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61.
Shimizu S Krafchak C Fuse N Epstein MP Schteingart MT Sugar A Eibschitz-Tsimhoni M Downs CA Rozsa F Trager EH Reed DM Boehnke M Moroi SE Richards JE 《American journal of medical genetics. Part A》2004,(4):372-377
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. Results of a 317-marker genome scan provided significant evidence of linkage of PPCD to markers on chromosome 10, with single-point LOD scores of 2.63, 1.63, and 3.19 for markers D10S208 (at (circumflex)theta = 0.03), D10S1780 (at (circumflex)theta = 0.00), and D10S578 (at (circumflex)theta = 0.06). A maximum multi-point LOD score of 4.35 was found at marker D10S1780. Affected family members shared a haplotype in an 8.55 cM critical interval that was bounded by markers D10S213 and D10S578. Our finding of another PPCD locus, PPCD3, on chromosome 10 indicates that PPCD is genetically heterogeneous. Guttae, a common corneal finding sometimes observed along with PPCD, were found among both affected and unaffected members of the proband's sib ship, but were absent in the younger generations of the family. Evaluation of phenotypic differences between family members sharing the same affected haplotype raises questions about whether differences in disease severity, including differences in response to surgical interventions, could be due to genetic background or other factors independent of the PPCD3 locus. 相似文献
62.
The influence of intestinal microflora and aging on the lipid metabolism in germfree (GF) and conventional (CV) rats, 8 and 40 weeks old, was investigated. Serum cholesterol at the age of 8 and 40 weeks and serum triglyceride (TG) at the age of 40 weeks was higher in GF than in CV rats. Serum cholesterol decreased and serum TG and corticosterone tended to increase in both GF and CV rats with aging. In the rats 40 weeks of age, lipase activity of the pancreas and the duodenal, jejunal, and colorectal contents in GF rats increased, but that of the ileal and cecal contents in GF and CV rats decreased. Intestinal microflora tended to depress the age-related increase of serum TG and lipase activity of the pancreas and the duodenal and jejunal contents Lipoprotein lipase (LPL) and hormone-sensitive lipase (HSL) activities of the epididymal adipose tissue were higher in CV than in GF rats at both 8 and 40 weeks of age. The LPL activity increased and the HSL activity decreased in both GF and CV rats with aging. The concentration of cholesterol increased and that of bile acids decreased in the cecal contents of 40-week-old GF rats. 相似文献
63.
Immunohistochemical profile of primary sclerosing Iipogranuloma of the scrotum: Report of five cases
Kazuo Watanabe Nobuo Hoshi Kei-ichi Baba Takeaki Fukuda Hando Hakozaki Toshimitsu Suzuki 《Pathology international》1995,45(11):854-859
Five cases of primary sclerosing scrotal lipogranuloma were examined histologically and immunohistochemically. Every case lacked a history of injection or trauma, and revealed Common histologicat features; a typical granuloma composed of epithelioid cells and multinucleated giant cells, and inflammatory infiltrates of eosinophils, lymphocytes and macrophageimonocytes in the interstitium. lmmunahistochemistry disclosed the epithelioid cells and multinuclaated giant cells of the granuloma to be monocytetr in nature, as bath types of cells were positive for lyso-yme, α-1-antltrypin, α-1-antichymotrypsin, and KP-1. In the interstitium, KP-1 positive monocytes, L-26 positive B lymphocytes, UCHL-1 positive T lymphocytes and 5–100 protein positive Langerhans-like cells were frequently found. 5100 protein positive cells could not be detected in the granuloma. Primary sclerosing lipogranuloma of the scrotum, therefore, is a peculiar inflammation characterized by granulomas consisting of monocytes and marked tissue eosinophilia of unknown etiology. 相似文献
64.
Nobuo Baba MD Takashi Suzuki MD Takayoshi Tobe MD Kazutomo Inoue MD Parimal Chowdhury PhD Louis W. Chang PhD Phillip L. Rayford PhD 《Digestive diseases and sciences》1986,31(11):1233-1241
Obstructive jaundice was produced in rats by ligation and transection of bile duct outside the liver; the control group underwent laparotomy alone. Pancreatic wet weight, amylase, lipase, protein, DNA, RNA, RNA/DNA ratio, and weight/100 g DNA were significantly increased in jaundiced rats when compared to control rats. Histologic evaluation of pancreatic tissue obtained from jaundiced rats revealed the appearance of large or multiple nuclei in pancreatic acinar cells. Basal plasma levels of immunoreactive CCK were significantly increased in haundiced rats at two weeks and four weeks but, when compared to the levels obtained in laparotomized controls at those time intervals, CCK levels were not significantly different. In jaundiced rats, plasma immunoreactive gastrin was found to be significantly decreased at two and four weeks. Plasma gastrin levels were also found significantly decreased when the jaundiced group was compared with laparotomized control group. The results suggest that obstructive jaundice induced enlargement of the pancreas, probably due to hyperplasia and hypertrophy of pancreatic cells. Whether or not this phenomenon is related to changes in gastrin and CCK is not known.This work was presented in part at the 36th Kinki Section Meeting of Japanese Gastroenterological Association (January 1982) in Osaka, Japan; at the Annual Meeting of the Japanese Pancreatic Association (March 1982) in Hiroshima, Japan; and at the American Gastroenterological Association (May 1983) in Washington, D.C.; and appeared in abstract form inGastroenterology 84: 1095, 1983. 相似文献
65.
Yasunari Ikuta Tomoyuki Nakasa Junichi Sumii Akinori Nekomoto Nobuo Adachi 《The Journal of foot and ankle surgery》2021,60(2):396-398
Recent reports have described midterm natural courses of osteochondral lesion of the talus (OLT) and lack of progression of ankle osteoarthritis (OA) in adult patients. The relationship between the OLT managed with nonoperative treatment and development of OA in children remains unknown. We report the long-term course of medial OLT in a 12-year-old female who was treated nonoperatively for 10 years. Radiographically, no osteoarthritic changes were observed at the first examination. She initially returned to her basketball club after nonoperative treatment. Although daily activities were not restricted, limitation of recreational activities began to appear at 4 years of follow-up. Subsequently, plain radiographs revealed bone absorption around the osteochondral fragment and osteophyte formation at the medial gutter, then ankle OA was advanced at the final follow-up. 相似文献
66.
Allan M. Lefer Nobuo Aoki Donna Mulloy 《Naunyn-Schmiedeberg's archives of pharmacology》1990,341(3):246-250
Summary Defibrotide is known to enhance prostacyclin (PGI2) release from the vascular endothelium. We investigated the vasoactive effects of defibrotide in isolated rat hearts perfused at constant flow subjected to ischaemia and reperfusion. Defibrotide at 10–7 or 100 g/ml did not exert any direct vasoactive effect on normal rats hearts. However, ischaemia and reperfusion resulted in an impaired vasodilation to acetylcholine, an endothelium-dependent vasodilator. In contrast, the vasodilator response to the endothelium-independent dilator, nitroglycerin, was unaffected. Defibrotide, at 10–7 or 100 g/ml, markedly restored the vasodilation to acetylcholine 10–7 nmol/l to 1 mol/l (P < 0.01) without influencing the vasodilator response to nitroglycerin (2 to 200 g/1). Haemoglobin (150 nmol/l) inhibited the dilation to acetylcholine in response to defibrotide. However, no evidence of (PGI2) release was observed with acetylcholine-induced vasodilation in the presence or absence of defibrotide. Additionally, 10–100 g/ml of defibrotide did not significantly decrease superoxide radicals generated by a xanthine-xanthine oxidase synthetic system under conditions in which superoxide dismutase was effective. Thus, defibrotide appears to exert an endothelium-protective effect preserving endothelium-derived relaxing factor (EDRF) without directly scavenging free signals.Supported in part by Research Grant No. HL-25575 from the National Heart, Lung and Blood Institute of the NIH
Send offprint requests to A. M. Lefer at the above address 相似文献
67.
Shu-ichi Ikeda Nobuo Yanagisawa David Allsop George G. Glenner 《Acta neuropathologica》1994,88(3):262-266
Cerebral amyloid angiopathy is observed in several brain degenerative disorders, but this pathological condition has received little attention in Gerstmann-Sträussler-Scheinker disease (GSS). We report a 69-year-old man who showed the cardinal features of GSS together with typical and extensive congophilic angiopathy. Immunohistochemical studies revealed that the vast majority of the amyloid plaques present in the brain of this patient were consistently labeled by anti-prion protein (PrP) antibody. Double immunostaining disclosed many additional -protein immunoreactive plaque-like lesions, including a special type of hybrid plaque with colocalization of PrP and -protein (-PrP). The vascular amyloid deposits seen in both the cerebellum and cerebrum were immunoreactive only to anti--protein antibody. It seems likely that the extensive deposition of -protein amyloid (including brain vascular amyloidosis) seen in this and other similar cases is part of pathology of GSS, although the possibility that this finding is due to ageing or concomitant Alzheimer's disease cannot be completely ruled out.Supported by a research grant from the Intractable Disease Division, Ministry of Health and Welfare, Primary Amyloidosis Research Committee, Japan 相似文献
68.
Shin-ichiro Nakamura Hiroyuki Nakayama Koji Uetsuka Nobuo Sasaki Kazuyuki Uchida Naoaki Goto 《Acta neuropathologica》1995,90(4):415-418
Senile plaques with -protein as a major constituent are a conspicuous feature in the brains of aged humans, monkeys, dogs, and bears. We found cerebral senile plaques of the diffuse and primitive type, but not the classical type, in an aged female camel of more than 20 years old. The senile plaques and a few cortical capillaries were immunoreactive with anti--protein serum. Congophilic amyloid deposition was detected in a small number of the capillaries, but not in the senile plaques. We believe this to be the first detailed report of senile plaques in a herbivore, and these findings suggest the ossibility of senile plaque formation in a wide variety of mammlian species. 相似文献
69.
Nobuo Miyashita Okihide Hikosaka 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1996,112(2):187-196
The synaptic organization of the saccade-related neuronal circuit between the superior colliculus (SC) and the brainstem saccade generator was examined in an awake monkey using a saccadic, midflight electrical-stimulation method. When microstimulation (50–100 A, single pulse) was applied to the SC during a saccade, a small, conjugate contraversive eye movement was evoked with latencies much shorter than those obtained by conventional stimulation. Our results may be explained by the tonic inhibition of premotor burst neurons (BNs) by omnipause neurons that ceases during saccades to allow BNs to burst. Thus, during saccades, signals originating from the SC can be transmitted to motoneurons and seen in the saccade trajectory. Based on this hypothesis, we estimated the number of synapses intervening between the SC and motoneurons by applying midflight stimulation to the SC, the BN area, and the abducens nucleus. Eye position signals were electronically differentiated to produce eye velocity to aid in detecting small changes. The mean latencies of the stimulus-evoked eye movements were: 7.9±1.0 ms (SD; ipsilateral eye) and 7.8±0.9 ms (SD; contralateral eye) for SC stimulation; 4.8±0.5 ms (SD; ipsilateral eye) and 5.1±0.7 ms (SD; contralateral eye) for BN stimulation; and 3.6±0.4 ms (SD; ipsilateral eye) and 5.2±0.8 ms (SD; contralateral eye) for abducens nucleus stimulation. The time difference between SC- and BN-evoked eye movements (about 3 ms) was consistent with a disynaptic connection from the SC to the premotor BNs. 相似文献
70.
Hiroshi Yoshizu M.D. Eriya Okuda M.D. Yoshiyuki Haga M.D. Nobuo Hatori M.D. Atsuhiro Mitsumaru M.D. Susumu Tanaka M.D. F.I.C.A. 《The International journal of angiology》1996,5(1):15-18
We studied the protective effects of intrathecally administered lidocaine against ischemic spinal cord injury during surgery. Seven patients (mean age 63.7 years, malefemale=61) with descending thoracic aortic aneurysms underwent reconstructive surgery. Following intrathecal lidocaine administration (10 ml), the operation was performed under femorofemoral bypass with an oxygenator. The aorta was cross-clamped at the distal end of the descending thoracic aorta and the proximal end of the lesions. The cross-clamping time was 47.1±23.3 minutes (mean ± SD). The operative procedure was total replacement of the descending thoracic aorta in five cases and patch closure in two. There were no operative deaths but paraparesis developed in two cases of total replacement. Neurological deficit was transient and disappeared in one case. In the other case, with 88 minutes of normothermic aortic cross-clamping, paraparesis gradually improved but was persistent after 7 months of follow-up. Graft anastomosis at the distal aortic arch was time consuming in this case and presumably caused prolonged spinal cord ischemia. Intrathecal administration of lidocaine was likely to reduce ischemic spinal cord injury and increase tolerance of the spinal cord to ischemia caused by prolonged aortic cross-clamping. This method was considered to provide a useful assistance to expand the safety limit of spinal cord ischemia in surgical reconstruction of the descending thoracic aorta requiring aortic occlusion. Tissue protective effects of intrathecal lidocaine administration may be further augmented by combining with deep hypothermia. 相似文献