Léonard Féasson

Léonard Féasson
  • Professor (Full), MD, PhD, HDR
  • Head of Department at Centre Hospitalier Universitaire de Saint-Étienne

About

213
Publications
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Introduction
My approach is: i) to identify biological markers and mechanisms responsible for muscular deconditioning (age-related sarcopenia, primary or secondary pathological remodeling) and their pathophysiological involvement; ii) develop strategies to prevent or treat deconditioning of the muscle, in particular by adapted physical activity; iii) based on histological, biochemical and molecular tissue techniques and integrative functional physiological analyzes applied to healthy and pathological humans.
Current institution
Centre Hospitalier Universitaire de Saint-Étienne
Current position
  • Head of Department
Additional affiliations
September 2015 - October 2020
Centre Hospitalier Universitaire de Saint-Étienne
Position
  • Head of Department
September 2015 - present
University of Lyon - University Jean Monnet Saint-Etienne, France
Position
  • Professor
September 1996 - August 2015
Jean Monnet University
Position
  • Professor (Assistant)

Publications

Publications (213)
Article
Full-text available
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patients display asymmetric weakness of facial, scapular, and humeral muscles that may progress to other muscle groups, particularly the abdominal...
Article
Full-text available
Footwear has the potential to reduce soft‐tissue vibrations (STV) but responses are highly subject‐specific. Recent evidence shows that compressive garments minimizing STV have a beneficial effect on neuromuscular (NM) fatigue. The aim was to determine whether an individualized midsole hardness can minimize STV and NM fatigue during a half marathon...
Preprint
Full-text available
Purpose: Among the 32 items of the Motor Function Measure scale, 3 concern the assessment of hand function on a paper-based support. Their characteristics make it possible to envisage the use of a tablet instead of the original paper-based support for their completion. This would then make it possible to automate the score to reduce intra- and inte...
Article
Purpose Approximately 30% of people infected with COVID-19 require hospitalization and 20% of them are admitted to an intensive care unit (ICU). Most of these patients experience symptoms of fatigue weeks post-ICU, so understanding the factors associated with fatigue in this population is crucial. Methods Fifty-nine patients [38-78 yr] hospitalize...
Article
Full-text available
Patients with sickle cell disease (SCD) display lower slope coefficients of the oxygen uptake (V_O2) vs. work rate (W) relationship (delineating an O2 uptake/demand mismatch) and a poor metabolic flexibility. Because endurance training (ET) increases the microvascular network and oxidative enzymes activity including one involved in lipid oxidation,...
Article
Full-text available
Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved children. Since 2020, the oral, selective SMN2-splicing modifier risdiplam has been available with restrictions ev...
Article
Introduction: Previous studies ranging from 2 to 12 weeks of sprint interval training (SIT) have reported improvements in maximal oxygen uptake (V̇ O2max) and neuromuscular function in sedentary populations. However, whether the time course of the changes in these variables correlate with greater training volumes, is unclear. Methods: 13 sedentar...
Article
Full-text available
Exercise in long COVID is poorly studied. Nevertheless, exerciserehabilitation could improve cardiorespiratory, muscular and autonomic functions. We aimed to investigate improvement in physical and autonomic performances of long COVID patients (n = 38) after a 4-week exercise rehabilitation program (3 sessions/week) compared to two control groups c...
Article
Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelin...
Article
Introduction: Fatigue is the most common and disabling symptom in multiple sclerosis (MS), being reported by 55% to 78% of patients with multiple sclerosis (PwMS). Etiology of MS-related fatigue remains poorly understood but an increased neuromuscular fatigability (i.e., greater loss of torque during exercise) could contribute to this phenomenon....
Article
Full-text available
Background Recovery is a key factor to promote adaptations and enhance performance. Sprint Interval Training (SIT) is known to be an effective approach to improve overall physical function and health. Although a 2-day rest period is given between SIT sessions, the time-course of recovery after SIT is unknown. Purpose The aim of this study was to d...
Article
Chronic fatigue is a frequent complaint, expressed at all levels of the healthcare system. It is perceived as disabling in a high proportion of cases, and internists are frequently called upon to find "the" cause. The etiological diagnostic approach of an unexplained state of fatigue relies on the careful search for more specific clues by questioni...
Article
Abstract Purpose This study aimed to compare performance and fatigability between young (n = 13; 18-30 yr), old (n = 13; 60-80 yr) and very old (n = 12; >80 yr) men during a single-joint isometric (ISO) and concentric (CON) task performed on an isokinetic dynamometer, and a cycling (BIKE) task. Methods Participants randomly performed incremental...
Article
Full-text available
Fatigue is a major symptom in many diseases, often among the most common and severe ones and may last for an extremely long period. Chronic fatigue impacts quality of life, reduces the capacity to perform activities of daily living, and has socioeconomical consequences such as impairing return to work. Despite the high prevalence and deleterious co...
Article
Objective: This study aimed to report the association of focal myositis (FM) and Behçet's disease (BD), and to analyse the main characteristics of such an association. Methods: Retrospective multicentre study of patients with BD and FM (BD+FM+ group) and those without FM (BD-FM+ group). Clinical, laboratory, radiological, pathological, treatment...
Article
Full-text available
Human aging is associated with a decline in the capacity to memorize recently acquired motor skills. Motor imagery training is a beneficial method to compensate for this deterioration in old adults. It is not yet known whether these beneficial effects are maintained in very old adults (>80 years), who are more affected by the degeneration processes...
Article
Purpose: Previous research has shown that maximal oxygen uptake (VO2max) significantly influences performance in trail-running races up to 120 km but not beyond. Similarly, the influence of running economy on performance in ultratrail remains unclear. The aim of our study was, therefore, to determine the physiological predictors of performance in...
Preprint
BACKGROUND Physical inactivity is a major risk factor for noncommunicable diseases and the fourth leading cause of premature death worldwide. Nowadays, the World Health Organization (WHO) recommends performing at least 30 minutes of physical activity (PA) five times a week. However, these recommendations are independent on a person's age, gender or...
Article
Full-text available
Background Physical inactivity is a major risk factor for noncommunicable diseases and a leading cause of premature death. The World Health Organization (WHO) recommends at least 150 minutes of moderate intensity physical activity (PA) weekly, regardless of age, gender, or personal habits. However, in both sports performance and clinical settings,...
Article
Full-text available
Purpose: In severe chronic obstructive pulmonary disease (COPD) patients, the application of an inspiratory pressure support (IPS) during exercise increases exercise tolerance and the benefit of exercise training during pulmonary rehabilitation (PR). Moreover, it improves quadriceps endurance after a session of cycling exercise suggesting a reduced...
Preprint
Full-text available
Human aging is associated with a decline in the capacity to memorize recently acquired motor skills. Motor imagery training is a beneficial method to compensate for this deterioration in old adults. It is not yet known whether these beneficial effects are maintained in very old adults (>80 years), more affected by the degeneration processes. The ai...
Article
In the present study, we aimed to provide a robust comparison of the fatigability of the knee extensors following isometric (ISO) and concentric (CON) tasks. Twenty young adults (25 ± 4 yr, 10 women) randomly performed the ISO and CON quadriceps intermittent fatigue test, consisting of ten (5 s on/5-s off, ISO) or one-hundred (0.5-s on/0.5-s off, C...
Article
Objectives: The aim of the present study was to investigate the level of cardiorespiratory fitness and neuromuscular function of ICU survivors after COVID-19 and to examine whether these outcomes are related to ICU stay/mechanical ventilation duration. Design: Prospective nonrandomized study. Setting: Patients hospitalized in ICU for COVID-19...
Article
Full-text available
Purpose The present study aimed to directly compare the effects of 30 min muscle (VIBmuscle) vs. tendon (VIBtendon) local vibration (LV) to the quadriceps on maximal voluntary isometric contraction (MVIC) and rate of torque development (RTD) as well as on central nervous system excitability (i.e. motoneuron and cortical excitability). Methods Befo...
Article
Full-text available
While few studies pointed out low bone mineral densities in constitutionally thin women, little is known about potential explanations. The objective was to further explore bone architecture in both women and men with constitutional thinness to investigate their mechanical muscle-bone coupling (or uncoupling). Thirty constitutionally thin people and...
Article
Full-text available
The purpose of the study was to assess sex‐related differences in resting mechanical properties and adaptations of skeletal muscles and tendons in response to trail running races of different distances using multi‐site shear wave elastography assessments of the lower limb, force capacity and blood analyses. Sex differences in resting mechanical pro...
Article
Full-text available
ContextAfter a COVID-19 infection, some patients have persistent symptoms, the most common is fatigue. To prevent it from becoming chronic (post-COVID-19 syndrome), early management before 3 months could be useful. Exercise and education are recommended.Objective To assess fatigue in patients with prolonged symptoms after COVID-19 infection and who...
Article
We previously demonstrated that 8 weeks of moderate-intensity endurance training is safe and improves muscle function and characteristics of sickle cell disease (SCD) patients. Here, we investigated skeletal muscle satellite cells (SCs) in SCD patients and their responses to a training program. Fifteen patients followed the training program while 1...
Article
Full-text available
Middle-aged and master endurance athletes exhibit similar physical performance and long-term muscle adaptation to aerobic exercise. Nevertheless, we hypothesized that the short-term plasticity of the skeletal muscle might be distinctly altered for master athletes when they are challenged by a single bout of prolonged moderate-intensity exercise. Si...
Article
Actualités en Médecine Physique et de Réadaptation. La pratique régulière d’une activité physique adaptée (APA) est désormais considérée comme sans danger et bénéfique au niveau fonctionnel, tissulaire et psychologique pour les patients atteints de maladie neuromusculaire. ▸ Bien que les posologies optimales à prescrire en fonction des étiologies...
Article
Full-text available
Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials a...
Article
Purpose: While the physiological determinants of road running have been widely studied, there is a lack of research in trail-running racing performance. The aim of our study was to determine the physiological predictors of trail-running performance in races of different distances in similar terrain and weather conditions. Methods: Seventy-five t...
Article
Résumé Introduction Les complications neurologiques et musculaires de l’hépatite E sont rares et parfois méconnues. Observation Un homme de 56 ans était hospitalisé pour une tétraparésie flasque révélatrice d’une rhabdomyolyse aiguë dans un contexte d’hépatite virale E aiguë. Le diagnostic d’hépatite E était confirmé par la sérologie et la charge...
Article
The present study aimed to investigate age-related differences in fatigability induced by an isometric quadriceps intermittent fatiguing test in 30 young (<35 years old, 15 females), 19 old (>60 years old, 9 females) and 30 very old (>80 years old, 15 females) adults. Maximal force loss, contractile function and voluntary activation of the knee ext...
Article
Full-text available
It remains unclear whether sickle cell trait (SCT) should be considered a risk factor during intense physical activity. By triggering the polymerization-sickling-vaso-occlusion cascade, lactate accumulation-associated acidosis in response to high-intensity exercise is believed to be one of the causes of complications. However, our understanding of...
Article
Full-text available
A growing interest in constitutional thinness has been observed in the last decades, but the publications however cover various fields of study and report equivocal results. The present work systematically reviewed any clinical trials enrolling participants with constitutional thinness and bibliographic researches were performed between December 20...
Article
Full-text available
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle wasting following repeated muscle damage and inadequate regeneration. Impaired myogenesis and differentiation play a major role in DMD as well as intracellular calcium (Ca2+) mishandling. Ca2+ release from the sarcoplasmic reticulum is mostly mediated by the type 1 ryanodine r...
Article
Background: After anterior cruciate ligament reconstruction (ACLR), quadriceps strength must be maximized as early as possible. Objectives: We tested whether local vibration training (LVT) during the early post-ACLR period (i.e., ∼10 weeks) could improve strength recovery. Methods: This was a multicentric, open, parallel-group, randomized control...
Preprint
Full-text available
The aim of the present study was to investigate age-related differences in fatigability induced by an isometric quadriceps intermittent fatiguing test in young (<35 years old), old (>60 years old) and very old (>80 years old) men and women. Maximal force loss, contractile function and voluntary activation of the knee extensors were evaluated throug...
Article
The present study aimed to evaluate the association between physical activity, knee extensors (KE) performance (i.e. isometric strength and fatigability) and biological parameters (i.e. muscle structural, microvascular and metabolic properties) in healthy very old men and women. Thirty very old adults (82±1 yr, 15 women) performed an isometric quad...
Article
Full-text available
Introduction: The COVID-19 pandemic implied a period of lockdown for the general population, increasing the risk to develop some physical or mental disorders. In fibromyalgia patients, these disorders are part of the large clinical picture of the syndrome. Fibromyalgia management is especially based on a regular practice of physical activity. Lockd...
Article
Full-text available
The etiology of changes in lower‐limb neuromuscular function, especially to the central nervous system, may be affected by exercise duration. Direct evidence is lacking as few studies have directly compared different race distances. This study aimed to investigate the etiology of deficits in neuromuscular function following short versus long trail‐...
Article
Full-text available
Purpose The effect of trail running competitions on cost of running (Cr) remains unclear and no study has directly examined the effect of distances in similar conditions on Cr. Accordingly, the aims of this study were to (i) assess the effect of trail running races of 40–170 km on Cr and (ii) to assess whether the incline at which Cr is measured in...
Article
Full-text available
Introduction: Fibromyalgia (FM) is characterized by multiple symptoms including pain, fatigue, and sleep disorders, altering patient's quality of life. In the absence of effective pharmacological therapy, the last European guidelines recommend a multidisciplinary management based on exercise and education. Thus, our main objective was to measure th...
Article
Full-text available
(1) Background: Aging is associated with a progressive decline in muscle mass and function. Aging is also a primary risk factor for metabolic syndrome, which further alters muscle metabolism. However, the molecular mechanisms involved remain to be clarified. Herein we performed omic profiling to decipher in muscle which dominating processes are ass...
Article
Background To describe the clinical, pathological, and molecular characteristics of late onset (LO) dysferlinopathy patients. Methods Retrospective series of patients with LO dysferlinopathy, defined by an age at onset of symptoms ≥30 years, from neuromuscular centers in France and the International Clinical Outcome Study for dysferlinopathy (COS)...
Article
BACKGROUND: Endurance running events are known to cause inflammation and result in increased cytokine production. However, the effects of ultramarathons on cytokine profiles are not well characterized. OBJECTIVE: The aim of this study was to describe and compare the effects of a trail (40 km) race and an ultra-trail (171 km) race on leukocyte conc...
Article
During pregnancy, women undergo physical and physiological changes, which can impact the neuromuscular disease course, but also delivery and fetus health. Generally, there is little impact on the disease course, but sometimes an impairment is noticed, which could be attributed to pregnancy and not to disease progression. Cardiac and respiratory fun...
Article
The immediate post-exercise/physical activity period is critical for sickle cell trait (SCT) carriers and disease (SCD) patients. Indeed, exercise-related blood acidosis known to trigger the cascade: HbS deoxygenation and polymerization, and subsequently red blood cells sickling, aggravates during the initial post-exercise period. This deterioratio...
Article
Résumé Introduction L’objectif principal de notre étude a été de comparer les caractéristiques des finishers par rapport aux abandonneurs dans une population de coureurs d’Ultra-Trail proche des barrières horaires. Méthodes Il s’agissait d’une étude observationnelle, descriptive et comparative portant sur deux courses d’Ultra-Trail françaises mon...
Article
The quadriceps-intermittent-fatigue (QIF) test assesses knee extensors strength, endurance and performance fatigability in isometric condition. We aimed to assess reliability and agreement for this test in dynamic conditions and with the use of transcranial magnetic stimulation. On two separate sessions, 20 young adults (25±4 yr, 10 women) performe...
Article
Full-text available
Blood rheology is a key determinant of tissue perfusion at rest and during exercise. The present study investigated the effects of race distance on hematological, blood rheological and red blood cell (RBC) senescence parameters. Eleven runners participated in a 40 km race (MCC, elevation gain: 2,300 m) and 12 others in the Ultra-Trail du Mont Blanc...
Poster
Full-text available
Introduction: Locomotor function relies on lower limbs neuromuscular function, particularly three main components: strength, endurance, and fatigability [1]. The quadriceps intermittent fatigue (QIF) test has been previously developed to evaluate these components through progressive incremental loading with assessment of neuromuscular (central and...
Article
Full-text available
Sickle cell disease (SCD) patients display skeletal muscle hypotrophy, altered oxidative capacity, exercise intolerance and poor quality of life. We previously demonstrated that moderate‐intensity endurance training is beneficial for improving muscle function and quality of life of patients. The present study evaluated the effects of this moderate‐...
Article
This study aimed to test if the non-oxidative energy supply (estimated by the accumulated oxygen deficit) is associated with an index of muscle lactate accumulation during exercise, muscle monocarboxylate transporter content and the lactate removal ability during recovery in well-trained rowers. Seventeen rowers completed a 3-min all-out exercise o...
Article
Capillary network of skeletal muscle has a crucial role in oxygen supply and is strongly associated with the phenotype and metabolic profile of muscle fibers. Abundant literature has explored capillarization of skeletal muscle in different populations and in response to different interventions. Capillary and fiber type identification techniques hav...
Article
Full-text available
Constitutional thinness (CT) is a nonpathological state of underweight. The current study aimed to explore skeletal muscle energy storage in individuals with CT and to further characterize muscle phenotype at baseline and in response to overfeeding. Thirty subjects with CT (15 females, 15 males) and 31 normal-weight control subjects (16 females, 15...
Article
Objective Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme®), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stab...
Article
Full-text available
Sickle cell disease (SCD) is a genetic hemoglobinopathy leading to 2 major clinical manifestations: severe chronic hemolytic anemia and iterative vaso-occlusive crises. SCD is also accompanied by profound muscle microvascular remodeling. The beneficial effects of endurance training on microvasculature are widely known. The aim of this study was to...
Article
Full-text available
Purpose Application of non-invasive ventilation (NIV) during exercise improves exercise tolerance in severe COPD patients; however, the underlying mechanism is only partially unraveled. As part of its known effect to unload the respiratory muscles, we looked for the influence of NIV on post-exercise quadriceps muscle endurance. Patients and method...
Article
Purpose: Although strenuous exercise may expose sickle cell disease (SCD) patients to risks of vaso-occlusive crisis, evidence suggests that regular endurance exercise may be beneficial. This study aimed to test (i) the safety and usefulness of a submaximal incremental exercise in evaluating physical ability of SCD patients and identify a marker f...
Article
Full-text available
Background: Constitutional thinness (CT) is a state of low but stable body weight (BMI ≤18 kg/m2). CT subjects have normal-range hormonal profiles and food intake but exhibit resistance to weight gain despite living in the modern world's obesogenic environment. Objective: The goal of this study is to identify molecular mechanisms underlying this...
Article
Magnesium (Mg2+) is critical for a number of biological processes and 25% body Mg2+ is located in the skeletal muscle. Mg2+ transport and homeostasis systems (MgTHs) regulate intracellular Mg2+ concentration and muscle MgTHs are thus related to whole body Mg2+ homeostasis. Nonetheless, few studies have investigated the regulation of muscle MgTHs un...
Article
Full-text available
Background Previous studies have suggested that exercise training improves cardiac autonomic drive in young and middle-aged adults. In this study, we discuss the benefits for the elderly. Objectives We aimed to establish whether exercise still increases heart rate variability (HRV) beyond the age of 60 years, and to identify which training factors...
Article
Background: Exercise could be a triggering factor for vaso-occlusive crises in patients with sickle-cell disease. We aimed to investigate whether a patient-adapted training programme of moderate endurance exercise could be safe and beneficial for patients with sickle-cell disease. Methods: We did a multicentre, prospective, open-label, randomised c...
Article
Characterizations of the multiple mechanisms determining biological aging are required to better understand the etiology and identify early biomarkers of sarcopenia. Oxylipins refer to a large family of signaling lipids involved in the regulation of various biological processes that become dysregulated during aging. To investigate whether comprehen...
Article
Full-text available
Sickle cell disease (SCD) is the most frequent life-threatening genetic hemoglobinopathy in the world and occurs due to the synthesis of abnormal hemoglobin S (HbS). HbS-containing red blood cells (RBCs) are fragile, leading to hemolysis and anemia, and adhere to the endothelium, leading to hemorheological and hemodynamical disturbances. In its deo...
Conference Paper
Introduction Sickle cell disease (SCD) is a genetic haemoglobinopathy leading in two major clinical manifestations: severe chronic haemolytic anaemia and iterative vaso-occlusive crisis. Recently, we have highlighted that SCD is accompanied by a profound and deleterious remodelling of muscle tissue and in particular at the microvascular level (Rave...
Article
Introduction/Background Aging is associated with a decrease of the activity level of the Autonomic Nervous System (ANS). With aging, the decline in activity coincides with the occurrence of deaths. It is well established that physical activity (PA) is an efficient strategy for successful aging. This work focuses on the regulation of the ANS by PA a...
Article
Introduction/Background The decrease of the autonomic nervous system (ANS) activity that occurs with age is associated with an increase of cardiovascular events and morbidities. It has been shown that physical activity helps reducing the ANS activity age-related decline but remains poorly practiced among nursing home residents. Therefore, we aim to...
Article
Aim Constitutional thinness (CT) is a rare condition of natural low bodyweight, with no psychological issues, no marker of undernutrition and a resistance to weight gain. This study evaluated the skeletal muscle phenotype of CT women by comparison to a normal BMI control group. Methods 10 CT women (BMI< 17.5 kg/m2) and 10 female controls (BMI: 18....
Article
Background 18p deletion syndrome is a rare disorder caused by partial or full monosomy of the short arm of chromosome 18. Clinical symptoms caused by 18p hemizygosity include cognitive impairment, mild facial dysmorphism, strabismus and ptosis. Among other genes, structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) is h...
Article
An Interventional Study: The BRISK WALKING Cohort The BRISK WALKING study (ClinicalTrials.gov identifier: NCT03302923) is a logical continuation of the PROOF study, adding exercise intervention. It aims to assess the effects of a 9-month brisk walking training (once vs thrice a week) on the autonomic nervous system activity of nursing home resident...
Article
B Gellen and L Messonnier, and L Feasson and P Bartolucci equally contributed to this work Introduction Sickle cell disease (SCD) is the most common inherited disease worldwide. Because favoring the risk of vaso-occlusive crises (VOC), SCD patients are banned from strenuous exercise. We hypothesized that a well-controlled moderate-intensity enduran...
Article
Full-text available
Muscular dystrophies are characterized by weakness and wasting of skeletal muscle tissues. Several drugs targeting the myostatin pathway have been used in clinical trials to increase muscle mass and function but most showed limited efficacy. Here we show that the expression of components of the myostatin signaling pathway is downregulated in muscle...
Poster
Full-text available
Introduction : La drépanocytose est une hémoglobinopathie génétique ayant pour conséquences deux manifestations cliniques majeures : une anémie hémolytique chronique sévère et des crises vaso-occlusives itératives. Récemment, nous avons mis en évidence que la drépanocytose s’accompagnait d’un remodelage profond du tissu musculaire, contribuant à l’...
Conference Paper
Introduction : La drépanocytose est une hémoglobinopathie génétique ayant pour conséquences deux manifestations cliniques majeures : une anémie hémolytique chronique sévère et des crises vaso-occlusives itératives. Récemment, nous avons mis en évidence que la drépanocytose s’accompagnait d’un remodelage profond et délétère du tissu musculaire, cont...
Article
Introduction et but de l’étude La maigreur constitutionnelle est un état physiologique de sous-poids (IMC < 18 kg/m²) dans lequel ne sont observés ni les troubles du comportement alimentaire, ni les altérations hormonales secondaires à la dénutrition classiquement relevées dans l’anorexie mentale. L’axe gonadotrope n’est pas affecté et les patiente...
Article
Background: The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease. Methods: We identified patients from the French Pompe Registry with severe respiratory...
Article
Introduction La DMFSH est causee par une depression genetique et epigenetique du locus D4Z4 due a la presence d’une contraction pathologique en 4q, ou a une mutation dans le gene SMCHD1 localise en 18p. Observation Nous avons voulu etudier chez les patients adresses a notre centre pour une DMFSH atypique restee sans diagnostic, si le syndrome 18p-...

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