OBJECTIVE: To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation. METHODS: A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241). RESULTS: MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c.1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c.2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+PM2_Supporting+PM3+PP1) and likely pathogenic (PM2_Supporting+PM3+PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.
Humans ; Male ; Pedigree ; Cholestasis, Intrahepatic/diagnostic imaging* ; Adenosine Triphosphatases/genetics* ; Female ; Adult ; Exome Sequencing ; Mutation ; East Asian People

Objective:To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation.Methods:A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241).Results:MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c. 1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c. 2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+ PM2_Supporting+ PM3+ PP1) and likely pathogenic (PM2_Supporting+ PM3+ PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.

As the location with special public health environments,funeral parlors are of paramount importance in the prevention and control of infectious diseases as well as disinfection practices.This paper analyzes the unique hy-gienic characteristics of funeral parlors,summarizes relevant laws,regulations,standards,and literatures in funeral parlors at home and abroad,and elaborates the problems relevant to infection prevention and control in funeral par-lors from perspectives of body disposal risks,microbial contamination characteristics in funeral parlors,and the current status of staff's knowledge on infectious diseases.It aims to enhance the professional prevention and control capabilities of funeral service personnel and management personnel,ensure the health and safety of service recipients and staff,optimize service quality,provide theoretical basis and practical guidance for forming a sound infectious disease prevention and control system for funeral service institutions,and clarify research directions for the preven-tion and control of infectious diseases in funeral parlors in the future.

Objective:To explore the effect of fibroblast growth factor 2(FGF2)on ferroptosis of renal fibrotic cells and its po-tential molecular mechanisms.Methods:Rat NRK-52E cells were randomly divided into control group,renal fibrosis model group,FGF2 cytokine stimulation group,knockdown empty plasmid group,si-FGF2 group,overexpression empty plasmid group,overexpres-sion FGF2 group,Fer-1 treatment group.The model group was treated with TGF-β1 to obtain a renal fibrosis cell model.Cellular im-munofluorescence method was used to measure the level of cell fibrosis.Western blot was used to detect ferroptosis-related proteins(Nrf2,GPX4 and SLC7A11)and pathway proteins(STAT3,p-STAT3)expression level in the cells.Results:Knockdown of FGF2 could alleviate the increase in α-SMA and Collagen Ⅲ proteins caused by TGF-β1 stimulation of renal tubular cells(P<0.05).FGF2 could promote the activation of STAT3 protein into p-STAT3.The expression level of SLC7A11 protein was significantly increased after FGF2 cytokine stimulation(P<0.05).Compared with the control group,the expressions of Nrf2 and GPX4 in renal fibrotic cells in the si-FGF2 group and Fer-1 treated group were significantly reduced(P<0.05).In addition,knockdown of FGF2 significantly reduced in-terstitial fibrosis of renal tubular epithelial cells(P<0.05).Conclusion:FGF2 may mediate TGF-β1-induced renal ferroptosis through the STAT3/SLC7A11 signaling pathway,and knock down of FGF2 can improve fibrosis of renal tubular epithelial cells.

As the location with special public health environments,funeral parlors are of paramount importance in the prevention and control of infectious diseases as well as disinfection practices.This paper analyzes the unique hy-gienic characteristics of funeral parlors,summarizes relevant laws,regulations,standards,and literatures in funeral parlors at home and abroad,and elaborates the problems relevant to infection prevention and control in funeral par-lors from perspectives of body disposal risks,microbial contamination characteristics in funeral parlors,and the current status of staff's knowledge on infectious diseases.It aims to enhance the professional prevention and control capabilities of funeral service personnel and management personnel,ensure the health and safety of service recipients and staff,optimize service quality,provide theoretical basis and practical guidance for forming a sound infectious disease prevention and control system for funeral service institutions,and clarify research directions for the preven-tion and control of infectious diseases in funeral parlors in the future.

Objective:To explore the effect of fibroblast growth factor 2(FGF2)on ferroptosis of renal fibrotic cells and its po-tential molecular mechanisms.Methods:Rat NRK-52E cells were randomly divided into control group,renal fibrosis model group,FGF2 cytokine stimulation group,knockdown empty plasmid group,si-FGF2 group,overexpression empty plasmid group,overexpres-sion FGF2 group,Fer-1 treatment group.The model group was treated with TGF-β1 to obtain a renal fibrosis cell model.Cellular im-munofluorescence method was used to measure the level of cell fibrosis.Western blot was used to detect ferroptosis-related proteins(Nrf2,GPX4 and SLC7A11)and pathway proteins(STAT3,p-STAT3)expression level in the cells.Results:Knockdown of FGF2 could alleviate the increase in α-SMA and Collagen Ⅲ proteins caused by TGF-β1 stimulation of renal tubular cells(P<0.05).FGF2 could promote the activation of STAT3 protein into p-STAT3.The expression level of SLC7A11 protein was significantly increased after FGF2 cytokine stimulation(P<0.05).Compared with the control group,the expressions of Nrf2 and GPX4 in renal fibrotic cells in the si-FGF2 group and Fer-1 treated group were significantly reduced(P<0.05).In addition,knockdown of FGF2 significantly reduced in-terstitial fibrosis of renal tubular epithelial cells(P<0.05).Conclusion:FGF2 may mediate TGF-β1-induced renal ferroptosis through the STAT3/SLC7A11 signaling pathway,and knock down of FGF2 can improve fibrosis of renal tubular epithelial cells.

Objective:To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation.Methods:A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241).Results:MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c. 1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c. 2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+ PM2_Supporting+ PM3+ PP1) and likely pathogenic (PM2_Supporting+ PM3+ PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.

OBJECTIVE To establish the fingerprint of Pinghuo tea standard decoction and a method for determination of multi-component to clarify the transfer relationship of quantities and quality from pieces and standard decoction.METHODS Fifteen batches of Pinghuo tea standard decoction were prepared and the extract rate was determined;the fingerprint of the preparation was established by using high-performance liquid chromatography(HPLC);the similarity evaluation and the determination of common peaks were performed,and chemometric analysis was performed;the same method was used to determine the content of indicator components and the transfer rate was calculated.The chromatographic column was Venusil C18 column with mobile phase consisted of acetonitrile-0.1％ phosphoric acid solution (gradient elution);the column temperature was 30 ℃,and the detection wavelengths were 238 nm (0-37 min,85-102 min) and 330 nm (37-85 min) at a flow rate of 1.0 mL/min with an injection volume of 10 μL.RESULTS The similarity of HPLC fingerprints for 15 batches of Pinghuo tea standard decoction was not lower than 0.968.A total of 24 common peaks were calibrated and 9 peaks were recognized,which were as follows neochlorogenic acid (peak 3),chlorogenic acid (peak 6),geniposide (peak 9),glycyrrhizin (peak 10),galuteolin (peak 11),isochlorogenic acid A (peak 14),luteolin (peak 21),kaempferol (peak 23) and glycyrrhizic acid (peak 24).Cluster analysis,principal component analysis and orthogonal partial least squares discriminant analysis showed consistent results,all of which could classify the 15 batches of samples into three categories.The linear range of indicator components in 15 batches of Pinghuo tea standard decoction,such as geniposide,luteolin,isochlorogenic acid A,glycyrrhizin,and glycyrrhizic acid,were 0.020580-0.411600,0.001617-0.080850,0.006076-0.607600,0.005125-0.071740,and 0.017288-0.432200 mg/mL,respectively;RSDs of precision,repeatability,stability and recovery rate tests were all not higher than 4％ (n=6).The mass fractions ranged 3.2279-10.0022,0.2974-0.5546,3.3501-6.1596,0.7206-1.0733,2.0031-3.0301 mg/g;transfer rates from the pieces and standard decoction were 19.7628％-35.8405％,12.1233％-21.2540％,46.0972％-82.8694％,58.7088％-91.6296％,39.1143％-63.7106％.The transfer rates of the extract from 15 batches of Pinghuo tea standard decoction ranged from 61.15％-84.68％.CONCLUSIONS Established HPLC fingerprint and content determination methods in this study are simple and accurate,which can provide reference for the quantitative value transfer study,quality control,clinical application and the development of subsequent formulations of Pinghuo tea standard decoction.

Objective:To investigate the characteristics of attention bias to aggressive information under self-threat priming in college students with different types of high self-esteem.Methods:A total of 650 college students were selected,and high self-esteem participants were selected through the Self Esteem Scale(SES).Then,43 partic-ipants were selected from different types of high self-esteem(fragile and safe)groups through the Implicit Associa-tion Test(IAT).Each group participated in Raven's Standard Progressive Matrices(SPM)with different difficulty levels to complete self-threat priming,and then completed the spatial cue experiment.When the cue was invalid,the attention bias was obtained according to the variation of the reaction time difference(RTI)between the subjects're-sponses to aggressive words and neutral words.Results:The RTI values of the fragile high self-esteem group were higher under high self-threat priming than that of the secure high self-esteem group(P＜0.01).Under low self-threat priming,there was no significant difference in RTI values among different types of high self-esteem groups(P＞0.05).Conclusion:Fragile high self-esteem group are more likely to develop attention bias towards aggressive words under high self-threat priming than that of secure high self-esteem group.

Objective:To explore the characteristics of eosinophilic granulomatous polyangiitis (EGPA) and provide a basis for clinical diagnosis and treatment.Methods:A retrospective analysis was conducted on the epidemiology, clinical manifestations, laboratory tests, imaging and pathological characteristics, and treatment outcomes of 15 cases of eosinophilic granulomatous vasculitis.Results:Fifteen patients with eosinophilic granulomatous vasculitis were aged (50.7±17.2)years old, with a median time of 182.5 days from onset to diagnosis. Thirteen patients presented with respiratory symptoms as the initial diagnosis, while the other two presented with skin and nervous system damage. These patients were all accompanied by an increase in peripheral blood eosinophils, fluctuating between 10.6% and 60.94%. Thirteen patients had respiratory symptoms, mainly cough, sputum production, shortness of breath, and varied chest computed tomography (CT) findings. Histopathology or alveolar lavage fluid also showed changes in eosinophil count.Conclusions:The clinical manifestations of eosinophilic granulomatous vasculitis are diverse, often involving the respiratory system, as well as multiple systems such as the circulatory system, digestive system, nervous system, urinary system, and skin. However, due to its frequent early manifestations of wheezing, it is often misdiagnosed as refractory asthma. Improving the understanding of eosinophilic granulomatous vasculitis and improving the level of early diagnosis can help improve the prognosis of patients.