Publications by authors named "Blouin J"

Using friction modulation to simulate fabrics with a tactile stimulator (i.e. virtual surface) is not sufficient to render fabric touch and even more so for hairy fabrics.

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A vaccine effective against both SARS-CoV-2 and influenza A (IAV) viruses could represent a cost-effective strategy to reduce their combined public health burden as well as potential complications arising from co-infection. Based on previous findings that full-length SARS-CoV-2 spike (S) expression can induce high-level, enveloped VLP (eVLP) production in CHO cells, we tested whether IAV H1N1 hemagglutinin (H1) and neuraminidase (N1) could also be displayed on these particles. We found that co-incorporation of the IAV surface antigens in spike VLPs (S-VLPs) was highly efficient: upon transient co-expression of S + H1 or S + H1 + N1 in CHO cells, the resulting VLPs contained similar amounts of the SARS-CoV-2 S and IAV antigens.

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Resting-state functional connectivity (FC) MRI is sensitive to brain changes in Alzheimer's disease in preclinical stages, however studies in persons with subjective cognitive decline (SCD) have reported conflicting findings, and no study is available at 7T MRI. In this study, we investigated FC alterations in sixty-six participants recruited at the Geneva Memory Center (24 controls, 14 SCD, 28 cognitively impaired [CI]). Participants were classified as SCD if they reported cognitive complaints without objective cognitive deficits, and underwent 7T fMRI to assess FC in canonical brain networks and their association with cognitive/clinical features.

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Background: Falls are the leading cause of injuries in older adults. Environmental objects (such as furniture, walls, and handrails) may act as hazards or facilitators to balance maintenance and safe landing. There is lack of objective evidence on how older adults interact with objects during falls.

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Background: Mutations in the gene cause Maturity Onset Diabetes of the Young (GCK-MODY) by impairing glucose-sensing in pancreatic beta cells. During pregnancy, managing this type of diabetes varies based on fetal genotype. Fetuses carrying a mutation can derive benefit from moderate maternal hyperglycemia, stimulating insulin secretion in fetal islets, whereas this may cause macrosomia in wild-type fetuses.

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Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance, most commonly known to affect the skin and eyes. Although lung involvement in the form of cysts and bullae occurs in up to 20% of adults, the seemingly intuitive association of NF1 and spontaneous pneumothorax is not widely recognised among clinicians. Here, we report the second case of recurring spontaneous pneumothorax in the context of NF1 with a confirmed molecular diagnosis.

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Article Synopsis
  • Acute hepatic porphyrias are genetic disorders that disrupt heme production, leading to harmful substances and severe neurological attacks, with givosiran being a new treatment targeting a key enzyme involved in this process.
  • A case study of a 72-year-old patient showed that givosiran treatment caused high levels of homocysteine, prompting treatment discontinuation and revealing a possible connection to a deficiency in the cystathionine β-synthase enzyme.
  • Ongoing vitamin B supplementation normalized homocysteine levels while maintaining givosiran treatment, highlighting the need to monitor vitamin status and homocysteine metabolism in patients receiving therapy for better management.
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Thanks to its very high genome-editing efficiency, CRISPR-Cas9 technology could be a promising anticancer weapon. Clinical trials using CRISPR-Cas9 nuclease to edit and alter immune cells are ongoing. However, to date, this strategy still has not been applied in clinical practice to directly target cancer cells.

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  • Humans must adapt to sensory delays in their body to perform motor skills like standing upright, which can vary throughout life.
  • A study using a robotic simulator showed that when participants practiced balancing with delays, they initially struggled but improved their balance by stabilizing their movements, even transferring these skills to other directions.
  • After training, when returning to normal standing, participants exhibited slight oscillations in their control but maintained balance, demonstrating that practice with one part of the body (like hands) can enhance stability in other areas (like legs).
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  • - The study investigates how the vestibular system (which helps maintain balance) responds during real-world walking, considering that previous lab research might not fully apply to outdoor settings.
  • - Ten participants walked outdoors at two different speeds while receiving electrical stimulation to their vestibular system and wearing devices that measured movement in their head and limbs.
  • - Results showed that the vestibular responses varied during the walking cycle and decreased with faster speeds, confirming previous lab findings and demonstrating the effectiveness of the portable measurement system used.
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  • Congenital erythropoietic porphyria (CEP) is a rare genetic disorder resulting from a deficiency in an enzyme crucial for heme biosynthesis, leading to varying severity levels from life-threatening symptoms at birth to milder issues later on.
  • A study reviewed 20 severe perinatal cases of CEP in France, analyzing their presentation and progression through data collected from medical records.
  • Key findings revealed diverse outcomes: some cases involved severe antenatal symptoms like hydrops fetalis and resulted in early mortality, while others showed acute neonatal distress from severe anemia and required hematopoietic stem cell transplantation, which had mixed success rates, highlighting the urgency for improved prenatal and postnatal care strategies.
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The active control of the lumbar musculature provides a stable platform critical for postures and goal-directed movements. Voluntary and perturbation-evoked motor commands can recruit individual lumbar muscles in a task-specific manner according to their presumed biomechanics. Here, we investigated the vestibular control of the deep and superficial lumbar musculature.

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzymopathies in humans, present in approximately half a billion people worldwide. More than 230 clinically relevant G6PD mutations of different classes have been reported to date. We hereby describe a patient with chronic hemolysis who presents a substitution of arginine by glycine at position 219 in G6PD protein.

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Despite numerous studies uncovering the neural signature of tactile processing, tactile afferent inputs relating to the contact surface has not been studied so far. Foot tactile receptors being the first stimulated by the relative movement of the foot skin and the underneath moving support play an important role in the sensorimotor transformation giving rise to a postural reaction. A biomimetic surface, i.

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When preparing and executing goal-directed actions, neck proprioceptive information is critical to determining the relative positions of the body and target in space. While the contribution of neck proprioception for upper-limb movements has been previously investigated, we could not find evidence discerning its impact on the planning vs. online control of upper-limb trajectories.

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Background: New-onset diabetes in youth encompasses type 1 diabetes, type 2 diabetes, monogenic diabetes, and rarer subtypes like Type B insulin resistance syndrome and ketosis-prone atypical diabetes in African populations. Some cases defy classification, posing management challenges. Here, we present a case of a unique, reversible diabetes subtype.

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Background: As the COVID-19 pandemic continues to evolve, novel vaccines need to be developed that are readily manufacturable and provide clinical efficacy against emerging SARS-CoV-2 variants. Virus-like particles (VLPs) presenting the spike antigen at their surface offer remarkable benefits over other vaccine antigen formats; however, current SARS-CoV-2 VLP vaccines candidates in clinical development suffer from challenges including low volumetric productivity, poor spike antigen density, expression platform-driven divergent protein glycosylation and complex upstream/downstream processing requirements. Despite their extensive use for therapeutic protein manufacturing and proven ability to produce enveloped VLPs, Chinese Hamster Ovary (CHO) cells are rarely used for the commercial production of VLP-based vaccines.

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Noninvasive prenatal diagnosis relies on the presence in maternal blood of circulating cell-free fetal DNA released by apoptotic trophoblast cells. Widely used for aneuploidy screening, it can also be applied to monogenic diseases (NIPD-M) in case of known parental mutations. Due to the confounding effect of maternal DNA, detection of maternal or biparental mutations requires relative haplotype dosage (RHDO), a method relying on the presence of SNPs that are heterozygous in one parent and homozygous in the other.

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The CRISPR-Cas9 system has revolutionized our ability to precisely modify the genome and has led to gene editing in clinical applications. Comprehensive analysis of gene editing products at the targeted cut-site has revealed a complex spectrum of outcomes. ON-target genotoxicity is underestimated with standard PCR-based methods and necessitates appropriate and more sensitive detection methods.

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Self-generated movement shapes tactile perception, but few studies have investigated the brain mechanisms involved in the processing of the mechanical signals related to the static and transient skin deformations generated by forces and pressures exerted between the foot skin and the standing surface. We recently found that standing on a biomimetic surface (i.e.

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People with fibromyalgia have been shown to experience more somatosensory disturbances than pain-free controls during sensorimotor conflicts (i.e., incongruence between visual and somatosensory feedback).

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A few years after their bilateral vestibular loss, patients usually show a motor repertoire that is almost back to normal. This recovery is thought to involve an upregulation of the visual and proprioceptive information that compensates for the lack of vestibular information. Here, we investigated whether plantar tactile inputs, which provide body information relative to the ground and to the Earth vertical, contribute to this compensation.

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