[Chromosomal abnormalities in spontaneous miscarriage specimens detected by combinatorial probe anchor synthesis-based high-throughput low coverage whole genome sequencing].

Objective: To evaluate the application of combinatorial probe anchor synthesis (cPAS)-based high-throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage. Methods: From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ-500 high-throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results. Results: In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb). Conclusion: cPAS-based high-throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).

[Characteristics of renal cortical perfusion and its association with renal function among elderly patients with renal artery stenosis].

Objective: To evaluate the characteristics of renal cortical blood perfusion assessed by contrast-enhanced ultrasound (CEUS) in elderly patients with renal artery stenosis (RAS) and its relationship with renal function. Methods: Ninety-three elderly patients diagnosed with RAS, who were admitted in Beijing Hospital during June 2017 and December 2018, were retrospectively enrolled. According to the degree of RAS, 186 renal arteries were divided into normal renal artery group (n=79), mild RAS group (30% to 49%, n=59), moderate RAS group (50% to 70%, n=33), and severe RAS group (70% to 99%, n=15). Renal cortical blood perfusion and renal glomerular filtration rate (GFR) were measured by CEUS and radionuclide renal dynamic imaging. According to the renal GFR, 186 kidneys were divided into normal renal function group (GFR≥35 ml/min, n=42) and mild renal insufficiency group (35 ml/min>GFR≥25 ml/min, n=51), moderate renal insufficiency group (25 ml/min>GFR≥15 ml/min, n=75) and severe renal insufficiency group (GFR<15 ml/min, n=18). The renal cortical blood perfusion time-intensity curve (TIC) and related parameters were analyzed, including the area under the curve (AUC), the slope of the ascending branch (A), the peak intensity (PI), the peak time (TTP) and the mean transit time (MTT), the kidneys of different RAS groups and patients with different renal function groups were analyzed. Pearson correlation analysis was used to evaluate the correlation between renal cortical blood perfusion parameters and renal GFR. Results: (1) Renal cortical blood perfusion and GFR: CEUS showed that parameter A of TIC was significantly reduced, while TTP was prolonged in the mild renal artery stenosis group compared with the normal renal artery group (both P<0.05), GFP was similar between the two groups. Cortical perfusion parameters, such as AUC, A, PI and GFR were significantly lower, while TTP and MTT were significantly prolonged in the moderate and severe renal artery stenosis group than in the normal and mild stenosis groups (all P<0.05). Compared with the moderate stenosis group, AUC, A, PI and GFR were significantly lower while TTP, MTT were significantly prolonged in the severe renal artery stenosis group (all P<0.05). (2) TIC showed that the renal perfusion parameters, AUC, PI and A were significantly lower, while TTP was significantly longer in the mild renal dysfunction group than in the normal renal function group (all P<0.001). The changes aggravated in proportion with renal dysfunction. (3) Correlation between perfusion parameters and GFR: Pearson correlation analysis showed that the AUC (r=0.774, P<0.05), A (r=0.815, P<0.05) and PI (r=0.772, P<0.05) were positively correlated with GFR; serum creatinine level (r=-0.841, P<0.05), renal function grading (r=-0.731, P<0.05), TTP (r=-0.803, P<0.05) and MTT (r=-0.741, P<0.05) were negative correlated with GFR. The degree of stenosis was negatively correlated with GFR (r=-0.427, P<0.05). Conclusion: Cortical perfusion parameters differ significantly among patients with various degree of RAS and renal dysfunction. The renal cortical blood perfusion parameters are correlated with renal GFR.

Efficacy and Safety of Indigo Naturalis in Combination with Narrow-Band Ultraviolet B for Treatment of Pityriasis Rosea: A Meta-Analysis.

Pityriasis rosea (PR), a skin rash, causes substantial discomfort in patients. There is a lack of effective therapies for PR. A combination of ultraviolet irradiation and indigo naturalis treatment has been shown to be a safe and effective regime for control of PR; however, the data have been largely inconsistent. Tis meta-analysis further evaluated the efficacy and safety of this combination in patients with PR. The PubMed, Embase, Cochrane Library, CNKI, VIP, and Wan Fang databases were searched for relevant RCTs of this combination therapy in patients with PR. A total of eight studies with a combined study population of 688 patients published between January 2006 and March 2016 were eligible for this meta-analysis. The RevMan 5.3 software was used for the meta-analysis. The regimen of compound indigo naturalis plus NB-UVB showed much better control of PR as compared to that achieved with use of compound indigo naturalis or NB-UVB alone in terms of cure rate or effective rate. However, no significant difference was observed between the two with respect to incidence of adverse effects. The analysis was affected by publication bias as revealed by funnel plot analysis. Further studies with large sample sizes are required to confirm our findings.

Identification of significantly different modules between permanent and deciduous teeth by network and pathway analyses.

The differences in genetic backgrounds between deciduous and permanent teeth might contribute to the differences in developmental processes, histological characteristics, and tooth life cycles. Here, we attempted to identify significantly different modules between permanent and deciduous teeth via network and pathway analyses. We identified 291 differentially expressed genes (DEGs) between permanent and deciduous teeth using significance analysis of microarray methods. Co-expression networks of DEGs were constructed by weighted gene co-expression network analysis (WGCNA). Three pathways with a significant number of DEGs and P value <0.01 were identified. Integrated co-expression network and pathway (pathway and adjacent gene) analyses were used to extract three pathway-related modules: the calcium signaling pathway-related, ECM-receptor interaction pathway-related, and neuroactive ligand-receptor interaction pathway-related modules. We also attempted to analyze the topological centralities (degree, closeness, stress, and betweenness) of co-expression networks and modules. Four genes (TMEM229A, PPAPDC1A, LEPREL1, and GAD1) and three pathway-related modules that were significantly different in the deciduous and permanent teeth showed similar properties and good centralities. The relative expression levels of key genes were validated, and the differential expression of TMEM229A, LEPREL1, and GAD1 was confirmed by reverse transcription-polymerase chain reaction (P < 0.05). In conclusion, the results of this study may provide a greater understanding of the molecular pathogenesis and potential biomarkers of the progression from deciduous to permanent teeth.

High-pitch spiral CT with 3D reformation: an alternative choice for imaging vascular anomalies with affluent blood flow in the head and neck of infants and children.

OBJECTIVE: To evaluate the feasibility of high-pitch spiral CT in imaging vascular anomalies (VAs) with affluent blood flow in the head and neck of infants and children. METHODS: For patients with suspected VAs and affluent blood flow pre-detected by ultrasound, CT was performed with high-pitch mode, individualized low-dose scan protocol and three-dimensional (3D) reformation. A five-point scale was used for image quality evaluation. Diagnostic accuracy was calculated with clinical diagnosis with/without pathological results as the reference standard. Radiation exposure and single-phase scan time were recorded. Treatment strategies were formulated based on CT images and results and were monitored through follow-up results. RESULTS: 20 lesions were identified in 15 patients (median age of 11 months). The mean score of image quality was 4.13 ± 0.74. 7 patients (7/15, 46.67%) were diagnosed with haemangiomas, 6 patients (6/15, 40%) were diagnosed with venous malformations and 2 patients (2/15, 13.33%) were diagnosed with arteriovenous malformations. The average effective radiation doses of a single phase and of the total procedure were 0.27 ± 0.08 and 0.86 ± 0.21 mSv. The average scanning time of a single phase was 0.46 ± 0.09 s. After treatment, 13 patients (13/15, 86.67%) achieved excellent results, and 2 patients (2/15, 13.33%) showed good results in follow-up visits. CONCLUSION: High-pitch spiral CT with an individualized low-dose scan protocol and 3D reformation is an effective modality for imaging VAs with affluent blood flow in the head and neck of infants and children when vascular details are needed and ultrasound and MRI could not provide the complete information. ADVANCES IN KNOWLEDGE: This study proposes an alternative modality for imaging VAs with affluent blood flow.

Effect of pioglitazone combined with simvastatin on the CD40-CD40 ligand system in rabbits with atherosclerosis.

OBJECTIVE: This paper aims to investigate the interaction mechanism between pioglitazone/simvastatin and the CD40-CD40 ligand (CD40-CD40L) system and to determine their interaction effects on atherosclerosis in rabbits. MATERIALS AND METHODS: Forty rabbits were randomly divided into five groups of eight: normal control, hyperlipidemia model, pioglitazone, simvastatin, and pioglitazone combined with simvastatin therapy. The rabbits were raised for 16 weeks. Blood samples and the aortic length were taken after 16 weeks with the following indicators: (1) blood lipid measurement [total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C)] were measured; (2) measurement of serum high-sensitivity C-reactive protein (hsCRP), soluble vascular cell adhesion molecule-1 (sVCAM-1), soluble intercellular adhesion molecule-1 (sICAM-1), soluble CD40 ligand (sCD40L), and matrix metallopeptidase-9 (MMP-9) by enzyme-linked immunosorbent assay; (3) aortic pathological observation and measurement of the area ratios for plaque/intimal; and (4) expression determination of CD40L in plaque parts by immunohistochemistry. RESULTS: In the treatment groups, the levels of TC, TG, LDL-C, hsCRP, sVCAM-1, sICAM-1, sCD40L, and MMP-9 increased, and HDL-C level, plaque/intimal area ratio, and CD40 expression in the plaque parts decreased. Improved effects were also found in the combination treatment group. CONCLUSIONS: Pioglitazone and simvastatin may inhibit different functions, such as inflammatory response and lipid regulation, by inhibiting the CD40-CD40L signaling pathway to suppress the formation of atherosclerosis. Therefore, the combined application of pioglitazone and simvastatin has synergistic effects.

[Effect of Gardenia jasminoides Ellis (GJE) on the blood flow of internal organs at the early stage of acute necrotizing hemorrhagic pancreatitis in rats].

Effect of GJE on the prevention and treatment of experimental acute pancreatitis was observed by means of testing pancreatic, hepatic, gastric and intestinal blood flow. The results show that the blood flow of internal organs that decreases significantly at the early stage of acute necrotizing hemorrhagic pancreatitis in rats can be picked up by GJE especially pancreatic.

Reliability and accuracy of measurement of transductal gradient by Doppler ultrasound.

Simultaneous continuous wave Doppler echocardiography, aortic and pulmonary artery pressure measurements were performed during cardiac catheterization in 46 patients with patent ductus arteriosus. Doppler-derived systolic, mean and diastolic transductal gradients correlated well with those measured by catheterization, respectively (r = 0.972, SEE = 6.8 mmHg; r = 0.965, SEE = 5.4 mmHg; r = 0.939, SEE = 6.2 mmHg), and there were clinically acceptable agreements between the two technical measurements. It is concluded that Doppler echocardiography is a reliable and accurate technique for noninvasive estimation of transductal gradients.