To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

In recent years， hyperuricemia （HUA） has shown a rapidly increasing incidence and tends to occur in increasingly young people， with a wide range of cardiac， renal， joint， and cancerous hazards and all-cause mortality associations. Western medicine treatment has limitations such as large liver and kidney damage， medication restriction， and easy recurrence. The intestine is the major extra-renal excretion pathway for uric acid （UA）， and the intestinal microecology can be regulated to promote UA degradation. It offers great potential to develop UA-lowering strategies that target the intestinal microecology， which are promising to provide safer and more effective therapeutic approaches. Traditional Chinese medicine （TCM） can treat HUA via multiple targets and multiple pathways from a holistic view， with low toxicity and side effects. Studies have shown that intestinal microecology is a crucial target for TCM in the treatment of HUA. However， its specific mechanism of action has not been fully elucidated. Focusing on the key role of intestinal microecology in HUA， this review explores the relationship between intestinal microecology and HUA in terms of intestinal flora， intestinal metabolites， intestinal UA transporters， and intestinal barriers. Furthermore， we summarize the research progress in TCM treatment of HUA by targeting the intestinal microecology， with the aim of providing references for the development of TCM intervention strategies for HUA and the direction of future research.

Objective : To investigate the diagnostic value of combined detection of folate receptor-positive circulat- ing tumor cells ( FR + -CTCs) and hemostatic function indicators in improving the diagnosis of gastrointestinal tumors ( GITs) metastasis． Methods: A retrospective analysis was conducted on the clinical data of 115 patients aged 18 to 80 years who were diagnosed with gastrointestinal tumors via pathology and received treatment，including data on FR + -CTCs，hemostatic function indicators，and pathological staging．The collected data encompassed FR + -CTCs levels，coagulation parameters，and pathological staging．Statistical analysis included t-tests，chi-square tests，fish- er ’s exact test，Logistic regression analysis，and receiver operating characteristic ( ROC) curves to assess the diag- nostic value of combined FR + -CTCs and coagulation parameters in detecting tumor metastasis． Results: FR + -CTCs levels and positive rates demonstrated significant associations with clinicopathological characteristics ( gender，histo- logical type，N staging) in GITs patients ( P＜0. 05) ．In patients with metastasis，elevated fibrinogen levels were observed．Adithonallly，platelet counts showed significant increases in N1 －N3 stages ( P＜0. 05) ．Logistic regres- sion analysis showed that PLT and antithrombin Ⅲ ( AT-Ⅲ) were independent risk factors for GITs metastasis ( P＜0. 05) ． The areas under the ROC curves for predicting GITs metastasis were 0. 678 ( 95% CI: 0. 540 - 0. 816) and 0. 664 ( 95% CI: 0. 512 －0. 815) ，respectively．When combining multiple factors，including FR + - CTCs，PLT，AT-Ⅲ , pathological type，FIB，TT，and gender，for the diagnosis of GITs metastasis，the AUC in- creased to 0. 757 ( 95% CI: 0. 621 －0. 893) ，indicating higher sensitivity and specificity compared to using each indicator alone． Conclusion The combined detection of FR + -CTCs and anticoagulation function indicators has a higher diagnostic value for the diagnosis of GITs，providing a valuable basis for the early diagnosis of GITs，espe- cially in metastasis surveillance．

Objective To investigate the association between birth weight and dementia risk and the mediating roles of chronic diseases,and to assess potential biological pathways underlying the birth weight-associated dementia risk based on large-scale proteomics.Methods We used data from 279 743 participants aged 40 to 69 years enrolled in the UK Biobank.Birth weight was categorized into low birth weight(≤2 500 g),normal birth weight(2 500-3 999 g),and macrosomia(≥4 000 g).Multivariable Cox proportional hazards regression models were used to assess the associations between birth weight categories and all-cause dementia and its subtypes(Alzheimer's disease and vascular dementia).Proteomics analyses were conducted to identify proteins and the potential pathways involved.Results Low birth weight was associated with higher risks for all-cause dementia and its subtypes.The hazard ratios were 1.18(95%CI,1.08-1.30)for all-cause dementia,1.14(95%CI,1.00-1.31)for Alzheimer's disease,and 1.22(95%CI,1.01-1.48)for vascular dementia.A non-linear relationship was observed between birth weight and dementia risk(P for nonlinearity<0.001).Certain cardiometabolic diseases in middle-aged adults,such as diabetes,stroke,hypertension,and dyslipidemia,played a significant mediating role in the relationship between low birth weight and dementia risk,with the mediation proportion being 6.3%to 15.8%.Proteomic analyses identified 21 proteins linked to both low birth weight and all-cause dementia risk,which were significantly enriched in the pathways for viral protein interaction with cytokines and cytokine receptors,adipocytokine signaling,and cytokine-cytokine receptor interaction.Conclusion Low birth weight is positively associated with dementia risk.Cardiometabolic diseases in middle-aged adults may mediate the relationship between low birth weight and dementia risk.A number of proteins and the associated pathways underscore the relationship between low birth weight and dementia risk.

Chronic cerebral hypoperfusion (CCH) plays an important role in the occurrence and development of vascular dementia (VD). Recent studies have indicated that multiple stages of immune-inflammatory response are involved in the process of cerebral ischemia, drawing increasing attention to immune therapies for cerebral ischemia. This study aims to identify potential immune therapeutic targets for CCH using bioinformatics methods from an immunological perspective. We identified a total of 823 differentially expressed genes associated with CCH, and further screened for 9 core immune-related genes, namely RASGRP1, FGF12, SEMA7A, PAK6, EDN3, BPHL, FCGRT, HSPA1B and MLNR. Gene enrichment analysis showed that core genes were mainly involved in biological functions such as cell growth, neural projection extension, and mesenchymal stem cell migration. Biological signaling pathway analysis indicated that core genes were mainly involved in the regulation of T cell receptor, Ras and MAPK signaling pathways. Through LASSO regression, we identified RASGRP1 and BPHL as key immune-related core genes. Additionally, by integrating differential miRNAs and the miRwalk database, we identified miR-216b-5p as a key immune-related miRNA that regulates RASGRP1. In summary, the predicted miR-216b-5p/ RASGRP1 signaling pathway plays a significant role in immune regulation during CCH, which may provide new targets for immune therapy in CCH.
Humans ; Computational Biology/methods* ; Brain Ischemia/therapy* ; Immunotherapy ; MicroRNAs/genetics* ; Signal Transduction ; Dementia, Vascular/genetics* ; Chronic Disease

Objective:To investigate the influencing factors for sarcopenia in hospitalized patients,to construct a risk prediction model for sarcopenia in elderly hospitalized patients,and to provide a quantitative tool for early screening and intervention of sarcopenia based on the integration of multi-dimensional indicators.Methods:A retrospective analysis was performed for the data of 2105 elderly patients who were hospitalized in The First Affiliated Hospital of Chongqing Medical University from March 2016 to June 2023.The least absolute shrinkage and selection operator analysis was used for the screening of variables,and the logistic regression analysis was used to investigate the influencing factors for sarcopenia.A predictive model was constructed,and internal and external validation was performed.The Shapley additive explanations model was used to analyze feature contributions,and a nomogram model was constructed to visualize and interpret the results.Results:The 1259 patients from March 2016 to December 2020 were randomly divided into a training set with 882 patients and an internal test set with 377 patients at a ratio of 7∶3,and the 846 patients from January 2021 to June 2023 were established as the external validation set.A total of 489 cases of sarcopenia(55.44%)were detected in the training set.The logistic regression analysis based on the training set showed that asthenia,dependence on Activity of Daily Living,malnutrition,and in-creasing age were risk factors for sarcopenia(odds ratio[OR]>1,P<0.05),and male sex,normal body mass index,and overweight were protective factors against sarcopenia(OR<1,P<0.05).The model had an AUC of 0.876(95%CI=0.854-0.899)in the training set,0.883(95%CI=0.849-0.918)in the internal test set,and 0.750(95%CI=0.717-0.783)in the external validation set,suggesting that the model had good performance.The decision curve analysis showed that the nomogram model had a good clinical value.Conclu-sion:The predictive model for sarcopenia has good performance and holds promise for clinical application.

Objective To retrieve,analyze and synthesize evidence on post-transplant diabetes mellitus(PTDM)in lung transplant patients,providing reference for clinical healthcare professionals in preventing and managing PTDM in lung transplant patients.Methods Based on the"6S"evidence model,systematic searches were conducted across guideline websites,professional associations,and Chinese/English databases regarding post-transplant diabetes mellitus(PTDM)in lung transplant patients.The search period spanned from data-base inception to January 2025.Two researchers independently completed literature screening,quality assess-ment,and evidence extraction.Results A total of 14 articles were included,comprising 1 clinical decision,2 guidelines,5 expert consensuses,2 specifications,1 evidence summary,and 3 systematic reviews.Twenty-four pieces of best evidence were synthesized from seven aspects:risk factors,diagnosis,screening,prevention,treatment,glycemic control targets,and health education.Conclusion The best evidence for preventing and managing post-transplant diabetes mellitus in lung transplant patients provides an evidence-based foundation for clinical practice among healthcare professionals.Evidence should be selected and applied according to spe-cific clinical situations and patient needs.

Objective: To investigate the trend in disease burden of injuries among children and adolescents in China from 1990 to 2021, so as to provide a basis for formulating prevention and control strategies and reducing this disease burden. Methods: Data on mortality, disability-adjusted life years (DALY) rate, incidence, and prevalence of injuries among children and adolescents aged <20 years in China from 1990 to 2021 were collected from the Global Burden of Disease (GBD) 2021 database. All rates were standardized using the GBD 2021 world standard population. The trend in incidence of disease burden of injuries among children and adolescents across differents genders and ages from 1990 to 2021 was evaluated using average annual percent change (AAPC). Results: From 1990 to 2021, the standardized mortality (AAPC=-5.435%), standardized DALY rate (AAPC=-5.311%), standardized incidence (AAPC=-0.466%), and standardized prevalence (AAPC=-0.810%) of injuries among children and adolescents in China showed downward trends (all P<0.05). Among these, the standardized mortality of animal contact (AAPC=-9.138%) and the standardized DALY rate of medical side effects (AAPC=-8.389%) decreased at a relatively fast pace, while the standardized incidence of falls (AAPC=0.083%) and the standardized prevalence of exposure to natural forces (AAPC=2.656%) showed upward trends (all P<0.05). The standardized mortality, standardized DALY rate, standardized incidence and standardized prevalence of injuries were higher in males than in females. The trend in males showed a downward trend (all P<0.05), consistent with the total population. The crude incidence of injuries in the group aged 15-<20 years showed an upward trend (AAPC=0.391%, P<0.05), while the trend in the group aged 10-<15 years was not statistically significant (P>0.05). The crude incidence of injuries in the groups aged 5-<10 years and <5 years showed downward trends (AAPC=-0.488% and -2.275%, both P<0.05). In 2021, the <5 years age group had the highest crude mortality and crude DALY rate of injuries, at 13.94/100 000 and 1 257.26/100 000, respectively. The 15-<20 years age group exhibited the highest crude incidence and crude prevalence, at 4 874.05/100 000and 4 050.35/100 000, respectively. Drowning and falls were major components of the disease burden across all age groups. Conclusions From 1990 to 2021, the disease burden of injuries among children and adolescents in China showed an overall downward trend. The disease burden was consistently higher in males than in females. Children aged <5 years face a high risk of fatality and disability, while adolescents aged 15-<20 years experience a high incidence and frequency of injuries. Drowning and falls were key priorities for prevention and control.

Objective:To evaluate the efficacy of a low-fluence Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser combined with light-emitting diode (LED) phototherapy in the treatment of melasma.Methods:A total of 46 female patients with melasma, with age ranging from 30 to 58 (41.4±5.8) years, were retrospectively collected from August 2022 to February 2024 at the Department of Plastic Surgery, the First Affiliated Hospital of Army Medical University. The patients were divided into two groups according to the treatment method. The experimental group received low-fluence Q-switched Nd:YAG laser treatment combined with LED phototherapy ( n=23), whereas the control group received low-fluence Q-switched Nd:YAG laser treatment alone ( n=23). The treatment interval for both groups was 4 weeks, and a total of four treatments were conducted. Treatment efficacy was evaluated at the 12-week follow-up after completion of the entire treatment course. Pre-treatment and post-treatment melasma area and severity index (MASI) scores were compared between the two groups. The pain visual analog scale (VAS) score was obtained immediately after each treatment. The occurrence of adverse reactions after treatment, including blisters, persistent erythema, hyperpigmentation, hypopigmentation, and scarring, was recorded in both groups. Results:The efficacy rates in the experimental and control groups were 87% (20/23) and 82.61% (19/23), respectively, with no statistically significant difference between them ( P=1.000). The pre-treatment MASI scores of the experimental and control groups were (24.60±8.69) and (21.48±9.01) scores, respectively, with no statistically significant difference between them ( P=0.239). The post-treatment MASI scores of the experimental group was (7.70±4.36) scores, which was significantly lower than that of the control group [(16.34±7.29) scores, P<0.001). In both groups, the post-treatment MASI scores were significantly lower than the pre-treatment MASI scores (all P<0.001). Both groups experienced mild pain during the treatment. The VAS scores for pain during laser treatment in the experimental and control groups were (1.78±0.90) and (1.61±0.89) scores, respectively, with no statistically significant differences between them ( P=0.514). In the experimental group, the VAS score for pain was zero during LED phototherapy, indicating no increase in pain. No adverse reactions such as blisters, persistent erythema, hyperpigmentation, hypopigmentation, or scarring were observed in either group. Conclusion:Low-fluence Q-switched Nd:YAG laser combined with LED phototherapy can effectively improve the efficacy of melasma treatment, without increasing pain or any other serious adverse effects during or after therapy.