Liqiong Liu,Jonathan Stone,Joan T Hoffpauir et al.
Liqiong Liu et al.
Meningioma with extensive histiocytic changes is rare. We describe a case of histiocytic meningioma which occurred in a 55-year-old woman. The patient had a progressive headache and a decline in fine motor coordination and memory for the pa...
Seizures caused by pyridoxine (vitamin B6) deficiency in adults: A case report and literature review [0.03%]
成人维生素B6缺乏引起的癫痫发作：一例报告及文献回顾
Yisha Tong
Yisha Tong
Pyridoxine (vitamin B6) deficiency is a recognised cause of intractable seizures in neonates. However, pyridoxine deficiency related seizures in adults were rarely reported. This article reports a case of a 79 year old lady who suffered fro...
Radiographic characteristics of the hand and cervical spine in fibrodysplasia ossificans progressiva [0.03%]
进行性肌肉骨化症的手和颈椎放射学特征
Kenichi Mishima,Hiroshi Kitoh,Nobuhiko Haga et al.
Kenichi Mishima et al.
Fibrodysplasia ossificans progressiva (FOP) is a disabling heritable disorder of connective tissue characterized by progressive heterotopic ossification in various extraskeletal sites. Early correct diagnosis of FOP is important to prevent ...
Bernard S Kaplan,Rebecca L Ruebner,Joann M Spinale et al.
Bernard S Kaplan et al.
Tremendous advances have been made in understanding the pathogenesis of atypical Hemolytic Uremic Syndrome (aHUS), an extremely rare disease. Insights into the molecular biology of aHUS resulted in rapid advances in treatment with eculizuma...
Enrico Tombetti,Maria Chiara Di Chio,Silvia Sartorelli et al.
Enrico Tombetti et al.
Takayasu arteritis (TA) is a rare and idiopathic large-vessel arteritis typically affecting young women which has important morbidity and mortality. There are no animal models of TA and pathogenesis is still mysterious. Clinical assessment ...
Pulmonary nocardiosis in patients with connective tissue disease: A report of two cases [0.03%]
结缔组织病患者肺诺卡菌病两例报告
Shinya Hagiwara,Hiroto Tsuboi,Chihiro Hagiya et al.
Shinya Hagiwara et al.
Reported here are 2 patients with connective tissue disease who developed pulmonary nocardiosis. Case 1 involved a 73-year-old man with malignant rheumatoid arthritis treated with prednisolone 25 mg/day. Chest X-rays revealed a pulmonary ca...
Auditory processing disorders associated with a case of Kartagner's syndrome [0.03%]
Kartagener综合征伴发听力障碍病例报告
Jain Saransh,Dwarkanath Mysore Vikas
Jain Saransh
Kartagner's syndrome is a rare autosomal recessive disorder characterized by sinusitis, bronchiectasis and situs inversus. Otitis media is seen in 95% of the individuals with this syndrome due to recurrent respiratory infections and dysfunc...
Effects of targeted modulation of miR-762 on expression of the IFITM5 gene in Saos-2 cells [0.03%]
靶向调控miR-762对Saos-2细胞IFITM5基因表达的影响
Xinkai Mo,Yanqin Lu,Jinxiang Han
Xinkai Mo
Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that plays an important role in the mineralization of the matrix in mature osteoblasts. However, understanding of the regulatory mechanism of IFI...
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors [0.03%]
与RNA外切体或其辅助因子异常相关的人类孟德尔疾病
Alexandre Fabre,Catherine Badens
Alexandre Fabre
The RNA exosome has a key role in RNA decays and RNA quality control. In 2012, two human Mendelian diseases: syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) and Ponto-cerebellar hypoplasia type 1(PCH1) were linked to the RNA exos...
Anthony K Hall,Marilyn R Carlson
Anthony K Hall
Orphan drug legislation has been introduced in a number of countries in order to stimulate the development of treatments for rare diseases by introducing commercial incentives for companies wishing to undertake that development. In order to...