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111.

Purpose

The 'step-by step' principle was introduced into the European Union legislation on genetically modified organisms as a means to cope with uncertainty about environmental risks from the release of genetically modified organisms into the environment. The approval process is orientated along the stepwise reduction of containment which reflects a precautionary approach towards the risks of genetically modified organism release. Thus, the gradual reduction of containment should keep pace with the gradual generation of risk-related knowledge. This paper strives to clarify the meaning, legal status and practical importance of the principle. It also looks at whether non-European Union countries have adopted the principle as well, and how they practice it.

Methods

The article is based on research of the relevant legal texts, court cases and legal literature. In addition, a number of dossiers of applications for the European Union authorisation of release and placing on the market of genetically modified seed were analysed.

Results and conclusions

Although 'step-by-step' is not a precise legal rule it does have legal meaning as a principle guiding the risk assessment and management of genetically modified organism introduction into the environment. Assuming a process of gradual reduction of containment and scaling up of release ranging from closed systems via experimental release to cultivation the 'step-by-step principle' requires that the knowledge on environmental risks of genetically modified organisms should be generated on stages previous to the ones where the risk can result in damage. The analysis of the legislation of China, the United States of America and Brazil showed a differentiated approach towards the step-by-step principle.  相似文献   
112.

Objective

To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings of these pregnancies.

Methods

A retrospective cohort study (2017–2019) of atypical fetal genitalia in a large expert center for disorders/differences of sex development. We describe counseling aspects, invasive prenatal testing, genetic and clinical outcome of fetuses apparently without [group 1, n = 22 (38%)] or with [group 2, n = 36 (62%)] additional anomalies on US.

Results

In group 1, 86% of parents opted for GC versus 72% in group 2, and respectively 58% and 15% of these parents refrained from invasive testing. Atypical genitalia were postnatally confirmed in 91% (group 1) and 64% (group 2), indicating a high rate of false positive US diagnosis of ambiguous genitalia. Four genetic diagnoses were established in group 1 (18%) and 10 in group 2 (28%). The total genetic diagnostic yield was 24%. No terminations of pregnancy occurred in group 1.

Conclusions

For optimal care, referral for an expert fetal US scan, GC and invasive diagnostics including broad testing should be offered after prenatal detection of isolated atypical genitalia.  相似文献   
113.
Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia. We observed that some patients had presented with different prenatal or perinatal forms of edema in some kindreds. Within weeks or months after birth, these exhibited a spontaneous, complete and definitive resorption. We assumed that some DHS patients, who were born without edema before ultrasound was available, might nonetheless have exhibited this during the prenatal period. The present report follows up the first pregnancy in a woman with overt DHS, but not herself having a known history of perinatal effusions. Ultrasound revealed that the fetus displayed ascites that disappeared prior to birth. The neonate had DHS. Prenatal edema must therefore be more frequent in DHS than known until now. DHS is another cause of prenatal edema to be considered in the differential diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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This paper reviews empirical evidence on psychological detachment from work during nonwork time. Psychological detachment as a core recovery experience refers to refraining from job‐related activities and thoughts during nonwork time; it implies to mentally disengage from one's job while being away from work. Using the stressor‐detachment model as an organizing framework, we describe findings from between‐person and within‐person studies, relying on cross‐sectional, longitudinal, and daily‐diary designs. Overall, research shows that job stressors, particularly workload, predict low levels of psychological detachment. A lack of detachment in turn predicts high strain levels and poor individual well‐being (e.g., burnout and lower life satisfaction). Psychological detachment seems to be both a mediator and a moderator in the relationship between job stressors on the one hand and strain and poor well‐being on the other hand. We propose possible extensions of the stressor‐detachment model by suggesting moderator variables grounded in the transactional stress model. We further discuss avenues for future research and offer practical implications. Copyright © 2014 John Wiley & Sons, Ltd.  相似文献   
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Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees. We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre–Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogenous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
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On the basis of the embryo transfer new and developing biotechnologies including cryopreservation of embryos, sex predetermination and sex diagnosis (sexing), in vitro fertilization, cloning and production of chimaeras and of transgenic animals are discussed.  相似文献   
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