Publications by authors named "Normand E"

Strontium isotope (Sr/Sr) analysis with reference to strontium isotope landscapes (Sr isoscapes) allows reconstructing mobility and migration in archaeology, ecology, and forensics. However, despite the vast potential of research involving Sr/Sr analysis particularly in Africa, Sr isoscapes remain unavailable for the largest parts of the continent. Here, we measure the Sr/Sr ratios in 778 environmental samples from 24 African countries and combine this data with published data to model a bioavailable Sr isoscape for sub-Saharan Africa using random forest regression.

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Runt-related transcription factor 1 translocated to 1 (RUNX1T1; also known as eight-twenty-one [ETO]) encodes a transcription regulator for hematopoietic genes and is well known for its involvement in hematologic malignancies, particularly acute myeloid leukemia (AML). However, its role in congenital disease is less understood. This study provides detailed clinical and molecular information on three cases exhibiting neurodevelopmental and congenital anomalies with germline de novo alterations in RUNX1T1.

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Introduction: The Canadian Medical Protective Association (CMPA)'s Commitment to Change in Test-Results Follow-Up (CTC-TRFU) program aims to provide physicians with resources to enhance their test results follow-up systems for improved patient safety. Framed around the Transtheoretical Model, the program involves a 6-month multimodal educational intervention involving individual and group coaching sessions, action planning, and reflection surveys.

Methods: This study evaluates the CTC-TRFU program's impact by analyzing survey responses and course documents, focusing on three main outcomes: physicians' perceived barriers and challenges, changes in their confidence and commitment, and implemented practice changes with perceived impact on patient safety.

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  • Scientists study how animals change to survive in different places, which is really important for understanding biology.
  • They looked at chimpanzees, our closest relatives, who live in many types of environments like rainforests and savannahs.
  • By examining genetic information from wild chimpanzees, they discovered that some chimps have adapted to fight off malaria in similar ways to humans, showing how important genetic diversity is for endangered animals.
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Studies have revealed anthropometric discrepancies in girls with adolescent idiopathic scoliosis (AIS) compared to non-scoliotic subjects, such as a higher stature, lower weight, and lower body mass index. While the causes are still unknown, it was proposed that metabolic hormones could play a role in AIS pathophysiology. Our objectives were to evaluate the association of A316T polymorphism in AIS susceptibility and to study its relationship with disease severity and progression.

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General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to recruit another transcription factor, TFIIIB, and RNA polymerase III (Pol III) to mediate the transcription of small noncoding RNAs, such as tRNAs. Here, we report four individuals from three families presenting with a multisystem developmental disorder phenotype with biallelic variants in GTF3C5.

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Manipulating virtual objects with bare hands is a key interaction in Augmented Reality (AR) applications. However, there are still several limitations that affect the manipulation, including the lack of mutual visual occlusion between virtual and real content as well as the lack of haptic sensations. To address the two abovementioned matters, the role of the visuo-haptic rendering of the hand as sensory feedback is investigated.

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  • The protein ACBD6 is important for lipid and protein acylation, but its exact role and effects of its defects on human health remain unclear.
  • Researchers found 45 individuals from 28 families with harmful mutations in ACBD6, leading to a variety of severe developmental and movement disorders.
  • Model organisms like zebrafish and Xenopus were used in studies to better understand ACBD6's function in protein modification and its localization in peroxisomes, which could help explain the associated disease symptoms.
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Adolescent idiopathic scoliosis (AIS) is a three-dimensional malformation of the spine of unknown cause that develops between 10 and 18 years old and affects 2-3% of adolescents, mostly girls. It has been reported that girls with AIS have a taller stature, lower body mass index (BMI), and bone mineral density (BMD) than their peers, but the causes remain unexplained. Energy metabolism discrepancies, including alterations in adipokine and incretin circulatory levels, could influence these parameters and contribute to disease pathophysiology.

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  • This study provides the first comprehensive catalog of chimpanzee genetic diversity using non-invasive samples collected from 48 sites in Africa, focusing on chromosome 21.
  • The research reveals clear genetic differences among the four recognized chimpanzee subspecies and indicates unexpected local genetic exchanges, while also mapping patterns of population isolation, migration, and connectivity.
  • Unlike humans, chimpanzees lack a history of long-distance migrations, which may affect their cultural transmission, and the study introduces a precise geolocation method for identifying the origins of confiscated chimpanzees.
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The use of camera traps (CTs) has become an increasingly popular method of studying wildlife, as CTs are able to detect rare, nocturnal, and elusive species in remote and difficult-to-access areas. It thus makes them suited to estimate animal density and abundance, identify activity patterns and new behaviours of animals. However, animals can react when they see the CTs and this can lead to bias in the animal population estimates.

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  • Intellectual disability (ID) is often linked to genetic defects, with this study identifying 14 SEMA6B gene variants in patients diagnosed with ID but without epilepsy.
  • The researchers conducted experiments showing that these SEMA6B variants affect protein localization and lead to reduced spine density in both cell cultures and chicken embryos, indicating a significant role in neuron development.
  • The findings broaden the understanding of SEMA6B-related conditions, suggesting it is also a contributor to ID, expanding its clinical significance beyond previously known associations with epilepsy.
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The desire to understand how the brain generates and patterns behavior has driven rapid methodological innovation in tools to quantify natural animal behavior. While advances in deep learning and computer vision have enabled markerless pose estimation in individual animals, extending these to multiple animals presents unique challenges for studies of social behaviors or animals in their natural environments. Here we present Social LEAP Estimates Animal Poses (SLEAP), a machine learning system for multi-animal pose tracking.

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Obesity is an expanding disease responsible for significant deterioration in the Health-Related Quality of Life (HRQL) of those who suffer from it. Bariatric Endoscopy (BE) therapies have proven to be an effective treatment for this pathology. A multidisciplinary approach is essential for the successful therapeutic management of BE.

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Background: Variants in have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defined.

Methods: Molecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals with a related neurodevelopmental disorder.

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  • SPTBN1 gene encodes βII-spectrin, crucial for forming networks at plasma membranes, and its deficiency in mice leads to significant neurodevelopmental issues.
  • Heterozygous variants of SPTBN1 were identified in 29 individuals exhibiting a range of developmental challenges, including intellectual disabilities, language delays, and autistic features.
  • These variants weaken βII-spectrin stability and disrupt cellular organization, establishing SPTBN1 as a key contributor to certain neurodevelopmental syndromes.
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  • - The study evaluated the POSE-2 procedure for weight loss in 75 patients, focusing on its effectiveness and safety after one year.
  • - Results showed that patients lost an average of 20 kg (17.8% of total body weight) with a high technical success rate of 98.7%, and only a few reported adverse events.
  • - Overall, the POSE-2 procedure was found to be safe, led to substantial weight loss, and allowed for a quick recovery, requiring only a one-day hospital stay.
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Though human activities are postulated to be the main drivers of the worldwide biodiversity crisis, humans are also suggested by some to be an important part of the solution to the crisis. How can such a paradox be best solved? This paradox requires an adaptive, context-specific, dynamic solution, at a fine-grained scale that varies by location. The Wild Chimpanzee Foundation (WCF) works on the ground in three West African countries: In Côte d'Ivoire, where bushmeat consumption is a recurrent and generalized threat to wildlife, WCF used live theater performances in the villages to address this issue.

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Large brains and behavioural innovation are positively correlated, species-specific traits, associated with the behavioural flexibility animals need for adapting to seasonal and unpredictable habitats. Similar ecological challenges would have been important drivers throughout human evolution. However, studies examining the influence of environmental variability on within-species behavioural diversity are lacking despite the critical assumption that population diversification precedes genetic divergence and speciation.

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Introduction: Although primary endoscopic sleeve gastroplasty (P-ESG) is effective, some patients may require revision procedures to augment weight loss. We hypothesized that a non-surgical approach using redo ESG (R-ESG) might be a viable option in such patients. We aimed to assess the safety and efficacy of R-ESG following P-ESG to treat obesity.

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Some studies have shown that patients with adolescent idiopathic scoliosis (AIS) have different anthropometric features compared with their peers such as taller stature, lower body mass index, and bone mineral density. Yet the causes explaining these differences remain uncertain. Nutritional intake and status, combined with physical activity, could explain these discrepancies.

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Individuals living or working in moldy buildings complain of a variety of health problems including pain, fatigue, increased anxiety, depression, and cognitive deficits. The ability of mold to cause such symptoms is controversial since no published research has examined the effects of controlled mold exposure on brain function or proposed a plausible mechanism of action. Patient symptoms following mold exposure are indistinguishable from those caused by innate immune activation following bacterial or viral exposure.

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