Publications by authors named "Cornett K"

Article Synopsis
  • Sunburn during adolescence raises the risk of skin cancer later in life, and this study looks into the connection between participating in sports teams and experiencing sunburns among U.S. high school students.
  • According to data from the 2021 National Youth Risk Behavior Survey, 64.4% of high school students reported having at least one sunburn in the past year, and 49.1% had been involved in sports teams during that time.
  • The findings indicate that student athletes have a higher prevalence of sunburns (adjusted prevalence ratio of 1.2) compared to non-athletes, highlighting the need for effective sun safety policies for young athletes.
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  • The study investigates the link between RNA alternative splicing abnormalities and physical function in children with congenital myotonic dystrophy (CDM), a severe form of myotonic dystrophy type 1 (DM1).
  • Researchers analyzed data from 82 participants, including adults with DM1 and children with CDM, assessing muscle biopsies, motor function, strength, and myotonia.
  • Results showed a significant correlation between myotonia and RNA mis-splicing in all DM1 individuals, while motor performance and strength were associated with splicing dysregulation, aiding future clinical trial designs for DM1 and CDM.
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  • Implementing scientific findings in clinical practice is challenging, highlighting the need for effective dissemination of important research.
  • This study created a multilingual Practice Brief to promote safe and effective exercise for children with Charcot-Marie-Tooth disease, based on an existing clinical guideline.
  • The Practice Brief was collaboratively developed by health professionals and will be distributed through various online and print platforms to reach medical professionals involved in CMT rehabilitation.
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Schools are in a unique position to offer opportunities for students to be physically active throughout the school day and promote health and well-being. However, experiences that threaten safety or perceptions of safety might affect students' physical activity behaviors. Using the 2023 national Youth Risk Behavior Survey, six physical activity behaviors and five negative safety and violence experiences were examined from a nationally representative sample of U.

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The aim of this longitudinal case series was to describe long-term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high-dose oral riboflavin. Data were collected between 2012 to 2022. Eleven individuals with RTD were assessed at 12-month intervals for monitoring of disease progression.

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Article Synopsis
  • - The study investigates the link between RNA alternative splicing dysregulation, a key feature of myotonic dystrophy type 1 (DM1), and physical function in children with congenital myotonic dystrophy (CDM), a severe form of the disease.
  • - Researchers combined data from 82 participants (42 adults with DM1 and 40 children with CDM) to analyze muscle biopsies and assess their myotonia, motor function, and strength, finding significant correlations between muscle performance and alternative splicing measures.
  • - The results indicate strong associations between RNA mis-splicing, muscle strength, and motor performance across all DM1 subjects, helping to develop predictive models that could guide future clinical trials for treating DM
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Introduction: Employees are often placed within an organization based on their respective roles or duties, which can lead to vertical and horizontal organizational silos. Organizational silos may restrict information, resources, and stymie progress and innovation. This analysis presents a framework to mitigate silos and overcome communication barriers within an organization by increasing collaboration.

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Muscle strength is routinely measured in patients with neuromuscular disorders by hand-held dynamometry incorporating a wireless load cell to evaluate disease severity and therapeutic efficacy, with magnitude of effect often based on normative reference values. While several hand-held dynamometers exist, their interchangeability is unknown which limits the utility of normative data. We investigated the variability between six commercially available dynamometers for measuring the isometric muscle strength of four muscle groups in thirty healthy individuals.

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Background And Aims: Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure. A robust and responsive functional outcome measure is essential for future clinical trials of disease-modifying therapies including genetic therapies. The Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) is a well-validated outcome measure for CMT and related neuropathies, and might have utility for measuring disease progression in individuals with RTD.

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Background And Objectives: Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of , is the most common hereditary peripheral neuropathy. For participants with CMT1A, few clinical trials have been performed; however, multiple therapies have reached an advanced stage of preclinical development. In preparation for imminent clinical trials in participants with CMT1A, we have produced a Clinical Outcome Assessment (COA), known as the CMT-Functional Outcome Measure (CMT-FOM), in accordance with the FDA Roadmap to Patient-Focused Outcome Measurement to capture the key clinical end point of function.

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Background: There are many ways to increase physical activity (PA) during the school day as part of a Comprehensive School Physical Activity Plan. This article reviews policies and practices that can be used during the school day to increase PA for students.

Methods: We searched systematic reviews for articles that met criteria (2010-2018, phase 1), followed by a search for individual articles addressing topics for which we did not identify a sufficiently relevant or recent review or to update an earlier review that concluded insufficient evidence (2010-2020, phase 2).

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Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation is beneficial in short-term reports, but the quantum of benefit in various clinical domains is not well understood. A PubMed search was conducted, which identified 94 genetically confirmed cases of RTD who received riboflavin supplementation and had follow-up assessments.

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Article Synopsis
  • The study aimed to assess how body mass index (BMI) affects disease progression in children with Charcot-Marie-Tooth disease (CMT) over two years.
  • Researchers evaluated 242 participants aged 3-20 years, classifying their BMI to compare disability levels using the CMT Pediatric Scale (CMTPedS).
  • Results showed that severely underweight and obese children had significantly greater disability compared to those with a healthy weight, with severely underweight children experiencing the fastest deterioration over the two years.
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The fall of 2021 was the first school semester to begin with widespread in-person learning since the COVID-19 pandemic began. Understanding dietary and physical activity behaviors of adolescents during this time can provide insight into potential health equity gaps and programmatic needs in schools and communities. This report uses data from the 2021 national Youth Risk Behavior Survey conducted among a nationally representative sample of U.

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The disruption of school operations and routines caused by the COVID-19 pandemic affected students' physical and emotional well-being. Providing physical activity opportunities in schools can encourage students to positively engage with each other. Using a nationally representative sample of U.

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Neuroblastoma is a pediatric cancer of neural crest cells. It develops most frequently in nerve cells around the adrenal gland, although other locations are possible. Neuroblastomas rely on glycolysis as a source of energy and metabolites, and the enzymes that catalyze glycolysis are potential therapeutic targets for neuroblastoma.

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Increasing active travel to school (ATS) could reduce the deficit in youth physical activity participation; however, surveillance of ATS is limited. Given that ATS contributes to our understanding of children's physical activity patterns nationwide, is influenced by local contexts and state laws, and occurs within communities, surveillance could be informative at the national, state, and local levels. Following a National Collaborative on Childhood Obesity Research workshop, this commentary offers insights into strengthening surveillance and data collection of ATS behavior as well as ATS environmental, policy, and program supports.

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Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral disturbances. Biopsied muscle studies demonstrated deficient cytochrome c oxidase activities consistent with a mitochondrial disease.

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Article Synopsis
  • The study explored the link between body mass index (BMI) and disability in children with Charcot-Marie-Tooth disease (CMT), comparing them to a group of healthy children.
  • It found a higher percentage of CMT children categorized as severely underweight, underweight, and obese, while fewer were considered healthy weight compared to the healthy group.
  • The research indicated that children with CMT who were either severely underweight or obese experienced greater disability than those with a healthy weight, highlighting the impact of BMI on their well-being.
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Objective: To estimate muscle oxygen uptake and quantify fatigue during exercise in ambulatory individuals with spinal muscular atrophy (SMA) and healthy controls.

Methods: Peak aerobic capacity (VO ) and workload (W ) were measured by cardiopulmonary exercise test (CPET) in 19 ambulatory SMA patients and 16 healthy controls. Submaximal exercise (SME) at 40% W was performed for 10 minutes.

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The importance of physical activity and community-level promotion strategies are well established, but little is known about adult perception of the importance of physical activity. In a nationwide sample of US adults, we examined self-reported importance of regular physical activity and the importance of living in walkable neighborhoods. About 55% of adults strongly agreed that regular physical activity is important, 40% strongly agreed that living in a walkable neighborhood is important, and 31% strongly agreed that both are important.

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