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.

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.

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.

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.

Studies have suggested that the nucleus accumbens (NAc) is implicated in the pathophysiology of major depression; however, the regulatory strategy that targets the NAc to achieve an exclusive and outstanding anti-depression benefit has not been elucidated. Here, we identified a specific reduction of cyclic adenosine monophosphate (cAMP) in the subset of dopamine D1 receptor medium spiny neurons (D1-MSNs) in the NAc that promoted stress susceptibility, while the stimulation of cAMP production in NAc D1-MSNs efficiently rescued depression-like behaviors. Ketamine treatment enhanced cAMP both in D1-MSNs and dopamine D2 receptor medium spiny neurons (D2-MSNs) of depressed mice, however, the rapid antidepressant effect of ketamine solely depended on elevating cAMP in NAc D1-MSNs. We discovered that a higher dose of crocin markedly increased cAMP in the NAc and consistently relieved depression 24 h after oral administration, but not a lower dose. The fast onset property of crocin was verified through multicenter studies. Moreover, crocin specifically targeted at D1-MSN cAMP signaling in the NAc to relieve depression and had no effect on D2-MSN. These findings characterize a new strategy to achieve an exclusive and outstanding anti-depression benefit by elevating cAMP in D1-MSNs in the NAc, and provide a potential rapid antidepressant drug candidate, crocin.

Objective To investigate the feasibility and early efficacy of transapical transcatheter aortic valve replacement (TAVR) combined with transcatheter mitral valve edge-to-edge repair (TEER) in patients with high-risk aortic valve lesions combined with severe mitral regurgitation. Methods The clinical data of patients who underwent "one-stop" transapical TAVR+TEER in our hospital from August 2022 to October 2023 were retrospectively analyzed. Results Five patients were collected, including 3 males and 2 females with a mean age of 66.6±1.8 years. Four patients had aortic valve insufficiency combined with mitral regurgitation and one had aortic valve stenosis and insufficiency combined with mitral regurgitation. All patients successfully completed transapical TAVR+TEER, and the immediate postoperative echocardiographic results revealed that none of them had more than mild perivalvular leakage and mitral regurgitation, and the prosthetic valves were in good position and function. At 1 week postoperatively, echocardiographic results showed 5 patients with no displacement of the prosthetic valve, detachment of the mitral clip, or damage to the leaflets. At 1 month postoperatively, cardiac function was improved to varying degrees in 4 patients, and 1 patient died of multiorgan failure. At 2 months postoperatively, 1 patient died of cerebrovascular accident, and at 3 months postoperatively the echocardiographic results of the remaining 3 patients revealed that there was no more than mild perivalvular leakage or mitral regurgitation, and the patients' postoperative cardiac function and daily life ability were significantly improved. Conclusion In high-risk aortic valve lesions combined with severe mitral regurgitation, "one-stop" transapical TAVR+TEER is feasible with favorable early efficacy and safety.

Objective To observe the value of 18F-FDG PET/CT semi-quantitative parameters for predicting spread through air spaces(STAS)of clinical stage Ⅰa—Ⅲa lung adenocarcinoma.Methods Data of 85 patients with clinical stage Ⅰa—Ⅲ a lung adenocarcinoma who underwent preoperative 18F-FDG PET/CT were retrospectively analyzed.The patients were divided into positive group(n=23)or negative group(n=62)according to whether pathology showed STAS or not.Clinical and PET/CT data were compared between groups,and logistic analysis was performed to explore the efficacy of each parameter for predicting STAS.Results Significant differences of gender,carcinoma embryonic antigen,clinical stage,pathological grade,micropapillary growth and proportion were found between groups(all P＜0.05).The maximum,the mean,the peak standard uptake value(SUVmax,SUVmean,SUVpeak),as well as the maximum,the mean and the peak standard uptake value normalized by lean body mass(SULmax,SULmean,SULpeak),also the total lesion glycolysis(TLG)in positive group were all significantly higher than those in negative group(all P＜0.05).Patients'gender,proportion of micropapillary growth,SUVmax and SULmax were all independent risk factors of STAS of clinical stage Ⅰa—Ⅲa lung adenocarcinoma.The area under the curve(AUC)of the above parameters for predicting STAS was 0.666,0.912,0.839 and 0.842,respectively,and of the combination was 0.957.Conclusion 18 F-FDG PET/CT semi-quantitative parameters SUVmax and SULmax were helpful for predicting STAS of clinical stage Ⅰa—Ⅲ a lung adenocarcinoma,and further combination of gender and proportion of micropapillary growth could improve diagnostic efficacy.

Objective:To explore the relationship between serum uric acid trajectory and the progression of renal function in individuals aged 60 and above.Methods:This study was a retrospective cohort study. Individuals aged 60 years and above who received health checkups in Beijing Friendship Hospital, Capital Medical University, from March 2015 to December 2023 and met the criteria of baseline estimated glomerular filtration rate (eGFR)≥60 ml·min -1·(1.73 m 2) -1, were selected as the research subjects. The serum uric acid data of multiple measurements were collected and identified as different serum uric acid trajectories by group-based trajectory modeling (GBTM). According to the serum uric acid trajectories, the subjects were divided into a low trajectory group (101 cases), a middle trajectory group (176 cases), and a high trajectory group (86 cases). Cox regression analysis was used to examine the effect of serum uric acid trajectory on the progression of renal function in the elderly. Results:A total of 363 elderly were included. The mean follow-up time was 8.1 years. At the end of the follow-up, a total of 50 elderly individuals had experienced varying degrees of renal function decline. After adjusting for multiple confounding factors by Cox regression analysis, the risks of eGFR<60 ml·min -1·(1.73 m 2) -1, eGFR reduction rate ≥25% and composite endpoints [eGFR <60 ml·min -1·(1.73 m 2) -1, eGFR reduction rate ≥25% or >3 ml·min -1·(1.73 m 2) -1·year -1] in the high trajectory group were significantly higher than those in the low trajectory group, with an HR of 4.54 (95% CI:1.47-20.76), 3.75 (95% CI:1.06-21.21), and 3.74 (95% CI:1.44-115.59), respectively. In addition, there was no significant difference between baseline serum uric acid and renal function progression (all P>0.05). Conclusion:The high serum uric acid trajectory increases the risk for the progression of renal function in individuals aged 60 and above.

Pregnancy ; Female ; Humans ; Pre-Eclampsia/epidemiology* ; Prenatal Exposure Delayed Effects ; Case-Control Studies ; China/epidemiology* ; Fluorocarbons/toxicity*