Cardiovascular disease (CVD) is the most common and fatal non communicable disease in the world. Hypertension accounts for a large proportion of global non communicable diseases. Irisin was first discovered and named in 2012. As a muscle myokine, irisin has the function of regulating glucose and lipid metabolism. Exercise can promote irisin' participation in energy metabolism in the body. At the same time, it has been found that irisin can intervene in the development of hypertension and have a positive effect on the improvement of hypertension. Therefore, this paper reviews research on the relationship between irisin and hypertension, summarizes the mechanism of irisin’ action on vascular function in hypertension, and analyzes the effect of irisin on blood pressure under exercise intervention.

Objective:To explore the genetic etiology and clinical phenotype of a child with Triadin knockout syndrome (TKOS), and to review the relevant literature of TKOS patients due to variants of TRDN gene. Methods:A child who was admitted to the Children′s Hospital of Xi′an Jiaotong University on March 19, 2023 due to sudden cardiac arrest 3 days earlier was selected as the study subject. Peripheral blood samples (2 to 3 mL) were collected from the child and her parents for the extraction of genomic DNA and whole exome sequencing (WES). Pathogenic variants were searched from databases such as the Genome Aggregation Database (gnomAD) and Online Mendelian Inheritance in Man (OMIM), and were assessed based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Sanger sequencing was carried out for family validation of the pathogenic variants. Using keywords such as " arrhythmias" " TRDN" and " Triadin" both in Chinese and English, relevant literature on TKOS patients due to variants of the TRDN gene was retrieved from the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases, and the time of literature retrieval was set from January 1, 2012 to December 1, 2023. This study has been approved by the Ethics Committee of the Affiliated Children′s Hospital of Xi′an Jiaotong University (No. 20230097), and informed consent was obtained from the parents of the child. Results:The child had experienced syncope and cardiac arrest after exercise. Electrocardiographic examination revealed QTc interval prolongation, T-wave inversion in precordial leads V1-V3, polymorphic ventricular premature beat (VPB), and ventricular tachycardia (VT) along with increased heart rate. WES and Sanger sequencing revealed that the child has harbored a homozygous c.463del(p.E155Kfs*20) variant of the TRDN gene, for which both of the parents were heterozygous. Based on the guidelines from the ACMG, the variant was classified as pathogenic (PVS1+ PM2+ PM3). The child was ultimately diagnosed with TKOS. In total 12 publications on TOKS cases caused by TRDN gene variants were retrieved, which involved 30 patients and 28 carriers of single heterozygous variant of the TRDN gene. Among the 30 TKOS patients, 20 had carried homozygous variants of the TRDN gene, and 10 had carried compound heterozygous variants, and all had exhibited significant clinical phenotype of arrhythmia, with most cases had experienced malignant arrhythmia induced by exercise and/or excitement during infancy or early childhood, leading to recurrent syncope and cardiac arrest. Of note, none of the 28 carriers of single heterozygous variant had abnormal clinical phenotype. Conclusion:The homozygous c.463del(p.E155Kfs20) variant of the TRDN gene probably underlay the pathogenesis of cardiac arrest in this child. Above discovery has enriched the mutational spectrum of the TRDN gene.This mutation may represent a genetic cause for cardiac arrest in children with TKOS.

Objective To compare the value of TACE+microwave ablation(MWA)+programmed death-1(PD-1)and TACE+MWA for treating primary hepatic carcinoma(PHC).Methods Data of 80 PHC patients who underwent TACE+MWA+PD-1(observe group)or TACE+MWA treatment(control group)were retrospectively analyzed(each n=40).The baseline data,therapeutic efficacy of PHC and complications were compared between groups.Results No significant difference of baseline data was found between groups(all P＞0.05).The objective response rate(ORR)of observe group and control group was 90.00％and 72.50％,respectively,while the disease control rate(DCR)was 97.50％and 95.00％,respectively,with no significant difference between groups(both P＞0.05).The median overall survival(OS)of observe group and control group was 30.80 months and 15.70 months,respectively,while the median progression free survival(PFS)was 23.35 months and 6.80 months,respectively.OS and PFS of observe group were both longer than those of control group(both P＜0.05).No significant difference of the incidence of complications was detected between groups(all P＞0.05),and all were improved after symptomatic treatment.Conclusion TACE+MWA+PD-1 was superior to TACE+MWA for treating PHC.

Background: and Purpose Syncope is characterized by the temporary loss of consciousness and is commonly associated with migraine. However, the genetic factors that contribute to this association are not well understood. This study investigated the specific genetic loci that make patients with migraine more susceptible to syncope as well as the genetic factors contributing to syncope and migraine comorbidity in a Han Chinese population in Taiwan. Methods: A genome-wide association study was applied to 1,724 patients with migraine who visited a tertiary hospital in Taiwan. The patients were genotyped using the Affymetrix Axiom Genome-Wide TWB 2.0 array and categorized into the following subgroups based on migraine type: episodic migraine, chronic migraine, migraine with aura, and migraine without aura. Multivariate regression analyses were used to assess the relationships between specific single-nucleotide polymorphisms (SNPs) and the clinical characteristics in patients with syncope and migraine comorbidity. Results: In patients with migraine, SNPs were observed to be associated with syncope. In particular, the rs797384 SNP located in the intron region of LOC102724945 was associated with syncope in all patients with migraine. Additionally, four SNPs associated with syncope susceptibility were detected in the nonmigraine control group, and these SNPs differed from those in the migraine group, suggesting distinct underlying mechanisms. Furthermore, the rs797384 variant in the intron region of LOC102724945 was associated with the score on the Beck Depression Inventory. Conclusions The novel genetic loci identified in this study will improve our understanding of the genetic basis of syncope and migraine comorbidity.

Background: and Purpose Syncope is characterized by the temporary loss of consciousness and is commonly associated with migraine. However, the genetic factors that contribute to this association are not well understood. This study investigated the specific genetic loci that make patients with migraine more susceptible to syncope as well as the genetic factors contributing to syncope and migraine comorbidity in a Han Chinese population in Taiwan. Methods: A genome-wide association study was applied to 1,724 patients with migraine who visited a tertiary hospital in Taiwan. The patients were genotyped using the Affymetrix Axiom Genome-Wide TWB 2.0 array and categorized into the following subgroups based on migraine type: episodic migraine, chronic migraine, migraine with aura, and migraine without aura. Multivariate regression analyses were used to assess the relationships between specific single-nucleotide polymorphisms (SNPs) and the clinical characteristics in patients with syncope and migraine comorbidity. Results: In patients with migraine, SNPs were observed to be associated with syncope. In particular, the rs797384 SNP located in the intron region of LOC102724945 was associated with syncope in all patients with migraine. Additionally, four SNPs associated with syncope susceptibility were detected in the nonmigraine control group, and these SNPs differed from those in the migraine group, suggesting distinct underlying mechanisms. Furthermore, the rs797384 variant in the intron region of LOC102724945 was associated with the score on the Beck Depression Inventory. Conclusions The novel genetic loci identified in this study will improve our understanding of the genetic basis of syncope and migraine comorbidity.

Background: and Purpose Syncope is characterized by the temporary loss of consciousness and is commonly associated with migraine. However, the genetic factors that contribute to this association are not well understood. This study investigated the specific genetic loci that make patients with migraine more susceptible to syncope as well as the genetic factors contributing to syncope and migraine comorbidity in a Han Chinese population in Taiwan. Methods: A genome-wide association study was applied to 1,724 patients with migraine who visited a tertiary hospital in Taiwan. The patients were genotyped using the Affymetrix Axiom Genome-Wide TWB 2.0 array and categorized into the following subgroups based on migraine type: episodic migraine, chronic migraine, migraine with aura, and migraine without aura. Multivariate regression analyses were used to assess the relationships between specific single-nucleotide polymorphisms (SNPs) and the clinical characteristics in patients with syncope and migraine comorbidity. Results: In patients with migraine, SNPs were observed to be associated with syncope. In particular, the rs797384 SNP located in the intron region of LOC102724945 was associated with syncope in all patients with migraine. Additionally, four SNPs associated with syncope susceptibility were detected in the nonmigraine control group, and these SNPs differed from those in the migraine group, suggesting distinct underlying mechanisms. Furthermore, the rs797384 variant in the intron region of LOC102724945 was associated with the score on the Beck Depression Inventory. Conclusions The novel genetic loci identified in this study will improve our understanding of the genetic basis of syncope and migraine comorbidity.

Objective: The relationship between adverse childhood experiences and methamphetamine use disorder (MUD) has been shown in previous studies; nevertheless, the underlying neural mechanisms remain elusive. Childhood trauma is associated with aberrant functional connectivity (FC) within the default-mode network (DMN). Furthermore, within the DMN, FC may contribute to impaired self-awareness in addiction, while cross-network FC is critical for relapse.We aimed to investigate whether childhood trauma was associated with DMN-related resting-state FC among healthy controls and patients with MUD and to examine whether DMN-related FC affected the effect of childhood trauma on the symptom load of MUD diagnosis. Methods: Twenty-seven male patients with MUD and 27 male healthy controls were enrolled and completed the Childhood Trauma Questionnaire. DMN-related resting-state FC was examined using functional magnetic resonance imaging. Results: There were 47.1% healthy controls and 66.7% MUD patients in this study with adverse childhood experiences.Negative correlations between adverse childhood experiences and within-DMN FC were observed in both healthy controls and MUD patients, while within-DMN FC was significantly altered in MUD patients. The detrimental effects of adverse childhood experiences on MUD patients may be attenuated through DMN-executive control networks (ECN) FC. Conclusion Adverse childhood experiences were negatively associated with within-DMN FC in MUD patients and healthy controls. However, DMN-ECN FC may attenuate the effects of childhood trauma on symptoms load of MUD.

Background: and Purpose Migraine is a condition that is often observed to run in families, but its complex genetic background remains unclear. This study aimed to identify the genetic factors influencing migraines and their potential association with the family medical history. Methods: We performed a comprehensive genome-wide association study of a cohort of 1,561 outpatients with migraine and 473 individuals without migraine in Taiwan, including Han Chinese individuals with or without a family history of migraine. By analyzing the detailed headache history of the patients and their relatives we aimed to isolate potential genetic markers associated with migraine while considering factors such as sex, episodic vs. chronic migraine, and the presence of aura. Results: We revealed novel genetic risk loci, including rs2287637 in DEAD-Box helicase 1 and long intergenic non-protein coding RNA 1804 and rs12055943 in engulfment and cell motility 1, that were correlated with the family history of migraine. We also found a genetic location downstream of mesoderm posterior BHLH transcription factor 2 associated with episodic migraine, whereas loci within the ubiquitin-specific peptidase 26 exonic region, dual specificity phosphatase 9 and pregnancy-upregulated non-ubiquitous CaM kinase intergenic regions, and poly (ADP-ribose) polymerase 1 and STUM were linked to chronic migraine. We additionally identified genetic regionsassociated with the presence or absence of aura. A locus between LINC02561 and urocortin 3 was predominantly observed in female patients. Moreover, three different single-nucleotide polymorphisms were associated with the family history of migraine in the control group. Conclusions This study has identified new genetic locations associated with migraine and its family history in a Han Chinese population, reinforcing the genetic background of migraine. The findings point to potential candidate genes that should be investigated further.

Background/Aims: Ineffective esophageal motility (IEM) is common in patients with gastroesophageal reflux disease (GERD) and can be associated with poor esophageal contraction reserve on multiple rapid swallows. Alterations in the esophageal microbiome have been reported in GERD, but the relationship to presence or absence of contraction reserve in IEM patients has not been evaluated. We aim to investigate whether contraction reserve influences esophageal microbiome alterations in patients with GERD and IEM. Methods: We prospectively enrolled GERD patients with normal endoscopy and evaluated esophageal motility and contraction reserve with multiple rapid swallows during high-resolution manometry. The esophageal mucosa was biopsied for DNA extraction and 16S ribosomal RNA gene V3-V4 (Illumina)/full-length (Pacbio) amplicon sequencing analysis. Results: Among the 56 recruited patients, 20 had normal motility (NM), 19 had IEM with contraction reserve (IEM-R), and 17 had IEM without contraction reserve (IEM-NR). Esophageal microbiome analysis showed a significant decrease in microbial richness in patients with IEM-NR when compared to NM. The beta diversity revealed different microbiome profiles between patients with NM or IEM-R and IEM-NR (P = 0.037). Several esophageal bacterial taxa were characteristic in patients with IEM-NR, including reduced Prevotella spp.and Veillonella dispar, and enriched Fusobacterium nucleatum. In a microbiome-based random forest model for predicting IEM-NR, an area under the receiver operating characteristic curve of 0.81 was yielded. Conclusions In symptomatic GERD patients with normal endoscopic findings, the esophageal microbiome differs based on contraction reserve among IEM. Absent contraction reserve appears to alter the physiology and microbiota of the esophagus.

Qualitative and quantitative analysis of 2-(2-phenylethyl) chromones in sodium chloride(NaCl)-treated suspension cells of Aquilaria sinensis was conducted by UPLC-Q-Exactive-MS and UPLC-QQQ-MS/MS. Both analyses were performed on a Waters T3 column(2.1 mm×50 mm, 1.8 μm) with 0.1% formic acid aqueous solution(A)-acetonitrile(B) as mobile phases at gradient elution. MS data were collected by electrospray ionization in positive ion mode. Forty-seven phenylethylchromones was identified from NaCl-treated suspension cell samples of A. sinensis using UPLC-Q-Exactive-MS, including 22 flindersia-type 2-(2-phenylethyl) chromones and their glycosides, 10 5,6,7,8-tetrahydro-2-(2-phenylethyl) chromones and 15 mono-epoxy or diepoxy-5,6,7,8-tetrahydro-2-(2-phenylethyl) chromones. Additionally, 25 phenylethylchromones were quantitated by UPLC-QQQ-MS/MS. Overall, the rapid and efficient qualitative and quantitative analysis of phenylethylchromones in NaCl-treated suspension cells of A. sinensis by two LC-MS techniques, provides an important reference for the yield of phenylethylchromones in Aquilariae Lignum Resinatum using in vitro culture and other biotechnologies.
Chromones ; Sodium Chloride ; Chromatography, Liquid ; Flavonoids ; Tandem Mass Spectrometry ; Thymelaeaceae