Paired Tumor and Normal Whole Genome Sequencing of Metastatic Olfactory Neuroblastoma

Olfactory neuroblastoma (ONB) is a rare cancer of the sinonasal tract with little molecular characterization. We performed whole genome sequencing (WGS) on paired normal and tumor DNA from a patient with metastatic-ONB to identify the somatic alterations that might be drivers of tumorigenesis and/or metastatic progression.Genomic DNA was isolated from fresh frozen tissue from a metastatic lesion and whole blood, followed by WGS at >30X depth, alignment and mapping, and mutation analyses. Sanger sequencing was used to confirm selected mutations. Sixty-two somatic short nucleotide variants (SNVs) and five deletions were identified inside coding regions, each causing a non-synonymous DNA sequence change. We selected seven SNVs and validated them by Sanger sequencing. In the metastatic ONB samples collected several months prior to WGS, all seven mutations were present. However, in the original surgical resection specimen (prior to evidence of metastatic disease), mutations in KDR, MYC, SIN3B, and NLRC4 genes were not present, suggesting that these were acquired with disease progression and/or as a result of post-treatment effects.This work provides insight into the evolution of ONB cancer cells and provides a window into the more complex factors, including tumor clonality and multiple driver mutations

Does the McRoberts' manoeuvre need to start with thigh abduction? An innovative biomechanical study.

Guidelines and description about the achievement of the McRoberts manoeuvre are discordant, particularly concerning the need for abduction before the beginning of the manoeuvre. We sought to compare the biomechanical efficiency of the McRoberts' manoeuvre, with and without thigh abduction. In a postural comparative study, twenty-three gravidas > 32 weeks of gestational age and not in labour were assessed during three repetitions of two McRoberts' manoeuvre that differed in terms of starting position. For the (i) McRoberts, the legs were initially placed in stirrups; for the (m) McRoberts, the legs were resting on the bed, with thighs in wide abduction. For each manoeuvre, flexion of the plane of the external conjugate of the pelvis on the spine (ANGce), hip flexion and abduction, were assessed using an optoelectronic motion capture system. Lumbar curve were assessed with Epionics Spine® system. Temporal parameters including movement duration or acceleration of the external conjugate were also computed. All values ​​obtained for the two types of manoeuvres were compared using a Wilcoxon matched-pairs signed-ranks test. The significance level was defined as p < 0.05. The starting position of McRoberts' otherwise had no effect on the maximum ANGce (p = 0.199), the minimal lordosis of the lumbar curve (p = 0.474), or the maximal hip flexion (p = 0.057). The other parameters were not statistically different according to the starting position (p > 0.005). Regardless of the starting position, the McRoberts' manoeuvre allows ascension of the pubic symphysis and reduction of the lumbar lordosis. This results imply that the McRoberts' manoeuvre could be performed with the legs initially placed in the stirrups

Biomechanical comparison of squatting and "optimal" supine birth positions.

In obstetric science, it is unknown whether the inherent biomechanical features of the squatting position can be achieved and/or transposed to the supine birth position. In this study Biomechanical features of the squatting position were compared with 2 hyperflexed supine positions for giving birth. Thirteen pregnant women past the 32 weeks of gestational age not in labor were assessed first in the squatting position with the feet flat on the floor, then in the hyperflexed supine position, and finally in the optimal supine position "crushing" the hand of the caregiver onto the bed. For each position, the flexion of the spine associated with the plane of the external conjugate (ANGce) and the pelvis, hip flexion, and abduction were quantified using an optoelectronic motion capture system. A non-invasive strain-gauge-based measuring system was used to track the lumbar curve. An optimal position was defined with a flat lumbar spine and a pelvic inlet plane perpendicular to the lumbar spine (ANGce = 0° ± 5°). For the 13 participants, hip flexion, hip abduction, and the lumbar curve did not differ significantly for the three positions (squatting position, hyperflexed supine position, and OS) in the post-hoc analyses. The optimal supine position induced an ANGce closer to the perpendicular plane than the squatting position (p = 0.002). In the squatting position or in hyperflexed supine position positions, none of the subjects fulfilled the two conditions considered necessary to reach the optimal position. The squatting position was not significantly different from the supine hyperflexed supine position with or without voluntary lordosis correction

An alternating algorithm for Prompt Gamma Time Imaging with the TIARA project

International audienceIn hadrontherapy, the precise tracking of the hadron during treatment and the real-time determination of its different characteristics (prompt gamma positions, velocity profile and energy loss) is highly recommended to detect any change or mismatch between the treatment planning and the conditions present at the time of the treatment.To the best of our knowledge, there is currently no automatic method proposed to meet this need and promptly alert or halt the treatment if there is a risk of over-irradiating healthy tissues.In the present work, we present a mathematical measurement model and an alternating strategy that ensure a joint estimation of the different properties of the hadron (the prompt gamma positions and the velocity profile allow us to determine the energy loss) throughout the measured times of flight. Our proposition is based on convergence guarantees

An alternating algorithm for Prompt Gamma Time Imaging with the TIARA project

International audienceIn hadrontherapy, the precise tracking of the hadron during treatment and the real-time determination of its different characteristics (prompt gamma positions, velocity profile and energy loss) is highly recommended to detect any change or mismatch between the treatment planning and the conditions present at the time of the treatment.To the best of our knowledge, there is currently no automatic method proposed to meet this need and promptly alert or halt the treatment if there is a risk of over-irradiating healthy tissues.In the present work, we present a mathematical measurement model and an alternating strategy that ensure a joint estimation of the different properties of the hadron (the prompt gamma positions and the velocity profile allow us to determine the energy loss) throughout the measured times of flight. Our proposition is based on convergence guarantees