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61.
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B) 总被引:4,自引:1,他引:4
Sanfilippo B syndrome is caused by a deficiency of alpha-N-
acetylglucosaminidase, a lysosomal enzyme involved in the degradation of
heparan sulphate. Accumulation of the substrate in lysosomes results in
degeneration of the central nervous system with progressive dementia often
combined with hyperactivity and aggressive behaviour. In order to clone the
deficient gene, we purified the enzyme from human placenta and obtained
amino acid sequence information. Alignment of one of the CNBr generated
internal peptides to sequence from the database revealed the chromosomal
location of the gene in the 5' upstream flanking region of the gene for
17-beta-hydroxysteroid-dehydrogenase at 17q21.1. The available DNA sequence
was used to clone the cDNA coding for alpha-N- acetylglucosaminidase and
analyse its gene structure. The gene is fully contained in the 5' upstream
flanking region of the gene for 17-beta- hydroxysteroid-dehydrogenase and
interrupted by five introns. The cDNA clone has a length of 2575 bp and
encodes a protein of 743 amino acids. Chinese hamster ovary cells
transfected with the cDNA construct show alpha-N-acetylglucosaminidase
activity about 17-fold over background. This will allow correction studies
with NAG deficient Sanfilippo B cell lines and facilitate the development
of enzyme replacement therapy for these patients.
相似文献
62.
灵芝生物碱甲和乙的合成 总被引:2,自引:0,他引:2
灵芝为担子菌类多孔菌科灵芝属植物的子实体。人工培养的有赤芝、紫芝、薄盖灵芝和树舌等。灵芝是我国广泛流传的珍贵药物之一。近年来,对于灵芝的临床疗效和药理作用做了多方面的研究,证明对慢性气管炎、慢性肝炎、冠心病、白细胞减少症、慢性克山病和神经衰弱等都有一定的疗效,特别是对神经系统和肝脏功能具有调节作用。深层培养的薄 相似文献
63.
Splenic trauma: can CT grading systems enable prediction of successful nonsurgical treatment? 总被引:1,自引:0,他引:1
The capability of computed tomographic (CT) grading systems to enable prediction of successful nonsurgical treatment of splenic trauma in children and adults was evaluated. Fifty-six patients with documented splenic injury were examined with CT by use of standard trauma protocols. Each CT scan was graded according to two recently proposed grading systems. The charts of these patients were then reviewed, and correlations between the CT grade and clinical outcome were determined with each grading system. Forty patients underwent successful nonsurgical treatment; three of these patients (8%) underwent delayed celiotomy for splenic rupture after failure of nonsurgical treatment. Two of these three had grades that indicated nonsurgical treatment was viable. In each of these three patients, splenectomy was necessary. In the 16 patients who underwent surgery, eight cases (50%) of CT grading errors were documented with surgery. In four cases, the extent of the injury was underscored with CT, and in another four cases the injury was overscored. It is still not clear whether the severity of splenic injury as defined with CT correlates with clinical outcome. 相似文献
64.
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67.
Ocular MR imaging and spectroscopy: an ex vivo study 总被引:2,自引:0,他引:2
Gomori JM; Grossman RI; Shields JA; Augsburger JJ; Joseph PM; DeSimeone D 《Radiology》1986,160(1):201-205
Six eyes, freshly enucleated because of choroidal melanoma, were imaged on a 1.4-T superconducting magnetic resonance (MR) imaging system, and relaxation times were calculated for various parts of the eye. Unfixed fresh tissue samples were obtained for nuclear magnetic resonance spectroscopy (NMRS) on a variable-field (0.19-1.4 T) resistive unit. Detailed ocular anatomy was demonstrated. The NMRS relaxation times correlated with the MR imaging intensity patterns. The sensitivity of MR imaging to states of hydration provides an excellent window for appreciation of ocular anatomy. 相似文献
68.
G S Dorfman J J Cronan T B Tupper R N Messersmith D F Denny C H Lee 《AJR. American journal of roentgenology》1987,148(2):263-266
Ventilation-perfusion scans were used in a prospective study to determine the prevalence of occult pulmonary embolus in proven deep venous thrombosis. Fifty-eight patients without symptoms of pulmonary embolism, but with venographically proven deep venous thrombosis, were subjected to chest radiographs, 99mTc macroaggregated-albumin perfusion scans, and 133Xe ventilation scans. Of the 49 patients with deep venous thrombosis proximal to the calf veins, 17 (35%) had high-probability scans. Of all 58 patients, only 12 (21%) had normal scans. When the study population was compared with a group of 430 patients described in reports of pulmonary perfusion in asymptomatic persons, a significantly higher percentage of high-probability scans was found in the study population with deep venous thrombosis. Baseline ventilation-perfusion lung scanning is valuable for patients with proven above-knee deep venous thrombosis. 相似文献
69.
Forty-three professional and amateur athletes with persistent shoulder pain that interfered with their sports activities were evaluated by computed tomographic (CT) arthrography. In 19 patients, glenohumeral instability (14 anterior, two posterior, three multidirectional) was diagnosed with CT arthrography based on the simultaneous presence of labral and capsular lesions. The findings were crucial in establishing the diagnosis of instability in six patients in whom the condition was not suggested or could not be confirmed clinically. Another significant injury consisted of labral lesions not associated with glenohumeral instability. These tears often involved the anterior and parasuperior segments of this structure. Other, less frequently detected lesions included segmental labral enlargement and several labra with abnormal orientation (everted labrum). Early onset of degenerative disease was present in many athletes, especially those with a long history of sports activity. CT arthrographic findings were correlated with arthroscopic or surgical results in 19 patients. 相似文献
70.
JJ Lefrere ; M Mariotti ; D Vittecoq ; B Noel ; AM Courouce ; P Lambin ; C Salmon ; P Rouger 《Transfusion》1991,31(3):205-211
The possible existence of human immunodeficiency virus type 1 (HIV-1) infection in asymptomatic seronegative at-risk individuals was investigated in a prospective study of 55 seronegative high-risk individuals (42 homosexual men and 13 heterosexual individuals) and 32 seronegative hemophiliacs treated with factor VIII or IX concentrates before viral inactivation by heat treatment and systematic screening of blood donations. Tests used include the polymerase chain reaction assay with three primer pairs (one in the gag region and two in the pol region) and tests for serum p24 antigen, anti-nef serology (Western blot), and five biologic markers frequently altered by HIV infection (CD4 lymphocyte count, serum beta 2-microglobulin and neopterin concentration, and serum IgG and IgA concentration). Although 91 of 92 HIV-1-seropositive persons were positive in testing with at least one primer pair, no positive result was observed in seronegative at-risk individuals or in 117 seronegative low-risk controls. No nef antibody was found in seronegative at-risk individuals or seronegative controls, but 44 (47%) of 92 HIV-1-seropositive persons had nef antibodies. These findings do not support the existence of frequent HIV-1 infection in seronegative at-risk individuals. 相似文献