This paper has summarized current studies on retinitis pigmentosa （RP） from two perspectives， which were disease mechanism insights from western medicine， and etiology， pathogenesis and therapeutic principles in traditional Chinese medicine （TCM）. From the perspective of western medicine， the understanding of RP has evolved from an early single-factor explanation focusing on pathogenic gene mutations to a more comprehensive， multifactorial model involving genetic abnormalities， photoreceptor cell degeneration， retinal pigment epithelium dysfunction， oxidative stress， inflammatory responses， microenvironmental imbalance， and vascular insufficiency. In TCM， RP is considered to be a disorder manifested in the eyes but rooted in dysfunction of the zang-fu （脏腑） organs. Its pathogenesis is primarily associated with congenital insufficiency， liver-kidney depletion， impaired spleen function of transportation and transformation， and stasis obstructing the meridians. The core pathological mechanism can be summarized as "deficiency complicated by stasis"， emphasizing holistic imbalance， dynamic disease progression， and syndrome differentiation and treatment. The differences and complementarities between the two medical systems in understanding disease progression are further discussed. RP is proposed to be more appropriately regarded as a complex disease characterized by long-term progression， stage-dependent evolution， and persistent decompensation. Western medicine contributes to elucidating the molecular mechanisms underlying RP and provides the foundation for targeted therapeutic interventions， whereas TCM offers a holistic perspective for understanding disease evolution through the assessment of overall functional status， disease-stage stratification， and long-term syndrome-based regulation.

This paper has summarized current studies on retinitis pigmentosa （RP） from two perspectives， which were disease mechanism insights from western medicine， and etiology， pathogenesis and therapeutic principles in traditional Chinese medicine （TCM）. From the perspective of western medicine， the understanding of RP has evolved from an early single-factor explanation focusing on pathogenic gene mutations to a more comprehensive， multifactorial model involving genetic abnormalities， photoreceptor cell degeneration， retinal pigment epithelium dysfunction， oxidative stress， inflammatory responses， microenvironmental imbalance， and vascular insufficiency. In TCM， RP is considered to be a disorder manifested in the eyes but rooted in dysfunction of the zang-fu （脏腑） organs. Its pathogenesis is primarily associated with congenital insufficiency， liver-kidney depletion， impaired spleen function of transportation and transformation， and stasis obstructing the meridians. The core pathological mechanism can be summarized as "deficiency complicated by stasis"， emphasizing holistic imbalance， dynamic disease progression， and syndrome differentiation and treatment. The differences and complementarities between the two medical systems in understanding disease progression are further discussed. RP is proposed to be more appropriately regarded as a complex disease characterized by long-term progression， stage-dependent evolution， and persistent decompensation. Western medicine contributes to elucidating the molecular mechanisms underlying RP and provides the foundation for targeted therapeutic interventions， whereas TCM offers a holistic perspective for understanding disease evolution through the assessment of overall functional status， disease-stage stratification， and long-term syndrome-based regulation.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

ObjectiveTo investigate the contamination status, transmission risk and drug resistance of Klebsiella pneumoniae (KP) on the object surfaces in the surrounding environment of hospitalized patients infected with carbapenem-resistant Klebsiella pneumoniae (CRKP) , so as to provide a scientific guidance for the prevention and control of healthcare-associated infection. MethodsSamples from the surfaces of objects in the surrounding environment of CRKP infected patients living in the intensive care unit (ICU) and hand specimens from healthcare workers were collected for KP isolation and identification, as well as drug susceptible test in a medical institution located in Minhang District, Shanghai from 2021 to 2023. Additionally, both univariate and multivariate logistic regression analyses were used to identify the influencing factors associated with KP contamination in the hospital environment. ResultsA total of 546 surface samples were collected from the surrounding environment objects of 15 patients infected with CRKP, with a KP detection rate of 6.59% (36/546).The KP detection rate in the ICU of general ward (10.22%) was higher than that in the ICU of emergency department (2.94%) (χ²=12.142, P<0.001). Moreover, the KP detection rate on the surfaces of patient-contacted items (15.66%) was higher than that on shared-use items (6.25%), cleaning items (10.00%), and medical supplies (3.30%) (χ²=17.943, P<0.001). Besides, the detection rate of KP in items sent out of hospital for disinfection (15.38%) was higher than that in those self-disinfected (4.20%) (χ²=19.996, P<0.001).The highest detection rate of KP was observed in high-temperature washing (15.13%, 18/119) (χ²=21.219, P<0.001), while the lowest detection rate was observed in antibacterial hand sanitizer with trichlorohydroxydiphenyl ether sanitizing factor (0, 0/60) ( χ²=21.219, P<0.001).The detection rate of KP in samples taken more than 24 hours after the last disinfection (23.08%) was higher than that in those taken at 4 to24 hours (12.90%) and less than 4 hours (4.22%) (χ²=23.398,P<0.001).ICU of general ward (OR=4.045, 95%CI: 2.206‒7.416), patient-contacted items (OR=3.113, 95%CI: 1.191‒8.141), and self-disinfection ( OR=0.241, 95%CI:0.144‒0.402) were influencing factors for KP contamination in environmental surface. From 2021 to 2023, the drug resistance rates of hospital environmental KP isolates showed an upward trend (P<0.001) to antibiotics such as ceftazidime and gentamicin. Furthermore, high drug resistance rates of KP (>90%) were observed to ciprofloxacin, levofloxacin, cefotaxime, ceftriaxone, and cefepime. ConclusionCRKP can be transmitted outward through the surfaces of objects in the patients’ surroundings, and the drug resistance situation is severe. In clinical settings, it is necessary to implement isolation measures for CRKP infection patients, to increase the frequency of disinfection for objects in their surroundings, to strengthen hand hygiene practices, and to use antibiotics appropriately.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Objective·To establish Downs cephalometric norms for the Han Chinese aged 18-25 with harmonious faces,and to analyze gender and regional characteristics.Methods·A stratified sampling approach was used to recruit participants from seven geographic regions across China.Over 30 000 volunteers were screened,and 883 participants with harmonious faces were ultimately included.Basic demographic data were collected,and lateral cephalometric radiographs were taken.Hard tissue measurements were performed with Downs analysis(using anatomical porion).The data were then statistically analyzed to compare gender and regional differences in dentofacial structures.Results·The gender differences in the four hard tissue measurements,the angle of convexity,A-B plane angle,mandibular plane angle,and occlusal plane angle,were statistically significant(P＜0.001).Females showed larger values for the angle of convexity,mandibular plane angle,and occlusal plane angle,but smaller values for the A-B plane angle,compared to males.The gender differences in the interincisal angle,L1 to occlusal plane,L1 to mandibular plane,and U1 to AP plane were not statistically significant.There were regional differences in all 10 measurements of Downs analysis,though some regions shared common features.Specifically,the northeastern,eastern,and southern coastal regions exhibited a smaller facial angle,and larger mandibular plane angle,angle of convexity,occlusal plane angle,and U1 to AP plane.It suggested that,compared to inland regions,individuals from coastal regions tended to have more retrusive chins,steeper mandibular planes,more prominent upper incisors,and more convex hard tissue profiles.Conclusion·Gender differences exist in the dentofacial hard tissue structures of Han Chinese adults with harmonious faces,primarily in skeletal measurements.Each region has its unique dentofacial characteristics,along with some common features.These differences should be taken into account in clinical diagnosis and treatment for the development of personalized and precise therapeutic strategies.

Background and Aims:Pancreatic cancer(PC)is a highly lethal malignancy with poor prognosis and limited early diagnostic tools.Although numerous serum metabolites have been associated with PC risk in observational studies,the causal nature of these associations remains uncertain.This study aimed to evaluate the genetic causal relationships between serum metabolites and PC risk,identify PC-related risk genes,and elucidate the gene-metabolite-PC causal network.Methods:Two-sample Mendelian randomization(TSMR)and summary-data-based Mendelian randomization(SMR)analyses were performed by integrating GWAS data of 325 serum metabolites,GTEx v8 pancreatic tissue eQTL data,and FinnGen R12 PC GWAS data.The study assessed causal effects of metabolites on PC risk,identified risk-associated genes,and explored the potential mediating role of metabolites between genes and PC.Results:Four serum metabolites showed significant causal relationships with PC risk.Elevated serum albumin(OR=1.456,P=0.003)and free cholesterol percentage in small high-density lipoprotein(HDL)(OR=1.189,P=0.005)were associated with increased PC risk,whereas higher phospholipid percentages in intermediate-density lipoprotein(IDL)and small HDL were protective(OR=0.792 and 0.836,respectively;both P<0.01).SMR analysis identified 196 PC-related genes,including risk genes such as DGKQ,CDC37P1,and SULT1A2,and protective genes such as PALMD and HEG1.Thirty-two significant gene-metabolite causal pairs were further confirmed,indicating potential mediation of PC genetic risk through specific metabolic pathways.Conclusion:This study systematically clarified the causal relationships between serum metabolites and pancreatic cancer risk and established a gene-metabolite regulatory network.The findings highlight the central role of lipid metabolism in PC development and provide molecular evidence for early detection and personalized prevention strategies.

Objective The aim of this study was to explore the acceptance and influencing factors of self-collected urine samples for human papillomavirus(HPV)testing in cervical cancer screening among eligible women,and to provide scientific evidence for promoting this testing in low resource areas.Methods A population-based cross-sectional study was conducted from 2022 to 2023 at the Maternal and Child Health Hospital in Shuangliu district,Chengdu City Sichuan Province.The study subjects were women aged 21 to 69 years old,and a customized questionnaire was used to conduct general information and acceptance surveys on the partic-ipants.Results A total of 2,062 women were included,with an average age of 51.58±9.34 years.Among them,1,501(72.79％)women believed that self-sampling urine was very easy.However,although 1,333(64.65％)women were still willing to accept doctor sampling as a cervical cancer screening method,only 729(35.35％)were more willing to accept self-sampling urine HPV testing.Age,educational level,annual household income,awareness of HPV,HPV vaccination status,and a sense of shame about the doctor's sampling process were all associated with the acceptance of self-collected urine HPV testing among women undergoing cervical cancer screening(P＜0.001).The results of multivariate logistic regression analysis indicated that older women(OR=0.965,95％CI:0.951-0.979)and those who were not familiar with HPV(OR=0.760,95％CI:0.602-0.961)were more likely to undergo self sampling urine HPV testing,while those with junior high school education(OR=1.330,95％CI:1.053-1.682),high school education or a-bove(OR=1.990,95％CI:1.401-2.827),and a sense of shame towards the doctor's sampling process(OR=2.314,95％CI:1.706-3.142)were more likely to undergo self sampling urine for HPV testing.Conclusions Most women believe that self sampling urine for HPV testing is very easy,but compared to doctor sampling,only some women choose to self sample urine for HPV testing.Key health education interventions should be carried out for older and lower educated populations to promote acceptance of urine HPV testing.