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81.
K. Kawabe K. Goto I. Nishino C. Angelini Y. K. Hayashi 《European journal of neurology》2004,11(10):657-661
Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known by the term 'dysferlinopathy'. We performed mutation analyses of DYSF in 14 Italian patients from 10 unrelated families with a deficiency of dysferlin protein below 20% of the value in normal controls by immunoblotting analysis. We identified 11 different mutations, including eight missense and three deletion mutations. Nine of them were novel mutations. We also identified a unique 6-bp insertion polymorphism within the coding region of DYSF in 15% of Italian population, which was not observed in East Asian populations. The correlation between clinical phenotype and the gene mutations was unclear, which suggested the role of additional genetic and epigenetic factors in modifying clinical symptoms. 相似文献
82.
83.
Tohru Hashimoto M.D. Hironobu Nakamura Shinichi Hori Kaname Tomoda Katsuyuki Nakanishi Takamichi Murakami Takahiro Kozuka Morito Monden Mitsukazu Gotoh Chikazumi Kuroda Kenichi Wakasa Masami Sakurai 《Cardiovascular and interventional radiology》1995,18(2):82-86
Purpose: To evaluate the efficacy of transcatheter oily chemoembolization (TOCE) for hepatoceliular carcinoma (HCC) on the basis
of microscopic and macroscopic findings postembolization.
Methods: HCCs ranging in size from 0.5 to 13 cm (mean 3.6 cm) were obtained from partial hepatectomies of 100 consecutive patients
who had undergone TOCE between 20 and 246 days (mean 59.5 days) prior to surgery. The efficacy of TOCE was assessed on the
basis of the necrotic to live cell ratio of the tumors. The microscopic pattern of tumor growth was grouped into expanding
type (complete capsule formation) and replacing type (incomplete or no capsule). There were five types of macroscopic groupings:
single nodule, single nodule with extranodular growth (SNE), contiguous and noncontiguous multinodular, and massive growth
type.
Results: Among 79 cases with the expanding type, 29 (37%) had 100% HCC necrosis, but none with 100% necrosis were in the replacing
type. By macroscopic grouping, the efficacy of TOCE decreased from the single nodule type (50% of patients had 100% necrosis)
to the SNE type (21%), and the other types (9%). 相似文献
84.
We experienced 9 patients with "painful ophthalmoplegia", which included 7 cases of the Tolosa-Hunt syndrome (2 males and 5 females, with ages ranging from 36 to 65 years) and 2 cases of the orbital pseudotumor syndrome (2 females aged 42 and 68). The diagnosis of these syndromes was based upon Hunt's criteria and the presence of the intraorbital mass on the brain CT scan. Main manifestations of both syndromes were periorbital pain and ipsilateral oculomotor nerve palsies. Out of 9 cases, 1 patient with Tolosa-Hunt syndrome and 1 patient with the orbital pseudotumor syndrome had bilateral retro-orbital pain and ophthalmoplegia. Pain preceded the ophthalmoplegia except in one patient with Tolosa-Hunt syndrome. Total paralysis of the extraocular muscles supplied by the oculomotor nerve was noted in all the nine patients, and mydriasis was observed on the affected side in 4 of 7 patients with Tolosa-Hunt syndrome and 2 patients with the orbital pseudotumor syndrome. Neurological involvement was not only the oculomotor nerve but also the other cranial nerves; the optic nerve (in 4 cases with Tolosa-Hunt syndrome and 2 cases with the orbital pseudotumor syndrome), the abducens nerve (in 3 cases with Tolosa-Hunt syndrome and 1 case with the orbital pseudotumor syndrome), and the first division of the trigeminal nerve (in 2 cases with Tolosa-Hunt syndrome). Six patients with Tolosa-Hunt syndrome and 2 patients with the orbital pseudotumor syndrome had palpebral edema. Visual disturbance and palpebral edema were severer in the patients with the orbital pseudotumor syndrome. After corticosteroid hormone was administered, there was diminution of the pain within 2 weeks.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
85.
Y Ozeki K Matsumoto M Goto M Hayashi A Onitsuka M Hirose K Shimokawa 《Nihon Geka Gakkai zasshi》1988,89(3):458-463
A case of renal angiomyolipoma with bone formation is reported. A 61-year-old woman was admitted to our hospital with one month history of fever. About 15 cm in diameter mass was palpated in her right lower abdomen. Plain abdominal roentgenography, ultrasonography and computed tomography showed marked calcification in the cephalic portion of the right kidney, tumors surrounding right kidney and another tumor in the right lower abdomen. All these tumors and the kidney constituted a big mass continuously, and no fatty component was demonstrated. Total excision of the mass including the kidney was performed. The mass was 30 X 24 X 10 cm in size and 3,240 g in weight. Histologically, the tumor was compatible to renal angiomyolipoma. But, radiopaque shadows which looked like calcification were disclosed to be bones, and fatty tissues were not seen so much. Therefore, the name "benign mesenchymoma" was thought to be more acceptable than angiomyolipoma in this case. Preoperative diagnosis of renal angiomyolipoma is the demonstration of fatty densities in the tumor, and the characteristic extrarenal development should also be taken into consideration. Furthermore, the bone formation of angiomyolipoma, which is very rare might be an important finding to angiomyolipoma. 相似文献
86.
It has been reported that the two types of muscarinic receptors, "M1" and "M2", exist in the opossum lower esophageal sphincter. The presence of these muscarinic receptor subtypes had been confirmed with the discovery of the M1 selective antagonist, pirenzepine. But little is known about muscarinic receptor subtypes in gastric smooth muscle. The aim of this study was to identify the muscarinic receptor subtypes on the gastric smooth muscle responsible for the contraction of rat gastric muscle strip. Also, we examined the mechanism of the action of aclatonium napadisilate on rat gastric smooth muscle in vitro. The stimulation of M2 receptor caused the contraction of the gastric smooth muscle. McN-A-343, selective M1 agonist, caused weak contraction of the gastric smooth muscle, and this response was not affected by the selective M1 antagonist, pirenzepine. Aclatonium napadisilate stimulated M2 receptor and caused the gastric smooth muscle contraction. We conclude that the contraction of the gastric smooth muscle is caused by the stimulation of the M2 receptor and this reaction was not affected by tetrodotoxin, suggesting the M2 receptor is located directly on the gastric smooth muscle. The weak contraction of the gastric smooth muscle caused by McN-A-343 was not affected by the selective M1 antagonist, pirenzepine, suggesting that McN-A-343 may not be a pure M1 selective agonist. The action of aclatonium napadisilate is supposed to stimulate the M2 receptor. 相似文献
87.
T Taniwaki S Hosokawa I Goto N Fujii M Otsuka Y Kuwabara Y Ichiya K Hasuo M Kato 《Journal of the neurological sciences》1992,107(1):34-39
Positron emission tomography (PET) studies on regional cerebral glucose metabolism and [18F]fluorodopa uptake were performed on 3 patients with "pure akinesia without rigidity and tremors", 3 progressive supranuclear palsy (PSP) patients, and 5 patients with Parkinson's disease. The "pure akinesia" and PSP patients showed a marked decrease in glucose metabolism in the frontal cortex and striatum, and a decreased uptake of [18F]fluorodopa in the striatum. While the Parkinson's disease patients had a decreased uptake of [18F]fluorodopa in the striatum but no abnormality in the glucose metabolism. Magnetic resonance imaging (MRI) showed atrophy of the pretectum and dorsal pons in "pure akinesia" and PSP patients, but there was no such abnormality in the Parkinson's disease patients. As described above, patients with "pure akinesia" and PSP patients revealed similar findings on PET and MRI studies, while Parkinson's disease patients showed substantially different results. 相似文献
88.
Two patients with "my hand" sign in association with tactile extinction from callosal lesion, one due to left anterior cerebral artery occlusion, the other due to right anterior cerebral artery aneurysm rupture, were reported. The examination of "my hand" sign was performed with the methods proposed by Brion et al. Our patients correctly responded when they grasped their own or the examiner's thumb with their left hand. But they replied "my finger"when they grasped not only their own but also the examiner's thumb with their right hand. Left tactile extinction was observed after a routine extinction test in one patient, and it was observed in the other after the following method: both patient's index fingers were disposed in his midline position. In these methods of extinction test, they made errors in saying "right" when both fingers were touched simultaneously. However, they said "both" when their right index finger alone was touched (synchiria) during an extinction test using the following method: both index fingers of patients were approached by examiner to touch each other or for one of them to touch the examiner's finger. When they were asked whose finger they touched in this method (whose finger test), they made the same errors as seen in "my hand" sign test. These test results suggest that there is a common underlying mechanism in the "my hand" sign and extinction, because the sense of double stimulations felt when only one stimulation is given (synchiria), is a possible explanation for the "my hand" sign and the pathogenesis of synchiria appears to be related to extinction.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
89.
We investigated the relative effects of 0.5, 1.0, 1.5, 2.0 MAC halothane and enflurane, and concurrent noxious stimulus on hepatic blood flow and oxygen consumption in 14 mongrel dogs randomly divided into groups of seven each. Hepatic arterial and portal venous blood flow (HABF and PVBF, respectively) were measured continuously using ultrasonic transit time flow meter. Mean arterial blood pressure (MAP), cardiac index (CI), hepatic oxygen supply, and hepatic oxygen consumption (H
O
2) were measured. Halothane significantly deceased HABF, but not PVBF in a dose dependent manner. Enflurane did not affect HABF and PVBF significantly. MAP and CI decreased in both groups, with halothane producing more marked decreases than enflurane. H
O
2 did not change with enflurane, but did with halothane, producing significant differences, with halothane being greater at 1.5, 2.0 MAC. A noxious stimulus only caused minor change in blood flow. The results suggest that liver blood flow and oxygen consumption are affected differently by halothane and enflurane and that halothane has a stronger tendency to cause an imbalance between liver oxygen supply and consumption than dose enflurane.(Masaki E, Yasuda N, Tanifuji Y et al.: Effect of halothane and enflurane on hepatic blood flow and oxygen consumption in dogs. J Anesth 3: 118–122, 1989) 相似文献
90.
Kenichi Aihara 《Naunyn-Schmiedeberg's archives of pharmacology》1989,339(4):469-473
Summary Effects of the calcium-channel antagonist, nitrendipine, on the autoregulation of regional cerebral blood flow were studied by analysing the pressure-flow relationship in the cortex, subcortex and thalamus in pithed anesthetized rabbits. Arterial pressure was altered from 50 to 125 mm Hg by electrical stimulation of the spinal nerve roots. Regional blood flow was measured with the hydrogen clearance technique. Under control conditions, regional blood flow in the cortex, subcortex and thalamus did not change significantly within the range of mean arterial pressures of 50 to 100 mm Hg. Vascular resistance in each region rose significantly (P < 0.05) in a pressure-dependent manner. During the intravenous infusion of nitrendipine (0.3 and 1 g · kg–1 · min–1), blood flow to the three regions of the brain increased in a pressure-dependent manner when mean arterial pressure was increased from 50 to 125 mm Hg. The autoregulatory increase in regional vascular resistance was abolished. In addition, nitrendipine produced a blood pressure-dependent decrease of the vascular resistance in the subcortex and thalamus but not in the cortex. These results indicate that nitrendipine increases regional cerebral blood flows and suppresses regional autoregulations simultaneously. The autoregulatory adjustment in the cortex is more resistant to nitrendipine than that in the subcortex and thalamus. The observation that the action of nitrendipine was not the same in the three brain regions may be due to the vascular beds of these regions differing in their calciumchannel equipment. 相似文献