Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.

Background And Objectives: After clinical evaluation, the molecular diagnosis of type 1 facioscapulohumeral dystrophy (FSHD1) relies in most laboratories on the detection of a shortened D4Z4 array at the 4q35 locus by Southern blotting. In many instances, this molecular diagnosis remains inconclusive and requires additional experiments to determine the number of D4Z4 units or identify somatic mosaicism, 4q-10q translocations, and proximal p13E-11 deletions. These limitations highlight the need for alternative methodologies, illustrated by the recent emergence of novel technologies such as molecular combing (MC), single molecule optical mapping (SMOM), or Oxford Nanopore-based long-read sequencing providing a more comprehensive analysis of 4q and 10q loci.

Alterations of Microstructure and Sodium Homeostasis in Fast Amyotrophic Lateral Sclerosis Progressors: A Brain DTI and Sodium MRI Study.

Background And Purpose: While conventional MR imaging has limited value in amyotrophic lateral sclerosis, nonconventional MR imaging has shown alterations of microstructure using diffusion MR imaging and recently sodium homeostasis with sodium MR imaging. We aimed to investigate the topography of brain regions showing combined microstructural and sodium homeostasis alterations in amyotrophic lateral sclerosis subgroups according to their disease-progression rates.

Materials And Methods: Twenty-nine patients with amyotrophic lateral sclerosis and 24 age-matched healthy controls were recruited.

Cardiac MRI Features and Prognostic Value in Immune Checkpoint Inhibitor-induced Myocarditis.

Background Cardiac MRI features are not well-defined in immune checkpoint inhibitor (ICI)-induced myocarditis (ICI-M), a severe complication of ICI therapy in patients with cancer. Purpose To analyze the cardiac MRI features of ICI-M and to explore their prognostic value in major adverse cardiovascular events (MACE). Materials and Methods In this retrospective study from May 2017 to January 2020, cardiac MRI findings (including late gadolinium enhancement [LGE], T1 and T2 mapping, and extracellular volume fraction [ECV] scores) of patients with ICI-M were compared with those of patients with cancer scheduled to receive ICI therapy (pre-ICI group) and patients with viral myocarditis.

Withholding and withdrawal of life-sustaining therapy in 8569 trauma patients: A multicentre, analytical registry study.

Background: This study aimed to determine the prevalence of withholding or withdrawal of life-sustaining therapy (WLST) decisions in trauma ICU patients, using a large registry. We hypothesised that this prevalence is similar to that of the general population admitted to an ICU. As secondary aims, it sought to describe the trauma patients for whom the decision was made for WLST and the factors associated with this decision.

Hypogammaglobulinemia and Infections in Patients With Multiple Sclerosis Treated With Rituximab.

Background And Objectives: To determine the frequency of hypogammaglobulinemia and infections in patients with multiple sclerosis (PwMS) receiving rituximab (RTX).

Methods: This prospective observational study included all consecutive PwMS receiving RTX at the university hospital of Marseille, France, between 2015 and 2020. Patient visits occurred at least every 6 months.

End-of-Life Care Among Patients With Bipolar Disorder and Cancer: A Nationwide Cohort Study.

Objective: This study aimed to describe end-of-life (EOL) care in individuals with bipolar disorder (BD) who died of cancer compared with mentally healthy individuals.

Methods: This was a nationwide cohort study of all adult individuals who died of cancer in hospitals in France between 2013 and 2016. Outcomes were compared between individuals with BD and mentally healthy individuals in the last month of life including palliative care and high-intensity EOL care (chemotherapy, artificial nutrition, and other interventions).

Shell-vial Assay in Diagnosis of Disseminated BCG Infection in an Immunodeficient Child.

We are reporting a case of Bacillus Calmette-Guérin vaccine-disseminated infection in a 19-month-old HIV-negative girl diagnosed with severe combined immunodeficiency. While standard culture protocols failed to isolate and culture the Mycobacterium bovis Bacillus Calmette-Guérin strain, it was isolated from skin and mesenteric lymph node biopsies using the shell-vial assay, allowing whole-genome sequencing and in silico drug susceptibility testing.

Quantitative Brain Sodium MRI Depicts Corticospinal Impairment in Amyotrophic Lateral Sclerosis.

Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that mainly affects the upper and lower motor neurons. Recent sodium (Na) MRI studies have shown that abnormal sodium concentration is related to neuronal suffering in neurodegenerative conditions. Purpose To use Na MRI to investigate abnormal sodium concentrations and map their distribution in the brains of study participants with ALS as compared with healthy control subjects.

CD146 (Cluster of Differentiation 146).

CD146 (cluster of differentiation 146) is an adhesion molecule that is expressed by different cells constituting vessels, particularly endothelial cells. The last 30 years of research in this field have shown that CD146 plays a key role in the control of several vessel functions. Three forms of CD146 have been described, including 2 transmembrane isoforms and a soluble protein that is detectable in the plasma.

Diffusion Properties and 3D Architecture of Human Lower Leg Muscles Assessed with Ultra-High-Field-Strength Diffusion-Tensor MR Imaging and Tractography: Reproducibility and Sensitivity to Sex Difference and Intramuscular Variability.

Purpose To demonstrate the reproducibility of the diffusion properties and three-dimensional structural organization measurements of the lower leg muscles by using diffusion-tensor imaging (DTI) assessed with ultra-high-field-strength (7.0-T) magnetic resonance (MR) imaging and tractography of skeletal muscle fibers. On the basis of robust statistical mapping analyses, this study also aimed at determining the sensitivity of the measurements to sex difference and intramuscular variability.

Schwannomin-interacting Protein 1 Isoform IQCJ-SCHIP1 Is a Multipartner Ankyrin- and Spectrin-binding Protein Involved in the Organization of Nodes of Ranvier.

The nodes of Ranvier are essential regions for action potential conduction in myelinated fibers. They are enriched in multimolecular complexes composed of voltage-gated Nav and Kv7 channels associated with cell adhesion molecules. Cytoskeletal proteins ankyrin-G (AnkG) and βIV-spectrin control the organization of these complexes and provide mechanical support to the plasma membrane.

Determination of a cut-off value of antral area measured in the supine position for the fast diagnosis of an empty stomach in the parturient: A prospective cohort study.

Background: Ultrasound measurement of the antral cross-sectional area of the stomach, performed in the supine position, has been described for preoperative assessment of gastric content in the adult, but, to date, no study has determined the cut-off value of the antral area for the diagnosis of an empty stomach in the parturient. Nevertheless, previous studies in parturients have reported that the use of a simple qualitative grading scale (0 to 2) was reliable for the estimation of the gastric fluid volume. However, this qualitative grading score requires turning the parturient into the right lateral decubitus position for the ultrasound examination, something which may not be easily feasible, particularly in the case of an obstetric emergency.

A Multidimensional Computerized Adaptive Short-Form Quality of Life Questionnaire Developed and Validated for Multiple Sclerosis: The MusiQoL-MCAT.

The aim was to develop a multidimensional computerized adaptive short-form questionnaire, the MusiQoL-MCAT, from a fixed-length QoL questionnaire for multiple sclerosis.A total of 1992 patients were enrolled in this international cross-sectional study. The development of the MusiQoL-MCAT was based on the assessment of between-items MIRT model fit followed by real-data simulations.

Structural and functional characterization of the Clostridium perfringens N-acetylmannosamine-6-phosphate 2-epimerase essential for the sialic acid salvage pathway.

Pathogenic bacteria are endowed with an arsenal of specialized enzymes to convert nutrient compounds from their cell hosts. The essential N-acetylmannosamine-6-phosphate 2-epimerase (NanE) belongs to a convergent glycolytic pathway for utilization of the three amino sugars, GlcNAc, ManNAc, and sialic acid. The crystal structure of ligand-free NanE from Clostridium perfringens reveals a modified triose-phosphate isomerase (β/α)8 barrel in which a stable dimer is formed by exchanging the C-terminal helix.

[In vivo biomechanics of unicondylar knee replacement performed using minimally invasive technique].

Disturbed kinematics of the knee plays an important role in early failure of a unicondylar knee prosthesis (UNI). Recent studies on kinematics have shown that an intact anterior cruciate ligament (ACL) is important for a successful UNI. In this study, in vivo fluoroscopic analysis of knee kinematics was performed for 30 patients with a successful medial UNI implanted with the use of minimally invasive technique.

In vivo kinematic evaluation and design considerations related to high flexion in total knee arthroplasty.

In designing a posterior-stabilized total knee arthroplasty (TKA) it is preferable that when the cam engages the tibial spine the contact point of the cam move down the tibial spine. This provides greater stability in flexion by creating a greater jump distance and reduces the stress on the tibial spine. In order to eliminate edge loading of the femoral component on the posterior tibial articular surface, the posterior femoral condyles need to be extended.

In vivo determination of knee kinematics for subjects implanted with a unicompartmental arthroplasty.

Femorotibial contact positions for 20 subjects implanted with a unicompartmental knee arthroplasty (UKA) were analyzed using videofluoroscopy. Femorotibial contact paths were determined using a computer-automated model-fitting technique. Subjects having a medial UKA experienced on average -0.

Modern unicompartmental knee arthroplasty with cement: a three to ten-year follow-up study.

Background: Unicompartmental arthroplasty is a treatment alternative when only one compartment of the knee is affected with arthritis, but the reported results of this procedure have been variable. The purpose of the present study was to evaluate the results of a modern unicompartmental knee arthroplasty performed with use of a cemented metal-backed prosthesis and surgical instrumentation comparable with that used for total knee replacement.

Methods: The indications for the procedure were osteonecrosis or osteoarthritis associated with full-thickness loss of cartilage that was limited to one tibiofemoral compartment as evaluated on standing and stress radiographs.