Objective To understand the status of body image disturbance and its influencing factors in patients with ankylosing spondylitis (AS), so as to provide a scientific basis for the clinical management of AS. Methods A total of 353 AS patients admitted from January 2022 to December 2024 were selected as research subjects. Chinese version of Body Image Disturbance Questionnaire (BIDQ) was used to investigate the body image disturbance in AS patients. Single factor analysis was performed by t test and analysis of variance, and multiple factors were analyzed by multivariate linear regression. Results The total score of BIDQ in 342 AS patients was (25.01±4.22). Multivariate linear regression analysis results showed that self-paid medical expense, nighttime VAS score and negative emotion PANAS score could positively predict body image disturbance in AS patients (standardized regression coefficient=0.413, 0.413, 0.460, P<0.05), and PSSS score, positive emotion PANAS score and exercise management CDSSM score could negatively predict body image disturbance (standardized regression coefficient=-0.245, -0.134, -0.247, P<0.05). Conclusion The body image disturbance in AS patients is worthy of clinical attention. Nighttime pain, negative emotion and self-paid medical treatment can increase the risk of body image disturbance. Positive emotion, social support and high self-management level of exercise behavior can reduce the formation of body image disturbance, which can provide new ideas for clinical management of AS patients.

Objective: To compare the intervention effects of sitagliptin combined with metformin and insulin aspart combined with metformin among patients with type 2 diabetes mellitus (T2DM), so as to provide the reference for optimizing blood glucose control strategies among patients with T2DM. Methods: T2DM patients admitted to the department of endocrinology of Jinhua Central Hospital from January 2018 to December 2024 were selected as the research objects. According to the propensity score matching, T2DM patients were divided into sitagliptin combined with metformin group and insulin aspart combined with metformin group at a ratio of 1∶1. The basic information, capillary blood glucose, glycosylated hemoglobin blood glucose (HbA1c), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), triglyceride (TG), body mass index (BMI), systolic blood pressure (SBP) and diastolic blood pressure (DBP) of the two groups were collected by questionnaire survey, physical examination and laboratory test. The generalized estimating equation was used to analyze the changes of various indicators before and after treatment between the two groups of patients, and the intervention effect was compared. Results: There were 69 cases in the sitagliptin combined with metformin group. Among these 42 cases were males, accounting for 60.87%, and 27 cases were females, accounting for 39.13%.Forty-two cases were younger than 60 years, accounting for 60.87%. There were 69 cases in the insulin aspart combined with metformin group. Among these 47 cases were males, accounting for 68.12%, and 22 cases were females, accounting for 31.88%. Forty-five cases were younger than 60 years, accounting for 65.22%. There were no statistically significant differences in gender, age, education level, smoking, drinking, vegetable and fruit intake, and disease duration between the two groups (all P>0.05). After 6 months of treatment, there was an interaction between group and time in capillary blood glucose and HbA1c in the two groups (all P<0.05), and the reduction of capillary blood glucose and HbA1c in the sitagliptin combined with metformin group was greater than that in the insulin aspart combined with metformin group. There were no statistically significant differences between groups and time in TC, HDL-C, TG, BMI, SBP, and DBP, and no interaction effect was found between groups and time (all P>0.05). Conclusion Sitagliptin combined with metformin is more effective than insulin aspart combined with metformin in controlling blood glucose among patients with T2DM.

OBJECTIVES: To investigate the association between methylation levels of tumor suppressing subtransferable candidate 1 (TSSC1) and melanophilin (MLPH) genes in peripheral blood and coronary heart disease (CHD) in Chinese population. METHODS: This case-control study was conducted in 86 CHD patients and 95 healthy individuals, whose methylation levels of TSSC1 and MLPH genes in peripheral blood were determined using mass spectrometry. Mann-Whitney U test was used to compare the methylation levels in different subgroups. The correlation of TSSC1 and MLPH gene methylation levels with age and gender were evaluated using Spearman correlation coefficient and contingency coefficient, respectively. RESULTS: Compared with the healthy individuals, the CHD patients showed a significant correlation between MLPH hypermethylation and myocardial infarction (MI) (MLPH_CpG_2.7: P=0.045; MLPH_CpG_3/cg06639874: P=0.049; MLPH_CpG_5: P=0.019), and this correlation was even stronger in individuals below 65 years of age (MLPH_CpG_2.7: P=0.014; MLPH_CpG_4: P=0.001) and in male subjects (MLPH_CpG_2.7: P=0.004; MLPH_CpG_3/cg06639874: P=0.044). The methylation level of TSSC1 gene in peripheral blood was not found to correlate with CHD or its subtypes. CONCLUSIONS Our findings suggest a correlation of MLPH hypermethylation in peripheral blood with CHD and MI in Chinese population, especially in individuals below 65 years and in male individuals.
Humans ; DNA Methylation ; Male ; Female ; Middle Aged ; Case-Control Studies ; Aged ; Coronary Disease/blood* ; Adult ; CpG Islands

Mutations in the IARS1 gene are rare in clinical practice， and up to now， only ten cases with detailed clinical and genetic data have been recorded in the literature. This article reports a case of growth retardation， intellectual developmental disorder， hypotonia， and hepatopathy （GRIDHH） associated with single heterozygous mutations in the IARS1 gene and summarizes the clinical and genetic features of GRIDHH， thereby expanding the genetic spectrum of GRIDHH.

The occurrence of diabetes mellitus （DM） is closely related to insulin resistance and islet β cell dysfunction. Modern studies have found that macrophages are widely present in the liver，fat，skeletal muscle，islets， and other tissues and organs. Macrophage M1/M2 polarization plays an important role in the occurrence and development of diabetes mellitus and its related complications by intervening in inflammatory response，improving insulin resistance，and promoting tissue repair. Most of the traditional Chinese medicines that regulate the activation and polarization of macrophages are Qi-replenishing and Yin-nourishing，heat-clearing， and detoxicating medicinal，which are consistent with the etiology and pathogenesis of diabetes and its related complications. Therefore，by summarizing the mechanisms between macrophage activation，polarization， and insulin resistance in various tissues，this paper reviewed traditional Chinese medicine and its effective components and compounds in improving diabetes mellitus and its related complications through multi-channel regulation of macrophage polarization and regulation of M1/M2 ratio，providing references for the future treatment of DM and its related complications with traditional Chinese medicine.

Objective To explore the experiences of children with Crohn's disease and their parents regarding the exclusion diet,and to provide a basis for formulating personalized dietary guidance programs.Methods A total of 12 children with Crohn's disease and their parents,hospitalized in the Department of Gastroenterology at a tertiary children's hospital in Guangzhou from June to December 2023,were selected as research subjects using objective sampling.Semi-structured interviews were conducted,and the data were analyzed and refined using Colaizzi's seven-step analysis method.Results Totally 3 themes and 14 sub-themes were extracted.①Lack of cognition and trust in Crohn's disease exclusion diet(unfamiliarity with the contents of the diet,misunderstanding of the diet's preparation,inadequate response to daily exclusion diet practices,parents' distrust in the exclusion diet).②The practical challenges of the Crohn's disease exclusion diet(the challenge of personal dietary preferences,the challenge of family meal preparation,the challenge of school feeding,food intolerance,feelings of monotony and weariness following the exclusion diet).③Innovations in practicing the Crohn's disease exclusion diet(managing taste fatigue,managing visual fatigue,innovative cooking methods,prioritizing exclusive enteral nutrition followed by the exclusion diet,overcoming the desire for universal food).Conclusion Children with Crohn's disease and their parents exhibit insufficient cognition and trust in the exclusion diet and face various challenges in practice.Clinical medical staff should adopt personalized coping strategies tailored to the specific circumstances of each child.

Objective:To identify the relevant factors for the first-course remission of acute myeloid leukemia (AML) and to develop a predictive model as well as assess its predictive capability.Methods:Clinical data of 749 patients newly diagnosed with AML admitted to the Department of Hematology, the First Affiliated Hospital, Zhejiang University, School of Medicine from January 1, 2019, to April 30, 2023, were collected and randomly divided into training and validation sets. Multivariate logistic regression analysis was conducted to determine variables associated with complete remission in the first course of induction therapy, and a predictive model was established based on these variables. The receiver operating characteristic (ROC) curve of the predictive model was plotted, and the area under the curve (AUC) was calculated.Results:The indicators predicting the first remission course included peripheral blood white blood cell count during onset, CBF::MYH11 fusion gene, CEBPA bZIP region mutation, myelodysplastic syndrome-related gene mutation, and induction chemotherapy regimen selection as independent factors for the first remission course. The model’s area under the training and validation curves was 0.738 (95% CI: 0.696-0.780) and 0.726 (95% CI: 0.650-0.801), respectively. The Hosmer-Lemeshow test results yielded P-values of 0.993 and 0.335, respectively. Conclusion:In this study, the developed model demonstrates a strong predictive capability for the efficacy of the first course of patients with AML, providing valuable guidance to clinicians in assessing patient prognosis and selecting appropriate treatment strategies.

Objective:To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ).Method:A child with OFDSⅠ who received treatment at the Women and Children′s Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines" ), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children′s Hospital (Ethic No.: EC 2024-063).Results:The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c. 710dup(p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child′s parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+ PS4_Moderate+ PM2-Supporting+ PM6_Supporting+ PP4). Conclusion:Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c. 710dup(p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ). METHODS: A child with OFDSⅠ who received treatment at the Women and Children's Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines"), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children's Hospital (Ethic No.: EC 2024-063). RESULTS: The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c.710dup (p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child's parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+PS4_Moderate+PM2-Supporting+PM6_Supporting+PP4). CONCLUSION Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c.710dup (p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.
Humans ; Female ; Orofaciodigital Syndromes/genetics* ; Exome Sequencing ; Retrospective Studies ; Mutation ; Child ; Proteins

Objective To investigate the effect of benserazide combined with respiratory training on post-stroke dysphagia.Methods A total of 120 patients with dysphagia after stroke were prospectively selected and randomly divided into the combination group and the breathing exercise group,with 60 cases in each group.The breathing exercise group was treated with rehabilitation breathing training,and the combination group was treated with dopa serazide on the basis of rehabilitation breathing training,3 times a day,1 tablet once.The traditional Chinese medicine(TCM)syndrome scores,clinical efficacy and swallowing function indexes including dysphagia angiography score(VDS),osmotic-aspiration scale(PAS)score,Lowada drinking water test score and VFSS score were compared between the two groups.Nutritional indices[total cholesterol(TC),triglyceride(TG),albumin(ALB),hemoglobin(Hb)],related indexes of nerve function[nerve function and serum growth differentiation factor 15(GDF-15),central nerve specific protein soluble protein-100β(S100β)],quality of life and anxiety disorder score[Quality of Life Rating Scale(SF-36)score,Generalized Anxiety Disorder Scale(GAD-7)score]and adverse reactions were compared between the two groups.Results The total effective rate of the combination group(91.67%)was obviously increased(P＜0.05)compared to the breathing exercise group(58.33%).Compared with before treatment,after treatment,tongue flaccidity,slow swallowing,choke after drinking water,tongue coating ecchymosis,score of fine pulse,VDS,PAS,score of Lowada drinking water test,GDF-15 level and GAD-7 score were decreased in the two groups,and those of the combination group were significantly lower than the breathing exercise group(P＜0.05).The levels of TC,TG,ALB,Hb,S100β,VFSS and SF-36 were increased in the two groups,and those of the combination group were higher than the breathing exercise group(P＜0.05).There was no significant difference in the incidence of adverse reactions between the two groups.Conclusion Benserazide combined with respiratory training has high clinical efficacy in patients with post-stroke dysphagia,which can effectively improve the TCM evidence score and nutritional indicators,improve swallowing function,reduce anxiety,improve quality of life,and have more ideal clinical application.