Lack of linkage between chromosome 5q23–33 markers and IgE/bronchial hyperreactivity in 67 Scottish families

BACKGROUND: Raised serum immunoglobulin E (IgE) and bronchial hyperreactivity (BHR) are risk factors for the expression of the asthma phenotype. Previous studies have reported evidence for linkage between these traits and markers on the 5q23-33 cytokine gene cluster. OBJECTIVE: To test for linkage between total serum IgE/BHR and microsatellite markers which map to the 5q23-33 region in an ethnically distinct cohort of families from Aberdeen, Scotland. METHODS: We performed a linkage study between five polymorphic markers (spanning the chromosome 5q23-33 region) and total serum IgE and BHR traits. A cohort of 67 families, who were recruited originally to study the natural history of wheeze, were clinically characterized and genotyped for D5S404, IL4, IRF-1, IL9, D5S436 markers. Linkage analyses were performed using the nonparametric Haseman-Elston algorithm for the quantitative trait log IgE, and the nonparametric LOD score (NPL-score) of the GENEHUNTER package for the qualitative traits serum IgE and BHR. RESULTS: The results of the nonparametric linkage analysis using either the Haseman-Elston algorithm or NPL-score were consistent and showed no evidence for linkage with IgE. There was also no evidence for linkage between the BHR traits (at cut-off values of PD20FEV1 < 8 mmol and 16 mmol) and any of the tested five microsatellite markers. CONCLUSIONS: This study presents evidence against the presence of a gene with a major effect on total serum IgE or BHR in the 5q23-33 region, in this ethnic group.     

产前超声软标志筛查胎儿染色体异常的临床价值

染色体病多数无法治疗,给家庭及社会带来负担,所以产前诊断意义重大。产前诊断染色体异常的常用方法有血清筛查、超声检查、核型分析,前两种是非侵入性检查,核型分析是侵入性检查,侵入性产前诊断技术有一定的并发症,只能面向高危孕妇,由于80%的染色体异常儿是由35岁以下的孕妇生育的,因此非侵入性的筛查方法日益普及。     

New observations on meniscal cysts

Objective  

The purpose of this study was to determine the incidence of meniscal cysts, assess the frequency of various magnetic resonance (MR) imaging characteristics, and emphasize radiographic observations not commonly reported.     

鼻腔鼻窦恶性黑色素瘤17例临床分析

目的探讨鼻腔鼻窦恶性黑色素瘤的诊断和治疗,提高本病的诊疗水平。方法回顾性分析1980年3月-2011年6月收治的17例鼻腔鼻窦恶性黑色素瘤的临床资料,分析其临床病理特点、诊断、治疗及预后。结果患者的主要症状为单侧鼻塞,涕中带血,头痛;病灶位于鼻腔外侧壁和鼻中隔。17例患者中1例放弃治疗,2例行单纯放疗,14例行手术治疗,3、5年生存率分别为36．4％和22．2％。患者死亡原因为局部复发和远处转移。结论鼻腔鼻窦恶性黑色素瘤恶性程度高,易复发和转移,预后差,临床上尽早确诊。广泛彻底手术切除肿瘤,并辅以放疗、化疗、免疫治疗等综合治疗,是提高本病生存率的关键。     

Nonstarch polysaccharide consumption in four Scandinavian populations

Nonstarch polysaccharide (NSP) intake was measured in representative samples of 30 men aged 50–59 in 2 urban and 2 rural Scandinavian populations that exhibited a 3–4 fold difference in incidence of large bowel cancer. Intake was measured by chemical analysis of complete duplicate portions of all food eaten over one day by each individual. NSP intakes showed a rural ‐ urban gradient, with 18.4 ± 7.8 g/day in rural Finland and 18.0 ± 6.4 g/day in rural Denmark versus 14.5 ± 5.4 g/day in urban Finland and 13.2 ±4.8g/day in urban Denmark.

NSP intakes were also calculated (using food tables) from weighed food records kept over 4 days, one of which was the day on which the duplicate collection was made. Intakes were 2–2.5 g/day higher with this method than with direct chemical analysis, mainly because published tables of values have become outdated and inaccurate as a result of improved methods for measuring NSP in food. Individual variation from day to day in NSP intake was considerable.

Average NSP intake and intake of some of its component sugars were inversely refated to colon cancer incidence in this geographical comparison. To show a relationship at the individual level between diet and cancer risk in a prospective study would require detailed and accurate methods for the assessment of NSP consumption.