Publications by authors named "WEMEAU"
Background And Hypothesis: Kidney involvement, along with cardiac disease, is the most frequent manifestation of systemic AL amyloidosis usually resulting in nephrotic-range proteinuria. Rarely, deposits predominantly or exclusively affect the intrarenal arterioles or arteries, these vascular-limited forms following a distinct clinical course, but very little is known about these forms. Our work plan at better characterizing renal vascular limited AL amyloidosis.
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- Advanced systemic mastocytosis (AdvSM) is a complex condition linked to poor outcomes, and while midostaurin is the first approved treatment, its long-lasting effectiveness is limited.
- Various prognostic scoring systems like MARS, IPSM, and GPSM have been developed to assess patients' outcomes, but it's essential to tailor these scores to specific AdvSM subtypes for better accuracy.
- A study of patients treated with midostaurin revealed that MARS and AdvSM subtype significantly predict overall survival, identifying five distinct patient subgroups with varying median survival times, highlighting the need for personalized management strategies.
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- A new community of heads of haematology departments has been formed to provide mutual support in response to challenges within the French hospital system.
- An inaugural seminar held in January 2023 laid the groundwork for this initiative, fostering connections and collaboration among participants.
- The community expanded in January 2024, involving a wider group of department heads, enhancing teamwork and resource-sharing to improve hospital management and operations.
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- APECED syndrome is a rare genetic disorder caused by mutations in the AIRE gene, typically characterized by a triad of symptoms including hypoparathyroidism, adrenal failure, and chronic mucocutaneous candidiasis (CMC), along with other non-endocrine issues.
- In a national study involving 25 patients from 23 families, researchers identified 11 different variants of the AIRE gene, including two previously unreported variants, and found that a majority of patients displayed multiple clinical manifestations.
- The study revealed significant immunological disturbances, such as NK cell lymphopenia and altered B lymphocyte homeostasis, and highlighted a variety of non-endocrine symptoms that could potentially be life-threatening, emphasizing the need for
Background: Light chain deposition disease (LCDD) is a very rare entity. Clinical manifestations of LCDD vary according to the organs involved. Data on pulmonary LCDD are scarce and limited to small series or case reports.
View Article and Find Full Text PDFBackground: Several rare surfactant-related gene (SRG) variants associated with interstitial lung disease are suspected to be associated with lung cancer, but data are missing. We aimed to study the epidemiology and phenotype of lung cancer in an international cohort of SRG variant carriers.
Methods: We conducted a cross-sectional study of all adults with SRG variants in the OrphaLung network and compared lung cancer risk with telomere-related gene (TRG) variant carriers.
We investigated using a custom NGS panel of 149 genes the mutational landscape of 64 consecutive adult patients with tyrosine kinase fusion-negative hypereosinophilia (HE)/hypereosinophilic syndrome (HES) harboring features suggestive of myeloid neoplasm. At least one mutation was reported in 50/64 (78%) patients (compared to 8/44 (18%) patients with idiopathic HE/HES/HE used as controls; p < .001).
View Article and Find Full Text PDFBackground: Our objective was to evaluate the short-, medium- and long-term benefits of home-based pulmonary rehabilitation (PR) on the physical and affective components of dyspnoea in people with fibrotic idiopathic interstitial pneumonias (f-IIPs). Anxiety and depressive symptoms, fatigue, health-related quality of life and exercise tolerance were also assessed.
Methods: Data on 166 individuals with f-IIPs who enrolled in an 8-week home-based PR programme (weekly supervised 90-min session) were retrospectively analysed.
Background And Objective: Variants in surfactant genes SFTPC or ABCA3 are responsible for interstitial lung disease (ILD) in children and adults, with few studies in adults.
Methods: We conducted a multicentre retrospective study of all consecutive adult patients diagnosed with ILD associated with variants in SFTPC or ABCA3 in the French rare pulmonary diseases network, OrphaLung. Variants and chest computed tomography (CT) features were centrally reviewed.
Patients with idiopathic fibrosing interstitial pneumonias (f-IIPs) mainly suffer from dyspnea. Refractory dyspnea, defined as persistent dyspnea despite optimal treatment, could be the signal to prescribe dyspnea relievers. We aimed to examine the prevalence and characteristics of refractory dyspnea in consecutive patients with f-IIPs.
View Article and Find Full Text PDFObjectives: Interstitial lung disease (ILD) is a severe extra-articular manifestation of rheumatoid arthritis (RA). The objectives of this study were to estimate mortality rate in patients with RA-ILD and identify factors affecting mortality.
Methods: Data from a French national claims database (Système National des Données de Santé) from 2013 to 2018 were analysed.
Background And Aim: Germline mutations of telomere-related genes (TRG) induce multiorgan dysfunction, and liver-specific manifestations have not been clearly outlined. We aimed to describe TRG mutations-associated liver diseases.
Approach And Results: Retrospective multicenter analysis of liver disease (transaminases > 30 IU/L and/or abnormal liver imaging) in patients with TRG mutations.
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- Primary myelofibrosis (PMF) and polycythaemia vera (PV) are uncommon blood disorders that can lead to serious complications like blood clots, bleeding, and potentially cancer.
- These conditions exhibit diverse biological and clinical characteristics, making their management in everyday medical practice quite variable.
- The review offers a recent perspective on diagnosing, predicting outcomes, and treating PMF and PV, highlighting how a group of experts in France applies research findings to standard healthcare practices.
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- Hereditary erythrocytosis is a rare condition with excessive red blood cell production, and a study involved 2,160 patients across Europe focusing on the EGLN1 gene.
- Researchers identified 39 mutations in the EGLN1 gene, including one deletion, which encodes the PHD2 enzyme that regulates the hypoxia-inducible factor.
- The study assessed the effects of these mutations through various methods, identifying 16 as pathogenic, and highlighted the importance of collaborative research in addressing rare genetic disorders.
EXPLORATION AND MANAGEMENT OF THYROID NODULES. Most thyroid nodules are benign (95%) and can benefit from clinical and ultrasound monitoring. Cancers (approximately 5% of nodules) could be suspected, particularly in subjects whose neck was irradiated, in cases of a hard, irregular, evolving nodule, or with very high serum calcitonin (> 100 pg/ml).
View Article and Find Full Text PDFBackground: The present article is an English-language version of the French National Diagnostic and Care Protocol, a pragmatic tool to optimize and harmonize the diagnosis, care pathway, management and follow-up of lymphangioleiomyomatosis in France.
Methods: Practical recommendations were developed in accordance with the method for developing a National Diagnosis and Care Protocol for rare diseases of the Haute Autorité de Santé and following international guidelines and literature on lymphangioleiomyomatosis. It was developed by a multidisciplinary group, with the help of patient representatives and of RespiFIL, the rare disease network on respiratory diseases.
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- A study assessed the safety and efficacy of gilteritinib in 167 patients with relapsed/refractory FLT3-mutated acute myeloid leukemia (AML), comparing it to data from the ADMIRAL trial.
- The key differences in patient characteristics included higher rates of poor performance status and FLT3-TKD mutations, along with more complex treatment histories among participants.
- The results showed similar rates of complete remission and overall survival between treatment cohorts and highlighted the potential for outpatient treatment benefits for heavily pretreated patients.
Background: Autoimmune conditions in B-cell lymphomas are frequent. Steroids are standard of care, but many patients require other immunosuppressive agents. Ibrutinib is a Bruton Tyrosine Kinase inhibitor that is approved for B-cell indolent lymphoma treatment.
View Article and Find Full Text PDFSubsequent blast (BP) or accelerated phase (AP) is a severe complication of Philadelphia-negative myeloproliferative neoplasms (MPNs). The prognosis is generally dismal, but hypomethylating agents (HMAs) may induce a long-lasting response in a minority of patients. Here, we report a cohort of six patients with BP/AP-MPN who experienced MPN relapse after a leukemia response was obtained with azacytidine.
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- * Diagnosing HOAH typically involves gene mutation identification and phenotypic studies; however, normal electrophoretic analysis can occur in about one-third of cases, and the venous P50 measurement is crucial but not widely available.
- * In a study of 75 patients with idiopathic erythrocytosis and normal venous P50 values, mutations were found in three patients, suggesting that normal P50 results might not adequately rule out HOAH, highlighting the need for systematic gene sequencing in these cases.
Background And Objective: Poly(A)-specific ribonuclease (PARN) mutations have been associated with familial pulmonary fibrosis. This study aims to describe the phenotype of patients with interstitial lung disease (ILD) and heterozygous PARN mutations.
Methods: We performed a retrospective, observational, non-interventional study of patients with an ILD diagnosis and a pathogenic heterozygous PARN mutation followed up in a centre of the OrphaLung network.
Objectives: Among interstitial pneumonia with autoimmune features (IPAF) patients, identifying those at risk to develop a connective tissue disease (CTD) during the disease course is a key issue. The aim of this study was to evaluate the incidence of definite CTD diagnosis in IPAF patients during follow-up.
Methods: We performed a multicentric cohort study of interstitial lung disease (ILD) from 2010 to 2017 in pneumology and immunology departments of tertiary care centers.
Introduction: Pirfenidone, an antifibrotic medication for idiopathic pulmonary fibrosis (IPF), is now available in France in two formulations: tablets since April 2018, and the initial capsules form. We conducted a cohort study to describe tolerance and acceptability of capsules and/or tablets of pirfenidone in patients with IPF.
Methods: This study was nested within the French, non-randomized, multicenter RaDiCo-ILD (Rare Disease Cohort-Interstitial Lung Diseases).