Analysis of a Pedigree with Dopa-responsive Dystonia Caused by Novel Mutation of TH Gene / 中山大学学报(医学科学版)

@#【Objective】 To study the mutation characteristics of Tyrosine hydroxyls（TH） gene in a pedigree with dopa-responsive dystonia（DRD）. 【Methods】 Extraction of genomic DNA from peripheral blood of a proband and his parents and two sisters using high- throughput sequencing （NGS） method were detected on 256 known pathogenicity genes associated with dystonia and dyskinesia.【Results】Mutations on tyrosine hydroxylase（TH）gene in the exon 14 and exon 9 were detected in the proband and his eldest sister in this pedigree. They had a complex heterozygosity of c.1481C > T（p.Thr494Met）and c.943G >A（p.Gly315Ser），and one heterozygous mutation was carried by parents respectively. The mutation was not detected in his second sister and 50 people with normal phenotype controls. 【Conclusion】 The mutations of TH gene c. 1481C > T（p.Thr494Met）and c. 943G > A（p.Gly315Ser）led to the gene abnormality in DRD family，and a new mutation of TH gene was found，which expanded the relationship between DRD genotype and clinical phenotype. It is vital that early accurate diagnosis and treatment of DRD is the key to improve prognosis.

Expression of miR-138 and its effects on human lens epithelial cells apoptosis in age-related cataract patients / 眼科新进展

Objective To detect the expression of miR-138 in lens tissues of agerelated cataract and explore the effects of miR-138 on the proliferation and apoptosis of human lens epithelial cells and its possible target genes.Methods Real-time quantitative PCR (RT-qPCR) was applied for the detection of the expression of miR-138 and prediction of target gene sirtuin (silent information regulator 1) (SIRT1) in patients with age-related cataract (cataract group) and anterior lens capsules (normal control group).Then miR-138 mimics,mimic controls,miR-138 inhibitors and inhibitor controls were transfected into the human lens epithelial cell line (SRA01/04),and the expression of SIRT1 mRNA and protein was detected by RT-qPCR and Western blot,accordingly.At 72 hours after transfection,the cells were exposed to 200 μmol · L-1 H2O2 for 1 hour,followed by detection of the activity of Caspase-3 by the Caspase-3 activity assay kit,and identification of the targeted relationship between miR-138 and SIRT1 by dual luciferase reporter assays.Results Compared with the normal control group,the expression of miR-138(3.64 ±0.19) was significantly increased (P ＜0.001),but the expression of SIRT1 mRNA(0.32 ± 0.06) was significantly decreased (P ＜ 0.001) in the cataract group.Moreover,The expression levels of SIRT1 mRNA(0.42 ± 0.05) and protein(0.46 ± 0.05) in cells transfected with miR-138 mimics were significantly decreased,while the activity of Caspase-3 (3.24 ± 0.17) was significantly elevated when compared with cells transfected with minic controls (all P ＜ 0.05);Compared with cells transfected with inhibitor controls,the expressions of SIRT1 mRNA(2.95 ±0.13) and protein(1.98 ±0.12) were significantly upregulated,whereas Caspase-3 activity(0.42 ±0.05) was significantly decreased in cells transfected with miR-138 inhibitors (all P ＜0.05).And fmally,dual luciferase reporter assays showed the confirmation SIRT1 as a direct target of miR-138.Conclusion miR-138 is highly expressed in the lens capsule of age-related cataract patients,and it can promote the apoptosis of lens epithelial cells by negatively regulating the expression of SIRT1.

Effect of miR - 138 on the antioxidant function of lens epithelial cells affected by age-related cataracts / 国际眼科杂志(Guoji Yanke Zazhi)

·AIM:To investigate the effects and mechanism of miR-138 in mediating the antioxidant function of lens epithelial cells affected by age-related cataracts. ·METHODS:Real-time quantitative PCR(RT-qPCR) was used to detect miR-138 expression in the anterior lens capsules of healthy people, the anterior lens capsules of patients with age-related cataracts, and human epithelial cell line (SRA01/04) cells exposed to oxidative stress. A 2',7'-dichloro-fluorescein diacetate (DCFH-DA) probe was used to measure the levels of endogenous reactive oxygen species (ROS) in human lens epithelial cells (hLECs) exposed to 400μ mol/L H2O2for 1h. SRA01/04 cells were transfected with either miR-138 mimics,mimic controls, miR-138 inhibitors or inhibitor controls. After 72h,these cells were exposed to 400μ mol/L H2O2for 1h, then p53 and Bax mRNA expression were measured using RT-qPCR. Expression of p53 and Bax protein were also measured by western blotting analysis. Finally, cell viability was assessed using an MTS assay. ·RESULTS: Compared to the control group, expression of miR-138 in the anterior lens capsules of age-related cataract patients and in SRA01/04 cells exposed to oxidative stress significantly increased (P<0.001). Levels of endogenous ROS were significantly elevated in hLECs exposed to oxidative stress (P<0.001). Compared to the mimic control group, the hLECs in the miR-138 mimic group expressed significantly higher levels of p53 and Bax mRNA and protein while cell viability was significantly reduced(P<0.001). Conversely, p53 and Bax mRNA and protein expression were significantly reduced in the miR-138 inhibitor group as compared to the control group, while the cells in this group had much higher levels of cell viability (P<0.001). · CONCLUSION: The expression of miR - 138 is upregulated in the anterior lens capsules of age-related cataract patients. MiR-138 decreases the anti-oxidative stress capacity of lens epithelial cells by upregulating p53 and Bax, while inhibiting cell proliferation and repair. This finding suggests that miR-138 may play a key role in the development of age-related cataracts.

Effect of modified qianyang pellet on extravascular lung water and its correlated factors at the early fluid resuscitation stage of septic shock / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To investigate the effect of modified Qianyang Pellet (MQYP) on extravascular lung water and its correlated factors at the early fluid resuscitation stage of septic shock.</p><p><b>METHODS</b>Forty-eight patients with septic shock were randomly assigned to the treatment group (26 patients) and the control group (22 patients). They were treated with basic treatment combined with fluid resuscitation until the central venous pressure (CVP) reached > or = 8 mm Hg. Besides, patients in the treatment group received MQYP additionally. The haemodynamic indices, including CVP, cardiac index (CI), extravascular lung water index (EVLWI), systemic vascular resistance index (SVRI), global end-diastolic volume index (GEDVI), and oxygenation index (PaO2/ FiO2) were monitored at 8 (T8), 16 (T16) and 24 h (T24) after ending fluid resuscitation, and the 28-day mortality was observed.</p><p><b>RESULTS</b>Compared with the control group, CI, GEDVI and PaO2/FiO2 increased significantly at T8, T16 and T24, while EVLWI and 28-day mortality lowered in the treatment group (P < 0.05 or P < 0.01). But the difference in terms of CVP and SVRI between the two groups at corresponding time points was statistically insignificant (P > 0.05).</p><p><b>CONCLUSION</b>On the basis of the fluid resuscitation and basic treatment, MQYP could further improve CI, GEDVI and PaO2/FiO2, decrease EVLWI and 28-day mortality, but showed no effect on CVP or SVRI at the early fluid resuscitation stage of septic shock.</p>

PKD3 contributes to up-regulation of prostate-specific antigen in prostate cancer cells / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the role of PKD3 in prostate-specific antigen (PSA) expression regulation in androgen-dependent prostate cancer cells and explore the mechanism.</p><p><b>METHODS</b>LNCaP cells containing low level of PKD3 were transfected with pEGFP-C2 or pEGFP-PKD3 plasmid followed by dihydrotestosterone (DHT) treatment, and PSA mRNA level was analyzed by RT-QPCR using 2(-delta delta Ct) method. Wild-type or kinase-dead PKD3 plasmids, human androgen receptor plasmid pSVAR0, pMMTV-luc of AR luciferase reporter and renilla luciferase reporter pRL-SV40 were cotransfected into HEK293 cells, and after treatment with DHT for 24 h, the cells were harvested and AR transcriptional activity were determined by dual-luciferase reporter assay. The subcellular localization of endogenous PKD3 and AR and their colocalization induced by DHT were observed by confocal microscopy.</p><p><b>RESULTS</b>PSA mRNA level triggered by DHT was significantly increased by overexpression of pEGFP-PKD3 in LNCaP cells compared with that in pEGFP-C2 control cells (P<0.001). AR transcription in response to DHT treatment was also significantly up-regulated by wild type PKD3 expression (P<0.001), but partially down-regulated by kinase-dead PKD3 mutant (P<0.01). Endogenous PKD3 and AR in LNCaP cells not only translocated from the cytoplasm to the nucleus, but also colocalized with each other after DHT stimulation.</p><p><b>CONCLUSION</b>Elevated AR transcriptional activity and enhanced expression of PSA induced by PKD3 in response to DHT treatment suggest that PKD3 contributes to the proliferation and malignant growth of androgen-dependent prostate cancer cells.</p>

Effect of Shenmai Injection on ventricular diastolic function in patients with chronic heart failure: An assessment by tissue Doppler imaging / 中国结合医学杂志

<p><b>OBJECTIVE</b>To assess the effect of Shenmai Injection (SMI) on left ventricular diastolic function (LVDF) in patients with chronic heart failure (CHF) by tissue Doppler imaging (TDI).</p><p><b>METHODS</b>Sixty-four CHF patients were randomly assigned to two groups, the observation group and the control group. Basic treatment including polarized liquid therapy was given to all the patients. In addition, SMI was given to patients of the observation group. The treatment duration was 14 days. TDI was performed in all the patients 3 days prior to the initiation of the treatment and one week after the medication to measure the average movement velocity of the mitral ring of the left ventricle at the early systolic stage and late diastolic stage (Ea and Aa); the outcomes were compared with the corresponding parameters obtained from blood flow Doppler echocardiography, namely, the velocity of the E-wave (E) and A-wave (A).</p><p><b>RESULTS</b>After treatment, Ea and Ea/Aa increased and Aa decreased significantly in the observation group (P<0.05). In the control group, although some improvement was seen, there was no statistically significant change (P>0.05). No statistical significance was shown between groups in these parameters after treatment.</p><p><b>CONCLUSION</b>TDI assessment shows that SMI could effectively improve the LVDF in CHF patients.</p>

Radiographic diagnosis of traumatic bronchial rupture / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the X-ray and CT findings of traumatic bronchial rupture for early radiographic diagnosis and treatment.</p><p><b>METHODS</b>The chest plain X-ray films and CT images of 21 patients with traumatic bronchial rupture confirmed by operations or bronchoscopy were retrospectively analyzed.</p><p><b>RESULTS</b>The main radiographic findings of traumatic bronchial rupture included interrupted tracheobronchial air column, atelectasis, lung ptosis, pneumomediastinum and subcutaneous emphysema, pneumothorax or hydropneumothorax. CT scanning also revealed tracheobronchial wall defect, bronchostenosis, and bronchial occlusion, displacement and angulation.</p><p><b>CONCLUSION</b>Chest plain X-ray film combined with CT scanning has important values for early diagnosis of traumatic bronchial rupture.</p>

Effect of Changtong oral liquid on fibroblast proliferation in normal and adhesive rat peritoneal tissues / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the effect of Changtong oral liquid (CTOL) on the proliferation of cultured fibroblasts derived from normal peritoneum (NFs) and adhesive peritoneum (AFs) of rats.</p><p><b>METHODS</b>Twenty male SD rats were randomized into 4 groups, including a normal serum group and 3 CTOL groups with CTOL treatment at low, medium or high doses. Serum samples were obtained from the abdominal arteries of the rats after oral treatment with CTOL for 7 days. The fibroblasts were isolated from the peritoneum by means of tissue culture, and the passage 3-8 cells were cultured with the sera of the normal control and CTOL groups for 24, 48, 72 and 96 h. MTT assay was used to observe the proliferation of the fibroblasts.</p><p><b>RESULTS</b>The dose of CTOL was inversely correlated to the absorbance but positively to the growth inhibition rates. Compared with the NFs cultured in normal control rat serum, the NFs in serum from CTOL groups showed no obviously changes in the absorbance at 24 and 48 h, but displayed significant reduction at 72 and 96 h (P<0.01). Compared with the AFs in normal rat serum, the AFs in the 3 CTOL groups all showed significantly decreased absorbance at 24, 48, 72 and 96 h (P<0.05). At the same time point, the inhibition rate of AFs in low-dose CTOL group showed no significant difference from that in the normal control group, but CTOL at a medium dose resulted in a significantly higher inhibition rate of AFs at 72 h (P<0.05). High-dose CTOL produced significant differences in the inhibition rates of AFs and NFs (P<0.05).</p><p><b>CONCLUSION</b>CTOL can inhibit the proliferation of AFs and NFs in vitro. AFs appear to be more sensitive to CTOL, which has a dose-dependent inhibitory effect of AF proliferation.</p>

Permeabilities of rebamipide via different intestinal mucosa in the diffusion chamber in vitro / 药学学报

The objective of this study is to investigate the permeabilities of rebamipide across the jejunal, ileal and colonic membranes in rat. The permeability (Papp) of rebamipide via rat intestinal membranes at concentration of 80 micromol L(-1) was evaluated by an in vitro diffusion chamber system after the membranes were isolated from the rat intestine. And the concentration of rebamipide in the receptor was determined by HPLC. As a result, the permeability of rebamipide across the jejunal or ileal membrane was higher than that across the colonic membrane, and the permeability of rebamipide in the ileal tissue from the serosal to mucosal direction was greater than that from the mucosal to serosal direction. Therefore, there was a regional difference in the permeability of rabamipide across the jejunum, ileum and the colon in rat. Also, the transporters in the intestinal mucosa as p-glycoprotein may not be involved in the transport of rebamipide.

Preparation of gemcitabine polybutylcyanoacrylate nanoparticles / 南方医科大学学报

<p><b>OBJECTIVE</b>To optimize the preparation process of gemcitabine polybutylcyanoacrylate nanoparticles (GCTB- PBCA-NP).</p><p><b>METHODS</b>According to the particle size, the entrapment efficiency and the loading quantity of GCTB-PBCA-NP, single factor analysis was carried out to optimize the component composition and preparation process based on an orthogonal design.</p><p><b>RESULTS</b>The mean particle size of the NP was (112-/+9) nm with an entrapment efficiency of (54.12-/+2.43)% and drug loading of (11.08-/+0.89)%.</p><p><b>CONCLUSION</b>An optimized nanoparticular drug delivery system is obtained by emulsion polymerization.</p>

Screening of peptide inhibitors of acetylcholinesterase from 12-mer random phage display peptide library / 南方医科大学学报

<p><b>OBJECTIVE</b>To screen the peptide inhibitor of acetylcholinesterase (AChE) from 12-mer random phage display peptide library.</p><p><b>METHODS</b>Human AChE was used as the target to screen its binding peptides from 12-mer random phage display peptide library. The positive phage clones were isolated after three rounds of biopanning followed then by sequence analysis and their activity evaluation.</p><p><b>RESULTS</b>Six positive phage clones binding to human AChE were obtained, and 4 of them sharing the conservative sequence W(S/P)HY inhibited the enzyme activity of AChE.</p><p><b>CONCLUSION</b>Acquisition of AChE inhibitor from phage display library provides clues for designing peptide inhibitors of AChE.</p>

Effect of Seasonal Variation on Blood Lead in Health Children / 实用儿科临床杂志

Objective To explore effects of seasonal variation on blood lead in children.Methods Anodic stripping voltammetry(ASV) was used to detect blood lead level in children.The enrolled children were divided into 4 groups as follows:young children(ages 1 month to 3 years);preschool(ages 3 to 6 years);school(ages 6 to 12 years);teenagers(ages 12 to 18 years),and children′s blood lead level and lead poisoning rates were analyzed in the light of seasonality.Results Total 13 233 children were observed,aged from 1 month to 18 years old,8315 males,4918 females.The average blood lead levels were 60 ?g/L,the 5~(th) and 95~(th) percentage was 19,138 ?g/L.The rate of lead poisoning in children was 14.8%,with the majority of low-grade(?~2=116.3125 P

Effects of hyperbaric oxygenation therapy on the concentrations of sICAM-1,sVCAM-1,sE-selectin and matrix metalloproteinase-9 in patients with cerebral infarction / 中华物理医学与康复杂志

Objective To investigate the effects of hyperbaric oxygenation(HBO)therapy on serum con- centrations of soluble intercellular adhesion molecule-1(slCAM-1),soluble vascular cell adhesion molecule-1(sV- CAM-1),soluble E-selectin(sE-selectin)and matrix metalloproteinase-9(MMP-9)in patients with aeute cerebral infarction and their clinical implications.Methods One hundred and twelve cases of cerehral infarction in the ca- rotid artery system were assigned into two groups.Patients in the routine treatment group(RT group,n=62)were treated with routine clinical treatment regime,whereas those in the HBO group(n=50)were treated with H BO ther- apy in additioo to routine clinical treatment.Thirty age- and sex-matched normal subjects were recruited and served as controls.The serum concentrations of sICAM-1,sVCAM-1,sE-selectin and MMP-9 were measured hy using ELISA method before and 10 days after treatment.The assessment of neurological deficits using National Institutes of Health Stroke Scale(NIHSS)score was conducted before treatment,and at 10 and 30 days after treatment,and the therapeutic efficacy was evaluated.Results The concentrations of sICAM-1,sVCAM-1,sE-selectin and MMP-9 of the patients were significantly higher than those of the control subjects.These parameters were all decreased signifi- cantly after treatment in the two patient groups.Moreover,these parameters were lower in the HBO group than those in the RT group after treatment.The NIHSS scores of HBO group were significantly lower than that of the RT group at the 30th clay post-treatment.The effective rate of HBO group was higher than that of RT group.Conclusion HBO therapy can decrease the serum levels of sICAM-1,sVCAM-1,sE-seleetin and MMP-9,which might be one of the mechanisms of HBO in the treatment of cerebral infarction.