ObjectiveTo investigate the core influencing factors for quality of life in patients with primary biliary cholangitis through a systematic review， and to provide an evidence-based basis for understanding such factors. MethodsThe databases including CNKI， Wanfang Data， CBM， VIP， PubMed， Embase， Web of Science， Ovid， Scopus， and Medline were searched for articles assessing the influencing factors for quality of life in patients with primary biliary cholangitis using PBC-40 scale published up to January 11， 2025. Quality assessment was conducted using the scale compiled by the Agency for Healthcare Research and Quality， and then a qualitative evaluation was performed for the basic situation of the studies included in the analysis. ResultsA total of 11 articles were included， and the results showed that age， sex， albumin， alkaline phosphatase， gamma-glutamyl transferase， direct bilirubin， total bilirubin， total bile acid， alanine aminotransferase， aspartate aminotransferase， body mass index， and high-density lipoprotein cholesterol were important influencing factors for quality of life in patients with primary biliary cholangitis. ConclusionInfluencing factors include demographic features， liver function parameters， and physical and metabolic indicators； however， due to the limited number of studies， more high-quality large-sample studies are needed in the future.

Objective To establish an ultra-high performance liquid chromatography with quadrupole time-of-flight mass spectrometry(UPLC-QTOF-MS)method for identifying the active ingredients of Zhizi Houpu decoction,and to predict its material basis and mechanism of anti-insomnia effects using network pharmacology.Methods The chemical components of Zhizi Houpu decoction were identified according to UHPLC-QTOF-MS ion fragmentation rule combined with compound library and literature review.Components with oral bioavailability(OB)≥30％and drug-like properties(DL)≥0.18 were selected to construct the Zhizi Houpu decoction-active ingredients-target network.The STRING database and the Database for Annotation,Visualization,and Integrated Discovery(DAVID)were used to screen key target proteins.Subsequently,enrichment analysis was performed for biological processes,molecular functions,cellular components,and signaling pathways.Results A total of 107 chemical components were identified,including 35 compounds related to insomnia and 11 anti-insomnia targets such as AKT serine/threonine kinase 1,tumor protein 53,and prostaglandin-endoperoxide synthase 2.Gene Ontology functional enrichment analysis indicated that Zhizi Houpo decoction may exert its effects through cellular components such as the presynaptic membrane,dendrite,and plasma membrane,by participating in biological processes like chemical synaptic transmission,G protein signaling pathway,and neuron apoptosis,and by regulating molecular functions such as G protein-coupled serotonin receptor activity.Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis revealed that its anti-insomnia effects were mainly concentrated in pathways such as neuroactive ligand-receptor interaction,calcium signaling pathway,serotonergic synapse,and cyclic adenosine monophosphate signaling pathway.Conclusion The anti-insomnia effect of Zhizi Houpo decoction is the result of a synergistic action involving multiple components,multiple targets,and multiple pathways.Its material basis and mechanism of action are primarily related to regulating biological processes such as neurotransmitter metabolism,synaptic function,neuronal apoptosis,and inflammatory response.

Objective:To investigate the effect of thrombocytopenia and coagulation dysfunction on bleeding complications in patients undergoing percutaneous liver biopsy.Methods:The clinical, laboratory, and demographic data of patients undergoing percutaneous liver biopsy at the First Affiliated Hospital of Air Force Medical University from January 2005 to January 2024 were retrospectively analyzed. The incidence of bleeding was recorded. Univariate and multivariate logistic regression analyses were used to assess the effects of thrombocytopenia and coagulation dysfunction on the risk of postoperative bleeding. Furthermore, we assessed the bleeding risk in patients with autoimmune hepatitis.Results:A total of 2 885 liver perforations were performed in 2 364 patients, 98.4% of whom had an autoimmune liver disease. There were 27 cases of postoperative bleeding (0.9%). The univariate logistic regression analysis showed that platelet count (PLT)( P<0.05, OR=0.975), coagulation dysfunction (international normalized ratio; INR)( P<0.05, OR=6.954), and cirrhosis ( P<0.05, OR=3.857) were associated with bleeding. The multivariate logistic regression analysis showed that PLT was an independent risk factor for bleeding ( P<0.05, OR=0.975). PLT scores of 40×10 9/L and 65×10 9/L can classify the bleeding risk of patients with thrombocytopenia into high, medium, and low risk. There was no difference in the risk of bleeding between the 40×10 9/L0.05, χ2=0.10). The risk of bleeding in the 31×10 9/L≤PLT≤40×10 9/L group was higher than that in the 40×10 9/L0.05, χ2=0.10). Furthermore, the bleeding cases were considered mild as the bleeding stopped after pressure hemostasis. Conclusions:PLT is an independent risk factor for bleeding after hepatocentesis. When the PLT is >40×10 9/L, hepatocentesis can still be performed safely with appropriate management measures.

Objective:To evaluate the quality of information on autoimmune liver disease in videos on the TikTok short video platform.Methods:The keyword "autoimmune liver disease" was used to search the top 200 videos on TikTok in the default sorting order. Using the DISCERN video quality assessment tool and the structured content integrity evaluation tool, we assessed the quality of the information in each video in relation to the pertinent disease guidelines. Furthermore, we investigated any relationships between the quality of the videos and their characteristics (likes, comments, retweets, days and duration of uploading).Results:A total of 140 videos were included, 96.4% of which were provided by medical professionals. The content completeness scores for each dimension were as follows: definition, 1.0 (0.0, 1.0); symptoms, 0.0 (0.0, 1.0); risk factors, 0.0 (0.0, 0.5); assessment, 0.5 (0.0, 1.5); management, 0.5 (0.0, 1.0); and outcome, 0.0 (0.0, 1.0). Furthermore, 91.4% of videos with DISCERN scores of ≤50 were of "fair" quality or below. Additionally, the difference in DISCERN scores between videos from different publishers was not statistically significant ( P>0.05). The number of likes, comments, favorites, retweets, and video duration had a strong positive correlation with the overall DISCERN score ( r=0.17, 0.18, 0.25, 0.26, 0.44, all P<0.05). Conclusions:The overall quality of videos related to autoimmune liver disease on the TikTok video platform is low. Therefore, publishers should focus on the comprehensiveness and accuracy of the information. Additionally, the TikTok platform should optimize its video review mechanism to provide the public with more accurate and reliable health information.

Objective:To investigate the effect of thrombocytopenia and coagulation dysfunction on bleeding complications in patients undergoing percutaneous liver biopsy.Methods:The clinical, laboratory, and demographic data of patients undergoing percutaneous liver biopsy at the First Affiliated Hospital of Air Force Medical University from January 2005 to January 2024 were retrospectively analyzed. The incidence of bleeding was recorded. Univariate and multivariate logistic regression analyses were used to assess the effects of thrombocytopenia and coagulation dysfunction on the risk of postoperative bleeding. Furthermore, we assessed the bleeding risk in patients with autoimmune hepatitis.Results:A total of 2 885 liver perforations were performed in 2 364 patients, 98.4% of whom had an autoimmune liver disease. There were 27 cases of postoperative bleeding (0.9%). The univariate logistic regression analysis showed that platelet count (PLT)( P<0.05, OR=0.975), coagulation dysfunction (international normalized ratio; INR)( P<0.05, OR=6.954), and cirrhosis ( P<0.05, OR=3.857) were associated with bleeding. The multivariate logistic regression analysis showed that PLT was an independent risk factor for bleeding ( P<0.05, OR=0.975). PLT scores of 40×10 9/L and 65×10 9/L can classify the bleeding risk of patients with thrombocytopenia into high, medium, and low risk. There was no difference in the risk of bleeding between the 40×10 9/L0.05, χ2=0.10). The risk of bleeding in the 31×10 9/L≤PLT≤40×10 9/L group was higher than that in the 40×10 9/L0.05, χ2=0.10). Furthermore, the bleeding cases were considered mild as the bleeding stopped after pressure hemostasis. Conclusions:PLT is an independent risk factor for bleeding after hepatocentesis. When the PLT is >40×10 9/L, hepatocentesis can still be performed safely with appropriate management measures.

Objective:To evaluate the quality of information on autoimmune liver disease in videos on the TikTok short video platform.Methods:The keyword "autoimmune liver disease" was used to search the top 200 videos on TikTok in the default sorting order. Using the DISCERN video quality assessment tool and the structured content integrity evaluation tool, we assessed the quality of the information in each video in relation to the pertinent disease guidelines. Furthermore, we investigated any relationships between the quality of the videos and their characteristics (likes, comments, retweets, days and duration of uploading).Results:A total of 140 videos were included, 96.4% of which were provided by medical professionals. The content completeness scores for each dimension were as follows: definition, 1.0 (0.0, 1.0); symptoms, 0.0 (0.0, 1.0); risk factors, 0.0 (0.0, 0.5); assessment, 0.5 (0.0, 1.5); management, 0.5 (0.0, 1.0); and outcome, 0.0 (0.0, 1.0). Furthermore, 91.4% of videos with DISCERN scores of ≤50 were of "fair" quality or below. Additionally, the difference in DISCERN scores between videos from different publishers was not statistically significant ( P>0.05). The number of likes, comments, favorites, retweets, and video duration had a strong positive correlation with the overall DISCERN score ( r=0.17, 0.18, 0.25, 0.26, 0.44, all P<0.05). Conclusions:The overall quality of videos related to autoimmune liver disease on the TikTok video platform is low. Therefore, publishers should focus on the comprehensiveness and accuracy of the information. Additionally, the TikTok platform should optimize its video review mechanism to provide the public with more accurate and reliable health information.

Objective To investigate the relationship and potential pathways between metal(loid)exposure and the risk of polycystic ovary syndrome(PCOS)in women of childbearing age. Methods This case-control study included 200 patients with PCOS(cases)and 896 non-PCOS controls with the age of 25-37 years.The concentrations of 29 metal(loid)s in the follicular fluid(FF)and clinical indicators in the serum were measured in all participants.Logistic regression analysis and mediation analysis were conducted to evaluate the associations between metal(loid)exposure and PCOS risk and investigate the possible roles of clinical indicators,respectively. Results Logistic regression analysis revealed an association between high copper levels in FF and increased PCOS risk(highest vs.lowest quartile:adjusted odds ratio=2.94,95%confidence interval:1.83-4.72).A high luteinizing hormone/follicle-stimulating hormone ratio and elevated levels of testosterone and anti-Müllerian hormone(AMH)were strongly associated with increased PCOS risk induced by high copper exposure.The mediation analysis indicated a mediating effect of AMH in the association between copper exposure and PCOS risk. Conclusion Copper may affect PCOS risk through the hypothalamic-pituitary-ovarian axis,mediated by AMH.Copper exposure and internal AMH levels are important indicators for early warning of PCOS development.

From October 2021 to February 2023, we retrospectively analyzed the clinical and laboratory data of six patients (three male and three female, median age: 54 years, age range: 29-73 years) with mast cell leukemia (MCL) diagnosed in the First Affiliated Hospital of Soochow University (The Mastocytosis Collaborative Network of China). All patients had acute MCL, with at least one C-finding present. The main clinical presentations were hypoalbuminemia ( n=4), fatigue ( n=3), fever ( n=2), abdominal discomfort ( n=2), osteolytic lesions ( n=2), dizziness ( n=1), skin flushing ( n=1), and weight loss ( n=1). Splenomegaly and lymphadenopathy were noted in six and three patients, respectively. Six patients were strongly positive for CD117, five were positive for CD30 and CD25, and four were positive for CD2. Four patients had a normal karyotype and two patients had an abnormal karyotype. Gene mutations were detected in 4/6 cases. The median serum tryptase level was 24.9 (range: 20.1-171.9) μg/L. Two patients were treated with venetoclax and azacitidine for induction (one patient achieved partial remission by combination with afatinib, while there was no remission after combination with dasatinib in the other patient). Two patients did not achieve complete remission despite treatment with cladribine and imatinib, respectively. One patient treated with interferon combined with glucocorticoids was lost to follow-up, and one patient abandoned treatment. The follow-up time ranged from 1.1 to 21.7 months. Three patients died and two survived. Overall, MCL is a rare subtype of systemic mastocytosis with heterogeneous clinical course, and these patients have poor outcome. A better understanding of the clinical characteristics, treatment, and prognosis of MCL is urgently needed.

Objective:To explore the value of polar body sequencing in preimplantation genetic testing (PGT) for monogenic disease of a female patient with Van der Woude syndrome.Methods:PGT based on polar body sequencing was performed for a female patient with Van der Woude syndrome caused by a de novoIRF6 pathogenic variant. Totally six oocytes were fertilized by intracytoplasmic sperm injection (ICSI). The first, second polar bodies and the trophoblast ectoderm cells of blastocysts were biopsied respectively. Sanger sequencing was used to detect the pathogenic variant in the biopsied cells after genome-wide amplification. The genotypes and pathogenic possibilities of the embryos were inferred according to the genotypes of corresponding tested polar bodies. In order to prevent the absence of transplantable embryos due to the failure of blastocyst culture, vitrification was performed on an embryo with good morphology and low pathogenic possibility before blastocyst formation. The 175 single nucleotide polymorphisms (SNPs) within the 1M region upstream and downstream from the pathogenic variant location were tested by targeted capture sequencing in the couple and selected polar bodies and embryos to construct the haplotypes. An embryo with low pathogenic possibility was transferred. Prenatal diagnosis was strongly recommended after successful pregnancy. Prenatal and postnatal follow-up were performed. Results:Totally six first polar bodies and six second polar bodies were obtained. The pathogenic variant was successfully sequenced in 11 polar bodies. Among the six embryos, one embryo with low pathogenic possibility was vitrified on day 4 (D4) after fully informed consent of the couple; one embryo developed to blastocyst was detected with high pathogenic possibility; the other four embryos were degenerated during blastocyst culture. The SNP haplotypes closely linked to the pathogenic variant location were successfully constructed by linkage analysis. The haplotype analysis of the embryos was in consistent with Sanger sequencing. The D4 embryo with low pathogenic possibility was transferred. The couple refused to conduct invasive prenatal diagnosis after pregnancy. None orofacial clefts were detected after the baby was born, and the pathogenic variant was not detected in the neonatal cord blood either.Conclusion:This study successfully blocked a female patient with Van der Woude syndrome caused by a de novoIRF6 pathogenic variant give birth to an affected baby by polar body sequencing based preimplantation genetic testing for monogenic disease.

OBJECTIVE: To assess the value of single sperm sequencing in preimplantation genetic testing for monogenic disease (PGT-M). METHODS: A Chinese couple with two children whom had died of Spinal muscular atrophy (SMA) and attended the Jiangxi Provincial Maternal and Child Health Care Hospital in June 2020 was selected as the subject. Eleven single sperm samples were isolated by mechanical immobilization and subjected to whole genome amplification. Real-time PCR and Sanger sequencing were used to detect the SMN1 variants in the single sperm samples. Genomic DNA of the wife, her parents and the husband, as well as one single sperm sample harboring the SMN1 variant and two single sperm samples without the variant were used for the linkage analysis. Targeted capture and high-throughput sequencing were carried out to test 100 single nucleotide polymorphisms distributed within 2 Mb up- and downstream the variant site. The haplotypes linked with the SMN1 variants were determined by linkage analysis. Blastocyst embryos were harvested after fertilizing by intracytoplasmic sperm injection. Cells from the trophoblasts of each embryo were biopsied and subjected to whole genome amplification and targeted capture and high-throughput sequencing to determine their carrier status. Chromosomal aneuploidy of wild-type embryos was excluded. An euploid embryo of high quality was transferred. Amniotic fluid sample was taken at 18 weeks of gestation to confirm the status of the fetus. RESULTS: Genetic testing showed that the couple both had deletion of exons 7 ~ 8 of the SMN1 gene. The wife has inherited the deletion from her father, while the husband was de novo. The haplotypes of the husband were successfully constructed by single sperm sequencing. Preimplantation genetic testing has indicated that 5 embryos had harbored the heterozygous variant, 4 embryos were of the wild type, among which 3 were euploid. Prenatal diagnosis during the second trimester of pregnancy has confirmed that the fetus did not carry the deletion. CONCLUSION By single sperm sequencing and PGT-M, the birth of further affected child has been successfully avoided.
Humans ; Pregnancy ; Female ; Child ; Male ; Preimplantation Diagnosis ; East Asian People ; Semen ; Genetic Testing ; Muscular Atrophy, Spinal/genetics* ; Aneuploidy ; Blastocyst/pathology* ; High-Throughput Nucleotide Sequencing ; Spermatozoa