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51.
Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression. 总被引:3,自引:0,他引:3 下载免费PDF全文
R Y Kim F W Fitzke A T Moore M Jay C Inglehearn G B Arden S S Bhattacharya A C Bird 《The British journal of ophthalmology》1995,79(1):23-27
The genetic locus causing autosomal dominant retinitis pigmentosa (adRP) has recently been mapped in a large English family to chromosome 7p. Eight affected members of this family were studied electrophysiologically and psychophysically with dark adapted static threshold perimetry and dark adaptometry. The phenotypes observed fell into three categories: minimally affected with no symptoms, and normal (or near normal) electrophysiology and psychophysics; moderately affected with mild symptoms, abnormal electroretinograms, and equal loss of rod and cone function in affected areas of the retina; and severely affected with extinguished electroretinograms and barely detectable dark adapted static threshold sensitivities. The mutation in the gene on 7p causing adRP in this family causes regional retinal dysfunction with greatly variable expressivity ranging from normal to profoundly abnormal in a manner not explained by age. 相似文献
52.
53.
Shunichi Takaya MD Shunzaburo Iwatsuki Takashi Noguchi Hisaaki Koie Iman Zaghloul Raman Venkataramanan Thomas E. Starzl 《Surgery today》1989,19(1):49-56
The influence of experimentally induced hepatic dysfunction on the pharmacokinetics of Cyclosporine A (CsA) was determined
in dogs. The pharmacokinetics of oral (PO) and intravenous (IV) CsA were studied before and after 70 per cent hepatectomy
or complete bile duct ligation (CBDL). Changes in liver function were monitored by serial measurements of serum bilirubin,
and by the maximum removal rate (Rmax) and plasma disappearance rate (ICG-K) of indocyanine green (ICG). Concentrations of
CsA in whole blood were measured by HPLC. Seventy per cent hepatectomy caused significant liver dysfunction: the ICG-Rmax
decreased by 47.7±7.1 per cent (mean±SD) and the ICG-K decreased by 61.3±9.7 per cent during the first week after hepatectomy.
At the same time, the systemic clearance (CLs) of IV-CsA decreased by 43.9±8.2 per cent, the area under the concentration
curve (AUC) of IV-CsA increased by 35.4±20.8 per cent and the bioavailability of CsA decreased by 26.4±14.8 per cent. CBDL
also induced significant liver dysfunction: the ICG-Rmax decreased by 39.1±12.8 per cent and the ICG-K decreased by 65.6±3.6
per cent in the second week after the operation. During the same period, the AUC of PO-CsA decreased by 69.9±10.7 per cent
and the bioavailability of CsA also decreased markedly by 73.9±15.6 per cent. These data indicate that hepatic impairment
significantly influences the pharmacokinetics of CsA, not only by the changes in intestinal absorption, but also by those
in hepatic, metabolism. Dose adjustment is therefore necessary in the presence of hepatic dysfunction in order to maintain
an adequate blood concentration of CsA without causing side effects.
This research was performed in the Department of Surgery, University of Pittsburgh Health Center, University of Pittsburgh,
USA 相似文献
54.
A paratesticular rhabdomyosarcoma occurred in a child with factor IX deficiency and neurofibromatosis, illustrating the need to consider carefully the various etiologic possibilities of a soft-tissue mass in a child with neurofibromatosis and/or a bleeding disorder. 相似文献
55.
Various 2-(4-biphenoxymethyl)-5-arylamino-1,3,4-oxadiazoles were synthesized by cyclization of the corresponding 1-(4-biphenoxyacetyl)-4-substituted thiosemicarbazides. These compounds were characterized by their elemental analyses and infrared, mass, and nuclear magnetic resonance spectral data. All substituted thiosemicarbazides (100 mg/kg, ip) and cyclized substituted oxadiazoles (100 mg/kg, ip) possessed anti-inflammatory activity, as reflected by their ability to provide protection against carrageenin-induced edema in the rat paw which ranged from 28 to 68% and 36 to 76%, respectively. Cyclization of the substituted thiosemicarbazides, in general, resulted in an increase in the anti-inflammatory activity of their corresponding substituted oxadiazoles, with the exception of those containing 2,4-dimethyl and 3,4-dimethyl substituents in their molecular structure. Hydrocortisone (10 mg/kg, ip) and oxyphenbutazone (40 mg/kg, ip) were used as the standard reference drugs and these provided 45 and 53% protection, respectively. All compounds (1 mM) possessed antiproteolytic activity and the in vitro inhibition of trypsin-induced hydrolysis of bovine serum albumin ranged from 13 to 75% for substituted thiosemicarbazides and 39 to 70% for substituted oxadiazoles. There was no relationship between the anti-inflammatory activity of substituted thiosemicarbazides and substituted oxadiazoles and their antiproteolytic effectiveness. The low toxicity of these compounds was reflected by their high approximate LD50 values, ranging from 500 to 1000 mg/kg. 相似文献
56.
G V Raman 《Journal of human hypertension》1987,1(3):237-238
A patient with a 12 hour history of headache, breathlessness and hypotension developed acute renal failure necessitating haemodialysis for 12 days. During recovery she developed hypertension, tachycardia and facial flushing. Investigations revealed a right adrenal phaeochromocytoma. Whilst postural hypotension is common in phaeochromocytoma, profound shock with acute renal failure is rare. This may have been precipitated by concomitant drug therapy, myocardial necrosis or by necrosis within the tumour. 相似文献
57.
58.
The authors review the natural occurrence of tumour dormancy in man and animal models, which show the importance of cellular defence mechanisms in inducing and maintaining the state of tumour dormancy. Six cases of non-small-cell lung cancer are described. The patients exhibited moderate to very strong delayed hypersensitivity reactions to soluble lung-cancer antigen after specific immunotherapy. Three patients had nonregional metastases at 11, 12 and 14 years. Two had regional recurrence after 9 years, and in one patient a small hilar-node metastasis was found at autopsy after 7.6 years. In each case an immunodepressive event or drug treatment preceded resurgent growth. The effect of renal transplantation in patients with a history of surgery for cancer supports the conclusion that cellular defence mechanisms are crucial for the maintenance of tumour dormancy in man. 相似文献
59.
A case of Nasofacial Zygomycosis in a 15-year-old male patient from South India is reported. This patient had typical thickening of the nasofacial mucosa and the skin overlying it. The diagnosis was confirmed with fungal cultures. Although initially good response to treatment with potassium iodide was achieved, later the response was unsatisfactory, probably partly due to irregularity in treatment. Treatment with sulphamethoxazole--trimethoprim and prednisolone combination has resulted in remarkable improvement. 相似文献
60.
J. Keith Smith M.D. Ph.D. Gordon C. Carson III M.D. Jay D. Johnson B.S. John H. Harris Jr. M.D. D.Sc. F.A.C.R. 《Emergency radiology》1994,1(2):78-80
Purpose: To describe an educational computer aided instruction program dealing with diagnosis and classification of facial
fractures.
Methods: A program was created for use on Macintosh computers using a graphic presentation package. This program allows for
the display of high resolution digitized radiographic images and illustrations, along with integrated voice and text information.
Users can interact with the program to review complex concepts or study additional cases. Case material was obtained from
selected high quality plain radiographs and computed tomography (CT) scans obtained in the trauma center of one institution,
and was scanned on a high resolution digital scanner with image parameters optimized for viewing on the Macintosh high resolution
color monitor.
Results: The program has been installed in the computer aided instructional laboratories or trauma centers at The University
of Texas Health Science Center, Houston; The University of Alabama, Birmingham; Emory University School of Medicine, Atlanta,
Georgia; and The University of North Carolina, Chapel Hill. The program is available to radiology residents and medical students
rotating on the trauma radiology services at these institutions. Completion of the program requires 30–45 minutes.
Conclusion: Based on our initial experience, the program has been used by residents in the training programs of all institutions
with favorable results. 相似文献