| 1. |
- Fergelot, Patricia, et al.
(författare)
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Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
- 2016
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 170:12, s. 3069-3082
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Tidskriftsartikel (refereegranskat)abstract
- Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8–10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 proteins. Up to now 26 individuals with an EP300 mutation have been published. Here, we describe the phenotype and genotype of 42 unpublished RSTS patients carrying EP300 mutations and intragenic deletions and offer an update on another 10 patients. We compare the data to 308 individuals with CREBBP mutations. We demonstrate that EP300 mutations cause a phenotype that typically resembles the classical RSTS phenotype due to CREBBP mutations to a great extent, although most facial signs are less marked with the exception of a low-hanging columella. The limb anomalies are more similar to those in CREBBP mutated individuals except for angulation of thumbs and halluces which is very uncommon in EP300 mutated individuals. The intellectual disability is variable but typically less marked whereas the microcephaly is more common. All types of mutations occur but truncating mutations and small rearrangements are most common (86%). Missense mutations in the HAT domain are associated with a classical RSTS phenotype but otherwise no genotype–phenotype correlation is detected. Pre-eclampsia occurs in 12/52 mothers of EP300 mutated individuals versus in 2/59 mothers of CREBBP mutated individuals, making pregnancy with an EP300 mutated fetus the strongest known predictor for pre-eclampsia.
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| 2. |
- Sandoz, V, et al.
(författare)
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Improving mental health and physiological stress responses in mothers following traumatic childbirth and in their infants: study protocol for the Swiss TrAumatic biRth Trial (START)
- 2019
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 9:12, s. e032469-
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Tidskriftsartikel (refereegranskat)abstract
- Emergency caesarean section (ECS) qualifies as a psychological trauma, which may result in postnatal post-traumatic stress disorder (PTSD). Maternal PTSD may not only have a significant negative impact on mother–infant interactions, but also on long-term infant development. The partner’s mental health may also affect infant development. Evidence-based early interventions to prevent the development of postpartum PTSD in mothers are lacking. Immediately after a traumatic event, memory formation is vulnerable to interference. There is accumulating evidence that a brief behavioural intervention including a visuospatial task may result in a reduction in intrusive memories of the trauma.Methods and analysisThis study protocol describes a double-blind multicentre randomised controlled phase III trial testing an early brief maternal intervention including the computer game ‘Tetris’ on intrusive memories of the ECS trauma (≤1 week) and PTSD symptoms (6 weeks, primary outcome) of 144 women following an ECS. The intervention group will carry out a brief behavioural procedure including playing Tetris. The attention-placebo control group will complete a brief written activity log. Both simple cognitive tasks will be completed within the first 6 hours following traumatic childbirth. The intervention is delivered by midwives/nurses in the maternity unit.The primary outcome will be differences in the presence and severity of maternal PTSD symptoms between the intervention and the attention-placebo control group at 6 weeks post partum. Secondary outcomes will be physiological stress and psychological vulnerability, mother–infant interaction and infant developmental outcomes. Other outcomes will be psychological vulnerability and physiological regulation of the partner and their bonding with the infant, as well as the number of intrusive memories of the event.Ethics and disseminationEthical approval was granted by the Human Research Ethics Committee of the Canton de Vaud (study number 2017–02142). Dissemination of results will occur via national and international conferences, in peer-reviewed journals, public conferences and social media.Trial registration numberNCT 03576586.
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