Three cases of unusual chromosomal mosaicism are reported for which the cytogenetic data show inconsistent findings between CVS and AC or fetal tissue, and which cannot be explained simply by non-disjunction. For case 1, in CVS the karyotype was 46,XY, whereas lymphocytes and fibroblasts revealed 69,XXY. DNA fingerprinting indicated one paternal and two maternal chromosome sets, the latter most probably due to omission of maternal meiosis II. For case 2, in CVS mos 46,XX/47,XX,+mar de novo was observed. Amniotic fluid cells had the karyotype 46,XX. The origin of the marker chromosome might be explained by at least two events of unknown order (a somatic chromosome/chromatid deletion and non-disjunction of the homologous chromosome). In case 3 (CVS: mos 46,XY/46,XY,19q+ de novo; amniotic fluid cells, lymphocytes, and fibroblasts: 46,XY), the surplus of chromosome material in 19q+ might be explained on the basis of a somatic translocation. The idea of a chimera is less convincing, as the mosaic finding is restricted to one tissue. Furthermore, there was no hint of a vanishing twin. Hitherto, no case of structural chromosome mosaicism in CVS has been reconfirmed in fetal tissues. 相似文献
Increasingly intensive strategies to maintain biodiversity and ecosystem function are being deployed in response to global anthropogenic threats, including intentionally introducing and eradicating species via assisted migration, rewilding, biological control, invasive species eradications, and gene drives. These actions are highly contentious because of their potential for unintended consequences. We conducted a global literature review of these conservation actions to quantify how often unintended outcomes occur and to elucidate their underlying causes. To evaluate conservation outcomes, we developed a community assessment framework for systematically mapping the range of possible interaction types for 111 case studies. Applying this tool, we quantified the number of interaction types considered in each study and documented the nature and strength of intended and unintended outcomes. Intended outcomes were reported in 51% of cases, a combination of intended outcomes and unintended outcomes in 26%, and strictly unintended outcomes in 10%. Hence, unintended outcomes were reported in 36% of all cases evaluated. In evaluating overall conservations outcomes (weighing intended vs. unintended effects), some unintended effects were fairly innocuous relative to the conservation objective, whereas others resulted in serious unintended consequences in recipient communities. Studies that assessed a greater number of community interactions with the target species reported unintended outcomes more often, suggesting that unintended consequences may be underreported due to insufficient vetting. Most reported unintended outcomes arose from direct effects (68%) or simple density-mediated or indirect effects (25%) linked to the target species. Only a few documented cases arose from more complex interaction pathways (7%). Therefore, most unintended outcomes involved simple interactions that could be predicted and mitigated through more formal vetting. Our community assessment framework provides a tool for screening future conservation actions by mapping the recipient community interaction web to identify and mitigate unintended outcomes from intentional species introductions and eradications for conservation. 相似文献
Abstract Over the last few decades, the use of chemical pesticides has increased dramatically in the U.S. This relatively sudden increase greatly concerns the U.S. Environmental Protection Agency (EPA), since it has the responsibility for ensuring the safety of all pesticides used in the U.S. In response to this concern, EPA has established a review program, the Rebuttable Presumption Against Registration (RPAR), for periodically reassessing the mutagenic and carcinogenic potential of pesticide compounds. This paper presents a review and evaluation of the data reported in the literature on six chemical pesticides suspect for mutagenic potential. The pesticide chemicals discussed are maleic hydrazide; rotenone; monuron; diallate; triallate, and benomyl. 相似文献
Objective: The aim of this study was to explore whether varying levels of operational and tactical driving task demand differentially affect drivers with Parkinson's disease (PD) and control drivers in their sign recall.
Methods: Study participants aged between 50 and 70 years included a group of drivers with PD (n = 10) and a group of age- and sex-matched control drivers (n = 10). Their performance in a sign recall task was measured using a driving simulator.
Results: Drivers in the control group performed better than drivers with PD in a sign recall task, but this trend was not statistically significant (P =.43). In addition, regardless of group membership, subjects' performance differed according to varying levels of task demand. Performance in the sign recall task was more likely to drop with increasing task demand (P =.03). This difference was significant when the variation in task demand was associated with a cognitive task; that is, when drivers were required to apply the instructions from working memory.
Conclusions: Although the conclusions drawn from this study are tentative, the evidence presented here is encouraging with regard to the use of a driving simulator to examine isolated cognitive functions underlying driving performance in PD. With an understanding of its limitations, such driving simulation in combination with functional assessment batteries measuring physical, visual, and cognitive abilities could comprise one component of a multitiered system to evaluate medical fitness to drive. 相似文献
Objectives: Motor vehicle collisions (MVCs) are a significant health burden in Saudi Arabia. The literature has consistently indicated that chronic medical conditions, such as diabetes, heart disease, stroke, obstructive sleep apnea, and neurodevelopmental disorders, increase the risk of MVCs. Therefore, assessment of driver fitness by primary care physicians (PCPs) remains a major health intervention that might reduce MVCs. We studied the practices of PCPs in assessing medical fitness to drive in at-risk patients.
Methods: We conducted a cross-sectional study of all 88 government-funded primary care centers in the city of Riyadh, Saudi Arabia. We administered a self-reported questionnaire to PCPs that inquired about their driving risk assessment for specific medical conditions.
Results: Among all PCPs and centers, 189 PCPs (63%) from 74 centers (84%) participated in our survey. The mean age of the PCPs was 40 ± 10 years, and 108 (57%) were men. The average clinical experience of the group was 13 ± 9 years. Fewer than half of PCPs considered diabetes mellitus (45%) and obstructive sleep apnea (46%) as potential risks for MVCs. Approximately 45% of PCPs did not notify any authority or relatives of potential driving issues that they noticed in their patients. Only 15% of the participants believed that PCPs were responsible for alerting authorities about their fitness to drive.
Conclusions: PCPs did not adequately assess their patients' driving history and eligibility. Efforts are needed to improve awareness among PCPs regarding the effects of chronic medical conditions on driving. 相似文献