Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia / 中华耳鼻咽喉头颈外科杂志

Objective: To explore the diagnostic significance of the combination of clinical and genetic detection of hereditary hemorrhagic telangiectasia (HHT) by analyzing the clinical and genetic diagnosis of a family with HHT. Methods: Medical history data of the probands and their family members were collected, and the sequence analyses of coding regions of ENG, ACVRL1, SMAD4 and GDF2 genes were performed by PCR-sequencing method, and a comprehensive diagnosis was made based on the clinical features and gene detection results. After the pathogenic gene variation was identified, 11 members of 3 generations of the family were tested for pathogenic gene mutation. Results: There was an ACVRL1 c.715_716delAG mutation in the proband and 9 other family members, which caused p.S239C. Based on the clinical and genetic findings, the 7 suspected were diagnosed and 2 asymptomatic patients were found to carry the mutation site. Conclusion: The combination of clinical features and gene detection can determine the etiology and classification of HHT, which is convenient for the early diagnosis and prevention of the disease.

Therapeutic effect and mechanism of hydrogel-encapsulated human umbilical cord mesenchymal stem cells on traumatic brain injury in rats / 解剖学报

Objective To investigate the therapeutic effect of hydrogel-encapsulated human umbilical cord mesenchymal stem cells (hUC-MSCs) on traumatic brain injury in rats and its related mechanism. Methods SD rat models of traumatic brain injury were constructed, which were divided into control group, chitosan group, stem cell group and combined treatment group. Results During the treatment, there was no significant difference in mNSS score between the control group and the chitosan group (P>0.05). On the 15th, 22nd, 29th and 36th day, the mNSS score of the combined treatment group decreased most significantly than that of the control group, followed by the stem cell group (P0.05), and the expression of related proteins in the stem cell group and the combined treatment group increased significantly. The expression level of the related protein in the combined treatment group was the highest, followed by stem cell group, the lowest in the control group and chitosan group (P<0.05). Conclusion Compared with stem cell transplantation alone, hydrogel-encapsulated hUC-MSCs transplantation can improve the motor and learning and memory abilities of rats with traumatic brain injury more effectively.

Fleas notified on Microtus fuscus foci in Sichuan province / 中华流行病学杂志

Objective To analyzed the variant information on the indices regarding fleas from natural foci of Microtus plague in Sichuan epidemic area during 2000 to 2008.Methods Statistical and analytical methods were used on the surveillance data regarding Microtus fuscus plague.Results There were 19 flea species identified and the share of Callopsylla sparsilis was 62.79 percent while the share of Amphipsylla tuta tuta was 30.90 percent on Microtus fuscus plague.The infection rate of fleas and the flea index were the highest in October and the lowest in December and March.Species as Callopsylla sparsilis,Amphipsylla tuta tuta and Rhadinopsylla dahurica vicina could naturally infect the Yersinia pestis.Conclusion Microtus fuscus plague could become epidemic when animals and flea species were infected.We should emphasis on plague monitoring program so as to prevent the occurrence of the disease.

Dietary iodine intake in the Chinese population / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To evaluate dietary iodine intake and its potential risks among the Chinese population.</p><p><b>METHODS</b>Individual dietary iodine intake was calculated using food consumption data multiplying by iodine concentration in foods, table salt and drinking water, followed by summing, and then compared with the corresponding age-specific reference values, including Upper Intake Level (UL) and Recommended Nutrient Intake (RNI).</p><p><b>RESULTS</b>In areas with water iodine concentration (WI) lower than 150 μg/L, 80.8% of residents had iodine intake between the RNI and UL, 5.8% higher than UL, and the remaining (13.4%) lower than RNI if iodized salt was consumed. However, in the uniodized salt consumption scenario, only 1.0% of residents between RNI and UL, 1.4% higher than UL, and a large part of residents (97.6%) lower than RNI. In areas with WI higher than 150 μg/L, all residents had iodine intake between RNI and UL if iodized salt was consumed, except 10.5% and 24.9% of residents higher than UL in areas with WI at 150-300 μg/L and higher than 300 μg/L respectively. However, in the uniodized salt consumption scenario, only 1.5% and 1.7% of residents had higher iodine intake than UL respectively.</p><p><b>CONCLUSION</b>The findings suggested that in general, the dietary iodine intake by the Chinese population was appropriate and safe at the present stage. People in areas with WI lower than 150 μg/L were more likely to have iodine deficiency. While people in areas with WI higher than 150 μg/L were more likely to have excessive iodine intake if iodized salt was consumed.</p>

Effect of hyperbaric oxygen preconditioning on spleen lymphocytes and cell adhesion molecules after skin transplantation in mice / 中国实验血液学杂志

The aim of this study was to explore the effect of hyperbaric oxygen (HBO) preconditioning on the rejection of skin allograft in mice and its molecular mechanism. BALB/c donor mice and C57BL/6 recipients received hyperbaric oxygen preconditioning once a day for 7 days. After skin transplantation, the recipients were treated with cyclosporine A (CsA) intraperitoneally. Immunofluorescent staining technique and flow cytometry were used to observe the influence HBO on percentage of spleen lymphocytes CD3+, CD4+, CD8+ and cell adhesion molecule LFA-1 (CD11a/CD18). The results showed that as compared with control, the numbers of CD3+, CD4+, CD8+, CD4+CD11a+, CD4+ CD18+, CD8+CD11a+, CD8+CD18+ lymphocytes of spleen decreased in HBO preconditioning groups and CsA group, and decreased markedly in HBO preconditioning combined with CsA group (p<0.05); the general state of recipient mice in HBO preconditioning combined with CsA group was better than that of recipient mice received HBO preconditioning or CsA only. It is concluded that the method of HBO preconditioning combined with traditional immunosuppressive agent CsA has remarkable advantage in inhibiting the rejection of skin graft. Its molecular protective mechanism is correlated with the expression of adhesive molecules on T cell subsets.

Monitoring the Microtus fuscus plague epidemic in Sichuan province during 2000-2008 / 中华流行病学杂志

Objective To analyze the epidemic tendency of Microtus fascus plague during 2000-2008 in Sichuan province. Methods To investigate the plague each year according to "overall Plan of the Plague in the Whole Nation" and "Surveillance Program of Sichuan Province Plague". Results There were plague epidemic from 2000 to 2008, with the average density as 312.41/ha. 42.57% of the Microtus fuscus were infected by body Fleas. The Fleas Index was 0.88 and the Index for nest Fleas of Microtas fuscus was 55.89. Six kinds of animals were infected by not only the Microtus fuscus but also herd-dog, sand fox, Tibetan sheep, domestic cats and Cricetulus longicaulatus as well. The positive rate of live Microtus fuscus was 0.32% but 22.99% in the dead Microtus fuscus. The overall positive rate on serological test was 6.70%. There were 4 Sections, 11 species and 19 kinds Fleas identified and carrying 3 kinds of fleas, Callopsylla sparsilis, Amphipsylla tntua tutua and Rhadinopsylla dahurica vicina, with the overall infection rate as 0.054%. Conclusion Plague among Microtus fuscus showed a continuous epidemic in Sichuan province during 2000-2008.

Screening of effective shRNA targeting TNF-alpha and constructing of recombinant plasmid / 中国实验血液学杂志

The objective of this study was to screen out the effective shRNA which can inhibit the gene expression of tumour necrosis factor-alpha (TNF-alpha), to construct the recombinant plasmid and to determine its sequence so as to provide the new approach for searching gene therapy of TNF-alpha related diseases. The primary macrophages were added into 15% DMEM, then cells were adjusted as 2 x 10(7) cells/L and were inoculated in 6-well plate with 3 ml/well, and were cultured at 37 degrees C in a fully humidified atmosphere with 5% CO(2). Cells were stimulated with lipopolysaccharide (LPS) and the concentration of TNF-alpha in the supernatant at different time points was determined by enzyme-linked immunosorbent assay (ELISA). The 5 synthesized DNA sequences which can be transcripted into shRNA were transfected into cells with lipofectamine 2000, then the cells were stimulated with LPS for 24 hours. The concentration of TNF-alpha in the supernatant and the expression of TNF-alpha mRNA were determined by ELISA and reverse transcription polymerase chain reaction (RT-PCR) respectively. The most effective shRNA was inserted into plasmid, and the recombinant plasmid was identified by sequence analysis. The results showed that the concentration of TNF-alpha in the supernatant reached peak after the stimulation with LPS for 24 hours. In the RNA interference group, the shRNA 1 was the most effective one, which could inhibit the expression of TNF-alpha by 59.46% and the expression of TNF-alpha mRNA by 61.2%. The recombinant plasmid was cloned and the sequence of interest was obtained. In conclusion, the most effective shRNA targeting TNF-alpha was successfully screened out and the recombinant plasmid was constructed. The recombinant plasmid may be helpful to search new gene therapy for TNF-alpha related disease.

Effect of hyperbaric oxygen on acute graft-versus-host disease after allogeneic bone marrow transplantation / 中国实验血液学杂志

The objective of this study was to investigate the function and mechanism of hyperbaric oxygen (HBO) in antagonizing acute graft-versus-host disease (aGVHD) and improving the rate of survival. The lethally irradiated C57BL/6 recipients were injected with bone marrow and lymphocyte of spleen from BALB/c donors and were treated with HBO, cyclosporine A (CsA) and methotrexate (MTX). T lymphocytes and subsets, adhesion molecules and cytokines were detected by flow cytometry, ELISA and RT-PCR respectively. The results showed that the survival rate in HBO group was much higher than that in allogenetic bone marrow transplantation (allo-BMT) group and CsA + MTX group; the numbers of CD3(+), CD4(+), CD8(+), CD4(+)CD11a(+), CD4(+)CD18(+), CD8(+)CD11a(+), CD8(+)CD18(+) lymphocytes in spleen were decreased markedly by HBO and CsA + MTX (p < 0.05); the levels of IL-2 and TNFalpha mRNA and their serum concentrations in HBO group were much lower than those in allo-BMT group but were higher than those in CsA + MTX group; the levels of IL-4 and IL-10 mRNA in HBO group were much higher than those in allo-BMT group and CsA + MTX group. It is concluded that HBO has more remarkable advantage in improving the rate of survival than CsA + MTX, its mechanism of anti-aGVHD is tightly correlated with the transform of T cell and its subsets and the expression of adhesion molecules and cytokines.