Joseph H. Lee
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View article: Examination of metabolic syndrome in Down syndrome and association with dementia
Examination of metabolic syndrome in Down syndrome and association with dementia Open
INTRODUCTION In the neurotypical population, metabolic syndrome (MetS) is associated with Alzheimer's disease (AD). However, this has not been well studied in adults with Down syndrome (DS). METHODS The prevalence of MetS and its subcompon…
View article: Alzheimer's disease diagnostic progression is associated with cerebrovascular disease and neuroinflammation in adults with Down syndrome
Alzheimer's disease diagnostic progression is associated with cerebrovascular disease and neuroinflammation in adults with Down syndrome Open
INTRODUCTION Despite having few vascular risk factors, people with Down syndrome (DS) have MRI evidence of cerebrovascular disease (CVD) and neuroinflammation that worsens with Alzheimer's disease (AD) severity. We investigated whether mar…
View article: Perception of Quality of Life, Brain Regions, and Cognitive Performance in Hispanic Adults: A Canonical Correlation Approach
Perception of Quality of Life, Brain Regions, and Cognitive Performance in Hispanic Adults: A Canonical Correlation Approach Open
The quality of life (QoL) perception has been studied in neurological diseases; however, there is limited information linking brain morphological characteristics, QoL, and cognition. Human behavior and perception are associated with specif…
View article: Preliminary Investigation of Obstructive Sleep Apnea and Alzheimer’s Disease in Down Syndrome
Preliminary Investigation of Obstructive Sleep Apnea and Alzheimer’s Disease in Down Syndrome Open
This study provided a preliminary examination of indices of obstructive sleep apnea (OSA) and sleep disruptions in adults with Down syndrome (DS), and their associations with Alzheimer’s disease (AD) pathology and symptomatology. Ninety-th…
View article: Utility of Polygenic Risk Scores in Families with Exceptional Longevity
Utility of Polygenic Risk Scores in Families with Exceptional Longevity Open
Introduction Polygenic risk scores (PRS) have been used to assess an individual’s risk for various diseases, including Alzheimer’s disease (AD). This study applied the PRS approach to a cohort of families ascertained for healthy aging, tha…
View article: Genome‐wide association of tau neuroimaging and plasma biomarkers in adults with Down syndrome
Genome‐wide association of tau neuroimaging and plasma biomarkers in adults with Down syndrome Open
INTRODUCTION Plasma biomarkers in Down syndrome (DS) accurately detect Alzheimer's disease (AD) pathology. This study aimed to identify genetic loci associated with plasma tau biomarkers (phosphorylated tau [p‐tau]181, p‐tau217, total tau …
View article: Genome‐wide association analyses identify candidate loci for amyloid imaging and plasma biomarkers in adults with Down syndrome
Genome‐wide association analyses identify candidate loci for amyloid imaging and plasma biomarkers in adults with Down syndrome Open
BACKGROUND People with Down syndrome (DS) overproduce amyloid‐beta (Aβ) due to triplication of the amyloid precursor protein ( APP ) gene on chromosome 21, and consequently accumulate brain amyloid load at younger ages. We conducted genome…
View article: Joint spatial associations of amyloid beta and tau pathology in Down syndrome and preclinical Alzheimer's disease: Cross‐sectional associations with early cognitive impairments
Joint spatial associations of amyloid beta and tau pathology in Down syndrome and preclinical Alzheimer's disease: Cross‐sectional associations with early cognitive impairments Open
INTRODUCTION Individuals with Down syndrome (DS) have elevated risks for Alzheimer's disease (AD) due to amyloid beta (Aβ) precursor protein overexpression, with nearly all developing AD pathology by age 40 at autopsy. This study examined …
View article: StochasTok: Improving Fine-Grained Subword Understanding in LLMs
StochasTok: Improving Fine-Grained Subword Understanding in LLMs Open
Subword-level understanding is integral to numerous tasks, including understanding multi-digit numbers, spelling mistakes, abbreviations, rhyming, and wordplay. Despite this, current large language models (LLMs) still often struggle with s…
View article: Longitudinal study of body mass index in relation to Alzheimer's disease pathology and symptomatology in Down syndrome
Longitudinal study of body mass index in relation to Alzheimer's disease pathology and symptomatology in Down syndrome Open
INTRODUCTION Weight loss has been linked to early Alzheimer's disease (AD) pathology, possibly through metabolic dysregulation. We examined changes in body mass index (BMI) in relation to AD biomarkers (amyloid beta [Aβ] and tau) and cogni…
View article: Inflammasome Activation in Cutaneous Squamous Cell Carcinoma
Inflammasome Activation in Cutaneous Squamous Cell Carcinoma Open
Epithelia maintain their barrier function by exploiting the proliferative and plastic properties of stem cells to promote continual tissue regeneration. Consequently, however, these features make epithelia prone to tumorigenesis. Skin is t…
View article: The Alzheimer's Biomarker Consortium–Down Syndrome (ABC‐DS): A 10‐year report
The Alzheimer's Biomarker Consortium–Down Syndrome (ABC‐DS): A 10‐year report Open
INTRODUCTION Virtually all adults with Down syndrome (DS) will accumulate the neuropathologies associated with Alzheimer's disease (AD) by age 40, with the majority having a clinical dementia diagnosis by their middle 50s. METHODS This pap…
View article: Behavioral and psychological symptoms of dementia and Alzheimer’s disease progression in Down syndrome
Behavioral and psychological symptoms of dementia and Alzheimer’s disease progression in Down syndrome Open
Background Adults with Down syndrome (DS) have a 90% lifetime risk for Alzheimer’s disease (AD), with neurobiological pathology present decades prior to dementia onset. The profile and timing of cognitive decline in DS is well-documented. …
View article: Longitudinal investigation of gait and Alzheimer's disease in adults with Down syndrome
Longitudinal investigation of gait and Alzheimer's disease in adults with Down syndrome Open
INTRODUCTION Gait abnormalities are associated with Alzheimer's disease (AD) in the general population, but it is unclear if the same is true for individuals with Down syndrome (DS). This study examined gait across 32 months in relation to…
View article: Baseline associations of office and ambulatory blood pressure monitoring with cognitive function and dementia prevalence
Baseline associations of office and ambulatory blood pressure monitoring with cognitive function and dementia prevalence Open
Background High blood pressure has been associated with dementia prevalence and incident. However, it is unclear the relationship of office and ambulatory BP monitoring with cognitive function and dementia and in particular, it remains unk…
View article: Immunological and pathobiological characteristics of a novel live Salmonella Typhimurium-vectored Campylobacter vaccine candidate for layer chickens
Immunological and pathobiological characteristics of a novel live Salmonella Typhimurium-vectored Campylobacter vaccine candidate for layer chickens Open
Introduction Spotty liver disease (SLD) poses a significant economic and animal welfare threat to the global cage-free egg industry, primarily due to infection by the emerging pathogen Campylobacter hepaticus . SLD can lead to a significan…
View article: Correlating hippocampal and amygdala volumes with neuropathological burden in Down syndrome and Alzheimer’s disease and related neurodegenerative pathologies using 7T postmortem MRI
Correlating hippocampal and amygdala volumes with neuropathological burden in Down syndrome and Alzheimer’s disease and related neurodegenerative pathologies using 7T postmortem MRI Open
Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC), is common in elderly brains and often seen in conjunction with Alzheimer’s disease neuropathologic change (ADNC). LATE-NC typically begins in the amygda…
View article: Evidence of a novel gene locus <i>ARHGAP44</i> for longitudinal change in hemoglobin A1c levels among subjects without diabetes from the Long Life Family Study
Evidence of a novel gene locus <i>ARHGAP44</i> for longitudinal change in hemoglobin A1c levels among subjects without diabetes from the Long Life Family Study Open
HbA1c is clinically used in T2D diagnosis and monitoring. Its longitudinal change (ΔHbA1c) is associated with T2D-related aging processes and mortality. Targeted association tests under significant linkage peaks in extended families permit…
View article: Preliminary investigation of obstructive sleep apnea and Alzheimer’s disease in down syndrome
Preliminary investigation of obstructive sleep apnea and Alzheimer’s disease in down syndrome Open
This study provided a preliminary examination of indices of obstructive sleep apsnea (OSA) and sleep disruptions in adults with Down syndrome (DS), and their associations with Alzheimer’s disease (AD) pathology and symptomatology. A total …
View article: Validity of one‐time assessments for identifying prodromal Alzheimer's disease in adults with Down syndrome
Validity of one‐time assessments for identifying prodromal Alzheimer's disease in adults with Down syndrome Open
Introduction New Alzheimer's disease (AD) treatments have created an urgent need for accurate early diagnosis of high‐risk adults with Down syndrome (DS), distinguishing prodromal DS‐AD symptoms from lifelong cognitive impairments. Often, …
View article: A comparison of multiple amyloid PET radiotracers for Down syndrome clinical trials
A comparison of multiple amyloid PET radiotracers for Down syndrome clinical trials Open
Adults with Down syndrome carry high risk of developing Alzheimer’s disease and efforts to include this population in clinical trials remain limited. A barrier to recruitment for anti-amyloid trials includes the availability of the same am…
View article: The Impact of Genetic Polymorphism on Complication Development in Heart Failure Patients
The Impact of Genetic Polymorphism on Complication Development in Heart Failure Patients Open
Background: Despite the high progress that has been made in the field of cardiology, the left ventricular assist device (LVAD) can still cause complications (thrombosis/bleeding) in heart failure (HF) patients after implantation. Complicat…
View article: LIMITATIONS OF POLYGENIC RISK SCORES FOR DEMENTIA IN FAMILIAL EXCEPTIONAL AGING: IMPACT OF SAMPLING
LIMITATIONS OF POLYGENIC RISK SCORES FOR DEMENTIA IN FAMILIAL EXCEPTIONAL AGING: IMPACT OF SAMPLING Open
Genetic risk factors for late-onset Alzheimer’s disease (LOAD) have been extensively studied in the general population of European background. Indeed, significant genetic variants with low to moderate contributions to LOAD have been used t…
View article: Brain Volumetric Trajectories in Down Syndrome and Autosomal Dominant Alzheimer Disease
Brain Volumetric Trajectories in Down Syndrome and Autosomal Dominant Alzheimer Disease Open
Background Alzheimer disease (AD) related cognitive decline occurs at relatively young ages in individuals with Down syndrome (DS, early‐mid 50s) and in those with autosomal dominant mutations (ADAD, 40‐50s). Both groups show similar patte…
View article: Genome‐wide association of Tau imaging and plasma biomarkers in adults with Down Syndrome
Genome‐wide association of Tau imaging and plasma biomarkers in adults with Down Syndrome Open
Background Adults with Down Syndrome (DS) clearly show a higher risk of developing Alzheimer's disease (AD) when compared with the general population. Thus, it is important to investigate the role AD‐related biomarkers in adults with DS. H…
View article: Association of Cognitive Function with Mortality and Cardiovascular Risk
Association of Cognitive Function with Mortality and Cardiovascular Risk Open
Background Cognitive impairment is associated with mortality. However, evidence using population‐based studies is scarce, is limited to one cognitive assessment, and lacks the inclusion of non‐fatal adverse health outcomes. Therefore, we a…