Neglected intrapulmonary arteriovenous anastomoses: A comparative study of pulmonary right-to-left shunts in patients with patent foramen ovale

ObjectivePulmonary right-to-left shunt (P-RLS) and patent foramen ovale right-to-left shunt (PFO-RLS) often appear in combination, and there are often differences and connections between them. Intrapulmonary arteriovenous anastomoses (IPAVAs), as part of P-RLS, are often overlooked because there are no technologies to detect and identify them. This study aimed to further clarify the incidence and characteristics of P-RLS with the help of contrast transesophageal echocardiography (c-TEE) and contrast transthoracic echocardiography (c-TTE), providing a reference for clinically relevant research and patent foramen ovale (PFO) management disposal decisions.MethodsWe retrospectively investigated 414 subjects who came to our hospital for c-TEE from October 2021 to July 2022, and all subjects completed c-TTE simultaneously. 7 Patients who were newly diagnosed with an atrial septal defect were excluded. Eventually, 407 patients were included in this study. Among them, 157 patients with PFO (58 patients were treated with PFO closure subsequently) and 250 patients without PFO confirmed by c-TEE were finally enrolled. In the process, we observed and analysed the presence of P-RLS.ResultsA total of 407 patients were included in the final analysis and divided into PFO group (N = 157) and non-PFO group (N = 250) according to the results of c-TEE. Whether at rest or after Valsalva maneuver, the incidence of P-RLS was significantly higher under c-TEE than under c-TTE in the two groups (P < 0.001). For both c-TTE and c-TEE, the incidence of P-RLS was slightly higher after Valsalva maneuver than at rest, but the difference was not significant (c-TTE: rest vs. Valsalva maneuver, P = 0.214; c-TEE: rest vs. Valsalva maneuver, P = 0.076). The Valsalva maneuver increased the incidence of P-RLS in the group without PFO, which was more significant in c-TEE (c-TTE: rest vs. Valsalva maneuver, P = 0.591; c-TEE: rest vs. Valsalva maneuver, P = 0.008). In both groups, the P-RLS semiquantitative grading was statistical significance under different states and examinations (P < 0.001).ConclusionThe vast majority of P-RLS are grade 1–2 and are derived from physiological IPAVAs. Even so, attention should be given to the differentiation between P-RLS and PFO-RLS. c-TEE is an effective method to detect P-RLS; however, the recruitments of c-TEE and Valsalva maneuver to P-RLS should be noted

Complete Mitochondrial Genome Sequences of Chinese Indigenous Sheep with Different Tail Types and an Analysis of Phylogenetic Evolution in Domestic Sheep

China has a long history of sheep (Ovis aries [O. aries]) breeding and an abundance of sheep genetic resources. Knowledge of the complete O. aries mitogenome should facilitate the study of the evolutionary history of the species. Therefore, the complete mitogenome of O. aries was sequenced and annotated. In order to characterize the mitogenomes of 3 Chinese sheep breeds (Altay sheep [AL], Shandong large-tailed sheep [SD], and small-tailed Hulun Buir sheep [sHL]), 19 sets of primers were employed to amplify contiguous, overlapping segments of the complete mitochondrial DNA (mtDNA) sequence of each breed. The sizes of the complete mitochondrial genomes of the sHL, AL, and SD breeds were 16,617 bp, 16,613 bp, and 16,613 bp, respectively. The mitochondrial genomes were deposited in the GenBank database with accession numbers KP702285 (AL sheep), KP981378 (SD sheep), and KP981380 (sHL sheep) respectively. The organization of the 3 analyzed sheep mitochondrial genomes was similar, with each consisting of 22 tRNA genes, 2 rRNA genes (12S rRNA and 16S rRNA), 13 protein-coding genes, and 1 control region (D-loop). The NADH dehydrogenase subunit 6 (ND6) and 8 tRNA genes were encoded on the light strand, whereas the rest of the mitochondrial genes were encoded on the heavy strand. The nucleotide skewness of the coding strands of the 3 analyzed mitogenomes was biased toward A and T. We constructed a phylogenetic tree using the complete mitogenomes of each type of sheep to allow us to understand the genetic relationships between Chinese breeds of O. aries and those developed and utilized in other countries. Our findings provide important information regarding the O. aries mitogenome and the evolutionary history of O. aries inside and outside China. In addition, our results provide a foundation for further exploration of the taxonomic status of O. aries

Detection of Selection Signatures on the X Chromosome in Three Sheep Breeds

Artificial selection has played a critical role in animal breeding. Detection of artificial selection footprints in genomic regions can provide insights for understanding the function of specific phenotypic traits and better guide animal breeding. To more fully understand the relationship between genomic composition and phenotypic diversity arising from breed development, a genome-wide scan was conducted using an OvineSNP50 BeadChip and integrated haplotype score and fixation index analyses to detect selection signatures on the X chromosome in three sheep breeds. We identified 49, 34, and 55 candidate selection regions with lengths of 27.49, 16.47, and 25.42 Mb in German Mutton, Dorper, and Sunit sheep, respectively. Bioinformatics analysis showed that some of the genes in these regions with selection signatures, such as BMP15, were relevant to reproduction. We also identified some selection regions harboring genes that had human orthologs, including BKT, CENPI, GUCY2F, MSN, PCDH11X, PLP1, VSIG4, PAK3, WAS, PCDH19, PDHA1, and SRPX2. The VSIG4 and PCDH11X genes are associated with the immune system and disease, PDHA1 is associated with biosynthetic related pathways, and PCDH19 is expressed in the nervous system and skin. These genes may be useful as candidate genes for molecular breeding

Identification of MEF2B and TRHDE Gene Polymorphisms Related to Growth Traits in a New Ujumqin Sheep Population.

2 SNPs were discovered in our previous genome-wide association study (GWAS): s58995.1 (rs420767326 A>G) in MEF2B gene and OAR3_115712045.1 (rs401775061 A>C) in TRHDE gene, which were significantly associated with post-weaning gain in sheep. Herein, we performed a replication experiment to investigate single nucleotide polymorphisms (SNPs) within the MEF2B and TRHDE gene exons, the 5'untranslated regions (within 1000bp), the 3' untranslated regions (within 1000bp) and their associations with Ujumqin sheep growth traits in 4-month age and 6-month age, respectively. Finally,3 SNPs were selected to be investigated including 1 SNP in 3'untranslated regions in MEF2B gene (rs417014745 A>G) and 2 SNPs in TRHDE gene (rs426980328 T>C and rs430810656 G>A).The χ2 test showed all the 3 variations were in Hardy-Weinberg equilibrium (P>0.05) status. Association analysis suggested that rs426980328 T>C was significantly associated with body weight and chest girth in 4-month age (PA exhibited extremely significant association with body weight and chest girth in 4-month age (PG was extremely significantly associated with body weight and chest girth in 4-month age and chest girth in 6-month age (P<0.01), and it was also significantly associated with body weight in 6-month age (P<0.05). Combined effect analysis indicated significant associations between the combinations of rs426980328-rs417014745, rs430810656-rs417014745 and several growth traits (P<0.05). These results suggested MEF2B and TRHDE genes affected growth traits in Ujumqin sheep and the combination effect of the two genes also played a significant effective role. These SNPs might have potential value as genetic markers for growth traits and it could be used in Ujumqin sheep breeding in future. Further studies are necessary to confirm our findings

Data from: Selection signature analysis reveals genes associated with tail type in Chinese indigenous sheep

Fat-tailed sheep have commercial value because consumers prefer high-protein and low-fat food and producers care about feed conversion rate. However, fat-tailed sheep still have some scientific significance, as the fat tail is commonly regarded as a characteristic of environmental adaptability. Finding the candidate genes associated with fat tail formation is essential for breeding and conservation. To identify these candidate genes, we applied FST and hapFLK approaches in fat- and thin-tailed sheep with available 50K SNP genotype data. These two methods found 6.24 Mb of overlapped regions and 43 genes that may associated with fat tail development. Gene annotation showed that HOXA11, BMP2, PPP1CC, SP3, SP9, WDR92, PROKR1 and ETAA1 may play important roles in fat tail formation. These findings provide insight into tail fat development and a guide for molecular breeding and conservation

Associations of single marker of the genes with 4-month age growth traits.

<p>Data marked with the lower letters within the same rank mean significant difference (<i>P</i><0.05), different uppercase letters indicate extremely significant difference (<i>P</i><0.01).</p

Primer pairs used for scanning SNPs within sheep <i>MEF2B</i> and <i>TRHDE</i> gene.

<p>Primer pairs used for scanning SNPs within sheep <i>MEF2B</i> and <i>TRHDE</i> gene.</p