Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.

Aim To explore the mechanism of the co-lonic mucosa of rats with irritable bowel syndrome(IBS)by regulating the Tongxie Yaofang on mecha-nism of short chain fatty acids(SCFAs)and 5-hydroxytryptamine(5-HT)conversion metabolism.Methods The IBS model rats were established by colorectal stimulating baby rats combined with tempora-ry separation of baby rats and female rats.The IBS rats were divided into low-dose Tongxie Yaofang group,high-dose group,model control group,and normal control group.Transmission electron microscopy was used to observe the ultrastructure of the intestinal mu-cosa;ELISA was used to detect the levels of DAO,D-LA,ET,5-HT and 5-HTP in serum;gas chromatogra-phy was used to detect the levels of SCFAs(acetic,propionic and butyric acids)in feces;immunohisto-chemistry was used to detect the expression levels of TPH1,TRPA,5-HTP,5-HT,TGR5,TLR2,5-HT4R and SERT;Western blot was used to detect the expres-sion of intestinal mucosal tight junction proteins Clau-din-1,ZO-1 and Hcy,and the expressions of TPH1,TRPA,TGR5,TLR2 and SERT in colon tissues were further validated.Results Tongxie Yaofang signifi-cantly increased the protein expression of Claudin-1 and ZO-1 of IBS model rats(P＜0.01),decreased Hcy protein expression(P＜0.01),and reduced lev-els of DAO,D-LA,ET,5-HT and 5-HTP in serum(P＜0.05,P＜0.01).It reduced acetic acid,propionic acid and butyric acid content in feces(P＜0.05,P＜0.01),decreased colonic tissue TPH1,TRPA,5-HTP,5-HT,TGR5,TLR2,5-HT4R expression(P＜0.05,P＜0.01),and increased SERT expression(P＜0.05,P＜0.01).Conclusion Tongxie Yaofang improves the pathology of IBS by promoting the expres-sion of intestinal tight junction proteins,regulating the expression of related proteins in the SCFAs-5-HT trans-lational metabolic system,and repairing the intestinal mucosal barrier function.

Objective This study aims to investigate the current status and potential profiles of emotional inhibition in stoma patients with colorectal cancer,to analyze the differences and influencing factors,and thereby provide a basis for the development of intervention strategies.Methods A convenience sample of 348 colorectal cancer patients with ostomies was recruited from colorectal surgery departments and ostomy outpatient clinics of a tertiary A hospital in Anhui Province.Data were collected using the General Information Questionnaire,Emotional Inhibition Scale,Chinese Perceived Stress Scale,10 item Conner Davidson Resilience Scale,and Family Care Index Questionnaire.Latent profile analysis was performed using Mplus 8.3,while univariate analysis and multivariate logistic regression analysis were conducted using SPSS 26.0.Results Valid questionnaires were collected from 336 participants(response rate 96.6％).Colorectal cancer patients with ostomies demonstrated a mean emotional inhibition score of 30.84±10.49.Latent profile analysis identified 3 distinct emotional inhibition patterns:high inhibition-suppressive type(31.25％),moderate inhibition-adaptive type(39.88％),and low inhibition-excessive type(28.87％).Gender,residential location,household income per capita,ostomy self-care proficiency,perceived stress levels,psychological resilience scores and family functioning status emerged as significant determinants of emotional inhibition heterogeneity among colorectal cancer patients with ostomies across distinct latent profiles(P＜0.05).Conclusion Colorectal cancer patients with ostomies exhibit significant heterogeneity in emotional inhibition profiles.Clinicians should conduct early identification of these latent classes through standardized assessments and develop tailored interventions to improve emotional inhibition outcomes in this clinical population.

OBJECTIVE: To explore the clinical significance of trisomy 7 signaled by non-invasive prenatal testing (NIPT). METHODS: Pregnant women with high risk for trisomy 7 by NIPT from January 2017 to December 2023 were selected as the study subjects, and the results of prenatal diagnosis and follow-up were analyzed. Literature related to pregnant women with a high risk for trisomy 7 by NIPT from January 2016 to July 2024 was retrieved from China Biomedical Literature Database, Wanfang Database, China National Knowledge Infrastructure and PubMed database. Relevant information such as the incidence of trisomy 7 by NIPT, positive predictive value (PPV), and pregnancy outcomes were collected. This study has been approved by the Medical Ethics Committee of Lianyungang Maternal and Child Health Care Hospital (Ethics No. JS2022010). RESULTS: A total of 51 women with a high risk for trisomy 7 by NIPT were identified. Thirty-two of them had chosen chromosomal microarray analysis (CMA) of amniotic fluid cells, and 1 case of mosaic trisomy 7 was detected, which had yielded a PPV of 3.13%. Four women had opted termination of pregnancy, 1 had miscarriage, 4 had pre-term and/or low weight birth, whilst the remaining 42 (82.4%) had full-term delivery. In total 19 literature were retrieved, which had involved 278 cases of trisomy 7 signaled by NIPT, among which 5 fetuses with mosaic trisomy 7 (3.14%) were confirmed. Among the 211 women with follow-up outcomes, 2 (0.95%) had intrauterine growth restriction, 3 (1.42%) had abnormal fetal structure detected by ultrasound, 2 (0.95%) had miscarriage, 9 (4.27%) underwent pregnancy termination, 28 (13.27%) had preterm and/or low weight birth, whilst 167 (79.14%) had normal delivery. In 18 cases, chromosomal analysis of placental tissue was carried out, and 17 were confirmed to have mosaicism trisomy 7. CONCLUSION The PPV for trisomy 7 signaled by NIPT is extremely low. Although most of such women had a full term delivery, adverse pregnancy outcomes may still occur in a minority of cases. Clinicians should provide adequate genetic counseling for such women and recommend appropriate prenatal diagnosis strategies and optimal perinatal management plans.
Humans ; Female ; Pregnancy ; Trisomy/diagnosis* ; Chromosomes, Human, Pair 7/genetics* ; Adult ; Prenatal Diagnosis/methods* ; Noninvasive Prenatal Testing/methods* ; Pregnancy Outcome ; Clinical Relevance

Objective This study aims to investigate the current status and potential profiles of emotional inhibition in stoma patients with colorectal cancer,to analyze the differences and influencing factors,and thereby provide a basis for the development of intervention strategies.Methods A convenience sample of 348 colorectal cancer patients with ostomies was recruited from colorectal surgery departments and ostomy outpatient clinics of a tertiary A hospital in Anhui Province.Data were collected using the General Information Questionnaire,Emotional Inhibition Scale,Chinese Perceived Stress Scale,10 item Conner Davidson Resilience Scale,and Family Care Index Questionnaire.Latent profile analysis was performed using Mplus 8.3,while univariate analysis and multivariate logistic regression analysis were conducted using SPSS 26.0.Results Valid questionnaires were collected from 336 participants(response rate 96.6％).Colorectal cancer patients with ostomies demonstrated a mean emotional inhibition score of 30.84±10.49.Latent profile analysis identified 3 distinct emotional inhibition patterns:high inhibition-suppressive type(31.25％),moderate inhibition-adaptive type(39.88％),and low inhibition-excessive type(28.87％).Gender,residential location,household income per capita,ostomy self-care proficiency,perceived stress levels,psychological resilience scores and family functioning status emerged as significant determinants of emotional inhibition heterogeneity among colorectal cancer patients with ostomies across distinct latent profiles(P＜0.05).Conclusion Colorectal cancer patients with ostomies exhibit significant heterogeneity in emotional inhibition profiles.Clinicians should conduct early identification of these latent classes through standardized assessments and develop tailored interventions to improve emotional inhibition outcomes in this clinical population.

Objective To explore and analyze the current situation of consumer health activation index and its influencing factors in hospitalized elderly patients with multiple chronic conditions,and to provide reference basis for clinical intervention.Methods Convenience sampling method was used to select 332 hospitalized elderly patients with multiple chronic conditions from a tertiary hospital in Hefei City from July to December 2024 as the study subjects,and general information questionnaire,Consumer Health Activation Index,Health Literacy Management Scale,Scale of the Elderly Self-neglcet(Rural),and Perceived Social Support Scale were used to investigate the current situation of consumer health activation index of hospitalized elderly patients with multiple chronic conditions.Univariate analysis and multiple linear regression analysis were employed to explore the influencing factors of consumer health activation index in patients with multiple chronic conditions.Results A total of 332 questionnaires were distributed,and 325 valid questionnaires were retrieved.The score of the consumer health activation index of hospitalized elderly patients with multiple chronic conditions was(61.68±15.12).The results of multiple linear regression showed that literacy,average monthly household income,number of chronic diseases,medication frequency,self-care ability,health literacy management,perceived social support and self-neglect were the influencing factors for the positivity of hospitalized elderly patients with multiple chronic conditions(P＜0.05),which could explain 59.9％of the variance of the consumer health activation index of hospitalized elderly patients with multiple chronic conditions.Conclusion The consumer health activation index of hospitalized elderly patients with multiple chronic conditions is at a low level.In the future,precise and systematic intervention measures for enhancing positive health status can be formulated by taking into account relevant influencing factors,in order to promote the transformation of patients from passive health to active health,and thereby facilitating positive aging.

Objective To explore the impact and threshold effect of productive engagement on the elderly patients with chronic diseases with demoralization syndrome,and to provide theoretical basis for further improving the elderly patients with chronic diseases with demoralization syndrome.Methods A total of 350 elderly patients with chronic diseases from July to December 2024 in a tertiary hospital in Hefei were selected as the research subjects by convenience sampling method,and the general information questionnaire,Productive Engagement Scale and Demoralization Scale-Ⅱ were used for investigation.Using multiple stratified regression analysis to explore the impact of participation in productive activities on dementia syndrome in elderly patients with chronic diseases,and conducting threshold effect analysis.Results 341 valid questionnaires were collected.The score of demoralization syndrome in elderly patients with chronic diseases was 14.00(11.00,17.00),and the score of productive engagement was 37.00(29.50,46.00).Stratified regression analysis showed that productive engagement could independently explain 8.7％of the variance(P＜0.05).Curve fitting and threshold effect analysis showed that the degree of demoralization syndrome was not affected when the score of productive engagement of elderly patients with chronic diseases was ≤27 points(P＞0.05),and it was decreased with the increasing of productive engagement score＞27 points(P＜0.001).Conclusion The demoralization syndrome of elderly patients with chronic diseases were in the middle level,and productive engagement is negatively correlated with demoralization syndrome.Healthcare professionals can improve the level of demoralization syndrome by encouraging elderly patients with chronic diseases to actively participate in productive engagement activities.

Aim To investigate the role of corylin in angiotensin Ⅱ(Ang Ⅱ)-induced cardiomyocyte hy-pertrophy and its underlying mechanisms.Methods An Ang Ⅱ-induced cardiomyocyte hypertrophy model was established and treated with corylin.Real-time PCR was employed to assess hypertrophic gene mRNA expression,and immunofluorescence was used to meas-ure cardiomyocyte surface area.Western blot and en-zyme activity assay kits were used to evaluate SIRT1 expression and activity.Results Corylin markedly mitigated Ang Ⅱ-induced hypertrophic gene expression and cardiomyocyte surface area enlargement.Moreo-ver,it prevented the Ang Ⅱ-mediated decline in SIRT1 protein levels and deacetylase activity.Further investi-gation indicated that corylin inhibited Ang Ⅱ-driven NF-κB transcriptional activity and the expression of its downstream target genes,such as TNF-α,IL-6,and IL-1β.Notably,SIRT1 silencing abolished the protective effects of corylin against cardiomyocyte hypertrophy,as well as its regulation of the SIRT1/NF-κB signaling pathway.Conclusion Corylin suppresses cardiomyo-cyte hypertrophy by modulating the SIRT1-dependent NF-κB signaling pathway.

Objective To compare the blood flow perfusion area in different retinal vascular plexuses between adults and children using swept-source optical coherence tomography angiography(SS-OCTA)and explore the correlation of the retinal blood flow perfusion area with spherical equivalent(SE)and axial length(AL).Methods A total of 112 partici-pants,including 58 children(116 eyes,aged 8-13 years)and 54 adults(108 eyes,aged 18-30 years),were recruited from Eye Hospital,Wenzhou Medical University from December 2020 to December 2024.Based on SE,these children and adults were further divided into the emmetropia(-0.50＜SE ≤+0.50 D),low myopia(-3.00＜SE≤-0.50 D),and moderate myopia(-6.00＜SE≤-3.00 D)groups.SS-OCTA was used to acquire the perfusion area data across retinal vascular layers.The inner vascular network of the retina was subdivided into the peripapillary radial vascular network,su-perficial vascular plexus(SVP),middle vascular plexus(MVP),and deep vascular plexus(DVP).The blood flow perfu-sion areas across retinal vascular layers were compared between adults and children.Pearson correlation analysis was per-formed to assess the correlation of the blood flow perfusion areas across retinal vascular layers with AL and SE in adults and children,respectively.Results SE was negatively correlated with AL in both adults and children(r=-0.781 and-0.667,respectively;both P＜0.001).The total inner retinal perfusion area was negatively correlated with AL in both adults and children(r=-0.239 and-0.299,respectively;both P＜0.05).In children,the perfusion area in the peripapil-lary radial vascular network,SVP,and DVP was negatively correlated with AL(r=-0.443,-0.315,and-0.220,respec-tively;all P＜0.05).In adults,the perfusion area in SVP,MVP,and DVP was negatively correlated with AL(r=-0.243,-0.230,and-0.364,respectively;all P＜0.05).Adults with low/moderate myopia exhibited a significantly larger perfu-sion area in the peripapillary radial vascular network compared with children with corresponding myopia levels,and the differences were statistically significant(both P＜0.001).Conclusion There were significant differences in the perfu-sion area of the peripapillary radial vascular network between adult and pediatric myopic patients.AL showed the strongest correlations with the perfusion area of the peripapillary radial vascular network in adults and the perfusion area of DVP in children,respectively,suggesting distinct effects of retinal vascular layers at different stages of ocular growth.

Objective To investigate changes in the microRNA expression profiles of apoptotic vesicles(apoVs)derived from bone marrow mesenchymal stem cells(BMSCs)under a simulated negative pressure environment,and to provide a theoretical basis for understanding the mechanism by which mechanical stress microenvironments influence the progression of osteoarthritis.Methods A negative pressure cellular environment was established using a pressure-loading system.Cell viability and apoptosis were assessed via the CCK-8 assay,Western blotting,and Annexin V-FITC/PI double staining.ApoVs were isolated by differential centrifugation and characterized using transmission electron microscopy(TEM),nanoparticle tracking analysis(NTA),and Western blotting.Small RNA sequencing was performed using the HiSeq Single-End mode,and differential expression analysis of microRNAs was conducted using DESeq to screen for differentially expressed microRNAs.The differentially screened microRNAs were validated by real-time quantitative PCR.After treating BMSCs with inhibitors of these differentially expressed microRNAs,the effects of the screened microRNAs on BMSCs were detected.Results Compared to apoVs generated by BMSCs under STS chemical treatment,those produced under a-40 kPa pressure environment showed significantly upregulated miR-183-5p and downregulated miR-3473.GO and KEGG enrichment analyses revealed that these differentially expressed microRNAs affected cell activity and inflammatory responses through multiple signaling pathways.Inhibition of miR-183-5p and miR-3473 expression reduced the proliferative activity of BMSCs.After inhibiting miR-183-5p expression,the levels of inflammatory factors increased.Inhibition of miR-3473 expression did not alter the IL-6 expression level,but significantly increased the TNFα expression level.Conclusions MicroRNAs specifically expressed in BMSC-derived apoVs under negative pressure stimulation may act as critical mechanical signaling mediators,regulating inflammatory response processes to participate in the pathogenesis and progression of arthritis.