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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
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Shinichiro Uchiyama Takao Hoshino Leila Sissani Monteiro Tavares Linsay Kenji Kamiyama Taizen Nakase Kazuo Kitagawa Kazuo Minematsu Kenichi Todo Yasushi Okada Jyoji Nakagawara Ken Nagata Hiroshi Yamagami Takenori Yamaguchi Pierre Amarenco 《Journal of stroke and cerebrovascular diseases》2019,28(8):2232-2241
BackgroundTIAregistry.org is an international cohort of patients with transient ischemic attack (TIA) or minor stroke within 7 days before enrollment in the registry. Main analyses of 1-year follow-up data have been reported.5 We conducted subanalysis on the baseline and 1-year follow-up data of Japanese patients.MethodsThe patients were classified into 2 groups based on Japanese ethnicity, Japanese (345) and non-Japanese (3238), and their baseline data and 1-year event rates were compared. We also determined risk factors and predictors of 1-year stroke.ResultsCurrent smoking, regular alcohol drinking, intracranial arterial stenosis, and small vessel occlusion; and hypertension, dyslipidemia, coronary artery disease, and extracranial arterial stenosis were more and less common among Japanese patients, respectively. Stroke risk was higher and TIA risk was lower at 1-year follow-up among Japanese patients. The baseline risk factors for recurrent stroke were diabetes, alcohol drinking, and large artery atherosclerosis. Independent predictors of 1-year stroke risk were prior congestive heart failure and alcohol consumption.ConclusionsThe two populations of patients featured differences in risk factors, stroke subtypes, and outcome events. Predictors of recurrent stroke among Japanese patients included congestive heart failure and regular alcohol drinking. Strategies to attenuate residual risk of stroke aside from adherence to current guidelines should take our Japanese-patient specific findings into account. 相似文献
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Kiyotaka YOH Makoto TAHARA Kenji KAWADA Hirofumi MUKAI Masanobu NAKATA Kuniaki ITOH Mitsuhiko KAWASHIMA Hideki NISHIMURA Ryuichi HAYASHI Takashi OGINO Hironobu MINAMI 《Asia-Pacific Journal of Clinical Oncology》2006,2(4):180-184
Background: Olfactory neuroblastoma is a rare sino‐nasal tumor arising from the olfactory epithelium and is often characterized by local invasion or metastasis. The role of chemotherapy in the treatment of this tumor is unclear. The purpose of this study was to review our institution’s experience of chemotherapy for advanced or recurrent olfactory neuroblastoma. Methods: Twenty‐one patients with histologically proven olfactory neuroblastoma were treated at our institution between 1992 and 2002. Twelve of these patients received chemotherapy in the setting of unresectable or recurrent disease and were retrospectively reviewed for clinical characteristics, treatment outcome or survival. Results: Eight patients of the 12 patients received cisplatin‐based chemotherapy and the remaining four patients received chemotherapy consisting of docetaxel plus irinotecan (three patients) or cyclophosphamide, doxorubicin, and vincristine (1 patient). A partial response was achieved in five patients, with an overall response rate of 42%, although the chemotherapeutic regimens were heterogeneous. Two partial responses were obtained among the three patients who received docetaxel plus irinotecan. The response rate to chemotherapy was 83% in the younger age group (<40 years), as opposed to 0% in the older age group (≥40 years), and the difference between the two groups was statistically significant (P = 0.02). Conclusion: Our study indicated that olfactory neuroblastoma would be sensitive to chemotherapy, especially with young patients. Docetaxel plus irinotecan has the possibility of showing favorable response, and warrants further investigation. 相似文献
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Haruhito Adam Uchida Yoshio Nakamura Masanobu Kaihara Hisanao Norii Yoshihisa Hanayama Hitoshi Sugiyama Yohei Maeshima Yasushi Yamasaki Hirofumi Makino 《Nephrology, dialysis, transplantation》2006,21(12):3475-3480
BACKGROUND: Decreased plasma adiponectin is associated with impaired endothelial function and, thereby, increased risk for cardiovascular events. Glucocorticoid (GC) affects vascular endothelial cells either favourably or harmfully depending upon the dosages and duration. We examined the effect of GC pulse therapy on vascular endothelial function. METHODS: Fourteen young patients with IgA nephropathy were evaluated for flow-mediated vasodilation (FMD), plasma levels of adiponectin both in high molecular weight (HMW adiponectin) form and in single molecular form (total adiponectin), hepatocyte growth factor (HGF), asymmetric dimethylarginine (ADMA), and high-sensitive C-reactive protein, before and after a course of GC pulse therapy. RESULTS: GC pulse therapy significantly decreased FMD (from 7.2 +/- 2.6 to 5.7 +/- 2.5%, P < 0.01). Meanwhile, plasma adiponectin levels were significantly augmented (total adiponectin: from 10.2 +/- 4.0 to 12.1 +/- 6.3 microg/ml, P < 0.05; HMW: from 6.5 +/- 3.2 to 7.7 +/- 3.3 microg/ml, P < 0.05). In parallel, elevated concentrations of serum HGF (from 0.28 +/- 0.12 to 0.63 +/- 0.38 ng/ml, P < 0.01) and plasma ADMA (from 0.45 +/- 0.07 to 0.53 +/- 0.04 nmol/ml, P < 0.05) were observed. CONCLUSIONS: GC pulse therapy impaired endothelial function while increasing plasma adiponectin levels, which may in turn restore the endothelial function in patients with IgA nephropathy. 相似文献
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M Yoshino Y Sakaguchi N Kuriya Y Ohtani F Yamashita T Hashimoto K Oyanagi K Tada K Narisawa T Kitagawa 《Neuropediatrics》1991,22(4):198-202
A nationwide survey of transient hyperammonemia in newborns was carried out in Japan. A total of 18 patients, consisting of 12 male and 6 female infants, were reported from 11 facilities. These neonates exhibited hyperammonemia with plasma ammonia levels in the range from 124 to 6256 micrograms/dl. Four newborn infants of the 18 died in the neonatal period, and an additional one died in the early infancy. Among the 13 infants who were alive at the time of this survey, 6 had neurological sequelae, including mental retardation, spastic quadriplegia and epilepsy. The multivariate analysis revealed that the Apgar score at 1 minute, peak plasma ammonia concentration, birth weight and sex were significant factors affecting the prognosis of life. 相似文献
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Y Kawachi S Iwata S Takahashi Y Ogawa R Kitagawa 《Hinyokika kiyo. Acta urologica Japonica》1986,32(4):527-531
Ninety-one patients with operation history for urotheliomas were followed-up by urinary cytology for 17.5 months on the average. Cytologically, fresh urine was examined every month and vesical irrigation fluid every three months. Cystoscopy was also performed every three months, IVP every six months, and biopsy was performed when carcinoma or dysplasia was suspected. As a result, cases were classified into four groups. Group 1: All cytological examination were negative. Group 2: Cytology was positive for two or three months after TUR-Bt during which period vesical instillation therapy of anti-cancer drugs was performed, but was negative after this period. Group 3: Positive and negative cytology were diagnosed irregularly. Group 4: All cytological examinations were positive. The numbers of cases classified into these groups were 27 (29.7%), 7 (7.7%), 43 (47.3%) and 14 (15.4%), respectively. Tumor recurrence was seen in 1/27 (3.7%), 0/7, 12/43 (27.9%) and 4/14 (28.6%) cases, respectively. Metastasis was seen in only five cases of the group 4. Tumor recurrence and positive urinary cytology at the same time were seen in nine cases (20.9%) of group 3, and eight cases (57.1%) of group 4. Thirty four cases (79.1%) with discrepancy of cytological and endoscopic findings in group 3, in which cases 20 cases had only positive irrigation cytology and 11 cases had positive fresh urine and irrigation specimens, were more suspicious of temporary existence of in situ carcinomas or dysplastic urothelium. Of six cases with the discrepancy in group 4, three cases were in situ carcinoma diagnosed by random biopsies, and four cases had positive cytologies after TUR-Bt continuously.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献