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981.
Shiroh Miura Kengo Kosaka Ryuta Fujioka Yusuke Uchiyama Tomofumi Shimojo Takuya Morikawa Azusa Irie Takayuki Taniwaki Hiroki Shibata 《European journal of medical genetics》2019,62(3):172-176
Spinocerebellar ataxia 27 (SCA27) is an autosomal dominant SCA caused by variants in the fibroblast growth factor 14 (FGF14) gene. We examined a Japanese SCA patient whose deceased father also suffered from SCA. The patient was a 63-year-old male. He graduated from junior high school but received no further education. The predominant complaint was slowly progressive dysarthria and gait disturbance, which appeared at age 47. He showed pathological saccadic dysmetria, saccadic intrusions into smooth pursuit eye movements, dysarthria, and limb and truncal ataxia. His gait was wide-based but he did not require a walking stick. Limb muscle strength was intact. Deep tendon reflexes were normal or slightly reduced. Pathological reflexes were absent. He demonstrated mildly impaired vibration sense in the lower limbs. There was no urinary dysfunction. Brain MRI showed cerebellar atrophy without brainstem involvement. We first confirmed the absence of repeat expansion in genes known to be responsible for SCAs 1–3, 6–8, 10, 12, 17, 36 and dentatorubral-pallidoluysian atrophy. By exome analysis, we identified a novel heterozygous variant (NM_004115, c.529A>T; Lys177X) in exon 4 of the FGF14 gene. This variant is expected to generate a truncated FGF14 protein lacking the heparin binding sites, those are likely to modify the activity of FGF14. We confirmed the absence of the variant in 502 healthy Japanese individuals by Sanger sequencing. There is no record of the variant in public databases. We conclude that the novel variation in FGF14 is causative for SCA27 in this patient. 相似文献
982.
983.
Yusuke Kigami Itsuo Yamamoto Hideo Ohnishi Masahiko Takada Ryouji Matsushita Yasuyo Hamanaka Toyotsugu Ota Rikushi Morita 《Annals of nuclear medicine》1998,12(1):15-20
The relationship between bone mineral density in elderly women and the pattern of skeletal uptake of99mTc-HMDP, especially in regard to skull uptake, was investigated. The whole-body skeletal uptake (WBSU) and whole-body skeletal tracer distribution patterns were studied in 86 disease-free women on bone scintigraphy with99mTc-hydroxy-methylene-diphosphonate (HMDP). Bone scans were quantified by setting regions of interest (ROI) and bone mineral density (BMD) was assessed by dual-energy X-ray absorptiometry in all patients. WBSU and the skeletal distribution pattern were compared with bone mineral densities of the entire skeleton as well as selected regions. WBSU was high in the elderly and negatively correlated with regional bone mineral densities (r = ?0.403 to ?0.534). Among the regions, uptake by the skull increased with age more than in other regions in women and had the highest negative correlation with the bone mineral density. The skull uptake correlated negatively with total body BMD (r = ?0.583) and with lumbar BMD (r = ?0.561, p< 0.0001). Our results show that increased radionuclide uptake in bone scintigraphy, especially skull uptake was associated with decreased bone mineral density in elderly women, so that, increased skull uptake in elderly women would be a scintigraphic sign of post-menopausal or senile osteopenia. 相似文献
984.
Yusuke Arakawa Kentaro Ushijima Hiroyoshi Tsuchiya Jun‐ichi Morishige Akiko Mii Hitoshi Ando Shu‐ichi Tsuruoka Akio Fujimura 《Clinical and experimental pharmacology & physiology》2019,46(12):1166-1173
The neutrophil gelatinase‐associated lipocalin (NGAL) receptor (24p3R) is expressed in distal nephron and contributes to the endocytosis of NGAL in urine. This study was undertaken to evaluate an influence of renal ischaemia‐reperfusion injury on 24p3R. Unilateral renal pedicle was clamped for 0, 10, 20, 30, or 45 minutes in male Wistar rats. Urine was collected for 24 hours after reperfusion, and ischaemic kidney and blood sample were obtained. Apparent histological injury in the ischaemic kidney was detected in the 30 and 45 minutes‐treated groups. Urinary NGAL excretion elevated in rats with renal ischaemia for more than 20 minutes, while serum creatinine increased in rats for more than 30 minutes of ischaemia. Renal protein expression of NGAL did not significantly change. Renal mRNA expressions of megalin and cubilin, which are expressed at renal proximal tubules and uptake NGAL, decreased in animals with renal ischaemia for more than 20 minutes. Renal protein expression of 24p3R, which is expressed at renal distal tubules and uptake NGAL, decreased in rats with renal ischaemia for 45 min. This study showed for the first time that renal 24p3R decreased in response to renal ischaemia. As relatively longer renal ischaemia (45 minutes) decreased renal 24p3R protein and increased urinary NGAL excretion, the down‐regulation of 24p3R protein might contribute to the elevated urinary excretion of NGAL in rats with unilateral ischaemia‐reperfusion injury. 相似文献
985.
Arase Y Suzuki F Kawamura Y Suzuki Y Kobayashi M Matsumoto N Akuta N Sezaki H Hosaka T Ogawa K Imai N Seko Y Saito S Ikeda K Kobayashi M Kumada H 《Hepatology research》2011,41(10):946-954
Aim: The aim of this retrospective cohort study is to assess the development incidence and predictive factors for chronic kidney disease (CKD) after the termination of interferon therapy in hepatitis C virus (HCV) positive Japanese patients with liver cirrhosis. Methods: A total of 650 HCV positive, liver cirrhotic patients who were treated with interferon and showed an estimated glomerular filtration rate (eGFR) of ≥60 mL/min per 1.73 m2 after the termination of interferon therapy were enrolled. CKD was defined as an eGFR of <60 mL/min per 1.73 m2. End‐stage‐CKD was defined as an eGFR of <15 mL/min/1.73 m2. The primary goal is the new development of CKD and end‐stage‐CKD. Results: Eighty‐five patients developed CKD, and six patients progressed to end‐stage‐CKD. The development rate of CKD was 5.2% at the 5th year, 14.5% at the 10th year and 30.6% at the 15th year. Multivariate Cox proportional hazards analysis showed that CKD occurred when patients had age increments of 10 years (hazard ratio: 2.32; 95% confidence interval [CI] 1.61–3.35; P < 0.001), eGFR decrements of 10 mL/min per 1.73 m2 (hazard ratio: 1.66; 95% CI 1.27–2.16; P < 0.001), hypertension (hazard ratio: 2.00; 95% CI 1.13–3.53; P = 0.017), diabetes (hazard ratio: 1.79; 95% CI 1.02–3.14; P = 0.042), and non‐clearance of HCV (hazard ratio: 2.67; 95% CI 1.34–5.32; P = 0.005). The development rate of end‐stage‐CKD was 0.4% at the 5th year, 1.6% at the 10th year and 2.8% at the 15th year. Conclusions: The annual incidence for CKD among cirrhotic patients with HCV was determined to be about 1.0–1.5%. In addition, the annual incidence for end‐stage‐CKD is one order of magnitude lower than that of CKD. 相似文献
986.
Yasuhiko Sugawara Yusuke Tada Osamu Sato Tetsuro Miyata Hideo Kimura Toshiyuki Namba Masatoshi Makuuchi 《Surgery today》1998,28(8):843-845
(Received for publication on Nov. 27, 1996; accepted on July 8, 1997) 相似文献
987.
Yusuke Tsuru 《General thoracic and cardiovascular surgery》1998,46(10):992-999
To assess the safety of retrograde cerebral perfusion, the occurrence of brain edema after this procedure was investigated. Twenty-eight adult mongrel dogs were divided into three groups that underwent the following treatments: antegrade perfusion (group 1, n=9); retrograde perfusion alone (group 2, n=11); or tetrograde perfusion with drugs (manuitol, thiopental sodium, and methylprednisolone; group 3, n=8). After 90 minutes of cerebral perfusion at 20°C of the pharyngeal temperature, evans blue (EB) was administered to check for disruptions of the blood-brain-barrier (BBB) and brain tissue water content was measured. Intracranial pressure after cerebral perfusion was markedly higher in group 2 than in group 1 (26.4 ± 9.4 vs. 11.2 ± 3.6 mmHg), and brain tissue water content was also significantly higher in group 2 than in group 1 (80.7 ± 2.0 vs. 77.8 ± 0.9%). these data suggested that brain edema was more prominent after retrograde perfusion than after antegrade perfusion. The extent of EB to brain tissue was greater in group 2 than in group 1 (169.8 ± 97.7 vs. 54.7 ± 31.5 μg/dl). The BBB was highly disrupted in group 2 and vasogenic edema appeared after retrograde cerebral perfusion. Maximum intracranial pressure, brain tissue water content and EB concentration were significantly lower in group 3 than in group 2, and did not differ significantly between group 3 and 1. Administration of pharmacologic agents suppressed edema formation and extravasation of EB. We conclude that 90 minutes of retrograde cerebral perfusion at 20°C of the pharyngeal temperature causes brain edema and disrupts the BBB in a manner different from that associated with antegrade perfusion. Mannitol, thiopental sodium, and methylprednisolone prevent these phenomena, indicating that pharmacologic intervention may improve the safety of retrograde cerebral perfusion. 相似文献
988.
Yuji Okatani Kazutoshi Hayashi Kazushi Watanabe Nobuyuki Morioka Yusuke Sagara 《Journal of pineal research》1998,24(4):224-229
Abstract: Our objective was to evaluate the effects of estrogen deficit and of estrogen stimulation on the synthesis of pineal melatonin in female rats during the peripubertal period. The levels of melatonin and N-acetylserotonin (NAS) and the activities of N-acetyltransferase (NAT) and hydroxyindole-O-methyltransferase (HIOMT) were determined in homogenates of pineal glands obtained from peripubertal female Sprague- Dawley rats 4 to 12 weeks of age in the mid-dark during the daily light/dark cycle. Animals were ovariectomized at 4 weeks of age; daily administration of estradiol benzoate (E2 B, 1.0 μg/d, s.c.) was initiated at 4 weeks of age. A peak in the pineal levels of melatonin and NAS and in NAT activity was observed in untreated (control) rats with intact ovaries at 6 weeks. HIOMT activity increased from Week 4 to 6 and remained unchanged thereafter. Ovariectomy at Week 4 led to significant increases in the levels of melatonin and of NAS and NAT in activity at Week 8. NAT activity Week 10 resembled that of control animals, but levels of melatonin and NAS were slightly elevated. Ovariectomy did not affect HIOMT activity. Subcutaneous injection of E2 B significantly decreased the levels of melatonin and NAS and of NAT activity at Week 4, as compared with those in control rats. E2 B suppressed the ovariectomy-induced elevation of levels of melatonin and NAS and of NAT activity, similar to the effect in control animals. E2 B did not affect HIOMT activity. Our results suggest that estrogen modulates the nocturnal synthesis of melatonin in the pineal gland in peripubertal female rats. The effects of estrogen on melatonin synthesis appeared to be mediated by the modulation of NAT activity. 相似文献
989.
Hiroshi Kameda 《Medical Electron Microscopy》1993,26(1):65-75
The ultrastructure of rat muscle spindles was examined after the anterior tibial muscles had been immobilized in a plaster
cast. There was an increase in the number of collagen fibrils and external laminae around the outer capsules and in the intracapsular
space 2 weeks after immobilization. The changes in the intrafusal muscle fibers within 4 weeks included disorientation of
myofilaments. After 6 weeks, Z bands had become disarranged, and there was vacuolar degeneration of the sarcoplasmic reticulum
in some fibers. Myelin sheaths of many of the myelinated nerve fibers (especially the thick ones, which were probably sensory
nerve fibers) had degenerated within 2 weeks. These results indicate that immobilization of skeletal muscles affects not only
extrafusal muscle fibers but also the structure of the muscle spindle. 相似文献
990.
Nishiguchi Kohshi Ishida Kazue Nakajima Masanori Maeda Tetsuo Komada Fusao Iwakawa Seigo Tanigawara Yusuke Okumura Katsuhiko 《Pharmaceutical research》1996,13(4):577-582
Purpose. The effects of transfection with the human Cu, Zn-superoxide dismutase (hSOD)4 gene on active oxygen-induced cytotoxicity in rat skin fibroblasts (FR) were studied for the purpose of developing the novel delivery system of hSOD using hSOD gene.
Methods. An expression plasmid for hSOD, pRc/RSV-SOD, was constructed and used to transfect FR cells. Xanthine (X)/xanthine oxidase (XO) system were used to generate active oxygen species. The effects of transfection with the hSOD gene on active oxygen-induced cytotoxicity were assessed by comparing the number of surviving cells and the level of lipid peroxidation in host and transformants after exposure to X/XO system.
Results. The cellular SOD activity in RSV-SOD cells transfected with pRc/RSV-SOD was significantly increased in comparison with host or RSV cells transfected with the pRc/RSV plasmid containing no hSOD gene as a control. Furthermore, Western blot analysis using an anti-hSOD antibody indicated the production of hSOD in RSV-SOD cells. On the other hand, although the numbers of surviving cells in both host and RSV-SOD cultures after exposure to X/XO system decreased in a time-dependent manner, the decrease in number of surviving RSV-SOD cells was less than that in host cells. In the presence of catalase, the decreases in number of surviving cells in both host and RSV-SOD cultures after exposure to the X/XO system were also less than those in the absence of catalase. However, the decreases in cell survival in RSV-SOD cultures were significantly less than those in host cells in the presence of catalase. Furthermore, the levels of lipid peroxidation in RSV-SOD cells exposed to the X/XO system in the presence or absence of catalase were lower than those in host cells. These results indicated that the increase in cellular SOD activity by transfection with the hSOD gene protects cells from oxidative stress.
Conclusions. Human SOD gene therapy may be useful for treatment of diseases in which oxidative tissue damage is produced. 相似文献