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Le Touquet – Paris-Plage, France

Soubrier F.,Institute of Cardiometabolism and Nutrition ICAN | Chung W.K.,Columbia University | Machado R.,University of Lincoln | Grunig E.,University of Heidelberg | And 6 more authors.
Journal of the American College of Cardiology | Year: 2013

Major discoveries have been obtained within the last decade in the field of hereditary predisposition to pulmonary arterial hypertension (PAH). Among them, the identification of bone morphogenetic protein receptor type 2 (BMPR2) as the major predisposing gene and activin A receptor type II-like kinase-1 (ACVRL1, also known as ALK1) as the major gene when PAH is associated with hereditary hemorrhagic telangiectasia. The mutation detection rate for the known genes is approximately 75% in familial PAH, but the mutation shortfall remains unexplained even after careful molecular investigation of these genes. To identify additional genetic variants predisposing to PAH, investigators harnessed the power of next-generation sequencing to successfully identify additional genes that will be described in this report. Furthermore, common genetic predisposing factors for PAH can be identified by genome-wide association studies and are detailed in this paper. The careful study of families and routine genetic diagnosis facilitated natural history studies based on large registries of PAH patients to be set up in different countries. These longitudinal or cross-sectional studies permitted the clinical characterization of PAH in mutation carriers to be accurately described. The availability of molecular genetic diagnosis has opened up a new field for patient care, including genetic counseling for a severe disease, taking into account that the major predisposing gene has a highly variable penetrance between families. Molecular information can be drawn from the genomic study of affected tissues in PAH, in particular, pulmonary vascular tissues and cells, to gain insight into the mechanisms leading to the development of the disease. High-throughput genomic techniques, on the basis of next-generation sequencing, now allow the accurate quantification and analysis of ribonucleic acid, species, including micro-ribonucleic acids, and allow for a genome-wide investigation of epigenetic or regulatory mechanisms, which include deoxyribonucleic acid methylation, histone methylation, and acetylation, or transcription factor binding. © 2013 by the American College of Cardiology Foundation. Published by Elsevier Inc. Source


Verger E.O.,Institute of Cardiometabolism and Nutrition ICAN | Verger E.O.,French Institute of Health and Medical Research | Eussen S.,Nutricia Research | Holmes B.A.,Danone Nutricia Research
Public Health Nutrition | Year: 2016

Objective To adapt and evaluate a nutrient-based diet quality index (PANDiet) for UK young children and to determine the nutritional adequacy of their diets according to consumption of young child formula (YCF) and commercial infant foods (CIF). Design Content and construct validity of the PANDiet were assessed by studying associations between the PANDiet and its components, energy intake, food intakes, and child and maternal characteristics. Four groups of children were defined according to their intake of YCF and CIF: (i) no consumption; (ii) consumption of YCF; (iii) consumption of CIF; and (iv) consumption of YCF and CIF. Child and maternal characteristics, PANDiet scores and food intakes of these four groups were compared. Setting Secondary analysis of data from the UK Diet and Nutrition Survey of Infants and Young Children (DNSIYC, 2011). Subjects Young children (n 1152) aged 12-18 months. Results The PANDiet was adapted to the UK based on twenty-five nutrients. A lower PANDiet score was linked to lower intakes of YCF, CIF, vegetables and fruits. Determinants of having a lower score were being older, having siblings and having a younger mother with a lower educational level. Compared with children consuming neither YCF nor CIF, PANDiet scores were higher in children consuming CIF (+1·4), children consuming YCF (+7·2) and children consuming YCF and CIF (+7·8; all P<0·001). Conclusions The PANDiet is a valid indicator of the nutrient adequacy of the diet of UK young children. Consuming CIF was not found to be associated with lower nutritional adequacy whereas consuming YCF was associated with higher nutritional adequacy. Copyright © The Authors 2015. Source


Danchin A.,Institute of Cardiometabolism and Nutrition ICAN
Comptes Rendus - Biologies | Year: 2016

Of very ancient descent, domestication switched the outcome of natural selection to that due to human design. A widespread fancy is that man-created contraptions develop dangerously on their own because of their Promethean essence. This assumes implicitly-how difficult is it to refrain from thinking that we are the sawyers of nature!-that their crafted powers would dominate the autonomy resulting from billions of years of evolution. Yet artifice depends on the skills of its creator, so that it is when coming close to nature that danger surfaces. Invasive species are natural, and the havoc they create is here to call for some modesty in the appraisal of our endeavours. The farther away, the less dangerous. Being distant from man, engineered plants are considerably less harmful than animal constructs, especially those that are close to man and meant for medical use. This reality contrasts with popular belief. In this misconception lies the danger, magnified by the present demographic explosion of the invasive species Homo sapiens, which develops artificial environments that provide progressively less room for life to evolve. © 2016 Académie des sciences. Source


Genser L.,Henri Mondor University Hospital | Genser L.,Institute of Cardiometabolism and Nutrition ICAN | Tayar C.,Henri Mondor University Hospital | Tayar C.,Clemenceau Medical Center | Eddine I.K.,Clemenceau Medical Center
Obesity Surgery | Year: 2015

Background: Single incision laparoscopic sleeve gastrectomy (SILSG) has proven to be a safe minimal invasive procedure. The umbilicus placement of the device allows the avoidance of any visible scars. Kartagener syndrome is a rare genetic disorder (1:15 000) accompanied by the combination of chronic sinusitis/bronchiectasis leading to respiratory insufficiency and situs inversus totalis (SIT) in half of the patients. SIT is a transposition of organs to the opposite side of the body and can lead to difficulties in laparoscopic surgery because of mirror image anatomy modification. Methods: We present the case of a 52-year-old woman (122 kg; 1.58 m) with a body mass index of 49 kg/m2 presenting SIT with chronic respiratory insufficiency as part of Kartagener syndrome. Results: In this multimedia video, we present a step-by-step trans-umbilical SILSG completed in SIT condition. Single site approach allows several technical advantages such as single-port placement, surgeon position as well as surgical instruments manipulation that are unchanged compared to “normal anatomy patients.” These resulted in limited intra-operative difficulties. No adverse outcomes occurred during the post-operative period. Conclusions: Trans-umbilical SILSG in patients with SIT can be performed safely and in comparable conditions than in normal anatomy patients. © 2015, Springer Science+Business Media New York. Source


Le Goff W.,French Institute of Health and Medical Research | Le Goff W.,University Pierre and Marie Curie | Le Goff W.,Institute of Cardiometabolism and Nutrition ICAN
Atherosclerosis | Year: 2015

Omega-3 fatty acids (n-3) FA are reported to be protective against cardiovascular disease (CVD), notably through their beneficial action on atherosclerosis development. In this context dietary intake of long-chain marine eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) is recommended and randomised trials largely support that EPA and DHA intake is associated with a reduction of CVD. However, mechanisms governing the atheroprotective action of n-3 FA are still unclear and numerous studies using mouse models conducted so far do not allow to reach a precise view of the cellular and molecular effects of n-3 FA on atherosclerosis. In the current issue of Atherosclerosis, Chang etal. provide important new information on the anti-atherogenic properties of n-3 FA by analysing the incremental replacement of saturated FA by pure fish oil as a source of EPA and DHA in Ldlr-/- mice fed a high fat/high cholesterol diet. © 2014 Elsevier Ireland Ltd. Source

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