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1.
Heterozygous nonsense mutations near the C‐terminal region of IGF1R in two patients with small‐for‐gestational‐age‐related short stature 下载免费PDF全文
2.
Takako Miyamae Masaaki Mori Yasuji Inamo Youichi Kohno Shuji Takei Motoharu Maeda Takuji Murata Shuji Nakata Hiroshi Kawai Yukiko Hirano Yukiji Date Katsuhiko Kitamura Shumpei Yokota 《Ryūmachi》2003,43(3):538-543
OBJECTIVES: To reveal the frequency and the clinical characteristics of dystrophic calcification that occurs in children with juvenile dermatomyositis, multi-center analysis was constructed. METHOD: Fifty children with JDM were enrolled, and 14 of them (28.0%) were complicated with calcinosis. Clinical symptoms and laboratory tests at onset, initial therapy and disease course were compared in children with and without calcinosis. RESULTS: The mean age of the onset of calcinosis was 4.78 +/- 3.33 years, and it was younger than those of children without calcinosis (8.66 +/- 3.85 years) (P = 0.0017). No differences of clinical manifestation except Gower's sign were observed. The frequency of positive anti-nuclear antibody was 7.1% in children with calcinosis and 52.9% without calcinosis (P = 0.0112). The initial therapy of methylprednisolon pulses gave no effects on prognosis of calcium deposition. The calcinosis appeared in 1.56 +/- 1.91 year after the onset of the disease. The various types of calcium deposition including large tumorous clumps, subcutaneous plaques or nodules, sheet-type calcification were deserved. They appeared over knee joints (64.3%), elbow joint (64.3%), and hip processes (50.0%). Calcinosis affecting the subcutaneous tissues frequently resulted in painful superficial ulceration of the overlying skin (42.9%), local infection (50.0%), and limitation of joint movement (14.3%). Although aluminum phosphate was effective in 2 children among 7, no other effective treatment was recommended. In 5 cases, surgical removal of tumorous clumps was operated. Thus, juvenile dermatomyositis is frequently complicated with calcinosis. This type of calcinosis was found to be unlikely to resolve completely, and resulted in severe disability in children. 相似文献
3.
Kanji Takeo Eric Virtudazo Misako Ohkusu Susumu Kawamoto Shoko Ito-Kuwa Sigeji Aoki 《Nippon Ishinkin Gakkai Zasshi》2006,47(4):257-262
In Cryptococcus neoformans the DNA content of cells having tiny buds varied rather widely, depending on growth phases and strains used. Typically, buds of C. neoformans emerged soon after initiation of DNA synthesis in the early exponential phase. However, bud emergence was delayed to G2 during transition to the stationary phase, and in the early stationary phase budding scarcely occurred, although roughly half of the cells completed DNA synthesis. The timing of budding in C. neoformans was shifted to later cell cycle points with progression of the growth phase of the culture. Similarly, a deficit in oxygen was demonstrated to delay the timing of budding, prolong the G2 phase and cause accumulation of cells after DNA synthesis, but before commitment to budding. The C. neoformans homologue of the main cell cycle control gene CDC28/Cdc2 was isolated using degenerate RT-PCR. The full-length coding region was then amplified using primers to target the regions around the start and stop codons. The gene was called CnCdk1 and was found to have high homologies to S. cerevisiae CDC28 and S. pombe cdc2. To determine its function, its ability to rescue S. cerevisiae cdc28-temperature sensitive mutants was tested. S. cerevisiae cdc28-4 and cdc28-1N strains transformed with the pYES2-CnCdk1 construct exhibited growth at the restrictive temperature. Results of the sequence analysis and the ability of CnCdk1 to complement the S. cerevisiae cdc28-ts mutations support its assumed role as the CDC28/cdc2 homologue in C. neoformans. 相似文献
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Christine D Pollard Susan M Sigward Susumu Ota Karen Langford Christopher M Powers 《Clinical journal of sport medicine》2006,16(3):223-227
OBJECTIVE: To examine the influence of in-season injury prevention training on hip and knee kinematics during a landing task. DESIGN: Longitudinal pre-post intervention study. SETTING: Testing sessions were conducted in a biomechanics research laboratory. PARTICIPANTS: Eighteen female soccer players between the ages of 14 and 17 participated in this study. All subjects were healthy with no current complaints of lower extremity injury. INTERVENTIONS: Testing sessions were conducted prior to and following a season of soccer practice combined with injury prevention training. MAIN OUTCOME MEASUREMENTS: During each testing session three-dimensional kinematics were collected while each subject performed a drop landing task. Peak hip and knee joint angles were measured during the early deceleration phase of landing and compared between pre- and post-training using paired t-tests. RESULTS: Following a season of soccer practice combined with injury prevention training, females demonstrated significantly less hip internal rotation (7.1 degrees vs. 1.9 degrees; P = 0.01) and significantly greater hip abduction (-4.9 degrees vs. -7.7 degrees; P = 0.02). No differences in knee valgus or knee flexion angles were found post-season. CONCLUSIONS: Female soccer players exhibited significant changes in hip kinematics during a landing task following in-season injury prevention training. Our results support the premise that a season of soccer practice combined with injury prevention training is effective in altering lower extremity motions that may play a role in predisposing females to ACL injury. 相似文献
7.
Yoshitaka Imoto Naoki Muguruma Tetsuo Kimura Masako Kaji Hiroshi Miyamoto Seisuke Okamura Susumu Ito Masahiko Nakasono Mitsuyoshi Hirokawa Toshiaki Sano 《Nihon Shokakibyo Gakkai zasshi》2007,104(3):401-406
Humoral hypercalcemia of malignancy (HHM) in neoplastic syndrome has been most commonly reported in squamous cell carcinoma. Gallbladder carcinoma with HHM is uncommon. In this report, we describe a male case of gallbladder carcinoma with marked hypercalcemia and a high level of serum parathyroid hormone-related peptide (PTHrP). An immunohistochemical examination using PTHrP was also positive. 相似文献
8.
OBJECTIVE: The aim of this study was to evaluate the relationship between the degree of conversion (DC) of composites and the light intensity using LED-curing units and also to determine the amount of exposure required to achieve optimal curing. METHOD: The light outputs of light-curing units and the depths of cure of composites exposed to these units were determined using the methods outlined in modified ISO standards, ISO/TS10650 and ISO 4049, respectively. The distributions of DC in composites were investigated by IR spectra of microareas obtained at various depths from the irradiated surface of thin specimens cut out from the cured composites. IR spectra were measured using a Fourier transform infrared spectrometer equipped with a microscopic unit. DC was calculated from the changes in the amount of C=C double bonds in the IR spectra. RESULTS: The light intensity at various depths through the cured composite was calculated from the attenuation coefficient of each material, obtained from the linear relationship between the depth of cure and the logarithm of the amount of exposure, which is defined as the product of the irradiance and irradiation time. There was a third or fourth order regression relationship between DC and the logarithm of total light energy at a particular depth. SIGNIFICANCE: The minimum light energy required to produce a saturated DC was about 1000 s mW/cm2. 相似文献
9.
Hideaki Iwaki Kazuyoshi Johnin Susumu Kageyama Chul Jang Kim Takahiro Isono Tatsuhiro Yoshiki 《International journal of urology》2007,14(10):918-923
OBJECTIVES: Vesicoureteral reflux (VUR) is the most common congenital urinary tract anomaly. This disease can pose a major threat to the kidneys as twenty percent of patients with endstage renal disease are reported to have VUR. Although genetic studies for uroplakin III (UPIII) have been reported recently, no study has focused on UPIII gene expression in VUR patients. We describe here the up-regulation of UPIII mRNA in exfoliated urinary cells from primary VUR patients. METHODS: A real-time RT-PCR for UPIII mRNA was performed on exfoliated urothelial cells from 18 primary VUR and 38 control samples. UPIII mRNA copies were calculated for each sample. The statistical differences were assessed by the Mann-Whitney U test. Receiver operator characteristic curves were constructed for analysis of the diagnostic values. RESULTS: UPIII mRNA was found to be up-regulated to a greater extent in VUR than in control exfoliated urinary cells (mean +/- SE: 497.0 +/- 178.5 copies vs. 69.0 +/- 10.0 copies, respectively, P < 0.001). In evaluating the measurement of urinary UPIII mRNA as a screening test for VUR, the sensitivity was 77.8% and the specificity was 76.3% by the best diagnostic cutoff point. CONCLUSIONS: This is the first report demonstrating up-regulation of UPIII in mRNA levels in VUR patients. We submit that the quantitative measurement of urinary UPIII mRNA has a potential of developing into the first non-invasive screening test for VUR. 相似文献
10.
Toshiya Takemura Masazumi Watanabe Keigo Takagi Susumu Tanaka Shinsuke Aida 《Surgery today》1995,25(7):651-653
We present herein the rare case of a young man who was found to have a solitary tumor in the right upper lobe of his lung by a routine chest X-ray. The tumor was removed by thoracoscopic surgery, and pathological examinations confirmed the diagnosis of a primary lymphangioma of the lung. A brief review of the available literature on this extremely rare type of benign tumor follows the case report. 相似文献