Induction of autism-related behavior in male mice by early-life vitamin D deficiency: association with disruption of the gut microbial composition and homeostasis.

Vitamin D deficiency (VDD) during early life emerges as a potential risk factor for autism spectrum disorder (ASD). Individuals with autism commonly exhibit lower vitamin D (VD) levels compared to the general population, and VD deficiency is prevalent during pregnancy and lactation. Moreover, gastrointestinal comorbidity, prevalent in ASD patients, correlates closely with disruptions in the gut microbiota and altered intestinal permeability. Therefore, it is fascinating and significant to explore the effects of maternal VD deficiency during pregnancy and lactation on the maturation of the gut microbiota of the offspring and its relevance to autism spectrum disorders. In this study, we established maternal pregnancy and lactation VD-deficient mouse models, employed shotgun macrogenomic sequencing to unveil alterations in the gut microbiome of offspring mice, and observed autism-related behaviours. Furthermore, fecal microbial transplantation (FMT) reversed repetitive and anxious behaviours and alleviated social deficits in offspring mice by modulating the gut microbiota and increasing short-chain fatty acid levels in the cecum, along with influencing the concentrations of claudin-1 and occludin in the colon. Our findings confirm that VDD during pregnancy and lactation is a risk factor for autism in the offspring, with disturbances in the structure and function of the offspring's gut microbiota contributing at least part of the effect. The study emphasises the importance of nutrition and gut health early in life. Simultaneously, this study further demonstrates the effect of VDD on ASD and provides potential ideas for early prevention and intervention of ASD.

The role and impact of abnormal vitamin levels in autism spectrum disorders.

The prevalence of autism spectrum disorder (ASD), a neurodevelopmental disorder with a predominance of social behavioral disorders, has increased dramatically in various countries in recent decades. The interplay between genetic and environmental factors is believed to underlie ASD pathogenesis. Recent analyses have shown that abnormal vitamin levels in early life are associated with an increased risk of autism. As essential substances for growth and development, vitamins have been shown to have significant benefits for the nervous and immune systems. However, it is unknown whether certain vitamin types influence the emergence or manifestation of ASD symptoms. Several studies have focused on vitamin levels in children with autism, and neurotypical children have provided different insights into the types of vitamins and their intake. Here, we review the mechanisms and significance of several vitamins (A, B, C, D, E, and K) that are closely associated with the development of ASD in order to prevent, mitigate, and treat ASD. Efforts have been made to discover and develop new indicators for nutritional assessment of children with ASD to play a greater role in the early detection of ASD and therapeutic remission after diagnosis.

InDel and CNV within the AKAP13 Gene Revealing Strong Associations with Growth Traits in Goat.

A-kinase-anchoring protein 13 (AKAP13) is a member of the AKAP protein family that has been found to be associated with bone formation. Thus, we investigated the AKAP13 gene as a potential candidate gene for molecular-marker-assisted selection (MAS) in breeding. Our aim was to explore genetic variations (InDel and CNV) within the AKAP13 gene of Shaanbei white cashmere (SBWC) goats and analyze their relationship with growth traits. Ultimately, we identified three InDel loci (16-bp deletion, 15-bp insertion, and 25-bp deletion) and three CNVs, and the 16-bp and 15-bp loci were significantly associated with goat body length (p < 0.05). Both the 16-bp deletion variant and the 15-bp insertion variant facilitated an increase in body length in goats. In addition to this, there was a certain superposition effect between 16-bp and 15-bp loci, although there was no linkage. Additionally, the CNV1 locus was significantly correlated with body height and body length of goats (p < 0.05), and CNV2 was significantly correlated with chest depth, chest circumference, and cannon circumference of goats (p < 0.05). Individuals with gain type showed excellent growth performance. In conclusion, the InDel and CNV loci that we have identified could possibly serve as effective molecular markers in goat breeding, which is very essential for improving efficiency and success of breeding. Moreover, our findings provide a new avenue for further research into the function of the AKAP13 gene.

GSDME in Endothelial Cells: Inducing Vascular Inflammation and Atherosclerosis via Mitochondrial Damage and STING Pathway Activation.

The initiation of atherosclerotic plaque is characterized by endothelial cell inflammation. In light of gasdermin E's (GSDME) role in pyroptosis and inflammation, this study elucidates its function in atherosclerosis onset. Employing Gsdme- and apolipoprotein E-deficient (Gsdme-/-/ApoE-/-) and ApoE-/- mice, an atherosclerosis model was created on a Western diet (WD). In vitro examinations with human umbilical vein endothelial cells (HUVECs) included oxidized low-density lipoprotein (ox-LDL) exposure. To explore the downstream mechanisms linked to GSDME, we utilized an agonist targeting the stimulator of the interferon genes (STING) pathway. The results showed significant GSDME activation in ApoE-/- mice arterial tissues, corresponding with atherogenesis. Gsdme-/-/ApoE-/- mice displayed fewer plaques and decreased vascular inflammation. Meanwhile, GSDME's presence was confirmed in endothelial cells. GSDME inhibition reduced the endothelial inflammation induced by ox-LDL. GSDME was linked to mitochondrial damage in endothelial cells, leading to an increase in cytoplasmic double-stranded DNA (dsDNA). Notably, STING activation partially offset the effects of GSDME inhibition in both in vivo and in vitro settings. Our findings underscore the pivotal role of GSDME in endothelial cells during atherogenesis and vascular inflammation, highlighting its influence on mitochondrial damage and the STING pathway, suggesting a potential therapeutic target for vascular pathologies.

Detection distribution of CNVs of SNX29 in three goat breeds and their associations with growth traits.

As a member of the SNX family, the goat sorting nexin 29 (SNX29) is initially identified as a myogenesis gene. Therefore, this study aimed to examine the polymorphism in the SNX29 gene and its association with growth traits. In this study, we used an online platform to predict the structures of the SNX29 protein and used quantitative real-time PCR to detect potential copy number variation (CNV) in Shaanbei white cashmere (SBWC) goats (n = 541), Guizhou black (GB) goats (n = 48), and Nubian (NB) goats (n = 39). The results showed that goat SNX29 protein belonged to non-secretory protein. Then, five CNVs were detected, and their association with growth traits was analyzed. In SBWC goats, CNV1, CNV3, CNV4, and CNV5 were associated with chest width and body length (P < 0.05). Among them, the CNV1 individuals with gain and loss genotypes were superior to those individuals with a median genotype, but CNV4 and CNV5 of individuals with the median genotype were superior to those with the loss and gain genotypes. In addition, individuals with the gain genotype had superior growth traits in CNV3. In brief, this study suggests that the CNV of SNX29 can be used as a molecular marker in goat breeding.

WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis.

The WD40-repeat containing (WDR) proteins are enriched in the testis and play important roles in spermatogenesis. In the present study, we investigate the expression profile of WDR38, a novel member of the WDR protein family, in humans and mice. RT-qPCR (reverse transcription-quantitative polymerase chain reaction) results demonstrate that WDR38 mRNA is abundantly expressed in both the human and mouse testis. The expression of mouse Wdr38 is strictly regulated during development. Further immunofluorescence staining results show that WDR38 is located in the equatorial segment of the acrosome in human and mouse mature spermatozoa and is involved in acrosome biogenesis. Subcellular localization analysis reveals that the mouse Wdr38 protein is distributed in the perinuclear cytoplasm of transfected cells and colocalizes with the GTPase protein Rab19 and Golgi protein GM130. Coimmunoprecipitation (co-IP) assays demonstrate that Wdr38, Rab19 and GM130 interact with each other in the mouse testis and in HEK293T cells. In acrosome biogenesis, Wdr38, Rab19 and GM130 aggregate at the nuclear membrane to form large vesicles, and GM130 then detaches and moves towards the caudal region of the nucleus, whereas the Wdr38/Rab19 complex spreads along the dorsal nuclear edge and finally docks to the equatorial segment. These results indicate that WDR38 is a novel equatorial segment protein that interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis.

Goat Pleomorphic Adenoma Gene 1 (PLAG1): mRNA Expression, CNV Detection and Associations with Growth Traits.

The pleomorphic adenoma gene 1 (PLAG1) gene, as the major gene responsible for growth, plays a vital role in myogenesis. Meanwhile, the relationship between copy number variation (CNV) of this gene and growth traits in goats remains unclear. Therefore, this study investigated four aspects: bioinformatics analysis, mRNA expression (n = 6), CNV detection (n = 224), and association analysis. The findings indicated that the gene had a large number of conserved motifs, and the gene expression level was higher in fetal goats than in adult goats. Three CNV loci were selected from the database, among which CNV1 was located in the bidirectional promoter region and was associated with goat growth traits. CNV analysis showed that CNV2 and CNV3 of the PLAG1 gene were associated with growth traits such as body weight, heart girth, height at hip cross, and hip width (p < 0.05), with CNV1 loss genotype being the superior genotype, and CNV2 and CNV3 median and gain genotypes of being superior genotypes. This finding further confirms that the PLAG1 gene is the dominant gene for growth traits, which will serve as theoretical guidance for goat breeding.

Gestational folic acid supplement prevents vitamin D deficiency-induced depression-like behavior by reversing cortical DNA hypomethylation in adult offspring.

Depression is a common mental disorder with an increasing incidence. Several studies have demonstrated that cortical DNA hypomethylation is associated with depression-like behaviors. This study aims to investigate whether maternal vitamin D deficiency (VDD) induces depression-like behaviors and to explore the effects of folic acid supplement on VDD-induced cortical DNA hypomethylation in adult offspring. Female mice were fed with a VDD diet, beginning at 5 weeks of age and throughout pregnancy. Depression-like behaviors were evaluated, and cortical 5-methylcytosine (5mC) content was detected in adult offspring. Results showed that depression-like behaviors were observed in adult offspring of the VDD group. Cortical Ache and Oxtr mRNAs were upregulated in female offspring of the VDD group. Cortical Cpt1a and Htr1b mRNAs were increased in male offspring of the VDD group. Moreover, cortical 5mC content was reduced in offspring of VDD-fed dams. The additional experiment showed that serum folate and cortical S-adenosylmethionine (SAM) contents were decreased in the offspring of the VDD group. Folic acid supplement attenuated VDD-induced SAM depletion and reversed cortical DNA methylation. Moreover, folic acid supplement attenuated VDD-induced upregulation of depression-related genes. In addition, folic acid supplement alleviated maternal VDD-induced depression-like behaviors in adult offspring. These results suggest that maternal VDD induces depression-like behavior in adult offspring by reducing cortical DNA methylation. The gestational folic acid supplement prevents VDD-induced depression-like behavior by reversing cortical DNA hypomethylation in adult offspring.

eHealth-Based Psychosocial Interventions for Adults With Insomnia: Systematic Review and Meta-analysis of Randomized Controlled Trials.

BACKGROUND: Worldwide, insomnia remains a highly prevalent public health problem. eHealth presents a novel opportunity to deliver effective, accessible, and affordable insomnia treatments on a population-wide scale. However, there is no quantitative integration of evidence regarding the effectiveness of eHealth-based psychosocial interventions on insomnia. OBJECTIVE: We aimed to evaluate the effectiveness of eHealth-based psychosocial interventions for insomnia and investigate the influence of specific study characteristics and intervention features on these effects. METHODS: We searched PubMed, Embase, Web of Science, PsycINFO, and the Cochrane Central Register of Controlled Trials from database inception to February 16, 2021, for publications investigating eHealth-based psychosocial interventions targeting insomnia and updated the search of PubMed to December 6, 2021. We also screened gray literature for unpublished data. Eligible studies were randomized controlled trials of eHealth-based psychosocial interventions targeting adults with insomnia. Random-effects meta-analysis models were used to assess primary and secondary outcomes. Primary outcomes were insomnia severity and sleep quality. Meta-analyses were performed by pooling the effects of eHealth-based psychosocial interventions on insomnia compared with inactive and in-person conditions. We performed subgroup analyses and metaregressions to explore specific factors that affected the effectiveness. Secondary outcomes included sleep diary parameters and mental health-related outcomes. RESULTS: Of the 19,980 identified records, 37 randomized controlled trials (13,227 participants) were included. eHealth-based psychosocial interventions significantly reduced insomnia severity (Hedges g=-1.01, 95% CI -1.12 to -0.89; P<.001) and improved sleep quality (Hedges g=-0.58, 95% CI -0.75 to -0.41; P<.001) compared with inactive control conditions, with no evidence of publication bias. We found no significant difference compared with in-person treatment in alleviating insomnia severity (Hedges g=0.41, 95% CI -0.02 to 0.85; P=.06) and a significant advantage for in-person treatment in enhancing sleep quality (Hedges g=0.56, 95% CI 0.24-0.88; P<.001). eHealth-based psychosocial interventions had significantly larger effects (P=.01) on alleviating insomnia severity in clinical samples than in subclinical samples. eHealth-based psychosocial interventions that incorporated guidance from trained therapists had a significantly greater effect on insomnia severity (P=.05) and sleep quality (P=.02) than those with guidance from animated therapists or no guidance. Higher baseline insomnia severity and longer intervention duration were associated with a larger reduction in insomnia severity (P=.004). eHealth-based psychosocial interventions significantly improved each secondary outcome. CONCLUSIONS: eHealth interventions for insomnia are effective in improving sleep and mental health and can be considered a promising treatment for insomnia. Our findings support the wider dissemination of eHealth interventions and their further promotion in a stepped-care model. Offering blended care could improve treatment effectiveness. Future research needs to elucidate which specific intervention components are most important to achieve intervention effectiveness. Blended eHealth interventions may be tailored to benefit people with low socioeconomic status, limited access to health care, or lack of eHealth literacy.

Social and paternal female choice for male MHC genes in golden snub-nosed monkeys (Rhinopithecus roxellana).

Genes of the major histocompatibility complex (MHC) play important roles in vertebrate immunocompetence. MHC genes thus offer females indirect benefits to mate choice through the production of offspring of an optimal MHC genotype. Females may choose males with specific MHC haplotypes, dissimilar MHC genotypes, MHC heterozygous males or MHC-diverse males. We tested these four alternatives for both female social and paternal choice in wild golden snub-nosed monkeys (Rhinopithecus roxellana) by examining overall genetic variability (via microsatellites) and four MHC-genes (DRB1, DRB2, DQA1 and DQB1). Monte Carlo randomization tests showed that MHC dissimilarity was favoured for social choice (males to which females were socially affiliated) and intermediate MHC dissimilarity was favoured in paternal choice (fathers of offspring). No evidence of inbreeding avoidance was found for either social or paternal mates. We found that MHC heterozygotes, higher microsatellite multilocus heterozygosity and higher microsatellites diversity were favoured for social mates, and higher microsatellite diversity was favoured for paternal mates. Independent of male age, we found that the formation of male-female social pairings is significantly predicted by compatibility based on the sharing of MHC haplotypes. However, we found no evidence of independent genetic effects on the duration of male-female social pairings, male social status (achieving OMU leader male status or not), the number of females with which individual leader males paired, the likelihood of potential male-female pairings producing offspring, or whether males fathered offspring or not. Overall, our findings suggest different genetic factors are involved in social and paternal choice in R. roxellana.

Investigation of the association between goat DNMT3B gene polymorphism and growth traits.

The DNA methyltransferase 3 beta (DNMT3B) gene is key for DNA methylation and has been well recognized in regulating growth and development. A previous observation indicated that an 11-bp indel of DNMT3B affected the reproductive traits in goats, yet the effect of this polymorphism on body measurement traits in goats has not been reported. This study aims to investigate the associations between DNMT3B gene polymorphism and goat growth traits. We investigated this 11-bp indel in 2184 goats and three genotypes have been found in Shaanbei white cashmere goat (SBWC): insertion/insertion (II), deletion/deletion (DD) and insertion/deletion (ID). Only ID and DD genotypes were detected in Nubian goats and Guizhou heima goat (GZHM). The allele frequencies analyzed revealed that the 'D' allele frequencies were higher in all three goat breeds. Further association analysis demonstrated that this indel is markedly associated with the cannon circumference (CC) and cannon circumference index (CCI) of SBWC and cannon circumference (CC) of Nubian goats (p < .05). The CC and CCI are essential indicators to measure the growth status of goats. In summary, our study sheds some light on the potential impact of the 11-bp indel polymorphism of the DNMT3B gene on improving the growth traits in goats.

A deletion mutation within the goat AKAP13 gene is significantly associated with litter size.

A-kinase anchoring protein 13 (AKAP13) is one of the AKAP protein family members, which is correlated with estrogen receptors (ERs) and progesterone receptor (PR) activity. Consequently, the AKAP13 gene is considered to be one of the candidate genes for regulating female fertility. Hence, the objectives of this study were to discover the potential insertion/deletion (indel) variants within the AKAP13 gene and evaluate their associations with litter size of Shaanbei white cashmere goats (SBWC) to screen candidate genes for the molecular marker-assisted selection (MAS). Ultimately, we found the 16-bp deletion of AKAP13 gene which displayed three genotypes (II, ID and DD). However, it was not confirmed to Hardy-Weinberg equilibrium (HWE) in the tested population. Statistical analysis demonstrated that this 16-bp indel locus was significantly associated with litter size in goats (p < 0.05), in which the ID genotype was a key genotype for increasing litter size in goats. Besides, independent χ2 tests between different genotypes and litter size showed that high-prolific groups had higher frequency of the 'D' allele (p < 0.05). Briefly, AKAP13 gene is a candidate gene for improving fertility, and its 16-bp indel locus can be used as a valid DNA molecular marker for the MAS in goat breeding.

Nuclear Membrane Protein SUN5 Is Highly Expressed and Promotes Proliferation and Migration in Colorectal Cancer by Regulating the ERK Pathway.

SUN5 was first identified as a nuclear envelope protein involved in spermatocyte division. We found that SUN5 was highly expressed in some cancers, but its function and mechanism in cancer development remain unclear. In the present study, we demonstrated that SUN5 was highly expressed in colorectal cancer (CRC) tissues and cells, as indicated by bioinformatics analysis, and SUN5 promoted cell proliferation and migration in vitro. Moreover, the overexpression of SUN5 upregulated phosphorylated ERK1/2 (pERK1/2), whereas the knockdown of SUN5 yielded the opposite results. PD0325901 decreased the level of pERK1/2 to inhibit cell proliferation and migration, which was partially reversed by SUN5 overexpression, indicating that drug resistance existed in patients with high SUN5 expression. The xenograft transplantation experiment showed that SUN5 accelerated tumor formation in vivo. Furthermore, we found that SUN5 regulated the ERK pathway via Nesprin2 mediation and promoted the nuclear translocation of pERK1/2 by interacting with Nup93. Thus, these findings indicated that highly expressed SUN5 promoted CRC proliferation and migration by regulating the ERK pathway, which may contribute to the clinical diagnosis and new treatment strategies for CRC.

Illness Perceptions and Self-Management among People with Chronic Lung Disease and Healthcare Professionals: A Mixed-Method Study Identifying the Local Context.

Self-management interventions (SMIs) may fail if they misalign with the local context. To optimize the implementation of SMIs in Chinese people with chronic lung disease (CLD), the local context was identified in Chinese primary care (PC) and secondary care (SC). A mixed-method study using semi-structured interviews and quantitative surveys was conducted on people with CLD and healthcare professionals (HCPs). The qualitative data was collected until data saturation was reached, and participants were invited to complete the survey after the interview. The qualitative data-analyzed with the framework approach-was triangulated with the quantitative data. A total of 52 participants completed the interviews, and 48 also finished the survey. Four themes were identified; (a) illness perceptions (e.g., patients had poor CLD knowledge and SM, inadequate resources lead to suboptimal disease control in PC); (b) self-management skills (e.g., most patients delayed exacerbation recognition and action, and some were admitted at the crisis point); (c) factors influencing self-management skills (e.g., (in)adequate disease knowledge and medical expenditure affordability); and (d) needs for self-management (e.g., increased disease knowledge, individualized self-management plan, eHealth, (healthcare insurance) policy support). Identified themes were dependent on each other and should be leveraged when implementing SMIs. Ultimately, such SMIs can optimize patient health outcomes.

Digital tools/eHealth to support CKD self-management: A qualitative study of perceptions, attitudes and needs of patients and health care professionals in China.

BACKGROUND: A growing body of evidence supports the potential effectiveness of electronic health (eHealth) self-management interventions in improving disease self-management skills and health outcomes of patients suffering from chronic kidney disease (CKD). However, current research on CKD eHealth self-management interventions has almost exclusively focused on high-income, western countries. OBJECTIVE: To inform the adaptation of a tailored eHealth self-management intervention for patients with CKD in China based on the Dutch Medical Dashboard (MD) intervention, we examined the perceptions, attitudes and needs of Chinese patients with CKD and health care professionals (HCPs) towards eHealth based (self-management) interventions in general and the Dutch MD intervention in specific. METHODS: We conducted a basic interpretive, cross-sectional qualitative study comprising semi-structured interviews with 11 patients with CKD and 10 HCPs, and 2 focus group discussions with 9 patients with CKD. This study was conducted in the First Affiliated Hospital of Zhengzhou University in China. Data collection continued until data saturation was reached. All data were transcribed verbatim and analyzed using a framework approach. RESULTS: Three themes emerged: (1) experience with eHealth in CKD (self-management), (2) needs for supporting CKD self-management with the use of eHealth, and (3) adaptation and implementation of the Dutch MD intervention in China. Both patients and HCPs had experience with and solely mentioned eHealth to 'inform, monitor and track' as potentially relevant interventions to support CKD self-management, not those to support 'interaction' and 'data utilization'. Factors reported to influence the implementation of CKD eHealth self-management interventions included information barriers (i.e. quality and consistency of the disease-related information obtained via eHealth), perceived trustworthiness and safety of eHealth sources, clinical compatibility and complexity of eHealth, time constraints and eHealth literacy. Moreover, patients and HCPs expressed that eHealth interventions should support CKD self-management by improving the access to reliable and relevant disease related knowledge and optimizing the timeliness and quality of patient and HCPs interactions. Finally, suggestions to adaptation and implementation of the Dutch MD intervention in China were mainly related to improving the intervention functionalities and content of MD such as addressing the complexity of the platform and compatibility with HCPs' workflows. CONCLUSIONS: The identified perceptions, attitudes and needs towards eHealth self-management interventions in Chinese settings should be considered by researchers and intervention developers to adapt a tailored eHealth self-management intervention for patients with CKD in China. In more detail, future research needs to engage in co-creation processes with vulnerable groups during eHealth development and implementation, increase eHealth literacy and credibility of eHealth (information resource), ensure eHealth to be easy to use and well-integrated into HCPs' workflows.

REducing delay through edUcation on eXacerbations for people with chronic lung disease: Study protocol of a single-arm pre-post study.

AIM: This study protocol aims to examine the effectiveness and preconditions of a self-management program-named REducing Delay through edUcation on eXacerbations (REDUX)-in China. BACKGROUND: The high disease burden in people with chronic lung disease is mainly due to exacerbations. There is a need for effective exacerbation-management interventions. A nurse-led program, REDUX, helped patients self-manage exacerbations. DESIGN: A single-arm pre-post study. METHODS: Fifty-four patients and 24 healthcare professionals (HCPs) in Chinese primary care will be included. The core element of the program is a personalized action plan. HCPs will receive training in using the action plan to help patients manage exacerbations. The intervention will start when a patient is referred to the nurse for a post-exacerbation consultation and ends when the patient presents for the second post-exacerbation consultation. During the first post-exacerbation consultation, the patient and nurse will create the action plan. The primary outcomes in patients will include the delays between the onset of exacerbation and recognition, between exacerbation recognition and action, between exacerbation recognition and consultation with a doctor, and when the patients feel better after receiving medical help from HCPs. The secondary outcomes will include preconditions of the program. The ethics approval was obtained in September 2021. DISCUSSION: This study will discuss a culturally adapted nurse-led self-management intervention for people with chronic lung disease in China. The intervention could help Chinese HCPs provide efficient care and reduce their workload. Furthermore, it will inform future research on tailoring nurse-led self-management interventions in different contexts. IMPACT: The study will contribute to the evidence on the effectiveness and preconditions of REDUX in China. If effective, the result will assist the nursing of people with chronic lung disease. TRIAL REGISTRATION: Registered in the Chinese clinical trial registry (ID: 2100051782).

The Identification and Validation of Hub Genes Associated with Acute Myocardial Infarction Using Weighted Gene Co-Expression Network Analysis.

Acute myocardial infarction (AMI), one of the most severe and fatal cardiovascular diseases, remains the main cause of mortality and morbidity worldwide. The objective of this study is to investigate the potential biomarkers for AMI based on bioinformatics analysis. A total of 2102 differentially expressed genes (DEGs) were screened out from the data obtained from the gene expression omnibus (GEO) database. Weighted gene co-expression network analysis (WGCNA) explored the co-expression network of DEGs and determined the key module. The brown module was selected as the key one correlated with AMI. Gene Ontology and the Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses demonstrated that genes in the brown module were mainly enriched in 'ribosomal subunit' and 'Ribosome'. Gene Set Enrichment Analysis revealed that 'TNFA_SIGNALING_VIA_NFKB' was remarkably enriched in AMI. Based on the protein-protein interaction network, ribosomal protein L9 (RPL9) and ribosomal protein L26 (RPL26) were identified as the hub genes. Additionally, the polymerase chain reaction (PCR) results indicated that the expression levels of RPL9 and RPL26 were both downregulated in AMI patients compared with controls, in accordance with the bioinformatics analysis. In summary, the identified DEGs, modules, pathways, and hub genes provide clues and shed light on the potential molecular mechanisms of AMI.

Characteristics, Management, and Prognosis of Spontaneous Coronary Intramural Hematoma.

Spontaneous coronary intramural hematoma (SCIH) was one type of spontaneous coronary artery dissection without obvious intimal tear, which is easy to misdiagnose. We aimed to study the characteristics, management, and prognosis of SCIH in our center. All the SCIH patients (n = 30) diagnosed by coronary angiography from January 1, 2012 to December 31, 2018 were enrolled. The demographic characteristics, history, therapy, and follow-up were collected. The mean age of the patients was 51.8 ± 9.5 years. Most of the patients were females (66.7%) with hypertension. Patients with diffuse lesion, focal lesion, and multiple vessels were 70%, 13.3%, and 16.7%, respectively. Conservative treatment was the first choice (76.7%). The mean follow-up time was 29.3 ± 13.5 months. None of the patients had unplanned readmission due to worsening symptoms. Nine patients underwent coronary artery computed tomography reexamination after 10.3 ± 7.5 months, which showed complete recovery of SCIH. Eight patients were hospitalized for coronary angiography 6.4 ± 4.7 months later, which did not show any sign of SCIH. Spontaneous coronary intramural hematoma was most common in post-menopausal women with hypertension. Possibly, antiplatelet drugs should be avoided in SCIH. Waiting for the hematoma to heal was preferable and had a good prognosis.

Exploration of Genetic Variants within the Goat A-Kinase Anchoring Protein 12 (AKAP12) Gene and Their Effects on Growth Traits.

The A-kinase anchoring protein 12 gene (AKAP12) is a scaffold protein, which can target multiple signal transduction effectors, can promote mitosis and cytokinesis and plays an important role in the regulation of growth and development. In our previous study, P1-7 bp (intron 3) and P2-13 bp (3'UTR) indels within the AKAP12 gene significantly influenced AKAP12 gene expression. Therefore, this study aimed to identify the association between these two genetic variations and growth-related traits in Shaanbei white cashmere goats (SBWC) (n = 1405). Herein, we identified two non-linkage insertions/deletions (indels). Notably, we found that the P1-7 bp indel mutation was related to the height at hip cross (HHC; p < 0.05) and the P2-13 bp indel was associated with body weight, body length, chest depth, chest width, hip width, chest circumference and cannon (bone) circumference in SBWC goats (p < 0.05). Overall, the two indels' mutations of AKAP12 affected growth traits in goats. Compared to the P1-7 bp indel, the P2-13 bp indel is more suitable for the breeding of goat growth traits.

Clinical Outcomes of Self-Made Polyurethane-Covered Stent Implantation for the Treatment of Coronary Artery Perforations.

OBJECTIVES: The present study aimed to investigate the short- and long-term clinical outcomes of self-made polyurethane-covered stents (PU-CS) in patients for the management of coronary artery perforation (CAP) during percutaneous coronary intervention (PCI). BACKGROUND: Coronary artery perforation is reckoned as a serious complication in PCI and associated with considerable morbidity and mortality. Covered stents have been used for treating the life-threatening CAP during PCI. But in some catheterization laboratories, no commercial CS is immediately available when there is an urgent need for CS to rescue the coronary rupture site. METHODS: We retrospectively identified 24 patients who underwent 31 self-made PU-CS implantations due to CAP in Zhongshan Hospital, Fudan University, from June 2015 to January 2020. RESULTS: The total procedural success rate of CS to seal the perforation was 79.2%. Nine patients (37.5%) developed cardiac tamponade, of which 8 patients (33.3%) underwent pericardiocentesis and 4 patients (16.7%) underwent cardiac surgeries. Except for 4 cardiac death cases (16.7%), none of myocardial infarction (MI), target lesion revascularization (TLR), and stent thrombosis (ST) was reported during hospital stay. Data from 22 patients (91.7%) were available at 610.4 ± 420.9 days of follow-up. Major adverse cardiac events (MACE) occurred in 6 patients (27.3%), including 5 cases of cardiac death and one TLR case. CONCLUSIONS: Self-made PU-CS demonstrates high rates of successful delivery and sealing of severe CAP during PCI. Although the in-hospital mortality remains high after PU-CS implantation, the long-term follow-up shows favorable clinical outcomes, indicating the feasibility of PU-CS in treating CAP.