Index
>Publications

Publications

Editorial: The blue frontier: cancer research meets the diversity of marine chemistry and biology, new challenges, and prospects
21 févr. 2025 01:00 - SFR Icat
No abstract
Heart Rate response and cardiovascular risk during OSA: an easy biomarker derived from pulse oximetry
20 févr. 2025 01:00 - SFR Icat
CONCLUSIONS: ΔHR(oxi) could constitute a reliable and easy to measure biomarker for stratifying CV risk and predicting CV benefit of PAP in OSA.
Insights into the Clinical Prognosis of High-grade Appendiceal Mucinous Neoplasms
20 févr. 2025 01:00 - SFR Icat
High-grade appendiceal mucinous neoplasm (HAMN) is used to describe a rare epithelial neoplasm of the appendix characterized by pushing-type invasion and high-grade cytologic atypia. Its implications regarding lymph node spread and the necessity of right colectomy are currently debate. The objective of the present study was to assess the clinicopathologic characteristics, the risk of lymph node and peritoneal metastasis, and long-term outcomes of patients diagnosed as HAMN in comparison to...
Reply
20 févr. 2025 01:00 - SFR Icat
No abstract
Social cognition profile in early Huntington disease: Insight from neuropsychological assessment and structural neuroimaging
20 févr. 2025 01:00 - SFR Icat
CONCLUSIONS: This research underscores the importance of integrating social cognition evaluations into the clinical assessment of HD and hints at a complex interplay between these deficits and the broader neuropsychological impact of the disease. The results thus advocate for a more holistic approach to understanding and managing HD, considering the potential interdependencies between social cognition and other cognitive functions.
Pregnancy and neonatal outcomes in women with GCK-MODY: an observational study based on standardised insulin modalities
19 févr. 2025 01:00 - SFR Icat
CONCLUSIONS/INTERPRETATION: In our study, the rate of LGA primarily depended on the fetal GCK genotype rather than the treatment strategy or glycaemic management. Our results suggest that a standardised strategy based on ultrasound monitoring of fetal growth and glycaemic safety thresholds, leading to delayed insulin initiation, offers a good fetal prognosis and minimises the risk of maternal hypoglycaemia.
AMI-Sleep: protocol for a prospective study of sleep-disordered breathing/sleep apnoea syndrome and incident cardiovascular events after acute myocardial infarction
18 févr. 2025 01:00 - SFR Icat
INTRODUCTION: Sleep-disordered breathing (SDB) and the related clinical syndrome, sleep apnoea syndrome (SAS), are highly prevalent in patients with ischaemic heart disease and often remain undiagnosed. The AMI-Sleep study will describe its prevalence in patients with acute myocardial infarction (AMI) and assess the independent contribution of the type and severity of SDB/SAS to subsequent incident cardiovascular events and mortality.
Biallelic <em>NDUFA13</em> variants lead to a neurodevelopmental phenotype with gradual neurological impairment
18 févr. 2025 01:00 - SFR Icat
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two families. With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13-related diseases remains unclear. We report 10 additional affected individuals from nine independent families,...
Rectourethral fistulas after treatment for prostate carcinoma: Update and new management algorithm
14 févr. 2025 01:00 - SFR Icat
Rectourethral fistula (RUF) is associated with poor quality of life related to urinary functional symptoms (pneumaturia, fecaluria, urine passing through the rectum) or urinary tract infections (upper or lower, often recurrent). Most are iatrogenic, occurring after surgery such as radical prostatectomy, where their prevalence ranges from 0.03 in various series. RUF can also occur after radiation therapy administered for prostate cancer. Management of RUF is complex and depends on whether the...
Press review
13 févr. 2025 01:00 - SFR Icat
No abstract
Effort/reward imbalance and comorbidities burden in academic and professional careers of patients with narcolepsy type 1
13 févr. 2025 01:00 - SFR Icat
CONCLUSIONS: Most patients with NT1 manage to achieve their careers goals, but at the cost of an effort/reward imbalance. Early diagnosis might allow a better adjustment to the disease. The strong impact of psycho-cognitive comorbidities on professional outcomes stresses the need to consider psycho-cognitivo-social dimensions in patient care.
CAR+ T-Cell Lymphoma after Cilta-cel Therapy for Relapsed or Refractory Myeloma
12 févr. 2025 01:00 - SFR Icat
We describe two patients in whom malignant monoclonal T-cell lymphoproliferation developed after administration of chimeric antigen receptor (CAR) T-cell therapy with ciltacabtagene autoleucel (cilta-cel) in the phase 3 CARTITUDE-4 trial. Monoclonal T cells from both patients had detectable CAR transgene expression and integration. The clinicogenomic features of these CAR transgenic T-cell lymphoproliferative neoplasms suggest that multiple potential intrinsic or extrinsic factors (or both)...
Criteria for home treatment of patients with acute pulmonary embolism (the EARTH rule): an international Delphi consensus study
11 févr. 2025 01:00 - SFR Icat
The safety of home treatment for patients with low-risk acute pulmonary embolism (PE) has been confirmed in several studies; however, these studies have used varying triaging criteria and outcomes, leading to inconsistencies in defining safe discharge parameters. This study aimed to identify adverse outcomes that make home discharge inappropriate, their timeframe, and clinical criteria indicating high risk for such events. Following a systematic literature review, an international expert panel...
Mitofusin 2 displays fusion-independent roles in proteostasis surveillance
10 févr. 2025 01:00 - SFR Icat
Mitochondria are essential organelles and their functional state dictates cellular proteostasis. However, little is known about the molecular gatekeepers involved, especially in absence of external stress. Here we identify a role of MFN2 in quality control independent of its function in organellar shape remodeling. MFN2 ablation alters the cellular proteome, marked for example by decreased levels of the import machinery and accumulation of the kinase PINK1. Moreover, MFN2 interacts with the...
ANCA-associated vasculitides: what nephrologists need to know
7 févr. 2025 01:00 - SFR Icat
Renal involvement in ANCA vasculitides (AAV) is frequent and often severe, leading to end-stage kidney disease either immediately, in the follow-up or after episodes of relapses. Renal involvement is associated with other organ involvement in granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (PAM), but may also be isolated in vasculitis limited to the kidney. It is less common in eosinophilic granulomatosis with polyangiitis (GEPA). The classical clinical presentation is one of...