The aim of the present study was to investigate the nature and prevalence of nonspecific somatic symptoms, pain and catastrophizing in children with Heritable Connective Tissue Disorders (HCTD), and to determine their association with disability. This observational, multicenter study included 127 children, aged 4–18 years, with Marfan syndrome (MFS) (59%), Loeys-Dietz syndrome (LDS) (8%), Ehlers-Danlos syndromes (EDS) (12%) and hypermobile Ehlers-Danlos syndrome (hEDS) (23%). The assessments included the Children's Somatization Inventory or parent proxy (CSI, PCSI), pain visual-analogue scale (VAS), SUPERKIDZ body diagram, Pain Catastrophizing Scale Child or parent proxy (PCS-C, PCS-P) and Childhood Health Assessment Questionnaire (CHAQ-30). Data from children aged ≥8 years were compared to normative data. In children ≥ 8 years (n = 90), pain was present in 59%, with a median of 4 (IQR = 3–9) pain areas. Compared to normative data, the HCTD group reported significantly higher on the CSI (p ≤ 0.001, d = 0.85), VAS pain intensity (p ≤ 0.001, d = 1.22) and CHAQ-30 (p ≤ 0.001, d = 1.16) and lower on the PCS-C (p = 0.017, d = −0.82) and PCS-P (p ≤ 0.001, d = −0.49). The intensity of nonspecific somatic symptoms and pain explained 45% of the variance in disability (r2 = 0.45 F(2,48) = 19.70, p ≤ 0.001). In children ≤ 7 years (n = 37), pain was present in 35% with a median of 5(IQR = 1–13) pain areas. The mean(SD) VAS scores for pain intensity was 1.5(2.9). Functional disability was moderately correlated to the number of pain areas (r = 0.56, p ≤ 0.001), intensity of nonspecific somatic symptoms (r = 0.63, p ≤ 0.001) and pain (r = 0.83, p ≤ 0.001). In conclusion, this study supports the need for comprehensive assessment of nonspecific somatic symptoms, pain, and disability in children with HCTD to allow tailored treatment. 相似文献
To test the hypothesis that the etiology of individual differences in reading performance differs in males and females, reading performance data from twin pairs tested in the Colorado Learning Disabilities Research Center were fitted to structural equation models of sex limitation. The sample included 513 pairs of twins in which at least one member of each pair has a positive school history of reading problems [228 monozygotic (MZ), 176 same-sex dizygotic (DZ), and 109 opposite-sex DZ pairs] and 302 matched control pairs [148 MZ, 98 same-sex DZ, and 56 opposite-sex DZ pairs]. Estimates of the genetic correlation between performance in males and females were obtained by analysis of data from both same-sex and opposite-sex twin pairs (Neale and Cardon, 1992). The full model fit the data well 2=17,74, df=16,p=0.340), and the resulting genetic parameter estimates were highly similar in males and females in both the proband and the control samples. The correlations between genetic influences in males and females do not differ among groups (change in 2=0.95, df=1,p0.25), and the resulting pooled estimate is about .5. Thus, results of this analysis suggest that the etiology of individual differences in reading performance may differ to some extent in males and females. 相似文献
Summary The recognition of recurring sites of chromosome changes in malignancies has greatly facilitated the identification of genes implicated in the pathogenesis of human cancers. Based especially upon recent studies [1–4], it appears increasingly likely that a subset of recurring chromosome alterations will be recognized in human breast cancer. Currently recognized chromosome changes characterizing breast carcinoma include the recognition of cytologic features of gene amplification (e.g. double minutes [dmins] and homogeneously staining regions [HSRs]) [5–8]. As these and other chromosome regions are implicated in recurring abnormalities in breast cancer, it will become increasingly important to have band-or region-specific genomic libraries and probes in order to facilitate high resolution physical mapping and ultimately to clone breast cancer related genes [9]. Toward this end an important recent development in physical mapping has been the establishment of chromosome microdissection as a rapid and reproducible approach to rapidly isolate and characterize chromosome region-specific DNA, greatly facilitating the initial steps in positional cloning of disease-related genes [10–13]. In this brief report, we will highlight the application of chromosome microdissection to the generation of region-specific probes for both fluorescent in situ hybridization (FISH) and the generation of genomic microclone libraries. Additionally, efforts using this methodology to generate a microclone library encompassing the early onset breast/ovarian cancer (BRCA1) gene will be presented.Presented by Jeffrey M. Trent at the 16th Annual San Antonio Breast Cancer Symposium, San Antonio TX, USA, November 4, 1993; Minisymposium on Molecular Genetics in Breast Cancer. 相似文献
INTRODUCTION: The purpose of this pilot study was to determine whether flight crew personnel are physically fit in comparison to published standards for the average American adult. SETTING: The study group consisted of pilots, paramedics and nurses in two similarly configured and geographically located rotor-wing air medical transport programs. METHODS: A physical fitness assessment of flight crew members was conducted. The results were compared with published standards for average adult males and females (AVG). Percentage of fat in body composition (FM%), aerobic fitness (VO2MAX), muscular endurance (ME), muscular strength (MS) and flexibility (FL) measurements were obtained using accepted testing methods. RESULTS: The study population consisted of 29 male and 21 female individuals. The following were their mean scores. Males averaged: pFAT = 19% (AVG = 20.0%); VO2MAX = 41.0 (AVG = 42.5); ME = 37.0 (AVG = 28.5); MS = 125.0 (AVG = 86.5); FL = 5.2 (AVG = 1.4); Females averaged: pFAT = 28.0% (AVG = 26.5%); VO2MAX (AVG = 34.0); ME = 27.0 (AVG = 21.0); MS = 83.0 (AVG = 76.5); FL = 4.5 (AVG = 3.4). CONCLUSION: These baseline data suggest the study population of air medical flight crew was physically fit compared to the average American adult. 相似文献
The present paper describes a laboratory experiment in which raters evaluated the videotaped performance of ratees who did or did not have a disability. This disability was stereotypically either a poor fit with the job in question or not. The results indicated that actual appraisals were not influenced by stereotypes about fit or by disabilities, but that expectations concerning future performance and a number of other decisions and recommendations were influenced by this perceived fit. These results suggest that people do hold clear stereotypes about what types of disabilities lead to poor performance on a given job, and that these stereotypes are relied upon for certain personnel decisions, even in light of performance evidence that suggests that these stereotypes are invalid. Employees' disabilities may not influence supervisors' evaluations of their past performance when supervisors have clear objective performance information available. However, bias still exists in expectations for future performance and training recommendations. This bias can have severe long-term consequences on one's career within an organization. The scenario is worse when one's disability is stereotypically believed to be unsuitable to the job in question.相似文献
Purpose: To examine the levels of parental communication and differential conversational styles with adolescents who are disabled and their healthy siblings, to better understand why the adolescent who is disabled has a higher risk of psychosocial problems during the transition into adulthood.
Methods: Families who had a disabled adolescent and at least one other adolescent who was not disabled were videorecorded during dinner at home. Twenty adolescents (12 girls and 8 boys) and their families participated. Analyses were conducted on the 392 interactions.
Results: Not only did the healthy adolescents participate in family interactions at higher frequencies than the adolescents who were disabled F(1, 383) = 14.00, p < .001, but the interactions were also more meaningful with healthy adolescents, F(2, 383) = 5.25, p < .01. Furthermore, healthy siblings had significantly greater conversational control than did their siblings with disabilities, χ2 [1] = 14.36, p < .001. Parents responded more negatively when adolescents who were disabled initiated a topic in comparison with their response to the healthy siblings, F(2, 69) = 5.44, p < .01. Finally, adolescents with disabilities were ignored more often than their healthy siblings, z = −3.75, p < .001, and they did not monopolize the conversation as often as did their healthy siblings, z = −3.91, p < .001.
Conclusion: These results suggest that adolescents who are disabled may be at a disadvantage when engaged in family interactions in contrast with their healthy siblings. 相似文献
The current study was designed to evaluate the sexual knowledge, experience, feelings and needs of people with intellectual disability or physical disability, and compare them to people from the general population. Sixty people with mild intellectual disability (28 males, 32 females, mean age=27.62 years), 60 people with physical disability (33 males, 27 females, mean age=28.65 years) and 100 people from the general population (40 males, 60 females, mean age=30.10 years) participated in the study. Each respondent completed the Sexual Knowledge, Experience and Needs Scale (SexKen). This scale assesses levels of knowledge, experience, feelings and needs in 12 different areas of sexuality. The results demonstrated that people with intellectual disability experienced lower levels of sexual knowledge and experience, more negative attitudes to sex and stronger sexual needs than people with physical disability, in all areas of sexuality. People with physical disability demonstrated these same trends when they were compared to people from the general population. An interpretation of these results as they relate to the sexuality of people with intellectual or physical disability is provided.相似文献