In Silico Structural Prediction for the Generation of Novel Performant Midi-Dystrophins Based on Intein-Mediated Dual AAV Approach.

Duchenne Muscular Dystrophy (DMD) is a pediatric disorder characterized by progressive muscle degeneration and premature death, and has no current cure. The current, most promising therapeutic avenue is based on gene replacement mediated by adeno-associated viruses (AAVs) using a shortened, but still functional, version of dystrophin, known as micro-dystrophin (µDys), to fit AAV capacity. The limited improvements observed in clinical trials suggest a sub-optimal performance of µDys in the human context that could be due to the lack of key domains in the protein.

Natural variation in response to combined water and nitrogen deficiencies in Arabidopsis.

Understanding plant responses to individual stresses does not mean that we understand real-world situations, where stresses usually combine and interact. These interactions arise at different levels, from stress exposure to the molecular networks of the stress response. Here, we built an in-depth multiomic description of plant responses to mild water (W) and nitrogen (N) limitations, either individually or combined, among 5 genetically different Arabidopsis (Arabidopsis thaliana) accessions.

Intracardiac electrophysiology to characterize susceptibility to ventricular arrhythmias in murine models.

Sudden cardiac death (SCD) and ventricular fibrillation are rare but severe complications of many cardiovascular diseases and represent a major health issue worldwide. Although the primary causes are often acute or chronic coronary diseases, genetic conditions, such as inherited channelopathies or non-ischemic cardiomyopathies are leading causes of SCD among the young. However, relevant experimental models to study the underlying mechanisms of arrhythmias and develop new therapies are still needed.

Real-life evaluation of the 2017 McDonald criteria for relapsing-remitting multiple sclerosis after a clinically isolated syndrome confirms a gain in time-to-diagnosis.

Background: Previous cohort studies evaluating the performances of the McDonald criteria suffered from bias regarding real-life conditions. We aimed to evaluate the probability of diagnosing relapsing-remitting multiple sclerosis (MS) at several timepoints from the first medical evaluation and the gain in time-to-diagnosis with the 2017 McDonald criteria compared with the 2001, 2005 and 2010 versions in real life.

Methods: Patients with a first demyelinating event suggestive of MS between 2002 and 2020 were included in the ReLSEP, an exhaustive and prospectively incremented registry of MS patients in North-Eastern France.

Intracerebral Correlates of Scalp EEG Ictal Discharges Based on Simultaneous Stereo-EEG Recordings.

Background And Objectives: It remains unknown to what extent ictal scalp EEG can accurately predict the localization of the intracerebral seizure onset in presurgical evaluation of drug-resistant epilepsies. In this study, we aimed to define homogeneous ictal scalp EEG profiles (based on their first ictal abnormality) and assess their localizing value using simultaneously recorded scalp EEG and stereo-EEG.

Methods: We retrospectively included consecutive patients with drug-resistant focal epilepsy who had simultaneous stereo-EEG and scalp EEG recordings of at least 1 seizure in the epileptology unit in Nancy, France.

Evaluation and prediction of salt effects on pig muscle by deep UV and machine learning.

The salting process for meat transformation is a crucial step in conventional industry. Recent developments in label-free spectrometry techniques combined with machine learning hold great promise for high-precision salt processing. In this study, we applied UV fluorescence to characterize salting treatments in pig's Teres major muscle and predict NaCl concentrations.

Narcolepsy secondary to anti-Ma2 encephalitis: two case reports.

Unlabelled: Recent studies suggest that sleep disorders are present in two-thirds of patients with autoimmune encephalitis. In anti-Ma2 encephalitis, hypersomnia appears to be frequent. However, only few cases of type 1 narcolepsy have been reported to date with anti-Ma2 encephalitis.

Influence of sodium chloride on muscle UV autofluorescence characteristics.

Salted and tumbled pork teres major muscle samples, with varying sodium chloride content (1.1 % to 1.9 %), were examined by UV fluorescence spectroscopy.

An algorithm to determine the date when the McDonald criteria are met for the diagnosis of relapsing-remitting multiple sclerosis.

Background: A patient is diagnosed with multiple sclerosis once they meet the McDonald criteria of dissemination in space and time. Studies of cohorts of patients with multiple sclerosis need a reproducible way to determine an accurate date of diagnosis. We developed an automatic data-driven algorithm to determine the date when the MacDonald criteria are met, which we validated with the Registre Lorrain des Scleroses en Plaques (ReLSEP), a regional French registry of patients with multiple sclerosis.

Visual phenomena and anatomo-electro-clinical correlations in occipital lobe seizures.

Background: Occipital lobe seizure are underrepresented in epilepsy surgery cases series. This may reflect the fear for post-surgical functional deficits but also the doubt about the ability of anatomo-electro-clinical correlations to localize precisely the epileptogenic zone in occipital lobe seizure.

Methods: In this expert opinion paper, we review first the general clinical characteristics of occipital lobe seizures, describe the repertoire of visual phenomena and oculo-motor signes in occipital seizures, describe inter-ictal and ictal EEG and finally the possible schemes of epileptogenic zone organization.

Epilepsy surgery for drug-resistant temporal lobe epilepsy in over-50 year-olds: Seizure outcome, surgical complications and neuropsychological outcome.

Objective: Surgery is an effective treatment for drug-resistant temporal-lobe epilepsy (TLE), but is still underutilized for older patients because of a perceived higher rate of perioperative complications, cognitive decline and worse seizure outcome.

Methods: We retrospectively screened all patients operated on in our institution for drug-resistant TLE between 2007 and 2019. Data of patients aged ≥50 years versus <50 years at surgery were compared.

Interaction between photoperiod and variation in circadian rhythms in tomato.

Background: Many biological processes follow circadian rhythmicity and are controlled by the circadian clock. Predictable environmental changes such as seasonal variation in photoperiod can modulate circadian rhythms, allowing organisms to adjust the timing of their biological processes to the time of the year. In some crops such as rice, barley or soybean, mutations in circadian clock genes have altered photoperiod sensitivity, enhancing their cultivability in specific seasons and latitudes.

Lentiviral standards to determine the sensitivity of assays that quantify lentiviral vector copy numbers and genomic insertion sites in cells.

With an increasing number of gene therapy clinical trials and drugs reaching the market, it becomes important to standardize the methods that evaluate the efficacy and safety of gene therapy. We herein report the generation of lentiviral standards which are stable, cloned human cells prepared from the diploid HCT116 cell line and which carry a known number of lentiviral vector copies in their genome. These clones can be used as reference cellular materials for the calibration or qualification of analytical methods that quantify vector copy numbers in cells (VCN) or lentiviral vector genomic integration sites (IS).

The HSP90/R2TP assembly chaperone promotes cell proliferation in the intestinal epithelium.

The R2TP chaperone cooperates with HSP90 to integrate newly synthesized proteins into multi-subunit complexes, yet its role in tissue homeostasis is unknown. Here, we generated conditional, inducible knock-out mice for Rpap3 to inactivate this core component of R2TP in the intestinal epithelium. In adult mice, Rpap3 invalidation caused destruction of the small intestinal epithelium and death within 10 days.

Poor results after pyrocarbon interpositional shoulder arthroplasty.

Background: This study aimed to describe the clinical outcomes and complications of 10 cases of pyrocarbon interposition shoulder arthroplasty (PISA).

Methods: The clinical and radiographic records of 10 patients who underwent PISA using the InSpyre shoulder prosthesis (Tornier-Wright) between July 2012 and March 2017 were reviewed. The mean age at surgery was 55 years.

The Evolutionary Dynamics of Genetic Incompatibilities Introduced by Duplicated Genes in Arabidopsis thaliana.

Although gene duplications provide genetic backup and allow genomic changes under relaxed selection, they may potentially limit gene flow. When different copies of a duplicated gene are pseudofunctionalized in different genotypes, genetic incompatibilities can arise in their hybrid offspring. Although such cases have been reported after manual crosses, it remains unclear whether they occur in nature and how they affect natural populations.

Can preoperative imaging predict the outcomes after arthroscopic release for elbow arthritis?

Introduction: The primary symptoms of elbow osteoarthritis are the progressive development of stiffness along with pain at the end range of motion due to osteophyte impingement. Surgical treatment involves resecting these "bone stops". In the literature, these osteophytic lesions are more common than cartilage lesions, which suggests they may occur beforehand.

Arthroscopic debridement for osteoarthritis of the elbow: Results and analysis of predictive factors.

Introduction: Osteoarthritis is the second most frequent cause of elbow stiffness, after trauma sequelae. Surgical treatment mainly consists of debridement. The main aim of the present study was to assess the efficacy of arthroscopic treatment of osteoarthritis of the elbow on Andrews-Carson score.

Autologous Conditioned Plasma for tendon healing following arthroscopic rotator cuff repair. Prospective comparative assessment with magnetic resonance arthrography at 6 months' follow-up.

Introduction: Despite improvements in technique and materials for rotator cuff repair, mean re-tear rates remain close to 30%. The aim of the present study was to assess injection of Autologous Conditioned Plasma (ACP™, Arthrex) for tendon healing after arthroscopic repair. The study hypothesis was that ACP™ improves the tendon-healing rate.

The SCOOP12 peptide regulates defense response and root elongation in Arabidopsis thaliana.

Small secreted peptides are important players in plant development and stress response. Using a targeted in silico approach, we identified a family of 14 Arabidopsis genes encoding precursors of serine-rich endogenous peptides (PROSCOOP). Transcriptomic analyses revealed that one member of this family, PROSCOOP12, is involved in processes linked to biotic and oxidative stress as well as root growth.

Local infiltration analgesia versus interscalene nerve block for postoperative pain control after shoulder arthroplasty: a prospective, randomized, comparative noninferiority study involving 99 patients.

Background: The aim of this study was to compare the efficacy of local infiltration analgesia (LIA) and interscalene nerve block (ISB) for early postoperative pain control after total shoulder arthroplasty (TSA). The hypothesis was that LIA is not inferior to ISB.

Methods: A prospective, randomized controlled study was performed in 2014-2016.