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501.
Neutrophil Fc gamma RIIIb deficiency, nature, and clinical consequences: a study of 21 individuals from 14 families 总被引:3,自引:0,他引:3
Several individuals have been described whose neutrophils lack the normally abundantly expressed IgG Fc gamma receptor IIIb (Fc gamma RIIIb). We now studied the responsible genomic defect and analyzed the medical history in detail of 21 Fc gamma RIIIb-negative donors identified in 14 unrelated families. We developed a polymerase chain reaction allele-specific-primer annealing assay to genotype for the NA polymorphism of the Fc gamma RIIIB gene. All Fc gamma RIIIb-deficient individuals were negative for both the NA1 and the NA2 allele. In all cases the complete absence of the Fc gamma RIIIB alleles was confirmed using a Southern blot-based restriction fragment length polymorphism assay. Furthermore, an additional deletion of the next more telomeric located Fc gamma RIIC gene was found. Family studies showed that at least one Fc gamma RIIIB allele was absent in both parents in 6 families, whereas in 2 families the father had a normal phenotype. Two individuals suffered from an autoimmune thyroiditis. Four individuals had had multiple episodes of infection, 3 had only incidental infections, and 14 never had any serious infection. Genotyping showed a normal Fc gamma RIIa phenotype distribution among the Fc gamma RIIIb- negative individuals, thus excluding the possibility that the presence of the favorable IgG2-binding low-responder isoform of Fc gamma RIIa (131-H) contributed to the overall absence of recurrent bacterial infections. 相似文献
502.
503.
BW Brewer NS Diehl AE Cornelius MD Joshua JL Van Raalte 《Journal of Science and Medicine in Sport》2004,7(1):47-55
This study examined relations among body mass index (BMI), social physique anxiety (SPA) and protective self-presentational exercise behaviours in a sample of 86 female participants in aerobics classes at a university fitness centre. Participants completed a questionnaire assessing demographic and exercise-related information, the 9-item version of the Social Physique Anxiety Scale, and measures of two forms of protective self-presentational exercise behaviour (i.e., preferring to stand away from the aerobics instructor and wearing concealing exercise attire). Consistent with previous research, SPA was positively associated with both preferred exercise studio floor position (r = .31, p < .05) and clothing concealingness (r = .25, p < .05). SPA did not mediate the relations between BMI and either of the two protective self-presentational behaviours. BMI was a better predictor of clothing concealingness than SPA, but the opposite was found for exercise studio floor position preferences (r = .31 with SPA versus r = .15 with BMI). The findings provide an enhanced understanding of factors associated with self-presentation in exercise. 相似文献
504.
Nobbenhuis MA Bancroft E Moskovic E Lennard F Pharoah P Jacobs I Ward A Barton DP Ind TE Shepherd JH Bridges JE Gore M Haracopos C Shanley S Ardern-Jones A Thomas S Eeles R 《Hereditary cancer in clinical practice》2011,9(1):11-6
Background
We assessed ovarian cancer screening outcomes in women with a positive family history of ovarian cancer divided into a low-, moderate- or high-risk group for development of ovarian cancer.Methods
545 women with a positive family history of ovarian cancer referred to the Ovarian Screening Service at the Royal Marsden Hospital, London from January 2000- December 2008 were included. They were stratified into three risk-groups according to family history (high-, moderate- and low-risk) of developing ovarian cancer and offered annual serum CA 125 and transvaginal ultrasound screening. The high-risk group was offered genetic testing.Results
The median age at entry was 44 years. The number of women in the high, moderate and low-risk groups was 397, 112, and 36, respectively. During 2266 women years of follow-up two ovarian cancer cases were found: one advanced stage at her fourth annual screening, and one early stage at prophylactic bilateral salpingo-oophorectomy (BSO). Prophylactic BSO was performed in 138 women (25.3%). Forty-three women had an abnormal CA125, resulting in 59 repeat tests. The re-call rate in the high, moderate and low-risk group was 14%, 3% and 6%. Equivocal transvaginal ultrasound results required 108 recalls in 71 women. The re-call rate in the high, moderate, and low-risk group was 25%, 6% and 17%.Conclusion
No early stage ovarian cancer was picked up at annual screening and a significant number of re-calls for repeat screening tests was identified. 相似文献505.
Litvack F; Grundfest WS; Adler L; Hickey AE; Segalowitz J; Hestrin LB; Mohr FW; Goldenberg T; Laudenslager JS; Forrester JS 《Radiology》1989,172(2):331-335
Percutaneous peripheral excimer-laser angioplasty at 308 nm was used for treatment of 30 patients with peripheral vascular disease. Twenty-eight patients underwent laser-assisted balloon angioplasty, and two patients underwent laser angioplasty alone. Acute angiographic and clinical success was achieved in 24 of 31 (77%) femoropopliteal stenoses and occlusions. Seven of nine (78%) stenoses, six of seven (86%) short (0-5 cm) occlusions, seven of eight (88%) medium-length (6-10 cm) occlusions, three of four (75%) long (11-15 cm) occlusions, and one of three (33%) extreme (greater than 15 cm) occlusions were successfully treated. Inability to treat total occlusions was in each case related to a failure to maintain coaxial position and subintimal passage of the fiber. These cases demonstrate the feasibility of safely performing percutaneous peripheral excimer-laser or excimer-laser-assisted angioplasty. The overall frequency of restenosis after a mean follow-up period of 9.1 months was 29%. The data suggest that these procedures may be useful for the treatment of peripheral vascular disease in selected patients. 相似文献
506.
The rare alpha-thalassemia-1 of blacks is a zeta alpha-thalassemia-1 associated with deletion of all alpha- and zeta-globin genes 总被引:7,自引:0,他引:7
Restriction endonuclease mapping with alpha and zeta-globin gene probes showed differences between the alpha-thalassemia-1 (alpha-thal-1) condition in two patients with HbH disease. One patient had the rare black type of alpha-thal-1 together with alpha-thal-2 and HbS heterozygosities. The second patient was a Laotian child with HbE, Hb Constant Spring (alpha-thal-2), and alpha-thal-1 heterozygosities. The diagnoses were based on clinical, hematologic, and biochemical data. Whereas DNA fragments hybridizing to a zeta-probe were obtained from the Laotian type of alpha-thal-1, neither alpha nor zeta-gene fragments could be identified deriving from the black type of alpha-thal-1. Therefore, the black type of alpha-thal-1 is associated with a deletion of the entire zeta 2-psi zeta-psi alpha-alpha 2-alpha 1 gene complex and can be considered a zeta alpha-thal-1. It is likely that homozygosity for such a condition will lead to embryonic wastage, explaining the absence of hydrops fetalis in blacks. 相似文献
507.
Normal standards for kidney length in premature infants: determination with US. Work in progress 总被引:1,自引:0,他引:1
In 52 healthy premature infants, 104 kidneys were sonographically examined and kidney length was measured. Kidney length was compared with four parameters: body weight, body length, body surface area, and gestational age. Scatter plots of these data demonstrated that kidney length versus body weight conformed well to a linear distribution with a high correlation coefficient. A nomogram for kidney length versus body weight in premature infants is also presented. 相似文献