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- Cuttini, Marina, et al.
(författare)
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Patient refusal of emergency cesarean delivery - A study of obstetricians' attitudes in Europe
- 2006
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Ingår i: Obstetrics and Gynecology. - 1873-233X. ; 108:5, s. 1121-1129
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To compare the attitudes of a large sample of obstetricians from eight European countries toward a competent woman's refusal to consent to an emergency cesarean delivery for acute fetal distress. METHODS: Obstetricians' attitudes in response to a hypothetical clinical case were surveyed through an anonymous, self-administered questionnaire. The sample included 1,530 obstetricians (response rate 77%) from 105 maternity units (response rate 70%) in eight countries: France, Germany, Italy, Luxembourg, Netherlands, Spain, Sweden and the United Kingdom. RESULTS: In every country, the majority of obstetricians would keep trying to persuade the woman, telling her that failure to perform cesarean delivery might result in the fetus surviving with disability, or even that her own life might be endangered. In Spain, France, Italy, and, to a lesser extent, Germany and Luxembourg, a consistent proportion of physicians would seek a court order to protect fetal welfare or avoid possible legal liability or both. In the United Kingdom, Sweden, and Netherlands, several respondents (59%, 41%, and 37%, respectively) would accept the woman's decision and assist vaginal delivery. Only a small minority (from 0 in the United Kingdom to 10% in France) would proceed with cesarean delivery without a court order. CONCLUSION: Case law arising from a few countries (United States, Canada, and the United Kingdom) and professional guidelines favoring women's autonomy have not solved the underlying ethical conflict, and in Europe acceptance of a woman's right to refuse cesarean delivery, at least in emergency situations, is not uniform. Differing attitudes between obstetricians from the eight countries may reflect diverse legal and ethical environments.
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| 2. |
- Depienne, Christel, et al.
(författare)
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
- 2017
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 136:4, s. 463-479
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Tidskriftsartikel (refereegranskat)abstract
- Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, and review additional data from 37 previously published patients with 1q43q44 microdeletions. We compare clinical data of patients with 1q43q44 microdeletions with those of patients with point mutations in HNRNPU and ZBTB18 to assess the contribution of each gene as well as the possibility of epistasis between genes. Our study demonstrates that AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance. ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance. Co-deletion of contiguous genes has additive effects. Our results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of AKT3, ZBTB18 and HNRNPU in humans.
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