A case of mitochondrial diabetes mellitus with successful therapeutic response following the initiation of imeglimin [0.03%]
伊格列净治疗线粒体糖尿病的病例报告
Atsushi Ishimura,Satomi Suzuki
Atsushi Ishimura
Mitochondria are present in cells throughout the body and play a crucial role in energy production. They contain their own DNA, and mutations in this DNA can lead to a reduction in pancreatic beta cells and decreased insulin secretion, cont...
Precision grading of surgical strategies for small bowel Crohn's disease: An R0-R3 individualized framework based on lesion severity and functional preservation [0.03%]
基于病变严重程度和功能保护的回肠克罗恩病外科治疗精准分级（R0-R3个体化方案）
Lichao Yang,Zhixian Jiang,Qi Sun et al.
Lichao Yang et al.
Small bowel Crohn's disease (SBCD) presents unique surgical challenges due to segmental lesions and the need to balance radical resection with bowel function preservation. Current guidelines lack standardized surgical classifications, leadi...
Evaluation of pharmacotherapy in sickle cell disease in an Afro- Colombian community: A cross-sectional analytical study in San Basilio de Palenque, Bolívar [0.03%]
哥伦比亚Afro社区镰状细胞病的药物治疗评估：巴里瓦尔省圣巴希lio德帕莱昆克的横断面分析研究
Laura Ahumada,Antistio Alviz,Tulia Gonzalez et al.
Laura Ahumada et al.
Sickle cell disease (SCD) is an orphan and extremely rare condition in Colombia and worldwide. However, a significant number of cases were identified in San Basilio de Palenque, Bolívar, enabling a pharmacotherapeutic follow-up study. This...
Clinical and genetic analysis of ulnar-mammary syndrome caused by a novel TBX3 mutation in a Chinese boy [0.03%]
新TBX3基因突变导致的尺肋发育不全综合征患者的临床及基因分析
Jianmei Yang,Huimin Yu,Yan Sun et al.
Jianmei Yang et al.
Ulnar-mammary syndrome (UMS) is caused by TBX3 mutation and is a disorder characterized by altered limb, breast, tooth, hair, apocrine gland, and genital development. The clinical and genetic data of a 5.5th boy with UMS were carefully anal...
Vimseltinib: A novel colony stimulating factor 1 receptor (CSF1R) inhibitor approved for treatment of tenosynovial giant cell tumors (TGCTs) [0.03%]
维美昔替尼：新型集落刺激因子 1 受体（CSF1R）抑制剂，用于腱鞘巨细胞瘤（TGCT）治疗获批
Fangzhou Dou,Daoran Lu,Jianjun Gao
Fangzhou Dou
A tenosynovial giant cell tumor (TGCT) is a rare benign neoplasm arising from the tendon sheaths, bursae, or synovial lining of joints and is characterized by locally aggressive growth and the potential for recurrent disease. Surgery is sti...
Traditional Chinese medicine for intractable and rare diseases: Research progress and future strategies [0.03%]
难治性罕见病的中医药研究进展与未来策略展望
Yuanzheng Liu,Yanming Ren,Peipei Song
Yuanzheng Liu
Rare diseases have become a global public health challenge due to their low prevalence, difficult diagnosis, and limited treatment options. Intractable diseases are more common but often involve complex mechanisms, treatment with limited ef...
Frailty in older adults: A systematic review of risk factors and early intervention pathways [0.03%]
老年人衰弱的系统评价：风险因素和早期干预路径
Yi Deng,Katsuya Yamauchi,Peipei Song et al.
Yi Deng et al.
Frailty is an independent risk factor linked to a higher likelihood of various diseases. With limited healthcare resources worldwide - especially in developing countries - the factors that contribute to frailty need to be understood across ...
Pathonign variants in recessive disorders: How extremely hypomorphic variants can be pathogenic and benign depending on the allele in trans [0.03%]
反式等位基因决定的隐性遗传病中低外显率突变的致病性分析
Alexandre Fabre,Paul Guerry
Alexandre Fabre
In recessive monogenic diseases, individuals with a single pathogenic variant are typically asymptomatic and symptomatic disease is only observed in patients with two pathogenic variants. Assuming that disease only occurs where protein conc...
Artificial intelligence applications in rare and intractable diseases: Advances, challenges, and future directions [0.03%]
人工智能在罕见病和难治性疾病中的应用：进展、挑战与未来方向
Kenji Karako
Kenji Karako
Rare and intractable diseases affect an estimated 3.5% to 5.9% of the global population but remain largely underserved in terms of diagnosis and treatment, with effective therapies available for only about 5% of conditions. This paper prese...
Zhimeng Cheng,Chao Wang,Yulong Cai
Zhimeng Cheng
Primary rectal malignant melanoma with schistosomiasis is extremely rare. To date, only a few cases have been reported in the literature. Due to its high mortality rate, most patients with rectal malignant melanoma die within five years of ...