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.

Objective:To develop and validate a prediction model for medication adherence among patients receiving allergen sublingual immunotherapy (SLIT).Methods:A prospective cross-sectional study was conducted, and a total of 288 patients who received SLIT treatment at an allergy center in the First Affiliated Hospital with Nanjing Medical University (Jiangsu Province Hospital) from December 2023 to July 2024 were assigned to the modeling group. Additionally, 122 patients from August to October 2024 were assigned to the validation group. Data of patients′ general information, medication beliefs, anxiety levels, social support, disease perception, and medication adherence were collected. Single-factor analysis and LASSO regression were utilized to identify potential predictors, and a prediction model for medication adherence was constructed using multifactorial logistic regression. A nomogram was then developed based on the model. The model′s discriminatory ability was evaluated using receiver operating characteristic curve (ROC), the area under curve (AUC), sensitivity, and specificity. The model was then validated in the validation cohort.Results:Single-factor analysis and LASSO regression identified a total of nine predictive factors. Logistic regression revealed that medical belief tendency [ OR (95% CI) =2.420 (1.116-5.248), P=0.025], the somatic control dimension in self-rating anxiety scales [ OR (95% CI)=1.404 (1.241-1.589), P<0.001], the subjective support dimension in social support assessment [ OR (95% CI)=0.784 (0.725-0.847), P<0.001], and the cognitive dimension in illness perception [ OR (95% CI)=0.725 (0.647-0.813), P<0.001] were independent predictors of medication adherence in patients undergoing SLIT. The AUC value of the model was 0.899 (95% CI=0.863-0.934) in the modeling group and 0.882 (95% CI=0.820-0.944) in the validation group, indicating good discriminatory ability. The optimal cutoff value of the model was 0.493, with a sensitivity of 81.1% and specificity of 85.7% in the modeling group, and a sensitivity of 87.3% and specificity of 82.5% in the validation group. Conclusion:The medication adherence prediction model developed in this study for patients undergoing SLIT exhibits good predictive performance and provides valuable guidance for early intervention by clinical healthcare professionals.

Objective:To develop and validate a prediction model for medication adherence among patients receiving allergen sublingual immunotherapy (SLIT).Methods:A prospective cross-sectional study was conducted, and a total of 288 patients who received SLIT treatment at an allergy center in the First Affiliated Hospital with Nanjing Medical University (Jiangsu Province Hospital) from December 2023 to July 2024 were assigned to the modeling group. Additionally, 122 patients from August to October 2024 were assigned to the validation group. Data of patients′ general information, medication beliefs, anxiety levels, social support, disease perception, and medication adherence were collected. Single-factor analysis and LASSO regression were utilized to identify potential predictors, and a prediction model for medication adherence was constructed using multifactorial logistic regression. A nomogram was then developed based on the model. The model′s discriminatory ability was evaluated using receiver operating characteristic curve (ROC), the area under curve (AUC), sensitivity, and specificity. The model was then validated in the validation cohort.Results:Single-factor analysis and LASSO regression identified a total of nine predictive factors. Logistic regression revealed that medical belief tendency [ OR (95% CI) =2.420 (1.116-5.248), P=0.025], the somatic control dimension in self-rating anxiety scales [ OR (95% CI)=1.404 (1.241-1.589), P<0.001], the subjective support dimension in social support assessment [ OR (95% CI)=0.784 (0.725-0.847), P<0.001], and the cognitive dimension in illness perception [ OR (95% CI)=0.725 (0.647-0.813), P<0.001] were independent predictors of medication adherence in patients undergoing SLIT. The AUC value of the model was 0.899 (95% CI=0.863-0.934) in the modeling group and 0.882 (95% CI=0.820-0.944) in the validation group, indicating good discriminatory ability. The optimal cutoff value of the model was 0.493, with a sensitivity of 81.1% and specificity of 85.7% in the modeling group, and a sensitivity of 87.3% and specificity of 82.5% in the validation group. Conclusion:The medication adherence prediction model developed in this study for patients undergoing SLIT exhibits good predictive performance and provides valuable guidance for early intervention by clinical healthcare professionals.

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.

ObjectiveBased on the experience of traditional quality evaluation， the quality of Atractylodis Macrocephalae Rhizoma（AMR） with different production methods such as direct seeding， transplanting after seedling raising， topping and non-topping， and difference in growth years was compared. MethodVernier caliper was used to measure the trait data of AMR in different production methods. Paraffin sections of AMR with different production methods were made by saffron solid green staining， and the microstructure was observed. The contents of water-soluble and alcohol-soluble extracts in AMR with different production methods were determined according to the 2020 edition of Chinese Pharmacopoeia. The content of water-soluble total polysaccharides in AMR with different production methods was detected by sulfuric acid-anthrone method. Fiber analyzer was used to detect the content of fiber components in AMR with different production methods. The contents of monosaccharides， oligosaccharides and some secondary metabolites in AMR with different production methods were detected by ultra performance liquid chromatography（UPLC）， and the differences of chemical components were compared by multivariate statistical analysis methods such as principal component analysis（PCA） and partial least squares-discriminant analysis（PLS-DA）. ResultIn terms of traits， the 3-year-old AMR with direct seeding and without topping was close to the high-quality AMR with "phoenix-head and crane-neck， strong sweetness and clear aroma" recorded in ancient materia medica， followed by the 3-year-old AMR with topping after transplanting， while the 2-year-old AMR with topping after transplanting with high market circulation rate was generally fat and strong with mild odor. In the microscopic aspect， the arrangement of xylem vessels and fiber bundles in the 3-year-old samples formed two obvious rings. Compared with the 2-year-old samples cultivated in Bozhou and Zhejiang， the 3-year-old samples without topping after transplanting had more wood fibers. In terms of chemical composition， the contents of 70% ethanol extract， fructose， glucose， sucrose， 1-kestose， atractylenolide Ⅰ， chlorogenic acid， neochlorogenic acid， cryptochlorogenic acid and other components in 3-year-old AMR with direct seeding and without topping were significantly higher than those in the other three samples（P<0.05）. The contents of cellulose， 70% ethanol extract， sucrose， atractylenolide Ⅰ， atractylone and other components in 3-year-old AMR with topping after transplanting were significantly higher than those in the 2-year-old AMR with high market circulation rate（P<0.05）， while the contents of water-soluble extract and water-soluble total polysaccharides in 2-year-old samples with topping after transplanting were significantly higher than those in the 3-year-old AMR with topping after transplanting， direct seeding and without topping（P<0.05）. ConclusionUnder the current mainstream production mode， too much manual intervention makes AMR heavily enriched in polysaccharides and increased the yield， but the accumulation of sweet substances， fragrant substances and fiber substances is insufficient， which affects its quality. The current quality standard of AMR has some shortcomings in guiding the high quality production of it， it is suggested to revise the quality standard of AMR， supplement the quantitative analysis of secondary metabolites， and strengthen the production of imitation wild AMR.

Objective To explore the impact of the connect,introduce,communicate,ask,respond,exit(CICARE)communication model combined with feedback health education model on the compliance and anxiety level of elderly outpatients before colonoscopy.Methods A total of 346 patients aged ≥60 who visited the Outpatient Department,the Second Hospital of Jiaxing City for the first time and underwent colonoscopy from September to December 2023 were randomly divided into control group(n=86),communication group(n=84),feedback group(n=86),and combined group(n=90)using random number table method.The control group were provided routine education to patients undergoing colonoscopy through watching colon preparation videos,verbal education,and written propaganda educational materials;The communication group were implemented health education for colonoscopy by using the CICARE communication model;The feedback group were implemented health education for colonoscopy by using feedback method;The combined group were implemented the above education to patients by using the CICARE communication model combined with feedback method.The compliance with colon preparation,intestinal cleanliness,and patient anxiety scores before colonoscopy were evaluated and compared among the four groups.Results There were no statistically significant differences in dietary compliance and medication compliance among the four groups(P＞0.05),but there was a statistically significant difference in exercise compliance(P＜0.05).Different educational methods had statistical significance on patients'intestinal cleanliness and anxiety scores(P＜0.001),and further post hoc comparisons showed that the education method of the combined group could improve the overall intestinal cleanliness score and reduce patient anxiety score.Conclusion The health education model of the CICARE communication method combined with feedback has a significant effect on health education for elderly patients,which can improve the compliance with colon preparation and reduce patient anxiety scores.

Advances in high-throughput sequencing (HTS) have fostered rapid developments in the field of microbiome research, and massive microbiome datasets are now being generated. However, the diversity of software tools and the complexity of analysis pipelines make it difficult to access this field. Here, we systematically summarize the advantages and limitations of microbiome methods. Then, we recommend specific pipelines for amplicon and metagenomic analyses, and describe commonly-used software and databases, to help researchers select the appropriate tools. Furthermore, we introduce statistical and visualization methods suitable for microbiome analysis, including alpha- and beta-diversity, taxonomic composition, difference comparisons, correlation, networks, machine learning, evolution, source tracing, and common visualization styles to help researchers make informed choices. Finally, a step-by-step reproducible analysis guide is introduced. We hope this review will allow researchers to carry out data analysis more effectively and to quickly select the appropriate tools in order to efficiently mine the biological significance behind the data.

Objective:To evaluate the effectiveness of Simplified Airway Risk Index (SARI) score in predicting difficult airway in Chinese patients.Methods:One thousand and three hundred patients of both sexes, aged 18-90 yr, with American Society of Anesthesiologists physical status Ⅰ-Ⅲ, undergoing tracheal intubation with the laryngoscope under general anaesthesia, were enrolled in this study.SARI scores (including 7 evaluation items: mouth opening, thyromental distance, Mallampati classification, neck mobility, mandibular protrusion, body weight, and history of difficulty in tracheal intubation) were determined before anesthesia induction.The receiver operating characteristic curve and area under the curve (AUC) were used to evaluate the effectiveness of SARI scores in predicting difficult tracheal intubation and difficult laryngoscopy.Results:The AUC and 95% confidence interval of the SARI score, mouth opening, modified Mallampati classification and thyromental distance in predicting difficult tracheal intubation were 0.91 (0.89-0.93), 0.84 (0.82-0.86), 0.81 (0.79-0.83) and 0.83 (0.80-0.85), respectively.The AUC and 95% confidence interval of the SARI score, mouth opening, modified Mallampati classification and thyromental distance in predicting difficult laryngoscopy were 0.90 (0.88-0.91), 0.79 (0.76-0.81), 0.76 (0.74-0.78) and 0.73 (0.70-0.75), respectively.The AUC of SARI scores in predicting difficult tracheal intubation and difficult laryngoscopy was significantly larger than that of the mouth opening, modified Mallampati classification and thyromental distance ( P<0.05). Conclusion:The SARI score produces better efficacy in predicting tracheal intubation and difficult laryngoscopy in Chinese patients.

Objective: To explore the anesthetic effect of low dose remifentanil in patients undergoing sequential painless gastroscopy and painless colonoscopy in accordance with intravenous induction of propofol. Methods: From July 2017 to January 2018, 86 patients who needed painless gastroscopy and painless colonoscopy in sequence were selected as observation objects in the Second Hospital of Jiaxing and were divided into control group and observation group according to random number table method, with 43 cases in each group.The control group was anesthetized with propofol only, while the observation group was anesthetized with low dose remifentanil in accordance with propofol.The occurrence of adverse reactions and recovery were compared between the two groups. Results: The incidence rate of adverse reactions of the control group was 20.93%(9/43), which of the observation group was 13.95%(6/43), there was no statistically significant difference between the two groups (χ²=0.272, P=394). The recovery time and the observation time after awakening in the observation group were (7.19±1.98)min and (6.94±2.04)min, respectively, which were significantly shorter than those in the control group [(10.33±2.42)min and (11.69±3.21)min], the differences were statistically significant (t=6.585, 8.190, P=0.000, 0.000). Conclusion Intravenous induction with low dose remifentanil combined with propofol in patients undergoing painless gastroscopy and painless colonoscopy in sequence has less adverse reactions, good anesthesia persistence and short recovery time, which is worthy of clinical popularization.

Objective To evaluate the effect of the LEMON method in predicting difficult air-way.Methods A total of 1 528 patients scheduled for elective surgery requiring tracheal intubation under general anaesthesia,680 males and 848 females,aged 18-83 years,ASA physical status Ⅰ orⅡ,were enrolled in the study.We used the LEMON method to assess airway conditions before an-aesthesia and recorded the scores.The primary end point was difficult tracheal intubation.The sec-ondary end point was difficult laryngoscopy.Receiver operating characteristic (ROC)curve analysis and the area under the curve (AUC)were used to evaluate the clinical effect of the LEMON mothod. Results There were 37 cases with difficult tracheal intubation and 106 cases with difficult laryngosco-py.The incidence of difficult tracheal intubation and difficult laryngoscopy were 2.4% and 6.9%,re-spectively.The area under the curve of the LEMON method for predicting difficult laryngoscopy and difficult tracheal intubation were 0.884 (95% CI 0.867-0.899)and 0.934 (95% CI 0.921-0.946), respectively.Conclusion The LEMON method has good clinical effect in predicting difficult airway.