The pleasantness of foods.

Food pleasantness is largely based on the palatability of food and is linked to taste. Along with homeostatic and cognitive control, it forms part of the control of food intake (hedonic control), and does not only correspond to the pleasure that can be described of food intake. There are many factors that cause variations in eating pleasantness between individuals, such as age, sex, culture, co-morbidities, treatments, environmental factors or the specific characteristics of foods.

-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.

Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.

Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.

Walking test outcomes in adults with genetic neuromuscular diseases: a systematic literature review of their measurement properties.

Introduction: Neuromuscular diseases (NMDs) include a large group of heterogeneous diseases. NMDs frequently involve gait disorders, which affect quality of life. Several walking tests and tools have been described in the literature, but there is no consensus regarding the use of walking tests and tools in NMDs or of their measurement properties for walking outcomes.

Changes in Taste Perception in Patients with Minor and Major Cognitive Impairment Linked to Alzheimer's Disease Recorded by Gustatory Evoked Potentials.

Background: The need for early diagnosis biomarkers in Alzheimer's disease (AD) is growing. Only few studies have reported gustatory dysfunctions in AD using subjective taste tests.

Objective: The main purpose of the study was to explore gustatory functions using subjective taste tests and recordings of gustatory evoked potentials (GEPs) for sucrose solution in patients with minor or major cognitive impairment (CI) linked to AD, and to compare them with healthy controls.

Hypothalamic Glucose Hypersensitivity-Induced Insulin Secretion in the Obese Zücker Rat Is Reversed by Central Ghrelin Treatment.

Part of hypothalamic (mediobasal hypothalamus [MBH]) neurons detect changes in blood glucose levels that in turn coordinate the vagal control of insulin secretion. This control cascade requires the production of mitochondrial reactive oxygen species (mROS), which is altered in models of obesity and insulin resistance. Obese, insulin-resistant Zücker rats are characterized by hypothalamic hypersensitivity to glucose.

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the SMN1 gene: deletion, gene conversion or, in rare cases, intragenic variants. The disease severity is mainly influenced by the copy number of SMN2, a nearly identical gene, which produces only low amounts of full-length (FL) mRNA. Here we describe the first example of retrotransposon insertion as a pathogenic SMN1 mutational event.

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.

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 and standards of care.

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Objective: To assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.

Methods: Sixty-seven probands with various progressive neurological disorders (cerebellar ataxias, neuromuscular disorders, spastic paraplegias, movement disorders and individuals with complex phenotypes labelled 'other') were recruited over a 4-year period regardless of their age, gender, familial history and clinical framework. Individuals could have had prior genetic tests as long as it was not cES.

COVID 19-Induced Smell and Taste Impairments: Putative Impact on Physiology.

Smell and taste impairments are recognized as common symptoms in COVID 19 patients even in an asymptomatic phase. Indeed, depending on the country, in up to 85-90% of cases anosmia and dysgeusia are reported. We will review briefly the main mechanisms involved in the physiology of olfaction and taste focusing on receptors and transduction as well as the main neuroanatomical pathways.

Hemodialysis Affects Wanting and Spontaneous Intake of Protein-Rich Foods in Chronic Kidney Disease Patients.

Objectives: Protein-energy wasting is a risk factor for mortality and morbidity in hemodialysis patients (HD patients). Food intake could be modified by HD-related changes in the food reward system (i.e.

Differential Cerebral Gustatory Responses to Sucrose, Aspartame, and Stevia Using Gustatory Evoked Potentials in Humans.

Aspartame and Stevia are widely substituted for sugar. Little is known about cerebral activation in response to low-caloric sweeteners in comparison with high-caloric sugar, whereas these molecules lead to different metabolic effects. We aimed to compare gustatory evoked potentials (GEPs) obtained in response to sucrose solution in young, healthy subjects, with GEPs obtained in response to aspartame and Stevia.

High Prevalence of Social Cognition Disorders and Mild Cognitive Impairment Long Term After Stroke.

Purpose: Social cognition disorders after stroke are poorly described. Yet, rehabilitation difficulties are frequent after stroke. This study aimed to evaluate the frequency of social cognition disorders 3 years after a first-ever stroke and to assess the factors associated with this condition.

Assessment of Somatosensory Reorganization by Functional Magnetic Resonance Imaging After Hand Replantation.

Introduction: Amputation of the hand is a rare and extremely intense trauma. Replanting and allografting after this type of injury require a major reorganization of the brain. Brain plasticity, though better known in the context of disorders of the central nervous system, is just as indispensable when the extremities are damaged.

Proof of concept: Effect of GLP-1 agonist on food hedonic responses and taste sensitivity in poor controlled type 2 diabetic patients.

Aims: GLP-1 analogues decrease food intake and have great promise for the fight against obesity. Little is known about their effects on food hedonic sensations and taste perception in poor controlled patients with type 2 diabetes (T2D).

Materials And Methods: Eighteen T2D patients with BMI ≥25 kg/m and poor controlled glycemia were studied before and after 3 months of treatment with Liraglutide.

Taste Perception and Cerebral Activity in the Human Gustatory Cortex Induced by Glucose, Fructose, and Sucrose Solutions.

Glucose, fructose, and sucrose are important carbohydrates in Western diets with particular sweetness intensity and metabolisms. No study has compared their cerebral detection and their taste perception. Gustatory evoked potentials (GEPs), taste detection thresholds, intensity perception, and pleasantness were compared in response to glucose, fructose, and sucrose solutions at similar sweetness intensities and at identical molar concentrations.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Objective: To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management.

Methods: Among the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Comprehensive cross-sectional analysis of most relevant qualitative and quantitative variables was performed.

Cerebral gustatory activation in response to free fatty acids using gustatory evoked potentials in humans.

There is some evidence of specific oro-detection of FFAs in rodents and humans. The aim of this study was to record gustatory evoked potentials (GEPs) in response to FFA solutions and to compare GEPs in response to linoleic acid solution with GEPs obtained after stimulation with sweet and salty tastants. Eighteen healthy men were randomly stimulated with fatty (linoleic acid), sweet (sucrose), and salty (NaCl) solutions at two concentrations in the first experiment.

A new method to calculate external mechanical work using force-platform data in ecological situations in humans: Application to Parkinson's disease.

Background And Aim: To accurately quantify the cost of physical activity and to evaluate the different components of energy expenditure in humans, it is necessary to evaluate external mechanical work (WEXT). Large platform systems surpass other currently used techniques. Here, we describe a calculation method for force-platforms to calculate long-term WEXT.

Preference for Sucrose Solutions Modulates Taste Cortical Activity in Humans.

High time resolution is required to reliably measure neuronal activity in the gustatory cortex in response to taste stimuli. Hedonic aspects of gustatory processing have never been explored using gustatory evoked potentials (GEPs), a high-time-resolution technique. Our aim was to study cerebral processing of hedonic taste in humans using GEPs in response to sucrose solutions in subjects with different ratings of pleasantness regarding sucrose.

Association between Admission Serum 25-Hydroxyvitamin D Levels and Functional Outcome of Thrombolyzed Stroke Patients.

Background: 25-Hydroxyvitamin D (25(OH)D) deficiency is a frequent condition in patients who suffer a stroke, and several studies suggested that it may be associated with a poorer prognosis. The aim of this study was to investigate specifically the association between 25(OH)D levels and functional outcome at 3 months in ischemic stroke patients treated with intravenous thrombolysis.

Methods: Consecutive ischemic stroke patients who received intravenous thrombolysis were enrolled between 2010 and 2013.