[Blood metabolites in preterm infants with retinopathy of prematurity based on tandem mass spectrometry: a preliminary study]. / åŸºäºŽè´¨è°±æŠ€æœ¯çš„æ—©äº§å„¿è§†ç½‘è†œç— è¡€ä»£è°¢äº§ç‰©çš„åˆæ­¥ç ”ç©¶.

OBJECTIVES: To study new biomarkers for the early diagnosis of retinopathy of prematurity (ROP) by analyzing the differences in blood metabolites based on liquid chromatography-tandem mass spectrometry (LC-MS/MS) and metabolomics. METHODS: Dried blood spots were collected from 21 infants with ROP (ROP group) and 21 infants without ROP (non-ROP group) who were hospitalized in the Sixth Affiliated Hospital of Sun Yat-sen University from January 2013 to December 2016. LC-MS/MS was used to measure the metabolites, and orthogonal partial least squares-discriminant analysis was used to search for differentially expressed metabolites and biomarkers. RESULTS: There was a significant difference in blood metabolic profiles between the ROP and non-ROP groups. The pattern recognition analysis, Score-plot, and weight analysis obtained 10 amino acids with a relatively large difference. Further statistical analysis showed that the ROP group had significant increases in blood levels of glutamic acid, leucine, aspartic acid, ornithine, and glycine compared with the non-ROP group (P<0.05). The receiver operating characteristic curve analysis showed that glutamic acid and ornithine had the highest value in diagnosing ROP. CONCLUSIONS: Blood metabolites in preterm infants with ROP are different from those without ROP. Glutamic acid and ornithine are the metabolic markers for diagnosing ROP. LC-MS/MS combined with metabolomics analysis has a potential application value in the early identification and diagnosis of ROP.

[Tatton-Brown-Rahman syndrome associated with the DNMT3A gene: a case report and literature review].

This article reports the clinical and genetic features of a case of Tatton-Brown-Rahman syndrome (TBRS) caused by DNMT3A gene mutation. A girl, aged 8 months and 14 days, had the clinical manifestations of psychomotor retardation, hypotonia, ventricular enlargement, and tonsillar hernia malformation. Gene analysis identified a novel heterozygous mutation, c.134C>T(p.A45V), in the DNMT3A gene, and the wild type was observed at this locus in her parents. This mutation was determined as a possible pathogenic mutation according to the guidelines of American College of Medical Genetics and Genomics, which had not been reported in previous studies and conformed to autosomal dominant inheritance. This child was diagnosed with TBRS. TBRS often has a good prognosis, with overgrowth and mental retardation as the most common clinical manifestations, and behavioral and psychiatric problems, scoliosis, and afebrile seizures are possible complications of TBRS. The possibility of TBRS should be considered for children with overgrowth and mental retardation, and genetic diagnosis should be conducted when necessary.

Expression profile of circular RNA in rat intimal hyperplasia and target gene prediction.

Intimal hyperplasia is an important cause of stenosis or occlusion after vascular injury. Circular RNAs (circRNAs) are known to be related to various cardiovascular diseases. However, the expression profile of circRNAs in the neointima has not been reported in detail. In this study, we established a rat common carotid artery (CCA) injury model. A microarray detection showed significant differences in circRNA expression between the normal and injured CCA. Real-time quantitative polymerase chain reaction verified the differences. We used bioinformatics to predict the microRNAs that possibly interact with the differentially expressed (DE) circRNAs and linked the potential functions of circRNAs to the target genes of the microRNAs. We believe that the DE circRNA in neointima may affect the differentiation, proliferation, and migration of vascular cells through a variety of target genes. The intervention or utilization of certain circRNAs should be a new method for preventing and treating intimal hyperplasia.

[Construction of a mouse model of cblC type methylmalonic acidemia with W203X mutation based on the CRISPR/Cas9 technology].

OBJECTIVE: To construct a W203X-mutant mouse model of cblC type methylmalonic acidemia based on the CRISPR/Cas9 technology. METHODS: At first, BLAST was used to compare the conservative nature of the cblC gene and protein sequences in humans and mice, and then, the CRISPR/Cas9 technology was used for microinjection of mouse fertilized eggs to obtain heterozygous F1 mice. Hybridization was performed for these mice to obtain homozygous W203X-mutant mice. The blood level of the metabolite propionyl carnitine (C3) was measured for homozygous mutant mice, heterozygous littermates, and wild-type mice. RESULTS: The gene and protein sequences of MMACHC, the pathogenic gene for cblC type methylmalonic acidemia, were highly conserved in humans and mice. The homozygous W203X-mutant mice were successfully obtained by the CRISPR/Cas9 technology, and there was a significant increase in C3 in these mice at 24 hours after birth (P<0.001). CONCLUSIONS: A W203X-mutant mouse model of cblC type methylmalonic acidemia is successfully constructed by the CRISPR/Cas9 technology.

Sex-dependent association of phosphodiesterase 4D gene polymorphisms with ischemic stroke in Henan Han population.

BACKGROUND: Recent evidence has implicated the gene for phosphodiesterase 4D (PDE4D) as susceptibility gene for ischemic stroke (IS) in Icelandic population. However, there are few reports on the associations between PDE4D gene polymorphisms and IS in Chinese individuals. The present study aimed to investigate the possible association of genetic polymorphisms in PDE4D gene with IS in Henan Han population. METHODS: A total of 400 patients with IS and 400 matched controls were examined using a case-control design. Two single nucleotide polymorphism (SNPs) (rs918592 and rs2910829) in PDE4D gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Odds ratios (OR) and 95% confidence intervals (95%CI) were calculated to test the association between the genetic factors and IS. Genetic parameter and association studies were carried out with SPSS 16.0. RESULTS: Among the two SNPs tested, the rs918592 was significantly associated with IS (OR: 1.351, 95%CI: 1.110 - 1.645), especially in male patients (OR: 1.427, 95%CI: 1.105 - 1.844). Haplotype analysis showed that A-T was associated with an increased risk of the IS (OR: 2.114, 95%CI: 2.005 - 2.230) while G-T was associated with decreased risk of IS (OR: 0.419, 95%CI: 0.302 - 0.583). Protecting effect of haplotype G-T was also significant in males (OR: 0.264, 95%CI: 0.162 - 0.431). CONCLUSIONS: The present study demonstrated a strong association of rs918592 with IS. Haplotype A-T increased the risk of IS while haplotype G-T had a protective effect in Henan Han population. The association was sex-dependent with male patients showing stronger effect.