Search results for "REE"
showing 10 items of 13625 documents
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Imaging of Temporomandibular Joint: Approach by Direct Volume Rendering
2014
Background: The purpose of this study was to conduct a morphological analysis of the temporomandibular joint, a highly specialized synovial joint that permits movement and function of the mandible. Materials and Methods: We have studied the temporom-andibular joint anatomy, directly on the living, from 3D images obtained by medical imaging Computed Tomography and Nuclear Magnetic Resonance acquisition, and subsequent re-engineering techniques 3D Surface Rendering and Volume Rendering. Data were analysed with the goal of being able to isolate, identify and distinguish the anatomical structures of the joint, and get the largest possible number of information utilizing software for post-proces…
Case series of fluoroscopic findings and 3D reconstruction of human spinal MRIs of the space of Okada.
2020
Objective To better understand the unexpected spread of contrast medium observed by conventional fluoroscopic X-ray images during standard neuraxial techniques used in the treatment of pain. The support of 3D reconstruction of MRI images of structures within the lumbar spine was used to better understand the space of Okada. Methods Lumbar facet joint and epidural corticosteroid injections in five patients under fluoroscopic guidance with loss of resistance to air or saline to identify the facet joints or epidural space. Next, in a retrospective study, the authors examined the retrodural space of Okada and the neighboring tissues with 3D reconstruction of spinal MRIs of seven patients withou…
Correlation of Tibial Low-Frequency Ultrasound Velocity with Femoral Radiographic Measurements and BMD in Elderly Women
2009
The ultrasonic axial transmission technique has been proposed as a method for cortical bone characterization. Using a low enough center frequency, Lamb modes can be excited in long bones. Lamb waves propagate throughout the cortical bone layer, which makes them appealing for characterizing bone material and geometrical properties. In the present study, a prototype low-frequency quantitative ultrasonic axial transmission device was used on elderly women (n = 132) to investigate the relationships between upper femur geometry and bone mineral density (BMD) and tibial speed of sound. Ultrasonic velocities (V) were recorded using a two-directional measurement set-up on the midtibia and compared …
Quasi-Fractional Models of Human Tendons Hereditariness
2018
In this study, the authors, after collecting a series of experimental evidences following a creep and relaxation tendon campaign, propose a non-linear model of the viscoelastic behavior of the tendons. The ligaments investigated are the patellars and the hamstrings. The analytical model proposed by the authors aims to explain the non-linear hereditary behavior of these tissues and proposes an approach with which to develop a hereditary fractional-order non-linear model.
The Pro-Inflammatory IL23/IL23R/IL17 Axis Is Active in IL23R-Expressing Circulating CLL Cells in Patients with Poor Prognosis
2012
Abstract Abstract 3889 Inflammatory cytokines play a biological role in the pathogenesis of Chronic lymphocytic leukemia (CLL). IL23 is a pro-inflammatory cytokine involved in T-cell responses and in tissue remodeling. It has been shown that the IL23 receptor (IL23R) is up-regulated in primary acute lymphoblastic leukemia (ALL) cells, and that IL23 inhibits ALL cell growth. Nevertheless, the anti-tumor function of IL23 still remains controversial. The role of the IL23R/IL23 axis in CLL has not been investigated so far. Herein we evaluated the expression pattern of IL23R/IL23 axis and its correlation with progression free survival (PFS) in CLL patients. A total of 233 newly diagnosed Binet s…
Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model
2012
SummaryMyotonic dystrophy type 1 (DM1) is a genetic disease caused by the pathological expansion of a CTG trinucleotide repeat in the 3' UTR of the DMPK gene. In the DMPK transcripts, the CUG expansions sequester RNA-binding proteins into nuclear foci, including transcription factors and alternative splicing regulators such as MBNL1. MBNL1 sequestration has been associated with key features of DM1. However, the basis behind a number of molecular and histological alterations in DM1 remain unclear. To help identify new pathogenic components of the disease, we carried out a genetic screen using a Drosophila model of DM1 that expresses 480 interrupted CTG repeats, i(CTG)480, and a collection of…
Non-conventional forms of HLA-B27 are expressed in spondyloarthritis joints and gut tissue
2016
Objectives Human leukocyte antigen (HLA)-B27 (B27) is the strongest genetic factor associated with development of Ankylosing Spondylitis and other spondyloarthropathies (SpA), yet the role it plays in disease pathogenesis remains unclear. We investigated the expression of potentially pathogenic non-conventional heavy chain forms (NC) of B27 in synovial and intestinal tissues obtained from SpA patients. We also determined the presence of NC-B27 in joints, lymphoid and gastrointestinal tissue from B27 transgenic (TG1) rats with M.tuberculosis-induced SpA. Methods Expression of NC-B27 in human SpA joints and gut and in (21-3 × 283-2)F1 HLA-B27/Huβ2m rat tissue was determined by immunohistochem…
Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene
2008
Myotonic Dystrophy type 1 (DM1) is a multi-system disorder characterized by muscle wasting, myotonia, cardiac conduction defects, cataracts, and neuropsychological dysfunction. DM1 is caused by expansion of a CTG repeat in the 3 untranslated region (UTR) of the Dystrophia Myotonica Protein Kinase (DMPK) gene. A body of work demonstrates that DMPK mRNAs containing abnormally expanded CUG repeats are toxic to several cell types. A core mechanism underlying symptoms of DM1 is that mutant DMPK RNA interferes with the developmentally regulated alternative splicing of defined pre-mRNAs. Expanded CUG repeats fold into ds(CUG) hairpins that sequester nuclear proteins including human Muscleblind-lik…
A new tool to improve pedicle screw placement accuracy in navigated spine surgery: A monocentric study
2021
Objective Navigated instrumented spine surgery is burden by a low but significant screw mispositioning risks, respectively, for the 2D imaging system from 15 to 40% and, for the 3D imaging system, ranging from 4.1 to 11.5%. The primary objective of this study was to demonstrate the efficacy of a new "screw-like" tool in order to further decrease pedicle screws mispositioning rate during vertebral navigated spine surgery. Materials and methods Between January and June 2019 an initial case series of 18 patients were enrolled. All patients underwent a pedicle screw fixation, both in thoracic (Th10-Th12) and lumbosacral (L1-S1) spine, using O-arm (Medtronic Navigation, Louisville, Colorado) and…