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排序方式: 共有95条查询结果,搜索用时 31 毫秒
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2.
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy 总被引:70,自引:0,他引:70
E P Hoffman K H Fischbeck R H Brown M Johnson R Medori J D Loike J B Harris R Waterston M Brooke L Specht 《The New England journal of medicine》1988,318(21):1363-1368
A deficiency of the protein dystrophin has recently been shown to be the probable cause of Duchenne's muscular dystrophy. We sought to determine the relation between the clinical phenotype and the status of dystrophin in muscle-biopsy specimens from 103 patients with various neuromuscular disorders. We found very low levels (less than 3 percent of normal levels) or no dystrophin in the severe Duchenne phenotype (35 of 38 patients), low concentrations of dystrophin in the intermediate (outlier) phenotype (4 of 7), and dystrophin of abnormal molecular weight in the mild Becker phenotype (12 of 18). Normal levels of dystrophin of normal molecular weight were found in nearly all the patients (38 of 40) with 20 other neuromuscular disorders we studied. These data show the clinical consequences of both quantitative alterations (in Duchenne's and intermediate dystrophy) in a single protein. The biochemical assay for dystrophin should prove helpful in delineating myopathies that overlap clinically with Duchenne's and Becker's dystrophies, and it shows promise as an accurate diagnostic tool. 相似文献
3.
Crotti D D'Annibale ML Ubaldi M Fonzo G Medori MC 《Le infezioni in medicina : rivista periodica di eziologia, epidemiologia, diagnostica, clinica e terapia delle patologie infettive》2002,10(4):213-219
During 2001 we analyzed 1730 pharyngeal swabs for S. pyogenes (SGA): 1142 children (0-10 years old), 132 adolescent subjects (11-17 years old), and 456 adults (18 or more years old). 994 subjects (664 children, 85 adolescent ones, 245 adults) had acute pharyngotonsillitis. In this last group we observed 321 positivities (32.3 %) for SGA: 40.4 % among children, 24.7 % among adolescent people, 13.1 % among adults. The pharyngotonsillitis prevailed during winter and spring. The resistances (R) towards erythromycin were 27.7 % (89 cases), and among children 30.6 % (82 cases), towards clyndamicin 15.3 % (49 cases, and 17.2 %, 46 cases, among children), towards rokytamicin 11.8 % (38 cases, and 13.1 %, 35 cases, among children). These were the phenotypes of R to erythromycin: 25.8 % M-phenotype, 19.1 % inducible (iMLS), 55.1 % constitutive (cMLS); among children respectively 25.6 %, 18.3 % and 53.7 %. Increased resistances towards 16-C macrolides, increased resistances of cMLS to erythromycin, and the persistence of R to 14-C macrolides around 30 % are discussed. 相似文献
4.
B. Barbiroli R. Medori H. -J. Tritschler T. Klopstock P. Seibel H. Reichmann S. Iotti R. Lodi P. Zaniol 《Journal of neurology》1995,242(7):472-477
A woman affected by chronic progressive external ophthalmoplegia and muscle mitochondrial DNA deletion was studied by phosphorus magnetic resonance spectroscopy (31P-MRS) prior to and after 1 and 7 months of treatment with oral lipoic acid. Before treatment a decreased phosphocreatine (PCr) content was found in the occipital lobes, accompanied by normal inorganic phosphate (Pi) level and cytosolic pH. Based on these findings, we found a high cytosolic adenosine diphosphate concentration [ADP] and high relative rate of energy metabolism together with a low phosphorylation potential. Muscle MRS showed an abnormal work-energy cost transfer function and a low rate of PCr recovery during the post-exercise period. All of these findings indicated a deficit of mitochondrial function in both brain and muscle. Treatment with 600 mg lipoic acid daily for 1 month resulted in a 55% increase of brain [PCr], 72% increase of phosphorylation potential, and a decrease of calculated [ADP] and rate of energy metabolism. After 7 months of treatment MRS data and mitochondrial function had improved further. Treatment with lipoate also led to a 64% increase in the initial slope of the work-energy cost transfer function in the working calf muscle and worsened the rate of PCr resynthesis during recovery. The patient reported subjective improvement of general conditions and muscle performance after therapy. Our results indicate that treatment with lipoate caused a relevant increase in levels of energy available in brain and skeletal muscle during exercise. 相似文献
5.
Prof. Yukinobu Watanabe Masahiro Ogawa Masahiro Kaneko Mariko Kumagawa Midori Hirayama Naoki Matsumoto Hiroshi Nakagawara Toshiki Yamamoto Mitsuhiko Moriyama 《Radiology and oncology》2022,56(1):69
BackgroundLocal tumor recurrence of hepatocellular carcinoma (HCC) often occurs in blood drainage areas. Corona enhancement is determined by computed tomography during hepatic arteriography (CTHA) and is considered to represent the blood drainage area. This study aimed to investigate the relationship between embolization of corona enhancement area and local tumor recurrence of patients with HCC who underwent transcatheter arterial chemoembolization (TACE).Patients and methodsThe study retrospectively selected 53 patients with 60 HCC nodules that showed corona enhancement area on late-phase CTHA and showed homogenous accumulation of iodized oil throughout the nodule on non-contrast-enhanced CT performed immediately after TACE. We divided the nodules into two groups, according to whether the accumulation of iodized oil covered the entire corona enhancement area (group A) or not (group B). Local tumor recurrence was compared between the two groups.ResultsThe cumulative local tumor recurrence rates for group A (n = 36) were 2.8%, 2.8%, 8.3% at 3, 6, and 12 months, respectively, whereas the recurrence rates for group B (n = 24) were 20.8%, 45.8%, 75% at 3, 6, and 12 months, respectively. The cumulative local tumor recurrence rates for group A were significantly lower than those for group B (hazard ratio, 0.079; 95% confidence interval, 0.026–0.24; p < 0.001).ConclusionsThe results of the study suggest that the corona enhancement area may be an accurate safety margin in TACE which should be performed until the embolic area covers the entire corona enhancement area.Key words: corona enhancement, transcatheter arterial chemoembolization, computed tomography during hepatic arteriography, hepatocellular carcinoma 相似文献
6.
7.
Plasma antipsychotic concentration and receptor occupancy, with special focus on risperidone long-acting injectable. 总被引:1,自引:0,他引:1
Although effective plasma concentration ranges have been established for some antipsychotics, conventional and atypical, there is considerable inter-patient pharmacokinetic variation. Positron-emission tomography (PET) can be used to estimate D(2)-like receptor occupancy in the brain needed for an antipsychotic effect and the level above which extrapyramidal side effects (EPS) develop. For conventional antipsychotics, the window occupancy is approximately 70-80%. For the atypical antipsychotic risperidone, the antipsychotic effect starts at approximately 60% occupancy, with occupancy above 80% leading to EPS. The new formulation, risperidone long-acting injectable (RLAI), comprises risperidone in a biodegradable polymer. It is effective long-term at doses of 25 or 50 mg injected i.m. every 2 weeks. The constant and slow release of the long-acting formulation leads to less fluctuation in plasma levels and to a D(2)-like receptor occupancy which is below the threshold for EPS. 相似文献
8.
Salvatore Minisola Rossella Antonelli Addolorata Scarpiello Claudio Medori Carlo Valtorta Gianfranco Mazzuoli 《International Journal of Clinical & Laboratory Research》1984,14(4):649-655
Summary This study was carried out in order to investigate the effects of age on the urinary excretion of total and non-dialyzable
hydroxyproline (OHPr) in normal subjects. We found that total urinary OHPr was negatively correlated with age but, by means
of partial regression analysis, no correlation was found after correction for changes in creatinine clearance; on the contrary,
non-dialyzable OHPr showed a statistically significant negative correlation with age (r=−0.56) even when creatinine clearance
was held constant (p<0.05). A highly significant direct correlation was found between total and non-dialyzable OHPr in the
whole group (r=0.54) and when only premenopausal women and men under 60 years of age were considered (r=0.51). No correlation
was found when postmenopausal women and men more than 60 year-old were taken into account. Our data appear to indicate that
also the decrease in osteogenetic activity is responsible for the physiological late involutional bone loss; they also show
the importance of hormonal changes in inducing an uncoupling between bone formation and resorption.
This work was supported by a grant from theConsiglia Nazionale delle Ricerche (CNR), Roma, Italy 相似文献
9.
12-month efficacy and safety of OROS® MPH in children and adolescents with attention-deficit/hyperactivity disorder switched from MPH 总被引:3,自引:0,他引:3
Hoare P Remschmidt H Medori R Ettrich C Rothenberger A Santosh P Schmit M Spender Q Tamhne R Thompson M Tinline C Trott GE 《European child & adolescent psychiatry》2005,14(6):305-309
PURPOSE: The aim of this study was to evaluate long-term clinical treatment with OROS methylphenidate (MPH) (Concerta) in children and adolescents with attention-deficit/hyperactivity disorder (ADHD) who had been previously treated with immediate release (IR) MPH. METHODS: Subjects aged 6-16 years (n=105) who were stable on IR MPH (10-60 mg/day) were switched to 18, 36 or 54 mg OROS MPH once daily for 21 days, depending on prestudy MPH dose. Subjects who benefited from OROS MPH could continue in a 12-month extension period. ADHD symptoms and treatment response were assessed by parents/caregivers and investigators. RESULTS: Out of 105 enrolled children, 101 completed the 21-day treatment phase. In all, 89 parents/caregivers (88.1%) wanted their child to continue with the study treatment into the extension phase, and 56 children (63 %) completed the 1-year trial. The parent/caregiver global assessment of satisfaction ranged from 49 to 69% during the extension phase, and 49 to 71% of investigators rated the treatment as adequate. Efficacy and satisfaction were found more commonly in patients in the older age group (10-16 years), those on a higher dose (36 mg or 54 mg) and with the predominantly inattentive ADHD subtype. OROS MPH was well tolerated. CONCLUSIONS: Children and adolescents can effectively and safely be switched from IR MPH to OROS MPH with improved symptom control and compliance. 相似文献
10.
Shirahama S Aritomi T Takeo S Ando K Wakamatsu S Kumagawa M Ichinose I Tamura K 《Gan to kagaku ryoho. Cancer & chemotherapy》2004,31(13):2133-2137
This pilot study was performed to evaluate the safety and efficacy of weekly paclitaxel (TXL) administration by 1-hour infusion. A total of 10 patients with previously-treated advanced non-small cell cancer (NSCLC) were treated with weekly paclitaxel. TXL was administered weekly at a dose of 80 mg/m2, 3 times in a 4-week cycle, or 6 times in an 8-week cycle. A total of 6 patients achieved partial response, although no complete responses were observed. Median time to progression was 5 months (2-11 months). Grade 4 leukopenia occurred in one patient, and grade 3 neutropenia was observed in one patient. Severe non-hematological toxicity was uncommon; grade 1 neuropathy in 2 patients. This regimen had good clinical efficacy with low toxicity in outpatients with advanced NSCLC. 相似文献