the-detection-5-hydroxymethylcytosine-neural-stem-cells-brains

The Detection of 5-Hydroxymethylcytosine in Neural Stem Cells and Brains of Mice

Multiple&#160;DNA modifications have been identified in the mammalian genome. Of that, 5-methylcytosine and 5-hydroxymethylcytosine-mediated epigenetic ...

DEFA1/DEFA3, genes encoding human neutrophil peptides (HNP) 1-3, display wide-ranging copy number variations (CNVs) and is functionally associated with innate immunity and infections. To identify potential associations between DEFA1/DEFA3 CNV and hospital-acquired infections (HAIs), we enrolled 106 patients with HAIs and 109 controls in the intensive care unit (ICU) and examined their DEFA1/DEFA3 CNVs. DEFA1/DEFA3 copy number ranged from 2 to 16 per diploid genome in all 215 critically ill patients, with a median of 7 copies. In HAIs, DEFA1/DEFA3 CNV varied from 2 to 12 with a median of 6, which was significantly lower than that in controls (2 to 16 with a median of 8,  = 0.017). Patients with lower DEFA1/DEFA3 copy number (CNV < 7) were far more common in HAIs than in controls (52.8% in HAIs versus 35.8% in controls;  = 0.014; OR, 2.010; 95% CI, 1.164-3.472). The area under the receiver operating characteristic (AUROC) of DEFA1/DEFA3 CNV combined with clinical characteristics to predict the incidence of HAIs was 0.763 (95% CI 0.700-0.827), showing strong predictive ability. Therefore, lower DEFA1/DEFA3 copy number contributes to higher susceptibility to HAIs in critically ill patients, and DEFA1/DEFA3 CNV is a significant hereditary factor for predicting HAIs.

Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with Susceptibility to Hospital-Acquired Infections in Critically Ill Patients.

To compare the efficacy of percutaneous atrial septal defect (ASD) closure guided by transesophageal echocardiography (TEE) or guided by fluoroscopy in pediatric patients.

[Efficacy of percutaneous atrial septal defect closure guided by transesophageal echocardiography in children].

To evaluate the application of cameral-type three-dimensional (3D) scan in the assessment of funnel chest.

[Application of cameral-type three-dimensional scan in assessment of funnel chest].

The aim of the study was to compare transesophageal echocardiography (TEE) and fluoroscopy for percutaneous atrial septal defect (ASD) closure.This was a retrospective analysis of children who underwent percutaneous ASD closure. The procedure was guided by TEE without fluoroscopy in 130 patients (TEE group) and by fluoroscopy in 163 patients (fluoroscopy group). Baseline demographic/clinical characteristics were recorded. Patients were followed until hospital discharge. Outcomes were procedure duration, peri/postoperative complications, hospital stay, and costs.The TEE and fluoroscopy groups showed no significant differences in age (71.7 ± 40.7 vs 62.5 ± 38.8 months), male/female ratio (54/76 vs 66/97), weight (22.0 ± 12.0 vs 20.1 ± 9.0 kg), ASD diameter (9.9 ± 4.2 vs 9.3 ± 3.9 cm), distances to the superior vena cava (13.4 ± 4.6 vs 13.3 ± 4.2 cm), inferior vena cava (13.4 ± 4.3 vs 13.9 ± 4.1 cm) and atrial septal roof (12.1 ± 4.0 vs 12.3 ± 3.2 cm), or atrial septal size (38.2 ± 6.2 vs 39.4 ± 26.6 cm); distance to the mitral valve was greater in the TEE group (13.2 ± 4.4 vs 11.3 ± 3.9 cm; P < .001). The TEE and fluoroscopy groups showed no significant differences in occlusion device size (14.3 ± 4.6 vs 13.8 ± 4.0 cm) or sheath size (8.7 ± 1.8 vs 8.7 ± 0.9 cm), but procedure duration was shorter in the TEE group (21.5 ± 14.6 vs 28.6 ± 10.9 minutes; P < .001). Postoperative fever (>38°C) occurred less frequently in the TEE group than in the fluoroscopy group (0.8% vs 9.2%; P < .001); there were no significant differences for the other complications. No patient had postoperative residual shunt, occlusion device shedding/displacement, or pericardial effusion. The TEE group had longer hospital stay (3.2 ± 0.6 vs 2.9 ± 0.6 days; P < .001) and higher procedure cost (29,687 ± 4218 vs 28,530 ± 1668 CNY (China Yuan); P = .002) than the fluoroscopy group.TEE-guided percutaneous ASD closure can be used as an alternative to fluoroscopy-guided procedures and avoids the use of radiation or contrast agents.

Transesophageal echocardiography and fluoroscopy for percutaneous closure of atrial septal defects: A comparative study.

Phenylalanine hydroxylase deficiency (PAHD), one of the genetic disorders resulting in hyperphenylalaninemia, has a complex phenotype with many variants and genotypes among different populations. Here, we describe the mutational and phenotypic spectrum of PAHD in a cohort of 420 patients from neonatal screening between 1999 and 2016. The observed phenotypes comprised 43.57% classic phenylketonuria, 33.10% mild PKU, and 23.33% mild hyperphenylalaninemia, with an overall PAHD incidence of 1 in 20,445. Genetic testing was performed for 209 patients and 72 variants including seven novel variants were identified. These included two synonymous and five pathogenic nonsynonymous variants (p.S36*, p.T186I, p.L255W, p.F302V and p.R413H). The most common variant among all patients was p.R243Q, followed by p.R241C, p.Y204C, p.R111* and c.442-1G > A. Variants p.R53H and p.F392I occurred only in MHP with 19.3% and 8.0% of the observed alleles respectively. The genotypes p.[R241C];[R243Q], p.[R243Q];[R243Q], and p.[Y204C];[R243Q] were abundant across all PAHD patients. The distributions of the null allele and the three defined genotypes, null/null, null/missense, and missense/missense, were significantly different between the cPKU and mPKU patients. However, no significant differences were found between mPKU and MHP patients, indicating that other modifier factors influence the phenotypic outcome in these patients. The data presented here will provide a valuable tool for improved genetic counseling and management of future cases of PAHD in China.

Article	Year
Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with Susceptibility to Hospital-Acquired Infections in Critically Ill Patients. Mediators of inflammation\| PubMed ID: 29950924	2018
[Efficacy of percutaneous atrial septal defect closure guided by transesophageal echocardiography in children]. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences\| PubMed ID: 30226323	2018
[Application of cameral-type three-dimensional scan in assessment of funnel chest]. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences\| PubMed ID: 30226331	2018
Transesophageal echocardiography and fluoroscopy for percutaneous closure of atrial septal defects: A comparative study. Medicine\| PubMed ID: 30412086	2018
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. Scientific reports\| PubMed ID: 30459323	2018

Weize Xu

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