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Le Kremlin-Bicêtre, France

Teboul J.-L.,Hopitaux universitaires Paris Sud | Teboul J.-L.,University Paris - Sud
Intensive Care Medicine | Year: 2014

Introduction: The concept of weaning-induced cardiac dysfunction emerged 26 years ago with the publication of a clinical study conducted by François Lemaire and collaborators. Objectives: One objective of this article is to remember the results and the historical context under which our pivotal study was conducted. Another objective is to review some of the subsequent studies that aimed to analyze the underlying mechanisms, to noninvasively detect the cardiac origin of weaning failure, and to propose specific therapies enabling weaning success. Conclusion: Weaning-induced cardiac dysfunction has become an established cause of weaning failure. Underlying mechanisms may differ from one patient to another. Important progress has already been made in its diagnosis thanks to relevant clinical research studies. Ongoing and future technological advances in ultrasonography and in biomarker research should certainly help in diagnosing weaning induced-pulmonary edema and in identifying the main mechanisms responsible for its development. Progress on appropriate therapeutic options on an individual basis is still expected. © 2014 Springer-Verlag and ESICM. Source


Martinovic J.,Hopitaux universitaires Paris Sud
European Journal of Human Genetics | Year: 2015

To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), including a variant in a new candidate gene, syntaxin 7. In view of this high frequency, revision of diagnostic strategies and reoccurrence risk should be considered not only for the recurrent forms, but also for the sporadic cases of MCD.European Journal of Human Genetics advance online publication, 23 September 2015; doi:10.1038/ejhg.2015.192. © 2015 Macmillan Publishers Limited Source


Young J.,University Paris - Sud | Young J.,Hopitaux universitaires Paris Sud | Young J.,Institute National Of La Sante
Journal of Clinical Endocrinology and Metabolism | Year: 2012

The term "congenital hypogonadotropic hypogonadism" (CHH) refers to a group of disorders featuring complete or partial pubertal failure due to insufficient secretion of the pituitary gonadotropins LH and FSH. Many boys (or their parents) will seek medical consultation because of partial or absent virilization after 14 yr of age. Small testes are very frequent, but height is generally normal. Laboratory diagnosis of hypogonadotropic hypogonadismis relatively simple, with very low circulating total testosterone and low to low-normal gonadotropin and inhibin B levels. This hormone profile rules out a primary testicular disorder. Before diagnosing CHH, however, it is necessary to rule out a pituitary tumor or pituitary infiltration by imaging studies, juvenile hemochromatosis, and a systemic disorder that, by undermining nutritional status, could affect gonadotropin secretion and pubertal development. Anterior pituitary function must be thoroughly investigated to rule out a more complex endocrine disorder with multiple hormone deficiencies and thus to conclude that the hypogonadotropic hypogonadism is isolated. The most likely differential diagnosis before age 18 yr is constitutional delay of puberty. A part from non-Kallmann syndromic forms, which are often diagnosed during childhood, the two main forms of CHH seen by endocrinologists are Kallmann syndrome, in which CHH is associated with impaired sense of smell, and isolated CHH with normal olfaction. Anosmia can be easily diagnosed by questioning the patient, whereas olfactometry is necessary to determine reliably whether olfaction is normal or partially defective. This step is important be fore embarking on a search for genetic mutations, which will also be useful for genetic counseling. The choice of a particular hormone replacement therapy protocolaimed at virilizing the patient will depend on age at diagnosis and local practices. Copyright © 2012 by The Endocrine Society. Source


Benyamina A.,Hopitaux universitaires Paris Sud | Stover H.,Frankfurt University of Applied Sciences
Heroin Addiction and Related Clinical Problems | Year: 2012

According to the European Quality Audit of Opioid Treatment (EQUATOR) analysis, there is large variation across Europe in the conditions attached to treatment of opioid dependence. Treatment conditions, such as supervised dosing and the need to attend regular appointments, may constitute important barriers to treatment that may impact on successful outcomes for opioid-dependent individuals. Greater flexibility in the provision of treatment and improved education for patients, users and physicians with regards to therapy options may help to improve recruitment and retention of opioid users in treatment, and consequently improve patient outcomes. Source


Hamzaoui O.,Hopitaux universitaires Paris Sud | Monnet X.,Center Hospitalier University Of Bicetre | Monnet X.,University Paris - Sud | Teboul J.-L.,Center Hospitalier University Of Bicetre | Teboul J.-L.,University Paris - Sud
European Respiratory Journal | Year: 2013

Systolic blood pressure normally falls during quiet inspiration in normal individuals. Pulsus paradoxus is defined as a fall of systolic blood pressure of >10 mmHg during the inspiratory phase. Pulsus paradoxus can be observed in cardiac tamponade and in conditions where intrathoracic pressure swings are exaggerated or the right ventricle is distended, such as severe acute asthma or exacerbations of chronic obstructive pulmonary disease. Both the inspiratory decrease in left ventricular stroke volume and the passive transmission to the arterial tree of the inspiratory decrease in intrathoracic pressure contribute to the occurrence of pulsus paradoxus. During cardiac tamponade and acute asthma, biventricular interdependence (series and parallel) plays an important role in the inspiratory decrease in left ventricular stroke volume. Early recognition of pulsus paradoxus in the emergency room can help to diagnose rapidly cardiac tamponade. Measurement of pulsus paradoxus is also useful to assess the severity of acute asthma as well as its response to therapy. Recent development of noninvasive devices capable of automatic calculation and display of arterial pressure variation or derived indices should help improve the assessment of pulsus paradoxus at the bedside. Copyright © ERS 2013. Source

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