Frontiers of Medicine最新文献_第2页

Crigler-Najjar syndrome type 2 complicating cholecystitis in a patient with UGT1A1 gene double homozygous mutations. 1例UGT1A1基因双纯合突变患者的Crigler-Najjar综合征2型合并胆囊炎

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-07-05 DOI: 10.1007/s11684-025-1142-6

Jianhui Zhang, Rongrong Chen, Xiang Chen, Ying Chen, Qilin Chen, Shiyun Lu, Jiewei Luo, Xiaoling Zheng, Mengshi Chen

{"title":"Crigler-Najjar syndrome type 2 complicating cholecystitis in a patient with UGT1A1 gene double homozygous mutations.","authors":"Jianhui Zhang, Rongrong Chen, Xiang Chen, Ying Chen, Qilin Chen, Shiyun Lu, Jiewei Luo, Xiaoling Zheng, Mengshi Chen","doi":"10.1007/s11684-025-1142-6","DOIUrl":"10.1007/s11684-025-1142-6","url":null,"abstract":"Crigler-Najjar syndrome (CNS) and Gilbert syndrome (GS; OMIM: 143500) are rare autosomal recessive diseases that cause unconjugated hyperbilirubinemia due to decreased UGT1A1 enzyme activity. Crigler-Najjar syndrome type 2 (CNS2; OMIM: 606785) increases the risk of gallbladder stone formation and cholecystitis, while GS seldom causes health issues. We found a 28-year-old male patient with recurring right upper abdomen pain who experienced persistent jaundice from birth. CNS2 with gallbladder stones and cholecystitis was diagnosed after genetic testing revealed rare double homozygous mutations A(TA)7TAA (rs3064744) and P229Q (rs35350960) in the UGT1A1 gene. After pedigree investigation, we found that the patient's parents with modestly increased bilirubin had compound heterozygous mutations A(TA)7TAA and P229Q, which were GS. Bioinformatics analysis showed that A(TA)7TAA is in the TATA-box region of the gene UGT1A1 promoter, affecting gene transcriptional initiation, whereas P229Q modifies protein three-dimensional structure and may be harmful. In this pedigree, double homozygous mutations have a more severe phenotype than compound heterozygous mutations. Inherited causes of hyperbilirubinemia should be suspected after ruling out biliary obstruction, and early bilirubin reduction (< 103 µmol/L (6 mg/dL)) may reduce the risk of complications like cholecystitis in CNS2 patients, though further studies with longer follow-up are needed to confirm this observation.","PeriodicalId":12558,"journal":{"name":"Frontiers of Medicine","volume":" ","pages":"675-680"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Suppressing DBNDD2 promotes neuron growth and axon regeneration in adult mammals. 抑制DBNDD2可促进成年哺乳动物神经元生长和轴突再生。

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-07-14 DOI: 10.1007/s11684-025-1146-2

Lan Zhang, Yucong Wu, Zhuheng Zhong, Tianyun Chen, Yuyue Qian, Sheng Yi, Leilei Gong

{"title":"Suppressing DBNDD2 promotes neuron growth and axon regeneration in adult mammals.","authors":"Lan Zhang, Yucong Wu, Zhuheng Zhong, Tianyun Chen, Yuyue Qian, Sheng Yi, Leilei Gong","doi":"10.1007/s11684-025-1146-2","DOIUrl":"10.1007/s11684-025-1146-2","url":null,"abstract":"Effective axon regeneration is essential for the successful restoration of nerve functions in patients suffering from axon injury-associated neurological diseases. Certain self-regeneration occurs in injured peripheral axonal branches of dorsal root ganglion (DRG) neurons but does not occur in their central axonal branches. By performing rat sciatic nerve or dorsal root axotomy, we determined the expression of the dysbindin domain containing 2 (DBNDD2) in the DRGs after the regenerative peripheral axon injury or the non-regenerative central axon injury, respectively, and found that DBNDD2 is down-regulated in the DRGs after peripheral axon injury but up-regulated after central axon injury. Furthermore, we found that DBNDD2 expression differs in neonatal and adult rat DRGs and is gradually increased during development. Functional analysis through DBNDD2 knockdown revealed that silencing DBNDD2 promotes the outgrowth of neurites in both neonatal and adult rat DRG neurons and stimulates robust axon regeneration in adult rats after sciatic nerve crush injury. Bioinformatic analysis data showed that transcription factor estrogen receptor 1 (ESR1) interacts with DBNDD2, exhibits a similar expression trend as DBNDD2 after axon injury, and may targets DBDNN2. These studies indicate that reduced level of DBNDD2 after peripheral axon injury and low abundance of DBNDD2 in neonates contribute to axon regeneration and thus suggest the manipulation of DBNDD2 expression as a promising therapeutic approach for improving recovery after axon damage.","PeriodicalId":12558,"journal":{"name":"Frontiers of Medicine","volume":" ","pages":"636-652"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144625968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Premature mortality projection for diabetes to 2030: a subnational evaluation towards the Healthy China 2030 Goals. 2030年糖尿病过早死亡率预测：对健康中国2030目标的地方评估。

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-06-23 DOI: 10.1007/s11684-025-1141-7

Hongrui Zhao, Zhenping Zhao, Xuan Yang, Yuchang Zhou, Ainan Jia, Jiangmei Liu, Peng Yin, Yamin Bai, Zhenxing Yang, Maigeng Zhou, Xiujuan Zhang

{"title":"Premature mortality projection for diabetes to 2030: a subnational evaluation towards the Healthy China 2030 Goals.","authors":"Hongrui Zhao, Zhenping Zhao, Xuan Yang, Yuchang Zhou, Ainan Jia, Jiangmei Liu, Peng Yin, Yamin Bai, Zhenxing Yang, Maigeng Zhou, Xiujuan Zhang","doi":"10.1007/s11684-025-1141-7","DOIUrl":"10.1007/s11684-025-1141-7","url":null,"abstract":"The Healthy China 2030 Plan set the goal of reducing premature deaths from diabetes by 30% by 2030. However, there has been a lack of assessment of premature mortality for diabetes since the action plan was issued. This study used data from the Global Burden of Disease Study 2021, calculated the premature deaths for diabetes by sex, provinces, and subtypes from 1990 to 2021. We explored the temporal trend of premature mortality using the average annual percent change (AAPC) for different sexes, provinces, and subtypes from 1990 to 2021. Furthermore, we predicted premature mortality for diabetes through 2030 for China and its provinces according to the average annual change rate from 2010 to 2021. There was a first slow upward trend in premature mortality for diabetes from 0.5% in 1990 to 0.6% in 2004, and then a decline until 2021 with premature mortality of 0.4%. By 2030, only Fujian (30.3%) will achieve the desired level of reduction, with only seven provinces meeting the target for females and none for males. There is a large range in the degree of decline between inland and coastal regions, showing obvious geographic differences, and there should be a focus on balancing medical resources.","PeriodicalId":12558,"journal":{"name":"Frontiers of Medicine","volume":" ","pages":"626-635"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144474799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ALKBH5 exacerbates psoriatic dermatitis in mice by promoting angiogenesis. ALKBH5通过促进血管生成加重小鼠银屑病皮炎。

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-06-16 DOI: 10.1007/s11684-025-1147-1

Chengfang Zhang, Fei Li, Bao Chai, Jian Jiang, Yinlian Zhang, Xuemei Li, Jingyu Zhang, Yuqiong Huang, Zilin Jin, Yixuan Wang Wan, Suwen Liu, Nan Yu, Hongxiang Chen

{"title":"ALKBH5 exacerbates psoriatic dermatitis in mice by promoting angiogenesis.","authors":"Chengfang Zhang, Fei Li, Bao Chai, Jian Jiang, Yinlian Zhang, Xuemei Li, Jingyu Zhang, Yuqiong Huang, Zilin Jin, Yixuan Wang Wan, Suwen Liu, Nan Yu, Hongxiang Chen","doi":"10.1007/s11684-025-1147-1","DOIUrl":"10.1007/s11684-025-1147-1","url":null,"abstract":"Psoriasis is a chronic inflammatory skin disease, and its pathogenesis is largely modulated by abnormal angiogenesis. Previous research has indicated that AlkB homolog 5 (ALKBH5), an important demethylase affecting N6-methyladenosine (m6A) modification, plays a role in regulating angiogenesis in cardiovascular and eye diseases. Our present study found that ALKBH5 was upregulated and co-localized with cluster of differentiation 31 (CD31) in the skin of IMQ group compared with control group. ALKBH5-deficient mice decreased IMQ-induced psoriatic dermatitis and exhibited histological improvements, including decreased epidermal thickness, hyperkeratosis, numbers of dermal capillary vessels and inflammatory cell infiltration. ALKBH5-KO mice alleviated angiogenesis in psoriatic lesions by downregulating the protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway. Additionally, the expression of ALKBH5 was significantly upregulated in IL-17A-induced human umbilical vein endothelial cells (HUVECs), which further promoted the expression of angiogenesis-related cytokines and endothelial cell proliferation. Cell proliferation and angiogenesis were suppressed in ALKBH5 knockdown group, whereas ALKBH5 overexpression promoted these processes. The regulation of angiogenesis in HUVECs by ALKBH5 was facilitated through the AKT-mTOR pathway. Collectively, ALKBH5 plays a pivotal role in psoriatic dermatitis and angiogenesis, which may offer a new potential targets for treating psoriasis.","PeriodicalId":12558,"journal":{"name":"Frontiers of Medicine","volume":" ","pages":"653-664"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Developing a polygenic risk score for pelvic organ prolapse: a combined risk assessment approach in Chinese women. 开发盆腔器官脱垂的多基因风险评分：中国妇女的综合风险评估方法。

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-05-03 DOI: 10.1007/s11684-024-1114-2

Xi Cheng, Lei Li, Xijuan Lin, Na Chen, Xudong Liu, Yaqian Li, Zhaoai Li, Jian Gong, Qing Liu, Yuling Wang, Juntao Wang, Zhijun Xia, Yongxian Lu, Hangmei Jin, Xiaowei Zhang, Luwen Wang, Juan Chen, Guorong Fan, Shan Deng, Sen Zhao, Lan Zhu

{"title":"Developing a polygenic risk score for pelvic organ prolapse: a combined risk assessment approach in Chinese women.","authors":"Xi Cheng, Lei Li, Xijuan Lin, Na Chen, Xudong Liu, Yaqian Li, Zhaoai Li, Jian Gong, Qing Liu, Yuling Wang, Juntao Wang, Zhijun Xia, Yongxian Lu, Hangmei Jin, Xiaowei Zhang, Luwen Wang, Juan Chen, Guorong Fan, Shan Deng, Sen Zhao, Lan Zhu","doi":"10.1007/s11684-024-1114-2","DOIUrl":"10.1007/s11684-024-1114-2","url":null,"abstract":"Pelvic organ prolapse (POP), whose etiology is influenced by genetic and clinical risk factors, considerably impacts women's quality of life. However, the genetic underpinnings in non-European populations and comprehensive risk models integrating genetic and clinical factors remain underexplored. This study constructed the first polygenic risk score (PRS) for POP in the Chinese population by utilizing 20 disease-associated variants from the largest existing genome-wide association study. We analyzed a discovery cohort of 576 cases and 623 controls and a validation cohort of 264 cases and 200 controls. Results showed that the case group exhibited a significantly higher PRS than the control group. Moreover, the odds ratio of the top 10% risk group was 2.6 times higher than that of the bottom 10%. A high PRS was significantly correlated with POP occurrence in women older than 50 years old and in those with one or no childbirths. As far as we know, the integrated prediction model, which combined PRS and clinical risk factors, demonstrated better predictive accuracy than other existing PRS models. This combined risk assessment model serves as a robust tool for POP risk prediction and stratification, thereby offering insights into individualized preventive measures and treatment strategies in future clinical practice.","PeriodicalId":12558,"journal":{"name":"Frontiers of Medicine","volume":" ","pages":"665-674"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anti-angiogenic therapy as a beacon of hope in the battle against pulmonary NUT midline carcinoma. 抗血管生成治疗作为对抗肺NUT中线癌的希望灯塔。

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-06-14 DOI: 10.1007/s11684-025-1145-3

Linyan Tian, Siyu Lei, Yaning Yang, Haiyan Xu, Chengming Liu, Yan Wang

{"title":"Anti-angiogenic therapy as a beacon of hope in the battle against pulmonary NUT midline carcinoma.","authors":"Linyan Tian, Siyu Lei, Yaning Yang, Haiyan Xu, Chengming Liu, Yan Wang","doi":"10.1007/s11684-025-1145-3","DOIUrl":"10.1007/s11684-025-1145-3","url":null,"abstract":"Primary pulmonary nuclear protein of the testis (NUT) midline carcinoma (NMC) is a rare and highly aggressive thoracic malignancy that poses significant diagnostic and therapeutic challenges in clinical practice. This tumor is characterized by its heterogeneous clinical presentations and poor prognosis, often evading accurate initial diagnosis. In this study, we present two cases of primary pulmonary NMC treated with an integrated therapeutic approach combining anti-angiogenic agents, platinum-based chemotherapy, and radiotherapy. This multimodal strategy achieved survival durations of 32 and 13 months, respectively, surpassing the currently reported median survival of advanced NMC. Through a systematic literature review of reported cases, we have summarized the currently used diagnostic methods and treatment modalities for NMC. Our findings suggest that multimodal therapy incorporating anti-angiogenic treatment may offer superior clinical outcomes compared to conventional monotherapy regimens, particularly for patients who are not eligible for surgery. This comprehensive investigation enhances our understanding of NMC management by elucidating diagnostic pitfalls through histopathological correlation and proposing an effective therapeutic combination that demonstrates improved survival outcomes. By providing valuable insights into the diagnosis and treatment of primary pulmonary NMC, we hope to contribute to the development of more effective strategies for managing this rare and aggressive malignancy.","PeriodicalId":12558,"journal":{"name":"Frontiers of Medicine","volume":" ","pages":"681-688"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neurokinin-1 receptor antagonists in the current management of chemotherapy-induced nausea and vomiting. 神经激肽-1受体拮抗剂在化疗引起的恶心和呕吐的当前管理。

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-07-05 DOI: 10.1007/s11684-025-1140-8

Haohua Zhu, Song Huang, Xingsheng Hu

引用次数: 0

Development of therapeutic cancer vaccines based on cancer immunity cycle. 基于肿瘤免疫周期的治疗性癌症疫苗的研制。

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-07-14 DOI: 10.1007/s11684-025-1134-6

Jing Zhang, Yiyuan Zheng, Lili Xu, Jing Gao, Ziqi Ou, Mingzhao Zhu, Wenjun Wang

引用次数: 0

Response to "A critical perspective on patient activation through integrative healthcare counselling in oncology", based on the "CCC-Integrativ" study. 对基于“cc - integrativ”研究的“通过肿瘤学综合保健咨询对患者激活的关键观点”的回应。

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-07-05 DOI: 10.1007/s11684-025-1153-3

Jan Valentini, Daniela Froehlich, Cornelia Mahler, Stefanie Joos

引用次数: 0

Betaine: an exercise mimetics for healthy aging? 甜菜碱：健康衰老的运动模拟剂？

IF 3.5 3区医学

Frontiers of Medicine Pub Date : 2025-08-01 Epub Date: 2025-07-21 DOI: 10.1007/s11684-025-1157-z

Yiliang Zhang, Xiaomin Liu, Yan Wang

引用次数: 0