Objective:To explore the clinical and genetic characteristics of dyskeratosis congenita (DC).Methods:A retrospective analysis was conducted on the clinical, laboratory, imaging, pathological, genetic, and treatment data of 6 DC patients diagnosed at the Children′s Hospital of Zhejiang University School of Medicine from January 2010 to June 2025.Results:Among the 6 DC patients, 1 case was of Hoyeraal-Hreidarsson syndrome, 4 were male, and 2 were female. The diagnosis age 0.9-6.1 years. All 6 cases presented with bone marrow failure; 5 cases had a classic triad of skin and mucous membrane (mucosal leukoplakia, abnormal skin pigmentation, nail dystrophy); 5 cases had growth retardation, among which 2 cases had intrauterine growth retardation. Two cases had diarrhea and 1 case had abnormal liver function; 1 case had stiff and deformed limbs, accompanied by limited mobility, and dry and obstructive balanitis; 1 case had recurrent eyelid inflammation, middle ear inflammation, and nasal inflammation. All 6 cases had decreased B cell numbers, and 4 cases also had decreased natural killer cell numbers. There were 3 cases of children with cytomegalovirus (CMV) infection, of which 1 case of CMV infection led to retinal frosted branch angiitis and subsequent intracranial CMV infection resulting in death, and 1 case had CMV enteritis and died of hemophagocytic syndrome. Among 4 cases of boys, 3 cases had DKC1 gene variations and 1 case had an unknown variation gene; 2 cases of girls had TINF2 gene variations. The TINF2 c.860T>A (p.L287Q) variation site was a new mutation. Among 6 patients with DC, 2 cases died, 3 cases survived and 1 case was lost to follow-up.Conclusions:The DKC1 and TINF2 genes are common pathogenic genes in patients with DC. Bone marrow failure is a clue for the early identification of DC. The triad of skin and mucous membrane is its typical clinical manifestation. Children with DC generally have reduced B cells and natural killer killer cells, and have a high risk of fatal CMV infection. The overall prognosis is poor.

ObjectiveTo construct a comprehensive evaluation indicator system for clinical practice guidelines of traditional Chinese medicine （TCM） that is scientific， systematic， and reflects the characteristics of TCM. MethodsA systematic search was conducted in Chinese and English databases， including CNKI， Wanfang， VIP， SinoMed， PubMed， Embase， and Cochrane Library， to include literature on domestic and international guideline evaluation tools and TCM-related research. Document analysis and CiteSpace were utilized for keyword co-occurrence and clustering analysis. ResultsA total of 65 relevant studies were included， from which seven core thematic domains were identified. Based on the research objectives， a two-step construction strategy was adopted： first， an external evaluation framework was established by referencing international tools to cover methodological rigor and procedural standardization； second， an internal evaluation framework was developed to reflect the distinctive features of TCM clinical practice， including syndrome differentiation and efficacy feedback. Through expert consensus， the indicator system was refined， resulting in a dual-layered structure comprising 8 primary indicators， 22 secondary indicators， and 62 evaluation criteria. ConclusionThe comprehensive evaluation system for TCM clinical practice guidelines， based on bibliometric analysis and core element extraction， integrates both theoretical integrity and practical applicability. This study provides a preliminary research foundation for further optimization， validation， and development of a refined comprehensive evaluation system.

Objective:To assess the long-term risk of relapse in patients with Crohn's disease (CD) who discontinued infliximab (IFX) monoclonal antibody and to identify risk factors associated with relapse.Methods:A single-center retrospective observational study was conducted from February 2006 to October 2016. The study included CD patients who were treated with scheduled IFX infusions at the First Affiliated Hospital of Sun Yat-sen University and assessed in corticosteroid-free clinical remission at the time of withdrawal were included. The primary outcome was clinical relapse. We evaluated the risk of relapse using Kaplan-Meier method. Factors associated with time to relapse was identified using the multiple Cox proportional hazards regression analysis.Results:We included 97 eligible patients, and 75 (77.3%) experienced a relapse after a median follow-up time of 124 months. Among them, 45 patients (46.4%) relapsed within 3 years after IFX withdrawal. The 1-, 2-, 3-, 5-, and 10-year relapse-free survival were 79.4%, 59.8%, 52.6%, 42.0% and 22.6%, respectively. Risk factors for relapse included age ≤ 16 ( HR = 2.62, 95% CI: 1.30-5.31; P = 0.007) and failure to achieve biological remission (CRP > 3 mg/L, HR = 2.37, 95% CI: 1.29-4.36; P = 0.006) at drug withdrawal. Induction with biologics or systemic steroids were both effective (89%-100% relieved) in relapsers. Conclusions:Nearly half of CD patients relapsed within 3 years after discontinuation of IFX treatment. Early age of discontinuation and failure to achieve serum biological remission at the time of discontinuation are independent predictors of clinical relapse.

Objective:To assess the long-term risk of relapse in patients with Crohn's disease (CD) who discontinued infliximab (IFX) monoclonal antibody and to identify risk factors associated with relapse.Methods:A single-center retrospective observational study was conducted from February 2006 to October 2016. The study included CD patients who were treated with scheduled IFX infusions at the First Affiliated Hospital of Sun Yat-sen University and assessed in corticosteroid-free clinical remission at the time of withdrawal were included. The primary outcome was clinical relapse. We evaluated the risk of relapse using Kaplan-Meier method. Factors associated with time to relapse was identified using the multiple Cox proportional hazards regression analysis.Results:We included 97 eligible patients, and 75 (77.3%) experienced a relapse after a median follow-up time of 124 months. Among them, 45 patients (46.4%) relapsed within 3 years after IFX withdrawal. The 1-, 2-, 3-, 5-, and 10-year relapse-free survival were 79.4%, 59.8%, 52.6%, 42.0% and 22.6%, respectively. Risk factors for relapse included age ≤ 16 ( HR = 2.62, 95% CI: 1.30-5.31; P = 0.007) and failure to achieve biological remission (CRP > 3 mg/L, HR = 2.37, 95% CI: 1.29-4.36; P = 0.006) at drug withdrawal. Induction with biologics or systemic steroids were both effective (89%-100% relieved) in relapsers. Conclusions:Nearly half of CD patients relapsed within 3 years after discontinuation of IFX treatment. Early age of discontinuation and failure to achieve serum biological remission at the time of discontinuation are independent predictors of clinical relapse.

Objective:To explore the clinical and genetic characteristics of dyskeratosis congenita (DC).Methods:A retrospective analysis was conducted on the clinical, laboratory, imaging, pathological, genetic, and treatment data of 6 DC patients diagnosed at the Children′s Hospital of Zhejiang University School of Medicine from January 2010 to June 2025.Results:Among the 6 DC patients, 1 case was of Hoyeraal-Hreidarsson syndrome, 4 were male, and 2 were female. The diagnosis age 0.9-6.1 years. All 6 cases presented with bone marrow failure; 5 cases had a classic triad of skin and mucous membrane (mucosal leukoplakia, abnormal skin pigmentation, nail dystrophy); 5 cases had growth retardation, among which 2 cases had intrauterine growth retardation. Two cases had diarrhea and 1 case had abnormal liver function; 1 case had stiff and deformed limbs, accompanied by limited mobility, and dry and obstructive balanitis; 1 case had recurrent eyelid inflammation, middle ear inflammation, and nasal inflammation. All 6 cases had decreased B cell numbers, and 4 cases also had decreased natural killer cell numbers. There were 3 cases of children with cytomegalovirus (CMV) infection, of which 1 case of CMV infection led to retinal frosted branch angiitis and subsequent intracranial CMV infection resulting in death, and 1 case had CMV enteritis and died of hemophagocytic syndrome. Among 4 cases of boys, 3 cases had DKC1 gene variations and 1 case had an unknown variation gene; 2 cases of girls had TINF2 gene variations. The TINF2 c.860T>A (p.L287Q) variation site was a new mutation. Among 6 patients with DC, 2 cases died, 3 cases survived and 1 case was lost to follow-up.Conclusions:The DKC1 and TINF2 genes are common pathogenic genes in patients with DC. Bone marrow failure is a clue for the early identification of DC. The triad of skin and mucous membrane is its typical clinical manifestation. Children with DC generally have reduced B cells and natural killer killer cells, and have a high risk of fatal CMV infection. The overall prognosis is poor.

Guidance implementation acts as a bridge between theory and practice，enabling the rapid expansion of their impact and application. This study demonstratively evaluated emergency health systems guidance documents （HSG），represented by the COVID-19 emergency HSG，based on the item implementability of the Appraisal of Guidelines for Research and Evaluation-Health Systems （AGREE-HS），aiming to explore the characteristics of implementability in emergency HSG. The evaluation results indicated that the COVID-19 emergency HSG had a low mean score in implementability，which ranked just above the item participants. Criterion 2 （costs and resource considerations for implementing the recommendations） received the highest mean score of 4.29，while criterion 9 （systematic evaluation of implementation） received the lowest mean score of 1.34. The emergency HSG formulated by the World Health Organization（WHO） and those formulated by various countries showed no difference （P=0.114） in criterion 1 （barriers and facilitators to implementation） but had differences （P<0.05） regarding the average item scores and the scores of the remaining criteria. The WHO standard HSG had high overall scores and had differences （P<0.05） in both the mean item scores and the scores of the nine criteria when compared with the emergency HSG. The global/national HSG showed differences in scores of criterion 1 （barriers and facilitators to implementation） compared with the both clinically relevant HSG and material support HSG （P<0.05）. Emergency HSG prioritized considerations of implementation costs，resources，and flexibility in terms of implementability，while de-emphasizing aspects such as stakeholder opinions，dissemination strategies，and evaluation of HSG. This may be attributed to the context in which emergency HSG are formulated，given the inherent flexibility and variability of emergency health events. The developers should comprehensively consider the needs and characteristics related to the implementability of emergency HSG during the formulation process.

Objective:Analysis of the influencing factors of maternal oral health care behavior based on the health belief model.Methods:From July to December 2023, a cross-sectional survey was conducted in Peking Union Medical College Hospital on 316 pregnant women who received the health belief questionnaire and self-efficacy scale。 t test and χ2 test were used to analyze the factors affecting the oral health care behavior of pregnant women from the perspective of social psychology. Results:Among the 316 pregnant women included, 110(34.8%) had poor daily oral health care behavior, 120 (38.1%)did not have oral examination before or during pregnancy. The health beliefs of pregnant women in overall oral care were not high, with a score of 6.63+3.23, Median score is 7 (5).Perceived susceptibility to oral diseases ( OR=1.51, 95% CI:1.026-2.213), self-efficacy of daily living ( OR=2.64, 95% CI: 1.384-5.040), self-efficacy of oral examination ( OR=1.74, 95% CI:1.184-2.570) were independent factors of daily oral health care behavior in pregnant women. Health motivation ( OR=2.47, 95% CI:1.474-4.126) and self-efficacy of oral examination ( OR=4.17, 95% CI:2.626-6.619) were independent factors of oral examination behavior before and during pregnancy. Conclusion:Health beliefs of maternal oral health, especially perceived susceptibility, health motivation and self-efficacy are closely related to maternal oral health care behaviors. To improve the health belief and self-efficacy of pregnant women′s oral health care and avoid potential obstacles, which could be conducive to the effective promotion of oral health care for pregnant women.

This study used the Appraisal of Guidelines Research & Evaluation-Health Systems （AGREE-HS） to demonstratively compare 34 global coronavirus disease-2019 （COVID-19） health systems guidance documents （HSGs） and 6 World Health Organization （WHO） standard HSGs. The comparison involved topic， participants， methods， recommendations， and implementability， with the aim of exploring the characteristics of emergency HSGs. The results showed that the emergency HSGs had an overall average score of 49%， with topic having the highest score， recommendations having the second highest score， and participants having the lowest score. The standard HSGs had an overall average score of 79%， with high scores in all items. The emergency HSGs had lower scores in participants， methods， recommendations， and implementability than the standard HSGs （P<0.001）， while the COVID-19 emergency HSGs developed by the WHO had higher score in topic than the standard HSGs （P<0.05）. Compared with those released by countries， the COVID-19 emergency HSG developed by the WHO showed superiority in all items and overall scores （P=0.000 2）. This indicates that emergency HSGs， represented by the COVID-19 emergency HSG， place equal emphasis on topic and recommendations as standard HSGs but have low requirements in terms of expert participation， evidence support， and comprehensive consideration in the time- and resource-limited context. They have the characteristics of prominent topics， clear purposes， orientation to demand， keeping up with the latest evidence， flexible adjustment， and timeliness， emphasizing immediate implementation effects， weakening long-term effects， and focusing on comprehensive benefits. Additionally， developers， types， and report completeness are important influencing factors.

The scientific rigor and efficacy of methodologies employed in drafting emergency health systems guidance documents （HSGs） are paramount in guaranteeing the quality， reliability， and applicability of HSGs. According to the Appraisal of Guidelines for Research and Evaluation- Health Systems （AGREE-HS）， we demonstratively assessed both global coronavirus disease-2019 （COVID-19） emergency HSGs and World Health Organization （WHO） standard HSGs to uncover the core attributes of methods employed in the development of emergency HSGs. Our evaluation findings revealed that across the five assessment items of AGREE-HS， methods in the 34 emergency HSGs evaluated ranked third， trailing behind topic and recommendations. Notably， criterion 2 （the best available and most contextually relevant evidence is considered） received the highest score， whereas criterion 5 （evidence of cost and cost-effectiveness of the potential options is described） scored the lowest. Compared with the WHO standard HSGs， the COVID-19 emergency HSGs exhibited low scores in methods （P<0.05）， which was reflected in nine criteria （P<0.05）， especially in criteria 1 （systematic and transparent methods are used to identify and review the evidence） and 9 （systematic and transparent methods are used to agree upon the final recommendations）. Among the COVID-19 emergency HSGs， that developed by the WHO achieved higher scores in eight out of all nine criteria， excluding criterion 8 （P<0.05）. The clinically relevant emergency HSGs had higher scores in the criteria 3 （the evidence base is current） and 8 （the rationale behind the recommendations is clear） than other types of emergency HSGs. Collectively， the methodology for developing emergency HSGs， represented by the COVID-19 emergency HSG， underscores evidence orientation and integrates expert consensus. It is characterized by adaptable evidence synthesis strategies， streamlined evidence review protocols， and contextual relevance， all of which are influenced by external， internal， and implementation-specific factors.

The formulation method of emergency health systems guidance （HSG） is crucial， directly impacting the efficiency and effectiveness of responses in emergencies. A scientifically sound， systematic， and easily executable guidance document can assist health institutions at all levels in quickly coordinating resources， standardizing emergency response processes， and safeguarding public health. This study employed the Appraisal of Guidelines for Research and Evaluation for Health Systems （AGREE-HS） to analyze the characteristics of participants in developing emergency HSGs represented by the COVID-19 emergency HSG. The results showed that in the 34 HSGs included in this study， the item participants received the lowest score. Within this item， criterion 1 （diversity of development group） scored the highest （3.13±1.55）， while criterion 5 （prevention of funding agency influence） scored the lowest （1.21±0.47）. There were differences （P<0.05） in measures taken to mitigate funding agency influence between the six standard HSGs developed by the World Health Organization （WHO） and the four emergency HSGs. Additionally， differences （P<0.05） existed in the development group members， background， conflicts of interest， and preventive measures between the six WHO standard HSGs and the 34 emergency HSGs， as well as between the HSGs developed by the WHO and those developed by countries. The participants in developing emergency HSGs were influenced by various factors， including limited time for guideline development， modes of participation， scarce evidence， and uncertainties in expected outcomes. There is a need to downplay extensive requirements concerning the composition of group members， institutional diversity， and conflicts of interest， emphasizing the roles of key participants like government officials and professionals who can provide rapid， practical guidance in emergency situations.