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Resume L’objectif est de preciser l’epidemiologie du deficit auditif chez les patients atteints d’osteogenese imparfaite (OI) afin de mieux les prendre en charge. Nous avons realise une revue de la litterature analysant les donnees de 15 series de patients. La prevalence de la surdite chez les patients atteints d’OI est tres variable, allant de 2 a 94,1 %. Typiquement, la surdite est de transmission chez les patients jeunes alors qu’elle est de perception chez les patients plus âges. La prevalence du deficit auditif augmente avec l’âge mais a partir de 50 ans, cette incidence augmente peu et evolue rarement jusqu’a la cophose. La surdite se manifeste le plus souvent de maniere bilaterale, sans etre forcement symetrique. Il n’y a pas de correlation entre la nature de la mutation (COL1A1/COL1A2), la prevalence, le type, la severite du deficit auditif ou l’âge du debut des symptomes et il existe une variabilite intra-familiale. Il n’y a pas non plus de correlation entre le gene mute, le type de mutation et le phenotype auditif. La frequence, le type et la severite du deficit auditif n’est pas reliee aux autres caracteristiques cliniques des patients. La prevalence de la surdite depend du type d’OI : elle est plus elevee dans le type I et plus faible dans le type IV. Chez les enfants atteintes d’OI, l’incidence de l’otite sero-muqueuse semble plus elevee, en rapport avec la dysmorphie crânio-faciale associee. Un depistage auditif avant l’âge de 5 ans et un suivi au long cours sont recommandes.

Item does not contain fulltext Current guidelines of the European Society of Cardiology advocate regular physical activity as a Class IA recommendation for the prevention and treatment of cardiovascular disease. Despite its undisputed multitude of beneficial effects, competitive athletes with arterial hypertension may be exposed to an increased risk of cardiovascular events. This document is an update of the 2005 recommendations and will give guidance to physicians who have to decide on the risk of an athlete during sport participation.

Item does not contain fulltext Owing to its undisputed multitude of beneficial effects, European Society of Cardiology guidelines advocate regular physical activity as a class IA recommendation for the prevention and treatment of cardiovascular disease. Nonetheless, competitive athletes with arterial hypertension may be exposed to an increased risk of cardiovascular events. Guidance to physicians will be given in this summary of our recently published recommendations for participation in competitive sports of athletes with arterial hypertension.

The goal is to clarify the epidemiology of hearing loss in patients with osteogenesis imperfecta (OI), so as to improve management. A literature review analyzed data from 15 patient series. Hearing loss prevalence in OI varied widely, from 2% to 94.1%. Typically, hearing loss was conductive in young patients and sensorineural in older patients. Prevalence increased with age, but after 50 years the increase was slight, and seldom became total. Hearing loss was usually bilateral, but not necessarily symmetrical. There were no correlations between type of mutation (COL1A1 or COL1A2), prevalence, type or severity of hearing loss, or age of symptom onset; there was intra-familial variability. There was also no correlation between mutated gene, type of mutation and auditory phenotype. Frequency, type and severity of hearing loss were unrelated to other clinical parameters. Hearing loss prevalence depended on type of OI: higher in type I and lower in type IV. Incidence of otitis media was higher in children with OI, related to the associated craniofacial dysmorphia. Hearing screening before 5 years of age with long-term follow-up are recommended.

Exercise is a major stress for the cardiovascular system, and therefore many adverse cardiac events can occur during intense exercise. Thus it makes sense to perform maximal exercise testing when assessing an athlete presenting with exertional symptoms, with a known cardiac disease, or for pre-participation evaluation. Nevertheless, the limits of exercise testing must be kept in mind. Exercise testing has a high rate of false-positive results for identifying ischaemia in an asymptomatic athlete. The value of exercise testing in the evaluation of arrhythmias is proved, but the constraints of an exercise test in a laboratory do not reflect those induced on the field. It seems more appropriate to analyse the kinetics of blood pressure (BP) responses during exercise testing rather than to check only the maximal systolic BP. Regular intense training may prolong QTc duration; nevertheless, because of the lack of specific studies on athletes, the same interpretation of QT responses to exercise validated in the general population is used for athletes.

Background Few studies addressed to the evolution of cardiac function during a multistage ultra-long duration exercise (MULDE). Methods Serial echocardiographic assessment of cardiac function was performed in male healthy subjects during the 2014 Marathon des Sables before the race (T1), at the second (T2) and fifth (T3) arrival (236 km) then after 48 h recovery. Analysis were performed by 2 sonographers blind for the results of the other and the time of measure. Statistical analysis was performed using ANOVA-RM to compare the evolution of the different parameters. Results Among the 20 athletes, 18 completed the study (mean age 42.4, median 42). RR intervals and (Left ventricular End Diastolic Volume (Simpson) (LVEDV) changed during the race and were correlated (r2 = 0.539, P Table 1 ). Conclusions 48 h after a MULDE, we observed a drop in heart rate and contractility response to preload. The evolution of these parameters could be explained by a beta-receptors desensitization. These data need to be confirmed by other studies.

The behavioral goals of the coronary patient require active management by the cardiologist. Every smoker must be clearly informed about the cardiovascular consequences of smoking and the major benefits of smoking cessation. The only advice to "quit smoking" is not enough. Validated "treatments" (cognitive-behavioral therapy, nicotine replacement therapy, varenicline, bupropion) must be used, with a precise strategy and prolonged follow-up. All drugs assistance can be prescribed in coronary patients and nicotine replacement therapy can even be used just after a myocardial infarction. Nutrition plays a significant role in cardiovascular prevention. Counseling today is based on solid evidence, although evidence is harder to obtain than with drugs. It should no longer be advisable only to "suppress cooked fats and starches" because these recommendations are unclear and/or false. Today we need positive food-based benchmarks and complex dietary patterns in which fruits and vegetables, fish, whole grains, pulses, nuts, olive oil and a diet closed to the Mediterranean diet. Dairy products have their place. Sugary foods should be limited especially in case of overweight and metabolic syndrome. Physical activity is part of good nutrition. Indeed, the fight against a very sedentary lifestyle and physical inactivity in coronary and heart failure patients is part of the lifelong treatment of these patients. The cardiologist and the general practitioner must be much more involved in their prescription and education to hope for good compliance.

The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multidisciplinary centers for prenatal diagnosis (MCPDs) were established in France. A database of 975 cases of TS diagnosed between 1980 and 2012 was created from 21 French cytogenetics laboratories. For each case, the karyotype indication, maternal age, year of prenatal testing, sampling procedure, karyotype, associated ultrasound findings, and outcomes were recorded. Karyotypes were mainly performed because of abnormal sonographic findings (84%). Before 1997, there were no changes in the rate of termination (90%) of affected fetuses. After 1997, the rate fell to 80%. This decrease was mainly observed in cases of mosaicism, incidental diagnosis, and in later gestations. US abnormalities were more likely to be associated with a full 45,X karyotype. There was an evolution in the way genetic counseling was performed following prenatal diagnosis of Turner syndrome that coincided with the opening of MCPDs in France. This resulted in a decrease in the rate of termination of affected fetuses.

Objective The 22q11.2 deletion (del22q11.2) is one of the most common microdeletions. We performed a collaborative, retrospective analysis in France of prenatal diagnoses and outcomes of fetuses carrying the del22q11.2. Methods A total of 272 fetuses were included. Data on prenatal diagnosis, ultrasound findings, pathological features, outcomes and inheritance were analyzed. Results The mean time of prenatal diagnosis was 25.6 ± 6 weeks of gestation. Most of the diagnoses (86.8%) were prompted by abnormal ultrasound findings [heart defects (HDs), in 83.8% of cases]. On fetal autopsy, HDs were again the most common disease feature, but thymus, kidney abnormalities and facial dysmorphism were also described. The deletion was inherited in 27% of cases. Termination of pregnancy (TOP) occurred in 68.9% of cases and did not appear to depend on the inheritance status. However, early diagnosis was associated with a higher TOP rate. Conclusion This is the largest cohort of prenatal del22q11.2 diagnoses. As in postnatally diagnosed cases, HDs were the most frequently observed abnormalities. However, thymus and kidney abnormalities and polyhydramnios should also be screened for in the prenatal diagnosis of del22q11.2. Only the time of diagnosis appeared to be strongly associated with the pregnancy outcome: the earlier the diagnosis, the higher the TOP rate. © 2014 John Wiley & Sons, Ltd.

National audience

International audience; Preparticipation screening programmes for underlying cardiac pathologies are now commonplace for many international sporting organisations. However, providing medical clearance for an asymptomatic athlete without a family history of sudden cardiac death (SCD) is especially challenging when the athlete demonstrates particularly abnormal repolarisation patterns, highly suggestive of an inherited cardiomyopathy or channelopathy. Deep T-wave inversions of ≥ 2 contiguous anterior or lateral leads (but not aVR, and III) are of major concern for sports cardiologists who advise referring team physicians, as these ECG alterations are a recognised manifestation of hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). Subsequently, inverted T-waves may represent the first and only sign of an inherited heart muscle disease, in the absence of any other features and before structural changes in the heart can be detected. However, to date, there remains little evidence that deep T-wave inversions are always pathognomonic of either a cardiomyopathy or an ion channel disorder in an asymptomatic athlete following long-term follow-up. This paper aims to provide a systematic review of the prevalence of T-wave inversion in athletes and examine T-wave inversion and its relationship to structural heart disease, notably HCM and ARVC with a view to identify young athletes at risk of SCD during sport. Finally, the review proposes clinical management pathways (including genetic testing) for asymptomatic athletes demonstrating significant T-wave inversion with structurally normal hearts.

La technique de fecondation in vitro separant les ovocytes en deux lots traites soit par la fecondation conventionnelle soit par micro-injection, est appelee technique mi-FIV-mi-ICSI. Nous avons repris 487 tentatives de ce type issues de six centres d'Assistance medicale a la procreation francais (AMP). La technique mi-FIV-mi-ICSI est pratiquee dans 5,6 % des cas. Le taux de fecondation des ovocytes micro-injectes est significativement superieur (p < 0,01) a celui des ovocytes insemines classiquement, 72,6 % versus 53,4 %. Un echec de fecondation est observe uniquement en mi-FIV dans 21,6 % des cas, ce qui a permis d'eviter un echec de fecondation complet en FIV conventionnelle en ayant decide de proposer au couple la technique mi-FIV-mi-ICSI. En revanche, dans 75,2 % des cas, la fecondation est retrouvee pour les deux lots d'ovocytes. Les taux de grossesse globaux des centres se sont en moyenne ameliores depuis l'utilisation de la technique mi-FIV-mi-ICSI (33,1 % versus 28,9 %, p = 0,013) et les echecs de fecondation reduits (10,4 % versus 14,3 %, p = 0,019). Le taux de grossesse uniquement des cas traites en mi-FIV-mi-ICSI est tres eleve a 39,8 % mais correspond a un effectif selectionne. Les indications de la technique mi-FIV-mi-ICSI restent a preciser notamment en ce qui concerne les indications masculines et idiopathiques.

Key technologies for advanced nuclear systems encompass high temperature structural materials, fast neutron resistant core materials, and specific reactor and power conversion technologies (intermediate heat exchanger, turbo-machinery, high temperature electrolytic or thermo-chemical water splitting processes, etc.). The main requirements for the materials to be used in these reactor systems are dimensional stability under irradiation, whether under stress (irradiation creep or relaxation) or without stress (swelling, growth), an acceptable evolution under ageing of the mechanical properties (tensile strength, ductility, creep resistance, fracture toughness, resilience) and a good behavior in corrosive environments (reactor coolant or process fluid). Other criteria for the materials are their cost to fabricate and to assemble, and their composition could be optimized in order for instance to present low-activation (or rapid desactivation) features which facilitate maintenance and disposal. These requirements have to be met under normal operating conditions, as well as in incidental and accidental conditions. These challenging requirements imply that in most cases, the use of conventional nuclear materials is excluded, even after optimization and a new range of materials has to be developed and qualified for nuclear use. This paper gives a brief overview of various materials that are essential to establish advanced systems feasibility and performance for in pile and out of pile applications, such as ferritic/martensitic steels (9–12% Cr), nickel based alloys (Haynes 230, Inconel 617, etc.), oxide dispersion strengthened ferritic/martensitic steels, and ceramics (SiC, TiC, etc.). This article gives also an insight into the various natures of R&D needed on advanced materials, including fundamental research to investigate basic physical and chemical phenomena occurring in normal and accidental operating conditions, lab-scale tests to characterize candidate materials mechanical properties and corrosion resistance, as well as component mock-up tests on technology loops to validate potential applications while accounting for mechanical design rules and manufacturing processes. The selection, assessment and validation of materials necessitate a large number of experiments, involving rare and expensive facilities such as research reactors, hot laboratories or corrosion loops. The modelling and the codification of the behaviour of materials will always involve the use of such technological experiments, but it is of utmost importance to develop also a predictive material science. Finally, the paper stresses the benefit of prospects of multilateral collaboration to join skills and share efforts of R&D to achieve in the nuclear field breakthroughs on materials that have already been achieved over the past decades in other industry sectors (aeronautics, metallurgy, chemistry, etc.).

Future fusion reactor and Generation IV fission reactor systems are designed and developed in worldwide programmes to investigate and assess their potential for realisation and contribution to the future energy needs beyond 2030 mostly involving the same partners. Huge scientific and financial effort is necessary to meet these objectives. First programmes have been launched in Generation IV International Forum (GIF) for fission and in the Broader Approach for fusion reactor system development. Except for the physics basis for the energy source, future fusion and fission reactors, in particular those with fast neutron core, face similar design issues and development needs. Therefore, the call for the identification of synergies became evident. Beyond ITER cooled by water, future fusion reactor systems will be designed for high-temperature helium and liquid metal cooling but also water including supercritical water and molten salt similar to those proposed for some of the six fission reactor concepts in GIF with their diverse coolants. Beside materials developments which are not discussed in this paper, design and performance of components and systems related to the diverse coolants including lifetime and maintenance aspects might offer significant potentials for synergies. Furthermore, the use of process heat for applications in addition to electricity production as well as their safety approaches can create synergistic design and development programmes. Therefore, an early identification of possible synergies in the relevant programmes should be endorsed to minimise the effort for future power plants in terms of investments and resources. In addition to a general overview of a possible synergistic work programme which promotes the interaction between fusion and fission programmes towards an integrated organisation of their design and R&D programmes, some specific remarks will be given for joint design tools, numerical code systems and joint experiments in support of common technologies.

International audience; The aim of this study was to evaluate whether endurance athletes who exhibit deep bradycardia are more prone to arrhythmias and reflex syncope than their non-bradycardic peers. 46 healthy men (ages 19-35) were divided into 3 groups based on whether they were sedentary (SED,6 h/week), and non-bradycardic (NB, resting heart rate (HR)≥60 bpm) or bradycardic (B, resting HR

Cancer is not the only disease where the question of the female fertility preservation is asked. In autoimmune diseases, alkylating agents are also used and it is now established that 20 g as a cumulative dose of cyclophosphamide is associated with premature ovarian failure in 50% of 20-year-old patients. Several strategies are discussed and offered to these patients to prevent the ovarian failure: GnRH agonist treatment, in vitro fertilization and embryos cryopreservation, oocytes cryopreservation and ovarian cortex cryopreservation. These techniques might also be associated one with the other. A survey was conducted in France in order to assess the practices realised in these diseases. Four centres were asked for these diseases, concerning 17 patients (mean age: 26.2 +/- 1.8 SEM [15-43]) and systemic lupus erythematosus was the most frequent disease (7/17). Ovarian cortex cryopreservation was realised for 6 patients. Embryos or oocytes cryopreservation was realised for 2 patients including one where ovarian cortex cryopreservation was associated. In 10 cases, considering the treatment and the patient's wish no fertility preservation was realised. Female fertility preservation in autoimmune diseases is a difficult question and a national registry, such as the one conducted by the GRECOT, can help to answer this question.

Male infertility is present in 50% of couple infertility. Diagnosis of infertility requires methodical and rigorous approach based upon knowledge of the pathophysiology and the causes of infertility.

Although the objective of the urologist is to correct the factors of male infertility and to favour natural procreation, the strategy must consider also the couple and the female aspects of infertility. Some types of male infertility require specific treatment. In severe cases, recent advances in medical assistance to procreation have changed the prognosis of male infertility. Pregnancy can be obtained by the means of gamet manipulation and spermatozoid selection. Nevertheless, such techniques expose to genetic disorders transmission. Subsequently, genetic assessment is required during male infertility management, especially for difficult cases.

Aunque el objetivo del urologo sigue siendo corregir los factores masculinos de infertilidad y dar prioridad a una reproduccion natural, el tratamiento debe inscribirse en el enfoque terapeutico de la pareja y tener en cuenta la fertilidad femenina. Algunas infertilidades masculinas tienen un tratamiento especifico. En los demas casos, sobre todo en los mas graves, los progresos recientes de la reproduccion asistida han modificado el pronostico de las infertilidades masculinas e incluso de las mixtas. La micromanipulacion de gametos permite sustraer los espermatozoides a las condiciones naturales de seleccion y de fecundacion, asi como obtener gestaciones clinicas en las situaciones mas complejas. No obstante, estas tecnicas exponen a la descendencia a una transmision de enfermedades geneticas. Este riesgo destaca la necesidad de una valoracion genetica de las infertilidades masculinas mas graves. Dicho estudio debe guiar al urologo para realizar un tratamiento rapido de la pareja, evitando las exploraciones inutiles y los tratamientos medicos o quirurgicos ineficaces.

La infertilidad masculina se encuentra presente en mas del 50% de los casos de infertilidad de la pareja, de forma aislada o no. Su diagnostico requiere un enfoque metodico y riguroso, basado en el conocimiento de los mecanismos anatomofisiologicos y de las causas potenciales de infertilidad.

El diagnostico de la infertilidad masculina requiere un enfoque metodico, y en primer lugar clinico, con la finalidad de identificar todos los factores potenciales de infertilidad. Las pruebas de laboratorio y radiologicas permiten confirmar uno o mas diagnosticos, asi como evaluar el pronostico y las posibilidades terapeuticas del trastorno.

Regular intensive exercise in athletes increases the relative risk of sudden cardiac death (SCD) compared with the relatively sedentary population. Most cases of SCD are due to silent cardiovascular diseases, and pre-participation screening of athletes at risk of SCD is thus of major importance. However, medical guidelines and recommendations differ widely between countries. In Italy, the National Health System recommends pre-participation screening for all competitive athletes including personal and family history, a physical examination, and a resting 12-lead electrocardiogram (ECG). In the United States, the American College of Cardiology and the American Heart Association recommend a pre-participation screening program limited to the use of specific questionnaires and a clinical examination. The value of a 12-lead ECG is debated based on issues surrounding cost-efficiency and feasibility. The aim of this review was to focus on (i) the incidence rate of cardiac diseases in relation to SCD; (ii) the value of conducting a questionnaire and a physical examination; (iii) the value of a 12-lead resting ECG; (iv) the importance of other cardiac evaluations in the prevention of SCD; and (v) the best practice for pre-participation screening.

The diagnosis of male infertility requires methodical approach which is primarily clinical, aimed at identifying all potential factors. Biological and radiological assessments allow diagnosis confirmation, and evaluation of both prognosis and therapeutic strategy.

La strategie de recherche et developpement en France sur les systemes nucleaires du futur donne la priorite aux systemes a neutrons rapides avec caloporteur sodium ou gaz (RNR-sodium, RNR-gaz) et cycle du combustible ferme, pour une production nucleaire durable dans la 2 e moitie du XXI e siecle. Le combustible et son recyclage sont au coeur des progres vises pour ces reacteurs a neutrons rapides: bruler tout l'uranium, regenerer le plutonium brule par conversion de l'uranium 238, minimiser la production de dechets radioactifs a vie longue, ameliorer la surete du coeur et maitriser les risques de proliferation associes au recyclage. La recherche et developpement sur le combustible et le cycle des deux systemes a neutrons rapides consideres comporte un important tronc commun (procedes de separation, proprietes des combustibles avec actinides mineurs) et des specificites liees a la technologie du combustible (tete de procede pour le traitement, re-fabrication) et du caloporteur (comportement en cas d'accident, phenomenologie des accidents graves). Le programme de recherche et developpement francais se donne pour objectif de faire pour ces systemes un choix d'options, dans la periode 2010-2012 pour la realisation d'un prototype vers 2020.

Resume Au point de vue epidemiologique l’effet benefique de l’activite physique est bien demontre dans la prevention primaire et secondaire de la maladie coronaire. Il est independant des autres facteurs de risque. Cependant, la pratique intensive et prolongee d’un sport n’est pas une assurance complete contre la survenue de problemes cardiologiques. La pratique reguliere et intense meme au long cours d’un sport n’exclut pas la necessite d’une surveillance. La mort subite du « sportif » represente le risque majeur de la pratique d’un sport. Apres 35–40 ans la cause de mort subite lors de l’exercice est la maladie coronaire. Chez les normotendus ainsi que chez l’hypertendu, l’activite physique s’accompagne d’une baisse des pressions arterielles. L’activite physique a un effet benefique sur la repartition des graisses en particulier viscerales et augmente la masse musculaire. Chez les sportifs, les taux de HDL–cholesterol sont plus eleves et ceux de LDL–cholesterol plus bas que chez les sedentaires. L’effet de l’activite physique seule sur les dyslipidemies semble modeste. En revanche, l’activite physique est benefique pour le diabetique de type 1. Pour le diabete de type 2 l’exercice augmente l’insulino-sensibilite. La pratique reguliere d’une activite physique moderee est globalement benefique. Elle doit etre encouragee et rentrer dans le cadre d’une lutte contre la sedentarite. Les rares accidents cardiovasculaires decrits lors de la pratique de sport sont dus a une pratique intense et inhabituelle chez un cardiaque ignore.

It is well known that oestrogens exert muscle anabolic and metabolic effects. Oestrogens act via specific oestrogen receptor (ER) proteins. The mainly represented oestrogen receptor alpha messenger ribonucleic acid subtype (ER(alpha) mRNA) was described in various tissues including the skeletal muscle. Moreover, it has been shown that endurance training significantly increases ER(alpha) mRNA levels in the female rat gastrocnemius muscle. The aim of this study was to determine if this training programme also modifies ER(alpha) mRNA levels in muscles with different typology, the soleus (slow twitch muscle), extensor digitorum longus (fast twitch muscle) and gastrocnemius (intermediate muscle). So far, two groups of Wistar female rats were set up: untrained (u) (n = 7), and trained (e) (n = 7). The endurance training programme was performed for 7 weeks, 5 days per week and consisted of 1 h of continuous running on an adapted motor-driven treadmill involving progressive intensity and gradient of the treadmill. Three different skeletal muscles, extensor digitorum longus (E), gastrocnemius (G) and soleus (S), were isolated and weighed in the untrained (Eu, Gu and Su) and trained group (Ee, Ge and Se). Semi-quantification of ER(alpha) mRNA levels was performed by the reverse transcriptase-polymerase chain reaction (RT-PCR) technique. In order to attest the efficiency of our endurance training programme, the citrate synthase activity (CS) of each muscle was measured by a fluorimetric method. The CS activity was significantly increased with training in the gastrocnemius [100.00 +/- 4.99% in Gu (n = 6) vs. 138.10 +/- 8.82% in Ge (n = 6), P < 0.01] and in the soleus [100.00 +/- 2.92% in Su (n = 7) vs. 115.90 +/- 3.71% in Se (n = 7), P < 0.01] but not in the extensor digitorum longus [100.00 +/- 1.87% in Eu (n = 7) vs. 96.90 +/- 1.55% in Ee (n = 7)]. Concerning the influence of muscle type on ER(alpha) mRNA level (1) in the untrained group, the ER(alpha) mRNA level was significantly higher in soleus muscle compared with gastrocnemius and extensor digitorum longus muscles [0.43 +/- 0.04 in Su (n = 7) compared with 0.31 +/- 0.03 in Gu (n = 6) and 0.21 +/- 0.03 in Eu (n = 7), P < 0.05; P < 0.05); 2] in the trained group, the ER(alpha) mRNA level was significantly higher insoleus and gastrocnemius muscles compared with extensor digitorum longus muscle [0.43 +/- 0.06 in Se (n = 7) and 0.49 +/- 0.05 in Ge (n = 6) vs. 0.12 +/- 0.01 in Ee (n = 7), P < 0.05; P < 0.05]. Indeed, after training, the ER(alpha) mRNA level significantly increased in gastrocnemius muscle [0.31 +/- 0.03 in Gu(n = 6) vs. 0.49 +/- 0.05 in Ge (n = 6), P < 0.01], significantly decreased in extensor digitorum longus [0.21 +/- 0.03 in Eu (n = 7) vs. 0.12 +/- 0.01 in Ee (n = 7), P < 0.01] and was not significantly modified in soleus [0.43 +/- 0.04 in Su (n = 7) vs. 0.43 +/- 0.06 in Se (n = 7)]. The differences in ER(alpha) mRNA level between trained and untrained animals indicate training-induced effects that are specific to the skeletal muscle type.

Endurance training induces, in female rats, alterations of oestrous cycle with decrease in plasma oestradiol levels. Moreover, it is well known that oestradiol concentrations modify oestrogen receptor levels. In order to further explain the effects of oestrogens on skeletal muscles, we hypothesized that endurance training modifies the levels of oestrogen receptor alpha messenger ribonucleic acid (ER alpha mRNA) in rat gastrocnemius muscle. Wistar rats were separated into four groups: male controls (C(m)) (n=7), female controls (C(f)) (n=6), male trained (E(m)) (n=7) and female trained (E(f)) (n=6). The endurance training programme was performed for 7 weeks, 5 days week-1 and consisted of 1 h of continuous running on an adapted motor-driven treadmill. At the end of the training session, the gastrocnemius muscle was isolated, weighed and semiquantification of ER alpha mRNA was performed using the reverse transcriptase-polymerase chain reaction (RT-PCR) technique. The citrate synthase (CS) activity of the gastrocnemius muscle was measured by a fluorimetric method. The CS activity of the male and female gastrocnemius muscle, respectively, 100 +/- 7% in C(m) (n=7) vs. 120 +/- 14% in E(m) (n=6, P < 0.01) and 100 +/- 13% in C(f) (n=6) vs. 138 +/- 23% in E(f) (n=6, P < 0.01) was significantly increased after 7 weeks of training. The ER alpha mRNA levels were significantly increased in E(f) compared with C(f) (0.49 +/- 0.15 vs. 0.31 +/- 0.11, P < 0.01) but not in E(m) compared with C(m) (0.37 +/- 0.15 vs. 0.37 +/- 0.13). In conclusion, these results demonstrate that 7 weeks of endurance training increased the level of transcripts encoding ER alpha in rats with the increase restricted to the females.

International audience; The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multidisciplinary centers for prenatal diagnosis (MCPDs) were established in France. A database of 975 cases of TS diagnosed between 1980 and 2012 was created from 21 French cytogenetics laboratories. For each case, the karyotype indication, maternal age, year of prenatal testing, sampling procedure, karyotype, associated ultrasound findings, and outcomes were recorded. Karyotypes were mainly performed because of abnormal sonographic findings (84%). Before 1997, there were no changes in the rate of termination (90%) of affected fetuses. After 1997, the rate fell to 80%. This decrease was mainly observed in cases of mosaicism, incidental diagnosis, and in later gestations. US abnormalities were more likely to be associated with a full 45,X karyotype. There was an evolution in the way genetic counseling was performed following prenatal diagnosis of Turner syndrome that coincided with the opening of MCPDs in France. This resulted in a decrease in the rate of termination of affected fetuses.

To assess the frequency of chromosomal aberrations in French candidates for intracytoplasmic sperm injection (ICSI), and to explore the existence of a female chromosomal factor in some cases of couple infertility, a collaborative retrospective clinical and cytogenetic study was performed, launched by the Association des Cytogénéticiens de Langue Franciaise (ACLF). The karyotypes of 3208 patients [2196 men (68.4%), 1012 (31.6%) women] included in ICSI programmes over a 3-year period in France were collected. A total of 183 aberrant karyotypes was diagnosed, corresponding to an abnormality frequency of 6.1% (134/2196) for men and 4.84% (49/1012) for women. The following frequencies of abnormalities were observed respectively for men and women: 1.23% (n = 27) and 0.69% (n = 7) for reciprocal translocations, 0.82% (n = 18) and 0.69% (n = 7) for Robertsonian translocations, 0.13% (n = 3) and 0.69% (n = 7) for inversions, 3.32% (n = 73) and 2.77% (n = 28) for numerical sex chromosome aberrations, and 0.59% (n = 13) and 0% for other structural aberrations. Among the male patients of this latter group, 0.40% (n = 9) had a Y chromosome abnormality. Among the male patients with numerical sex chromosome abnormalities, 2.23% (n = 49) were 47,XXY, 0.32% (n = 7) were 47,XYY, and 0.77% (n = 17) had a mosaicism for numerical sex chromosome anomalies. All the female patients with sex chromosome abnormalities (2.77%, n = 28) had mosaicism for numerical sex chromosome anomalies. Even if these cases-the significance of which was sometimes questioned-were disregarded in the analysis, 2.08% (21/1012) of abnormal karyotypes remained in women. An overall increased frequency of chromosomal aberrations was found, and this confirmed that in some cases of poor reproductive outcome there may be a contribution of maternal chromosome aberrations. Indeed, the existence of a chromosome abnormality in the female partner was associated with the group of infertile men in which there was no apparent cause of infertility.

Resume Objectif. II s'agissait d'etablir un consensus des membres de la Societe francaise de medecine du sport concernant les methodes de determination des seuils lactiques et ventilatoires. Methodologie. Un groupe de travail s'est reuni pour etablir une proposition de consensus qui a ete presentee lors du XIX e Congres de la Societe francaise de medecine du sport (SFMS). Les membres de la SFMS ont pu adresser aux auteurs toutes remarques qu'ils jugeaient opportunes. Le document present tient compte de ces remarques. Synthese. Les methodes utilisant la lactatemie ou la ventilation sont les methodes de reference pour la determination de plages d'intensite utiles a la programmation de l'entrainement physique personnalise. Les plus courantes permettent de determiner deux seuils lactiques et deux seuils ventilatoires. Les choix methodologiques de determination des seuils (choix du protocole de test, de l'ergometre, du site de prelevement sanguin, de la technique de determination graphique ou numerique, etc.) peuvent modifier la valeur des seuils. Ces choix sont faits par l'experimentateur. Ils doivent etre individualises et adaptes au sujet expertise ainsi qu'a la specificite de son activite physique. La technique de determination des seuils lactiques et ventilatoires peut etre visuelle ou informatisee. Le premier seuil (lactique ou ventilatoire) est essentiellement utile a la programmation de l'entrainement physique des malades. Le deuxieme seuil (lactique ou ventilatoire) est plus particulierement utilise pour la programmation de l'entrainement physique du sportif.

We report the case of monozygotic (MZ) male twin fetuses with different Down syndrome (DS) phenotypes. Prenatal fetal sonography showed a bichorial biamniotic pregnancy with increased nuchal translucency in twin A and a cervical cystic hygroma and heart defect in twin B. Cytogenetic analysis performed after double amniocentesis showed free and homogeneous trisomy 21 in both twins. Monozygosity was confirmed by molecular analysis. The pregnancy was terminated at 17 weeks of gestation (WG). Postmortem analysis confirmed the phenotypic discordance. To our knowledge, this is the first reported prenatal diagnosis of MZ male twins with different Down syndrome phenotypes but identical karyotypes. We discuss the mechanisms involved in phenotypic discordance of monozygotic twins and particularly the role of environmental factors.

Infertility in patients with cystic fibrosis has been attributed to the congenital bilateral absence of the vas deferens. We studied the vas deferens in cystic fibrosis fetuses to determine whether this condition could be related to primary developmental abnormalities or to secondary obstructions.Two cystic fibrosis male fetuses, with deltaF508+/+ and deltaF508/G542X genetic mutations, were examined after abortion at 12 and 18 weeks, respectively. The lumens of the vas deferens were measured using histological serial sections in the 2 cystic fibrosis fetuses and in 6 control fetuses.The vas deferens of cystic fibrosis and control fetuses showed a similar development. The diameters of the lumens were smaller at the extremities than in the medial part of the duct in cystic fibrosis and in control fetuses. No epithelial necrosis, focal dilatation or fibrous stenosis could be detected at any age. Secretions were observed in the lumen of the vas deferens of the homozygous fetus, but no obstruction was detected.The normal organogenesis of the vas deferens, the presence of secretions filling the lumen of the deltaF508 +/+ fetus and the high proportion of normal ducts reported in prepubertal male cystic fibrosis patients suggest a mechanism of luminal obstruction resulting in duct atrophy and infertility in male adults with cystic fibrosis. The term "atresia" or "inspissation" should be used in cases of congenital bilateral absence of the vas deferens associated with cystic fibrosis mutations, whereas the term "agenesis" should be used for cases of congenital bilateral absence of the vas deferens associated with urogenital abnormalities in which regional defects occur during organogenesis.

Study question What are the outcomes of French emergency IVF procedures involving embryo freezing for fertility preservation before gonadotoxic treatment? Summary answer Pregnancy rates after emergency IVF, cryopreservation of embryos, storage, thawing and embryo transfer (embryo transfer), in the specific context of the preservation of female fertility, seem to be similar to those reported for infertile couples undergoing ART. Study design, size, duration A French retrospective multicentre cohort study initiated by the GRECOT network-the French Study Group for Ovarian and Testicular Cryopreservation. We sent an e-mail survey to the 97 French centres performing the assisted reproduction technique in 2011, asking whether the centre performed emergency IVF and requesting information about the patients' characteristics, indications, IVF cycles and laboratory and follow-up data. The response rate was 53.6% (52/97). Participants/materials, setting, methods Fourteen French centres reported that they performed emergency IVF (56 cycles in total) before gonadotoxic treatment, between 1999 and July 2011, in 52 patients. Main results and the role of chance The patients had a mean age of 28.9 ± 4.3 years, and a median length of relationship of 3 years (1 month-15 years). Emergency IVF was indicated for haematological cancer (42%), brain tumour (23%), sarcoma (3.8%), mesothelioma (n = 1) and bowel cancer (n = 1). Gynaecological problems accounted for 17% of indications. In 7.7% of cases, emergency IVF was performed for autoimmune diseases. Among the 52 patients concerned, 28% (n = 14) had undergone previous courses of chemotherapy before beginning controlled ovarian stimulation (COS). The initiation of gonadotoxic treatment had to be delayed in 34% of the patients (n = 19). In total, 56 cycles were initiated. The mean duration of stimulation was 11.2 ± 2.5 days, with a mean peak estradiol concentration on the day on which ovulation was triggered of 1640 ± 1028 pg/ml. Three cycles were cancelled due to ovarian hyperstimulation syndrome (n = 1), poor response (n = 1) and treatment error (n = 1). A mean of 8.2 ± 4.8 oocytes were retrieved, with 6.1 ± 4.2 mature oocytes and 4.4 ± 3.3 pronuclear-stage embryos per cycle. The mean number of embryos frozen per cycle was 4.2 ± 3.1. During follow-up, three patients died from the consequences of their disease. For the 49 surviving patients, 22.5% of the couples concerned (n = 11) requested embryo replacement. A total of 33 embryos were thawed with a post-thawing survival rate of 76%. Embryo replacement was finally performed for 10 couples with a total of 25 embryos transferred, leading to one biochemical pregnancy, one miscarriage and three live births. Clinical pregnancy rate and live birth per couple who wanted a pregnancy after cancer were, respectively, 36% (95% CI = 10.9-69.2%) and 27% (95% CI = 6.0-61%). Limitations, reasons for caution The overall response rate for clinics was 53.6%. Therefore, it is not only that patients may not have been included, but also that those that were included were biased towards the University sector with a response rate of 83% (25/30) for a small number of patients. Wider implications of the findings According to literature, malignant disease is a risk factor for a poor response to COS. However, patients having emergency IVF before gonadotoxic treatment have a reasonable chance of pregnancy after embryo replacement. Embryo freezing is a valuable approach that should be included among the strategies used to preserve fertility. Study funding/competing interest(s) No external funding was sought for this study. None of the authors has any conflict of interest to declare.

study question: Does DPY19L2 status influence intracytoplasmic sperm injection (ICSI) outcomes with or without assisted oocyte activation (AOA)? summary answer: DPY19L2 mutations have no major impact on ICSI outcomes in globozoospermic patients. what is known already: Globozoospermia is a rare and severe teratozoospermia characterized by round-headed spermatozoa lacking an acrosome. Recently, it has been shown that DPY19L2 mutations can be found in a vast majority of, but not all, globozoospermic patients (66.7%). These patients suffer from primary infertility due to a sperm-related oocyte activation deficiency secondary to the absence of an acrosome that can be overcome by the application of AOA. study design, size, duration: Cohort study, retrospective, 34 patients, 83 cycles. materials, setting, methods: Clinical and biologic data were collected from 29 patients mutated for DPY19L2 and 5 nonmutated patients. In total, 35 ICSI cycles using AOA and 48 conventional ICSI cycles were included in the analysis. Patients were divided into groups according to whether or not they were mutated for DPY19L2 and whether or not they received AOA. main results and the role of chance: Regardless of the presence of a DPY19L2 mutation, the fertilization rates with AOA are restored to normal when compared with conventional ICSI in our cohort of globozoospermic patients. Also, when performing ICSI plus AOA, both mutated and non-mutated cases have similar positive hCG rates, ongoing pregnancy rates and live birth rates per transfer. On the contrary, the fertilization rate in globozoospermic patients using conventional ICSI is correlated with the presence of a DPY19L2 mutation, with slightly better, although still very low, fertilization rates in patients carrying a DPY19L2 mutation. Nevertheless, when performing conventional ICSI, both mutated and non-mutated cases have similar very low positive hCG rates, ongoing pregnancy rates and live birth rates per transfer. limitations: A limitation of this study is the low number of included non-mutated cases. wider implications of the findings: We propose a pathway for the clinical management of globozoospermic patients depending on the phenotype that includes several diagnostic and therapeutic steps. study funding/competing interest(s): None.

Resume L'exercice physique en perturbant l'homeostasie de l'organisme induit des adaptations fonctionnelles mais aussi, en cas de pratique sportive intense, morphologiques au niveau du myocarde et de l'arbre vasculaire. L'importance de ces adaptations varie en fonction de la reponse du patrimoine genetique individuel aux contraintes hemodynamiques et neurohormonales. Chez le sportif de haut niveau d'entrainement, ces adaptations expliquent pour une grande part l'amelioration des performances aerobies. Ainsi, la fonction diastolique amelioree et l'hypertrophie dilatation harmonieuse moderee de ses quatre cavites favorisent le remplissage du cœur. L'ejection ventriculaire est aussi favorisee par une meilleure qualite de contraction et une moindre resistance vasculaire due a une angiogenese et une vasodilatation accrue. Dans la majeure partie des cas, ces adaptations, en particulier fonctionnelles, sont benefiques. Cependant des limites sont parfois observees sous la forme d'une intolerance a l'orthostatisme et/ou de troubles du rythme, le plus souvent supraventriculaires. Cette symptomatologie etant amelioree par la diminution de l'entrainement.

Resume La pratique reguliere et suffisamment intense d'un exercice physique est a l'origine d'adaptations au niveau du systeme cardiovasculaire. Parmi celles-ci, «l'hypertrophie cardiaque du sportif, qui comme toutes les autres formes d'hypertrophies secondaires est un mecanisme d'adaptation physiologique a une surcharge hemodynamique, est classiquement decrite. Les etudes experimentales et l'utilisation des techniques de biologie moleculaire ont permis de preciser que l'hypertrophie cardiaque secondaire est un facteur d'adaptation non seulement quantitatif mais aussi qualitatif. La premiere partie de cette revue rappelle les differences morphologiques et fonctionnelles observees au niveau experimental d'une part entre l'hypertrophie cardiaque due a l'entrainement physique et les autres causes d'hypertrophie souvent definies comme «pathologiques et d'autre part entre le muscle cardiaque et le muscle strie squelettique soumis au meme type d'entrainement. La seconde partie de cet expose decrit les caracteristiques de l'hypertrophie cardiaque due a l'entrainement observees chez l'homme. L'exploration de celle-ci a grandement beneficie de l'avenement de l'echocardiographie, methode fiable, non invasive et facilement repetitive chez le sportif. Cette hypertrophie qui est observee de facon inconstante et ce quel que soit l'âge du sportif peut etre decrite comme une hypertrophie-dilatation moderee et harmonieuse touchant les quatre cavites cardiaques sans alteration associee des fonctions systolique et diastolique. La part respective des facteurs declenchants de cette hypertrophie cardiaque, hemodynamique, hormonaux et genetique reste encore discutee.

International audience