Publications by authors named "Pugh E"

Introduction: Alzheimer's disease (AD) is characterized by the presence of two proteinopathies, amyloid and tau, which have a cascading effect on the functional and structural organization of the brain.

Methods: In this study, we used a supervised machine learning technique to build a model of functional connections that predicts cerebrospinal fluid (CSF) p-tau/Aβ (the PATH-fc model). Resting-state functional magnetic resonance imaging (fMRI) data from 289 older adults in the Alzheimer's Disease Neuroimaging Initiative (ADNI) were utilized for this model.

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Type 2 diabetes (T2D) is a common, chronic condition. People with T2D often report poor mental wellbeing and treatment engagement, especially when stressed. Coping mechanisms may help manage stress, but it is crucial to identify which strategies are most common and (mal)adaptive.

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To identify modifier loci underlying variation in body mass index (BMI) in persons with cystic fibrosis (pwCF), we performed a genome-wide association study (GWAS). Utilizing longitudinal height and weight data, along with demographic information and covariates from 4,393 pwCF, we calculated AvgBMIz representing the average of per-quarter BMI Z scores. The GWAS incorporated 9.

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Our food system is giving rise to a growing social, health and environmental crisis. Much of the food consumed in the United Kingdom is cheap, nutrient-poor and highly processed, leading to under-consumption of essential foods such as grains, beans, vegetables and fruit. This has contributed to a rise in diet-related diseases, with approximately 22% of primary school leavers being overweight or obese.

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Background: Cystic fibrosis (CF) is caused by deleterious variants in each CFTR gene. We investigated the utility of whole-gene CFTR sequencing when fewer than two pathogenic or likely pathogenic (P/LP) variants were detected by conventional testing (sequencing of exons and flanking introns) of CFTR.

Methods: Individuals with features of CF and a CF-diagnostic sweat chloride concentration with zero or one P/LP variants identified by conventional testing enrolled in the CF Mutation Analysis Program (MAP) underwent whole-gene CFTR sequencing.

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Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV.

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Article Synopsis
  • Healthy aging affects how our brains process speech, particularly in noisy environments, leading to changes in the networks involved in speech perception.
  • Using fNIRS, researchers found that speech perception scores decline with age, particularly as background noise increases, and that older adults show greater connections between key brain areas (Wernicke's areas) to help compensate.
  • Graph-theoretical analysis indicates that despite age-related challenges, older adults' brains may become more efficient at processing speech, leveraging additional resources to maintain communication ability in difficult listening situations.
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Lung disease is the major cause of morbidity and mortality in persons with cystic fibrosis (pwCF). Variability in CF lung disease has substantial non-CFTR (CF transmembrane conductance regulator) genetic influence. Identification of genetic modifiers has prognostic and therapeutic importance.

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Fetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder characterized by cognitive and adaptive impairment. FASF can be presented or not with sentinel facial features (SFF). The presence of such SFF have been positively correlated with cognitive impairment in children with FASD.

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Objective: Previous research has shown that both criterion grouping approaches and cutoff scores can impact PVT classification accuracy statistics. This study aimed to examine the influence of cutoff scores and criterion grouping approaches on The b Test, a measure designed to identify feigned impairment in visual scanning, processing speed, and letter identification.

Method: Two hundred ninety-seven adults referred for psychoeducational testing were included with the majority of individuals seeking academic accommodations ( = 215).

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Recent genome wide association studies have identified 89 common genetic variants robustly associated with ischemic stroke and primarily located in non-coding regions. To evaluate the contribution of coding variants, which are mostly rare, we performed an exome array analysis on 106,101 SNPs for 9721 ischemic stroke cases from the SiGN Consortium, and 12,345 subjects with no history of stroke from the Health Retirement Study and SiGN consortium. We identified 15 coding variants significantly associated with all ischemic stroke at array-wide threshold (i.

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Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues.

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Article Synopsis
  • - Individuals with cystic fibrosis (CF) can develop complications like cystic fibrosis-related diabetes (CFRD) and meconium ileus (MI), which are influenced by genetic factors beyond the CFTR gene.
  • - A study using whole-genome sequencing identified 11 genetic variants linked to MI and 12 to CFRD, with some variants (like those in SLC26A9, CEBPB, and PRSS1) affecting both conditions.
  • - While some genetic loci increase the risk for both CFRD and MI, others specifically impact one condition, suggesting both differences and shared genetic mechanisms between these complications.
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Human cone outer segment (COS) length changes in response to stimuli bleaching up to 99% of L- and M-cone opsins were measured with high resolution, phase-resolved optical coherence tomography (OCT). Responses comprised a fast phase (∼5 ms), during which COSs shrink, and two slower phases (1.5 s), during which COSs elongate.

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Introduction: Mentor relationships are important in developing and supporting professional self-efficacy among psychology trainees. Additionally, the rapid diversification of the United States calls for the preparation of clinical neuropsychology trainees to work within a multicultural context. The present study aimed to assess neuropsychology trainees' perceptions of multicultural climate and supervision and if these perceptions differ based on trainee demographics.

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COVID-19 represents the newest health disparity faced by African Americans (AA). This study assessed the impact of COVID-19 on barriers and willingness to participate in research among older AAs. An online survey was sent to a nationwide sample of 65- to 85-year-old AAs between January and February 2021.

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Aging and language background have been shown to affect pitch information encoding at the subcortical level. To study the individual and compounded effects on subcortical pitch information encoding, Frequency Following Responses were recorded from subjects across various ages and language backgrounds. Differences were found in pitch information encoding strength and accuracy among the groups, indicating that language experience and aging affect accuracy and magnitude of pitch information encoding ability at the subcortical level.

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Objective: To examine predictors of informant-reported everyday functioning in mild cognitive impairment (MCI) and relations between everyday function and conversion to dementia.

Methods: Informants of participants (n = 2614) with mild cognitive impairment (MCI) were administered the Functional Activities Questionnaire (FAQ). Changes in dimensions of functional ability as determined by an exploratory factor analysis (EFA) were examined over 3 years and participant predictors of change were examined using multilevel modeling (MLM).

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Cystic fibrosis (CF) is a severe genetic disorder that can cause multiple comorbidities affecting the lungs, the pancreas, the luminal digestive system and beyond. In our previous genome-wide association studies (GWAS), we genotyped approximately 8,000 CF samples using a mixture of different genotyping platforms. More recently, the Cystic Fibrosis Genome Project (CFGP) performed deep (approximately 30×) whole genome sequencing (WGS) of 5,095 samples to better understand the genetic mechanisms underlying clinical heterogeneity among patients with CF.

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An 11-year-old neutered male Border Terrier presented for pericardiectomy after a nine-month history of tricavitary effusion, dyspnoea and lethargy. Transthoracic echocardiography revealed a fluid-filled structure at the heart base, starting at the mid-right ventricle and extending to the middle of the right atrium. Almost complete compression of the right atrium and the cranial vena cava was noted.

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Objectives: Subjective cognitive complaints (SCCs) have shown to be useful predictors of objective cognitive decline in older adults. Though psychopathology symptoms (e.g.

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Background: United States Census Bureau projects African Americans (AAs) will be one of the fastest growing populations over the next 30 years. Research suggests they are at higher risk for developing dementia. It is important to know about AA adults' beliefs about, and knowledge of, dementia; and how these beliefs and knowledge impact participation in dementia research.

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Objectives: Subjective cognitive difficulties in the elderly may serve as potential risk-factors for future, objective decline and conversion to neurodegenerative disorders (e.g., mild cognitive impairment [MCI] and dementia).

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Melanosomes, lipofuscin, and melanolipofuscin are the three principal types of pigmented granules found in retinal pigment epithelium (RPE) cells. Changes in the density of melanosomes and lipofuscin in RPE cells are considered hallmarks of various retinal diseases, including Stargardt disease and age-related macular degeneration (AMD). Herein, we report the potential of an in vivo multimodal imaging technique based on directional back-scattering and short-wavelength fundus autofluorescence (SW-FAF) to study disease-related changes in the density of melanosomes and lipofuscin granules in RPE cells.

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