We had experienced 117 Japanese Fabry patients (72 males and 45 females) from 1977 to 2006, and then we generated an improved Fabry analysis system in 2007 and have found 196 ones (95 males and 101 females) since then. In this study, we summarized the data of the patients and tried to elucidate the molecular and biochemical characteristics of Japanese Fabry patients. Gene analysis revealed various GLA mutations, including missense mutations (56.5%, 48 types); nonsense mutations (15.9%, 13 types); deletions (12.6%, 13 types); splicing defects (10.1%, 6 types); insertions (1.0%, 2 types), and insertions/deletions (0.5%, 1 type), in the patients that were tested. Amino acid substitutions resulting from the missense mutations found in the classic form patients tended to be localized in the core of the GLA protein, and those in the later-onset ones in the peripheral region. The most commonly identified pathogenic mutations are c.888G > A (p.M296I), c.936 + 919G > A, c.679C > T (p.R227X), c.335G > A (p.R112H), c.334C > T (p.R112C), and c.902G > A (p.R301Q). Among them, c.888G > A (p.M296I) is unique to Japanese Fabry patients. On the other hand, c.936 + 919G > A is a variant that has been frequently detected in Taiwan Chinese Fabry patients, and c.335G > A (p.R112H) in various countries. These are found in later-onset patients, and c.679C > T (p.R227X) and c.334C > T (p.R112C) classic ones. c.902G > A (p.R301Q) is found in both classic and later-onset form patients. A possible functional polymorphism, c.196G > C (p.E66Q), was identified in 0.4% of the subjects who underwent high-risk screening. The biochemical findings including leukocyte α-galactosidase A activity, plasma globotriaosylsphingosine level and urinary globotriaosylceramide in the individual phenotypic groups well reflected the phenotypic differences in this disease. The results will be useful for understanding the basis of Fabry disease in Japan.
A nocturnal home blood pressure (BP) monitoring device that measures nighttime BP levels accurately with less sleep disturbance is needed for the 24‐h management of hypertension. Here we conducted the first comparison study of simultaneous self‐monitoring by both a supine position algorithm‐equipped wrist nocturnal home BP monitoring device, the HEM‐9601T (NightView; Omron Healthcare) with a similar upper arm device, the HEM‐9700T (Omron Healthcare) in 50 hypertensive patients (mean age 68.9 ± 11.3 years). Both devices were worn on the same non‐dominant arm during sleep over two nights. The patients self‐measured their nighttime BP by starting nocturnal measurement mode just before going to bed. In total, 694 paired measurements were obtained during two nights (7.2 ± 1.5 measurements per night), and the mean differences (±SD) in systolic BP between the devices was 0.2 ± 10.2 mmHg (p = .563), with good agreement. In the comparison of nighttime BP indices, the difference in average SBP at 2:00, 3:00, and 4:00 AM and the average SBP of 1‐h interval measurements was −0.5 ± 5.5 mmHg (p = .337), with good agreement. The HEM‐9601T substantially reduced sleep disturbance compared to the upper arm‐type device. The newly developed HEM‐9601T (NightView) can thus accurately measure BP during sleep without reducing the wearer's sleep quality.
Nonalcoholic fatty liver was clearly related to the 2-h- or 1-h-post-challenge glucose level, but not to FPG, in 75-g OGTT, and this IGT was corrected by body weight reduction in accordance with diminished nonalcoholic fatty liver. Thus, 75-g OGTT should be applied to subjects with nonalcoholic fatty liver to evaluate IGT.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.