Causal effect of atrial fibrillation on pulmonary embolism: a mendelian randomization study.

Atrial fibrillation (AF) can increase thrombosis, especially arterial thrombosis, and some studies show that AF patients have a higher risk of developing pulmonary embolism (PE). The objective of our study is to investigate whether there is a direct causal effect of AF on PE. A two-sample Mendelian randomization (MR) approach was utilized to determine whether there is a causal relationship between AF and PE. European population-based consortia provided statistical data on the associations between Single Nucleotide Polymorphisms (SNPs) and relevant traits. The AF dataset was obtained from genome-wide association studies (GWAS) comprising 60,620 cases and 970,216 controls, while a GWAS of 1846 cases and 461,164 controls identified genetic variations associated with PE. Estimation of the causal effect was mainly performed using the random effects inverse-variance weighted method (IVW). Additionally, other tests such as MR-Egger intercept, MR-PRESSO, Cochran's Q test, "Leave-one-out," and funnel plots were conducted to assess the extent of pleiotropy and heterogeneity. Using 70 SNPs, there was no evidence to suggest an association between genetically predicted AF and risk of PE with multiplicative random-effects IVW MR analysis (odds ratio = 1.0003, 95% confidence interval: 0.9998-1.0008, P = 0.20). A null association was also observed in other methods. MR-Egger regression and MR-PRESSO respectively showed no evidence of directional (intercept, - 2.25; P = 0.94) and horizontal(P-value in the global heterogeneity test = 0.99) pleiotropic effect across the genetic variants. No substantial evidence was found to support the causal role of AF in the development of PE.

Assessment of ForenSeq mtDNA Whole Genome Kit for forensic application.

Mitochondrial DNA (mtDNA) is an indispensable genetic marker in forensic genetics. The emergence and development of massively parallel sequencing (MPS) makes it possible to obtain complete mitochondrial genome sequences more quickly and accurately. The study evaluated the advantages and limitations of the ForenSeq mtDNA Whole Genome Kit in the practical application of forensic genetics by detecting human genomic DNA standards and thirty-three case samples. We used control DNA with different amount to determine sensitivity of the assay. Even when the input DNA is as low as 2.5 pg, most of the mitochondrial genome sequences could still be covered. For the detection of buccal swabs and aged case samples (bloodstains, bones, teeth), most samples could achieve complete coverage of mitochondrial genome. However, when ancient samples and hair samples without hair follicles were sequenced by the kit, it failed to obtain sequence information. In general, the ForenSeq mtDNA Whole Genome Kit has certain applicability to forensic low template and degradation samples, and these results provide the data basis for subsequent forensic applications of the assay. The overall detection process and subsequent analysis are easy to standardize, and it has certain application potential in forensic cases.

Establishment of a co-analysis system for personal identification and body fluid identification: a preliminary report.

Analysis of genetic markers can provide clues for case investigation. Short tandem repeat (STR) detection and analysis are widely used for both personal identification and parentage testing. However, DNA analysis currently cannot provide sufficient information for body fluid identification. Tissue or cell sources of samples can be identified by detecting body fluid-specific mRNA markers, which have been studied thoroughly. Integrating STR profiling and mRNA expression patterns can provide more information than conventional methods for investigations and the reconstruction of crime scenes; this can be achieved by DNA/RNA co-extraction technology, which is economical, efficient, and suitable for low-template samples. Here, we propose a co-analysis system based on the PowerPlex 16 kit. This system can simultaneously amplify 25 markers, including 15 STRs, one non-STR amelogenin, and nine mRNA markers (three blood-specific, two saliva-specific, two semen-specific, and two housekeeping gene markers). The specificity and sensitivity of the co-analysis system were determined and aged and degraded samples were used to validate the stability of the co-analysis system. Finally, different DNA/RNA ratios and various carriers were evaluated. The results showed that the DNA/RNA co-analysis system correctly identified different types of body fluid stains. The STR profiles obtained using the co-analysis system were identical to those obtained using the PP16 kit, which demonstrates that the mRNA primers used did not affect STR profiling. Complete STR and mRNA profiles could be obtained from 1/8 portions of buccal swabs, 1/16 portions of swabs of blood and semen samples, 0.1 cm2 of blood samples, 0.25 cm2 of semen samples, and 1.0 cm2 saliva samples. Additionally, our findings indicate that complete STR and mRNA profiles can be obtained with this system from blood and semen samples when the DNA/RNA ratio is 1:1/32. This study suggests that the co-analysis system could be used for simultaneous personal identification and body fluid identification.

[Measurement of the mesiobuccal root canal width and taper of maxillary first molars].

PURPUSE: To measure the root canal morphology of the maxillary first molars, to provide reference for clinical work. METHODS: Fifty maxillary first molars were collected and the mesiobuccal root canal taper was observed through production of transparent tooth. The mesiobuccal roots were dissected transversely from their apical foramen vertical to the long axis of the root and 0.4-mm-thick serial sections were made. Each section was observed with a stereomicroscope at 30× magnification to calculate the taper value of apical 1/3, middle third 1/3 and canal orifice 1/3. RESULTS: The width of MB1 root canal: maximum and minimum diameter of root apex was (0.38±0.12) mm and (0.34±0.16) mm, maximum and minimum diameter of root middle was (0.55±0.26) mm and (0.57±0.12) mm, maximum and minimum diameter of root collar was (1.13±0.34) mm and (0.59±0.18) mm. The width of MB2 root canal taper: maximum and minimum diameter of root apex was (0.25±0.13) mm and (0.28±0.10) mm, maximum and minimum diameter of root middle was (0.36±0.09) mm and (0.17±0.06) mm, maximum and minimum diameter of root collar was (0.79±0.23) mm and (0.23±0.17) mm. The taper of MB1 root canal: maximum and minimum diameter of root apical 1/3 was 0.03 and 0.01, maximum and minimum diameter of root middle 1/3 was 0.06 and 0.03, maximum and minimum diameter of root collar 1/3 was 0.10 and 0.09. The taper of MB2 root canal: maximum and minimum diameter of root apical 1/3 was 0.02 and - 0.01, maximum and minimum diameter of root middle 1/3 was 0.06 and 0.00, maximum and minimum diameter of root collar 1/3 was -0.02 and -0.02. CONCLUSIONS: MB1 has a larger width and taper, and root apical 1/3, middle 1/3, collar 1/3 have variable taper; While the width and taper of MB2 are small, and there will be upside down taper.