Genetic analysis and prenatal diagnosis for patients with non-syndromic hearing impairment / 天津医药

Objective To explore the genetic pathogen of patients with non-syndromic hearing impairment and to provide prenatal diagnosis for the families of hereditary deafness. Methods Mutation screening of GJB2, SLC26A4, GJB3 and mitochondrial 12 S rRNA genes was performed in 208 patients with non-syndromic hearing impairment by gene chip. Then direct sequencing was used in 41 patients who were found one mutation of GJB2 or SLC26A4 gene. And prenatal diagnosis was carried out in two families by direct sequencing. Results Eighty-six patients (41.35％) were found at least one mutation by gene chip. Among them, 40 patients were found to carry two mutations and 46 patients were found to carry one mutation. The most frequent mutation was 235delC, which was found in 46 patients. And 12 cases were found the second mutation through direct sequencing. A total of 52 (25.00％) patients were detected two mutations. Prenatal diagnosis showed that one fetus carried compound mutations of 299-300delAT and 235delC, and another one carried heterozygous mutation of IVS7-2A>G. Conclusion Patients with non-syndromic hearing impairment can be accurately diagnosed by gene chip and Sanger sequencing. The prenatal diagnosis is primary means for high-risk fetuses.

SNP microarray analysis of retention abortion chorionic villus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To compare villus cell culture and karyotype analysis with single nucleotide polymorphism (SNP) microarray technology for the detection of chorionic villus chromosome in patients with retention of abortion.</p><p><b>METHODS</b>Forty cases were analyzed with the two methods.</p><p><b>RESULTS</b>Chorionic villus culturing was successful in 29 cases, among which 10 were found to have an abnormal karyotypes. For the SNP microarray analysis, all 40 cases were successful, among which 16 were shown to have an abnormal molecular karyotype.</p><p><b>CONCLUSION</b>SNP microarray technology is highly accurate and specific, which is particularly suitable for the detection of chromosomal deletions or duplications, uniparental disomy, low-percentage mosaicism and other chromosomal abnormalities. It has provided an effective supplement to the conventional chorionic villus culture and karyotype analysis.</p>

Reference intervals for liver function tests in normal pregnant women in the last trimester of pregnancy / 国际检验医学杂志

Objective To explore changes of serum levels of liver function indicators and their reference intervals in pregnant women in the last trimester of pregnancy ,and to analyse its clinical significance .Methods From July 2013 to June 2014 ,a total of 4 659 cases of pregnant women in the last trimester of pregnancy and 3 089 healthy non‐pregnant women were enrolled in this stud‐y .Serum levels of alanine aminotransferase(ALT) ,aspartatre transaminase(AST) ,total protein(TP) ,albumin(Alb) ,pre‐albumin (PA) ,total bilrubin(TBIL) ,direct bilrubin(DBIL) ,indirect bilrubin(IBIL) ,γ‐glutamyl transpeptidase(GGT)and mitochondrial as‐partate aminotransferase(m‐AST) were determined by fully automatic biochemical analyzer .Results Compared with healthy non‐pregnant women ,serum levels of ALT ,AST ,TP ,Alb ,PA ,TBIL ,DBIL ,IBIL and GGT were significantly decreased ,while serum le‐vers of ALP ,m‐AST and TBA were significantly increased in pregnant women in the last trimester of pregnancy ,there were statis‐tically significant differences(P<0 .05) .Conclusion This study suggested that the liver functions of pregnant women were signifi‐cantly different from healthy non‐pregnant women .Each clinical laboratory should establish reference intervals of liver function indi‐cators for pregnant women at each stage of pregnancy ,so as to timely ,correctly and reasonably evaluate their liver functions and material nutrition status ,and provide better antenatal care services .

Antibacterial mechanism of silver nanoparticles：a dose-dependent promotion of cell apoptosis / 中国组织工程研究

BACKGROUND:Silver nanoparticles (AgNPs) show strong antibacterial effect and are not easy to have drug resistance. But the antibacterial mechanisms of AgNPs have not been wel developed. OBJECTIVE:To explain the antibacterial mechanisms of AgNPs. METHODS:We investigated the influence of Ti, TiO2 and TiO2 containing AgNPs onEscherichia coliand Staphylococcus aureus by bacterial inhibition ring test. Escherichia coli was cultured in LB liquid medium with 0, 5, 10 mg/L AgNPs. We measured the absorbance value of bacterial culture. DNA gel electrophoresis was used to study the effect of AgNPs onEscherichia coliDNA. Then we researched the character of apoptosis on Escherichia coli by Annexin V and PI staining, using flow cytometry. RESULTS AND CONCLUSION:The inhibiting effect of Ti and TiO2 onEscherichia coliandStaphylococcus aureus was not obvious. But the inhibition rings of TiO2 containing AgNPs to bacteria appeared. The absorbance value of Escherichia coliculture was reduced whenEscherichia coliwas co-cultured with AgNPs. And this decrease tendency was in direct proportion with AgNPs concentration. AgNPs reduced the amount of DNA of Escherichia coli and this tendency was directly proportional with AgNPs concentration. TheEscherichia coli apoptosis rate induced by AgNPs was increased and this tendency was positively correlated to the AgNPs concentration. These results indicate that AgNPs can induce bacterial apoptosis to influence the growth of bacteria.

Development of luminescent oxygen channeling immunoassay for pregnancy associated plasm a protein A / 中国免疫学杂志

Objective:To develop a luminescent oxygen channeling immunoassay for pregnancy associated plasm a protein A.Methods:The monoclonal antibody of PAPP-A was labeled with biotin ,the polyclonal antibody of PAPP-A was coated on receptor particles.The LOCI reagents also contained sensitizer particles coated with streptavidin.The optimal test conditions and analytical per-formance of the method were studied.Results:The within-run and the between-run coefficients of variation were 5.91%-7.94% and 6.14%-9.69%,respectively;the analytical sensitivity was 2.8 mU/L and the function sensitivity was 4.6 mU/L,good linear in 2.8 mU/L-8 000 mU/L range;the recovery rate was 96.7%-100.3%.The interference rate of hemolysis , icterus and triglycerides were less than 10%; there is no Hook effect of PAPP-A concentrations up to 8 000 mU/L;the correlation coefficient between clinical samples detection results and Time resolved fluoroimmunoassay analysis results was 0.974.Conclusion:This LOCI can be used for the quantitative of serum PAPP-A,and detection performance in line with the requirements of clinical diagnostic reagents .

Analysis of laboratory examination of recurrent vaginitis / 国际检验医学杂志

Objective To explore laboratory examination method of vaginal infection disease ,and to investigate the etiology of recurrent vaginitis .Methods 324 patients with recurrent vaginitis were selected to investigated the symptoms ,signs and vaginal discharge examination .Results (1)Among 324 patients ,293 cases (90 .4% ) of single infection and 31 cases (9 .6% ) mixed infec-tions were founded .There were 97 cases with VVC ,81 cases with CV ,17 cases with AV ,12 cases with BV ,and 14 cases with TV in the single infection cases .(2)In the 120 cases with VVC ,Candida albicans were accounted for 65 .0% ,non-Candida albicans strains were founded in 42 cases (35 .0% ) .(3)Among 28 cases of AV ,Escherichia coli ,Staphylococcus aureus ,Streptococcus aga-lactiae and Enterococcus f aecalis were main bacteria .Conclusion Recurrent vaginitis is common in clinical obstetrics and gynecolo-gy .Because of complex pathogeny ,clinicians should pay attention to laboratory results ,combined with the symptoms and signs , comprehensive evaluation ,improve disease diagnosis and treatment .

Bone morphogenetic proteins and tumors / 国际肿瘤学杂志

Bone morphogenetic proteins (BMPs) are multi-functional growth factors,they are found not only inducer of new bone formation,but also have critical roles in cell growth,differentiation,migration,apoptosis,embryogenesis and organogenesis.Studies show that BMPs are closely related to tumorigenesis and metastasis,which have important practical values in tumour therapy.

The Determination of Pulmonary Artery Hypertension by Levels of Plasma Atrial Natriuretic Peptide and Pulmonary Perfusion Imaging / 中国医科大学学报

Objective:Our aim was to study the levels of atrial natriuretic peptide (ANP) and pulmonary perfusion imaging in determining of pulmonary artery hypertension (PAH). Methods: We measured ANP levels by using radioimmunoassay after making various types of PAH in rabbits. Catheterization and pulmonary perfusion tomographic imaging were used in the control group. Results: When the pulmonary artery pressure increased slightly, the ANP levels were lower in PAH group than that of control group, but the difference was not significant (t=1, P>0.05). At the same time, pressure measured by catheterization did not change as the control group, but the ratio of back/abdomen radiopharmaceuticals distribution which was measured with pulmonary perfusion tomographic imaging was significantly higher in PAH group than that of the control (t=2.5, P<0.05). The difference between the ANP levels when the pulmonary artery pressure increased medially and seriously was significant (t＝4.0 and 6.5, P＜0.05). The other two methods got the same result (P＜0.05). Results of three examining methods were positively related. Conclusion:The ANP levels can determine the degree of PAH, and it was simple. But it was not as sensitive as that of pulmonary perfusion tomographic imaging.