Effect of MSX1 on the cellular function of cardiomyocytes.

MSX1 (Muscle Segment Homeobox 1) has pleiotropic effects in various tissues, including cardiomyocytes, while the effect of MSX1 on cardiomyocyte cellular function was not well known. In this study, we used AC16 cell culture, real-time fluorescence quantitative PCR (qPCR), protein blotting (Western blot), flow cytometry apoptosis assay and lactate dehydrogenase (LDH) ELISA (Enzyme-Linked Immunosorbnent Assay) to investigate the effect of the MSX1 gene on cardiomyocyte function. The results showed that MSX1 plays a protective role against hypoxia of cardiomyocytes. However, further studies are required to fully understand the role of MSX1 in the regulation of LDH expression in different cell types and under different conditions.

The use of high-resolution SNP arrays to detect congenital cardiac defects.

OBJECTIVE: Copy number variations (CNVs) detected by high-resolution single nucleotide polymorphism microarrays (SNP arrays) have been associated with congenital heart defects (CHDs). The genetic mechanism underlying the development of CHDs remains unclear. METHODS: High-resolution SNP arrays were used to detect CNVs and traditional chromosomal analyses, respectively, were carried out on 60 and 249 fetuses from gestational 12-37 weeks old, having isolated or complex CHDs that were diagnosed using prenatal ultrasound. RESULTS: Twenty of the 60 fetuses (33.5%) had abnormalities, of which 23 CNVs (12 pathogenic, five probable pathogenic and six of undetermined significance) were detected by SNP arrays, and two distinct CNVs were present in three of these fetuses. In addition, in 39 patients with isolated congenital heart disease who had normal karyotypes, abnormal CNVs were present in 28.2% (11/39), and in patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. In patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. CONCLUSIONS: In conclusion, genome-wide high-resolution SNP array can improve the diagnostic rate and uncover additional pathogenic CNVs. The submicroscopic deletions and duplications of Online Mendelian Inheritance in Man (OMIM) genes found in this study have haploinsufficient (deletion) or triplosensitive (duplication) traits, which further clarify the etiology and inheritance of CHDs.

Indirect ultrasonic signs of the callosal partial agenesis and hypoplasia in the fetus / 实用医学杂志

Objective To investigate antenatal sonographic findings of the fetal isolated callosal hypoplasia and partial agenesis. Methods A retrospective study was performed on the cases of hypoplasia and partial agenesis of the corpus callosum suspected at antenatal sonographic basic examination from 2006 to 2014, all the cases were confirmed by pathology or magnetic resonance imaging(MRI). For the surviving infants, clinical follow-up had been performed to assess the developmental outcome. Results Thirteen fetuses suspected with callosal underdevelopment were identified at a median gestational age of 31 (range, 18~39) weeks. Ten cases were confirmed by autopsy and MRI, including 9 with partial agenesis and 1 with hypoplasia. Among the 10 fetuses confirmed with isolated partial agenesis or with hypoplasia, incidence of the absent cavum septum pellucidum was 20%, the ‘Tear-drop’ lateral ventricles was 40%, the upward displacement of the third ventricle was 80%. Pregnancy was terminated electively in 8 of the cases with partial agenesis or with hypoplasia. Among the 2 surviving infants, apparent normal development was observed in only one case, but we lost the follow-up of this case at two-year-old. Six fetuses received the chromosome identification, almost all of them were normal. Conclusion The basic ultrasonic examination is feasible for the antenatal diagnosis of isolated callosal underdevelopment the. The indirect classical signs of callosal partial agenesis and hypoplasia are different with those of complete agenesis of the corpus callosum. The incidences of the‘Tear-drop’ lateral ventricles and the upward displacement of the third ventricle are higher than the absence of CSP. The chromosome of isolated callosal partial agenesis or hypoplasia is normal, however, the prognosis is uncertain.

The expression of Nrf2 in the sepsis-affected rats′livers and the intervention effects of curcumin / 重庆医学

Objective To investigate the possible mechanism of Nrf2 in sepsis development and its effect in the septic acute liver injury ,and derive the effect of curcumin on Nrf2 expression ,which provide theoretical basis for clinical prevention and treatment of sepsis .Methods Divided putting 72 male Sprague-Dawley rats into 3 groups:control group ,experimental group and intervention group .After operation ,3 groups were further divided into subgroups 6 hours later ,12 hours later ,24 hours later and 48 hours later respectively .The septic rats model with acute liver injury was reproduced by method of cecal ligation and puncture (CLP) .The ex-perimental group and the intervention group took CLP .The rats in the intervention group were rejected with curcumin in the abdo-men at a dosage of 100 mg/kg an hour after operation .Detected the expression of Nrf2 in the livers of each group used Western blot and measure alanine aminotransferase(ALT ) in serum by drawing the rats′heart blood ;observed the pathological changes in the liver with HE coloration .Results ALT :the values of ALT in the experimental group was significantly increased compared with the control group(P<0 .05);while in the intervention group ,it was markedly improved compared with the experimental group (P<0 . 05) .The expression of Nrf2 :Nrf2 exists in control group rat′s hepatic tissue .In the experimental group ,it was progressively in-creased since the 6 h time point and decreased after the 12 h time point which shown significant decreased compared with the control group(P<0 .05) .In the intervention group ,it was gradually increased since the 6 h time point and decreased after the 24 h time point which was obviously higher than the experimental group(P<0 .05) .Pathological changes :There was no obvious abnormalities in the control group rats′liver structure ,while a lot of inflammatory cells gather and liver cells swell in the experimental group .It was obvious improved after curcumin intervention .Conclusion As Nrf2 is generally lower in the experimental group than in the comparative group ,it shows that Nrf2 directly participates in the occurrence and development of sepsis ,while severe infection blow damages the endogenou s protection system .Decreased activity of Nrf2 causes ignificantly inhibition of anti-oxidative stress and nat-ural immune response ,which may exacerbate acute liver injury by oxidative stress in sepsis .In case of sepsis ,curcumin may increase the level of Nrf2 and the antioxidant enzyme′s activity in the hepatic tissues ,enhancing the general antioxidant ability and alleviating the oxidative stress which points out that curcumin prevents the septic acute liver injury .