OBJECTIVE: To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. METHODS: A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5' and 3' untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). RESULTS: The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ:C) and FⅫ antigen (FⅫ:Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c.712_713insT (p.Cys238Leufs *73) in exon 8 and c.1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p.Cys238Leufs*73 variant, while her older son was heterozygous for the p.Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p.Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. CONCLUSION The c.712_713insT and c.1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c.712_713insT (NM_000505) was unreported previously.
Adult ; Female ; Humans ; Male ; Middle Aged ; Base Sequence ; China ; Factor XII/genetics* ; Heterozygote ; Mutation ; Pedigree ; Factor XII Deficiency/genetics* ; East Asian People

Objective To assess the effect of early nutritional intervention on the patients with respiratory diseases at nutritional risk. Methods A total of 130 patients with respiratory disease who were hospitalized in Shanghai Fifth People’s Hospital, Fudan University between May 2023 and December 2024 and had a nutritional risk screening 2002 score ≥3 points. Based on the initiation time of nutritional intervention, patients were divided into an early group (≤5 days, n＝65) and a late group (＞5 days, n＝65). Results In the early group, prealbumin (P-ALB) and retinol-binding protein (RBP) levels were significantly higher (P＜0.01), C-reactive protein (CRP), procalcitonin (PCT) levels were significantly lower after intervention (P＜0.05). Compared with the late group, the hospital costs were lower and hospital stays were shorter in the early group (P＜0.001). Spearman analysis showed ALB, P-ALB, and total protein (TP) were negatively correlated with hospital costs (r＝－0.37, －0.20, and－0.22, P＜0.05). RBP, ALB, P-ALB, and lymphocyte count (LYM) were negatively correlated with CRP (r＝－0.30, －0.26, －0.37, －0.18, P＜0.01), RBP, ALB, P-ALB, hemoglobin (HB), and TP were negatively correlated with PCT (r＝－0.23,－0.36, －0.40, －0.30, －0.19, P＜0.05). Conclusions For patients with respiratory diseases, early nutritional assessment should be underwent, and for patients with nutritional risk screening 2002 score ≥3 points, early nutritional intervention could improve the nutritional status and alleviate inflammatory response, promote recovery, shorten the hospital stays.

Objective To control the stepwise release of vascular endothelial growth factor A(VEGF-A)within the microcapsules,and to analyze the effects of the microcapsules on cellular angiogenic capability.Methods VEGF-A encapsulated poly(lactic-co-gly-colic acid)(PLGA)microcapsules were prepared using a method combining dual-channel coaxial injection and continuous flow technol-ogy.The release and degradation performance of the microcapsules were characterized using a phosphate-buffered saline(PBS)soaking method.The biocompatibility of the microcapsules was assessed through the CCK-8 method and Calcein-AM/PI staining method.The impact of microcapsule extract on cellular angiogenesis ability was examined by conducting cell scratch assays and tubule formation ex-periments.Results The microcapsules were round in shape,with their particle diameter measuring in the range of hundreds of mi-crometers.Microcapsules with a molecular weight(Mw)-12 ku can release a large amount of VEGF-A in the initial phase,while Mw-30 ku ones had the capacity to provide a stable,long-term,low-dose release of VEGF-A.Microcapsules of Mw-12 ku exhibited outstanding potential for enhancing the healing of cell scratch wounds in the initial phase.Moreover,within the 0-12 day period,the two types of microcapsule extracts significantly enhanced the ability of cells to form tubules in vitro.Conclusion This study successfully regulated the release profile of VEGF-A by adjusting the molecular weight of PLGA,achieving an initial rapid and substantial release of VEGF-A followed by a sustained slow release over time,while maintaining its biological activity throughout the process.

Objective To control the stepwise release of vascular endothelial growth factor A(VEGF-A)within the microcapsules,and to analyze the effects of the microcapsules on cellular angiogenic capability.Methods VEGF-A encapsulated poly(lactic-co-gly-colic acid)(PLGA)microcapsules were prepared using a method combining dual-channel coaxial injection and continuous flow technol-ogy.The release and degradation performance of the microcapsules were characterized using a phosphate-buffered saline(PBS)soaking method.The biocompatibility of the microcapsules was assessed through the CCK-8 method and Calcein-AM/PI staining method.The impact of microcapsule extract on cellular angiogenesis ability was examined by conducting cell scratch assays and tubule formation ex-periments.Results The microcapsules were round in shape,with their particle diameter measuring in the range of hundreds of mi-crometers.Microcapsules with a molecular weight(Mw)-12 ku can release a large amount of VEGF-A in the initial phase,while Mw-30 ku ones had the capacity to provide a stable,long-term,low-dose release of VEGF-A.Microcapsules of Mw-12 ku exhibited outstanding potential for enhancing the healing of cell scratch wounds in the initial phase.Moreover,within the 0-12 day period,the two types of microcapsule extracts significantly enhanced the ability of cells to form tubules in vitro.Conclusion This study successfully regulated the release profile of VEGF-A by adjusting the molecular weight of PLGA,achieving an initial rapid and substantial release of VEGF-A followed by a sustained slow release over time,while maintaining its biological activity throughout the process.

Objective:To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. Methods:A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5′ and 3′ untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). Results:The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ: C) and FⅫ antigen (FⅫ: Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c. 712_713insT (p.Cys238Leufs *73) in exon 8 and c. 1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p. Cys238Leufs*73 variant, while her older son was heterozygous for the p. Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p. Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. Conclusion:The c. 712_713insT and c. 1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c. 712_713insT (NM_000505) was unreported previously.

Objective:To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. Methods:A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5′ and 3′ untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). Results:The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ: C) and FⅫ antigen (FⅫ: Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c. 712_713insT (p.Cys238Leufs *73) in exon 8 and c. 1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p. Cys238Leufs*73 variant, while her older son was heterozygous for the p. Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p. Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. Conclusion:The c. 712_713insT and c. 1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c. 712_713insT (NM_000505) was unreported previously.

Objective This study aimed to explore the effects of bone morphogenetic protein 2(BMP-2)encapsula-ted in poly(lactic-co-glycolic acid)(PLGA)microcap-sules with different molecular weights on the osteogenic ability of osteoblasts.Methods PLGA microcapsules with different molecular weights(12 000,30 000)encap-sulating BMP-2,were prepared using a dual-channel mi-croinjection pump.The morphology and structure of the microcapsules were characterized by optical microscopy and scanning electron microscopy.The sustained-release performance of the microcapsules was characterized by phosphate buffered saline immersion method.The cell compatibility of the microcapsules was detected by the Calcein-AM/PI stain-ing and CCK-8 method.The chemotactic effect of BMP-2-encapsulated microcapsules on MC3T3-E1 cells after 48 h of treatment was detected by the Transwell assay.The alkaline phosphatase activity assay and Alizarin Red S staining were used to characterize the effect of microcapsules on the osteogenic ability of MC3T3-E1 cells.Results Both types of mi-crocapsules with different molecular weights exhibited smooth surfaces,as well as uniform and good cell compatibility.The chemotactic effect of the 12 000 microcapsules was outstanding.The 30 000 microcapsules had a longer sustained-release time,and the initial burst release was reduced by approximately 25%compared with the 12 000 microcapsules.In addition,30 000 microcapsules performed better in long-term osteogenesis induction than 12 000 microcapsules.Conclu-sion In this study,the release of BMP-2 is regulated by adjusting the molecular weight of PLGA,and the results indi-cate that 30 000 microcapsules can better induce the long-term osteogenic ability of MC3T3-E1 cells.

To investigate the levels and clinical significance of serum microRNA ( miR) -146a, miR-145, T-helpertype17 (Th17)/regulatory T cell (Treg) in children with respiratory syncytial virus (RSV) infectious pneumonia. The clinical data of 200 children with RSV infectious pneumonia admitted to Nantong Maternal and Child Health Hospital from June 2020 to June 2023 were retrospectively collected as the study group. At the same time, 200 children with mycoplasma pneumonia were selected as the common pneumonia group and 200 healthy children were selected as the healthy group. The levels of serum inflammatory factors [interleukin-6 (IL-6), interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α)] were detected by enzyme-linked immunosorbent assay. The expression levels of serum miR-146a and miR-145 were detected by RT-qPCR. The levels of Th17/Treg were detected by flow cytometry. The levels of miR-146a, miR-145, Th17/Treg and serum inflammatory factors were compared among the three groups. Pearson method was used to analyze the correlation between miR-146a, miR-145, Th17/Treg and serum inflammatory factors in children with RSV infectious pneumonia. The receiver operating characteristic (ROC) curve was drawn to analyze the diagnostic value of miR-146a, miR-145, Th17/Treg in children with respiratory syncytial virus infection pneumonia. The results showed that in the study group, miR-146a (2.01±0.58), miR-145 (1.81±0.46), Th17/Treg (1.09±0.31), IL-6 (7.82±2.11) ng/L and TNF-α (9.82±2.96) ng/L were higher than those in the common pneumonia group miR-146a (1.49±0.42), miR-145 (1.43±0.31), Th17/Treg (0.77±0.24), IL-6 (5.89±1.32) ng/L, TNF-α (7.34±2.32) ng/L and healthy group miR-146a (1.25±0.19), miR-145 (1.19±0.16), Th17/Treg (0.38±0.09), IL-6 (4.52±1.04) ng/L, TNF-α (5.39±1.07)ng/L. The levels of the above indexes in the common pneumonia group were higher than those in the healthy group, and the differences were statistically significant ( F=183.543, 175.938, 617.182, 226.657, 193.459, P<0.05). In the study group, IFN-γ (14.18±3.25) pg/ml was lower than that in the control group (19.52±5.13) pg/ml, but higher than that in the healthy group (9.77±2.40) pg/ml, and the difference was statistically significant ( F=335.432, P<0.05). Pearson correlation analysis showed that miR-146a, miR-145 and Th17/Treg were positively correlated with IL-6 and TNF-α ( P<0.05), but negatively correlated with IFN-γ ( P<0.05). ROC curve results showed that the area under the curve (AUC) of miR-146a, miR-145 and Th17/Treg in the diagnosis of RSV infectious pneumonia was 0.767, 0.762 and 0.790, respectively, while the combined detection of the three was 0.904. In conclusion, the levels of miR-146a, miR-145 and Th17/Treg are highly expressed in children with RSV infectious pneumonia, and are closely related to the inflammatory response of children. The combined detection of the three may have certain application value in the auxiliary diagnosis of RSV infectious pneumonia.

To investigate the levels and clinical significance of serum microRNA ( miR) -146a, miR-145, T-helpertype17 (Th17)/regulatory T cell (Treg) in children with respiratory syncytial virus (RSV) infectious pneumonia. The clinical data of 200 children with RSV infectious pneumonia admitted to Nantong Maternal and Child Health Hospital from June 2020 to June 2023 were retrospectively collected as the study group. At the same time, 200 children with mycoplasma pneumonia were selected as the common pneumonia group and 200 healthy children were selected as the healthy group. The levels of serum inflammatory factors [interleukin-6 (IL-6), interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α)] were detected by enzyme-linked immunosorbent assay. The expression levels of serum miR-146a and miR-145 were detected by RT-qPCR. The levels of Th17/Treg were detected by flow cytometry. The levels of miR-146a, miR-145, Th17/Treg and serum inflammatory factors were compared among the three groups. Pearson method was used to analyze the correlation between miR-146a, miR-145, Th17/Treg and serum inflammatory factors in children with RSV infectious pneumonia. The receiver operating characteristic (ROC) curve was drawn to analyze the diagnostic value of miR-146a, miR-145, Th17/Treg in children with respiratory syncytial virus infection pneumonia. The results showed that in the study group, miR-146a (2.01±0.58), miR-145 (1.81±0.46), Th17/Treg (1.09±0.31), IL-6 (7.82±2.11) ng/L and TNF-α (9.82±2.96) ng/L were higher than those in the common pneumonia group miR-146a (1.49±0.42), miR-145 (1.43±0.31), Th17/Treg (0.77±0.24), IL-6 (5.89±1.32) ng/L, TNF-α (7.34±2.32) ng/L and healthy group miR-146a (1.25±0.19), miR-145 (1.19±0.16), Th17/Treg (0.38±0.09), IL-6 (4.52±1.04) ng/L, TNF-α (5.39±1.07)ng/L. The levels of the above indexes in the common pneumonia group were higher than those in the healthy group, and the differences were statistically significant ( F=183.543, 175.938, 617.182, 226.657, 193.459, P<0.05). In the study group, IFN-γ (14.18±3.25) pg/ml was lower than that in the control group (19.52±5.13) pg/ml, but higher than that in the healthy group (9.77±2.40) pg/ml, and the difference was statistically significant ( F=335.432, P<0.05). Pearson correlation analysis showed that miR-146a, miR-145 and Th17/Treg were positively correlated with IL-6 and TNF-α ( P<0.05), but negatively correlated with IFN-γ ( P<0.05). ROC curve results showed that the area under the curve (AUC) of miR-146a, miR-145 and Th17/Treg in the diagnosis of RSV infectious pneumonia was 0.767, 0.762 and 0.790, respectively, while the combined detection of the three was 0.904. In conclusion, the levels of miR-146a, miR-145 and Th17/Treg are highly expressed in children with RSV infectious pneumonia, and are closely related to the inflammatory response of children. The combined detection of the three may have certain application value in the auxiliary diagnosis of RSV infectious pneumonia.

Objective:To systematically review thrombosis risk prediction models associated with peripherally inserted central venous catheter (PICC) in adults and provide a basis for the clinical application of these models and the development of subsequent models.Methods:Databases such as CNKI, Wanfang, VIP, PubMed, CINAHL, Web of Science, and Ovid were searched to collect studies on thrombosis risk prediction models related to adult PICC, covering all entries from the inception of the databases until December 31, 2022. Two researchers independently screened the literature, extracted data, and assessed the risk of bias.Results:Nineteen studies were included. D-dimer was the most common predictive factor; only five studies underwent external validation, and six studies evaluated model calibration. All included studies exhibited high risk of bias, primarily due to methodological deficiencies in model development and validation processes; the combined area under the receiver operating characteristic curve for nine models was 0.80 (95% Confidence Interval: 0.75-0.85) .Conclusions:Research on thrombosis risk prediction models related to adult PICC is still in its developmental stage. Most of the known models perform well with comprehensive and easily obtainable predictive factors, yet they exhibit methodological shortcomings. Future research should focus on improving the methodological quality and external validation during model development and validation processes.