Liste des publications scientifiques du CHU de Clermont-Ferrand

Cette liste prend en compte l'ensemble des publications scientifiques du CHU référencées sur PubMed de 1973 au 31.12.2020

Auteurs : Georges, A; Albuisson, J; Berrandou, T; Jeunemaitre, X; Bouatia-Naji, N ; et al.

Revue : Cardiovascular research - ISSN : 1755-3245 - NLMID : 77427
Date de Publication : Mars 2021
Vol. : 117 Numéro 4 Pages : 1154-1165


Résumé : Fibromuscular dysplasia (FMD) and spontaneous coronary artery dissection (SCAD) are related, non-atherosclerotic arterial diseases mainly affecting middle-aged women. Little is known about their physiopathological mechanisms. We aimed to identify rare genetic causes to elucidate molecular mechanisms implicated in FMD and SCAD.We analysed 29 exomes that included familial and sporadic FMD. We identified one rare loss-of-function variant (LoF) (frequencygnomAD = 0.000075) shared by two FMD sisters in the prostaglandin I2 receptor gene (PTGIR), a key player in vascular remodelling. Follow-up was conducted by targeted or Sanger sequencing (1071 FMD and 363 SCAD patients) or lookups in exome (264 FMD) or genome sequences (480 SCAD), all independent and unrelated. It revealed four additional LoF allele carriers, in addition to several rare missense variants, among FMD patients, and two LoF allele carriers among SCAD patients, including one carrying a rare splicing mutation (c.768?+?1C>G). We used burden test to test for enrichment in patients compared to gnomAD controls, which detected a putative enrichment in FMD (PTRAPD = 8?×?10-4), but not a significant enrichment (PTRAPD?=?0.12) in SCAD. The biological effects of variants on human prostaclycin receptor (hIP) signalling and protein expression were characterized using transient overexpression in human cells. We confirmed the LoFs (Q163X and P17RfsX6) and one missense (L67P), identified in one FMD and one SCAD patient, to severely impair hIP function in vitro.Our study shows that rare genetic mutations in PTGIR are enriched among FMD patients and found in SCAD patients, suggesting a role for prostacyclin signalling in non-atherosclerotic stenosis and dissection.

Mots clés auteurs : /Fibromuscular dysplasia/Prostacyclin signalling/Rare loss-of-function variants/Spontaneous coronary artery dissection

Auteurs : Anmella, G; Gil-Badenes, J; Pacchiarotti, I; Vieta, E; Murru, A ; et al.

Revue : Journal of affective disorders - ISSN : 1573-2517 - NLMID : 7906073
Date de Publication : Janvier 2020
Vol. : 261 Pages : 30-39


Résumé : Diagnostic criteria for a major depressive episode capture heterogeneous presentations across unipolar (UD) and bipolar (BD) and first-onset (FDE) depression. We evaluated the contribution of each depressive and (hypo)manic symptom to worse functioning in UD/BD/FDE subgroups.A post-hoc analysis of the BRIDGE-II-Mix study. Acutely depressed patients were stratified into UD, BD and FDE. Each (hypo)manic or depressive symptom was included in a diagnosis-specific logistic regression model with functioning as dependent variable. Better/worse functioning was set with median diagnosis-specific GAF scores cutoffs. All p values were two-tailed. Statistical significance was set at p < 0.05.A total of 2768/2811 depressed individuals were enrolled. In BD (N?=?716), "recurrent thoughts of death" (OR 2.48, p < 0.0001) and "feelings of worthlessness" (OR 2.28, p < 0.0001) among depressive symptoms, "aggressiveness" (OR 1.67, p?=?0.022) as the unique (hypo)manic symptom, significantly contributed to worse functioning. In UD (N?=?1357), "depressed mood" (OR 5.6, p?=?0.031) and "diminished interest or pleasure" (OR 4.77, p < 0.0001) among depressive, "grandiosity" (OR 3.5, p?=?0.014) among (hypo)manic symptoms, most significantly contributed to worse functioning. In FDE (N?=?677) "recurrent thoughts of death" (OR 1.99, p < 0.0001) and "insomnia/hypersomnia" (OR 1.88, p?=?0.039) among depressive, "grandiosity" (OR 5.98, p?=?0.038) as (hypo)manic symptoms significantly contributed to worse functioning.The post-hoc and cross-sectional design do not allow for prognostic or causal inferences.Key depressive and (hypo)manic symptoms distinctively associate with worse functional outcome in acute depression, with differential diagnostic-specific magnitude of effect. Core depressive symptoms are associated with worse functioning in unipolar depression, but not in bipolar or first-episode depression.

Mesh : Acute Disease|Adult|Affective Symptoms/diagnosis/psychology|Bipolar Disorder/diagnosis/psychology|Cross-Sectional Studies|Depressive Disorder, Major/diagnosis/psychology|Diagnosis, Differential|Disorders of Excessive Somnolence/psychology|Emotions|Female|Humans|Logistic Models|Male|Middle Aged|Prognosis|Psychosocial Functioning|Sleep Initiation and Maintenance Disorders/psychology|Symptom Assessment

Mots clés auteurs : /BRIDGE-II-Mix/Bipolar depression/Functioning/Major depressive episode/Symptoms

Auteurs : Romero, P; Boudhraa, Z; Carton, M; Rouanet, J; Degoul, F ; et al.

Revue : The Australasian journal of dermatology - ISSN : 1440-0960 - NLMID : 135232
Date de Publication : Mai 2020
Vol. : 61 Numéro 2 Pages : e254-e256
Mesh : Adult|Aged|Aged, 80 and over|Annexin A1/metabolism|Female|Humans|Male|Melanoma/metabolism/secondary|Middle Aged|Retrospective Studies|Skin Neoplasms/metabolism/pathology

Auteurs : Allach El Khattabi, L; Heide, S; Caberg, JH; Benzacken, B; Pipiras, E ; et al.

Revue : Journal of medical genetics - ISSN : 1468-6244 - NLMID : 2985087R
Date de Publication : Mai 2020
Vol. : 57 Numéro 5 Pages : 301-307


Résumé : The clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were not or poorly characterised. The absence of consensual recommendations leads to interpretation discrepancy and makes genetic counselling challenging. This study aims to decipher the genotype-phenotype correlations to improve genetic counselling and patients' medical care.We retrospectively analysed data from 16 013 patients referred to 12 genetic centers for DD, ID or ASD, and who had a chromosomal microarray analysis. The referring geneticists of patients for whom a 16p13.11 duplication was detected were asked to complete a questionnaire for detailed clinical and genetic data for the patients and their parents.Clinical features are mainly speech delay and learning disabilities followed by ASD. A significant risk of cardiovascular disease was noted. About 90% of the patients inherited the duplication from a parent. At least one out of four parents carrying the duplication displayed a similar phenotype to the propositus. Genotype-phenotype correlations show no impact of the size of the duplicated segment on the severity of the phenotype. However, NDE1 and miR-484 seem to have an essential role in the neurocognitive phenotype.Our study shows that 16p13.11 microduplications are likely pathogenic when detected in the context of DD/ID/ASD and supports an essential role of NDE1 and miR-484 in the neurocognitive phenotype. Moreover, it suggests the need for cardiac evaluation and follow-up and a large study to evaluate the aortic disease risk.

Mots clés auteurs : /16p13.11 duplication/MYH11/NDE1/miR-484/neurodevelopmental disorder

Auteurs : Bech, B; Primdahl, J; van Tubergen, A; Waite-Jones, J; van Eijk-Hustings, Y ; et al.

Revue : Annals of the rheumatic diseases - ISSN : 1468-2060 - NLMID : 372355
Date de Publication : Janvier 2020
Vol. : 79 Numéro 1 Pages : 61-68


Résumé : To update the European League Against Rheumatism (EULAR) recommendations for the role of the nurse in the management of chronic inflammatory arthritis (CIA) using the most up to date evidence. The EULAR standardised operating procedures were followed. A task force of rheumatologists, health professionals and patients, representing 17 European countries updated the recommendations, based on a systematic literature review and expert consensus. Higher level of evidence and new insights into nursing care for patients with CIA were added to the recommendation. Level of agreement was obtained by email voting. The search identified 2609 records, of which 51 (41 papers, 10 abstracts), mostly on rheumatoid arthritis, were included. Based on consensus, the task force formulated three overarching principles and eight recommendations. One recommendation remained unchanged, six were reworded, two were merged and one was reformulated as an overarching principle. Two additional overarching principles were formulated. The overarching principles emphasise the nurse's role as part of a healthcare team, describe the importance of providing evidence-based care and endorse shared decision-making in the nursing consultation with the patient. The recommendations cover the contribution of rheumatology nursing in needs-based patient education, satisfaction with care, timely access to care, disease management, efficiency of care, psychosocial support and the promotion of self-management. The level of agreement among task force members was high (mean 9.7, range 9.6-10.0). The updated recommendations encompass three overarching principles and eight evidence-based and expert opinion-based recommendations for the role of the nurse in the management of CIA.

Mesh : Arthritis/nursing|Arthritis, Psoriatic/nursing|Arthritis, Rheumatoid/nursing|Education, Nursing, Continuing|Health Services Accessibility|Humans|Nurse's Role|Patient Education as Topic|Patient Satisfaction|Rheumatology|Specialties, Nursing|Spondylarthropathies/nursing|Spondylitis, Ankylosing/nursing|Telemedicine

Mots clés auteurs : /arthritis/health services research/nursing/patient perspective/rheumatoid arthritis

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