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Publications

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
17 janv. 2025 01:00 - SFR Icat
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear. DNA methylation episignatures have emerged as highly accurate diagnostic biomarkers in a...
Treatment-emergent central sleep apnea in patients treated with a mandibular advancement device
17 janv. 2025 01:00 - SFR Icat
CONCLUSIONS: TECSA is a rare phenomenon that can occur in patients treated with a MAD for an OSAS. Clinical, polysomnographic and treatment-related risk factors have yet to be reassessed in larger cohorts. These findings suggest probably poorer subjective clinical outcomes in terms of sleepiness and quality of life in patients with MAD-related TECSA.
Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia
17 janv. 2025 01:00 - SFR Icat
Patients with essential thrombocythemia (ET) have a chronic evolution with a risk of hematological transformation associated with a dismal outcome. Since patients with resistance or intolerance have an adverse prognosis, it is important to identify which patient will respond to first-line treatment. We therefore aim to describe the association between additional mutations and response to first-line treatment in patients with ET. In this retrospective study, we analyzed the molecular landscape of...
Chapter 14: POST-SURGICAL FOLLOW-UP
16 janv. 2025 01:00 - SFR Icat
Primary hyperparathyroidism is treated surgically. Postoperatively, close monitoring of blood calcium levels is necessary to detect any hypocalcemia. Postoperative PTH assays can be performed within 24 hours to identify patients who will not develop permanent hypoparathyroidism.Hypocalcemia may be caused by hypoparathyroidism (especially in the case of multi-glandular surgery or revision surgery) or by hungry bone syndrome. The latter should be suspected in case of major skeletal damage or...
Prospective associations between organisational changes and health outcomes among French employees who remained in employment
13 janv. 2025 01:00 - SFR Icat
CONCLUSIONS: Our study did not find significant prospective associations between organisational changes and two health outcomes among employees who remained in employment. More high-quality research is needed.
Balancing risks and priorities: Achieving right care in diagnosing pulmonary embolism during pregnancy
13 janv. 2025 01:00 - SFR Icat
No abstract
Efficacy of immune checkpoint inhibitors in renal cell carcinoma venous tumour thrombus shrinkage (UroCCR 128)
10 janv. 2025 01:00 - SFR Icat
CONCLUSION: These data highlight the potential efficacy of ICIs to shrink the VTT even if they seem to have little impact on the extent of VTT.
Epidemiology and Prognostic Factors Associated With Mold-Positive Blood Cultures: 10-Year Data From a French Prospective Surveillance Program (2012-2022)
10 janv. 2025 01:00 - SFR Icat
CONCLUSIONS: Underlying conditions and clinical presentation vary between genera and could be considered to guide early management.
Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study
9 janv. 2025 01:00 - SFR Icat
INTRODUCTION: MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the GCK gene. MODY2 is often confused with type 1 or type 2 diabetes, but despite a slightly elevated blood glucose level, it does not induce long-term vascular complications, nor does it require pharmacological treatment. Genetic testing for the diagnosis of MODY2 is currently reserved for genetic specialists and some physicians....
Case Report: Utility of brain [<sup>18</sup>F]FDG PET/CT in the diagnosis of Sydenham's chorea
8 janv. 2025 01:00 - SFR Icat
Sydenham's chorea is an autoimmune reaction against cerebral basal ganglia associated with rheumatic fever, caused by group A beta-hemolytic streptococcus infection. Diagnosis of this condition is difficult because of significant delay between infection onset and symptoms presentation, resulting in few positive biological tests or imaging exams. We report the case of a nine-year-old boy exhibiting hemicorporal abnormal movements with tics for whom [^(18)F]FDG PET/CT exam allowed to make the...
Learning to Train and to Explain a Deep Survival Model with Large-Scale Ovarian Cancer Transcriptomic Data
8 janv. 2025 01:00 - SFR Icat
Background/Objectives: Ovarian cancer is a complex disease with poor outcomes that affects women worldwide. The lack of successful therapeutic options for this malignancy has led to the need to identify novel biomarkers for patient stratification. Here, we aim to develop the outcome predictors based on the gene expression data as they may serve to identify categories of patients who are more likely to respond to certain therapies. Methods: We used The Cancer Genome Atlas (TCGA) ovarian cancer...
Craniofacial Effects of Zoledronic Acid on the Osteogenesis Imperfecta Mouse (-/-) Model of Severe Osteogenesis Imperfecta
8 janv. 2025 01:00 - SFR Icat
Background: Osteogenesis imperfecta (OI) is a rare genetic disorder affecting mainly type I collagen, which leads to bone fragility and deformities. OI patients also present craniofacial abnormalities such as macrocephaly and malocclusion. Recently, craniofacial dysmorphism was highlighted in the osteogenesis imperfecta mouse (oim), a validated model of the most severe form of OI. This study explores the impact of zoledronic acid (ZA), commonly administered to OI patients to increase bone mass...
An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New <em>PTRH2</em> Gene Variants
8 janv. 2025 01:00 - SFR Icat
CONCLUSIONS: The clinical presentation of IMNEPD remains highly variable in terms of both severity and progression. Mutations at the Q85 residue have been identified in nearly 50% of reported cases, highlighting this position as a potential mutational hotspot in the PTRH2 protein.
Myotilin gene duplication causing late-onset myotilinopathy
6 janv. 2025 01:00 - SFR Icat
CONCLUSIONS: This study expands the molecular spectrum of myotilinopathy and highlights the use of long-read sequencing in the diagnosis of genetic neurological diseases caused by duplications and genomic structural variants. Myotilinopathy as well as other myofibrillar and distal myopathies should be considered in the differential diagnosis of patients affected by distal muscle weakness, even when presenting at an old age.
Angioedema due to acquired C1-inhibitor deficiency without hematological condition: a multicenter French cohort study of 34 patients
5 janv. 2025 01:00 - SFR Icat
CONCLUSION: AAE-C1-INH without hematological condition display a different clinical and biological presentation from lymphoma associated-AAE-C1-INH. No autoimmune disease was identified. Unlike rituximab, long-term prophylaxis seems to prevent angioedema attacks among these patients.