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51.
S Ben Becher J el Mabrouk A Debbiche A Hammou N Ghram S Makni T Boudhina 《Archives fran?aises de pédiatrie》1992,49(9):799-802
BACKGROUND. Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies. CASE REPORTS. Case n. 1: A boy, aged 3 years 4 months, was admitted for acute respiratory disease. His main abnormalities included rigid facial expression, blepharophimosis, puckered lips, short neck, pectus carinatum, acetabular dysplasia with coxa vara, platyspondyly and marked growth retardation. There was a continuous muscle fiber activity at rest, with abnormal discharges originating in the muscle component of the neuromuscular junction. Blood investigations revealed low values of IgA. The child died at 4 years. Case n. 2: The sister of case n. 1 was examined at 14 months of age. She presented milder facies abnormalities, difficulties of gait because of stiff hips, muscular hypertrophy, coxa vara and growth retardation. X-rays showed skeletal abnormalities and the electromyogram was similar to those of her brother. She had dislocation of her optic lens. CONCLUSION. These 2 sibs have the characteristic manifestations of Schwartz-Jampel syndrome. Parental consanguinity was also present. The IgA deficiency observed in case n. 1 and the lens dislocation in case n. 2 have both been occasionally reported in this syndrome. 相似文献
52.
53.
Summary It has been suggested that age changes in the morphology of the neuromuscular junction (NMJ) may reflect altered physical activity levels rather than the unique effects of ageing. Additionally, previous studies have indicated that the structure of the NMJ may be modulated with exercise. To investigate these questions, quantitative morphometry was determined on soleus and extensor digitorum longus (EDL) nerve terminals stained with zinc iodide-osmium from C57BL/6NNia mice under control and endurance exercised conditions at 12, 18 and 24 months of age.As previously observed, the area, perimeter, extent length and branch number of nerve terminals increased with age in both soleus and EDL. The changes were similar between the muscle types, although the changes were more pronounced in the phasic EDL. In 12-month-old animals, 2 months of endurance exercise resulted in significantly larger nerve terminals in both soleus and EDL, suggesting a functional adaptation. Exercised 18- and 24-month-old nerve terminals were smaller than corresponding controls, which indicated that exercise minimized or prevented further age-related nerve terminal elaboration. At all ages the exercised nerve terminals comprised a more homogeneous population than corresponding controls, which indicates that uniform physical activity can modulate NMJ morphometry. The magnitude of the changes suggests that subtle alterations in normal cage activity with advancing age do not have a significant effect on the morphology of nerve terminals. However, the morphology of the NMJ does change significantly in response to physical exercise training. 相似文献
54.
A new human cell line, WSU-BL, was established from a malignant ascitic fluid occurring in a patient with Burkitt's lymphoma. The established line grows in a single-cell suspension with a doubling time of 19 hours and expresses L3 morphologic features by the French-American-British classification. Immunologic study revealed that WSU-BL cells express IgM-lambda both in the cytoplasm and on the surface and react with monoclonal antibodies to B-cell antigens (B1, B4, BL3, BL4, HLA-DR, and common acute lymphoblastic leukemia antigen [CALLA]). These cells are negative for T-cell and myeloid/monocyte antigens as well as Epstein-Barr virus nuclear antigen (EBNA). These results suggest that WSU-BL corresponds to an intermediate stage of B-cell differentiation. Both fresh tumor and WSU-BL cells had a hyperdiploid karyotype carrying the 8;14 chromosome translocation. Molecular studies showed that WSU-BL has a rearrangement of c-myc proto-oncogene and expresses c-myc RNA. Phorbol ester 12-0-tetradecanoylphorbol-13-acetate (TPA) and interferon-gamma (IFN-gamma) were able to induce several phenotypic changes on WSU-BL cells. Two-dimensional gel electrophoresis of total cellular protein showed that either TPA or IFN-gamma induced both the synthesis or loss of several proteins. Analysis of the protein patterns indicated that some proteins were uniquely responsive to either TPA or IFN-gamma and others were common to both. This cell line should be valuable for future studies of cell proliferation, differentiation, and oncogenesis concerning this neoplasm. 相似文献
55.
C Werter M el Gamal H Bonnier R Michels L Van Gelder A V Krieken 《Catheterization and cardiovascular diagnosis》1988,14(4):238-242
A new catheter was used in an attempt to re-establish coronary flow in six patients with acute occlusion after angioplasty and prior to emergency coronary artery bypass surgery. All patients suffered from severe chest pain, and the electrocardiogram showed signs of acute transmural ischemia. A reperfusion catheter manufactured by Advanced Cardiovascular Systems (ACS) has 36 side holes spirally arranged along the distal 10 cm. It is introduced over an exchange wire. After the catheter was positioned across the occlusion, five patients had complete relief of chest pain, and another patient had partial relief. The electrocardiogram normalized in all six patients (in one only initially). Two patients developed a limited myocardial infarction, but four did not. The time between introduction of the reperfusion catheter and aorta cross clamping varied between 1.5 and 6.5 hours, and there were no complications related to its use. We conclude that the ACS reperfusion catheter is useful in re-establishing coronary blood flow after failed angioplasty and prior to emergency coronary artery bypass surgery. 相似文献
56.
Concomitant administration of cyclosporine and ketoconazole in idiopathic nephrotic syndrome. 总被引:1,自引:1,他引:0
Amr El-Husseini Fathy El-Basuony Ahmed Donia Ihab Mahmoud Nabil Hassan Nagy Sayed-Ahmad Mohamed Sobh 《Nephrology, dialysis, transplantation》2004,19(9):2266-2271
BACKGROUND: The deliberate use of ketoconazole to reduce the need for cyclosporine (CsA) is not new, but it is particularly relevant because of the high cost of CsA. Many studies have documented this benefit in renal and cardiac transplants, but this co-administration has not been reported in patients with nephrotic syndrome. METHODS: This retrospective study included 207 nephrotic patients who were steroid resistant, dependent or frequent relapsers and received CsA therapy. Among these patients 153 received daily ketoconazole therapy in a dose of 50 mg with concomitant decrease of one-third of the CsA dose while 54 patients received CsA alone. The majority of our cases were children (179 were below 18 years) and male to female ratio was 1.7:1. RESULTS: The great majority of the study population received the drugs for 1-2 years. Patients who received CsA and ketoconazole were comparable with those who received CsA alone regarding age, sex, duration of renal disease, renal pathology, severity of nephrotic syndrome, renal function, hepatic function and steroid response. Co-administration of ketoconazole significantly reduced mean doses of CsA by 37% after 1 month and 47% at 1 year with overall net cost savings of 37%. Hepatic functions remained within the normal range in both groups. Additionally, co-administration of ketoconazole significantly improved the response to CsA therapy, successful steroid withdrawal and decreased the frequency of renal impairment. CONCLUSIONS: Co-administration of keto with CsA in idiopathic nephrotic patients significantly reduces CsA costs and may improve its response. 相似文献
57.
儿童髓母细胞瘤中ERBB-2的表达 总被引:2,自引:1,他引:1
目的:探讨ERBB-2在儿童髓母细胞中的表达及临床意义.方法:用免疫组织化学LSAB法检测84例获随访的儿童髓母细胞瘤中的ERBB-2表达,按术后生存期3、5、10年分为A、B、C三组.使用Cox回归统计分析.结果:84例儿童髓母细胞瘤中,ERBB-2阳性表达72例(85.71%),A、B、C三组间ERBB-2阳性表达分别为100%,88.9%,40%(P<0.01),Cox回归分析显示ERBB-2是影响生存时间的一个独立的预后因子,它与预后存在负相关关系.结论:ERBB-2表达水平可作为儿童髓母细胞瘤的预后指标之一. 相似文献
58.
T Scheye J P Descloquemant J J Lemaire T Vergote P Alaux M A Prouvost C el Mjabber G Vanneuville 《Journal de chirurgie》1987,124(6-7):375-380
Six further cases of retrocostoxiphoid hernia in children are reported, the postoperative course being uncomplicated following supraumbilical laparotomy. The relevant literature is reviewed and emphasis placed on the value of peritoneography for establishing diagnosis prior to operation. 相似文献
59.
Screening of the antiradical action of vegetable oils 总被引:2,自引:0,他引:2
Mohamed Fawzy Ramadan Joerg-Thomas Moersel 《Journal of food composition and analysis》2006,19(8):838-842
Information on radical scavenging activity (RSA) and antioxidant potential of vegetable oils are not reported, or reporting has been rather limited. Such data is of importance for the evaluation of nutritional and health impact of these oils. The main objective of this short study was to compare the antiradical performance of some common and unusual vegetable oils. The described arrangement for our simple experiment uses the addition of stable radicals 1,1-diphenyl-2-picrylhydrazyl (DPPH) to vegetable oils, which are decomposed by components having antioxidant properties. The order of effectiveness of oils in inhibiting free radicals was as follows: coriander>blackcumin>cottonseed>peanut>sunflower>walnut>hemp seed>linseed>olive>niger seed. This initial survey might serve as a springboard for future research into this area. 相似文献
60.
Khellin (CAS 82-02-0) and methoxsalen (CAS 298-81-7) were examined in male albino rats to evaluate their ability to modify serum lipoprotein cholesterol. Clinical chemistry parameters were also measured to obtain information indicative of possible drug toxicity. The drugs were evaluated in four-week double dose studies. After four weeks at 0.45 mg/100 mg b.wt. for khellin and 0.27 mg/100 g b.wt. for methoxsalen, per day, both drugs significantly lowered low density lipoprotein cholesterol, high density lipoprotein cholesterol and total cholesterol. Very low density lipoprotein cholesterol and triglycerides were not changed. No apparent toxicity was observed as clinical chemistry parameters and body weights were not different compared to control values. Similar results were observed with a lower dose of khellin (0.23 mg/100 g b.wt./d). A dose of 0.13 mg/100 g b.wt./d of methoxsalen had no observable effect in this study. Confirmation of the hypocholesterolemic activity of khellin and methoxsalen in this study enhances the therapeutic potential of these compounds against atherosclerosis. 相似文献