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排序方式: 共有1171条查询结果,搜索用时 15 毫秒
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Ketai LH; Williamson MR; Telepak RJ; Levy H; Koster FT; Nolte KB; Allen SE 《Radiology》1994,191(3):665
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A K Bhuiyan S Jackson D M Turnbull A Aynsley-Green J V Leonard K Bartlett 《Clinica chimica acta; international journal of clinical chemistry》1992,207(3):185-204
We describe an improved radio-enzymatic method for the measurement of carnitine, short-chain acyl-carnitine and long-chain acyl-carnitine in plasma and tissue. An internal standard, hexadecanoyl-[CH3-3H]-carnitine was synthesised and used to improve the determination of long-chain acyl-carnitine. The between and within batch precisions were 10.4 and 7%, respectively. Control data for neonates, infants, children and adults in the fed and fasted state are documented. In addition we confirm the hypocarnitinaemia associated with pregnancy. Patients with medium-chain acyl-CoA dehydrogenase deficiency were studied during episodes of hypoglycaemia. In both fasted controls and patients there were high concentrations of short-chain acyl-carnitine, however in the latter group there were also low concentrations of free carnitine. We suggest that the monitoring of plasma carnitine and its derivatives is a useful adjunct to the investigation of children suspected to suffer from inherited disorders of mitochondrial beta-oxidation. We also describe a sample preparation procedure suitable for high performance liquid chromatographic analysis of specific acyl-carnitines from urine, plasma and tissue homogenates. The recoveries of acetyl-carnitine, octanoyl-carnitine and hexadecanoyl carnitine from urine were 101.5, 95 and 91% and from plasma 99.5, 91.5 and 85.5%, respectively. Acyl-carnitines (C2-C16) were analysed as their p-bromophenacyl derivatives by reverse-phase high performance liquid chromatography using a ternary gradient of acetonitrile/water/triethylamine phosphate. We report ten patients who excreted octanoyl-carnitine, hexanoyl-carnitine and in some cases a small amount of decanoyl-carnitine. In most of these cases suberylglycine and dicarboxylic acids were also detected by GC/MS. We had access to cultured fibroblasts from five of these patients and were able to demonstrate medium-chain acyl-CoA dehydrogenase deficiency by direct enzyme assay. 相似文献
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S. van Ruth† EBL van Dorst‡ MR Canninga-van Dijk§ MS de Bruin-Weller† 《Journal of the European Academy of Dermatology and Venereology》2007,21(5):678-680
Cutaneous metastasis of vaginal carcinoma is extremely rare. So far, the total number of reported skin metastasis of vaginal carcinoma is only one. We present another case with an unusual manifestation of vagina carcinoma metastasis: skin metastasis presenting as a leg ulcer on the lower leg. 相似文献
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Localization of a gene for otosclerosis to chromosome 15q25-q26 总被引:5,自引:0,他引:5
Tomek MS; Brown MR; Mani SR; Ramesh A; Srisailapathy CR; Coucke P; Zbar RI; Bell AM; McGuirt WT; Fukushima K; Willems PJ; Van Camp G; Smith RJ 《Human molecular genetics》1998,7(2):285-290
Among white adults otosclerosis is the single most common cause of hearing
impairment. Although the genetics of this disease are controversial, the
majority of studies indicate autosomal dominant inheritance with reduced
penetrance. We studied a large multi- generational family in which
otosclerosis has been inherited in an autosomal dominant pattern. Five of16
affected persons have surgically confirmed otosclerosis; the remaining nine
have a conductive hearing loss but have not undergone corrective surgery.
To locate the disease- causing gene we completed genetic linkage analysis
using short tandem repeat polymorphisms (STRPs) distributed over the entire
genome. Multipoint linkage analysis showed that only one genomic region, on
chromosome 15q, generated a lod score >2.0. Additional STRPs were typed
in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and
D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis
gene.
相似文献
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Peritoneal fluid concentrations of interleukin-8 in women with endometriosis: relationship to stage of disease 总被引:7,自引:10,他引:7
Gazvani MR; Christmas S; Quenby S; Kirwan J; Johnson PM; Kingsland CR 《Human reproduction (Oxford, England)》1998,13(7):1957-1961
There is increasing evidence that immunological mechanisms play a role in
the pathogenesis and pathophysiology of endometriosis. It was therefore of
interest to study interleukin-8 (IL-8), a chemokine, in the peritoneal
fluid and peripheral blood of women undergoing laparoscopic procedures. The
presence and concentrations of IL-8 in relation to endometriosis,
infertility and abdominal pain were evaluated. Samples of peritoneal fluid
(n = 49) and peripheral blood (n = 50) were obtained from 50 consecutive
patients undergoing laparoscopic surgery for various gynaecological
indications (abdominal pain, infertility, sterilization). IL-8 was present
in the peritoneal fluid of most women (87%). The concentration of IL-8 in
the peritoneal fluid was higher in women with endometriosis compared to
women without (P = 0.02). This difference was more pronounced in early
(stage 1) endometriosis (P = 0.001). IL-8 concentrations in the peritoneal
fluid were also higher in women with early endometriosis compared to women
with later stages of the disease (P = 0.003). Peripheral blood
concentrations did not correlate with peritoneal fluid concentrations of
IL-8 and/or the presence of endometriosis. We conclude that IL-8 is an
important factor that may contribute to the pathogenesis of endometriosis
possibly by promoting neovascularization. This information can be a guide
in the development of new therapeutic approaches for the treatment of
endometriosis.
相似文献