Analysis of TGFBI gene mutation in a pedigree affected with corneal dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation in a large Chinese pedigree affected with congenital corneal dystrophy.</p><p><b>METHODS</b>Two patients from the pedigree were subjected to whole exome sequencing to determine the candidate gene. Suspected mutation was verified in 13 additional members by directional Sanger sequencing. Ccorrelation between genotype and phenotype was explored.</p><p><b>RESULTS</b>A missense mutation, c.1877A>C (p.His626Pro), was detected in exon 14 of the TGFBI gene in 8 patients from the pedigree, but not in five unaffected members and 100 unrelated healthy controls. Respectively, the mutation was predicted as "affecting protein function", "probably damaging" and "disease causing" by SIFT, PolyPhen-2 and MutationTaster.</p><p><b>CONCLUSION</b>The c.1877A>C mutation of the TGFBI gene probably underlies the disease in this pedigree.</p>

Effects of chloride channels on hemolysis induced by puerarin injection / 中国应用生理学杂志

OBJECTIVE@#To observe the effects of blocking and activating chloride channels on hemolysis induced by puerarin injection in rabbits and to investigate the roles of chloride channels in hemolytic reaction induced by puerarin injection.@*METHODS@#Rabbit erythrocyte suspension was incubated with different concentrations of puerarin injection(0.75, 1.5, 3, 6, 12 mg/ml) at 37C for 6 hours. The cell imaging system was employed to observe whether puerarin injection induced hemolysis. The hemolysis rate was detected by microplate reader and flow cytometry. Effects of activating and closing chloride channels on the hemolysis induced by puerarin injection were explored.@*RESULTS@#Puerarin injection could induce the hemolysis of rabbit erythrocytes . In the range of 1.5 mg/ml~12 mg/ml, puerarin injection could induce hemolysis in a concentration-dependent manner (=3, <0.01). The chloride channel blockers tamoxifen (20 μmol/L) and ATP (10 mmol/L) significantly inhibited the hemolysis induced by puerarin injection (=3~5, <0.01). Application of low concentration ATP (50 μmol/L) to activate the chloride channel significantly increased puerarin injection induced hemolysis (=4, <0.01).@*CONCLUSIONS@#The hemolytic effect of puerarin injection is dose-dependent , and the activation of chloride channel is closely related to the hemolysis induced by puerarin injection.

Effects of aspirin on apoptosis of homologous nasopharyngeal carcinoma cells with different radioresistance / 中国病理生理杂志

AIM:To investigate the effects of aspirin on the apoptosis of nasopharyngeal carcinoma cell lines CNE2R and CNE2 with different radioresistance and its potential mechanism. METHODS:The effects of aspirin on the cell viability, apoptosis, and protein levels of procaspase-3, cleaved caspase-3, procaspase-9, procaspase-12, PARP and cleaved PARP,PI3K p110α,Akt,Bcl-2,Bax and p27 in the CNE2R cells and CNE2 cells were detected by the methods of MTT assay,flow cytometry and Western blot. RESULTS:Aspirin inhibited the viability of homologous nasopharyngeal carcinoma cell lines CNE2 and CNE2R(with the IC50to CNE2 cells of 6.18,3.92 and 3.06 mmol/L for 24 h,48 h and 72 h,respectively;and with the IC50to CNE2R cells of 7.05,3.90 and 2.20 mmol /L for 24 h,48 h and 72 h,respec-tively). After treated with aspirin for 48 h, the apoptotic rate of CNE2R cells was higher than that of CNE2 cells (P<0.05). After treated with aspirin for 48 h,the protein levels of procaspase-3,procaspase-9,procaspase-12 and PARP were decreased,the protein levels of cleaved caspase-3,cleaved PARP and p27 were increased,and the protein levels of PI3K p110α,Akt and Bcl-2/Bax were decreased. CONCLUSION:Aspirin inhibits the viability of homologous nasopharyngeal carcinoma cell lines CNE2R and CNE2 with different radioresistance. Aspirin also induces the apoptosis of CNE2 and CNE2R cells,which is more effective in CNE2R cells. The underlying mechanisms may be involved in affecting PI3K/Akt signaling pathway,Bcl-2/Bax and p27 expression.

Comparison of partial Fourier reconstruction algorithms in MRI image processing / 重庆医学

Objective To compare the various partial Fourier reconstruction algorithms in MRI image processing and their advantages and disadvantages for improving algorithm .Methods Based on the conjugate symmetry in k‐space data in the partial Fourier reconstruction algorithm theory ,the 1 .5T medical magnetic resonance equipment was utilized ,the k‐space data were collect‐ed ,in reconstruction ,only 55% -80% of full data were utilized to simulate the partial collection pattern and reconstruct the images by using the several algorithms of zero filling ,conjugate synthesis ,Homodyne detection and POCS .Results The results presented that the ringing artifact was most obvious in the conjugate filling pattern and the POCS algorithm had the best effect for eliminating the ringing artifact .Conclusion The POCS algorithm repeatedly uses the weighted iteration with low frequency phase positions , which eliminates artifact ,meanwhile causes the lose of high frequency image details ,moreover the time consuming is longer ;the Ho‐modyne algorithm can keep a good balance between maintaining the image details and diminishing ringing .If the Sinc function serves as a weighting function for conducting phase unwrapping ,the image quality may be further improved .

Roles of chloride channels in apoptosis induced by adriamycin in nasopharyngeal carcinoma cells / 中国药理学通报

Aim To investigate the roles of chloride channels in the apoptosis and apoptotic volume de-crease (AVD)induced by adriamycin in nasopharyn-geal carcinoma CNE-2Z cells.Methods Apoptotic rates were detected by flow cytometry,and the volume changes were measured by the time-lapse live cell ima-ging technique.The patch clamp technique was used to record whole-cell chloride currents.Results Adria-mycin induced apoptosis of CNE-2Z cells.An early ap-optotic volume decrease was observed in the cell trea-ted with adriamycin.The cell volume was decreased by about 10% in 2 h.Adriamycin activated a chloride current which showed outward rectification.The chlo-ride channel blocker 5-nitro-2-(3-phenylpropylamino)-benzoate (NPPB ) could inhibit the adriamycin-in-duced chloride currents,apoptosis and prevent cell shrinkage.Conclusions Our findings suggest that ad-riamycin causes cell apoptosis by activation of chloride channels.Chloride channels may be involved in the apoptosis and apoptotic volume decrease induced by adriamycin in CNE-2Z cells.

Salt Effect in High-voltage Assisted Laser Desorption Ionization Mass Spectrometry / 分析化学

Salteffectinhigh-voltageassistedlaserdesorptionionizationmassspectrometry(HALDI-MS)has been studied under both positive and negative ion modes using L-tyrosine, β-cyclodextrin, α-lipoic acid, as well as the complex formed between α-lipoic acid and β-cyclodextrin as the test analytes. Compared the mass spectra obtained with and without the addition of salt, it is found that HALDI-MS can tolerate a higher amount of salt than electro spray ionization mass spectrometry ( ESI-MS) . Also, the addition of salt can enhance the HALDI-MS signal intensity of the complex ion of α-lipoic acid and β-cyclodextrin, and we suggest that such signal-enhancement effect is due to the formation of the three component complex consisting of α-lipoic acid,β-cyclodextrin and the positive ion of the salt.

Effects of interleukin-21 ,interleukin-23 and interleukin-4 on the pathogenesis of Guillain-Barré syndrome and the influence of intravenous immunoglobulin / 中华实用儿科临床杂志

Objective To investigate the effects of IL-21,IL-23 and IL-4 in the pathogenesis of Guillain-Barré syndrome(GBS) of children,and to analyze the influence of intravenous immunoglobulin(IVIG) on the serum levels of IL-21,IL-23 and IL-4 in GBS patients.Methods Forty-one pediatric patients with GBS hospitalized in our department from Jan.2005 to Sep.2012 were studied.According to the time of IVIG administration,patients were divided into group A and group B,given IVIG respectively within the 7th day and the 8th-12th day.According to Hughes score,patients were divided into mild group and severe group.The serum levels of IL-21,IL-23 and IL-4 were detected by means of ELISA before and after treatment.Results Before treatment,the serum levels of IL-21,IL-23 and IL-4 had no signifiant difference between group A and group B.After treatment,the serum levels of IL-21,IL-23 in group A and group B were significantly decreased than those before treatment (all P ＜ 0.05),with no significant difference in IL-4 levels.There was no signifiant difference in group A and group B in the serum levels of IL-21,IL-23 and IL-4 after treatment (all P ＞0.05).In the severe group,the serum levels of IL-21,IL-23 were significantly higher than those in the mild group before and after treatment (all P ＜ 0.05),with no significant difference in IL-4 levels.After treatment,the serum levels of IL-21,IL-23 were significantly decreased than those before treatment in the mild group and the severe group (all P ＜ 0.05),with no significant difference in IL-4 levels.Conclusions The serum levels of IL-21,IL-23 are significantly increased in GBS children,indicating they play an important role in the pathogenesis of GBS.Levels of IL-21 and IL-23 are significantly decreased after administration of IVIG,which showed that IVIG could inhibit the secretion of IL21 and IL-23,reduce cellular inflammatory response,and eventually prevent the development of GBS.IL-4 secretion is not obviously affected with IVIG,it might have a role in the recovery of GBS.

Design of high performance DSP-based gradient calculation module for MRI / 中国医疗器械杂志

A gradient calculation module based on high performance DSP was designed to meet the needs of digital MRI spectrometer. According to the requirements of users, this apparatus can achieve rotation transformation, pre-emphasis, shimming and other gradient calculation functions in a single chip of DSP. It then outputs gradient waveform data of channel X, Y, Z and shimming data of channel B0. Experiments show that the design has good versatility and can satisfy the functional, speed and accuracy requirements of MRI gradient calculation. It provides a practical gradient calculation solution for the development of digital spectrometer.

Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To study mtDNA, GJB2, GJB3 and determine gene mutation situs and frequency in Uighur and Han people with hereditary nonsyndromic hearing loss, and to compare the differences of gene mutation situs and frequency between Uighur and Han people.</p><p><b>METHODS</b>Blood samples were obtained from 93 patients (43 Uygur and 50 Han) with hereditary non-syndromic hearing loss and 110 normal people (56 Uygur and 54 Han). Genomic DNA was extracted from isolated leukocytes, and amplified by polymerase chain reaction (PCR). PCR products of GJB3 were sequenced directly; while PCR products of mitochondrial DNA 12S rRNA A1555G point mutations were analyzed by PCR-Alw26I digestion, and positive ones were further sequenced. GJB2 genes of 83 patients (43 Uygur and 40 Han) with hereditary non-syndromic hearing loss and 98 normal people (46 Uygur and 52 Han) were directly sequenced.</p><p><b>RESULTS</b>Among GJB3 genes of 93 patients, 2 cases of 33C-T, 2 cases of of 766G-A, 7 cases of 357C-T, and 4 cases of 798C-T were detected. Mitochondrial DNA 12SrRNA A1555G mutation was detected in 8 patients (2 Uygur and 6 Han). Nine kinds of base changes of GJB2 were detected: 109G-A, 233-235delC, 79G-A, 196G-A, 341A-G, 564G-A, 380G-A, 71G-A, and 35delG. In the control group, detected GJB3 mutations included 4 cases of 357C-T, 5 cases of 798C-T, and 2 cases of 93C-T; while 9 kinds of base changes of GJB2 were detected: 341A-G, 380G-A, 457G-A, 79-GA, 109G-A, 281A-G, 21G-T, 171G-T, and 368C-A. For mtDNA 12SrRNA A1555G, the difference between study group of and control group of Han people was statistically significant (P < 0.05). For GJB2 mutation 79G-A, the difference between study group and control group was statistically significant (P < 0.05) in both Uygur and Han people; while for GJB2 mutation 341A-G, the difference in study group between Uygur and Han people was statistically significant (P < 0.05). And for GJB3 mutation 798C-T, the difference was statistically significant both between study group and control group, and between Uygur and Han people (P < 0.05).</p><p><b>CONCLUSIONS</b>In Xinjiang, mutation rate was high for mtDNA 12SRNA A1555G. while GJB3 gene mutations were not the main cause of the hereditary nonsyndromic hearing loss. There were certain ethnic and geographical characteristics of GJB2and GJB3 mutations.</p>

An adaptive scaling hybrid algorithm for reduction of CT artifacts caused by metal objects / 中国医疗器械杂志

A new adaptively hybrid filtering algorithm is proposed to reduce the artifacts caused by metal in CT image. Firstly, the method is used to preprocess the projection data of metal region and is reconstruct by filtered back projection (FBP) method. Then the expectation maximization algorithm (EM) is performed on the iterative original metal project data. Finally, a compensating procedure is applied to the reconstructed metal region. The simulation result has demonstrated that the proposed algorithm can remove the metal artifacts and keep the structure information of metal object effectively. It ensures that the tissues around the metal will not be distorted. The method is also computational efficient and effective for the CT images which contains several metal objects.