PubMed Health⌕ Search

Biomedical subjects

Hua Xie

Publications and source records attributed to Hua Xie.

At least 19 recordsLinked to original sources

[Genetic and phenotypic analysis of three children with Neurodevelopmental disorders due to variants of DEAF1 gene].

OBJECTIVE: To explore the genetic characteristics and clinical phenotypes of three children with novel DEAF1 gene variants. METHODS: Three children who were referred to Capital Children's Medical Center Affiliated to Capital Medical University between January 2018 and December 2025 were selected as study subjects and underwent whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing, and their pathogenicity was evaluated based on the guidelines from American College of Medical Genetics and Genomics (ACMG). A systematic search of databases including PubMed and CNKI was conducted to compile previously reported cases of DEAF1 variants for clinical phenotype comparison. For the non-canonical splice site variant c.870+5G>C located in the intronic region, wild-type and mutant minigene reporter vectors were constructed and transfected into HeLa and 293T cells, respectively, and the splicing patterns were analyzed by RT-PCR and Sanger sequencing. This study was approved by the Medical Ethics Committee of Capital Institute of Pediatrics (Ethics No.: SHERLL 2020001). RESULTS: All three children were found to have carried de novo heterozygous variants of the DEAF1 gene, including two missense variants (c.764G>A, c.641T>C) in the important SAND domain and a splice site variant (c.870+5G>C) in a non-canonical splicing region. The c.764G>A and c.870+5G>C variants were unreported previously. All children had presented with intellectual developmental delay, and two were accompanied by autism spectrum disorder, and two had epilepsy and sleep disorders. In vitro minigene splicing assay showed that the c.870+5G>C variant can lead to abnormal splicing. CONCLUSIONS: This study reported three children with novel DEAF1 variants, two of which have not been previously described, thereby enriched the mutational spectrum of the DEAF1 gene. In vitro functional assay combined with the clinical manifestations of the patients confirmed the pathogenicity of the non-canonical splice site variant in the intronic region.

Humans↗

Different outcomes in urethral reconstruction using elastin and collagen patches and conduits in rabbits.

OBJECTIVES: To study the feasibility of urethral reconstruction with two urethroplasty techniques using an elastin and collagen heterograft in rabbits. MATERIALS AND METHODS: Fifty-two male rabbits were studied. Two types of injury, (1) a 1.5 x 0.6 cm2 semicircumferential defect; (2) a 1.5 cm segmental defect of the penile urethra, were created and repaired using size-matched elastin and collagen patches or tubed conduits. Urethral repair by primary closure for the type 1 injury and a tubularized autologous bladder mucosal graft for the type 2 injury served as controls. At 3 months, urethral diameter was measured with retrograde urethrography. The animals were then euthanized for histological examination. RESULTS: The postoperative complication rate was significantly higher in the urethral reconstructions using tubed collagen (83%) and elastin (50%) grafts compared to the patch onlay grafts (p = 0.001 for collagen and p = 0.01 for elastin) and tubularized ABM (10%, p = 0.003 and 0.05, respectively). At the type 2 injury site, a dense circumferential fibrosis developed after all repairs. Only minimal ventral fibrosis presented in the type 1 injury repair. The intensity of chronic inflammation and fibrosis was greatest when collagen was used for the urethral repair. In the elastin urethral repairs the urethral diameter decreased significantly for the tubed repair compared to the patch onlay (p = 0.02). CONCLUSION: Urethral injury repair using elastin and collagen biomaterials is feasible in the rabbit model. The results of onlay urethroplasty using the elastin and collagen patches are significantly superior to those using the elastin and collagen tubed conduits.

Animals↗

Inhibition of human immunodeficiency virus type 1 entry by a binding domain of Porphyromonas gingivalis gingipain.

Human immunodeficiency virus (HIV) transmission through saliva is extremely low. Several oral components, including secretory immunoglobulin A and secretory leukocyte protease inhibitor, are known as potential inhibitory agents of HIV oral transmission. Here we examined anti-HIV activity of oral bacterial components. We showed that recombinant protein HGP44 derived from Porphyromonas gingivalis, one of the primary infectious agents of periodontitis, was capable of inhibiting HIV type 1 (HIV-1) replication. HGP44 bound specifically to HIV-1 gp120 and blocked HIV-1 envelope-mediated membrane fusion. These findings suggest that HGP44 of P. gingivalis can inhibit HIV-1 infection by blocking HIV-1 entry.

Adhesins, Bacterial↗

Porphyromonas gingivalis minor fimbriae are required for cell-cell interactions.

Two distinctive types of fimbriae have been identified in Porphyromonas gingivalis. In this report, we demonstrate that minor fimbriae are involved in P. gingivalis autoaggregation and colonization. A mutant with a deficiency in minor fimbriae can bind to a saliva-coated surface but does not form microcolonies as the wild-type strain does.

Biofilms↗

Sonographic elasticity imaging of acute and chronic deep venous thrombosis in humans.

OBJECTIVE: The purpose of this study was to assess the ability of sonographic elasticity imaging to distinguish acute from chronic deep venous thrombosis (DVT). METHODS: Fifty-four patients, 26 with acute DVT and 28 with chronic DVT, were studied, and we analyzed the data in 46 patients, 23 with acute (mean age, 5.7 days) and 23 with chronic (>8 months) DVT. Scanning was performed with a 5-MHz linear array transducer during continuous freehand external deformation of each thrombus using the ultrasound scan head. The strains in the thrombi were normalized to the average strain between the skin surface and the back wall of the vein. Relative thrombus echogenicity was measured by comparing the echogenicity of the thrombus with that of the adjacent arterial lumen. Statistical analyses were performed with the Mann-Whitney U test and receiver operating characteristic analysis. RESULTS: The median normalized strain magnitude for the acute cases was 2.75, with an interquartile range of 2.4 to 3.71, whereas the median normalized strain magnitude for the chronic cases was 0.94, with interquartile range of 0.48 to 1.36. The difference was highly significant (P < 10(-7)). The area under the receiver operating characteristic curve (A(z)) was 0.97 +/- 0.02 (SE). The echogenicity difference between the populations was highly significant (P < 10(-5)), with A(z) of 0.92 +/- 0.04. The difference between the A(z) values was not significant (P > .05). CONCLUSIONS: In this population, sonographic elasticity imaging performs at least as well as thrombus echogenicity. Thrombus aging using elasticity imaging would be particularly helpful in evaluating symptoms in patients with post-thrombotic syndrome.

Acute Disease↗

SSR allelic variation in almond (Prunus dulcis Mill.).

Sixteen SSR markers including eight EST-SSR and eight genomic SSRs were used for genetic diversity analysis of 23 Chinese and 15 international almond cultivars. EST- and genomic SSR markers previously reported in species of Prunus, mainly peach, proved to be useful for almond genetic analysis. DNA sequences of 117 alleles of six of the 16 SSR loci were analysed to reveal sequence variation among the 38 almond accessions. For the four SSR loci with AG/CT repeats, no insertions or deletions were observed in the flanking regions of the 98 alleles sequenced. Allelic size variation of these loci resulted exclusively from differences in the structures of repeat motifs, which involved interruptions or occurrences of new motif repeats in addition to varying number of AG/CT repeats. Some alleles had a high number of uninterrupted repeat motifs, indicating that SSR mutational patterns differ among alleles at a given SSR locus within the almond species. Allelic homoplasy was observed in the SSR loci because of base substitutions, interruptions or compound repeat motifs. Substitutions in the repeat regions were found at two SSR loci, suggesting that point mutations operate on SSRs and hinder the further SSR expansion by introducing repeat interruptions to stabilize SSR loci. Furthermore, it was shown that some potential point mutations in the flanking regions are linked with new SSR repeat motif variation in almond and peach.

Alleles↗

Potent histamine-releasing activity of atrahagin, a novel snake venom metalloproteinase.

Poisonous snakebite wound is a popular disease worldwide. However, the pathogenesis remains unclear. In the present study, a novel metalloproteinase atrahagin in Chinese cobra (Naja atra) snake venom was purified, using heparin-sepharose followed by Superdex 75 gel filtration chromatography. Apart from its alpha-fibrinogenase activity, atrahagin potently activated human colon, lung and tonsil mast cells with the net histamine release being 25.9+/-4.4, 17.0+/-1.9, 13.2+/-3.6%, respectively. Time course studies revealed that the peak histamine release induced by atrahagin occurred at 12, 12 and 8 min following incubation of the enzyme with colon, lung and tonsil mast cells, respectively. The response of mast cells to atrahagin was abolished by preincubation of the cells with metabolic inhibitors or pertussis toxin, and by removal of Ca2+ and Mg2+ from the challenge buffer. In conclusion, activation of human mast cells by atrahagin indicated that the enzyme might contribute to the pathogenesis of snakebite wound.

Animals↗

Roles of histamine and its receptors in allergic and inflammatory bowel diseases.

Mast cell has a long history of being recognized as an important mediator-secreting cell in allergic diseases, and has been discovered to be involved in IBD in last two decades. Histamine is a major mediator in allergic diseases, and has multiple effects that are mediated by specific surface receptors on target cells. Four types of histamine receptors have now been recognized pharmacologically and the first three are located in the gut. The ability of histamine receptor antagonists to inhibit mast cell degranulation suggests that they might be developed as a group of mast cell stabilizers. Recently, a series of experiments with dispersed colon mast cells suggested that there should be at least two pathways in man for mast cells to amplify their own activation-degranulation signals in an autocrine or paracrine manner. In a word, histamine is an important mediator in allergic diseases and IBD, its antagonists may be developed as a group of mast cell stabilizers to treat these diseases.

Animals↗

[Amniotic fluid: a novel source for tissue engineering].

OBJECTIVE: To investigate the possibility of using amniotic fluid cells as seed cells for tissue engineering. METHODS: Amniotic fluid was obtained by ultrasound-guided amniocentesis performed on pregnant women with a gestational age ranging from 16(th) approximately 23(rd) weeks. The cells isolated from the amniotic fluid were cultured in F10 culture fluid with 10% FBS. Immunocytochemistry was used to examine the standard intermediate filaments. After 3 passages of subculture, the cells were harvested and seeded onto PGA polymer scaffold. The cellular morphology, structure and adhesion with scaffold were evaluated by contrast microscope and scanning electronic microscope. RESULTS: The amniocytes expanded rapidly in culture media. Immunocytochemistry revealed positive signals for vimentin, smooth muscle action (SMA), and pan cytokeratin, and negative signals for desmin. Amniocytes-polymer complex analysis showed confluent cells firmly attached to the scaffold, with no evidence of cell death. CONCLUSION: The expansion potential of amniotic fluid cells is active. They express the characteristics of mesenchymal cells. The cells on PGA polymer scaffold can grow rapidly and maintain its morphological property. So the amniotic fluid may be a practical cell source for tissue engineering.

Actins↗

Soil As contamination and its risk assessment in areas near the industrial districts of Chenzhou City, Southern China.

In order to assess soil As contamination and potential risk for human, soil, paddy rice, vegetable and human hair samples from the areas near the industrial districts in Chenzhou, southern China were sampled and analyzed. The results showed that the anthropogenic industrial activities have caused in local agricultural soils to be contaminated with As in a range of 11.0-1217 mg/kg. The GIS-based map shows that soil contamination with As occurred on a large scale, which probably accounted for up to 30% of the total area investigated. Soil As concentration abruptly decreased with an increase in the distance from the polluting source. High As concentrations were found in the rice grain that ranged from 0.5 to 7.5 mg/kg, most of which exceed the maximal permissible limit of 1.0 mg/kg dry matter. Arsenic accumulated in significantly different levels between leafy vegetables and non-leafy vegetables. Non-leafy vegetables should be recommended in As-contaminated soils, as their edible parts were found in relatively low As level. Arsenic concentrations in 95% of the total human hair samples in the contaminated districts were above the critical value, 1.0 mg/kg, set by the World Health Organization. Arsenic could be enriched in human hair to very high levels without being affected by As containing water. The results revealed that the soils and plants grown on them are major contributors to elevate hair As in the industrial population. Therefore, the potential impact on human health of ingestion/inhalation of soil As around the industrial districts seems to be rather serious. Hence proper treatments for As contaminated soils are urgently needed to reduce the contamination.

Arsenic↗

Correspondence of ultrasound elasticity imaging to direct mechanical measurement in aging DVT in rats.

Previous ultrasound elasticity imaging experiments supported a generally accepted concept that the hardness of deep venous thrombi increases with thrombus aging. Results also showed that this noninvasive imaging technique can accurately predict thrombus age through strain estimates, in a well-controlled animal study. In the present study, as an alternative means to characterize elastic properties of thrombi, we used a direct mechanical measurement system to estimate Young's modulus of ex vivo thrombi. Unlike conventional indentation tests, the device uses a specific compression geometry for cylindrical tissue specimens. We also proposed an approximation scheme to retrieve Young's modulus from force-displacement measurements made using the device. Finite element simulations and calibrations on tissue-mimicking phantoms validated the system. Then, using two groups of rats with surgically-induced thrombi, we further investigated the correlation between Young's modulus measured ex vivo and elasticity images reconstructed in vivo. This comparison was accomplished by converting the intrathrombus strains measured in the in vivo studies into Young's modulus estimates using a model-based approach. Good agreement between time-dependent Young's modulus estimates observed in vivo and direct measurements of Young's modulus using the mechanical device helps to confirm the ability of elasticity imaging to age deep venous thrombi for efficient treatment.

Aging↗

Activation of human tonsil and skin mast cells by agonists of proteinase activated receptor-2.

AIM: To investigate the effects of the agonists of proteinase activated receptor (PAR)-2, and histamine on degranulation of human mast cells. METHODS: Human mast cells were enzymatically dispersed from tonsil and skin tissues. The dispersed cells were then cultured with various stimuli, and tryptase and histamine levels in cell supernatants collected from challenge tubes were measured. RESULTS: PAR-2 agonist peptide SLIGKV provoked a dose-dependent release of histamine from skin mast cells. It also induced tryptase release from tonsil mast cells. tc-LIGRLO appeared less potent than SLIGKV in induction of release of histamine and tryptase. Trypsin was able to induce a bell shape increase in tryptase release from tonsil mast cells. It was also able to induce a dose-dependent release of histamine from both tonsil and skin mast cells. The actions of trypsin on mast cells were inhibited by soy bean trypsin inhibitor (SBTI) or alpha1-antitrypsin (alpha1-AT). Time course study revealed that both stimulated tryptase or histamine release initiated within 10 s and reached their peak release between 4 and 6 min. Pretreatment of cells with metabolic inhibitors or pertussis toxin reduced the ability of mast cells to release tryptase or histamine. CONCLUSION: It was demonstrated that the in vitro tryptase release properties of human tonsil and skin mast cells suggested a novel type of mast cell heterogeneity. The activation of mast cells by PAR-2 agonists indicated a self-amplification mechanism of mast cell degranulation.

Antibodies, Anti-Idiotypic↗

[Preliminary research on bacterial diversity of Parece Vela Basin, Pacific Ocean by culture-independent method].

The environmental DNA was directly extracted from the sediment in Parece Vela Basin, Pacific Ocean, at a depth of 5010 m. Bacterial 16S rRNA gene library of 32 clones was generated using bacterial universal primers and 16S rDNA sequences were analyzed phylogenetically. 17 phylotypes were obtained. The library was dominated by gamma-Proteobacteria, alpha-Proteobacteria and marine uncultured bacteria. Sixty-two percent of the cloned sequences was highly related to the known bacteria in the genus Halomonas, Alcanivorax, Pseudomonas, Acinetobacter, Pseudoalteromonas (> 96% sequence similarity), while some of the cloned sequences showed less affiliation with known taxa (< 94% sequence similarity) and may represent novel taxa.

Base Sequence↗

[Correlations between plasma levels of IL-18, IL-4, IFN-gamma, IgE and ECP in the patients with seasonal allergic rhinitis and their clinical implications].

OBJECTIVE: To investigate the correlations between plasma levels of IL-18, IL-4, IFN-gamma, IgE and eosinophil cationic protein (ECP) in the patients with seasonal allergic rhinitis (SAR), and their clinical implications. METHOD: A total of 89 patients with SAR were divided into two groups, acute group and remission group. Thirty healthy controls were recruited into the study. The levels of IL-18, IL-4, IFN-gamma were detected with sandwich ELISA procedures and sIgE (specific IgE), tIgE (total IgE) and ECP levels were measured with fluorescent enzyme immunoassay using UniCAP system in each group. RESULT: (1) At acute stage of patients with SAR, the plasma levels of tIgE and ECP were significantly higher than that of the patients at remission stage and healthy controls (P < 0.01, respectively). There was not statistical difference between acute and remission stage (P > 0.05) in the levels of sIgE, but it was significantly higher than that of healthy controls (P < 0.01). (2) At acute stage of patients with SAR, plasma levels of IL-18 and IL-4 were significantly higher than those of the patients at remission stage and healthy controls (P < 0.01, respectively), the levels of IL-18 at remission stage was still higher than that of healthy controls (P < 0.01). (3) There were positive correlations between the plasma levels of IL-18 and IL-4, tIgE, ECP, respectively in acute group, whereas there were negative correlations between the IL-4, tIgE and IFN-gamma, respectively. There were no correlations between levels of IL-18 and IFN-gamma, sIgE. CONCLUSION: The plasma levels of IL-18, tIgE, IL-4 and ECP were significantly higher in the patients with SAR, and there were positive correlations between them respectively. It was suggested that IL-18 is likely to be involved in the pathogenesis of allergic inflammation.

Adult↗

[The study on the relationship between the tumor-like proliferation of synoviocytes and the expression of c-myc and ODC genes in adjuvant arthritis rats].

AIM: To investigate the mechanism of the tumor-like proliferation of synoviocytes in adjuvant arthritis (AA) rats. METHODS: Wistar rats were randomly divided into 2 groups, AA group and control group. Freund's complete adjuvant was injected into AA group rats to induce adjuvant arthritis. The knee synovial tissues of the rats were taken and synoviocytes were separated and cultured in vitro. The proliferation of cultured synoviocytes was measured by MTT colorimetry. Meanwhile, the mRNAs of C-myc and ODC genes in synovial tissues of the rats were detected by semi-quantitative RT-PCR. RESULTS: (1)Synoviocytes of AA rats proliferated more markedly than those of control rats (P<0.01), and exhibited a tumor-like proliferation. (2)The mRNAs of C-myc and ODC genes were obviously higher in synovial tissues of AA rats than those of control rats. CONCLUSION: The tumor-like proliferation of synoviocytes from AA rat joint might be related to the increased mRNAs of C-myc and ODC genes.

Animals↗

Inhibition of tryptase release from human colon mast cells by histamine receptor antagonists.

The main objective of this study was to investigate the ability of histamine receptor antagonists to modulate tryptase release from human colon mast cells induced by histamine. Enzymatically dispersed cells from human colon were challenged with histamine in the absence or presence of the histamine receptor antagonists, and the tryptase release was determined. It was found that histamine induced tryptase release from colon mast cells was inhibited by up to approximately 61.5% and 24% by the H1 histamine receptor antagonist terfenadine and the H2 histamine receptor antagonist cimetidine, respectively, when histamine and its antagonists were added to cells at the same time. The H3 histamine receptor antagonist clobenpropit had no effect on histamine induced tryptase release from colon mast cells at all concentrations tested. Preincubation of terfenadine, cimetidine or clobenpropit with cells for 20 minutes before challenging with histamine did not enhance the ability of these antihistamines to inhibit histamine induced tryptase release. Apart from terfenadine at 100 microg/ml, the antagonists themselves did not stimulate tryptase release from colon mast cells following both 15 minutes and 35 minutes incubation periods. It was concluded that H1 and H2 histamine receptor antagonists were able to inhibit histamine induced tryptase release from colon mast cells. This not only added some new data to our hypothesis of self-amplification mechanisms of mast cell degranulation, but also suggested that combining these two types of antihistamine drugs could be useful for the treatment of inflammatory bowel disease (IBD).

Calcimycin↗

Concentrated albumin as a biological glue for hemorrhage control on hepatic resection with argon beam coagulation.

Topically applied concentrated albumin with argon beam coagulation (ABCA) has been shown to be more effective at achieving hemostasis than using argon beam coagulation alone (ABC) in a liver injury model. This study investigated the host response to the concentrated albumin after argon beam coagulation. Complete hemostasis was achieved using ABCA (N = 10) or ABC (N = 10) on a nonanatomic liver resection in a heparinized porcine model. The repairs were evaluated grossly and microscopically at postoperative periods of 30 and 90 days. We found no evidence of biliary leakage, rebleeding, or intraabdominal infection. Blood analysis indicated liver chemistry indices were within normal range after ABC and ABCA treatments. The histopathology showed that the postoperative healing response was similar in both groups: a moderate chronic inflammatory response as part of an on-going normal healing process. All repairs were encapsulated by fibrous tissue. There was no difference in the postsurgical adhesion scores for the ABCA (mean 3.4) and ABC (mean 3.8). It was concluded that use of the concentrated albumin as biological glue in conjunction with argon beam coagulation is a safe and efficient procedure for controlling hepatic hemorrhage in surgery. Further studies are warranted to investigate the clinical significance of this technique.

Adhesives↗

Induction of tryptase and histamine release from human colon mast cells by IgE dependent or independent mechanisms.

AIM: To investigate the tryptase and histamine release ability of human colon mast cells upon IgE dependent or independent activation and the potential mechanisms. METHODS: Enzymatically dispersed cells from human colons were challenged with anti-IgE or calcium ionophore A23187, and the cell supernatants after challenge were collected. Both concentration dependent and time course studies with anti-IgE or calcium ionophore A23187 were performed. Tryptase release was determined with a sandwich ELISA procedure and histamine release was measured using a glass fibre-based fluorometric assay. RESULTS: Both anti-IgE and calcium ionophore were able to induce dose dependent release of histamine from colon mast cells with up to approximately 60% and 25% net histamine release being achieved with 1 microg/mL calcium ionophore and 10 microg/mL anti-IgE, respectively. Dose dependent release of tryptase was also observed with up to approximately 19 ng/mL and 21 ng/mL release of tryptase being achieved with 10 microg/mL anti-IgE and 1 microg/mL calcium ionophore, respectively. Time course study revealed that both tryptase and histamine release from colon mast cells stimulated by anti-IgE initiated within 10 sec and reached their maximum release at 6 min following challenge. Pretreatment of cells with metabolic inhibitors abolished the actions of anti-IgE as well as calcium ionophore. Tryptase and histamine release, particularly that induced by calcium ionophore was inhibited by pretreatment of cells with pertussis toxin. CONCLUSION: Both anti-IgE and calcium ionophore are able to induce significant release of tryptase and histamine from colon mast cells, indicating that this cell type is likely to contribute to the pathogenesis of colitis and other mast cell associated intestinal diseases.

Colectomy↗