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11.
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
12.
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
13.
14.
The palpation and enucleation of occult insulinomas (less than 15 mm) can be a difficult surgical problem even with good arteriographic localization. In the authors' limited experience, confirmation of arteriographic findings by pancreatic venous sampling provided little additional localizing information. However, if arteriography is negative or equivocal, venous sampling can indicate the segment of pancreas to be "blindly" resected if the adenoma is not palpable. Venous sampling may be misleading in polyendocrine syndromes because of the frequency of multiple adenomas and variable hormone production. 相似文献
15.
16.
0 引言 1 992 - 0 5~ 1 999- 0 5我科收治慢性硬膜下血肿 (CS-DH) 1 6 8例 ,其中 1 6 4例经颅骨钻孔冲洗引流术治疗 ,4例保守治疗 ,结果 1 6 5例治愈 ,3例死亡 .结论 :CSDH的诊断主要依靠 CT检查 ,手术简单 ,防止并发症可改善预后 .1 临床资料 男 1 6 3例 ,女 5例 ,年龄 32~ 79岁 ,平均 5 4岁 .有明确的外伤史 1 4 5例 (86 .3% ) ,原因不明 2 3例(1 3.7% ) ,病程 3wk~ 6 a.头昏、头痛、呕吐 1 1 6例 ,肢体运动障碍 6 8例 ,智力及精神障碍 46例 ,语言障碍 1 0例 ,感觉障碍2 1例 ,排尿障碍 5例 ,癫痫 3例 ,视乳头水肿 92例 ,锥体… 相似文献
17.
18.
Mary B. Short Marina Catallozzi Carmen Radecki Breitkopf Beth A. Auslander Susan L. Rosenthal 《Journal of pediatric and adolescent gynecology》2013,26(1):3-6
During adolescence, individuals develop increased ability to have emotionally and physically intimate relationships. The type of intimate relationship will make a difference as to whether the adolescent engages in protective behaviors or avoids risky behaviors. However, in reviewing the literature on the association of relationship type and sexual risk and protective behaviors, four methodological challenges were noted. These challenges limit our understanding of the impact of relationship type. These four challenges are: (a) inconsistent definitional frameworks; (b) lack of adolescent voices; (c) lack of consideration of gender; and (d) poor differentiation between individual and relationship risk. These issues direct the course of future work in this area and are necessary to advance the field of adolescent sexual health, particularly with regard to the development and testing of appropriate interventions designed to reduce untoward outcomes of adolescent sexuality. 相似文献
19.
Home therapy with porcine factor VIIIC was safe and effective when administered to five hemophilic patients over periods of 8 1/2, 6, 4, 3 1/2, and 2 years. No significant transfusion reactions occurred. Before treatment with porcine factor VIIIC, all five had high-level, high- responding anti-human VIIIC inhibitors initially lacking anti-porcine factor VIIIC activity. Although specific anti-porcine VIIIC inhibitors arose in all patients, these were generally transient, and only one patient became refractory to treatment. We believe that porcine factor VIIIC is the treatment of choice in patients whose inhibitors do not cross-react. All five patients lost their original anti-human VIIIC inhibitors after starting treatment with porcine VIIIC, permitting the reintroduction of human VIIIC in three of them. There has been no recurrence of anti-human VIIIC inhibitor activity during 2 to 3 years of regular treatment with human VIIIC in these patients. This suggests that tolerance to human VIIIC has arisen as a result of treatment with porcine VIIIC. Porcine VIIIC may have a role in the desensitization of some factor VIIIC inhibitor patients. 相似文献
20.
Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype 总被引:1,自引:0,他引:1
Graham JB; Rizza CR; Chediak J; Mannucci PM; Briet E; Ljung R; Kasper CK; Essien EM; Green PP 《Blood》1986,67(6):1554-1559
Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analysis of the collated data from 336 carriers (296 obligatory carriers and 40 sporadic carriers) and 137 normal women showed that there was no difference in the F.VIII:C levels of "paternal" carriers (women who had obtained the abnormal gene from their fathers) and "maternal" carriers. Neither was there a difference in the VWF:Ag levels of normal women and either type of carrier. Age was found to have a significant effect on both F.VIII:C and VWF:Ag, values being higher at very young and very old ages, the minima occurring in the 25- to 30-year range. ABO blood type had a striking effect. Women of types A, B, and AB (designated non- O in the study), both normals and carriers, had significantly higher levels of both factors than did women of type O. Analysis by laboratories showed that differences in mean levels of both factors between laboratories were highly significant. It was concluded that age, ABO blood type, and laboratory variation should be taken into account in carrier detection. 相似文献