Publications by authors named "A van den Bruel"

Robots have to adjust their motor behavior to changing environments and variable task requirements to successfully operate in the real world and physically interact with humans. Thus, robotics strives to enable a broad spectrum of adjustable motor behavior, aiming to mimic the human ability to function in unstructured scenarios. In humans, motor behavior arises from the integrative action of the central nervous system and body biomechanics; motion must be understood from a neuromechanics perspective.

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Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.

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Background: Severe respiratory complications following kidney transplantation have been reported, yet remain poorly understood in the pediatric population. This study aimed to document respiratory disease in this population.

Methods: At annual follow-ups, patients completed a respiratory symptoms questionnaire and underwent pulmonary function tests (PFTs).

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Humans can perform movements in various physical environments and positions (corresponding to different experienced gravity), requiring the interaction of the musculoskeletal system, the neural system and the external environment. The neural system is itself comprised of several interactive components, from the brain mainly conducting motor planning, to the spinal cord (SC) implementing its own motor control centres through sensory reflexes. Nevertheless, it remains unclear whether similar movements in various environmental dynamics necessitate adapting modulation at the brain level, correcting modulation at the spinal level, or both.

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Secondary hyperparathyroidism (sHPT) is a significant clinical complication of CKD leading to bone abnormalities and cardiovascular disease. Current treatment based on activating the parathyroid calcium-sensing receptor (CaSR) using calcimimetics such as Cinacalcet, aims to decrease plasma PTH levels and inhibit the progression of parathyroid hyperplasia. In the present study, we found significant diurnal rhythmicity of Casr, encoding the Cinacalcet drug target in hyperplastic parathyroid glands (p = 0.

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