Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH).</p><p><b>METHODS</b>Clinical information was collected from ten patients with WHS. Genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH.</p><p><b>RESULTS</b>All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3.</p><p><b>CONCLUSIONS</b>The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.</p>

Studies on new co-processed excipient consisting of lactose and gelatinized starch / 中国中药杂志

Co-processed excipients withgelatinized or non-gelatinized starch were prepared by spray drying. Powder and tablet properties of corocessed excipients prepared were compared with those of physical mixtures and spray-dried lactose. Their applicability in traditional Chinese medicine (TCM) powder tableting was tested on two TCM extracts, i.e., the gardenia extract and the Herba Sedi extract. It was shown that gelatinizing starch before co-spray drying with lactose could improve the performance and efficiency of starch as a binder, resulting in remarkable improvement in physicomechanical properties of co-processed excipients prepared. Conpared to self-made and commercially available spray-dried lactose, co-processed excipients achieved better compactability and higher drug loading for TCM extracts. In conclusion, the lactose-gelatinized starch co-processed excipient, with excellent physicomechanical properties, is promising to be explored as a new excipient for direct tableting.

Effect of dihydroartemisinin combined irradiation on the apoptosis of human lung cancer GLC-82 cells and its mechanism study / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To study the effect of dihydroartemisinin (DHA) combined irradiation on the apoptosis of human lung cancer GLC-82 cells and to study its mechanism.</p><p><b>METHODS</b>The growth inhibition rate of GLC-82 cells acted by different concentrations DHA was detected using MTT assay at 24, 48, and 72 h, respectively. Clone forming test was used. With multi-target single-hit model, the radiosensitization effect was assessed by calculating sensitizing enhancement ratio (SER).The effect of DHA combined irradiation on the apoptosis of GLC-82 cell cycle distribution and apoptosis were measured by flow cytometry. The protein expression of p53, p21, Bcl-2, and Bax were detected by Western blot.</p><p><b>RESULTS</b>Different concentrations DHA (4, 8, 16, 32, 64, and 128 μg/mL) had cytotoxicity on GLC-82 cells. The IC50 for 24, 48, and 72 h was 38.25,20.58, and 10.36 μg/mL, respectively, in obvious dose- and time-dependent manner. The growth inhibition rate was more significantly increased than that of the blank control group (P < 0.01, P<0.05). DHA had sensitization enhancement effect on GLC-82 cells, with SER of 1.4. DHA combined irradiation could obviously change the structure of GLC-82 cells cell cycle and induce apoptosis (with the apoptosis rate of 21.5%), which was significantly different from that of the blank control group (P < 0.05). Western blot showed the expression of p53 and p21 protein could be increased by DHA combined irradiation, and the expression of Bcl-2 protein down-regulated (P <0.01, P <0. 05).</p><p><b>CONCLUSIONS</b>DHA had stronger cytotoxicity and radiosensitization on GLC-82 cells. Its mechanisms might lie in making the arrest of GLC-82 cells' growth at G0/G1 phase, decreasing the ratio of cells at S phase, restoring the function of p53, decreasing the expression of Bcl-2 protein, and inducing apoptosis in GLC-82 cells.</p>

Characterization of flowability of pharmaceutical powders based on multivariate analysis method / 药学学报

The main methods of characterizing the flowability of pharmaceutical powders include repose angle method, HR method, Carr's index method, Jenike flow function method, fractal dimension method, and mass flow rate method, etc. Regarding powders with different flowabilities as the research subject, comprehensive features of pharmaceutical materials were investigated and characterized. The multivariate analysis method was employed to evaluate and analyze flowability values of the tested pharmaceutical materials. Comparing with the method of the mass flow rate, it was feasible to use multivariate analysis method to evaluate the flowability of powders. Simultaneously, the flowability of pharmaceutical materials could be ranked and definitely quantified, and critical values be determined according to the actual production, which has promoted the previous methods dependent only on the single parameter, i.e. repose angle and compression degree methods. A relatively objective standard method of evaluating flowability of powders is formed.

Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to screen the mitochondrial DNA 12S rRNA C1494T mutation in 20 patients with aminoglycoside antibiotic induced hearing loss, 136 sporadic non-syndromic hearing loss patients and 50 probands of pedigrees with non-syndromic hearing loss.</p><p><b>RESULTS</b>The C1494T mutation did not appear in all cases except for the positive control.</p><p><b>CONCLUSION</b>Incidence of mitochondrial DNA C1494T mutation is much lower than that of mitochondrial DNA A1555G mutation in non-syndromic hearing loss of Chinese population. Mitochondrial DNA C1494T mutation may be a rare variation in non-syndromic hearing loss and is not the main cause of aminoglycoside antibiotic induced-deafness.</p>

Experimental study of bone morphogenetic protein-2 in noncemented fixation of prosthesis / 中华外科杂志

<p><b>OBJECTIVE</b>To study on the method of combining rhBMP(2) with porous-coated implants, and compared the histological and biomechanical results of 4 types of implants by being inserted into the femur of canine.</p><p><b>METHODS</b>4 types of implants which are porous-coated implants (PCA), PCA implants combined with BMP, PCA implants coated with hydroxyapatite and HA coated cylindrical implants had been inserted into the femur of 16 canines. After 4, 8, 12 and 24 weeks the femur of the canines with the implants were retrieved. Bone ingrowth and shear strength of the interface was studied and analysed by the means of X-ray, soft X-ray, fluorescence tag, non-decalcification bone ground section, computer-aided image analysis procedure and biomechanical test.</p><p><b>RESULTS</b>X-ray, soft X-ray, fluorescence tag, non-decalcification bone ground section and computer-aided image analysis procedure was used in histological study, and it showed that bony ingrowth into interface more than the other groups, even the maturation of newly formed bone. Non-decalcification bone ground section observation and computer aided image analysis showed the results: the new bone formation ratio of BMP group was 26.58% +/- 4.56% at 4 weeks post-implantation, which was much higher than the other groups, and there was significant difference between BMP group and each of the other group statistically (P < 0.05). Results of biomechanical study using push-out test showed that shear strength of each group appeared to rise with time. Shear strength of BMP group reached a high level at 4 weeks which was 18.94 +/- 5.11Mpa and almost twice of the other group, and there was also statistical difference between BMP group and each of the other group (P < 0.05). And the new bone formation ratio and shear strength of BMP group at 8, 12, 24 weeks post-implantation was still higher than the other group, but there was no statistically difference.</p><p><b>CONCLUSIONS</b>Porous-coated implants combined with rhBMP can enhance bone ingrowth at bone-implant interface especially at the early period post-implantation. Porous-coated implants combined with rhBMP(2) can not only shorten the time of new bone formation and bone ingrowth but also enhance shear strength of bone-implant interface.</p>