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.

Intrauterine transfusion for fetal hemolytic disease caused by erythrocyte alloimmunization: a retrospective study / 中华围产医学杂志

Objective To investigate the outcomes of fetuses with hemolytic anemia caused by red cell alloimmunization following intrauterine transfusion (IUT),and to analyze the influence of hydrops fetalis on IUT treatment.Methods A retrospective analysis was conducted on 70 fetuses,who were admitted to the Fetal Medicine Center,the First Affiliated Hospital of Sun Yat-sen University from January 2005 to May 2018,with hemolytic disease requiring IUT.Clinical data of the fetuses and the gravidas were collected and divided into hydrops group (17 cases) and non-hydrops group (53 cases) based on their conditions before IUT.Results of routine blood tests before and after the first IUT,gestational age at the first IUT,prognosis and outcomes of the fetuses were compared between two groups.t-test,rank-sum test,Chi-square test (or Fisher's exact test) and multivariant logistic regression analysis were used for data analysis.Results Totally,the 70 fetuses underwent 231 times of IUT.Compared with the non-hydrops group,the hydrops group had a significantly increased incidence of severe anemia [14/17 vs 47.2％ (25/53),x2=6.458,P=0.011],but decreased hemoglobin [(38.5 ± 21.4) vs (68.7± 19.3) g/L,t=5.471,P＜0.001] and hematocrit level [0.110 (0.044-0.246) vs 0.222 (0.077-0.299),Z=-4.390,P＜0.001] before the first IUT.After the IUT,the survival rate of the fetuses in hydrops group was significantly lower than that of the non-hydrops group [11/15 vs 94.3％ (50/53),P=0.038].There was no significant difference in gestational age at birth,birth weight,neonatal hemoglobin level at birth,the incidence of exchange transfusion,the number of blood transfusions required or the incidence of severe neonatal complication between the two groups (all P＞0.05).Logistic regression analysis indicated that the fetal hydrops was an independent risk factor for fetal survival (OR=12.8,95％CI:1.2-136.4,P=0.035).Conclusions Hydrops fetalis might reduce the survival rate of fetal hemolytic disease after 1UT.

Chromosomal uniparental disomy 16 and fetal intrauterine growth restriction.

BACKGROUND: There is a well-documented association between prenatally diagnosed chromosomal uniparental disomy and poor pregnancy outcome. METHODS AND RESULT: In this study, we identified an intrauterine growth restricted fetus carrying a maternal UPD 16 with segmental hetero- and isodisomy using the Affymetrix CytoScan HD SNP-array and the UPDtool. We also performed FISH to exclude trisomy mosaicism of chr.16. We then explored the genetic mechanisms of how imprinted genes cause clinical abnormalities. Additionally, we reviewed the mUPD16 literature, compared the clinical phenotypes of our patient with other reported cases, and assessed the loss of autosomal-recessive genes in the regions of homozygosity. CONCLUSIONS: Considering UPD mechanism of potential impact on the function of the placenta, the genetic composition of chromosome 16, and the information previous literature reports, we have reason to believe that UPD16 correlates with IUGR.

Detection of ESBL-producing clinical isolates of gram negative bacilli and their antibiotic resistance in Shantou / 中国基层医药

Objective To investigate the extended-spectrum beta-lactamases ( ESBLs) producing clinical isolates of gram negative bacilli and their antibiotic resistance in Shantou and to provide suggestions on empirical treatment against the bacteria.Methods A total of 1 445 strains of gram negative bacilli (895 strains of Escherichia coli and 550 strains of Klebsiella pneumonia) were collected and examined for the production of ESBLs and antibacterial susceptibility test by Vitek-2.Results There were 69.4% of escherichia coli and 33.6% of klebsiella pneumonia producing ESBLs.The resistance rate of the ESBLs-producing strains to penicillins,cephalosporins and monocyclic beta-lactam antibiotics were very high.The ESBLs-producing strains were multidrug resistant and the resistance rates were higher than that of the non-ESBLs-producing strains.Both ESBLs-producing and non-ESBLs-producing strains were susceptible to Imipenem.Conclusion The incidence of ESBLs-producing strains was high in gram negative bacilli in Shantou.The resistance rates of the ESBLs-producing strains were higher than that of the non-ESBLs-producing strains and they expressed multiple drug resistance phenotypes.Imipenem was the best drug in the treatment of infections caused by ESBLs-producing strains.

A clinical study on mild cognitive impairment in amyotrophic lateral sclerosis / 中华神经科杂志

Objective To explore the cognitive status of amyotrophic lateral sclerosis (ALS) patients, and to explore the involved cognitive domains, subtypes and risk factors of mild cognitive impairment in ALS ( ALS-MCI).Methods Twenty-nine cases of ALS and 58 healthy volunteers were included.The severity of the bulbar and spinal functions of the patients was evaluated by the Improved Norris Scale.According to the Diagnostic and Statistical Manual of Mental Disorders 4th Edition-Revised( DSM-Ⅳ-R) criteria of dementia, ALS cases were classified as demented and non-demented.For non-demented ALS cases, the common cognitive batteries evaluating mental state, verbal memory, executive, attentional and visuospatial abilities were performed.Hamilton Anxiety Scale ( HAMA) and Hamilton Depression Scale (HAMD) were evaluated too.They were further classified into ALS-cognitively normal (ALS-CogNL) and ALS-MCI groups according to Petersen criteria of MCI.Risk factors possibly correlated with ALS-MCI were analyzed by comparing the differences in age, age of onset, duration of the disease, sites of onset, symptoms of bulbar and limb function between ALS-CogNL and ALS-MCI groups.Results Among 29 ALS cases, 14 (48.3% ) cases with cognitively normal( ALS-CogNL), 15 cases (51.7% ) with ALS-MCI,and none with dementia were identified.Among 15 ALS-MCI cases, 12 cases with executive dysfunction, 8 cases with memory deficits,9 cases with attention impairment and none with visuospatial impairment were found.ALSMCI cases could be further classified into three subtypes; 1 case with amnestic MCI (aMCI) ,6 cases with single domain non-memory MCI ( sdMCI), and 8 cases with multiple domains slightly impaired MCI (mdMCI).Between ALS-MCI and ALS-CogNL groups, there were significant differences (t = -2.435,- 2.576, both P ＜ 0.05) in education ((8.7 ± 2.8) years vs (11.3 ± 3.0) years) and Improved Norrisscale (bulbar score: (28.4 ± 7.7) scores vs ( 34.0 ± 3.4) scores) , however, no significant differences in sex, age, age of onset, duration,site of onset,HAMA or HAMD scores,and Improved Norris scale( spinal score) were found.Conclusions Cognitive deficits commonly exist in ALS patients.For the involved domains, executive dysfunction is the most common, deficits of attention and memory are also common, and deficit in visuospatial function is not found.The most common subtype of ALS-MCI is mdMCI.Severe bulbar symptoms and lower education may be the risk factors of ALS-MCI.