Regulation of UCP1 expression by PPARα and pemafibrate in human beige adipocytes.

Aims: Thermogenic adipocytes are able to dissipate energy as heat from lipids and carbohydrates through enhanced uncoupled respiration, due to UCP1 activity. PPAR family of transcription factors plays an important role in adipocyte biology. The purpose of this work was to characterize the role of PPARα and pemafibrate in the control of thermogenic adipocyte formation and function.

Biomechanical assessment of ligament maturation after arthroscopic ligament reconstruction of the anterior talofibular ligament.

Background: Many techniques have been described for lateral ankle ligament reconstruction. Although the biomechanical properties of gracilis tendons are different from those of ligaments, the use of a gracilis tendon autograft is a popular option for anatomical reconstruction. Graft maturation and the biomechanical processes over time remain unclear.

Major role of dolutegravir in the emergence of the S147G integrase resistance mutation.

Background: The S147G mutation is associated with high-level resistance to the integrase strand transfer inhibitor (INSTI) elvitegravir. In several poorly documented cases, it was also selected in patients on dolutegravir. Given the widespread use of dolutegravir, further studies of S147G are required.

Efficacy and safety of the PHIL embolic agent in the treatment of intracranial dural arteriovenous fistulas: results of the PHIL-dAVF study.

Background And Purpose: Embolization is the first-line treatment for dural arteriovenous fistulas (dAVF). The precipitating hydrophobic injectable liquid (PHIL) embolic agent is a non-adhesive copolymer with specific features and endovascular behavior. This study assessed its safety and efficacy in a prospective real-life cohort.

Left ventricular diastolic dysfunction is prevalent but not associated with mortality in patients with septic shock.

Purpose: Prognostic impact of left ventricular diastolic dysfunction (LVDD) in septic shock patients has not been determined using current diagnostic guidelines. We assessed the relation between LVDD during the first 3 days following intensive care unit (ICU) admission for septic shock and Day-28 mortality.

Methods: This prospective, multicenter, observational study enrolled 402 patients (age: 63 ± 13 year; 59% male; SAPS II: 59 ± 20; SOFA: 9.

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.

Cerebrotendinous xanthomatosis: a literature review and case study.

Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX. Early diagnosis is essential to improve patient outcomes.

Long-Term Clinical and Biological Prognostic Factors of Anti-NMDA Receptor Encephalitis in Children.

Background And Objectives: Anti-NMDAR encephalitis (NMDARE) is a severe neurologic condition, and recently, the NMDAR Encephalitis One-Year Functional Status (NEOS) score has emerged as a 1-year prognostic tool. This study aimed to evaluate NEOS score and biomarker (neurofilament light chains [NfL], total-Tau protein, glial fibrillary acidic protein, and serum cytokines) correlation with modified Rankin Scale (mRS), cognitive impairment, and clinical recovery in pediatric NMDARE over 2 years.

Methods: In this French multicenter observational study, 104 pediatric patients with NMDARE were followed for a minimum of 2 years.

Specifications and functional impact of a self-triggered grasp neuroprosthesis developed to restore prehension in hemiparetic post-stroke subjects.

Background: Stroke is the leading cause of acquired motor deficiencies in adults. Restoring prehension abilities is challenging for individuals who have not recovered active hand opening capacities after their rehabilitation. Self-triggered functional electrical stimulation applied to finger extensor muscles to restore grasping abilities in daily life is called grasp neuroprosthesis (GNP) and remains poorly accessible to the post-stroke population.

Flow-diverting stents for the treatment of unruptured distal anterior cerebral artery aneurysms: analysis of the CRETA Registry.

Background: Data about the safety and the efficacy of flow diversion for distal anterior cerebral artery (DACA) aneurysms are limited. We present the largest multicenter analysis evaluating the outcomes of flow diversion in unruptured DACA aneurysm treatment.

Methods: Databases from 39 centers were retrospectively reviewed for unruptured DACA aneurysms treated with flow-diverting stents.

Hereditary angioedema in children: Review and practical perspective for clinical management.

Background: Hereditary angioedema (HAE) in children has specific features and requires multidisciplinary management.

Methods: We performed a literature search and underwent in-depth discussions to provide practical tools for physicians.

Results: HAE is a rare, life-threatening genetic disorder.

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.

Phenotypic and epigenetic heterogeneity in FGFR2-fused glial and glioneuronal tumours.

Aims: FGFR-fused central nervous system (CNS) tumours are rare and are usually within the glioneuronal and neuronal tumours or the paediatric-type diffuse low-grade glioma spectrum. Among this spectrum, FGFR2 fusion has been documented in tumours classified by DNA-methylation profiling as polymorphous low-grade neuroepithelial tumours of the young (PLNTY), a recently described tumour type. However, FGFR2 fusions have also been reported in glioneuronal tumours, highlighting the overlapping diagnostic criteria and challenges.

Final Results of the GRECCAR-6 Trial on Waiting Period Following Neoadjuvant Radiochemotherapy for Locally Advanced Rectal Cancer: 5 Years of Follow-up.

Background: The potential oncological benefit of extending the waiting period between neoadjuvant radiochemotherapy and surgical resection for rectal cancer is debated.

Objective: To evaluate the impact of prolonging this waiting period on the 5-year oncological prognosis and 2-year functional result of locally advanced rectal adenocarcinoma.

Design: Phase III, multicenter, randomized, open-label, parallel-group, controlled trial.

3D external shape analysis and barycentremetry can provide early signs of progression in adolescent idiopathic scoliosis.

Purpose: Our objective was to analysis the barycentremetry, obtained from the external envelope reconstruction of biplanar radiographs, in adolescent idiopathic scoliosis (AIS) and to determine whether assessing would help predict the distinction between progressive and stable AIS at the early stage.

Methods: A retrospective study with a multicentre cohort of 205 AIS was conducted. All AIS underwent a biplanar X-ray between 2013 and 2020.

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.

Biologics in congenital ichthyosis: are they effective?

Background: Congenital ichthyoses (CI) comprise a heterogeneous group of genetic diseases requiring lifelong treatment and having a major effect on quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in CI raised the possibility of repurposing available biologics.

Comparison of Dual Monoclonal Antibody Therapies for COVID-19 Evolution: A Multicentric Retrospective Study.

Background: Neutralizing antibodies targeting the SARS-CoV-2 Spike protein reduce COVID-19-related risk of hospitalization, particularly in high-risk individuals. The COCOPREV-R study aimed to evaluate and compare clinical outcomes in high-risk SARS-CoV-2 patients treated with dual monoclonal antibody therapies and to identify associated virological factors.

Methods: The COCOPREV-R study retrospectively collected real-world data from high-risk patients receiving Bamlanivimab/Etesevimab or Casirivimab/Imdevimab dual monoclonal antibody therapies (22 February 2021 to 15 June 2021).