Publications by authors named "Elizabeth K Schmidt"

Article Synopsis
  • Duplex sequencing (DS) is a precise method that uses molecular barcodes to trace PCR copies back to their original DNA, allowing for effective error correction in sequencing results.
  • TwinStrand Biosciences has created a DS-based assay to examine genetic mutations in rats for toxicity testing, using a time-course study with ENU exposure.
  • Results showed significant increases in mutation frequency in rats' stomach and bone marrow as early as 24 hours post-exposure, establishing a specific mutational signature across different tissues, indicating the assay's effectiveness and reproducibility in assessing mutagenesis.
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Error-corrected duplex sequencing (DS) enables direct quantification of low-frequency mutations and offers tremendous potential for chemical mutagenicity assessment. We investigated the utility of DS to quantify induced mutation frequency (MF) and spectrum in human lymphoblastoid TK6 cells exposed to a prototypical DNA alkylating agent, N-ethyl-N-nitrosourea (ENU). Furthermore, we explored appropriate experimental parameters for this application, and assessed inter-laboratory reproducibility.

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Article Synopsis
  • Duplex sequencing (DuplexSeq) is an advanced method that links DNA strands to correct sequencing errors, allowing for accurate detection of mutations in tissues.
  • A study with male rats exposed to a chemical (ENU) showed significant increases in mutation frequency within 24 hours for certain tissues and confirmed a specific mutation pattern by day 7.
  • Results from different labs showed strong agreement, marking DuplexSeq as a reliable advancement over traditional gene mutation assays for testing genetic toxicity.
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Article Synopsis
  • Occupational therapy practitioners face numerous barriers when trying to apply evidence-based practices (EBPs) from research into their routine work with clients, prompting the creation of a Knowledge Translation (KT) Toolkit by the American Occupational Therapy Association.
  • A cross-sectional survey identified common barriers, such as lack of time and resources, and difficulties in understanding research findings, highlighting the need for better support in implementing EBPs.
  • The findings from the survey have guided the development of the KT Toolkit, which offers resources designed to help practitioners effectively search for, analyze, and apply evidence in their practice, and it will be updated regularly based on user feedback.
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Importance: People with intellectual and developmental disabilities (IDD) express a clear interest in intimate relationships but face many barriers to receiving sex education (SE) that would support their engagement in these relationships.

Objective: To understand barriers to, the context of, and recommendations for SE for people with IDD.

Design: Qualitative study design with interviews and focus groups with four key stakeholder groups.

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Mutations in mitochondrial DNA (mtDNA) cause maternally inherited diseases, while somatic mutations are linked to common diseases of aging. Although mtDNA mutations impact health, the processes that give rise to them are under considerable debate. To investigate the mechanism by which de novo mutations arise, we analyzed the distribution of naturally occurring somatic mutations across the mouse and human mtDNA obtained by Duplex Sequencing.

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Article Synopsis
  • Researchers used an organotypic human air-liquid-interface (ALI) airway model to study the toxicity of inhaled substances, focusing on DNA damage and mutagenesis caused by ethyl methanesulfonate (EMS).
  • They conducted experiments over 28 days, utilizing CometChip assays to measure DNA damage and Duplex Sequencing to quantify mutations, finding that EMS exposure led to increased DNA damage and mutation rates.
  • Despite showing cytotoxic effects and changes in cell structure and function, EMS did not significantly affect certain basal cell frequencies, indicating the ALI model's ability to assess multiple safety endpoints relevant to human airway health.
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Background: People with disabilities and chronic health conditions rely on a range of services and supports to complete daily tasks, maintain health, and participate in the community. Preliminary research suggests the COVID-19 pandemic greatly disrupted these services and this population may be particularly susceptible to unemployment.

Objective: Describe employment and service disruptions for individuals with disabilities and chronic health conditions during the onset of community-based spread of COVID-19 in the United States.

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Unlabelled: Activities of daily living (ADLs) are activities that people engage in on a routine basis, such as brushing their teeth, preparing a meal, and caring for their child. Independence with ADLs is associated with better outcomes in independent living, education, employment, relationships, and mental health. Therefore, this perspective piece includes a review of the literature and assessment databases to identify and summarize ADL assessments for Autistic adults.

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Background: Individuals with intellectual and developmental disabilities demonstrate disparities in sexual and reproductive health (SRH) compared to individuals without disabilities (e.g., lack of sexual education and knowledge, increased rates of abuse, unplanned pregnancies and sexually transmitted infections).

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Sexual and reproductive health is an important aspect of human development, but discussions with adolescents and young adults on this topic are often challenging for health-care providers. As a result, many adolescents and young adults do not receive appropriate, comprehensive sexual education, despite recognition from WHO and the UN that access to this education is a human right. Adolescents and young adults with mild to moderate intellectual or developmental disability, or both, are just as likely to be sexually active as are their peers without disability; however, these individuals are less likely to receive comprehensive sexual education.

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Self-advocacy is a client's ability to represent one's interests when managing disease or disability. Self-advocacy may increase one's ability to seek, evaluate, and use information to promote health, yet little is known about the role of occupational therapy in promoting self-advocacy. This scoping review aims to identify interventions within occupational therapists' scope of practice to improve self-advocacy.

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Article Synopsis
  • Somatic mutations in mitochondrial DNA (mtDNA) are associated with diseases and aging, and a new model using a cytidine deaminase, APOBEC1, induces specific mutations in Drosophila.
  • Unlike previous models that led to a high quantity of mutations with minimal effects on lifespan, mito-APOBEC1 induces only C:G>T:A transitions which significantly disrupts mitochondrial function.
  • The study highlights that the type of mutations (quality) is more important than the number of mutations (quantity) in affecting the overall fitness and health of the organism.
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Individuals with intellectual and developmental disabilities (I/DD) may have an increased risk of sexually transmitted infections (STIs) due to limited sexual health education and higher rates of sexual abuse, yet little is known about the prevalence of STIs and STI testing in this population. This study compared national samples of privately insured individuals with (n = 25,193) and without I/DD (n = 25,193) on the prevalence of STIs and STI testing. In multivariable models, individuals with I/DD were significantly less likely to have an STI diagnosis and no difference was found between groups on the odds of STI testing overall.

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Article Synopsis
  • Next-generation sequencing faces challenges like low recovery and false mutations mainly due to the randomness of DNA fragments created by sonication and bias in PCR amplification.
  • A new method called CRISPR-DS was developed, employing CRISPR/Cas9 to create uniform DNA fragments, which enhances target enrichment and reduces PCR bias significantly.
  • CRISPR-DS showcased its efficiency by successfully detecting low-frequency mutations in ovarian cancer samples, using much less DNA than traditional methods while providing accurate results.
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