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Publications

How Congenital Skin Lesions Are Perceived by Health Professionals in the Delivery Room-The Reconnaissance Study
7 oct. 2025 02:00 - SFR Icat
CONCLUSIONS: We confirm that HPDR have a lack of knowledge regarding CSL and difficulties managing these lesions. This lack of knowledge can have consequences for patients and parents, and for HPDR themselves. Body image and the potential physical and psychological impacts of visible lesions are increasingly recognized as critical aspects of care in dermatology. HPDR report a lack of knowledge about CSLs and a desire for training to be able to support families.
Metformin-related fatalities - The importance of combining forensic toxicology and postmortem biochemistry analyses in death involving antidiabetics
5 oct. 2025 02:00 - SFR Icat
Metformin is the most commonly used drug in the treatment of type 2 diabetes mellitus and appears as a promising drug for several other conditions. While generally well-tolerated and relatively safe, metformin can cause serious side effects, and intoxication cases have been reported. Classically, the severity of metformin intoxications is better assessed by measuring lactate blood concentration and/or blood pH than by directly determining blood drug concentration. However, such an approach is...
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
4 oct. 2025 02:00 - SFR Icat
CONCLUSIONS: As a first line test for ID diagnosis, WGS (including for solo situations) proved to be more effective than the reference strategy, in the context of real-life hospital settings in France.
Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features
2 oct. 2025 02:00 - SFR Icat
CONCLUSIONS: Camptocormia represents a relatively frequent and distinct phenotypic variant of FSHD, particularly in older adults. Conversely, FSHD is a common cause of camptocormia due to axial myopathy. These findings expand the clinical spectrum of FSHD and underscore the importance of considering FSHD in the differential diagnosis of camptocormia, even in the absence of typical clinical signs of FSHD. Muscle imaging may assist in identifying FSHD-associated camptocormia.
Social and occupational factors are associated with musculoskeletal pain prevalence in the general population: a population-based cohort study
1 oct. 2025 02:00 - SFR Icat
CONCLUSION: MP impose a substantial burden on the French population, particularly among individuals with physically demanding jobs and low education levels. These findings highlight the paradox of physical activity associated with MP.
Real-world analysis of HER2-ultralow in HR+/HER2- metastatic breast cancer: prevalence and first-line chemotherapy outcomes
1 oct. 2025 02:00 - SFR Icat
CONCLUSION: HER2-ultralow accounts for 15.6% of HR+/HER2-negative mBC cases and demonstrates outcomes comparable to HER2-low with SOC chemotherapy.
Psychosocial work factors as mediators in the associations of organisational changes with poor psychological well-being: a prospective study using the national French working conditions survey
1 oct. 2025 02:00 - SFR Icat
CONCLUSIONS: Preventive measures focusing on organisational changes may contribute to improve the psychosocial work environment and mental health at work.
A Frozen Elephant Trunk Technique to Reduce Circulatory Arrest Time in Hybrid Aortic Arch for Acute Aortic Dissection: Early and Midterm Outcomes in a Multicentric Cohort of 153 Patients
30 sept. 2025 02:00 - SFR Icat
CONCLUSIONS: The SD-FET technique allows hybrid arch surgery to be performed without cooling and is associated with a lower incidence of the combined criteria of death and/or neurological events.
Optimization of the Genome Editing CRISPR-Cas9 Technology in Scedosporium apiospermum
29 sept. 2025 02:00 - SFR Icat
Scedosporium species are opportunistic pathogens causing a large variety of human infections. To date, there is limited information on the pathogenic mechanisms of these fungi, partly because of the limited number of genetic tools available. Here, the CRISPR-Cas9 technology, which provided promising results for functional genomic studies in filamentous fungi, was optimized for Scedosporium species using in vitro assembled Cas9 ribonucleoprotein (RNP) complexes. In these fungi, functional genomic...
Allergen Chip Challenge: a nationwide open database supporting allergy prediction algorithms
28 sept. 2025 02:00 - SFR Icat
CONCLUSIONS: We present a nationwide open allergy database designed to enable the development of predictive algorithms. This scalable framework, integrating clinical data with ML techniques paves the way for data-driven allergen chip use and interpretation by allergists.
Comparison of tetrabenazine, tiapride and olanzapine in Huntington's disease: a one-year French randomized multicenter study (Neuro-HD)
27 sept. 2025 02:00 - SFR Icat
CONCLUSION: Olanzapine improved chorea, behavior, and irritability, although with a slight increase in rigidity. Tetrabenazine confirmed efficacy for chorea but was associated with mood disorders and drowsiness, while tiapride reduced irritability. These results underscore the importance of symptom-specific, individualized treatment.
Positive Airway Pressure-Related Aerophagia in Obstructive Sleep Apnea: Results from the InterfaceVent Real-Life Study
27 sept. 2025 02:00 - SFR Icat
Background: Continuous positive airway pressure (CPAP) effectiveness can be compromised by adverse effects. Despite its potential impact on adherence and sleepiness, aerophagia remains under-recognized and poorly characterized. This ancillary analysis of the InterfaceVent study aimed to identify risk factors for aerophagia in a large real-life cohort of CPAP-treated patients and to assess its association with both CPAP adherence and sleepiness. Methods: InterfaceVent was a prospective,...
Long term impact of the SARS-CoV2 pandemic on the acquisition rate of extended-spectrum beta-lactamase-producing Enterobacteriaceae in a medical intensive care unit
26 sept. 2025 02:00 - SFR Icat
CONCLUSIONS: In our ICU, ESBL-E acquisition increased during the COVID period. Multivariate analysis linked it to length of stay, ESBL-E prevalence, mechanical ventilation >10 days, and hemodialysis. Further studies are needed to assess post-COVID trends.
METHOFRACT, a methotrexate osteopathy multicentre cohort study
25 sept. 2025 02:00 - SFR Icat
Methotrexate-induced osteopathy (MTX-IO) is a rare condition typically involving the lower limbs, especially tibia or foot fractures, among patients with well-controlled rheumatoid arthritis (RA) or psoriatic arthritis (PsA). This study aimed to identify the affected population, describe fracture characteristics and identify risk factors for poor clinical outcome. A multicentre retrospective study included patients with MTX-IO diagnosed by bone specialists or identified through French...
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death
25 sept. 2025 02:00 - SFR Icat
The neuropathy Charcot-Marie-Tooth (CMT) is an incurable disease with a lack of genotype-phenotype correlation. Variants of the mitochondrial protein mitofusin 2 (MFN2), a large GTPase that mediates mitochondrial fusion, are responsible for the subtype CMT type 2A (CMT2A). Interestingly, beyond membrane remodelling, additional roles of MFN2 have been identified, expanding the possibilities to explore its involvement in disease. Here, we investigated how cellular functions of MFN2 are associated...