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Tofersen Treatment in <em>SOD1</em>-ALS: Real-World Evidence from a Retrospective Multicenter Study in France (FORSLA Study)
4 août 2026 02:00 - SFR Icat
CONCLUSION: Tofersen seems to be associated with slower functional decline and reduced NfL levels. While limitations of retrospective design and ALSFRS-R sensitivity must be acknowledged, these findings provide real-world evidence suggesting a clinical benefit of Tofersen.
Non-invasive multiparametric characterization of essential thrombocythemia, premyelofibrosis, and overt myelofibrosis
4 août 2026 02:00 - SFR Icat
Among myeloproliferative neoplasms (MPN), prefibrotic myelofibrosis (preMF) was defined as a distinct entity from essential thrombocythemia (ET) and primary overt myelofibrosis (PMF) since the 2016 revision of the World Health Organization (WHO) classification, while precise characterization may be difficult in some instances. In that context, several non-invasive parameters have shown potential to differentiate ET from PMF. The aim of the study was to prospectively evaluate non-invasive...
Renal Resistive Index Responsiveness to a Mean Arterial Pressure Test As a Guide for Mean Arterial Pressure Target in the Early Phase of Septic Shock: A Physiological Study
3 août 2026 02:00 - SFR Icat
CONCLUSIONS: In early septic shock, a decrease in RRI during a MAP test did not identify patients who would benefit from higher MAP targets to improve renal function. Conversely, the absence of an RRI decrease during the MAP test may help identify patients in whom increasing MAP is associated with increased urine output.
What are the microbial burden and potential pathogens on hospital surfaces before and after cleaning?
30 juil. 2026 02:00 - SFR Icat
Healthcare-associated infections (HCAIs) remain a significant challenge in hospitals, with environmental contamination increasingly recognized as a contributing factor. However, the relationship between surface microbial burden, pathogen presence, and the effectiveness of cleaning interventions remains incompletely understood. This study aimed to describe the microbial contamination of hospital surfaces before and after cleaning, evaluate the impact of an educational intervention targeting...
Rational Use of Herbal Products in Pediatric Patients Treated With Anticancer Drugs in the European Union
29 juil. 2026 02:00 - SFR Icat
CONCLUSION: Some medicinal plants may be cautiously considered in pediatric oncology, but the risks of pharmacokinetic and pharmacodynamic interactions are substantial. This study proposes a shortlist of plants that may be considered and HMPs with potentially good benefit-risk ratios. These findings should not be interpreted as therapeutic recommendations.
Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel <em>OPA1</em> Deletion
28 juil. 2026 02:00 - SFR Icat
CONCLUSION: The identification of a large OPA1 deletion in this DOA family illustrates the critical importance of screening for large genomic rearrangements in DOA genes and confirms the high intrafamilial phenotypic variability while correlating BCVA with RNFL and GCL thickness.
Temporal Evolution of Urinary Microbiology Between Acute Obstructive Pyelonephritis and Delayed Ureteroscopy
27 juil. 2026 02:00 - SFR Icat
CONCLUSION: Concordance between BUCap, PUCap, and poBUC was limited. These findings support the routine use of poBUC before delayed ureteroscopy, as microbiological findings may substantially differ from those observed during the acute infectious episode.
PCR-confirmed Buruli ulcer incidence over a 16-year period in Benin: a nationwide, retrospective, observational study
24 juil. 2026 02:00 - SFR Icat
BACKGROUND: Buruli ulcer is a neglected tropical disease caused by Mycobacterium ulcerans, primarily affecting rural populations in west and central Africa. Between 2004 and 2023, reported Buruli ulcer cases declined sharply across the continent from 5871 to 1573. Determining whether this decline reflects real epidemiological change or surveillance artifacts is crucial for global Buruli ulcer control. We aimed to quantify the incidence of Buruli ulcer in Benin, to analyse observed...
Outcomes and Predictors of Treatment Response in Patients With Pure Lupus Membranous Nephropathy
24 juil. 2026 02:00 - SFR Icat
CONCLUSION: In patients with first-onset PLMN, 12-month renal response rates did not differ significantly among immunosuppressive regimens despite variation in treatment duration and steroid exposure. Anti-U1RNP antibodies and absence of extrarenal involvement were associated with a higher risk of treatment failure. Anti-CD20-based strategies may be a promising therapeutic approach.
GFCO national recommendations on the use of liquid biopsy for circulating tumor DNA analysis in oncology
23 juil. 2026 02:00 - SFR Icat
CONCLUSION: These GFCO recommendations provide a standardized framework for the use of liquid biopsy in oncology in France. Regular updates will be necessary to adapt to the rapid evolution of the technology.
Tripartite ER-mitochondria-lipid droplets contact sites control adipocyte metabolic flexibility
22 juil. 2026 02:00 - SFR Icat
Adipocyte dysfunction is a major driver of obesity-associated cardiometabolic disease, underscoring the need to understand how lipid storage and mobilization are regulated and disrupted. The ER-anchored protein Seipin governs lipid droplet (LD) biogenesis and ER-LD and ER-mitochondria (MAM) contacts, and its loss impairs calcium transfer and causes lipodystrophy. Here, we investigated whether Seipin coordinates MAM and ER-LD remodeling during adipocyte lipid handling. In subcutaneous adipose...
Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort
22 juil. 2026 02:00 - SFR Icat
Primary mitochondrial diseases are a heterogeneous group of neurometabolic disorders recognized as the most common metabolic genetic diseases. They manifest at any age, affecting any tissue or organ, especially those with high energy demands, and are caused by pathogenic variants in both mitochondrial and nuclear genomes. Here, we aimed to describe the genetic spectrum of a Tunisian pediatric cohort with suspected mitochondrial diseases. We recruited 47 unrelated families who underwent exome...
Eczema in inborn errors of immunity with atopy: frequency, timing, phenotypic clustering
22 juil. 2026 02:00 - SFR Icat
CONCLUSION: Eczema is a common, early IEIs-A feature, often preceding infections by years.While 38.4% of IEIs-A patients with eczema fulfilled the UK Working Party diagnostic criteria for AD, some clinical pictures may differ from that of classic AD. At a time when systemic AD treatments are rapidly advancing in pediatrics, recognizing these patterns to identify IEIs-A patients could refine diagnostic strategies, improve IEI detection among children with eczema, shorten the time to IEIs-A...
Beyond the target: new dimensions of antifungal action
21 juil. 2026 02:00 - SFR Icat
No abstract
Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions
20 juil. 2026 02:00 - SFR Icat
CONCLUSIONS: Given the complexity and rarity of CAIS, a centralized approach referring patients to centres with expertise in the management of the condition and the development of a clinical practice expert opinion for the management of CAIS beyond the paediatric age could help address current gaps, particularly in the transition from paediatric to adult care. All participating experts emphasized the need to develop such document to optimize CAIS care.