Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of immunoglobulin μ -binding protein 2 (IGHMBP2) gene in a two-year-old patient with spinal muscular atrophy with respiratory distress type 1 (SMARD1).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood sample from the patient and her parents, as well as cord blood sample from the fetus. Potential mutations of the coding region of the IGHMBP2 gene was detected with PCR and Sanger sequencing.</p><p><b>RESULTS</b>A heterozygous missense mutation c.1060G>A and a frameshift mutation c.2356delG was detected in the patient. The mutations were respectively inherited from her father and mother. Neither mutation was found in DNA derived from the cord blood sample.</p><p><b>CONCLUSION</b>The missense mutation c.1060G>A and frameshift mutation c.2356delG were probably causative for the disease. Analysis of the IGHMBP2 gene has provided an important clue for the etiology and prenatal diagnosis of SMARD1.</p>

Expression of MicroRNA-26a and Its Target Gene CDK6 in Extra-nodal NK/T-Cell Lymphoma / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To explore the expression level of microRNA-26a and its target gene CDK6 in extranodal NK/T-cell lymphoma (ENKTCL) and their possible role in genesis and development of ENKTCL.</p><p><b>METHODS</b>Real time fluorescent quantitative PCR was used to detect the expression level of miR-26a in tissue of 15 patients with ENKTCL and 10 samples of normal NK cells. Maxvision immunohistochemistry technique was used to detect the expression level of CDK6 and miR-26a in tissue of 20 ENKTCL cases, 10 cases of proliferative lymphadenitis and 10 samples of normal lymph node, respectively. The possible role of miR-26a and its target gene CDK6 in genesis and development of ENKTCL were analyzed according to the clinical features of ENKTCL patients.</p><p><b>RESULTS</b>The expression of miR-26a was significantly lower in ENKTCL than that in normal NK cells. The expression of CDK6 was significantly higher in ENKTCL group than that in group proliferative lymphadenitis and normal lymph node. Correlation analysis showed that there was significant negative correlation between miR-26a expression and CDK6 expression (r = -0.54, P = 0.04). Meanwhile, there were no correlation of miR-26a expression with age, sex, Ann Arbor stage, LDH level, B symptoms and IPI. Although, there were no correlation of CDK6 expression with age, sex, LDH level and B symptoms, there were positive correlation of CDK6 expression with Ann Arbor stage and IPI.</p><p><b>CONCLUSION</b>that abnormal expression of miR-26a may participate in genesis and development of ENKTCL through regulating the expression of its target gene CDK6.</p>

A new generation of lipoprotein(a)in clinical application and performance evaluation method for the detection of particles per unit / 国际检验医学杂志

Objective To evaluate the clinical significance of the International Federation of Clinical Chemistry and Laboratory Medicine international(IFCC) reference reagent(SRM2B) standardized ,particles unit method in detecting the lipoprotein(a)[Lp (a)] .Methods Precision ,linearity ,clinical reportable range ,reference interval index of total number of particles in the kit express-ing Lp(a) by nmol/L were evaluated ,and compared with the kit expressed Lp(a) by mg/L .At the same time serum alanine amin-otransferase(ALT) ,aspartate aminotransferase(AST) ,total bilirubin(TBIL) ,UREA ,creatinine(CREA) ,triglycerides(TG) ,total cholesterol(CHOL) ,high-density lipoprotein cholesterol(HDL-C) ,low density lipoprotein cholesterol(LDL-C) of all the subjects were detected and the correlations of them between LP(a) were analyzed .Results The method with-run coefficient of variation (CV)<1 .5% ,between-run CV< 2 .0 .Within the scope of 0 .6 -236 .0 nmol/L the linear was good(r2 = 0 .996 2) .Reportable range:7-720 nmol/L ,normal reference range <75 nmol/L .With a total mass(mg/L) said good correlation between content Lp(a) kit .The correlation of Lp (a) and ALT ,AST ,TBIL ,UREA ,CERA ,TG ,CHOL ,HDL-C ,LDL-C of were -0 .120 ,-0 .091 ,-0 .372 ,-0 .096 ,-0 .087 ,0 .056 ,0 .263 ,0 .226 ,0 .159 .Conclusion This methods shows good performance ,and without interfer-ence from serum ALT ,AST ,UREA ,CERA ,TG ,HDL-C ,LDL-C levels ,but affected by the levels of serum TBIL and CHOL .It could be traced to the IFCC international reference methods and reference materials(SRM2B) ,which isn′t influenced by Lp(a) poly-morphisms ,detects Lp(a) particle number really ,expressed Lp(a) protein with nmol/L accurately ,helps evaluating clinical cardio-vascular disease risk ,and increases the comparability among different clinical research data .

Angle of titanium clip next turbinate resection without filling in the clinical observation / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To observe the self-developed horn type of titanium clamp used for inferior turbinate resection from filling effect.@*METHOD@#Choose the cases of inferior turbinate resection of 152 cases randomly selected 92 cases (group) in 2-4 angle type titanium clip head-tail closed wound middle turbinate, and therefore more than nasal passages in the surgical wound, just as in the nasal passages above micro tamponade, bare breathing zone, keep the ventilation, 1- 3 days to take out the angle titanium clamp; 60 cases (control group) with vaseline oil gauze or postoperative Merocel hemostatic sponge tamponade nasal bleeding. Observation of 1-3 days after nasal ventilation, headache, nasal bleeding, dry mouth, tolerance is painful, aural fullness tinnitus, a total of 7 indicators of sleep.@*RESULT@#The team outside the there was no difference in blood loss and the control group, the rest of the indicators is better than the control group.@*CONCLUSION@#The angle of titanium clamp used in inferior turbinate resection from stuffing, patients get better comfort, avoid drawn yarn of pain, improve the quality of perioperative patients with life.

Effects of eEF1A1 re-expression on proliferation and apoptosis of Jurkat cells with knocked down eEF1A1 gene and its mechanisms / 中国实验血液学杂志

This study was aimed to explore the effects of expressing eukaryotic elongation factor 1A1 (eEF1A1) on proliferation and apoptosis in human acute T lymphocytic leukemia (T-ALL) cell line Jurkat with knocked down eEF1A1 gene and its mechanisms. eEF1A1-expressing lentivirus (LV) was constructed and used to transfect the Jurkat cells with knocked down eEF1A1 gene. Then, the expressions of eEF1A1 mRNA and protein were detected by real time PCR(RT-PCR) and Western blot respectively.Cell proliferation, apoptosis and cycle were detected by MTT method, Annexin V-APC labeling and DNA ploidy analysis respectively. The related protein expressions of phosphatidylinositol-3-kinase (PI3K)/serine/threonine kinase (Akt) signaling pathway were detected by Western blot. The results indicated that eEF1A1 mRNA and protein expressions of Jurkat cells with knocked down eEF1A1 gene were re-established by constructing eEF1A1-expression LV. Compared with negative control group (transfected with negative control LV and eEF1A1-shRNA LV), cell proliferation in eEF1A1 expression group was significantly enhanced, cell apoptosis was remarkably inhibited, percentage of cells in G0/G1 phase was significantly reduced alone with increased percentage of cells in S and G2/M phase, and the expression levels of p-Akt (Ser 473), nuclear factor kappa B (NF-κB), p-NF-κB (Ser 468), mammalian target of rapamycin (mTOR) and p-mTOR (Ser 2448) protein significantly increased. It is concluded that eEF1A1 may have a carcinogenic effect in T-ALL cells. eEF1A1 expression has noticeable effects on the proliferation enhancement and apoptosis inhibition of Jurkat cells, which may be mediated by the up-regulation of PI3K/Akt/NF-κB and PI3K/Akt/ mTOR signaling pathway.

Surface-enhanced Raman spectroscopic analysis of uric acid / 生物医学工程学杂志

Based on Ag nanoparticles as the surface-enhanced Raman spectroscopy (SERS)-active nanostructure, the SERS of uric acid was presented in the paper. The absorption spectroscopies of uric acid and the mixture of silver colloids and uric acid were measured. The possible enhancing mechanism of the uric acid on silver colloid was speculated. The characteristic SERS bands of uric acid were tentatively assigned. The influence of absorption time and different ion on the SERS of uric acid were also discussed. The SERS spectral intensity changes linearly with the uric acid concentration, which indicated that the SERS might provide a new kind of direct and fast detecting method for the detection of uric acid. The detection limit of uric acid in silver sol is found to be 1 mg/L.

Effect of knocking down eEF1A1 gene on proliferation and apoptosis in Jurkat cells and its mechanisms / 中国实验血液学杂志

This study was purposed to investigate the effect of knocking down eukaryotic elongation factor 1A1 (eEF1A1) gene on the proliferation and apoptosis in human acute T lymphocytic leukemia (T-ALL) cell line Jurkat and explore its mechanism. The eEF1A1 mRNA and protein expressions of Jurkat cells and 3 healthy adult peripheral blood mononuclear cells (PBMNC) were detected by real time PCR and Western blot, respectively. eEF1A1-shRNA lentivirus was constructed through molecular biological method, and was used to transfect Jurkat cells. Then, cell eEF1A1 mRNA and protein expressions were detected by real time PCR and Western blot, respectively. Cell proliferation, apoptosis and cycle were detected by MTT method, Annexin V-APC labeling and DNA ploidy analysis, respectively. Cell-related protein expressions of phosphatidylinositol-3-kinase (PI3K)/serine/threonine kinase (Akt) signaling pathway were detected by Western blot. The results showed that eEF1A1 mRNA and protein expression levels of Jurkat cells were significantly higher than that of healthy adult PBMNC, respectively (P < 0.01, P < 0.05). eEF1A1 mRNA and protein expressions of Jurkat cells were significantly knocked down by constructing eEF1A1-shRNA lentivirus. Compared to negative control group (transfected with negative control-shRNA lentivirus), cell proliferation in eEF1A1-shRNA group was significantly inhibited, cell apoptosis was remarkably induced, cell cycle was blocked in G(0)/G(1) phase, and the expression levels of p-Akt (Ser 473), nuclear factor kappa B (NF-κB), p-NF-κB (Ser 468), mammalian target of rapamycin (mTOR) and p-mTOR (Ser 2448) proteins were significantly reduced. It is concluded that eEF1A1 may be a putative oncoprotein in T-ALL cells. Knocking down eEF1A1 gene has noticeable effects on the proliferation inhibition and apoptosis induction of Jurkat cells, which may be mediated by the down-regulation of PI3K/Akt/NF-κB and PI3K/Akt/mTOR signaling pathway.

Inhibition of winter seedling raising in greenhouse of premature bolting in Angelica sinensis / 中国中药杂志

<p><b>OBJECTIVE</b>To study the inhibition effect of winter seedling raising in sunlight-greenhouse on premature bolting of Angelica sinensis.</p><p><b>METHOD</b>One factor of sowing date with 4 levels was tested at random design with 3 repeats.</p><p><b>RESULT</b>Sowing date of winter seedling raising had an important effect on seedling growth, seedling mature, plant growth, premature bolting, yield, quality, and extreme significant effect on yield. The bolting date of winter raised seedlings started in middle of July, 50 d later than tranditional seedlings, and bolting peck date was in the last ten days of July, 40 d later than the traditional seedlings. The highest ratio of premature bolting for winter raised seedlings was 1%, and the lowest was 0. A. sinensis roots sowed in November 28 had the highest yield, root dry ratio, ethanol extract, essential oil and ferulic acid contents compared to that in other sowing dates. The best sowing time was from end of November to middle of December.</p><p><b>CONCLUSION</b>Premature bolting of A. sinensis could be greatly inhibited by winter seedling raising, end of November to middle of December would be the best sowing time for winter seedling raising in greenhouse.</p>

Influence of humic acid fertilizer on biomass accumulation and quality of Angelica sinensis / 中国中药杂志

<p><b>OBJECTIVE</b>To study the influence of humic acid fertilizer on plant growth, assimilation base, dried biomass accumulation, yield, quality and disease infection of Angelica sinensis.</p><p><b>METHOD</b>Three kinds of humic acid fertilizer and an amino acid liquid fertilizer were tested in randomized groups at 1 level with 3 times repeat.</p><p><b>RESULT</b>T1 promoted plant and root growth effectively, increased dried biomass accumulation and fresh root average weight remarkably, the yield was increased, the content of ethanol extract was increased by 11.31%. T3 promoted plant and root growth quickly, enlarged leaves area and increased dried plant weight, but effect lasted shortly, the content of ethanol extract was increased by 5.23%. T4 increased more leaves in late growth period, enlarged leaves area, the yield was increased, the content of ethanol extract was increased by 3.09%. T2 increased fresh root average weight remarkably, the yield was increased.</p><p><b>CONCLUSION</b>Humic acid fertilizer and amino acid liquid fertilizer could effectively promote plant growth, enlarge leaves area, promote dried biomass accumulation and transformation to root and increase yield and content of ethanol extract effectively.</p>

Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the activin A receptor type II-like 1 gene (ACVRL1) mutations in a Chinese family with hereditary hemorrhagic telangiectasia (HHT2).</p><p><b>METHODS</b>The exons 3, 7 and 8 of ACVRL1 gene of the proband and her five family members were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced.</p><p><b>RESULTS</b>The proband had obvious telangiectasis of gastric mucosa, and small arteriovenous fistula in the right kidney. All the patients in the HHT2 family had iterative epistaxis or bleeding in other sites, and had telangiectasis of nasal mucosa, tunica mucosa oris and finger tips. ACVRL1 gene analysis confirmed that there is frameshift mutation caused by deletion of G145 in exon 3 in the 4 patients, but the mutation is absent in 2 members without HHT2.</p><p><b>CONCLUSION</b>The HHT2 family is caused by a 145delG mutation of ACVRL1 gene, resulting in frameshift and a new stop codon at codon 53.</p>

Two gene mutations in fibrillin 1 of Marfan syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect novel mutations in the fibrillin 1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) genes by screening the genes from 14 patients with Marfan syndrome.</p><p><b>METHODS</b>Denaturing high performance liquid chromatography (DHPLC) was introduced to screen for FBN1 and TGFBR2 mutations exon-by-exon. The DNA amplification fragments which DHPLC elution profiles showed different from the corresponding normal elution profile were sequenced to identify the positions and types of mutations. Restriction fragment length polymorphism (RFLP) was employed to further prove the mutations when needed.</p><p><b>RESULTS</b>Two gene mutations of the FBN1 were found in the patients with Marfan syndrome. They were a novel substitutional mutation (Intron29 +4A > T) of FBN1 and a recurrent nonsense mutation (8080C >T) of FBN1.</p><p><b>CONCLUSION</b>Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.</p>