RESUMO
<p><b>BACKGROUND</b>Genetic association studies on populations of European origin have identified the DCDC2 gene as a susceptibility locus for developmental dyslexia. Here, we sought to investigate the association of DCDC2 polymorphisms with developmental dyslexia in children of Han Chinese origin.</p><p><b>METHODS</b>We undertook a case-control genetic association study on 76 dyslexic children and 79 non-dyslexic matched controls. We isolated DNA from oral mucosal cell samples and genotyped two DCDC2 coding-sequence single nucleotide polymorphisms, rs2274305 and rs6456593, in each sample using SNaPshot single nucleotide extension. We compared the allele and genotype frequencies between the groups using the χ(2) test and analyzed the relationship between dyslexia and the polymorphism at both loci using unconditional logistic regression. We also predicted haplotypes and compared their frequencies between the two groups.</p><p><b>RESULTS</b>The differences in the genotype distribution and the allelic genes of the two single nucleotide luci of the DCDC2 gene, rs2274305 and rs6456593, between the two dyslexic and non-dyslexic groups were statistically meaningless (P > 0.05). The differences in the haplotype distributions of the DCDC2 gene between the dyslexic and normal group were statistically meaningless (P > 0.05).</p><p><b>CONCLUSION</b>The DCDC2 gene may not be a susceptibility factor for developmental dyslexia among the Han Chinese. However, methodological issues may have prevented the detection of positive associations.</p>
Assuntos
Criança , Feminino , Humanos , Masculino , Povo Asiático , Dislexia , Genética , Predisposição Genética para Doença , Genética , Genótipo , Haplótipos , Genética , Proteínas Associadas aos Microtúbulos , Genética , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , GenéticaRESUMO
<p><b>OBJECTIVE</b>To investigate whether homocysteine (Hcy) participates the proliferation of the spontaneously hypertensive rat(SHR) vascular smooth muscle cell (VSMCs) and the molecular mechanism.</p><p><b>METHODS</b>The rat's arota were removed. The primary SHR VSMCs were isolated and cultured in vitro, then the SHR VSMCs were divided into four groups: (1) control group, (2) Hcy group, (3) 18alpha-glycyrrhetinic acid (GA) group, (4) Hcy + 18alpha-GA group. We detected proliferation of the SHR VSMCs by MTT and flow cytometry. The expression and co-localization of the connexin (Cx) 43 and Cx40 proteins in the SHR VSMCs were deteced by immunofluorescence. The expression of the Cx43 and Cx40 proteins in SHR VSMCs were detected by Western blot. The molecular dye transfer method (scrape dye transfer method) was applied to detect the gap junction function in the SHR VSMCs.</p><p><b>RESULTS</b>(1) The Cx43 and Cx40 proteins expression in the SHR VSMCs were positive, confocal microscopy supported the co-localization of Cx43 and Cx40 in the cytoplasm. (2) The S value deteced by cell cycle and A value detected by MTT in the Hcy group were increased obviously compared with those in the control group (P < 0.05), decreased in 18alpha-GA group (P < 0.05). Compared with the Hcy group, the S and A value in the Hcy + 18alpha-GA group were significantly decreased, respectively (P < 0.05). (3) The expression of Cx43 and Cx40 proteins in Hcy group were increased compared with the control group (P < 0.05), decreased in 18alpha-GA group (P < 0.05). Compared with the Hcy group, the expression of Cx43 and Cx40 proteins in the Hcy + 18alpha-GA group were significantly decreased, respectively (P < 0.05). (4) The function of gap junction detected by scrape dye transfer method in the Hcy group were enhanced compared with the control group (P < 0.05), weakened in the 18alpha-GA group (P < 0.05). Compared with the Hcy group,the function of gap junction in the Hcy + 18alpha-GA group was significantly weakened (P < 0.05).</p><p><b>CONCLUSION</b>Hcy can enhance the function of gap junctional to stimulate the proliferation of SHR VSMCs through the expression of Cx43 and Cx40 proteins promoted.</p>
Assuntos
Animais , Ratos , Proliferação de Células , Células Cultivadas , Conexina 43 , Metabolismo , Conexinas , Metabolismo , Junções Comunicantes , Metabolismo , Ácido Glicirretínico , Farmacologia , Homocisteína , Farmacologia , Músculo Liso Vascular , Biologia Celular , Metabolismo , Miócitos de Músculo Liso , Biologia Celular , Metabolismo , Ratos Endogâmicos SHRRESUMO
<p><b>OBJECTIVE</b>To investigate if the interaction between TGF-beta1/Smad pathway and ERK pathway in vascular smooth muscle cells exists.</p><p><b>METHODS</b>The rat arota was removed. The primary VSMC were isolated and cultured in vitro, then the VSMC were divided into four groups: (1) control group, (2) (TGF-beta1 group, (3) ERK blocking agent group, (4) TGF-beta1 + ERK blocking agent group. The expression of Smad2/3, ERK1/2 proteins, the content of phosphorylated ERK1/2 and Smad2/3 proteins were detected by Western blot, and the expression of Smad2/3 mRNA was detected by reverse transcription-polymerase chain reaction(RT-PCR) .</p><p><b>RESULTS</b>(1) In contrast to control group, the content of phosphorylated Smad2/3 and phosphorylated ERK1/2 proteins in TGF-beta1 group was increased (P < 0.05), that in ERK blocking agent group was decreased (P < 0.05). There was no difference between control group and TGF-beta1 + ERK blocking agent group. Compared with TGF-beta1 group, the contents of phosphorylated Smad2/3 and phosphorylated ERK1/2 proteins in TGF-beta1 + ERK blocking agent group was decreased (P < 0.05). There was no difference in the expression of Smad2/3 and ERK1/2 proteins among different groups. (2) There were no differences in expression of Smad2 and Smad3 mRNA among different groups.</p><p><b>CONCLUSION</b>(1) TGF-beta1 can induce Smad2/3 proteins to be phosphorylated dependent on the activated ERK pathway. (2) ERK pathway does not effect the expression of Smad2/3 at the level of protein and mRNA.</p>
Assuntos
Animais , Feminino , Masculino , Ratos , Aorta , Biologia Celular , Células Cultivadas , Sistema de Sinalização das MAP Quinases , Fisiologia , Proteína Quinase 3 Ativada por Mitógeno , Metabolismo , Músculo Liso Vascular , Biologia Celular , Fisiologia , Miócitos de Músculo Liso , Fisiologia , Fosforilação , Ratos Wistar , Transdução de Sinais , Proteínas Smad , Metabolismo , Fisiologia , Fator de Crescimento Transformador beta1 , FisiologiaRESUMO
<p><b>OBJECTIVE</b>To summarize the experiences in the treatment of distal radius fracture by locking pi-shaped plate internal fixation.</p><p><b>METHODS</b>All the 32 cases (left 11, right 21) of unstable fractures of distal radius treated by locking pi plate fixation. Among them, 11 were male and 21 female with an average age of 36 years (range, from 23 to 67 years). There were 16 cases of type B, 9 type C1 and 7 type C2 according to AO classification. Autogeneic bone grafting was applied in 27 patients. All the 32 cases were followed up. The range of motion of the wrist joint and radiographic parameters including palmar inclination, radial length and ulnar variance were evaluated.</p><p><b>RESULTS</b>All the patients were followed up for 19 to 28 months postoperatively (mean 25 months). Anatomical reduction was achieved in all the cases. Delayed union or non-union was not observed. According to rating scale of Gartland-Werley, 25 cases got excellent results and 7 good. No complications such as loss of reduction, tendon rupture occurred.</p><p><b>CONCLUSION</b>Locking pi-shaped plate fixation is a reliable and effective method in the treatment of unstable fracture of distal radius.</p>