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排序方式: 共有1009条查询结果,搜索用时 11 毫秒
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Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies 总被引:3,自引:0,他引:3
M Vainzof R C Pavanello I Pavanello-Filho D Rapaport M R Passos-Bueno E E Zubrzycka-Gaarn D E Bulman M Zatz 《American journal of medical genetics》1991,39(1):38-41
Previously we estimated that about 2.5-4% of isolated male patients diagnosed as Duchenne dystrophy (DMD) may have the autosomal recessive form (AR-DMD). Such cases can be distinguished from X-linked DMD through the analysis of dystrophin. Fifty DMD patients from 47 families were investigated for dystrophin and DNA deletions. Based on our results, we estimate that the frequency of AR-DMD may be about 8-12% among male patients diagnosed as DMD in whom X-linked inheritance could not be confirmed through pedigree data, serum enzymes in female relatives or DNA studies. Such an estimate must be confirmed in a larger sample; however, it shows the importance of assessing dystrophin in all patients diagnosed as DMD in whom X-linked inheritance cannot be proved, since the distinction between these 2 forms has implications for genetic counseling. 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
6.
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
7.
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
8.
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
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M R Passos-Bueno I Richard M Vainzof F Fougerousse J Weissenbach O Broux D Cohen J Akiyama S K Marie A A Carvalho et al. 《Journal of medical genetics》1993,30(5):385-387
The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classified as LGMD2. Based on results of eight out of 11 large Brazilian LGMD families of different racial background (which were informative for the closest available probe to the LGMD2 gene), we confirmed linkage to the LGMD2 gene at 15q in two of these families and exclusion in six others. These data provide the first evidence of genetic heterogeneity for the autosomal recessive limb-girdle muscular dystrophies. 相似文献
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