Surgical trauma and vein graft failure: further evidence for a role of ET-1 in graft occlusion

The saphenous vein (SV) is the most commonly used conduit for coronary artery bypass surgery. However, using traditional techniques, the occlusion rate for the SV is high, with over 50% of grafts failing within 10 years. In conventional coronary artery bypass surgery the SV is exposed to considerable damage during preparation for grafting. Recently, an increased graft patency has been described using a 'no-touch' technique, whereby the vein is prepared with minimal vascular trauma. There is evidence that the success of this form of coronary artery bypass surgery is a result, at least in part, of the retention of tissue-derived nitric oxide. We have examined the effects of conventional SV harvesting on vessel morphology, cell proliferation, endothelin-1 and its receptors. Considerable damage was observed in veins prepared using conventional surgery compared to 'no-touch' veins. The vessel wall exhibited evidence of surgical trauma, with regions of denudation of the luminal endothelium caused by distension. Endothelin-1 and endothelin-A receptors were present at subintimal regions of conventional SV segments where proliferating cells were identified. Endothelial endothelin-B receptors were also revealed that were absent at areas of distension-induced damage to the endothelium. These results suggest that endothelin-1 plays a role in vein graft failure, predominantly via the endothelin-A receptor.     

Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X

The effects of a fragile X disorder on executive function impairment were assessed in 144 extended families, which included individuals with fragile X premutation and full mutation and their relatives without fragile X. A modification of the maximum-likelihood estimators for pedigree data, as well as ordinal logistic regression, were used in data analysis. The most outstanding deficit, occurring especially in males, involved impaired capacity to use an intention to regulate purposeful behavior. This deficit occurred independently of general cognitive impairment but was related to depletion of fragile X mental retardation 1 gene protein product. The other executive function deficits were accounted for by the general cognitive impairment. Possible mechanisms of the effect of fragile X premutation on impairments of executive functioning are considered.     

A comparison of the health-promoting life-style profile of ovarian-cancer patients and healthy women

Ovarian cancer is a lethal malignancy, rarely diagnosed early, and there is currently little, if any, preventive strategies which can be followed. This study attempts to identify lifestyle profiles which might be associated with ovarian cancer, and could then be subject to subsequent modification in an effort to prevent or decrease the incidence of this disease. The Health Promoting Lifestyle Profile (HPLP) questionnaire which is a multidimensional measure of lifestyle was administered to a 'well population' and to patients with the known and confirmed diagnosis of ovarian cancer. HPLP is a multidimensional measure of lifestyle which looks at self-actualization, health responsibility, exercise, nutrition, interpersonal support and stress management. It provides an objective lifestyle profile of individuals and groups of individuals. A t-test for independent samples was performed using the SPSSX statistical program. The separate variance t-test was used. The t-values of self-actualization, interpersonal support, health responsibility and exercise factors were significant at the 0.05 level. Patients diagnosed with ovarian cancer had significantly lower scores compared to those of healthy women. The t-value of the nutrition and stress management scores were not significantly different. This retrospective study strongly suggests that there is a lower score on the HPLP questionnaire for self-actualization, health promotion and lifestyle, interpersonal support, exercise and health responsibility for patients with ovarian cancer, as compared to healthy controls. There is no relationship between the subscores of nutrition and stress management, and the development of ovarian cancer. This would suggest there is a relationship between lifestyle and the development of ovarian cancer.     

Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy.

We present a fragile X family with unusual clinical manifestations. These findings, which often occur in the X-linked FG syndrome, include minor limb anomalies, cleft lip and palate, characteristic facial appearance, gastrointestinal problems and epilepsy, and intellectual disability. In a total sample of 54 fra(X) families, the frequency of minor limb anomalies was estimated to be 32% in the affected males and 19% in the female heterozygotes. These anomalies tend to occur in several members of the same family, where some craniofacial abnormalities reported as characteristic of the FG syndrome have also been encountered. Possible mechanisms for the occurrence of these unusual manifestations in the fra(X) families are discussed.     

Dermatoglyphic total patterns on palms, finger-tips and soles in twins

110 palms of MZ twins and 111 like-sexed pairs of DZ twins have been compared in respect of a concordance rate of the palmar, sole and finger-tip total pattern types. Dermatoglyphic patterns have been classified according to the topological method, and the distributions of the numbers of discordant pattern elements from homolateral, heterolateral and bilateral comparisons in MZ and DZ twins, respectively, are presented. The highest concordance occurs in homolateral comparisons in MZ twins and the lowest in heterolateral comparisons. Bilateral concordance is highest for sole and finger-patterns, while palmar patterns present a considerable degree of dermatoglyphic asymmetry. Palmar, sole and finger-tip patterns are also not alike in homolateral concordance rates within MZ and DZ twin pairs. The differences between MZ and DZ twins are much more pronounced for sole patterns than for palmar or finger-tip patterns, which is also reflected in the estimated H values. For soles, this may be in some way related to the considerable symmetry of patterns. The fact that some pattern elements are intercorrelated may also introduce a bias in estimates of heritability, based on twin material.     

Application of robust pedigree analysis in studies of complex genotype–phenotype relationships in fragile X syndrome

Relationships between the fragile X dynamic mutation and palmar and finger epidermal ridge measures were assessed using a robust modification of the maximum likelihood estimators for pedigree data. A total of 34 extended families affected with fragile X syndrome were used. Phenotypic traits included ridge count on the thumb and ridge breadth measured in the second palmar interdigital area bilaterally. Genotypic measures were represented by the number of CGG repeats in the FMR1 gene, the levels of specific FMR1 protein (FMRP), fragile X category defined by the size of the CCG repeat, and methylation status of the gene. The results demonstrated a significant fragile X effect (related to the number of CGG repeats) in the thumb ridge count in males. This effect was more evident in ridge breadth and was found in both sexes. However, the relationship between both phenotypic traits and the level of FMRP was nonsignificant. The study makes a useful contribution to the development of methodologies for the analysis of genotype–phenotype relationships in dynamic mutations, especially in overcoming extensive variability in both the genotype and phenotype, and in approaching the statistical problems related to intergenerational changes in repeat size. The findings support the hypothesis that the fragile X mutation affects limb development during an early fetal period. © 2001 Wiley‐Liss, Inc.     

Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome.

Relationships between the fragile X dynamic mutation and palmar and finger epidermal ridge measures were assessed using a robust modification of the maximum likelihood estimators for pedigree data. A total of 34 extended families affected with fragile X syndrome were used. Phenotypic traits included ridge count on the thumb and ridge breadth measured in the second palmar interdigital area bilaterally. Genotypic measures were represented by the number of CGG repeats in the FMR1 gene, the levels of specific FMR1 protein (FMRP), fragile X category defined by the size of the CCG repeat, and methylation status of the gene. The results demonstrated a significant fragile X effect (related to the number of CGG repeats) in the thumb ridge count in males. This effect was more evident in ridge breadth and was found in both sexes. However, the relationship between both phenotypic traits and the level of FMRP was nonsignificant. The study makes a useful contribution to the development of methodologies for the analysis of genotype-phenotype relationships in dynamic mutations, especially in overcoming extensive variability in both the genotype and phenotype, and in approaching the statistical problems related to intergenerational changes in repeat size. The findings support the hypothesis that the fragile X mutation affects limb development during an early fetal period.     

Clinical features and reproductive patterns in fragile X female heterozygotes.

Clinical findings are presented on 113 fragile X female heterozygotes from 44 families, based on physical examination, behavioural assessment, and reproductive history. In 85% of a subsample of 92 adult females non-verbal IQ score derived from the Block Design test was 85 or less. Verbal ability deficits were much less common. Typical facial characteristics, irregular teeth, and hypermobility of finger joints occurred in approximately 40% of adult females, but facial abnormalities were less common in children. Some physical anomalies and the level of intellectual impairment were, in adult carriers, associated with the presence of fragile X sites. The commoner physical anomalies or typical facial characteristics and intellectual abilities differed significantly between the known female heterozygotes and their 40 presumed normal relatives. Frequency of miscarriages was increased in fragile X females; in spite of this, a moderate increase in the number of children has been encountered in female carriers with borderline intellectual impairment. This important problem has genetical implications and needs further investigation. The importance is emphasised of a more detailed clinical examination of the females at risk in fragile X families.     

血清反复冻融对HBsAg和抗HBs抗体检测的影响

0　引言　 EL ISA技术已在乙肝标志物的检测中已普遍应用 ,一般认为收集的血清应及时检测 .而在基层单位或在流行病学调查研究中 ,由于血标本收集不集中 ,或者有些标本常需检测多个指标而持续时间较长 ,因此 ,血清必须低温贮存一定时间或反复冻融后检测 ,而血清冻融对 EL ISA检测结果是否有影响尚不清楚 .为此 ,我们对 183份血清标本冻融前、冻融 3次、冻融 6次后的 HBs Ag和抗 - HBs进行了检测和分析比较 .1　材料和方法1.1　材料　 1999- 0 5收集西京医院门诊乙肝 5项检测血清183份 ,年龄、性别、诊断不限 .1.2　方法　于初次检测 …     

Experience with direct molecular diagnosis of fragile X.

The utility of the pfxa3 probe for direct molecular diagnosis of the fragile X (FRAXA) has been established. This probe detects amplification of an unstable DNA element consisting of variable length CCG repeats. The size of the amplified fragment is correlated with phenotype and was determined using PstI digested DNA in family members. In 35 families with the fragile X, there was correspondence in 183 cases between the presence of an amplified unstable element and the presence of the fragile X chromosome independently determined by cytogenetics, position in the pedigree, or linked DNA markers flanking the fragile X. There was also correspondence in 124 cases between the presence of the normal 1.0 kb PstI fragment and absence of the fragile X chromosome independently determined by linked flanking markers. Six additional families considered to be isolated cases of 'fragile X' had been diagnosed before recognition of FRAXD. The pfxa3 probe confirmed the cytogenetic diagnosis in three families, the other three being rediagnosed as non-fragile X. A further two families had consistent expression of a different folate sensitive fragile site, FRAXE, close to FRAXA but not associated with fragile X syndrome and not detectable with the pfxa3 probe. Subsequent referrals were received from additional family members or from members of new families for whom carrier status had not been predetermined by linked markers. Direct pfxa3 diagnosis for the 135 females within these 222 additional cases was confirmed by dosage analysis with the control probe pS8.(ABSTRACT TRUNCATED AT 250 WORDS)