Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening.

In France, sickle cell disease newborn screening (SCD NBS) has been targeted to at-risk regions since 1984, but generalization to the whole population will be implemented from November 2024. Although tandem mass spectrometry (MS/MS) is already used for the NBS of several inherited metabolic diseases, its application for SCD NBS has not been widely adopted worldwide. The aim of this study was to evaluate a dedicated MS/MS kit (Targeted MS/MS Hemo, ZenTech, LaCAR Company, Liege, Belgium) for SCD NBS and to compare the results obtained with those from an NBS reference center using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) and cation-exchange high-performance liquid chromatography (CE-HPLC, Variant NBS, Biorad Laboratories, Inc.

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

[The health executive-advanced practice nurse: a winning team].

The example of an advanced practice nurse/health executive pairing up in an outpatient psychiatric department shows that pooling the missions and skills of each can help to improve the care pathway for users and provide support for teams. The success of this partnership depends on the sharing of know-how and a clear definition of each person's role and responsibilities.

Breast implant silicone exposure induces immunogenic response and autoimmune markers in human periprosthetic tissue.

Silicone-based breast implants are commonly used, but there are concerns about their long-term safety. While implantation results in the formation of a periprosthetic tissue that isolates the implant from the rest of the host body, silicone can leak and reach surrounding tissues. We combined histological analysis and gene expression profiling (RNA sequencing) of samples from human patients with silicone breast implants with different fillers (silicone or serum), surface topographies and/or shell rupture, and performed systematic cross-comparisons.

Effect of oral nintedanib vs placebo on epistaxis in hereditary hemorrhagic telangiectasia: the EPICURE multicenter randomized double-blind trial.

Epistaxis greatly affects patients with hereditary hemorrhagic telangiectasia (HHT). Although few systemic treatment exist, nintedanib, is a good candidate thanks to its anti-angiogenic activity. Our main objective was to evaluate the efficacy of oral nintedanib on epistaxis duration in HHT patients with moderate to severe epistaxis.

Cortical beta power reflects the influence of Pavlovian cues on human decision-making.

Reward-predictive cues can affect decision-making by enhancing instrumental responses towards the same (Specific transfer) or similar (General transfer) rewards. The main theories on cue-guided decision-making consider Specific transfer as driven by the activation of previously learned instrumental actions induced by cues sharing the sensory-specific properties of the reward they are associated with. However, to date, such theoretical assumption has never been directly investigated at the neural level.

Discrete Synaptic Events Induce Global Oscillations in Balanced Neural Networks.

Despite the fact that neural dynamics is triggered by discrete synaptic events, the neural response is usually obtained within the diffusion approximation representing the synaptic inputs as Gaussian noise. We derive a mean-field formalism encompassing synaptic shot noise for sparse balanced neural networks. For low (high) excitatory drive (inhibitory feedback) global oscillations emerge via continuous or hysteretic transitions, correctly predicted by our approach, but not from the diffusion approximation.

Validation of a screening test based on symbols visual search to detect visuo-attentionnal reading difficulties.

Objective: Visuo-attentional dyslexia has been associated with impaired simultaneous visual processing of multiple items made of separable features (i.e. symbols).

De-escalating and discontinuing disease-modifying therapies in multiple sclerosis.

The development of disease-modifying therapies (DMTs) for the treatment of multiple sclerosis (MS) has been highly successful in recent decades. It is now widely accepted that early initiation of DMTs after disease onset is associated with a better long-term prognosis. However, the question of when and how to de-escalate or discontinue DMTs remains open and critical.

Spinal muscular atrophy is also a disorder of spermatogenesis.

Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.

Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.

Changes in Respiratory Syncytial Virus-Associated Hospitalisations Epidemiology After Nirsevimab Introduction in Lyon, France.

Background: Respiratory Syncytial Virus (RSV) is a major health concern, particularly for infants. In France, Nirsevimab, a long-acting monoclonal antibody to prevent RSV-associated lower respiratory tract infections (LRTI) was available from September 2023. We described RSV-associated LRTI hospitalisations during the 2023-2024 season among infants younger than six months born at the Hospices Civils de Lyon (HCL), and evaluated the effectiveness of Nirsevimab against RSV-LRTI hospitalisation.

A modular machine learning tool for holistic and fine-grained behavioral analysis.

Artificial intelligence techniques offer promising avenues for exploring human body features from videos, yet no freely accessible tool has reliably provided holistic and fine-grained behavioral analyses to date. To address this, we developed a machine learning tool based on a two-level approach: a first lower-level processing using computer vision for extracting fine-grained and comprehensive behavioral features such as skeleton or facial points, gaze, and action units; a second level of machine learning classification coupled with explainability providing modularity, to determine which behavioral features are triggered by specific environments. To validate our tool, we filmed 16 participants across six conditions, varying according to the presence of a person ("Pers"), a sound ("Snd"), or silence ("Rest"), and according to emotional levels using self-referential ("Self") and control ("Ctrl") stimuli.

Metacognition biases information seeking in assessing ambiguous news.

How do we assess the veracity of ambiguous news, and does metacognition guide our decisions to seek further information? In a controlled experiment, participants evaluated the veracity of ambiguous news and decided whether to seek extra information. Confidence in their veracity judgments did not predict accuracy, showing limited metacognitive ability when facing ambiguous news. Despite this, confidence in one's judgment was the primary driver of the demand for additional information about the news.

Congenital toxoplasmosis: Fewer clinical signs at 3 years of age over the last 15 years but stable risk of materno-fetal transmission.

Risk and severity of congenital toxoplasmosis were estimated using data from 2,455 consecutive mother/child pairs. Clinical signs at 3 years were halved in the 177 children born since 2009 compared to 1996-2008 (OR=0.49; 95% Confidence interval 0.

Accuracy of volume measurements by a clinical spirometer in multiple veterinary hospitals.

Introduction: Spirometry devices, which are components of many anaesthesia machines, are commonly used to assess lung mechanics during anaesthesia. Spirometry calibration usually adheres to manufacturer recommendations without established guidelines. Although more accurate and less variable than inbuilt spirometry in certain General Electric anaesthesia ventilators, near-patient spirometry lacks adequate evaluation.

QTL mapping provides new insights into emamectin benzoate resistance in salmon lice, Lepeophtheirus salmonis.

Background: The salmon louse (Lepeophtheirus salmonis) is a parasite of wild and farmed salmonid fish, causing huge economic damage to the commercial farming of Atlantic salmon (Salmo salar) in the northern hemisphere. The avermectin emamectin benzoate (EMB) is widely used for salmon delousing. While resistance to EMB is widespread in Atlantic populations of L.

Pressure support ventilation improves ventilation during inhalational induction of anesthesia in children: A pilot study.

Study Objective: To evaluate the impact of positive end-expiratory pressure (PEEP) with or without pressure support ventilation (PSV) on the lung volume and the ventilation distribution during inhalational induction of anesthesia in children.

Design: Prospective observational clinical pilot-study.

Setting: University Children's Hospital of Lyon, France.

Peripheral Nerve Stimulation Implantation Combining Ultrasound With Microendoscopy for Management of Chronic Neuropathic Pain: A Case Series Study.

Background: Peripheral nerve stimulation (PNS) has emerged as a minimally invasive percutaneous procedure addressing neuropathic pain. However, the percutaneous cylindrical lead ultrasound-guided implantation procedure requires expertise that limits widespread PNS utilization. To overcome these challenges, a microinvasive endoscopy device has very recently been developed, enhancing the precision of PNS implantation by providing accurate visualization of the targeted nerve.

Catch-Up Saccades in Vestibulo-Ocular Reflex Deficit: Contribution of Visual Information?

Objectives: Catch-up saccades help to compensate for loss of gaze stabilization during rapid head rotation in case of vestibular deficit. While overt saccades observed after head rotation are obviously visually guided, some of these catch-up saccades occur with shorter latency while the head is still moving, anticipating the needed final eye position. These covert saccades seem to be generated based on the integration of multisensory inputs.

Pregnancy and Infant Outcomes in Women With Multiple Sclerosis Treated With Ocrelizumab.

Background And Objectives: Ocrelizumab labeling advises contraception for women during treatment and for 6-12 months thereafter. Because pregnancies may occur during this time, it is critical to understand pregnancy and infant outcomes in women with multiple sclerosis (MS) after ocrelizumab exposure.

Methods: Pregnancy cases reported to Roche global pharmacovigilance until 12 July 2023 were analyzed.

Prevalence and characteristics of participants in 2024: findings from a general population survey in France.

Background: Dry January is a one-month alcohol abstinence challenge for the general population running since 2013 in the United Kingdom, and 2020 in France. Dry January has gained increasing popularity among the public, but studies assessing the individual characteristics associated with awareness and participation remain sparse.

Methods: Using quota sampling, a representative sample of 5,000 French adults completed an online cross-sectional survey between 8 and 17th January 2024.

Prevalence of cardiac implantable electronic device infections in Germany in 2015.

The placement of cardiovascular implantable electronic devices (CIED) comes with a risk of adverse events (AE). AE comprise complications associated with the procedure and the device. CIED infection is a severe AE.