Publications by authors named "Ferre E"

The dimensions of objects and our body parts influence our perception of the weight of objects in our surroundings. It has been recently described a dramatic underestimation of the perceived weight of the hand. However, little is known on how perceived size informs the perceived weight of our own body parts.

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Research on media's effects on body perception has mainly focused on the role of vision of extreme body types. However, haptics is a major part of the way children experience bodies. Playing with unrealistically thin dolls has been linked to the emergence of body image concerns, but the perceptual mechanisms remain unknown.

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  • APECED is a serious genetic autoimmune disorder linked to variants in the autoimmune regulator (AIRE) gene, with 16% of evaluated patients lacking known harmful variants, most of whom are of Puerto Rican descent.
  • Researchers discovered a deep intronic variant (c.1504-818 G>A) in these patients that causes a cryptic splice site leading to a dysfunctional protein through pseudoexon inclusion.
  • They developed an antisense oligonucleotide (ASO) that corrected this genetic issue, demonstrating the potential for targeted treatments in APECED patients.
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Emicizumab is a bispecific antibody that mimics the function of factor VIII (FVIII) and is indicated for prophylactic use in patients with congenital hemophilia A with or without inhibitors. Acquired hemophilia A (AHA) is a rare and severe disorder causes by autoantibodies that inhibit FVIII. In AHA, acute bleeding are managed with bypassing agents but several reports described the off-label use of emicizumab.

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  • Cutaneous protothecosis is an uncommon infection that affects the skin and can spread systemically, requiring long-term treatment with medications that may have harmful side effects.
  • The case study focuses on a patient whose skin infection did not respond to standard triazole treatment.
  • The patient showed significant improvement after being treated with a new oral formulation of amphotericin B, which was effective without causing any toxicity.
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Background: Thymoma presents with several autoimmune manifestations and is associated with secondary autoimmune regulator (AIRE) deficiency. Pneumonitis has recently been described as an autoimmune manifestation associated with thymoma presenting with similar clinical, radiographic, histological, and autoantibody features as seen in patients with inherited AIRE deficiency who suffer from Autoimmune PolyEndocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome.

Objectives: To treat two patients with biopsy-proven thymoma-associated pneumonitis with lymphocyte-directed immunomodulation.

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  • Autoimmune polyendocrine syndrome type 1 (APS-1) is a severe genetic disorder resulting from AIRE deficiency, leading to self-reactive T cells causing autoimmune damage in various organs.
  • The study investigated the role of interferon-γ in APS-1 by analyzing patient samples and conducting experiments with mice, finding that high levels of interferon-γ correlate with disease activity.
  • Treatment with the JAK inhibitor ruxolitinib significantly reduced interferon-γ levels and improved symptoms in APS-1 patients, suggesting that targeting this pathway may be a viable therapeutic approach.
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  • The study focuses on improving organ donation and transplant efficiency in British Columbia, Canada, through enhanced cooperation between organ procurement organizations and transplant programs.
  • It analyzed metrics from nearly 2,000 referred deceased organ donors over four years to determine the effectiveness of various implemented policies and practices.
  • Key findings include high consent rates (78%) and utilization rates (99%) of kidneys from eligible donors, with strategies like dedicated coordinators and improved communication significantly contributing to the system's success.
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  • - APECED is a rare autoimmune disease often caused by mutations in the autoimmune regulator gene, leading to multiple symptoms.
  • - The disease traditionally includes chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency, but additional symptoms like APECED rash and intestinal dysfunction suggest a broader clinical spectrum.
  • - This report details a case of a 10-month-old girl who exhibited APECED rash and recurrent candidiasis as the initial signs of the disease, highlighting the importance of recognizing early symptoms for timely diagnosis.
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While navigating through the surroundings, we constantly rely on inertial vestibular signals for self-motion along with visual and acoustic spatial references from the environment. However, the interaction between inertial cues and environmental spatial references is not yet fully understood. Here we investigated whether vestibular self-motion sensitivity is influenced by sensory spatial references.

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Determining the spatial relation between objects and our location in the surroundings is essential for survival. Vestibular inputs provide key information about the position and movement of our head in the three-dimensional space, contributing to spatial navigation. Yet, their role in encoding spatial localisation of environmental targets remains to be fully understood.

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  • An opportunistic mold can lead to lung infections in people with weakened immune systems, often treated with triazole drugs.
  • Lupus nephritis, a serious kidney problem in lupus patients, requires treatments that can interact negatively with triazoles, leading to increased toxicity.
  • The case study highlights a patient with both pneumonia and lupus nephritis who was effectively treated using posaconazole and echinocandin interruptions, allowing safe cyclophosphamide therapy that improved both lung and kidney health.
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When reproducing the remembered location of dots within a circle, judgments are biased toward the center of imaginary quadrants formed by imaginary vertical and horizontal axes. This effect may result from the heightened precision in the visual system for these orientations in a reference frame, or alternately on the internal representation of gravity. We dissociated reference frames defined by the retina and by gravity by having participants locate dots from memory in a circle when their head was upright (aligned with gravity) versus tilted 30° to the left (misaligned with gravity).

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited disorder of immunity which leads to increased risk for mucocutaneous candidiasis and multiorgan autoimmune disease. While alopecia areata (AA) has been described in some patients with APECED, the extent and timing of AA is not well established and extent and timing of concomitant vitiligo and hypothyroidism has not been described. We evaluated an APECED cohort followed at the National Institutes of Health for the timing of development of associated diseases.

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According to Newton's laws, the weight of a body part is equal to its mass times gravitational acceleration. Our experience of body part weight, however, is constructed by the central nervous system. No sensory receptors directly specify the weight of body parts, and the factors influencing perceived weight remain unknown.

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Introduction: Space Motion Sickness (SMS) is a syndrome that affects around 70% of astronauts and includes symptoms of nausea, dizziness, fatigue, vertigo, headaches, vomiting, and cold sweating. Consequences range from discomfort to severe sensorimotor and cognitive incapacitation, which might cause potential problems for mission-critical tasks and astronauts and cosmonauts' well-being. Both pharmacological and non-pharmacological countermeasures have been proposed to mitigate SMS.

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Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator () gene. More recently, dominant-negative mutations within the PHD1, PHD2, and SAND domains have been associated with an incompletely penetrant milder phenotype with later onset familial clustering, often masquerading as organ-specific autoimmunity. Patients with immunodeficiencies or autoimmunity where genetic analyses revealed heterozygous mutations were included in the study and the dominant-negative effects of the mutations were functionally assessed .

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Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in and heterozygous pathogenic variants in , respectively. The clinical diagnosis of APECED and POIKTMP rely on the development of two or more characteristic disease manifestations that define the corresponding syndromes. We discuss the shared and distinct clinical, radiographic, and histological features between APECED and POIKTMP presented in our patient case and describe his treatment response to azathioprine for POIKTMP-associated hepatitis, myositis, and pneumonitis.

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Autoimmune diseases vary in the magnitude and diversity of autoantibody profiles, and these differences may be a consequence of different types of breaks in tolerance. Here, we compared the disparate autoimmune diseases autoimmune polyendocrinopathy-candidiasis-ecto-dermal dystrophy (APECED), systemic lupus erythematosus (SLE), and Sjogren's syndrome (SjS) to gain insight into the etiology of breaks in tolerance triggering autoimmunity. APECED was chosen as a prototypical monogenic disease with organ-specific pathology while SjS and SLE represent polygenic autoimmunity with focal or systemic disease.

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At the beginning of life, inexperienced animals use evolutionary-given preferences (predispositions) to decide what stimuli to attend and approach. Stimuli that contain cues of animacy, such as face-like stimuli, biological motion and changes in speed, are particularly attractive across vertebrate taxa. A strong cue of animacy is upward movement against terrestrial gravity, because only animate objects consistently move upward.

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Background: The vestibular system provides a comprehensive estimate of self-motion in 3D space. Widely used to artificially stimulate the vestibular system, binaural-bipolar square-wave Galvanic Vestibular Stimulation (GVS) elicits a virtual sensation of roll rotation. Postural responses to GVS have been clearly delineated, however quantifying the perceived virtual rotation vector has not been fully realised.

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  • Subcutaneous phaeohyphomycosis usually affects healthy individuals after trauma but can become severe in people with CARD9 deficiencies or those who have had transplants due to unclear protective mechanisms.
  • A patient with a severe case of this infection harbored harmful mutations in the CLEC7A gene, leading to impaired immune responses against the fungus Corynespora cassiicola.
  • Research using a mouse model revealed that both Dectin-1 and CARD9 are crucial for producing key immune signals (TNF-α and IL-1β) that help kill this fungus, and a study of additional patients showed that many had similar mutations affecting immune function.
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The integration of visuo-vestibular information is crucial when interacting with the external environment. Under normal circumstances, vision and vestibular signals provide corroborating information, for example regarding the direction and speed of self-motion. However, conflicts in visuo-vestibular signalling, such as optic flow presented to a stationary observer, can change subsequent processing in either modality.

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