<0.000 1). The positive rate of RSV decreased gradually with age (χ 2=-20.282 7, P<0.000 1) and was higher in male than in female (χ 2=34.552 7, P<0.000 1). The incidence of co-infection of RSV with other respiratory pathogens was 29.49% (366/1 241), mainly caused by human rhinovirus (HRV, 150/1 241) and adenovirus (ADV, 40/1 241). The main epidemic seasons of RSV infection were winter and spring. The epidemic trends of simple RSV infection and co-infection were consistent. There were significant differences in inflammatory indexes, WBC ( P<0.01), CD4 + ( P=0.015) and CD4 + /CD8 + cells ( P=0.016) between simple RSV infection and co-infection groups. Conclusions:RSV was a common pathogen causing respiratory diseases in children in Hebei Province. The younger the children were, the more likely they were to be infected with RSV. RSV infection was easily complicated by HRV or ADV infection. The epidemic seasons of RSV infection in Hebei were winter and spring. Both simple infection and co-infection of RSV might result in immune dysfunction.

[Abstract] Objective: To investigate the effects of interleukin-18 over-expression on the in vitro and in vivo proliferation of human colorectal cancer (CRC) HCT-116 cells. Methods: A recombinant lentivirus vector containing human IL-18 gene fragment was constructed. Then theCRC HCT-116 cell line stably expressing human IL-18 (HCT-116/IL-18) was obtained by recombinant lentivirus transfection. In vitro proliferation of HCT-116/IL-18 cells and wild-type HCT-116 cells was determined by CCK-8 method. The expressions of IL-18, Cyclin D1, proliferating cell nuclear antigen (PCNA) and DNA damage repair enzyme (PARP) were detected by Western blotting. HCT-116 and HCT-116/IL-18 cells were inoculated into left and right axillas of Balb/c nude mice, respectively. Then the tumorigenicity and the growth of transplanted tumor were observed. The expressions of IL-18 and PCNAin xenograft tissues were detected by immunohistochemistry analysis. Results: IL-18 gene over-expression in HCT-116 cells could delay the proliferation of HCT-116 cells (P<0.05 or P<0.01). PARP expression was increased significantly and PCNA, Cyclin D1 expression were decreased in HCT-116/ IL-18 cells as compared to that of HCT-116 cells (P<0.01).The tumorigenicity of HCT-116/IL-18 cell was significantly decreased in nude mice with a tumor-formation rate of 43%; Compared with control group, HCT-116/IL-18cell line had a longer tumorigensis time, slower growth and smaller tumor volume; moreover, PCNAprotein expression was down-regulated in HCT-116/IL-18 xenograft tissuesas shown by immunohistochemistry analysis (P<0.01). Conclusion: IL-18 over-expression inhibited the growth and proliferation of HCT-116 cells both in vitro and in vivo, and the mechanism might berelated with IL-18 regulating cell cycle and promoting DNA damage.

Objective To prospectively compare cadmium-zinc-telluride (CZT) SPECT gated myocardial perfusion imaging (GMPI),conventional SPECT MPI and cardiac MRI for the assessment of left ventricular volume and ejection fraction in patients with heart failure.Methods From July 2016 to October 2016,a total of 35 patients (27 males,8 females,average age:(52.7±14.9) years) with heart failure were consecutively included.All patients underwent CZT SPECT GMPI,conventional SPECT GMPI and cardiac MRI within 7 d.LVEDV,LVESV and LVEF of three imaging modalities were calculated.One-way analysis of variance,Pearson correlation analysis and Bland-Altman analysis were used.Results CZT SPECT showed excellent correlation with conventional SPECT for LVEDV,LVESV and LVEF (r values:0.983,0.986 and 0.910,respectively;all P＜0.001).Bland-Altman analysis revealed good agreement between CZT SPECT and conventional SPECT for LVEDV,LVESV and LVEF.The correlation between CZT SPECT and cardiac MRI for LVEDV,LVESV and LVEF were all significant (r values:0.864,0.896 and 0.836,respectively;all P＜0.001).Compared with cardiac MRI,CZT SPECT showed systemic underestimation of LVEDV and LVESV and good agreement of LVEF by Bland-Altman analysis.Conclusions CZT SPECT has high clinical value for patients with heart failure.Despite underestimating LVEDV and LVESV,it correlated well with cardiac MRI.It also has a good agreement with conventional SPECT on left ventricular volume and LVEF.

Objective To investigate the antitumor effects of IL-18 gene transfected T cells on pancreatic cancer cell SW-1990.Methods Construction of IL-18 contained recombinant lentivirus using PCR method and packaged at HEK293T cell, then transfected the human T cells and evaluated the antitumor effects when cocultured with SW-1990.Results The IL-18 gene contained recombinant lentivirus was successfully constructed and packaged, and transfected the T cells, the LDH secretion and IL-2 and IFN-γ content all increased significantly (P<0.01) when cocultured with SW-1990 cell.Conclusions T cells transfected with IL-18 possessed more potent antitumor effects to pancreatic cancer cell SW-1990 as compared to the regular T cells.