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Cet article propose une synthèse bibliographique sur la mobilité des troupeaux dans le sud de la France, en se concentrant sur ses dimensions organisationnelle et technique. Une trentaine d’enquêtes menées par les auteurs amènent le point de vue d’éleveurs. La mobilité peut être locale ou de longue distance, et impliquer ou non des variations d’altitude. La mobilité saisonnière suivant un gradient altitudinal est bien connue : transhumance estivale vers les pâturages d’altitude, transhumance hivernale vers les plaines et les zones périméditerranéennes. La transhumance est documentée depuis des siècles dans le sud de la France, et sa pratique a évolué dans le temps. Au XXIe siècle, elle reste répandue et mobilise des moyens et technologies modernes. Quelle que soit sa forme, la mobilité permet d’offrir au troupeau, aussi longtemps que possible, des ressources pastorales* en quantité et qualité suffisantes ; elle favorise ainsi des systèmes économes et autonomes. La présence temporaire des troupeaux est compatible avec le multi-usage des espaces. Dans les exploitations qui la pratiquent, la mobilité économise des intrants, allège parfois le travail de l’éleveur et permet d’assurer le bien-être du troupeau. Sa mise en œuvre nécessite des précautions sanitaires et une bonne coordination entre acteurs. L’augmentation régulière de la pression de prédation par le loup est un frein majeur à la mobilité des troupeaux, en particulier ovins. Pour maintenir voire développer la mobilité, il faudra proposer de nouveaux outils (matériels, législatifs et administratifs) de gestion de la prédation, mieux documenter la pratique et poursuivre l’accompagnement du multi-usage des espaces.

Résumé La diffusion du séquençage haut débit (ou NGS pour Next Generation Sequencing) représente un tel changement d’échelle par rapport aux méthodes classiques que les indications et l’organisation du diagnostic moléculaire s’en trouvent modifiées. Dans tous les champs de la médecine et en particulier en pédiatrie, cette nouvelle méthode offre une meilleure efficacité et une plus grande rapidité du diagnostic génétique, améliorant ainsi significativement la prise en charge des enfants et de leur famille. En parallèle, une réflexion sur les enjeux éthiques est menée pour encadrer au mieux les pratiques et éviter les dérives liées aux potentialités de cette technique. Dans cette revue, nous présentons le principe, les stratégies existantes ainsi que les difficultés et les enjeux du séquençage haut débit pour le diagnostic moléculaire dans les maladies génétiques. Summary The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to rethink their diagnostic strategies, until now based on the Sanger sequencing routine. Several high-throughput approaches are available from the sequencing of a gene panel, to an exome, or even a genome. In all cases, a tremendous amount of data is generated, which has to be filtered, interpreted and analyzed using powerful bioinformatics tools. In parallel, ethical considerations are raised to avoid the potential drifts of these powerful approaches. In all medical fields, and particularly in pediatrics, this new strategy offers better efficacy and faster mutation identification, allowing better support and care for patients and their families and even improving genetic counseling. In the present paper, we discuss the different NGS-based approaches and strategies as well as the issues involved in these new technologies applied to molecular diagnosis of rare diseases. Altogether, rare diseases affect more than 3 million people in France and are responsible for about one-third of childhood deaths. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To evaluate the caregivers’ opinions regarding decision-making in termination of pregnancy (TOP) for fetal anomaly. Material and methods: Questionnaire survey using a semi-structured survey based on visual analogue scales, sent to all multidisciplinary centres for prenatal diagnosis in France. Answers were received from 26 centres nation-wide. Results: Response rate was 39% (213 responses received over 550 questionnaires sent). Fifty-five percent of respondents were women, 90% physicians, 7,5% midwives. A vast majority (69.8%) believes that their own convictions play a bigger role in decision in real practice than in their ideal. The major decisional factors in decision-making for TOP are: the long-term prognosis of the anomaly, a specialized opinion on its curability, the quality of the information given to the future parents, their expressed opinion, the existence of a multidisciplinary decision, the ability of the future parents to understand the medical data, the obtention of a medical consensus, the proof level of the medical information. For only 55% of the respondents, the current legal framework is adequate to manage the situations that result from prenatal diagnostic practices today. The question of late third-trimester TOP raises ethical debate: over a third (37%) see no ethical difference between TOP and withdrawal of care during the neonatal period; the majority (48% versus 43%) feel that ethically speaking a neonate and a foetus at 39weeks gestational age (GA) should not be treated differently; 37% of the respondents feel that current practice is likely to lead to eugenism. Discussion and conclusion: As far as TOP is concerned, the huge discrepancies in responses from the professionals highlight the ongoing ethical debate, especially concerning the concept of informed choice in TOP, which we believe should be entirely revisited. [Copyright &y& Elsevier]

Abstract: This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3) prenatal and preimplantatory diagnosis for late onset genetic diseases and the use of pangenomic tests in prenatal diagnosis, (4) direct-to-consumer genetic testing, (5) population screening in the age of genomic medicine and (6) incidental findings when genetic testing are used. [ABSTRACT FROM AUTHOR]

What are the ethical issues in connection with the support of the most vulnerable people in a context of health crisis, forcing them to be confined? Because the concept of vulnerability is broad and complex, the " Espace éthique PACA-Corse " (PACA-Corsica Ethical Structure) has taken a particular interest in the care of children with disabilities, children entrusted to child welfare services and people with psychiatric disorders. Confinement has led to a reorganisation of the access to healthcare services and medico-social support, possibly revealing or aggravating some situations of vulnerability, or even pushing aside certain people. Those most isolated or at risk of abuse may have experienced a double confinement. How to identify and respond to the needs of people already in vulnerable situations before confinement, who, isolated in the epidemic context, have seen their vulnerabilities increase? While new ways of working have been introduced in times of containment, some were interesting, others have shown their limits. The challenge was to find the right measure to address the specificity of each situation, to activate care networks in an effective and supportive manner, despite limited resources and the emergency context. The difficulty was to make protocols and care values coexist, acting in a reactive and creative way. While revealing vulnerabilities, this period has required both humility toward uncertainty and a duty of responsibility to care for those most in need., (© 2020 Elsevier Masson SAS. All rights reserved.)

The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to rethink their diagnostic strategies, until now based on the Sanger sequencing routine. Several high-throughput approaches are available from the sequencing of a gene panel, to an exome, or even a genome. In all cases, a tremendous amount of data is generated, which has to be filtered, interpreted and analyzed using powerful bioinformatics tools. In parallel, ethical considerations are raised to avoid the potential drifts of these powerful approaches. In all medical fields, and particularly in pediatrics, this new strategy offers better efficacy and faster mutation identification, allowing better support and care for patients and their families and even improving genetic counseling. In the present paper, we discuss the different NGS-based approaches and strategies as well as the issues involved in these new technologies applied to molecular diagnosis of rare diseases. Altogether, rare diseases affect more than 3 million people in France and are responsible for about one-third of childhood deaths., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3) prenatal and preimplantatory diagnosis for late onset genetic diseases and the use of pangenomic tests in prenatal diagnosis, (4) direct-to-consumer genetic testing, (5) population screening in the age of genomic medicine and (6) incidental findings when genetic testing are used., (Copyright © 2009 Elsevier Masson SAS. All rights reserved.)

The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-q13. Rare cases result from paternal disomy. In 30% of patients, neither maternal by inherited deletion, nor paternal disomy, can be found. In this category of patients recurrence risk for sibs is high and molecular mechanisms are not completely known. They appear to be more complex than previously suggested. It is clear that this syndrome is a genetically heterogeneous group. The main example of genomic imprinting in human pathology, Angelman syndrome is now a model in research for understanding molecular mechanisms underlying imprinting.

In 61 patients in whom high doses of corticoids had been administered owing to various indications, the hemodynamic modifications caused by this injection were studied. The corticoids administered were : hydrocortisone hemisucccinate (150 mg/kg), methyl prednisolone sulfate (30 mg/kg), prednisone sodium m sulfobenzoate (50 mg/kg), prednisolone sodium m sulfobenzoate (35 mg/kg) and dexamethasone phosphate (2 mg and 6 mg/kg). The results study the modifications caused by each drug on heart rate, arterial blood pressure, cardiac output, systolic stroke volume and peripheral vascular resistance. The expression of the results is given as a percentage of the variation with statistical study. Methyl-prednisolone sulfobenzoate only leads to slightly marked hemodynamic effects : the four other compounds studied have definite hemodynamic effects, of variable intensity and duration. The most important variations are noted with dexametasone phosphate. From these results, the indications and results of the use of corticoids in states of shock are discussed.