Recent developments in genetics and medically assisted reproduction : from research to clinical applications

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.Peer reviewe

Does the type of anesthesia influence the outcome after modular proximal mega prosthesis for bone metastases of the femur?

Background: Proximal femoral reconstruction with modular mega prosthesis after large oncologic resection is a long-lasting painful procedure associated with prolonged hospital stay and significant blood loss. We evaluated the influence of regional anesthesia on intraoperative and postoperative complications as well as length of hospital stay (LOS). Materials and Methods: We performed a retrospective study comparing three regimens of anesthesia on intraoperative and postoperative complications after proximal femoral reconstruction with mega prosthesis. Seventy-two patients were included. 26 of whom had general anesthesia (GA) alone (group 1), 21 had GA combined to lumbar epidural anesthesia (group 2) and 25 had GA combined to lumbar plexus block (group 3). Surgical procedures were similar and carried out by the same surgeon. Results: Demographic characteristics were equivalent between 3 groups, except for age and ASA score. Intraoperative variables were similar between groups except for intraoperative blood loss (p = 0.007), blood transfusion (p = 0.004) and opioids consumption (p = 0.01). Pulmonary infections were more frequent in group 1 compared to other groups (p = 0.036). Postoperative hypoventilations were less frequent in group 3 (p = 0.022). There were no difference for local complications, luxation and LOS. Type of anesthesia was found to be an independent predictive factor for intraoperative blood loss (p = 0.014), postoperative respiratory hypoventilation (p = 0.014) and respiratory infection (p = 0.011). Conclusion: Loco regional anesthesia, especially lumbar plexus block, may reduce blood loss, transfusion and postoperative complications after modular mega prosthesis for proximal femoral malignant lesions.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Deep Inferior Epigastric Perforator Flap (D.I.E.P) for Breast Reconstruction: Impact of Intraoperative Intrathecal Morphine on Outcome

info:eu-repo/semantics/publishe

Optogenetic Tuning Reveals Rho Amplification-Dependent Dynamics of a Cell Contraction Signal Network

Local cell contraction pulses play important roles in tissue and cell morphogenesis. Here, we improve a chemo-optogenetic approach and apply it to investigate the signal network that generates these pulses. We use these measurements to derive and parameterize a system of ordinary differential equations describing temporal signal network dynamics. Bifurcation analysis and numerical simulations predict a strong dependence of oscillatory system dynamics on the concentration of GEF-H1, an Lbc-type RhoGEF, which mediates the positive feedback amplification of Rho activity. This prediction is confirmed experimentally via optogenetic tuning of the effective GEF-H1 concentration in individual living cells. Numerical simulations show that pulse amplitude is most sensitive to external inputs into the myosin component at low GEF-H1 concentrations and that the spatial pulse width is dependent on GEF-H1 diffusion. Our study offers a theoretical framework to explain the emergence of local cell contraction pulses and their modulation by biochemical and mechanical signals

Preparing DNA-mimicking multi-line nanocaterpillars via in situ nanoparticlisation of fully conjugated polymers

A unique hierarchical evolution from single-line nanocaterpillars to multi-line nanocaterpillars and then to multi-line nanocaterpillars bearing a few long-chain branches was demonstrated by in situ nanoparticlisation of fully conjugated poly(2,5-dihexyloxy-1,4-phenylene)-block-poly(3-methylthiophene) (PPP-b-P3MT). PPP-b-P3MTs of various block ratios were successfully synthesised by the Grignard metathesis polymerization method; moreover, these block copolymers underwent spontaneous self-assembly during the polymerization owing to the solvophobicity or strong π–π interactions of the core block, i.e. P3MT. These in situ generated PPP-b-P3MT NPs were quite different from the previously reported NPs generated from poly(2,5-dihexyloxy-1,4-phenylene)-block-polythiophene (PPP-b-PT). AFM and TEM images revealed that PPP-b-P3MTs formed single- to multi-line nanocaterpillars, whereas PPP-b-PTs only formed shorter single-line nanocaterpillars. On the basis of PXRD and UV–vis data, we speculated that this interesting morphology of multi-line nanocaterpillars, resembling duplex DNA, arose from different packing modes and crystallinity as well as improved solubility of the P3MT core compared with the NPs containing the PT core.ISSN:1759-9962ISSN:1759-995