Publications by authors named "C BLANCHET"

Introduction: Avoidant Restrictive Food Intake Disorder (ARFID) is a recently described disorder. Data on inpatient treatment is still scarce, ARFID mainly being an outpatient condition. The purpose of this study is to describe a rare population of adolescents with severe ARFID receiving full-time multimodal inpatient care by examining their clinical characteristics, management, and evolution.

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Background: Anorexia nervosa (AN) is a serious multifactorial eating disorder characterized by insufficient nutritional intake to maintain a minimum normal weight for one's age and height, a fear of gaining weight and a distorted body image. It affects mainly adolescents, but a decreased age at diagnosis has been reported, leading to the definition of a rare form of AN called early-onset or prepubertal anorexia nervosa (EOAN; ORPHA 525738), with reported epidemiological and clinical specificity. Current knowledge and specific treatments for this particular condition remain scarce.

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The field of bone regeneration has primarily focused on investigating fracture healing and nonunion in isolated musculoskeletal injuries. Compared to isolated fractures, which frequently heal well, fractures in patients with multiple bodily injuries (polytrauma) may exhibit impaired healing. While some papers have reported the overall cytokine response to polytrauma conditions, significant gaps in our understanding remain in how fractures heal differently in polytrauma patients.

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Massive sampling in AlphaFold enables access to increased structural diversity. In combination with its efficient confidence ranking, this unlocks elevated modeling capabilities for monomeric structures and foremost for protein assemblies. However, the approach struggles with GPU cost and data storage.

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Introduction: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4]. More recently, UCHL1 loss of function (LoF) variants have been associated to an autosomal dominant disease characterized by late-onset spastic ataxia, neuropathy, and frequent optic atrophy [5].

Methods: Routine clinical care whole-genome (WGS) and exome (ES) sequencing.

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