BACKGROUND: Generalized pustular psoriasis (GPP), a rare and recurrent autoinflammatory disease, imposes a substantial burden on patients and society. Awareness of GPP in China remains limited. METHODS: This cross-sectional survey, conducted between September 2021 and May 2023 across 14 hospitals in China, included GPP patients of all ages and disease phases. Data collected encompassed demographics, clinical characteristics, economic impact, disease severity, quality of life, and treatment-related complications. Risk factors for GPP recurrence were analyzed. RESULTS: Among 127 patients (female/male ratio = 1.35:1), the mean age of disease onset was 25 years (1st quartile [Q1]-3rd quartile [Q3]: 11-44 years); 29.2% had experienced GPP for more than 10 years. Recurrence occurred in 75.6% of patients, and nearly half reported no identifiable triggers. Younger age at disease onset ( P  = 0.021) and transitioning to plaque psoriasis ( P  = 0.022) were associated with higher recurrence rates. The median diagnostic delay was 8 months (Q1-Q3: 2-41 months), and 32.3% of patients reported misdiagnoses. Comorbidities were present in 53.5% of patients, whereas 51.1% experienced systemic complications during treatment. Depression and anxiety affected 84.5% and 95.6% of patients, respectively. During GPP flares, the median Dermatology Life Quality Index score was 19.0 (Q1-Q3: 13.0-23.5). This score showed significant differences between patients with and without systemic symptoms; it demonstrated correlations with both depression and anxiety scores. Treatment costs caused financial hardship in 55.9% of patients, underscoring the burden associated with GPP. CONCLUSIONS The substantial disease and economic burdens among Chinese GPP patients warrant increased attention. Patients with early onset disease and those transitioning to plaque psoriasis require targeted interventions to mitigate the high recurrence risk.
Humans ; Male ; Female ; Psoriasis/pathology* ; Adult ; Cross-Sectional Studies ; Adolescent ; Child ; Young Adult ; Quality of Life ; Middle Aged ; China/epidemiology* ; Recurrence ; Risk Factors ; Surveys and Questionnaires ; East Asian People

Crigler-Najjar syndrome (CNS) and Gilbert syndrome (GS; OMIM: 143500) are rare autosomal recessive diseases that cause unconjugated hyperbilirubinemia due to decreased UGT1A1 enzyme activity. Crigler-Najjar syndrome type 2 (CNS2; OMIM: 606785) increases the risk of gallbladder stone formation and cholecystitis, while GS seldom causes health issues. We found a 28-year-old male patient with recurring right upper abdomen pain who experienced persistent jaundice from birth. CNS2 with gallbladder stones and cholecystitis was diagnosed after genetic testing revealed rare double homozygous mutations A(TA)₇TAA (rs3064744) and P229Q (rs35350960) in the UGT1A1 gene. After pedigree investigation, we found that the patient's parents with modestly increased bilirubin had compound heterozygous mutations A(TA)₇TAA and P229Q, which were GS. Bioinformatics analysis showed that A(TA)₇TAA is in the TATA-box region of the gene UGT1A1 promoter, affecting gene transcriptional initiation, whereas P229Q modifies protein three-dimensional structure and may be harmful. In this pedigree, double homozygous mutations have a more severe phenotype than compound heterozygous mutations. Inherited causes of hyperbilirubinemia should be suspected after ruling out biliary obstruction, and early bilirubin reduction (< 103 µmol/L (6 mg/dL)) may reduce the risk of complications like cholecystitis in CNS2 patients, though further studies with longer follow-up are needed to confirm this observation.
Humans ; Male ; Glucuronosyltransferase/genetics* ; Adult ; Crigler-Najjar Syndrome/complications* ; Cholecystitis/etiology* ; Homozygote ; Mutation ; Pedigree

Purpose To observation the relationship be-tween the β-catenin/Slug signal specific inhibitor FH535 and EMT,and to explore the role of LPCAT1 in regulating the inva-sion,metastasis,and growth of cervical cancer cells.Methods Hela cells were transfected with sh-NC and sh-LPCAT1,and SiHa cells were transfected with Vector group and LPCAT1 over-expression plasmid.SiHa cells were divided into control group(Con),LPCAT1 group,LPCAT1+FH535 group and FH535 group.The proliferation of cervical cancer cells was detected by CCK-8 analysis and colony formation test.The metastasis and invasion ability of cervical cancer cells were detected by wound healing test and Transwell test.Western blot was used to analyze the expression of LPCAT1,β-catenin/Slug signaling pathway and EMT-related proteins in cells.Results Compared with Vector group,the cell viability,colony number,migration and invasion number of SiHa cells in LPCAT1 group increased signif-icantly(P＜0.05).Compared with sh-NC group,the cell via-bility,colony number,migration and invasion number of Hela cells in sh-LPCAT1 group decreased significantly(P＜0.05).Compared with LPCAT1 group,the levels of Wnt4(1.18±0.05 vs 0.80±0.06),β-catenin(1.05±0.08 vs 0.77±0.05),Slug(1.13±0.06 vs 0.28±0.02),Cyclin D1(0.99±0.06 vs 0.44±0.02),N-cadherin(0.91±0.07 vs 0.46±0.03)and vimentin(0.95±0.06 vs 0.49±0.03)in SiHa cells in LPCAT1+FH535 group decreased significantly(P＜0.05),and the level of E-cadherin(0.44±0.03 vs 0.58±0.03)in-creased significantly(P＜0.05).In addition,compared with LPCAT1 group,the number of colonies(224±15 vs 146±11),migration(85±3vs51±4)and invasive(166±10 vs 90±5)cells of SiHa cells in LPCAT1+FH535 group decreased signifi-cantly(P＜0.05).Conclusion The increase of LPCAT1 ex-pression may promote the metastasis and progress of CC by acti-vating β-catenin/Slug signaling pathway,and LPCAT1 may be a potential marker for predicting CC metastasis.

Objective To develop a health-promoting lifestyle scale for women with polycystic ovary syndrome(PCOS),and to test its reliability and validity,and preliminarily apply it.Methods Based on the Pender health promotion model,the item pool of the scale was constructed through literature research,semi-structured interviews and group discussions.After 2 rounds of Delphi expert consultation and pre-survey,the initial scale was formed.From April to July 2022,316 patients with PCOS in the health management center,reproductive medicine center and endocrinology department of a tertiary hospital in Nanjing were selected for item analysis,exploratory factor analysis and reliability test,respectively.From August to October 2022,358 PCOS patients were selected for confirmatory factor analysis.From November 2022 to February 2013,294 PCOS patients were selected,and the scale was used to investigate the status of health-promoting lifestyle in PCOS patients.Results The health-promoting lifestyle scale for PCOS patients included 5 dimensions and 33 items.The total content validity index of the scale was 0.942,and the content validity index of each item was 0.810-1.000.5 common factors were extracted by 2 exploratory factor analyses,and the cumulative variance contribution rate was 62.399％.Confirmatory factor analysis showed that the model fit was good.The Cronbach's a coefficient of the total scale was 0.930;the split-half reliability was 0.842;the test-retest reliability was 0.888.The preliminary application results showed that the total score of health-promoting lifestyle in PCOS patients was(96.925±14.273),and the average score of items was(2.937±0.433),which was at a medium level.Conclusion The health-promoting lifestyle scale for PCOS patients has good reliability and validity,which can be used as a tool for medical staff to assess the level of health-promoting lifestyle of PCOS patients,and can help nurses to quickly identify the level and dimensions of health-promoting lifestyle of patients,so as to formulate individualized precise health management plans.

Threatened abortion is a common disease of obstetrics and gynecology and one of the diseases responding specifically to traditional Chinese medicine （TCM）. The China Association of Chinese Medicine organized experts in TCM obstetrics and gynecology， Western medicine obstetrics and gynecology， and pharmacology to deeply discuss the advantages of TCM and integrated Chinese and Western medicine treatment as well as the medication plans for threatened abortion. After discussion， the experts concluded that chromosome， endocrine， and immune abnormalities were the key factors for the occurrence of threatened abortion， and the Qi and blood disorders in thoroughfare and conception vessels were the core pathogenesis. In the treatment of threatened abortion， TCM has advantages in preventing miscarriages， alleviating clinical symptoms and TCM syndromes， relieving anxiety， regulating reproductive endocrine and immune abnormalities， personalized and diversified treatment， enhancing efficiency and reducing toxicity， and preventing the disease before occurrence. The difficulty in diagnosis and treatment of threatened abortion with traditional Chinese and Western medicine lies in identifying the predictors of abortion caused by maternal factors and the treatment of thrombophilia. Recurrent abortion is the breakthrough point of treatment with integrated traditional Chinese and Western medicine. It is urgent to carry out high-quality evidence-based medicine research in the future to improve the modern diagnosis and treatment of threatened abortion with TCM.

BACKGROUND:Research has shown that fatty acid metabolism genes are closely related to the development of rheumatoid arthritis.Therefore,exploring the progression of rheumatoid arthritis based on fatty acid metabolism genes is of clinical significance. OBJECTIVE:To investigate whether fatty acid metabolism genes can serve as reliable biomarkers for predicting the progression of rheumatoid arthritis. METHODS:Gene data related to synovial tissue were downloaded from the Gene Expression Comprehensive Database(GEO).STRING was used to construct the protein-protein interaction network analysis.Cytoscape was utilized for biological annotation(gene ontology)and signaling pathway enrichment analysis(Kyoto Encyclopedia of Genes and Genomes).Fatty acid metabolism related genes were screened from the molecular feature database(MSigDB).Least absolute shrinkage and selection operator and support vector machine recursive feature elimination feature were used to screen for potential biomarkers.Immune cell infiltration levels in normal individuals and rheumatoid arthritis patients were assessed using the CIBERSORT algorithm.Finally,the expression levels of fatty acid metabolism related genes were verified using the receiver operating characteristic curve in GSE77298. RESULTS AND CONCLUSION:361 differentially expressed genes in rheumatoid arthritis were identified,of which 13 overlapped with the reported fatty acid metabolism related genes.Based on machine learning algorithms,five genes were selected,and the receiver operating characteristic curve showed that five genes(PCK1,PDK1,PTGS2,PLA2G2D,and DPEP2)could predict the development of rheumatoid arthritis.The CIBERSORT algorithm results showed that five genes were associated with activated mast cells,neutrophils,resting mast cells,and memory resting CD4+ T cells.The receiver operating characteristic curve showed that PLA2G2D and PCK1 have high diagnostic value.To conclude,the expression characteristics of fatty acid metabolism related genes can serve as potential biomarkers for predicting clinical outcomes,which can further improve the accuracy of prediction in RA patients.

Objective:To investigate whether long non-coding RNA(lncRNA) AW112010 can improve insulin resistance in aging adipocytes through the miR-204/POU2F2 signaling pathway.Methods:In vivo experiment: C57BL/6 mice were divided into young control group(4 months old) and aging model group(18 months old) based on body weight. The expression levels of AW112010, miR-204-5p, POU2F2, aging related indicators(p16, p21), and insulin signaling pathway genes [insulin receptor(INSR), insulin receptor substrate 1(IRS1), phosphatidylinositol kinase(PI3K), protein kinase B(AKT)] in epididymal adipose tissue were detected using real-time fluorescence quantitative PCR(RT-qPCR) and Western blotting. In vitro experiment: Using adriamycin(ADR) to induce 3T3-L1 aging adipocyte model, β-gal staining was used to observe cellular senescence, and miR-204 inhibitor and miR-204 mimic small interfering RNA were successfully constructed and transfected into 3T3-L1 adipocytes. Results:RT-qPCR and Western blot results showed that compared with the young group, the expression of AW112010 in the adipose tissue of aging mice was increased, while the expression of miR-204-5p was decreased. The expressions of POU2F2, p16, and p21 in the adipose tissue of aging mice were increased, while the expressions of INSR, IRS1, PI3K, GLUT4 mRNA and protein were decreased. The β-gal stainging results showed that the number of 3T3-L1 senescent adipocytes induced by ADR was significantly increased, and the expression levels of AW112010, POU2F2, p16, and p21 in ADR-induced senescent adipocytes were increased compared with the control group, while the expression levels of miR-204-5p, INSR, IRS1, PI3K, GLUT4 were decreased, and remaining glucose in the culture medium was increased. Compared with control, overexpression of miR-204 resulted in decreased expressions of aging indicators p16, p21, and target gene POU2F2 while the expressions of INSR and GLUT4 were increased.Conclusion:Upregulation of lncRNA AW112010 in adipocytes of aging mice may induce insulin resistance by targeting miR-204-5p/POU2F2/IRS1.

Objective To analyze the metabolic changes of myocardial tissue in rats under acute exposure to macleaya cordata by gas chromatography mass spectrometry(GC-MS),explore forensic identifications of its characteristic metabolites,and verify its toxicological mechanism in poisoning cases.Methods The rats in the exposure group were given 382 mg/kg macleaya extract solution by gavage,and the rats in the control group were given the same dose of solvent.The myocardial samples were analyzed by GC-MS,and pattern recognition was conducted through partial least squares discriminant analysis(PLSDA).The differential metabolites with characteristic changes were identified by variable importance projection(VIP value＞1)and Student's t test(P＜0.01).Results Compared with the control group,21 potential characteristic metabolites were identified.Through KEGG pathway enrichment analysis,it was found that these metabolites were mainly involved in the pathways of glycine,serine and threonine metabolism;pyruvate metabolism and glycerolipid metabolism.Conclusion Through the study of myocardial metabolism in rats exposed to macleaya cordata,we found the information on metabolites closely related to poisoning,which provides new insight and reference for studies on the mechanisms of macleaya cordata poisoning in the field of forensic medicine.

BackgroundSibling relationships play a critical role in shaping anxiety symptoms in firstborn children. Anxiety symptoms often originate in early childhood and can persist into adolescence and adulthood. However， there is insufficient research on anxiety symptoms in preschool children， especially firstborn preschool children. ObjectiveTo explore the influencing factors of anxiety symptoms among firstborn preschool children， so as to provide references for the intervention of anxiety symptom for children in families with multiple children. MethodsFrom October to December 2021， a total of 8 449 children from 234 kindergartens in Longhua District of Shenzhen were included using a cluster sampling method. Sibling Inventory of Behavior （SIB） and Spence Preschool Anxiety Scale （SPAS） were used to investigate. Logistic regression analysis was used to identify influencing factors of anxiety symptoms in firstborn preschool children. ResultsA total of 8 419 （99.64%） valid questionnaires were collected. Anxiety symptoms were detected in 344（4.09%） firstborn preschool children. Statistically significant differences were observed between anxiety group and non-anxiety group in terms of household registration， monthly family income， maternal age， maternal education level， paternal education level， family living conditions and whether they are left-behind children （χ²/t=9.906， 33.490， 5.136， 13.485， 9.690， 17.332， 21.975， P<0.05 or 0.01）. Compared with non-anxiety group， children in the anxiety group scored higher on the SIB dimensions of rivalry， aggression and avoidance （t=165.322， 74.471， 286.419， P<0.01）， and lower on companionship， empathy and teaching （t=59.133， 42.417， 39.112， P<0.01）. Risk factors for anxiety symptoms in firstborn preschool children included left-behind children， as well as negative sibling relationships characterized by rivalry and avoidance （OR=1.195， 1.143， 1.260， P<0.05 or 0.01）. ConclusionFirstborn preschool children who are left-behind are more susceptible to anxiety symptoms. Negative sibling relationships， characterized by competition and avoidance， may also contribute to the emergence of anxiety symptoms in firstborn preschool children.

In order to help medical institutions use and manage lead protective equipment in a scientific and standardized manner and promote the occupational safety and health of medical personnel,this《Expert consensus on the application and management of ionizing radiation lead protective equipment》(hereinafter referred to as"the consensus")is formulated.The consensus is formulated through conducting systematic literature search as well as through integrating the opinions of domestic experts in various fields after two rounds of letter inquiry.The consensus provides professional guidance in four aspects,including the selection,configuration,cleaning and maintenance,and inspection of appliances,aiming to provide clinical reference for the majority of medical workers engaged in interventional radiology.