[PDF] Top 20 Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

... 300 patients have been reported worldwide [32] , and 19 patients have been reported in the Chinese Han population ...the genetic and clinical characteristics to help early ... See full document

... two patients in familial cases and performed segregation analysis to confirm the disease-causing ...all patients underwent cataract surgery prior to enrolment in this study, so phenotypic information was ... See full document

... five patients with BHD in 2007; all of the mutations were unique, and four were novel ...recent genetic study of Japanese patients with BHD syndrome pub- lished in 2016 included 312 patients ... See full document

... provided patients with specific mutations great progress on their disease ...of Chinese-specific CFTR ...in Chinese, ...Meanwhile, Chinese CF patients will benefit from the re- cently ... See full document

... Two of these patients were misdiagnosed until the ages of 27 and 16 despite characteristic manifestations of CTX. By the time their diagnoses were confirmed bio- chemically and genetically, they were severely ... See full document

... CTX patients (mean age at examination = ...data, clinical features, brain MRI findings, and data of neuropsychological tests are listed in Table ...1. Genetic mutations in Family I (Cases 1 and 2) ... See full document

... these patients, we found a strong correlation between the whole-brain MT ratio histogram composite and the EDSS ...between clinical and MT MR his- togram findings in CTX indicates that the quantita- tive ... See full document

... four Chinese WFS patients and descried their ophthalmologic characteristics, as well as reported three novel WFS1 and CISD2 ...Most patients presented at least three clinical manifesta- ... See full document

... on clinical find- ings, biochemical testing, neuroimaging, and molecular genetic ...for patients with xanthomas and neurological symptoms starting in ...of patients with CTX in the laboratory ... See full document

... face patients with CCh in their routine daily ...symptomatic patients the clinical presentation can include irritation, tearing, blurry vision, and subconjunctival hem- orrhage and ...These ... See full document

... alpha,25-pentol observed in CTX patients may be secondary to the accumulation of the major substrate for the 26-hydroxylase, i. e., 5 beta-cholestane-3 alpha,7 alpha,12 alpha- triol, and exposure of this substrate ... See full document

... DNA analysis of the patient ’ s daughter revealed that she is heterozygous for the 4 nucleotide deletion. Although she is expected to have a 50% reduction of sterol 27-hydroxylase activity in liver and other tissues, she ... See full document

... to patients with this disease, and it is now known that younger people resort more often to the media, particularly the Internet, for any type of informa- tion, including medical ... See full document

... five patients in SS group, 1 patient treated with Traditional Chinese Medicine, 4 with no ...5 patients were treated with oral or topical corticosteroids, 2 with hydroxychloroquine, 1 with ... See full document

... The conclusion must also be drawn that the cohort analyzed showed a very active, as well as incapacitating, disease, given that nearly 50% of the patients presented DAS-28 levels, which indicated activity between ... See full document

... Intrahepatic cholestasis of pregnancy (ICP) is a severe pregnancy-specific disease that can be characterized by serum MPBA. The serum levels of TCA, GCA, tauro- chenodeoxycholic acid (TCDCA), GCDCA, taurourso- ... See full document

... between patients with 45,X and those with 45,X/46,XX in terms of the majority of phenotypical ...in patients with 45,X as compared to − ...33 patients), but absent in patients with mosaicism ... See full document

... eight patients by Federico et al. and 20 of 30 patients by Mignarri et ...their patients which might relate to a defective side-chain hydroxylation of Vitamin D ... See full document

... phospholipids essentially normal, and triglycerides increased. The ratio of apoprotein (apo) to total cholesterol in the HDL of CTX was two to three times greater than normal. In the CTX HDL, the ratio of apoAI to apoAII ... See full document

... This paper describes a pathway of cholic acid synthesis, in man and in the rat, which involves 25-hydroxylated intermediates and is catalyzed by microsomal and soluble enzymes. The subcellular localization, ... See full document