The GENETPIG database: a tool for comparative mapping in pig (Sus scrofa)

The GENETPIG database has been established for storing and disseminating the results of the European project: ‘GENETPIG: identification of genes controlling economic traits in pig'. The partners of this project have mapped about 630 porcine and human ESTs onto the pig genome. The database collects the mapping results and links them to other sources of mapping data; this includes pig maps as well as available comparative mapping information. Functional annotation of the mapped ESTs is also given when a significant similarity to cognate genes was established. The database is accessible for consultation via the Internet at http://www.infobiogen.fr/services/Genetpi

Diagnostic Value of (18)F-Fluorodeoxyglucose Positron Emission Tomography Computed Tomography in Prosthetic Pulmonary Valve Infective Endocarditis

OBJECTIVES: The aim of this study was to assess the diagnostic performances of (18)F-fluorodeoxyglucose ((18)F-FDG) positron emission tomography (PET)/computed tomography (CT) in congenital heart disease (CHD) patients with pulmonary prosthetic valve or conduit endocarditis (PPVE) suspicion. BACKGROUND: PPVE is a major issue in the growing CHD population. Diagnosis is challenging, and usual imaging tools are not always efficient or validated in this specific population. Particularly, the diagnostic yield of (18)F-FDG PET/CT remains poorly studied in PPVE. METHODS: A retrospective multicenter study was conducted in 8 French tertiary centers. Children and adult CHD patients who underwent (18)F-FDG PET/CT in the setting of PPVE suspicion between January 2010 and May 2020 were included. The cases were initially classified as definite, possible, or rejected PPVE regarding the modified Duke criteria and finally by the Endocarditis Team consensus. The result of (18)F-FDG PET/CT had been compared with final diagnosis consensus used as gold-standard in our study. RESULTS: A total of 66 cases of PPVE suspicion involving 59 patients (median age 23 years, 73% men) were included. Sensitivity, specificity, positive predictive value, and negative predictive value of (18)F-FDG PET/CT in PPVE suspicion were respectively: 79.1% (95% CI: 68.4%-91.4%), 72.7% (95% CI: 60.4%-85.0%), 91.9% (95% CI: 79.6%-100.0%), and 47.1% (95% CI: 34.8%-59.4%). (18)F-FDG PET/CT findings would help to correctly reclassify 57% (4 of 7) of possible PPVE to definite PPVE. CONCLUSIONS: Using (18)F-FDG PET/CT improves the diagnostic accuracy of the Duke criteria in CHD patients with suspected PPVE. Its high positive predictive value could be helpful in routine to shorten diagnosis and treatment delays and improve clinical outcomes.L'Institut de Rythmologie et modélisation Cardiaqu

Meeting Report: Aging Research and Drug Discovery

Aging is the single largest risk factor for most chronic diseases, and thus possesses large socioeconomic interest to continuously aging societies. Consequently, the field of aging research is expanding alongside a growing focus from the industry and investors in aging research. This year's 8th Annual Aging Research and Drug Discovery ARDD) meeting was organized as a hybrid meeting from August 30th to September 3rd 2021 with more than 130 attendees participating on-site at the Ceremonial Hall at University of Copenhagen, Denmark, and 1800 engaging online. The conference comprised of presentations from 75 speakers focusing on new research in topics including mechanisms of aging and how these can be modulated as well as the use of AI and new standards of practices within aging research. This year, a longevity workshop was included to build stronger connections with the clinical community

GénoPlante-Info (GPI): a collection of databases and bioinformatics resources for plant genomics

Génoplante is a partnership program between public French institutes (INRA, CIRAD, IRD and CNRS) and private companies (Biogemma, Bayer CropScience and Bioplante) that aims at developing genome analysis programs for crop species (corn, wheat, rapeseed, sunflower and pea) and model plants (Arabidopsis and rice). The outputs of these programs form a wealth of information (genomic sequence, transcriptome, proteome, allelic variability, mapping and synteny, and mutation data) and tools (databases, interfaces, analysis software), that are being integrated and made public at the public bioinformatics resource centre of Génoplante: GénoPlante-Info (GPI). This continuous flood of data and tools is regularly updated and will grow continuously during the coming two years. Access to the GPI databases and tools is available at http://genoplante-info.infobiogen.fr/

3D modeling and printing in large native right ventricle outflow tract to plan complex percutaneous pulmonary valve implantation

Objective: Investigating accuracy of cardiac tomography (CT) derived post-processing3D reconstruction (CT-PPR) and 3D printing to predict percutaneous pulmonary valve implantation (PPVI) feasibility. Background: PPVI feasibility remains challenging in large native regurgitant right ventricle outflow tract (RVOT). Methods: Fifteen patients with large native RVOT were investigated. CT-PPR consisted in RVOT long-axis curvilinear reconstruction (LACR) to measure the landing zone (LZ), and 3D volume rendering for morphological evaluation. A STL was generated to create 3D printed model (flexible resin). Balloon sizing was subsequently performed to measure LZ diameter (3D-MBD), compared to invasive balloon diameter (IBD) during catheterization, considered as the Gold Standard. Two operators predicted the feasibility of PPVI using CT-PPR and 3D printed models independently and blinded to outcome. Results: On 3D printed models, RVOT shape was tubular in 5 patients, divergent in 5 patients, concave in 4 patients and convergent in one. Agreement with CT-PPR RVOT shape morphology assessment was observed in 93% of cases (Kappa coefficient 0.91, p < 0.0001). Minimal IBD was 26.0 [24.4–27.9] mm. Minimal LZ LACR diameters were well correlated to IBD (Spearman rho = 0.67, p = 0.007; r2 = 0.55, p = 0.002) with a mean underestimation bias of 2.8 mm. Minimal 3D-MBD was correlated to IBD (Spearman rho = 0.55, p = 0.04, r2 = 0.50, p = 0.003) with mean underestimation bias of 0.9 mm.PPVI was successful and uneventful in 11 patients, challenging in one and non-feasible in 3. Using CT-PPR and 3D printed models, interventionists predictions agreement with outcome was 93% and 87% (Kappa coefficient = 0.86, p = 0.0001, and Kappa coefficient = 0.65, p = 0.0007 respectively). Conclusion: RVOT 3D CT-PPR and printing allow reliable assessment of RVOT shape and LZ diameter prior to PPVI. Prediction of PPVI feasibility in challenging cases is facilitated

The GENETPIG database: a tool for comparative mapping in pig (Sus scrofa)

The GENETPIG database has been established for storing and disseminating the results of the European project: ‘GENETPIG: identification of genes controlling economic traits in pig’. The partners of this project have mapped about 630 porcine and human ESTs onto the pig genome. The database collects the mapping results and links them to other sources of mapping data; this includes pig maps as well as available comparative mapping information. Functional annotation of the mapped ESTs is also given when a significant similarity to cognate genes was established. The database is accessible for consultation via the Internet at http://www.infobiogen.fr/services/Genetpig/

A French multicentric study and review of pulmonary Nocardia spp. in cystic fibrosis patients

International audienceSome bacterial species recovered from the airways of cystic fibrosis (CF) patients are indisputably associated with lung infections, whereas the clinical relevance of others, such as Nocardia spp., remains unclear. Sixteen French CF cases of colonization/infection with Nocardia spp. were reviewed in order to evaluate the epidemiology, the clinical impact and the potential treatment of these bacteria, and results were compared to those of the literature. Five Nocardia species were identified, Nocardia cyriacigeorgica being the major species (50 % of cases). At first isolation, Nocardia was the sole pathogen recovered in six patients. Seven patients presented pulmonary exacerbation. For 12 patients, antimicrobial treatment against Nocardia was started immediately, mainly based on cotrimoxazole (6 of the 12 cases). In this study, we highlight the heterogeneity of the clinical management of Nocardia spp. in CF. Guidelines for the clinical management of Nocardia infections in CF patients are proposed

Devenir des adultes avec syndrome d’Eisenmenger traités par médicaments spécifiques anti-hypertenseur pulmonaire : données d’une étude multicentrique française

International audienceBackground: The relationship between pulmonary arterial hypertension-specific drug therapy (PAH-SDT) and mortality in Eisenmenger syndrome (ES) is controversial.Aims: To investigate outcomes in patients with ES, and their relationship with PAH-SDT.Methods: Retrospective, observational, nationwide, multicentre cohort study.Results: We included 340 patients with ES: genetic syndrome (n = 119; 35.3%); pretricuspid defect (n = 75; 22.1%). Overall, 276 (81.2%) patients received PAH-SDT: monotherapy (endothelin receptor antagonist [ERA] or phosphodiesterase 5 inhibitor [PDE5I]) 46.7%; dual therapy (ERA + PDE5I) 40.9%; triple therapy (ERA + PDE5I + prostanoid) 9.1%. Median PAH-SDT duration was 5.5 years [3.0–9.1 years]. Events (death, lung or heart-lung transplantation) occurred in 95 (27.9%) patients at a median age of 40.5 years [29.4–47.6]. The cumulative occurrence of events was 16.7% [95% confidence interval 12.8–21.6%] and 46.4% [95% confidence interval 38.2–55.4%] at age 40 and 60 years, respectively. With age at evaluation or time since PAH diagnosis as time scales, cumulative occurrence of events was lower in patients taking one or two PAH-SDTs (P = 0.0001 and P = 0.004, respectively), with the largest differences in the post-tricuspid defect subgroup (P < 0.001 and P < 0.02, respectively) versus patients without PAH-SDT. By multivariable Cox analysis, with time since PAH diagnosis as time scale, New York Heart Association/World Health Organization functional class III/IV, lower peripheral arterial oxygen saturation and pretricuspid defect were associated with a higher risk of events (P = 0.002, P = 0.01 and P = 0.04, respectively), and one or two PAH-SDTs with a lower risk of events (P = 0.009).Conclusions: Outcomes are poor in ES, but seem better with PAH-SDT. ES with pretricuspid defects has worse outcomes despite the delayed disease onset.Contexte: L’intérêt du traitement médical spécifique (TMS) de l’hypertension artérielle pulmonaire (HTAP) dans le syndrome d’Eisenmenger (SE) est controversé.Objectifs: Étudier le pronostic à long terme des patients ayant un SE et la relation avec le TMS.Méthodes: Une cohorte observationnelle longitudinale multicentrique rétrospective historique française de 340 SE a été constituée.Résultats: Le shunt était prétricuspide dans 75 cas (22,1 %). Au total, 276 (81,2 %) patients étaient sous TMS (monothérapie 46,7 % ; bi-thérapie 40,9 % ; tri-thérapie 9,1 %). La durée médiane de TMS était de 5,5 ans [3,0–9,1]. Un événement clinique majeur (ECM : décès, transplantation cardiopulmonaire ou bipulmonaire) a été observé dans 95 (27,9 %) cas à un âge médian de 40,5 [29,4–47,6] ans. La survenue cumulée d’un ECM était de 16,7 % [IC 95 % 12,8–21,6 %] et 46,4 % [IC 95 % 38,2–55,4 %] à l’âge de 40 et 60 ans. Avec l’âge ou le délai depuis le premier examen comme échelle temporelle, la survenue cumulée des ECM était moindre chez les patients sous un ou deux TMS (p = 0,0001 et p = 0,004), en particulier chez les patients avec un shunt post-tricuspide (p < 0,001 et p < 0,02) comparée aux patients sans TMS. Une analyse multivariée de Cox avec le délai depuis le diagnostic de l’HTAP comme échelle temporelle a montré qu’une classe fonctionnelle III ou IV de la NYHA/WHO, une saturation périphérique en oxygène basse (en variable continue), un shunt pré-tricuspide et l’absence de TMS étaient associés à un risque augmenté d’ECM (p = 0,002 ; p = 0,01 ; p = 0,04 and p = 0,009, respectivement).Conclusions: Le TMS dans le SE semble associé à un meilleur pronostic. Néanmoins, même avec un traitement médical palliatif, le pronostic du SE reste altéré. Les patients avec un shunt prétricuspide ont un profil clinique et un pronostic plus sombre malgré une survenue plus tardive de l’HTAP

Cardiogenic shock in adults with congenital heart disease: Insights from the FRENSHOCK registry

International audienceBackground: Data on cardiogenic shock in adults with congenital heart disease (ACHD) are scarce.Aim:We sought to describe cardiogenic shock in ACHD patients in a nationwide cardiogenic shock registry.Methods: From the multicentric FRENSHOCK registry (772 patients with cardiogenic shock from 49 French centres between April and October 2016), ACHD patients were compared with adults without congenital heart disease (non-ACHD). The primary outcome was defined by all-cause mortality, chronic ventricular assist device or heart transplantation at 1 year.Results: Out of the 772 patients, seven (0.9%) were ACHD, who were younger (median age: 56 vs. 67 years), had fewer cardiovascular risk factors, such as hypertension (14.3% vs. 47.5%) and diabetes (14.3% vs. 28.3%), and no previous ischaemic cardiopathy (0 vs. 61.5%). Right heart catheterization (57.1% vs. 15.4%), pacemakers (28.6% vs. 4.6%) and implantable cardioverter-defibrillators (28.6% vs. 4.8%) were indicated more frequently in the management of ACHD patients compared with non-ACHD patients, whereas temporary mechanical circulatory support (0 vs. 18.7%) and invasive mechanical ventilation (14.3% vs. 38.1%) were less likely to be used in ACHD patients. At 1 year, the primary outcome occurred in 85.7% (95% confidence interval: 42.1–99.6) ACHD patients and 52.3% (95% confidence interval: 48.7–55.9) non-ACHD patients. Although 1-year mortality was not significantly different between ACHD patients (42.9%) and non-ACHD patients (45.4%), ventricular assist devices and heart transplantation tended to be more frequent in the ACHD group.Conclusions: Cardiogenic shock in ACHD patients is rare, accounting for only 0.9% of an unselected cardiogenic shock population. Despite being younger and having fewer co-morbidities, the prognosis of ACHD patients with cardiogenic shock remains severe, and is similar to that of other patients

Recommandations sur la gestion du risque et la prise en charge urologique du patient adulte atteint de dysraphisme spinal (spina bifida)

International audienceIntroduction: Improved life expectancy and prenatal screening have changed the demographics of spina bifida (spinal dysraphism) which has presently become a disease of adulthood. Urinary disorders affect almost all patients with spinal dysraphism and are still the leading cause of mortality in these patients. The aim of this work was to establish recommendations for urological management that take into account the specificities of the spina bifida population. Materials and methods: National Diagnosis and Management Guidelines (PNDS) were drafted within the framework of the French Rare Diseases Plan at the initiative of the Centre de Référence Maladies Rares Spina Bifida - Dysraphismes of Rennes University Hospital. It is a collaborative work involving experts from different specialties, mainly urologists and rehabilitation physicians. We conducted a systematic search of the literature in French and English in the various fields covered by these recommendations in the MEDLINE database. In accordance with the methodology recommended by the authorities (Guide_methodologique_pnds.pdf, 2006), proposed recommendations were drafted on the basis of this literature review and then submitted to a review group until a consensus was reached. Results: Bladder dysfunctions induced by spinal dysraphism are multiple and varied and evolve over time. Management must be individually adapted and take into account all the patient's problems, and is therefore necessarily multi-disciplinary. Self-catheterisation is the appropriate micturition method for more than half of the patients and must sometimes be combined with treatments aimed at suppressing any neurogenic detrusor overactivity (NDO) or compliance alteration (anticholinergics, intra-detrusor botulinum toxin). Resort to surgery is sometimes necessary either after failure of non-invasive treatments (e.g. bladder augmentation in case of NDO resistant to pharmacological treatment), or as a first line treatment in the absence of other non-invasive alternatives (e.g. aponeurotic suburethral tape or artificial urinary sphincter for sphincter insufficiency; urinary diversion by ileal conduit if self-catheterisation is impossible). Conclusion: Spinal dysraphism is a complex pathology with multiple neurological, orthopedic, gastrointestinal and urological involvement. The management of bladder and bowel dysfunctions must continue throughout the life of these patients and must be integrated into a multidisciplinary context