17 research outputs found
Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy
Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis, characteristic morphological abnormalities of erythroblasts, and iron overloading. CDA I is caused by mutations in the CDAN I gene, encoding a protein named codanin-1. Complex bone abnormalities, especially syndactyly, have not been systematically described with this disease. We present two cases of morphologically and genetically confirmed CDA I with striking bone abnormalities and response to treatment with alpha-interferon. Our cases clearly document the association of skeletal anomalism with CDA I and indicate that codanin-1 may play a role in the development of the skeleto
Prepectoral versus subpectoral implant-based breast reconstruction after skin-sparing mastectomy or nipple-sparing mastectomy (OPBC-02/ PREPEC): a pragmatic, multicentre, randomised, superiority trial.
INTRODUCTION
The emphasis on aesthetic outcomes and quality of life (QoL) has motivated surgeons to develop skin-sparing or nipple-sparing mastectomy (SSM/ NSM) for breast cancer treatment or prevention. During the same operation, a so-called immediate breast reconstruction is performed. The breast can be reconstructed by positioning of a breast implant above (prepectoral) or below (subpectoral) the pectoralis major muscle or by using the patients' own tissue (autologous reconstruction). The optimal positioning of the implant prepectoral or subpectoral is currently not clear. Subpectoral implant-based breast reconstruction (IBBR) is still standard care in many countries, but prepectoral IBBR is increasingly performed. This heterogeneity in breast reconstruction practice is calling for randomised clinical trials (RCTs) to guide treatment decisions.
METHODS AND ANALYSIS
International, pragmatic, multicentre, randomised, superiority trial. The primary objective of this trial is to test whether prepectoral IBBR provides better QoL with respect to long-term (24 months) physical well-being (chest) compared with subpectoral IBBR for patients undergoing SSM or NSM for prevention or treatment of breast cancer. Secondary objectives will compare prepectoral versus subpectoral IBBR in terms of safety, QoL and patient satisfaction, aesthetic outcomes and burden on patients. Total number of patients to be included: 372 (186 per arm).
ETHICS AND DISSEMINATION
This study will be conducted in compliance with the Declaration of Helsinki. Ethical approval has been obtained for the lead investigator's site by the Ethics Committee 'Ethikkommission Nordwest- und Zentralschweiz' (2020-00256, 26 March 2020). The results of this study will be published in a peer-reviewed medical journal, independent of the results, following the Consolidated Standards of Reporting Trials standards for RCTs and good publication practice. Metadata describing the type, size and content of the datasets will be shared along with the study protocol and case report forms on public repositories adhering to the FAIR (Findability, Accessibility, Interoperability, and Reuse) principles.
TRIAL REGISTRATION NUMBER
NCT04293146
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Sedimentology of lower Pliocene to Upper Pleistocene diamictons from IODP Site U1358, Wilkes Land margin, and implications for East Antarctic Ice Sheet dynamics
AbstractDuring the early Pliocene a dynamic marine-based ice sheet retreated from the Wilkes Land margin with periodic ice advances beyond Last Glacial Maximum position. A change in sand provenance is indicative of a more stable Mertz Glacier system during the Late Pleistocene. East Antarctic Ice Sheet (EAIS) dynamics were evaluated through the analysis of marine diamictons from Integrated Ocean Drilling Program (IODP) site U1358 on the Adélie Land continental shelf. The warmer than present conditions of the early Pliocene coupled with the site's proximity to the landward sloping Wilkes Subglacial Basin provided the rationale for the investigations at this site. Based on visual core descriptions, particle size distributions, and major and trace element ratios, we interpret the origin of lower Pliocene strata by intermittent glaciomarine sedimentation with open-marine conditions and extensive glacial advances to the outer shelf. Heavy mineral analyses show that sand-sized detritus in the lower Pliocene strata was sourced from local intermediate to high-grade metamorphic rocks near Mertz Glacier. In contrast, Pleistocene diamictons exhibit a larger contribution from a prehnite-pumpellyite greenschist facies suggesting supply via iceberg rafting from northern Victoria Land. From this sedimentological evidence, we postulate a shift from a dynamic EAIS margin in the early Pliocene to possible stabilization in the Pleistocene