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Hosoki K.,Hokkaido University | Ohta T.,Health Sciences University of Hokkaido | Natsume J.,Nagoya University | Imai S.,Sagamino Social Insurance Hospital | And 9 more authors.
American Journal of Medical Genetics, Part A | Year: 2012

Array-based technologies have led to the identification of many novel microdeletion and microduplication syndromes demonstrating multiple congenital anomalies and intellectual disability (MCA/ID). We have used chromosomal microarray analysis for the evaluation of patients with MCA/ID and/or neonatal hypotonia. Three overlapping de novo microdeletions at 5q31.3 with the shortest region of overlap (SRO) of 370kb were detected in three unrelated patients. These patients showed similar clinical features including severe neonatal hypotonia, neonatal feeding difficulties, respiratory distress, characteristic facial features, and severe developmental delay. These features are consistent with the 5q31.3 microdeletion syndrome originally proposed by Shimojima et al., providing further evidence that this syndrome is clinically discernible. The 370kb SRO encompasses only four RefSeq genes including neuregulin 2 (NRG2) and purine-rich element binding protein A (PURA). NRG2 is one of the members of the neuregulin family related to neuronal and glial cell growth and differentiation, thus making NRG2 a good candidate for the observed phenotype. Moreover, PURA is also a good candidate because Pura-deficient mice demonstrate postnatal neurological manifestations. © 2012 Wiley Periodicals, Inc. Source

Katayama C.,Kitasato University | Maejima H.,Kitasato University | Watarai A.,Kitasato University | Nishiyama H.,Sagamino Social Insurance Hospital | Katsuoka K.,Kitasato University
Journal of Drugs in Dermatology | Year: 2012

We herein report a case of psoriasis verrucosa that was successfully treated with adalimumab. A 55-year-old Japanese male had a five-year history of psoriasis vulgaris treated with topical agents. His past history included atypical psychosis treated with lithium carbonate and obesity. Despite treatment, verrucous scales developed on erythematous plaque. After treatment with adalimumab, these improved remarkably, and the patient's Psoriasis Area and Severity Index score decreased from 16.2 to 3.7. Copyright © 2012 Journal of Drugs in Dermatology. Source

Yamauchi T.,Sagamino Social Insurance Hospital | Tamaki N.,Hokkaido University | Kasanuki H.,Waseda University | Kimura T.,Kyoto University | And 2 more authors.
Circulation Journal | Year: 2012

Background: For stable patients suspected of having coronary artery disease (CAD), myocardial perfusion imaging (MPI) or computed tomographic angiography (CT) is used for initial evaluation, while coronary angiography (CAG) is used for confirming the diagnosis. The choice of the initial diagnostic test might influence the treatment strategy. Methods and Results: Patients scheduled for MPI, CT, or CAG as the initial diagnostic test were enrolled. The primary and secondary end-points were a major adverse cardiac event (MACE) and revascularization, respectively. Of the 2,878 patients enrolled, 2,825 underwent initial diagnostic tests, and 2,780 were followed up for 1.42±0.49 years. After adjustment for CAD severity, Cox proportional hazard regression analysis showed that the risk of MACE in the MPI and CT groups were similar and significantly less than that in the CAG group (hazard ratio, 0.82 vs. 2.19; 95% confidence interval [CI], 0.43-1.58 vs. 1.40-3.44). Furthermore, the rate of revascularization in the MPI group was less than that of the CT (odds ratio, 1.62; 95% CI, 1.20-2.18) and CAG (odds ratio, 5.36; 95% CI, 4.07-7.05) groups. Conclusions: These data indicate that for stable patients with suspected CAD, the use of MPI or CT as the initial diagnostic test was associated with better prognosis than the use of CAG, and that initial evaluation with MPI was associated with a lower requirement of coronary intervention. Source

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