Insights from a patient with chronic lymphocytic leukemia complicating ALK+ anaplastic large cell lymphoma [0.03%]
伴发ALK+大细胞淋巴瘤的慢性淋巴细胞性白血病患者病例分析
Wuqiang Lin,Xiuli Chen,Zhenjie Cai et al.
Wuqiang Lin et al.
Chronic lymphocytic leukemia (CLL) that transforms into a more aggressive lymphoma has been termed Richter syndrome (RS). CLL with T-cell neoplasia is rarely reported; those with ALK+ anaplastic large cell lymphoma (ALCL) are also exceeding...
The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services [0.03%]
有限遗传服务的印尼脆性X综合征患者的异常行为特点
Tri Indah Winarni,Tanjung Ayu Sumekar,Widodo Sarjana et al.
Tri Indah Winarni et al.
Fragile X syndrome (FXS) is caused by the full mutation in the fragile x messenger ribonucleoprotein 1 (FMR1) gene leading to the absence of the fragile X protein (FXP). Previous studies show that individuals with FXS exhibit changing behav...
Updated information regarding management of hepatic epithelioid hemangioendothelioma [0.03%]
肝上皮样血管内皮细胞瘤管理的最新信息
Kaijian Chu,Zhizheng Li,Wei Tang et al.
Kaijian Chu et al.
Hepatic epithelioid hemangioendothelioma (HEHE) is a rare hepatic vascular tumor with a borderline biological behavior between hemangioma and hemangiosarcoma. It tends to be multiple or diffuse subcapsular lesions across the liver but has n...
Do patients with Hirayama disease require surgical treatment? A review of the literature [0.03%]
Hirayama病患者需要手术治疗吗？文献回顾
Yuan Gao,Chi Sun,Xiaosheng Ma et al.
Yuan Gao et al.
The main clinic characteristic of Hirayama disease (HD) is atrophy of the distal muscles in the upper limbs. Recently, an increasing number of HD cases have been reported. Many HD patients have persistently progressive symptoms and conserva...
Monoclonal gammopathy of undetermined significance (MGUS) characterized by refractory lower gastrointestinal postoperative bleeding with coagulopathy [0.03%]
具有难治性下消化道术后出血和凝血病的意义未明的单克隆免疫球蛋白血症(MGUS)
Shuxia Zhang,Zhifen Chen,Meijuan Huang et al.
Shuxia Zhang et al.
Bleeding is a common complication after lower gastrointestinal surgery, and cases due to coagulation dysfunction are rare. The current authors encountered a 54-year-old Chinese man with refractory bleeding after endoscopic rectal polypectom...
KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure [0.03%]
KCNB1帧移突变导致遗传性智力障碍、发育迟缓和癫痫发作
Eyyup Uctepe,Fatma Nisa Esen,Sait Tümer et al.
Eyyup Uctepe et al.
Potassium voltage-gated channel subfamily B member 1 (KCNB1) encodes Kv2.1 potassium channel. KCNB1 mutations are known to cause global developmental delay, behavioral disorders, and various epilepsies. Most variants occur de novo and are r...
Insights into clinical diagnosis and treatment of malignant hepatic perivascular epithelioid cell tumor [0.03%]
恶性肝脏周边上皮样细胞肿瘤的临床诊断与治疗见解
Zhongyu Li,Yongzhi Zhou,Chaoqun Wang et al.
Zhongyu Li et al.
Perivascular epithelioid cell tumors (PEComas) are infrequent mesenchymal tumors. They are usually benign, and only a few are malignant. These tumors are more commonly found in middle-aged women. PEComas are mainly composed of differentiate...
Knowledge level of medical students and physicians about rare diseases in Lima, Peru [0.03%]
秘鲁利马医学生和医生对罕见病的认识水平
Andrea Flores,Sarah Burgos,Hugo Abarca-Barriga
Andrea Flores
Rare diseases (RDs) affect up to 8% of the world's population, and unfortunately, health professionals have a low level of knowledge regarding the impacts of RDs on the social, psychological, and economic spheres of the patients and their f...
Assessment of health-related quality of life in patients with spina muscular atrophy in China [0.03%]
中国脊肌萎缩症患者相关生活质量评估研究
Chengaxin Duan,Dandan Ai,Qian Xu et al.
Chengaxin Duan et al.
Spinal muscular atrophy (SMA) is a rare disease that has attracted considerable interest in China due to its severity and hefty treatment costs. Few studies have been conducted on Chinese patients. The objective of this study was to assess ...
Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 and LMOD1) [0.03%]
平滑肌运动障碍表型：与七种致病基因（ACTG2、MYH11、FLNA、MYLK、RAD21、MYL9和LMOD1）相关的病例的系统性综述
Ninon Fournier,Alexandre Fabre
Ninon Fournier
Smooth muscle disorders affecting both the intestine and the bladder have been known for a decade. However, the recent discovery of genes associated with these dysfunctions has led to the description of several clinical phenotypes. We perfo...