Publications by authors named "Ernest S"

Heterozygous R391 TUBB4B pathogenic variations are responsible for an association of hearing loss and retinal dystrophy in human. With the goal of understanding the functions of TuBB4b and the pathogenic role of R391 variations, we characterized tubB4B in zebrafish and identified the gene regulatory elements necessary and sufficient for expression of TubB4b as in endogenous tissues. Using knock-out and transgenic approaches, we determined that R391 mutations impair neither localization of TubB4B within sensory hair cells (SHC) nor their structure, but induced to a small decrease in SHC number from anterior crista.

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Ecological forecasting models play an increasingly important role for managing natural resources and assessing our fundamental knowledge of processes driving ecological dynamics. As global environmental change pushes ecosystems beyond their historical conditions, the utility of these models may depend on their transferability to novel conditions. Because species interactions can alter resource use, timing of reproduction, and other aspects of a species' realized niche, changes in biotic conditions, which can arise from community reorganization events in response to environmental change, have the potential to impact model transferability.

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Background: Low-osmolarity oral rehydration salt (ORS) and zinc therapy effectively manage diarrhea in children under five years of age, offering both short- and long-term benefits. Despite this, caregivers' adherence to ORS and zinc is often unsatisfactory due to factors such as forgetfulness, resolution of symptoms, and underestimation of the disease's severity. This study assessed the effect of mobile call reminders on ORS and zinc tablet adherence among children with acute diarrhea in a secondary-level health facility in Kwara State, Nigeria.

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Introduction And Background: Individuals with substance use disorders (SUDs) are at an increased risk of developing comorbid medical conditions, including Type 2 diabetes. Although the diabetes prevention program (DPP) is efficacious and cost-effective, there is no published evidence to support its implementation in Nigeria or within SUD treatment settings. In this first known DPP within an SUD treatment program, we implemented a multiphased, nurse-led DPP at a small outpatient drug treatment center in Nigeria.

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Background: Children with sickle cell disease (SCD) are at potential risk of iron overload from chronic transfusion and probable iron deficiency due to accelerated growth. However, only few studies on the iron status of children with SCD in Nigeria are available.

Methodology: A cross-sectional study compared the iron status of 109 children with sickle cell disease with 109 age and sex-matched haemoglobin AA controls at the University of Ilorin Teaching Hospital.

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Article Synopsis
  • Cochleovestibular dysfunctions are uncommon and often misdiagnosed, with a specific genetic mutation linked to these conditions.
  • A pathogenic variant in the RIPOR2 gene was found in Tunisian siblings who have severe hearing and balance issues.
  • Unlike the patients, animal models with Ripor2 mutations (like mice and zebrafish) maintain normal vestibular function, highlighting differences in how this mutation affects different species.
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For many species, a well documented response to anthropogenic climate change is a shift in various aspects of its life history, including its timing or phenology. Often, these phenological shifts are associated with changes in abiotic factors used as proxies for resource availability or other suitable conditions. Resource availability, however, can also be impacted by competition, but the impact of competition on phenology is less studied than abiotic drivers.

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Background: Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants in and , which have been previously associated with this disorder.

Methods: We sequenced the exome of patients with unexplained PDAC syndrome and performed functional validation of candidate variants.

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Advances in artificial intelligence for computer vision hold great promise for increasing the scales at which ecological systems can be studied. The distribution and behavior of individuals is central to ecology, and computer vision using deep neural networks can learn to detect individual objects in imagery. However, developing supervised models for ecological monitoring is challenging because it requires large amounts of human-labeled training data, requires advanced technical expertise and computational infrastructure, and is prone to overfitting.

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Understanding the ecological processes that maintain community function in systems experiencing species loss, and how these processes change over time, is key to understanding the relationship between community structure and function and predicting how communities may respond to perturbations in the Anthropocene. Using a 30-year experiment on desert rodents, we show that the impact of species loss on community-level energy use has changed repeatedly and dramatically over time, due to (1) the addition of new species to the community, and (2) a reduction in functional redundancy among the same set of species. Although strong compensation, initially driven by the dispersal of functionally redundant species to the local community, occurred in this system from 1997 to 2010, since 2010, compensation has broken down due to decreasing functional overlap within the same set of species.

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Background: Children with acute febrile illness with no localizing signs often receive antibiotics empirically in most resource-poor settings. However, little is known about the burden of bacteremia in this category of patients, and an appraisal is thus warranted. This will guide clinical practice and promote rational antibiotics use.

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Loss-of-function variants in KMT2D are responsible for Kabuki syndrome type 1 (KS1). In the last 5 years, missense variants in exon 38 or 39 in KMT2D have been found in patients exhibiting a new phenotype with multiple malformations and absence of intellectual disability, distinct from KS1. To date, only 16 cases have been reported with classic features of hearing loss, abnormality of the ear, lacrimal duct defects, branchial sinus/neck pits, choanal atresia (CA), athelia, hypo(para)thyroidism, growth delay, and dental anomalies.

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Background: Radial arterial line placement is commonly performed in various clinical settings, including the emergency department. However, learners are successful on the first attempt only half of the time. Simulation can provide learners with procedure practice opportunities outside of clinical practice to increase confidence and chances of success.

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Exploring and accounting for the emergent properties of ecosystems as complex systems is a promising horizon in the search for general processes to explain common ecological patterns. For example the ubiquitous hollow-curve form of the species abundance distribution is frequently assumed to reflect ecological processes structuring communities, but can also emerge as a statistical phenomenon from the mathematical definition of an abundance distribution. Although the hollow curve may be a statistical artefact, ecological processes may induce subtle deviations between empirical species abundance distributions and their statistically most probable forms.

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Probabilistic near-term forecasting facilitates evaluation of model predictions against observations and is of pressing need in ecology to inform environmental decision-making and effect societal change. Despite this imperative, many ecologists are unfamiliar with the widely used tools for evaluating probabilistic forecasts developed in other fields. We address this gap by reviewing the literature on probabilistic forecast evaluation from diverse fields including climatology, economics, and epidemiology.

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Regional long-term monitoring can enhance the detection of biodiversity declines associated with climate change, improving future projections by reducing reliance on space-for-time substitution and increasing scalability. Rodents are diverse and important consumers in drylands, regions defined by the scarcity of water that cover 45% of Earth's land surface and face increasingly drier and more variable climates. We analyzed abundance data for 22 rodent species across grassland, shrubland, ecotone, and woodland ecosystems in the southwestern USA.

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Life-history traits represent organisms' strategies to navigate the fitness trade-offs between survival and reproduction. Eric Charnov developed three dimensionless metrics to quantify fundamental life-history trade-offs. Lifetime reproductive effort (LRE), relative reproductive lifespan (RRL) and relative offspring size (ROS), together with body mass can be used to classify life-history strategies across the four major classes of tetrapods: amphibians, reptiles, mammals and birds.

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Insects are the most ubiquitous and diverse group of eukaryotic organisms on Earth, forming a crucial link in terrestrial and freshwater food webs. They have recently become the subject of headlines because of observations of dramatic declines in some places. Although there are hundreds of long-term insect monitoring programs, a global database for long-term data on insect assemblages has so far remained unavailable.

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Introduction: Uterine ruptures in blunt trauma are an extremely rare complication. Furthermore, while perimortem cesarean sections in cardiac arrest patients are a well-established practice in emergency medicine, cesarean sections in the emergency department are rarely performed on non-arresting patients.

Case Report: A multigravida woman at approximately 24 weeks gestation presented as a transfer from an outside hospital after a motor vehicle collision.

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Postdocs are a critical transition for early-career researchers. This transient period, between finishing a PhD and finding a permanent position, is when early-career researchers develop independent research programs and establish collaborative relationships that can make a successful career. Traditionally, postdocs physically relocate-sometimes multiple times-for these short-term appointments, which creates challenges that can disproportionately affect members of traditionally underrepresented groups in science, technology, engineering, and mathematics (STEM).

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Although eating disorders are on the psychiatric spectrum, they can have serious associated medical complications. Patients with eating disorders may present with complaints common to the emergency department such as abdominal pain, chest pain, syncope, or palpitations, but management of these conditions in eating disordered patients can pose a challenge. This issue provides a systems-based approach to the history, physical examination, evaluation, and treatment of acute complications of eating disorders, with a specific focus on the pathophysiology and management differences between an otherwise healthy patient and a patient with an eating disorder.

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Human activities alter processes that control local biodiversity, causing changes in the abundance and identity of species in ecosystems. However, restoring biodiversity to a previous state is rarely as simple as reintroducing lost species or restoring processes to their pre-disturbance state. Theory suggests that established species can impede shifts in species composition via a variety of mechanisms, including direct interference, pre-empting resources or habitat alteration.

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Across landscapes, shifts in species composition often co-occur with shifts in structural or abiotic habitat features, making it difficult to disentangle the role of competitors and environment on assessments of patch quality. Using over two decades of rodent community data from a long-term experiment, we show that a small, ubiquitous granivore (Chaetodipus penicillatus) shifted its use of different experimental treatments with the establishment of a novel competitor, C. baileyi.

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Over the past decade, biology has undergone a data revolution in how researchers collect data and the amount of data being collected. An emerging challenge that has received limited attention in biology is managing, working with, and providing access to data under continual active collection. Regularly updated data present unique challenges in quality assurance and control, data publication, archiving, and reproducibility.

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