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McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene
15 août 2025 02:00 - SFR Icat
McLeod syndrome (MLS) is an ultra-rare X-linked multisystem disorder characterized by neurological involvement and distinctive hematological features, including acanthocytosis and specific blood group antigens. The clinical picture is typically dominated by central nervous system manifestations, such as movement disorders, cognitive and psychiatric disturbances, and epilepsy, while subclinical neuromuscular involvement is common. The function of the XK protein and the disease pathophysiology...
From sex hormone decrease to hormonal treatment: impacts on cardiovascular risk with ageing
14 août 2025 02:00 - SFR Icat
Ageing plays a critical role in the deterioration of artery function and structure, and clearly represents the first cardiovascular (CV) risk factor in men but also in women. Coronary and cerebral arteries are particularly prone to atheroma, and the tissues they perfuse are particularly vulnerable to ischaemia. In both sexes, the age-related decrease in sex hormones (menopause and andropause) has deleterious effects on CV health. The extent to which hormonal supplementation can limit the CV...
Machine learning-assisted quantitative metabolomics of West African patients with advanced breast cancer
12 août 2025 02:00 - SFR Icat
In this study, we conducted a targeted quantitative metabolomic analysis of 630 metabolites in the plasma of 78 West African patients at the time of breast cancer diagnosis and prior to any treatment. Most of these patients were at an advanced stage of the disease. The data were compared with those of 79 healthy controls using a combination of several machine learning approaches and statistical analyses. The predictive models obtained with the machine learning algorithms were comparable, with...
Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families
12 août 2025 02:00 - SFR Icat
CONCLUSION: This study reports novel pathogenic variants in TTLL5 and CABP4 in patients with IRDs. These findings expand our knowledge of IRD causal genes in Moroccan patients.
The GLP-1 analogue, exendin-4, improves bone material properties and strength through a central relay in ovariectomized mice
11 août 2025 02:00 - SFR Icat
Glucagon-like peptide-1 (GLP-1) has previously been shown to be indispensable for optimal bone strength by acting at the bone material level. However, it was not fully clear whether the effects of GLP-1 were mediated by direct or indirect actions on bone cells. In the present study, we were unable to demonstrate the expression of the GLP-1 receptor (GLP-1r) in bone tissue at the gene expression level using qPCR and in situ hybridization, or at the protein level. Furthermore, the peripheral...
Towards methylation-based redefinition of TAL1 positive T-cell acute lymphoblastic leukaemia (T-ALL)
9 août 2025 02:00 - SFR Icat
TAL1 is one of the most frequently dysregulated oncogenes in T-cell Acute Lymphoblastic Leukaemia (T-ALL). However, the precise frequency and prognostic impact associated with its dysregulation remains unclear and is confounded by TAL1's diverse dysregulation mechanisms. TAL1 dysregulation is detected by TAL1 transcript quantification, though this technique may be subject to interference by TAL1 transcripts deriving from residual haematological cells that physiologically express high levels of...
MtDNA copy number enrichment is associated with poor prognosis and eosinophilic morphology in clear cell renal cell carcinoma
7 août 2025 02:00 - SFR Icat
Clear cell renal cell carcinoma (ccRCC) is the most common renal malignancy. However, the combined clinical and biological scores commonly used to predict the clinical outcome are imperfect and need improvement. The main goal of our study was to assess the effect of mtDNA genetics on the prognosis of ccRCC patients and to explore morphologic correlation. Mitochondrial DNA copy number (mtDNAcn) variation between tumor and paired matched healthy kidney tissue was assessed by real-time quantitative...
Response to letter Re "Morphine and metformin impact immunotherapy benefit in patients with NSCLC: Results of the real-world study IFCT-1502 CLINIVO-SNDS"
5 août 2025 02:00 - SFR Icat
No abstract
Association of positive airway pressure adherence with use of antihypertensive drugs in patients with sleep apnoea
5 août 2025 02:00 - SFR Icat
CONCLUSION: PAP use is not associated with a change in OAHD score after 1 year.
Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study
2 août 2025 02:00 - SFR Icat
CONCLUSION: This study confirms SOD1 variants low frequency in the French population and highlights the more rapid disease progression observed in patients carrying C9orf72 expansions. These findings underscore the importance of systematic genetic screening at diagnosis.
Deep-learning model for embryo selection using time-lapse imaging of matched high-quality embryos
1 août 2025 02:00 - SFR Icat
Time-lapse imaging and deep-learning algorithms are promising tools to assess the most viable embryos and improve embryo selection in IVF laboratories. Here, we developed and validated a deep learning model based on self-supervised contrastive learning. The model was developed with a new approach based on matched KID (Known Implantation Data) embryos derived from the same cohort of a stimulation cycle, both judged to be of good quality according to classical morphological criteria and...
Association between mycophenolic acid treatment and infection with specific strains of Pneumocystis jirovecii in solid organ transplant recipients in France and Switzerland: a multicentre, retrospective, cross-sectional study
1 août 2025 02:00 - SFR Icat
BACKGROUND: Pneumocystis pneumonia (PCP) case clusters involving solid organ transplant (SOT) recipients have been reported worldwide. Mycophenolic acid, an immunosuppressant used to prevent rejection in SOT recipients that targets the inosine 5'-monophosphate dehydrogenase (IMPDH) protein, has been hypothesised to exert selective pressure on Pneumocystis jirovecii, with the missense mutation G1020A (Ala261Thr) in the impdh gene a possible marker of such selective pressure. The aim of this study...
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy
1 août 2025 02:00 - SFR Icat
BACKGROUND: Autosomal recessive mutations in the SH3TC2 gene cause Charcot-Marie-Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.
Clusterin and pentraxin 3 are markers of severity during febrile neutropenia in adults with haematological malignancies receiving intensive chemotherapy
29 juil. 2025 02:00 - SFR Icat
The identification of predictive biomarkers of severity can improve patient management because febrile neutropenia can be associated with significant morbidity and mortality. We prospectively studied pentraxin 3 (PTX3), a soluble innate immunity receptor, and clusterin (CLU), a chaperone protein that binds extracellular histones during sepsis, in patients experiencing febrile neutropenia after intensive treatment for haematological malignancies. One hundred and forty-three adult patients were...
Opensource semi-solid 3D printer designed for oral drug production in hospital pharmacies
27 juil. 2025 02:00 - SFR Icat
Three-dimensional (3D) printing is a manufacturing technique with a growing interest in drug production, especially via semi-solid extrusion (SSE) where a material lying between a solid and a liquid is deposited to create the desired form. However, accessibility to SSE 3D printer is limited. This study aimed to develop and validate a SSE 3D printer equipped with an in-process weighing system. As a proof-of-concept, vaseline and low acyl gellan gum containing levetiracetam (LVT) were used to...