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.

This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the ADA2 gene (paternal c.1072G > A pathogenic mutation + maternal c.1065C > A variant of unknown clinical significance). ADA2 enzyme activity was significantly reduced (0.1 U/L). A multidisciplinary treatment team developed an individualized plan to address key issues, including nutritional support, blood pressure control, rehabilitation, pain management, and balancing anticoagulation/bleeding risks. After systematic intervention, the patient′s condition showed partial improvement. This case reveals clinical challenges such as anticoagulation decisions and nutritional support of DADA2. It also emphasizes the importance of early molecular diagnosis, tumor necrosis factor-α inhibitor targeted therapy, and multidisciplinary collaboration in management, underlining the core value of precision medicine in rare disease management.

Objective: To analyze the status and trends of the disease burden of periodontal disease among women of reproductive age (15-49 years) in China from 1990 to 2021, and to provide a reference for the development of periodontal disease prevention and control strategies for women of reproductive age. Methods: Using the global burden of disease (GBD) data from 1990 to 2021, this study investigated the periodontal disease burden among women of reproductive age, including prevalence, incidence, disability-adjusted life years (DALYs), DALY rates, and their corresponding standardized indicators. Joinpoint 5.2.0.0 software was used for time trend analysis of DALYs, age-specific DALY rates, and annual average percentage change (AAPC) values. A log-linear regression model was used to test trends for DALYs and DALY rates. Results: Compared with 1990, the prevalence and incidence of periodontal disease among Chinese women in 2021 increased by 45.67% (per 100,000 people) and 29.29% (per 100,000 people), respectively. The distribution of periodontal disease among women (15-49 years) showed a continuous and rapid upward trend, with the growth rate increasing rapidly with age. The number of cases increased the fastest in the 45-49 age group, and the prevalence increased the fastest in the 35-44 age group. The incidence of periodontal disease continued to rise with age, with the fastest increase in the 35-44 age group among women of reproductive age. The Joinpoint regression model results showed that periodontal disease led to an expanding trend in the disease burden among women of reproductive age in China, with an AAPC of DALYs = 1.20% and an AAPC of DALY rate = 1.25% (P<0.001). Conclusion The periodontal disease burden among Chinese women aged 15-49 years showed a gradually increasing trend from 1990 to 2021.

Cognitive decline is an early sign of dementia, mainly manifested as the ability to learn new knowledge and memory decline in the near future, so early detection, early diagnosis, early treatment are an important research direction to alleviate dementia population. Previous studies have shown that blood pressure variability (BPV) is an important risk factor for cognitive decline. At present, there is a lack of systematic understanding of the specific effects of BPV on different subdomains of cognitive function and the treatment standard of BPV. This paper reviews the existing clinical studies, emphasizes that abnormal BPV causes adverse cognitive outcomes in all age groups, and proposes future research directions.

Anticipatory anxiety is a negative emotion that arises when individuals encounter potential threats or uncertainties in the future. It is the core symptom of a variety of anxiety disorders, and is closely associated with the occurrence, severity, treatment outcome, and prognosis of anxiety disorders, which has garnered a growing amount of focus in clinical practice. Nevertheless, scientific research on anticipatory anxiety continues to face obstacles such as unclear pathological mechanisms, the absence of simple and consistent self-assessment tools, and effective interventions. To improve understanding of the role of anticipatory anxiety in the diagnosis and treatment of anxiety disorders, this study reviews pertinent domestic and international literature, and briefly introduces the concept, assessment and measurement, activation paradigm, pathological mechanisms, and interventions of anticipatory anxiety.

Objective:To explore the molecular mechanisms by which miR-101-3p inhibits epithelial-mesenchymal transition(EMT)of gastric cancer cells and M2 polarization of macrophages.Methods:Bioinformatics software was used to analyze the expres-sion of miR-101-3p in gastric cancer and its correlation with survival.Transwell and Western blot were performed to evaluate the effect of miR-101-3p and Anxa2 on the migration,invasion and EMT of gastric cancer cells.Human monocytes(THP-1)were co-cultured with transfected gastric cancer cells.Immunofluorescence and Western blot assays were performed to assess the impact of miR-101-3p and Anxa2 on the expression of M2 macrophage markers CD206 and arginase-1(Arg-1).Immunohistochemistry and Western blot were used to analyze the expression of Anxa2 in gastric cancer tissues and cells.Bioinformatics software,dual-luciferase reporter and West-ern blot were utilized to validate the target relationship between miR-101-3p and Anxa2.Results:Compared with adjacent tissues,the level of miR-101-3p in gastric cancer tissues was significantly reduced and positively correlated with survival.Additionally,the levels of miR-101-3p in gastric cancer cells were significantly lower than those in normal gastric mucosal cells(P<0.01).Overexpression of miR-101-3p in gastric cancer cells significantly reduced their migration and invasion capabilities.This was accompanied by a marked decrease in the expression of N-cadherin and vimentin,and a significant increase in the expression of E-cadherin.In the co-cultured system,overexpression of miR-101-3p in gastric cancer cells significantly inhibited macrophage M2 polarization(P<0.01).Compared with adjacent tissues,the level of Anxa2 was significantly elevated in gastric cancer tissues.Compared with normal gastric mucosal cells,Anxa2 levels were significantly higher in gastric cancer cells(P<0.01).Anxa2 was target gene of miR-101-3p.Overexpression of Anxa2 in gastric cancer cells significantly enhanced their migration and invasion capabilities.In the co-culture system,overexpres-sion of Anxa2 in gastric cancer cells markedly promoted macrophage M2 polarization(P<0.01).Overexpression of Anxa2 could re-verse the inhibitory effects of miR-101-3p on EMT of gastric cancer cells and M2 polarization of macrophages(P<0.01).Conclusion:miR-101-3p regulates Anxa2 to inhibit EMT of gastric cancer cells and M2 polarization of macrophages,thereby suppressing the migra-tion and invasion of gastric cancer cells.

Objective:To investigate the predictive value of the Japanese nutritional risk index(NRI)for one-year all-cause mortality risk among elderly maintenance hemodialysis (MHD)patients.Additionally, it seeks to compare the predictive abilities of NRI with those of the geriatric nutritional risk index (GNRI)and the mini nutritional assessment short-form(MNA-SF).Methods:This research was conducted as a prospective cohort study.Elderly patients(aged ≥60 years)who underwent hemodialysis treatment at Beijing Friendship Hospital of Capital Medical University for more than three months between July and October 2019 were selected for inclusion.The NRI score was utilized to evaluate the nutritional status of the participants, with the maximum point of the Jordan index designated as the cut-off value, thereby categorizing patients into high-risk and low-risk groups.The follow-up period concluded in August 2020, with all-cause mortality serving as the primary outcome measure.Kaplan-Meier methods were employed to construct survival curves, and the Cox proportional hazards model was applied to analyze the association between NRI and all-cause mortality.Furthermore, area under the curve(AUC) of receiver operating characteristic(ROC)curves were utilized to compare the predictive values of the three nutritional assessment methods(NRI, GNRI, and MNA-SF)regarding mortality risk.Results:A total of 150 patients were included in the study, with a median age of 69(64.75) years.The cohort comprised 73 males(48.7%)and 77 females(51.3%). Based on the NRI, patients were categorized into a low-risk group(NRI<5; n=81, 54.0%)and a high-risk group(NRI ≥ 5; n=69, 46.0%). Of the 150 patients, 147 completed the follow-up.During the follow-up period, 15 patients died, with 13 from the high-risk group and 2 from the low-risk group.The Kaplan-Meier survival curve indicated that the 1-year cumulative survival rate for patients in the high-risk group was significantly lower than the low-risk group (log-rank χ2=11.71, P<0.001). Furthermore, multivariate Cox regression analysis revealed a significant association between NRI and 1-year all-cause mortality in elderly patients undergoing MHD ( HR=3.779, 95% CI: 1.036-13.783, P=0.044). Additionally, NRI demonstrated a high predictive value for 1-year all-cause mortality risk in elderly MHD patients, with an AUC of 0.755(95% CI: 0.654-0.855), a sensitivity of 86.7%, and a specificity of 59.1%.Its predictive capability was slightly superior to that of the GNRI(AUC=0.691, 95% CI: 0.548-0.835)and the MNA-SF(AUC=0.634, 95% CI: 0.475-0.793), although no statistically significant differences were observed( Z=0.880, 1.177, P=0.379, 0.239). Conclusions:The NRI score demonstrates effective predictive capability for one-year all-cause mortality risk in elderly MHD patients and may serve as a more suitable nutritional assessment method for this population.

Incomplete Miller-Fisher syndrome （MFS） mediated by GT1a antibody often has atypical clinical manifestations and a high misdiagnosis rate. This article reports the diagnosis and treatment of a patient with incomplete MFS mediated by GT1a antibody and discussed clinical manifestations， pathogenesis， and treatment regimens with reference to the relevant literature， so as to improve the understanding of this disease.

Objective To investigate the effect of triglyceride-glucose index(TyG)on the short-term prognosis of patients with initial acute ischemic stroke.Methods A total of 391 patients with initial acute ischemic stroke who were hospitalized in Kunshan Second People's Hospital and The Affiliated Suzhou Hospital of Nanjing Medical University from Jun.2020 to Jun.2023 were retrospectively included.According to the modified Rankin scale(mRS)scores at 90 d follow-up,they were assigned to good prognosis group(286 cases)or poor prognosis group(105 cases).Logistic regression and receiver operating characteristic(ROC)curve were used to evaluate the effect of TyG on the short-term prognosis of patients with initial acute ischemic stroke.Results Compared with the good prognosis group,the patients of poor prognosis group had older age,higher proportion of atrial fibrillation,higher levels of homocysteine,triglyceride,total cholesterol,low-density lipoprotein,and TyG,and higher National Institutes of Health stroke scale(NIHSS)score(all P＜0.05).Multivariate logistic regression analysis showed that age,homocysteine,TyG and NIHSS score were independent risk factors for poor prognosis in patients with initial acute ischemic stroke(all P＜0.05).ROC curve analysis showed that TyG combined with NIHSS score had good predictive value for poor prognosis of patients with initial acute ischemic stroke,and the area under curve value was 0.795.Conclusion The combination of TyG and NIHSS score is an independent influencing factor for poor short-term prognosis in patients with initial acute ischemic stroke.

Objective:To investigate the trajectory of frailty in elderly patients on maintenance hemodialysis(MHD)following SARS-CoV-2 infection and its associated risk factors.Methods:This prospective cohort study focused on elderly patients who underwent baseline frailty assessment(T0)during hemodialysis treatment at Beijing Friendship Hospital for over 3 months between December 1st, 2022, and December 31th, 2022, and were diagnosed with SARS-CoV-2 infection.The Fried Frailty Phenotype was evaluated at 1 month(T1), 3 months(T2), and 6 months(T3)post-infection.Frailty trajectory after infection was analyzed using repeated measurement ANOVA.Patients were divided into stable/improvement or exacerbation groups based on their frailty status at T0 and T3, with logistic regression analysis employed to identify risk factors for different frailty trajectories.Results:A total of 130 elderly maintenance hemodialysis patients, with a median age of 66 years(range: 63-71 years)and 62 males(47.7%), were included in the study.Six months after the infection, a majority of surviving patients saw their frailty scores return to baseline levels.Specifically, 72 patients(55.4%)either maintained or improved to robust or pre-frail states, while 9 patients(6.9%)progressed to a pre-frail state, 18 patients(13.8%)progressed to a frail state, and 31 patients(23.8%)remained in a frail state.Results from multivariate logistic regression analysis indicated that low grip strength( OR: 6.30, 95% CI: 1.48-26.73)and all-cause hospitalization( OR: 5.01, 95% CI: 1.19-21.03)were identified as risk factors for non-frail patients transitioning to frailty( P<0.05). Conclusions:The majority of elderly maintenance hemodialysis patients who survived SARS-CoV-2 infection returned to their baseline level of frailty or showed improvement within 6 months.Non-frail patients with low grip strength or those who were hospitalized were more likely to deteriorate towards frailty.