Objective:To summarize the clinical and genetic characteristics of late-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) patients, and to compare the differences between late-onset and classic-onset FSHD1 patients.Methods:A retrospective analysis was conducted on the clinical and genetic data of genetically confirmed late-onset FSHD1 patients (age at onset30 years) between January 2007 and June 2024 from the Department of Neurology of Peking University First Hospital and the First Affiliated Hospital of Fujian Medical University. Classic-onset FSHD1 patients (10 yearsage at onset≤30 years) were matched 1∶1 according to sex and disease duration for comparison. The demographic information, the number of D4Z4 repeat units, the distal D4Z4 methylation levels, FSHD Clinical Score (CS), Clinical Severity Score (CSS), and Age-Corrected Clinical Severity Score (ACSS) of these patients were collected. Survival analysis was performed to compare the outcome of lower extremity involvement between late-onset and classic-onset FSHD1 patients. The correlation of the number of D4Z4 repeat units and D4Z4 methylation level with CS and ACSS was analyzed in late-onset FSHD1 patients.Results:A total of 61 patients with late-onset FSHD1 were enrolled, 33 (54.1%) of whom are female, with an age of 54.0 (46.0, 62.0) years and a disease duration of 14.0 (5.5, 22.5) years. Compared to classic-onset FSHD1 patients, late-onset patients exhibited significantly lower CS [7.0 (5.6, 8.4) vs 6.0 (4.4, 7.7), U=1 416.000, P=0.013], CSS [3.0 (2.8, 3.3) vs 3.0 (2.0, 4.0), U=2 352.000, P=0.010], and ACSS [189.2 (137.1, 241.3) vs 96.8 (61.3, 132.2), U=3 225.500, P0.001], and higher proportion of patients with limb girdle involvement but no facial muscle involvement [18.0% (11/61) vs 6.6% (4/61), χ2=3.725, P=0.054]. Kaplan-Meier survival analysis showed that the onset age of lower extremity involvement in late-onset patients (45 years, 95% CI 42-48 years) was significantly higher than that in classic-onset patients (24 years, 95% CI 21-27 years, χ2=61.012, P0.001). The duration from symptom onset to lower extremity involvement in late-onset patients (15 years, 95% CI 10-20 years) was significantly longer than that in classic-onset patients (8 years, 95% CI 3-13 years, χ2=9.105, P=0.003). Late-onset FSHD1 patients carried higher average distal D4Z4 methylation levels compared to those with classic-onset FSHD1 [46.68% (40.79%,52.57%) vs 41.02% (34.03%,48.00%), U=1 378.500, P=0.014]. Among late-onset FSHD1 patients, cytosine-phosphate-guanine 6 (CpG6) methylation levels were significantly negatively correlated with ACSS ( r=-0.278, P=0.025); the number of D4Z4 repeat units were significantly negatively correlated with ACSS ( r=-0.272, P=0.034);CpG6 methylation levels were significantly negatively correlated with CS ( r=-0.441, P=0.003), while no correlation was found between number of D4Z4 repeat units and CS ( r=-0.161, P=0.310). Conclusions:Compared with classic-onset FSHD1 patients, late-onset FSHD1 patients are associated with a higher degree of distal D4Z4 methylation, along with a milder muscle weakness phenotype, slower disease progression and a higher proportion of cases without facial muscle involvement. The age at onset can be used as a marker of the severity and prognosis in FSHD1.

Objective:To explore the influencing factors of dietary habits on the progression from prediabetes to type 2 diabetes mellitus(T2DM)in elderly individuals undergoing health check-ups.Methods:In the cross-sectional study, we enrolled individuals aged 60-70 years with fasting plasma glucose (FPG)≥6.0 mmol/L who underwent health examinations at the Health Management Medical Center of Wenjiang District People's Hospital in Chengdu from 2019 to 2022.Demographic characteristics, dietary habit questionnaires, and FPG values were collected.Unconditional binary logistic regression analysis was used to identify factors influencing the natural progression from prediabetes to T2DM.A nomogram prediction model was established based on logistic regression results, and its predictive performance was evaluated by calculating the C-statistics and drawing a calibration curve.Results:A total of 13 681 elderly participants with FPG ≥6.0 mmol/L were included, comprising 4 306(31.5%)prediabetes cases(FPG 6.0-7.0 mmol/L), aged(63.54±16.49)years and 9 375(68.5%)T2DM cases(FPG>7.0 mmol/L), aged(63.09±16.21)years.Unconditional binary logistic regression analysis showed that frequent breakfast( OR=0.777, 95% CI: 0.696-0.868, P<0.001), dietary preference for light diet( OR=0.781, 95% CI: 0.710-0.858, P<0.001), salty taste( OR=0.571, 95% CI: 0.504-0.648, P<0.001), raw food( OR=0.327, 95% CI: 0.224-0.478, P<0.001)and spicy taste( OR=0.124, 95% CI: 0.112-0.137, P<0.001)were the protective factors for the conversion of prediabetes to the T2DM stage in the elderly physical examination population.While fast eating rate( OR=4.327, 95% CI: 3.978-4.772, P<0.001), dietary preference for sweets( OR=5.168, 95% CI: 4.703-5.678, P<0.001), and high-fat diet( OR=1.401, 95% CI: 1.275-1.539, P<0.001)were risk factors for conversion of prediabetes to T2DM stage.C-statistic of the Nomogram prediction model was 0.781; the goodness-of-fit test of the calibration curve was χ2=11.258, P=0.188, and the model predicted well. Conclusions:Regular breakfast, light diet, and dietary preferences for salty, raw, and spicy foods were protective factors for the transition from prediabetes to T2DM stage, whereas rapid eating rate, preference for sweets, and high-fat diets were risk factors for the transition from prediabetes to T2DM stage in the medical examination population.The constructed risk prediction model helped to find out the magnitude of the risk of T2DM in an individual, which increases the evidence for the transition from prediabetes to T2DM stage prevention evidence.

Objective To understand the changing composition and antibiotic resistance of bacterial species in the clinical isolates from outpatient and emergency department(hereinafter referred to as outpatients)and inpatient children over time in various hospitals,and to provide laboratory evidence for rational antibiotic use.Methods The data on clinically isolated pathogenic bacteria and antimicrobial susceptibility of isolates from outpatients and inpatient children in the CHINET program from 2015 to 2021 were collected and analyzed.Results A total of 278 471 isolates were isolated from pediatric patients in the CHINET program from 2015 to 2021.About 17.1％of the strains were isolated from outpatients,primarily group A β-hemolytic Streptococcus,Escherichia coli,and Staphylococcus aureus.Most of the strains(82.9％)were isolated from inpatients,mainly SS.aureus,E.coli,and H.influenzae.The prevalence of methicillin-resistant S.aureus(MRSA)in outpatients(24.5％)was lower than that in inpatient children(31.5％).The MRSA isolates from outpatients showed lower resistance rates to the antibiotics tested than the strains isolated from inpatient children.The prevalence of vancomycin-resistant Enterococcus faecalis or E.faecium and penicillin-resistant S.pneumoniae was low in either outpatients or inpatient children.S.pneumoniae,β-hemolytic Streptococcus and S.viridans showed high resistance rates to erythromycin.The prevalence of erythromycin-resistant group A β-hemolytic Streptococcus was higher in outpatients than that in inpatient children.The prevalence of β-lactamase-producing H.influenzae showed an overall upward trend in children,but lower in outpatients(45.1％)than in inpatient children(59.4％).The prevalence of carbapenem-resistant Klebsiella pneumoniae(CRKpn),carbapenem-resistant Pseudomonas aeruginosa(CRPae)and carbapenem-resistant Acinetobacter baumannii(CRAba)was 14％,11.7％,47.8％in outpatients,but 24.2％,20.6％,and 52.8％in inpatient children,respectively.The prevalence of multidrug-resistant E.coli,K.pneumoniae,Proteus mirabilis,P.aeruginosa and A.baumannii strains was lower in outpatients than in inpatient children.The prevalence of fluoroquinolone-resistant E.coli,ESBLs-producing K.pneumoniae,ESBLs-producing P.mirabilis,carbapenem-resistant E.coli(CREco),CRKpn,and CRPae was lower in children in outpatients than in inpatient children,but the prevalence of CRAba in 2021 was higher than in inpatient children.Conclusions The distribution of clinical isolates from children is different between outpatients and inpatients.The prevalence of MRSA,ESBL,and CRO was higher in inpatient children than in outpatients.Antibiotics should be used rationally in clinical practice based on etiological diagnosis and antimicrobial susceptibility test results.Ongoing antimicrobial resistance surveillance and prevention and control of hospital infections are crucial to curbing bacterial resistance.

Objective To investigate the changing antibiotic resistance profiles of E.coli isolated from patients in the 52 hospitals participating in the CHINET program from 2015 to 2021.Methods Antimicrobial susceptibility was tested for clinical isolates of E.coli according to the unified protocol of CHINET program.WHONET 5.6 and SPSS 20.0 software were used for data analysis.Results Atotal of 289 760 nonduplicate clinical strains ofE.coli were isolated from 2015 to 2021,mainly from urine samples(44.7±3.2)％.The proportion of E.coli strains isolated from urine samples was higher in females than in males(59.0％vs 29.5％).The proportion of E.coli strains isolated from respiratory tract and cerebrospinal fluid samples was significantly higher in children than in adults(16.7％vs 7.8％,0.8％vs 0.1％,both P＜0.05).The isolates from internal medicine department accounted for the largest proportion(28.9±2.8)％with an increasing trend over years.Overall,the prevalence of ESBLs-producing E.coli and carbapenem resistant E.coli(CREco)was 55.9％and 1.8％,respectively during the 7-year period.The prevalence of ESBLs-producing E.coli was the highest in tertiary hospitals each year from 2015 to 2021 compared to secondary hospitals.The prevalence of CREco was higher in children's hospitals compared to secondary and tertiary hospitals each year from 2015 to 2021.The prevalence of ESBLs-producing E.coli in tertiary hospitals and children's hospitals and the prevalence of CREco in children's hospitals showed a decreasing trend over the 7-year period.The prevalence of CREco in secondary and tertiary hospitals increased slowly.Antibiotic resistance rates changed slowly from 2015 to 2021.Carbapenem drugs(imipenem,meropenem)were the most active drugs amongβ-lactams against E.coli(resistance rate≤2.1％).The resistance rates of E.coli to β-lactam/β-lactam inhibitor combinations(piperacillin-tazobactam,cefoperazone-sulbactam),aminoglycosides(amikacin),nitrofurantoin and fosfomycin(for urinary isolates only)were all less than 10％.The resistance rate of E.coli strains to antibiotics varied with the level of hospitals and the departments where the strains were isolated,especially for cefazolin and ciprofloxacin,to which the resistance rate of E.coli strains from children in non-ICU departments was significantly lower than that of the strains isolated from other departments(P＜0.05).The E.coli isolates from ICU showed higher resistance rate to most antimicrobial agents tested(excluding tigecycline)than the strains isolated from other departments.The E.coli strains isolated from tertiary hospitals showed higher resistance rates to the antimicrobial agents tested(excluding tigecycline,polymyxin B,cefepime and carbapenems)than the strains from secondary hospitals and children's hospitals.Conclusions E.coli is an important pathogen causing clinical infection.More than half of the clinical isolates produced ESBL.The prevalence of CREco is increasing in secondary and tertiary hospitals over the 7-year period even though the overall prevalence is still low.This is an issue of concern.

Objective:To analyze the clinical features of nasal pleomorphic adenoma and to share clinical insights into its diagnosis and treatment.Methods:This was a case series study. Clinical data of 12 patients with nasal pleomorphic adenoma, confirmed by histopathology, admitted to the Department of Otorhinolaryngology Head and Neck Surgery, Affiliated Hospital of Qingdao University from 2014 to 2023, were retrospectively analyzed. This cohort included 3 males and 9 females, aged 12-84 years old. The pathogenesis, clinical manifestations, imaging features, pathological features, treatment methods and prognosis were analyzed.Results:Among the 12 patients with nasal pleomorphic adenoma, the most common symptom was nasal obstruction (8 cases), and the most common site was nasal septum (7 cases). Of the 12 patients, 9 had benign tumors, and 3 had malignant tumors. Postoperative follow-up ranged from 10 months to 9 years. One benign case recurred at 5 years after surgery and was left untreated after recurrence. The remaining 11 cases had shown no recurrence to date.Conclusions:Nasal pleomorphic adenoma is rare in clinical practice, typically occurring in the nasal septum. The primary symptom is nasal obstruction. Diagnosis is primarily based on histopathology, and surgical resection is the primary treatment.

Objective To investigate the effects of Phellinus baumii polyphenol(PBP)on head and neck squamous cell carcinoma(HNSCC)and analyze the potential mechanism based on network pharmacology and in vitro experiments.Methods Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform(TCMSP),DrugBank,GeneCards,Comparative Toxicogenomics Database(CTD)and Online Mendelian Inheritance in Man(OMIM)database were used to screen the active components of PBP and potential targets of PBP on HNSCC.The potential target interaction network was constructed using String database,and the core targets were screened by two-step topology analysis.Enrichment analysis of potential targets was performed using the DAVID database.Human HNSCC cell lines SCC-15 and SCC-25 were cultured in vitro using PBP intervention of 0,25,50 mg/L,respectively.The cell proliferation and colony formation ability were detected by cell counting reagent(CCK-8)and colony formation assay.Western blot assay was used to detect the expression of PBP core target protein in 2 cell lines.Results A total of 280 targets were identified for 17 active components of PBP,264 of which were HNSCC-related genes.Two-step topology analysis showed that hypoxia inducible factor 1 subunit alpha(HIF1A),tumor protein p53(TP53),AKT serine/threonine kinase 1(AKT1),signal transducer and activator of transcription 3(STAT3),cyclin A2(CCNA2)and JUN proto-oncogene(JUN)were the core targets.The enrichment results suggested that PBP may play a role in HNSCC through various pathways.In vitro experiment results showed that with the increase of PBP intervention concentration,the proliferation ability and colony formation ability of SCC-15 and SCC-25 cells were significantly decreased(P＜0.05),while the protein expression levels of STAT3,AKT1 and CCNA2 were decreased(P＜0.05).Conclusion PBP can inhibit the progression of HNSCC by multi-target and multi-pathway.

Objective Observe the tongue and pulse characteristics of PCOS patients with phlegm-damp syndrome,explore a model for identifying PCOS patients with phlegm-damp syndrome,and provide certain objective tongue and pulse diagnostic indicators with TCM characteristics for clinical treatment.Methods A total of 172 medics were recruited from the Affiliated Shuguang Hospital of Shanghai University of Traditional Chinese Medicine,the Shanghai Hospital of Traditional Chinese Medicine,and Shanghai University of Traditional Chinese Medicine.Including PCOS group(including 68 cases with phlegm-damp syndrome and 38 cases without phlegm-damp syndrome),postmenstrual period group(35 with phlegm-damp syndrome),and normal control group with phlegm-damp syndrome(31).The Smart TCM-Ⅰ type of TCM physiological information analysis system was used to collect tongue image information(including parameters of tongue color and tongue coating)and pulse image information(including amplitude and time domain parameters of pulse wave).Results Comparison of tongue parameters showed that compared to the menstrual late phase group with phlegm-damp syndrome,the PCOS group with phlegm-damp syndrome showed significantly higher levels of TC H,TC TIP G,TC TIP B,and TC TIP H,but lower TC TIP S;Compared to the control group with phlegm-damp syndrome,the PCOS group with phlegm-damp syndrome exhibited significantly lower levels of TC ROOT R,TC ROOT V,CC R,CC G,CC B,CC V,CC MID R and CC MID V;Compared to the control group with phlegm-damp syndrome,the menstrual late phase group with phlegm-damps syndrome showed significantly lower levels of TC H,TC R,TC B,TC G,TC V,TC MID H,TC TIP G,TC TIP B,CC R,CC H,CC V,and CC MID H,but higher TC TIP S.The above differences were all significant(P<0.05).Comparison of pulse wave parameters showed that compared with the normal group,the PCOS group showed increased values in H4/H1 L、T4/T L、W1/T L、H2/H1 R、H4/H1 R、W1/T R、H2/H1 L,and T1/T L,while T5/T4 L was decreased;In the menstrual late-phase group,H4/H1 L、H5/H1 L、W1/T L、W1/T R、H2/H1 L、T1/T L、T4/T L、T1/T4 L、H2/H1 R,and H4/H1 R were higher,whereas T5/T4 L were lower.The above differences were all statistically significant(P<0.05).The nomogram diagnostic model for phlegm-damp syndrome of PCOS was established by combining tongue and pulse diagnosis parameters.And the model had a certain reliability.Conclusion The certain objective parameters of tongue and pulse diagnosis can help predict to a certain extent the phlegm-damp syndrome of PCOS,postmenstrual period,and normal control group with phlegm-damp syndrome and non-phlegm-dampness syndrome of PCOS.

Objective To understand the changing composition and antibiotic resistance of bacterial species in the clinical isolates from outpatient and emergency department(hereinafter referred to as outpatients)and inpatient children over time in various hospitals,and to provide laboratory evidence for rational antibiotic use.Methods The data on clinically isolated pathogenic bacteria and antimicrobial susceptibility of isolates from outpatients and inpatient children in the CHINET program from 2015 to 2021 were collected and analyzed.Results A total of 278 471 isolates were isolated from pediatric patients in the CHINET program from 2015 to 2021.About 17.1％of the strains were isolated from outpatients,primarily group A β-hemolytic Streptococcus,Escherichia coli,and Staphylococcus aureus.Most of the strains(82.9％)were isolated from inpatients,mainly SS.aureus,E.coli,and H.influenzae.The prevalence of methicillin-resistant S.aureus(MRSA)in outpatients(24.5％)was lower than that in inpatient children(31.5％).The MRSA isolates from outpatients showed lower resistance rates to the antibiotics tested than the strains isolated from inpatient children.The prevalence of vancomycin-resistant Enterococcus faecalis or E.faecium and penicillin-resistant S.pneumoniae was low in either outpatients or inpatient children.S.pneumoniae,β-hemolytic Streptococcus and S.viridans showed high resistance rates to erythromycin.The prevalence of erythromycin-resistant group A β-hemolytic Streptococcus was higher in outpatients than that in inpatient children.The prevalence of β-lactamase-producing H.influenzae showed an overall upward trend in children,but lower in outpatients(45.1％)than in inpatient children(59.4％).The prevalence of carbapenem-resistant Klebsiella pneumoniae(CRKpn),carbapenem-resistant Pseudomonas aeruginosa(CRPae)and carbapenem-resistant Acinetobacter baumannii(CRAba)was 14％,11.7％,47.8％in outpatients,but 24.2％,20.6％,and 52.8％in inpatient children,respectively.The prevalence of multidrug-resistant E.coli,K.pneumoniae,Proteus mirabilis,P.aeruginosa and A.baumannii strains was lower in outpatients than in inpatient children.The prevalence of fluoroquinolone-resistant E.coli,ESBLs-producing K.pneumoniae,ESBLs-producing P.mirabilis,carbapenem-resistant E.coli(CREco),CRKpn,and CRPae was lower in children in outpatients than in inpatient children,but the prevalence of CRAba in 2021 was higher than in inpatient children.Conclusions The distribution of clinical isolates from children is different between outpatients and inpatients.The prevalence of MRSA,ESBL,and CRO was higher in inpatient children than in outpatients.Antibiotics should be used rationally in clinical practice based on etiological diagnosis and antimicrobial susceptibility test results.Ongoing antimicrobial resistance surveillance and prevention and control of hospital infections are crucial to curbing bacterial resistance.

Objective To investigate the changing antibiotic resistance profiles of E.coli isolated from patients in the 52 hospitals participating in the CHINET program from 2015 to 2021.Methods Antimicrobial susceptibility was tested for clinical isolates of E.coli according to the unified protocol of CHINET program.WHONET 5.6 and SPSS 20.0 software were used for data analysis.Results Atotal of 289 760 nonduplicate clinical strains ofE.coli were isolated from 2015 to 2021,mainly from urine samples(44.7±3.2)％.The proportion of E.coli strains isolated from urine samples was higher in females than in males(59.0％vs 29.5％).The proportion of E.coli strains isolated from respiratory tract and cerebrospinal fluid samples was significantly higher in children than in adults(16.7％vs 7.8％,0.8％vs 0.1％,both P＜0.05).The isolates from internal medicine department accounted for the largest proportion(28.9±2.8)％with an increasing trend over years.Overall,the prevalence of ESBLs-producing E.coli and carbapenem resistant E.coli(CREco)was 55.9％and 1.8％,respectively during the 7-year period.The prevalence of ESBLs-producing E.coli was the highest in tertiary hospitals each year from 2015 to 2021 compared to secondary hospitals.The prevalence of CREco was higher in children's hospitals compared to secondary and tertiary hospitals each year from 2015 to 2021.The prevalence of ESBLs-producing E.coli in tertiary hospitals and children's hospitals and the prevalence of CREco in children's hospitals showed a decreasing trend over the 7-year period.The prevalence of CREco in secondary and tertiary hospitals increased slowly.Antibiotic resistance rates changed slowly from 2015 to 2021.Carbapenem drugs(imipenem,meropenem)were the most active drugs amongβ-lactams against E.coli(resistance rate≤2.1％).The resistance rates of E.coli to β-lactam/β-lactam inhibitor combinations(piperacillin-tazobactam,cefoperazone-sulbactam),aminoglycosides(amikacin),nitrofurantoin and fosfomycin(for urinary isolates only)were all less than 10％.The resistance rate of E.coli strains to antibiotics varied with the level of hospitals and the departments where the strains were isolated,especially for cefazolin and ciprofloxacin,to which the resistance rate of E.coli strains from children in non-ICU departments was significantly lower than that of the strains isolated from other departments(P＜0.05).The E.coli isolates from ICU showed higher resistance rate to most antimicrobial agents tested(excluding tigecycline)than the strains isolated from other departments.The E.coli strains isolated from tertiary hospitals showed higher resistance rates to the antimicrobial agents tested(excluding tigecycline,polymyxin B,cefepime and carbapenems)than the strains from secondary hospitals and children's hospitals.Conclusions E.coli is an important pathogen causing clinical infection.More than half of the clinical isolates produced ESBL.The prevalence of CREco is increasing in secondary and tertiary hospitals over the 7-year period even though the overall prevalence is still low.This is an issue of concern.