Asperger's syndrome with unusual cerebral pathology: Case report and literature review [0.03%]
阿斯佩格综合征伴罕见脑病理改变：病例报告和文献复习
Liqiong Liu,Van Vo,Marcus Ware et al.
Liqiong Liu et al.
A case of Asperger's syndrome with unusual cerebral pathological changes is reported. A 22-year-old male had been having diagnostic Asperger's syndrome since the age of eight and had epilepsy during the past two years. Radiological studies ...
Accessory lobes of the liver: A report of 3 cases and review of the literature [0.03%]
肝叶变异的三种类型及文献复习
Chenglin Wang,Lin Cheng,Ziqin Zhang et al.
Chenglin Wang et al.
This article is about 3 cases of accessory lobes of the liver. Case One involved a pedunculated accessory lobe of the liver (ALL), Case Two involved a true ectopic liver, and Case Three involved a sessile accessory lobe of the liver. All 3 ...
Ziqiang Wang,Yanqin Lu,Xiumei Zhang et al.
Ziqiang Wang et al.
The purpose of our study was to screen preliminary differential expression bone-related microRNAs (miRNAs) in serum of patients with osteogenesis imperfacta and to clarify whether serum microRNA is a promising biomarker for osteogenesis imp...
Nobuhisa Akamatsu,Yasuhiko Sugawara
Nobuhisa Akamatsu
Primary biliary cirrhosis (PBC) is an immune-mediated chronic progressive inflammatory liver disease, predominantly affecting middle-aged women, characterized by the presence of antimitochondrial antibodies (AMAs), which can lead to liver f...
The characterization and role of leukemia cell-derived dendritic cells in immunotherapy for leukemic diseases [0.03%]
白血病细胞来源的树突状细胞在免疫治疗中的特征和作用
Changjin Yuan,Guanhua Song,Guosheng Jiang
Changjin Yuan
Usually, an effective anti-leukemia immune response cannot be initiated effectively in patients with leukemia. This is probably related to immunosuppression due to chemotherapy, down-regulation of major histocompatibility complex (MHC) II m...
Current progress in the management of rare diseases and orphan drugs in China [0.03%]
中国罕见病和孤儿药管理的现状及进展
Shiwei Gong,Si Jin
Shiwei Gong
Currently, the issues of how to treat rare diseases and to improve accessibility to orphan drugs are arousing more and more concerns in China. Here we describe the push and pull incentive policies for rare diseases and orphan drugs and anal...
Chenglin Wang,Lin Cheng,Ziqin Zhang et al.
Chenglin Wang et al.
This article is about a case of hepatic ectopic pregnancy. A patient suffered from an acute abdomen with 14-day vaginal bleeding. A serum, human chorionic gonadotrophin (HCG) of 8,988 mIU/mL revealed a bit of pelvic effusion. A computed tom...
Chronic intestinal pseudo-obstruction due to lymphocytic intestinal leiomyositis: Case report and literature review [0.03%]
淋巴细胞肠肌炎性假性肠梗阻一例及文献复习
Keiichi Uchida,Kohei Otake,Mikihiro Inoue et al.
Keiichi Uchida et al.
Lymphocytic intestinal leiomyositis is a rare entity, which causes chronic intestinal pseudo-obstruction (CIPO) in children. We present the first case of a boy who had pure red cell anemia 1 year before onset. Prolonged ileus developed afte...
Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis [0.03%]
中国遗传性青少年黄斑部囊样变性的基因研究
Qiaofang Hou,Yan Chu,Qiannan Guo et al.
Qiaofang Hou et al.
The purpose of our study was to identify the mutations in the retinoschisis 1 (RS1) gene, which was associated with X-linked retinoschisis (XLRS) in a four-generation Chinese family, and to provide the theoretical basis for gene diagnosis a...
Identification of a germline mutation in the HRPT2 gene in a Chinese family with parathyroid carcinomas [0.03%]
HRPT2基因的生殖细胞突变与甲状旁腺癌家系的关系研究
Mei Zhang,Qin Li,Lili Zhang et al.
Mei Zhang et al.
This study reported a family with primary hyperparathyroidism due to parathyroid carcinoma and investigated the pathological and genetic features of family members. Three members of the family had clinical manifestation of primary hyperpara...