Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.

Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or acquired wild-type ATTR form. Genetic testing is critical for determining a hereditary predisposition and subsequently initiating appropriate family screening.

Strengthening the Skin Barrier by Using a Late Cornified Envelope 6A-Derived Biomimetic Peptide.

Changes in the expression of cornified envelope (CE) components are a hallmark of numerous pathological skin conditions and aging, underlying the importance of this stratum corneum structure in the homeostasis of the epidermal barrier. We performed a detailed characterisation of LCE6A, a member of the Late Cornified Envelope protein family. Immunohistochemical and immunoblot experiments confirmed that LCE6A is expressed late during epidermal differentiation.

Psychometric properties of the French Infant-Toddler Working Alliance Inventory Short version (IT-WAI-S).

Objective: Therapeutic alliance has been little investigated in infant and toddler therapy, with no tools specifically adapted to this population. However, we have developed the Infant-Toddler Working Alliance Inventory-Short form (IT-WAI-S) which is based on the Working Alliance Inventory. The aim of this study was to assess the psychometric properties of this original French tool, in its two versions: for parent (IT-WAI-SP) and for therapist (IT-WAI-STh).

Noninvasive ventilation on reintubation in patients with obesity and hypoxemic respiratory failure following abdominal surgery: a post hoc analysis of a randomized clinical trial.

Purpose: Although noninvasive ventilation (NIV) may reduce reintubation in patients with acute hypoxemic respiratory failure following abdominal surgery, this strategy has not been specifically assessed in patients with obesity.

Methods: We conducted a post hoc analysis of a multicenter randomized controlled trial comparing NIV delivered via facial mask to standard oxygen therapy among patients with obesity and acute hypoxemic respiratory failure within 7 days after abdominal surgery. The primary outcome was reintubation within 7 days.

A population pharmacokinetic model for sertraline in women during the perinatal period-A contribution from the ConcePTION project.

Aims: Sertraline is frequently prescribed for mental health conditions in both pregnant and breastfeeding women. According to the limited available data, only small amounts of sertraline are transferred into human milk, yet with a large amount of unexplained interindividual variability. This study aimed to develop a population pharmacokinetic (popPK) model to describe the pharmacokinetics of sertraline during the perinatal period and explain interindividual variability.

Exploring the impact of the interthalamic adhesion on human cognition: insights from healthy subjects and thalamic stroke patients.

The interthalamic adhesion (IA) is a structure that connects the median borders of both thalami. Its anatomical variants and functions remain poorly studied. The main objective of this study was to explore the role of the IA on cognition.

Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients.

In paediatric oncology, genomics raises new ethical, legal and psychological issues, as somatic and constitutional situations intersect throughout the care pathway. The discovery of potential predisposition in this context is sometimes carried out outside the usual framework. This article focuses on the views of children, adolescents, and young adults (AYA) with cancer and their parents about their experience with genomic testing.

Pediatric intensive care unit follow-up: Thinking before acting.

Objective: It is now well established that post-intensive care syndrome is frequent in critically ill children after discharge from the pediatric intensive care unit (PICU). Nevertheless, post-intensive care follow-up is highly heterogenous worldwide and is not considered routine care in many countries. The purpose of this viewpoint was to report the reflections of the French PICU society working group on how to implement post-PICU follow-up.

Hepatic venous pressure gradient predicts risk of hepatic decompensation and liver-related mortality in patients with MASLD.

Background & Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a leading cause of advanced chronic liver disease (ACLD). Portal hypertension drives hepatic decompensation and is best diagnosed by hepatic venous pressure gradient (HVPG) measurement. Here, we investigate the prognostic value of HVPG in MASLD-related compensated ACLD (MASLD-cACLD).

Study of the cellular and humoral immune responses to SARS-CoV-2 vaccination.

Our understanding of cellular immunity in response to COVID-19 infection or vaccination is limited because of less commonly used techniques. We investigated both the cellular and humoral immune responses before and after the administration of a third dose of the SARS-CoV-2 vaccine among a group of healthcare workers. Cellular immunity was evaluated using the VIDAS interferon-gamma (IFNγ) RUO test, which enables automated measurement of IFNγ levels after stimulating peripheral blood lymphocytes.

Robust thalamic nuclei segmentation from T1-weighted MRI using polynomial intensity transformation.

Accurate segmentation of thalamic nuclei, crucial for understanding their role in healthy cognition and in pathologies, is challenging to achieve on standard T1-weighted (T1w) magnetic resonance imaging (MRI) due to poor image contrast. White-matter-nulled (WMn) MRI sequences improve intrathalamic contrast but are not part of clinical protocols or extant databases. In this study, we introduce histogram-based polynomial synthesis (HIPS), a fast preprocessing transform step that synthesizes WMn-like image contrast from standard T1w MRI using a polynomial approximation for intensity transformation.

The C-type lectin DCIR contributes to the immune response and pathogenesis of colorectal cancer.

Development and progression of malignancies are accompanied and influenced by alterations in the surrounding immune microenvironment. Understanding the cellular and molecular interactions between immune cells and cancer cells has not only provided important fundamental insights into the disease, but has also led to the development of new immunotherapies. The C-type lectin Dendritic Cell ImmunoReceptor (DCIR) is primarily expressed by myeloid cells and is an important regulator of immune homeostasis, as demonstrated in various autoimmune, infectious and inflammatory contexts.

Diagnosis and treatment of Tropheryma whipplei infection in patients with inflammatory rheumatic disease: Data from the French Tw-IRD registry.

Objectives: Tropheryma whipplei infection can manifest as inflammatory joint symptoms, which can lead to misdiagnosis of inflammatory rheumatic disease and the use of disease-modifying antirheumatic drugs. We investigated the impact of diagnosis and treatment of Tropheryma whipplei infection in patients with inflammatory rheumatic disease.

Methods: We initiated a registry including patients with disease-modifying antirheumatic drugs-treated inflammatory rheumatic disease who were subsequently diagnosed with Tropheryma whipplei infection.

Effectiveness of SplashGuard Caregiver prototype in reducing the risk of aerosol transmission in intensive care unit rooms of SARS-CoV-2 patients: a prospective and simulation study.

Background: The contagiousness of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is known to be linked to the emission of bioaerosols. Thus, aerosol-generating procedures (AGPs) could increase the risk of infection among healthcare workers (HCWs).

Aim: To investigate the impact of an aerosol protection box, the SplashGuard Caregiver (SGGC) with suction system, by direct analysis of the presence of viral particles after an AGP, and by using the computational fluid dynamics (CFD) simulation method.

Perinatal foodborne titanium dioxide exposure-mediated dysbiosis predisposes mice to develop colitis through life.

Background: Perinatal exposure to titanium dioxide (TiO), as a foodborne particle, may influence the intestinal barrier function and the susceptibility to develop inflammatory bowel disease (IBD) later in life. Here, we investigate the impact of perinatal foodborne TiO exposure on the intestinal mucosal function and the susceptibility to develop IBD-associated colitis. Pregnant and lactating mother mice were exposed to TiO until pups weaning and the gut microbiota and intestinal barrier function of their offspring was assessed at day 30 post-birth (weaning) and at adult age (50 days).

Stent-assisted Woven EndoBridge device for the treatment of intracranial aneurysms: an international multicenter study.

Objective: The Woven EndoBridge (WEB) device is an intrasaccular flow disruptor designed for wide-necked bifurcation aneurysms. These aneurysms may require the use of a concomitant stent. The objective of this study was to determine the clinical and radiological outcomes of patients undergoing stent-assisted WEB treatment.

Predicting survival in patients with 'non-high-risk' acute variceal bleeding receiving β-blockers+ligation to prevent re-bleeding.

Background & Aims: Pre-emptive transjugular intrahepatic portosystemic shunt (TIPS) is the treatment of choice for high-risk acute variceal bleeding (AVB; i.e., Child-Turcotte-Pugh [CTP] B8-9+active bleeding/C10-13).

Feasibility, Safety and Reliability of Surgeon-Directed Transcranial Motor Evoked Potentials Monitoring in Scoliosis Surgery.

(1) Background: Neuromonitoring is essential in corrective surgery for scoliosis. Our aim was to assess the feasibility, safety and reliability of "surgeon-directed" intraoperative monitoring transcranial motor evoked potentials (MEP) of patients. (2) Methods: A retrospective single-center study of a cohort of 190 scoliosis surgeries, monitored by NIM ECLIPSE (Medtronic), between 2017 and 2021.