Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development [0.03%]
解析性别发育障碍的遗传和病理生理机制
Yundi Wang,Hongjuan Zhao,Hongli Yan et al.
Yundi Wang et al.
Disorders of sex development (DSDs) encompass a spectrum of congenital conditions characterized by discordance among chromosomal, gonadal, and anatomical sex. Advances in genetic and molecular technologies have elucidated a complex landscap...
Secondary musculoskeletal disability and rehabilitation aspects in adults with thalidomide embryopathy: A narrative review [0.03%]
thalidomide致畸影响成人发生继发性肌肉骨骼残疾及康复治疗方面的问题：综述
Nobuhiko Haga,Junko Fujitani,Takeshi Kobayashi et al.
Nobuhiko Haga et al.
To review musculoskeletal disabilities and rehabilitation in adults with thalidomide embryopathy (TE), the authors reviewed the literature related to musculoskeletal disability, quality of life (QOL) and rehabilitation intervention in adult...
Renal oncocytoma mimicking chromophobe renal cell carcinoma: Management using proposed diagnostic algorithm with emphasis on 99mTc-sestamibi SPECT/CT [0.03%]
肾嫌色细胞瘤误诊为透明细胞癌的病例分析：应用诊断流程和强调运用99mTc-MIBI SPECT/CT扫描进行鉴别诊断
Ryan K W Chee,Mitchell P Wilson,Gavin Low
Ryan K W Chee
Renal oncocytomas are benign renal tumours characterized by a central stellate scar that are indistinguishable on CT/MR imaging from malignant chromophobe renal cell carcinomas (ChrRCCs). Renal oncocytomas and ChrRCCs can be separate entiti...
Clinical and genetic analysis of X-linked nephrogenic diabetes insipidus caused by a novel AVPR2 mutation (NM_000054.6:exon3:c.245G>A (p.Cys82Tyr)) in a Chinese boy [0.03%]
AVPR2基因新突变(c.245G>A)导致的X连锁遗传型尿崩症临床及基因分析
Jianmei Yang,Yan Sun,Chen Chen
Jianmei Yang
X-linked nephrogenic diabetes insipidus (X-NDI) is a rare congenital disease caused by inactivating mutations of the vasopressin type-2 receptor (AVPR2), characterized by impaired renal concentrating ability, dramatic polyuria, polydipsia a...
Towards an Asian paradigm of inflammatory bowel disease management: A comparative review of China and Japan [0.03%]
迈向亚洲炎症性肠病管理模式：对中国和日本的比较研究回顾
Qi Sun,Zhixian Jiang,Lichao Yang et al.
Qi Sun et al.
This systematic review compares inflammatory bowel disease (IBD) management between China and Japan across epidemiology, clinical strategies, health insurance, and social security policies. Epidemiologically, the incidence of IBD is rapidly...
The effects of mindfulness-based cognitive behavioral group program for patients with intractable disease and high depression [0.03%]
难治性疾病伴重度抑郁患者正念认知行为小组干预的效果研究
Yukihiko Ueda
Yukihiko Ueda
This study examined the efficacy of a Mindfulness-Based Cognitive Behavioral Group Program (MCBGP) designed to improve the mental health of patients with intractable diseases. Adults (n = 35) with such diseases participated in the study. Th...
Literature analysis and implication of biologic therapy for children with non-systemic juvenile idiopathic arthritis in real-world settings [0.03%]
生物制剂治疗非系统性幼年特发性关节炎患儿的文献分析及启示
Albert Fung,Xiaomeng Yue,Patricia R Wigle et al.
Albert Fung et al.
Juvenile idiopathic arthritis (JIA) is the most common rheumatological disease in children. Besides the more severe systemic form, non-systemic JIA is divided into 5 different subgroups. Polyarticular JIA (polyJIA), particularly rheumatoid ...
Three-year real-world outcomes of lanadelumab prophylaxis in hereditary angioedema: Complete disease suppression and psychosocial benefits in two East Asian patients [0.03%]
兰尼单抗预防治疗遗传性血管水肿3年的实际效果：东亚2名患者病情完全缓解及心理获益
Saori Takamura,Tomoo Fukuda
Saori Takamura
Hereditary angioedema (HAE) is a rare, potentially life-threatening disorder characterized by recurrent, disabling episodes of subcutaneous or submucosal swelling. Lanadelumab, a monoclonal antibody targeting plasma kallikrein, is approved ...
Rare but not to be overlooked: Epidemiology and strategies for rare dermatological diseases in China [0.03%]
罕见但不容忽视：中国的罕见皮肤病流行现状及应对策略
Yue Han,Qianwei Zhuo,Nuo Chen et al.
Yue Han et al.
Rare skin diseases in China, recognized through the 2018 National Rare Disease List (121 conditions), pose substantial epidemiological and systemic challenges. The National Rare Diseases Registry System (NRDRS) documented 62,590 cases (2016...
Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome [0.03%]
一种新的AFF4变异(c.778A>G)与CHOPS综合征相关性鉴定
Xinyue Deng,Lingling Zhao,Ming Chen et al.
Xinyue Deng et al.
CHOPS (cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia) syndrome is an extremely rare disorder with multiple congenital anomalies caused by missense variants in the A...