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Articles 121 - 150 of 174
Full-Text Articles in Medical Sciences
Systemic Treatment Of Recessive Dystrophic Epidermolysis Bullosa With Mesenchymal Stromal Cells: A Scoping Review Of The Literature And Conclusions For Future Clinical Research, Elke Niebergall-Roth, Kathrin Dieter, Markus H. Frank, Mark A. Kluth
Systemic Treatment Of Recessive Dystrophic Epidermolysis Bullosa With Mesenchymal Stromal Cells: A Scoping Review Of The Literature And Conclusions For Future Clinical Research, Elke Niebergall-Roth, Kathrin Dieter, Markus H. Frank, Mark A. Kluth
Research outputs 2022 to 2026
Background: The ability of mesenchymal stromal cells (MSCs) to facilitate regenerative responses in inflamed and injured tissues, coupled with preclinical data suggesting potential to restore defective collagen VII at the dermo-epidermal junction, has raised the hope that MSCs may provide an effective disease-modifying therapy for patients suffering from recessive dystrophic epidermolysis bullosa (RDEB). Methods: We present a descriptive analysis of the clinical research on systemic MSC administration to RDEB patients available in PubMed, including six early-phase studies and one case report, involving 59 patients who received 1–3 intravenous infusions of MSCs from various sources. Results: Based on 133 MSC infusions, …
Excitatory Drive To Spinal Motoneurones Is Necessary For Serotonin To Modulate Motoneurone Excitability Via 5-Ht2 Receptors In Humans, Tyler T. Henderson, Janet L. Taylor, Jacob R. Thorstensen, Justin J. Kavanagh
Excitatory Drive To Spinal Motoneurones Is Necessary For Serotonin To Modulate Motoneurone Excitability Via 5-Ht2 Receptors In Humans, Tyler T. Henderson, Janet L. Taylor, Jacob R. Thorstensen, Justin J. Kavanagh
Research outputs 2022 to 2026
Serotonin modulates corticospinal excitability, motoneurone firing rates and contractile strength via 5-HT2 receptors. However, the effects of these receptors on cortical and motoneurone excitability during voluntary contractions have not been explored in humans. Therefore, the purpose of this study was to investigate how 5-HT2 antagonism affects corticospinal and motoneuronal excitability with and without descending drive to motoneurones. Twelve individuals (aged 24 ± 4 years) participated in a double-blind, placebo-controlled, crossover study, whereby the 5-HT2 antagonist cyproheptadine was administered. Transcranial magnetic stimulation (TMS) was delivered to the motor cortex to produce motor evoked potentials (MEPs), and electrical stimulation at the cervicomedullary …
Predicting Neurodegeneration From Sleep Related Biofluid Changes, Yue Yang, Woojin S. Kim, Johannes C. Michaelian, Simon J. G. Lewis, Craig L. Phillips, Angela L. D'Rozario, Pratishtha Chatterjee, Ralph N. Martins, Ron Grunstein, Glenda M. Halliday, Sharon L. Naismith
Predicting Neurodegeneration From Sleep Related Biofluid Changes, Yue Yang, Woojin S. Kim, Johannes C. Michaelian, Simon J. G. Lewis, Craig L. Phillips, Angela L. D'Rozario, Pratishtha Chatterjee, Ralph N. Martins, Ron Grunstein, Glenda M. Halliday, Sharon L. Naismith
Research outputs 2022 to 2026
Sleep-wake disturbances are common in neurodegenerative diseases and may occur years before the clinical diagnosis, potentially either representing an early stage of the disease itself or acting as a pathophysiological driver. Therefore, discovering biomarkers that identify individuals with sleep-wake disturbances who are at risk of developing neurodegenerative diseases will allow early diagnosis and intervention. Given the association between sleep and neurodegeneration, the most frequently analyzed fluid biomarkers in people with sleep-wake disturbances to date include those directly associated with neurodegeneration itself, such as neurofilament light chain, phosphorylated tau, amyloid-beta and alpha-synuclein. Abnormalities in these biomarkers in patients with sleep-wake disturbances …
Unveiling The Link Between Systemic Inflammation Markers And Cognitive Performance Among Older Adults In The Us: A Population-Based Study Using Nhanes 2011–2014 Data, Zheng Guo, Yulu Zheng, Jian Geng, Zhiyuan Wu, Tao Wei, Guangle Shan, Yahong Zhu, Yuanyuan Zheng, Xingang Li
Unveiling The Link Between Systemic Inflammation Markers And Cognitive Performance Among Older Adults In The Us: A Population-Based Study Using Nhanes 2011–2014 Data, Zheng Guo, Yulu Zheng, Jian Geng, Zhiyuan Wu, Tao Wei, Guangle Shan, Yahong Zhu, Yuanyuan Zheng, Xingang Li
Research outputs 2022 to 2026
Purpose: This study aimed to evaluate the association between systemic inflammation markers and cognitive performance among older US adults. Methods: This cross-sectional study assessed 3,632 older participants from the 2011–2014 National Health and Nutrition Examination Survey (NHANES). The main analysis included participants aged over 60 years. Systemic inflammation markers were quantified by calculating the composite inflammation indicators from the blood routine count, and cognitive performance was assessed using Consortium to Establish a Registry for Alzheimer's Disease (CERAD) test, Animal Fluency test (AFT), and Digit Symbol Substitution test (DSST). Results: There were 2,743 individuals enrolled in the current analysis. The overall …
Editorial: Neurotoxins In Alzheimer's Disease And Other Dementias, Alexandre Henriques, Philippe L. L. Poindron, Binosha Fernando, Kevin N. Hascup
Editorial: Neurotoxins In Alzheimer's Disease And Other Dementias, Alexandre Henriques, Philippe L. L. Poindron, Binosha Fernando, Kevin N. Hascup
Research outputs 2022 to 2026
Alzheimer's disease (AD) and other dementias are neurodegenerative disorders characterized by a progressive decline in cognition and independence from activities of daily living. Dementia is multifactorial with numerous risk factors including age, genes, molecules, lifestyle, and environmental contributions to disease onset and progression. In recent years, an emerging focus on neurotoxins has added a new layer of complexity to our understanding of dementia. This editorial aims to discuss recent updates regarding the role of neurotoxins in the pathogenesis of dementia.
Neuropsychiatric Symptoms Of Dementia In Those With And Without A Recorded History Of Psychological Trauma: A Comparative Study From An Australian Dementia Support Service, Monica Cations, Mustafa Atee, Thomas Morris, Daniel Whiting
Neuropsychiatric Symptoms Of Dementia In Those With And Without A Recorded History Of Psychological Trauma: A Comparative Study From An Australian Dementia Support Service, Monica Cations, Mustafa Atee, Thomas Morris, Daniel Whiting
Research outputs 2022 to 2026
Objective: To compare the number and severity of neuropsychiatric symptoms (NPS) and associated caregiver distress between those with and without a noted history of psychological trauma among those referred to a specialised national dementia NPS support service. Methods: This was a 5-year retrospective observational study of records from the Dementia Support Australia NPS support service. NPS were reported by formal or informal caregivers at service entry using the Neuropsychiatric Inventory Nursing Home version or Questionnaire version. A history of psychological trauma was recorded in the person's social or medical history and/or endorsed as a contributor to NPS by a trained …
A Systematic Review Of Dementia Research Priorities, Manonita Ghosh, Pelden Chejor, Melanie Baker, Davina Porock
A Systematic Review Of Dementia Research Priorities, Manonita Ghosh, Pelden Chejor, Melanie Baker, Davina Porock
Research outputs 2022 to 2026
Introduction: Patient involvement is a critical component of dementia research priority-setting exercises to ensure that research benefits are relevant and acceptable to those who need the most. This systematic review synthesises research priorities and preferences identified by people living with dementia and their caregivers. Methods: Guided by Joanna Briggs Institute methodology, and Preferred Reporting Items for Systematic Reviews and Meta-Analyses framework, we conducted a systematic search in five electronic databases: CINAHL, Medline, PsycINFO, Web of Science and Scopus. The reference lists of the included studies were also manually searched. We combined quantitative and qualitative data for synthesis and descriptive thematic …
Fluid Biomarkers In Cerebral Amyloid Angiopathy, Seyed M. Savar, Bin Ma, Eugene Hone, Farzana Jahan, Shaun Markovic, Steve Pedrini, Soudabeh Shemehsavar, Vandhana Easwaran, Kevin Taddei, Samantha Gardener, Jasmeer P. Chhatwal, Ellis S. Van Etten, Matthias J. P. Van Osch, Daniel Clarke, Anastazija Gnjec, Mark A. Van Buchem, Marieke J. H. Wermer, Graeme J. Hankey, Steven M. Greenberg, Ralph N. Martins, Hamid R. Sohrabi
Fluid Biomarkers In Cerebral Amyloid Angiopathy, Seyed M. Savar, Bin Ma, Eugene Hone, Farzana Jahan, Shaun Markovic, Steve Pedrini, Soudabeh Shemehsavar, Vandhana Easwaran, Kevin Taddei, Samantha Gardener, Jasmeer P. Chhatwal, Ellis S. Van Etten, Matthias J. P. Van Osch, Daniel Clarke, Anastazija Gnjec, Mark A. Van Buchem, Marieke J. H. Wermer, Graeme J. Hankey, Steven M. Greenberg, Ralph N. Martins, Hamid R. Sohrabi
Research outputs 2022 to 2026
Cerebral amyloid angiopathy (CAA) is a type of cerebrovascular disorder characterised by the accumulation of amyloid within the leptomeninges and small/medium-sized cerebral blood vessels. Typically, cerebral haemorrhages are one of the first clinical manifestations of CAA, posing a considerable challenge to the timely diagnosis of CAA as the bleedings only occur during the later disease stages. Fluid biomarkers may change prior to imaging biomarkers, and therefore, they could be the future of CAA diagnosis. Additionally, they can be used as primary outcome markers in prospective clinical trials. Among fluid biomarkers, blood-based biomarkers offer a distinct advantage over cerebrospinal fluid biomarkers …
Midline Brain Structures In Adult Niemann-Pick Type C Disease: A Cross-Sectional Study, Mark Walterfang, Tsutomu Takahashi, Maria A. Di Biase, Vanessa L. Cropley, Daiki Sasabayashi, Michio Suzuki, Dennis Velakoulis, Christos Pantelis
Midline Brain Structures In Adult Niemann-Pick Type C Disease: A Cross-Sectional Study, Mark Walterfang, Tsutomu Takahashi, Maria A. Di Biase, Vanessa L. Cropley, Daiki Sasabayashi, Michio Suzuki, Dennis Velakoulis, Christos Pantelis
Research outputs 2022 to 2026
Objective: A range of neuropathological changes occur in the brains of individuals with adult Niemann-Pick type C disease (NPC), a recessive disorder of cholesterol trafficking that results in accumulation of cholesterol and gangliosides in lysosomes, particularly in neurons. One of the most significant regions of grey matter loss occurs in the thalami, which abut the midline. What is not known is whether these are neurodevelopmental in origin well prior to symptomatic onset. We aimed to examine other markers of midline developmental anomalies in adults with NPC. Method: We examined the size of adhesio interthalamica (AI) and cavum septum pellucidum (CSP) …
Changes In Sleep Effort Mediate Insomnia Severity In Older Adults Following Online Cognitive Behavioural Therapy, Yvonne Kutzer, Lisa Whitehead, Eimear Quigley, Mandy Stanley
Changes In Sleep Effort Mediate Insomnia Severity In Older Adults Following Online Cognitive Behavioural Therapy, Yvonne Kutzer, Lisa Whitehead, Eimear Quigley, Mandy Stanley
Research outputs 2022 to 2026
Background
To examine treatment mechanisms of digitally delivered cognitive behavioural therapy for insomnia (CBT-I), this study assessed the mediating effects of dysfunctional beliefs, hyperarousal, locus of control, self-efficacy, sleep effort, and safety behaviours on self-reported insomnia severity in older adults before and following the completion of a self-guided, online CBT-I program.
Methods
The baseline and follow-up measurements were completed by 62 older adults (55 female, 89%). This was a two-condition within-participant design. Mediation analysis using a parallel mediation model was conducted using the MEMORE macro for repeated measure designs.
Results
Out of all the included mediator variables, only a reduction …
Application Of Genomics And Epigenetics In Disease And Syndrome Classification, Yanqi Dang, Wei Wang, Aiping Lyu, Lisheng Wang, Guang Ji
Application Of Genomics And Epigenetics In Disease And Syndrome Classification, Yanqi Dang, Wei Wang, Aiping Lyu, Lisheng Wang, Guang Ji
Research outputs 2022 to 2026
No abstract provided.
Glycan Clock Of Ageing—Analytical Precision And Time-Dependent Inter- And I-Individual Variability, Borna Rapčan, Manshu Song, Azra Frkatović-Hodžić, Tea Pribić, Jakov Vuk, Anđelo Beletić, Maja Hanić, Julija Jurić, Petra Tominac, Josip Milas, Vedrana Ivić, Sven Viland, Sara Bonet, Branko Šego, Marija Heffer, Wei Wang, Michael P. Snyder, Gordan Lauc
Glycan Clock Of Ageing—Analytical Precision And Time-Dependent Inter- And I-Individual Variability, Borna Rapčan, Manshu Song, Azra Frkatović-Hodžić, Tea Pribić, Jakov Vuk, Anđelo Beletić, Maja Hanić, Julija Jurić, Petra Tominac, Josip Milas, Vedrana Ivić, Sven Viland, Sara Bonet, Branko Šego, Marija Heffer, Wei Wang, Michael P. Snyder, Gordan Lauc
Research outputs 2022 to 2026
Ageing is a complex biological process with variations among individuals, leading to the development of ageing clocks to estimate biological age. Glycans, particularly in immunoglobulin G (IgG), have emerged as potential biomarkers of ageing, with changes in glycosylation patterns correlating with chronological age. For precision analysis, three different plasma pools were analysed over 26 days in tetraplicates, 312 samples in total. In short-term variability analysis, two cohorts were analysed: AstraZeneca MFO cohort of 26 healthy individuals (median age 20) and a cohort of 70 premenopausal Chinese women (median age 22.5) cohort monitored over 3 months. Long-term variability analysis involved two …
A Comprehensive Multi-Omics Analysis Reveals Unique Signatures To Predict Alzheimer’S Disease, Michael Vacher, Rodrigo Canovas, Simon M. Laws, James D. Doecke
A Comprehensive Multi-Omics Analysis Reveals Unique Signatures To Predict Alzheimer’S Disease, Michael Vacher, Rodrigo Canovas, Simon M. Laws, James D. Doecke
Research outputs 2022 to 2026
Background: Complex disorders, such as Alzheimer’s disease (AD), result from the combined influence of multiple biological and environmental factors. The integration of high-throughput data from multiple omics platforms can provide system overviews, improving our understanding of complex biological processes underlying human disease. In this study, integrated data from four omics platforms were used to characterise biological signatures of AD. Method: The study cohort consists of 455 participants (Control:148, Cases:307) from the Religious Orders Study and Memory and Aging Project (ROSMAP). Genotype (SNP), methylation (CpG), RNA and proteomics data were collected, quality-controlled and pre-processed (SNP = 130; CpG = 83; RNA …
Resting Heart Rate And Risk Of Dementia: A Mendelian Randomization Study In The International Genomics Of Alzheimer’S Project And Uk Biobank, Xingxing Chen, Yi Zheng, Jun Wang, Blake Yue, Xian Zhang, Kenta Nakai, Lijing L. Yan
Resting Heart Rate And Risk Of Dementia: A Mendelian Randomization Study In The International Genomics Of Alzheimer’S Project And Uk Biobank, Xingxing Chen, Yi Zheng, Jun Wang, Blake Yue, Xian Zhang, Kenta Nakai, Lijing L. Yan
Research outputs 2022 to 2026
Background: Observational studies have demonstrated that a higher resting heart rate (RHR) is associated with an increased risk of dementia. However, it is not clear whether the association is causal. This study aimed to determine the causal effects of higher genetically predicted RHR on the risk of dementia. Methods: We performed a two-sample Mendelian randomization analysis to investigate the causal effect of higher genetically predicted RHR on Alzheimer’s disease (AD) using summary statistics from genome-wide association studies. The generalized summary Mendelian randomization (GSMR) analysis was used to analyze the corresponding effects of RHR on following different outcomes: 1) diagnosis of …
Role Of Short Chain Fatty Acids On Astrocytes And Microglia In Alzheimer's Disease Brain, Rathnayaka Mudiyanselage Uththara Sachinthanie Senarath, Matthew Burton, Welisarage Mary Kendrea Thiasangee Fernando, Vijay Jayasena, Charles Brennan, Wanakulasuriya Mary Ann Dipika Binosha Fernando
Role Of Short Chain Fatty Acids On Astrocytes And Microglia In Alzheimer's Disease Brain, Rathnayaka Mudiyanselage Uththara Sachinthanie Senarath, Matthew Burton, Welisarage Mary Kendrea Thiasangee Fernando, Vijay Jayasena, Charles Brennan, Wanakulasuriya Mary Ann Dipika Binosha Fernando
Research outputs 2022 to 2026
Short-chain fatty acids (SCFAs) hold exert many nutritional benefits on both physiological and pathological processes, including host metabolism, immune modulation, and appetite control. Originating from the microbial fermentation of resistant starches and dietary fibre in the colon, SCFAs have the capability to traverse the blood–brain barrier (BBB). It is evident that SCFAs play a critical role in the development of neurodegenerative disorders such as Alzheimer's disease (AD). AD is the most common form of dementia and is characterised by the deposition of amyloid β peptides (Aβ) and tau hyperphosphorylation. SCFAs have demonstrated the potential to interfere with the protein–protein interactions …
Exploration Of Alzheimer's Disease-Related Gene Expression Following High-Intensity And Moderate-Intensity Exercise Interventions, Kieran J. Marston, Jaisalmer De Frutos-Lucas, Tenielle Porter, Lidija Milicic, Michael Vacher, Kelsey R. Sewell, Jeremiah J. Peiffer, Simon M. Laws, Belinda M. Brown
Exploration Of Alzheimer's Disease-Related Gene Expression Following High-Intensity And Moderate-Intensity Exercise Interventions, Kieran J. Marston, Jaisalmer De Frutos-Lucas, Tenielle Porter, Lidija Milicic, Michael Vacher, Kelsey R. Sewell, Jeremiah J. Peiffer, Simon M. Laws, Belinda M. Brown
Research outputs 2022 to 2026
Objectives: There are currently 29 genome regions that demonstrate associations with Alzheimer's disease (AD) risk. Regular physical exercise can promote systemic change in gene expression and may modify the risk of cognitive decline and AD. This study is a secondary analysis of a randomised controlled trial and examines the effect of a six-month exercise intervention versus control on AD-related gene expression. Design: Single-site parallel pilot randomised controlled trial. Methods: 91 cognitively unimpaired older adults were enrolled in the Intense Physical Activity and Cognition (IPAC) study. Participants were randomised into one of three groups: high-intensity exercise, moderate-intensity exercise, or inactive control …
Alzheimer's Disease Genetic Risk And Changes In Brain Atrophy And White Matter Hyperintensities In Cognitively Unimpaired Adults, Anja Soldan, Jiangxia Wang, Corinne Pettigrew, Christos Davatzikos, Guray Erus, Timothy J. Hohman, Logan Dumitrescu, Murat Bilgel, Susan M. Resnick, Leonardo A. Rivera-Rivera, Rebecca Langhough, Sterling C. Johnson, Tammie Benzinger, John C. Morris, Simon M. Laws, Jurgen Fripp, Colin L. Masters, Marilyn S. Albert
Alzheimer's Disease Genetic Risk And Changes In Brain Atrophy And White Matter Hyperintensities In Cognitively Unimpaired Adults, Anja Soldan, Jiangxia Wang, Corinne Pettigrew, Christos Davatzikos, Guray Erus, Timothy J. Hohman, Logan Dumitrescu, Murat Bilgel, Susan M. Resnick, Leonardo A. Rivera-Rivera, Rebecca Langhough, Sterling C. Johnson, Tammie Benzinger, John C. Morris, Simon M. Laws, Jurgen Fripp, Colin L. Masters, Marilyn S. Albert
Research outputs 2022 to 2026
Reduced brain volumes and more prominent white matter hyperintensities on MRI scans are commonly observed among older adults without cognitive impairment. However, it remains unclear whether rates of change in these measures among cognitively normal adults differ as a function of genetic risk for late-onset Alzheimer's disease, including APOE- ε4, APOE-ε2 and Alzheimer's disease polygenic risk scores (AD-PRS), and whether these relationships are influenced by other variables. This longitudinal study examined the trajectories of regional brain volumes and white matter hyperintensities in relationship to APOE genotypes (N = 1541) and AD-PRS (N = 1093) in a harmonized dataset of middle-aged …
Multi-Domain Interventions For Dementia Prevention–A Systematic Review, C. B. Castro, L. M. Costa, C. Max B. Dias, J. Chen, H. Hillebrandt, Samantha L. Gardener, B. M. Brown, R. L. Loo, M. L. Garg, Stephanie R. Rainey-Smith, Ralph N. Martins, Hamid R. Sohrabi
Multi-Domain Interventions For Dementia Prevention–A Systematic Review, C. B. Castro, L. M. Costa, C. Max B. Dias, J. Chen, H. Hillebrandt, Samantha L. Gardener, B. M. Brown, R. L. Loo, M. L. Garg, Stephanie R. Rainey-Smith, Ralph N. Martins, Hamid R. Sohrabi
Research outputs 2022 to 2026
Objectives: There is a growing incidence of cognitive decline and dementia associated with the ageing population. Lifestyle factors such as diet, physical activity, and cognitive activities may individually or collectively be undertaken to increase one’s odds of preventing cognitive decline and future dementia. This study will examine whether clinical trials using multidomain lifestyle intervention can significantly decrease the risk of cognitive decline and therefore dementia. Design, Setting and Participants: This systematic literature review of multidomain lifestyle interventions for the prevention of cognitive decline and dementia followed the PRISMA guidelines. Clinical trials involving multidomain intervention (i.e., diet and physical activity, or …
A Two-Sample Mendelian Randomization Study Of Atherosclerosis And Dementia, Qiaoyun Zhang, Guangheng Wu, Xiaoyu Zhang, Sheng Wang, Youxin Wang
A Two-Sample Mendelian Randomization Study Of Atherosclerosis And Dementia, Qiaoyun Zhang, Guangheng Wu, Xiaoyu Zhang, Sheng Wang, Youxin Wang
Research outputs 2022 to 2026
The causality between atherosclerosis and dementia remains unclear. This study aimed to explore the causal effect of atherosclerosis related indicators on dementia risk based on two-sample Mendelian randomization (MR) using summary statistics of genome-wide association studies (GWASs). The inverse variance weighted (IVW) method was performed as the main analysis, supplemented by different sensitivity analyses. Suggestive evidence indicated that peripheral arterial disease (PAD) (odds ratio (OR): 0.864, 95% confidence interval (CI): 0.797–0.937), coronary atherosclerosis (CoAS) (OR: 0.927, 95% CI: 0.860–0.998) and atherosclerosis, excluding cerebral, coronary, and PAD (ATHSCLE) (OR: 0.812, 95% CI: 0.725–0.909) were inversely associated with the risk of AD. …
Effects Of Jaw Clenching And Mental Stress On Persistent Inward Currents Estimated By Two Different Methods, Ricardo N. O. Mesquita, Janet L. Taylor, Gabriel S. Trajano, Aleš Holobar, Basílio A. M. Gonçalves, Anthony J. Blazevich
Effects Of Jaw Clenching And Mental Stress On Persistent Inward Currents Estimated By Two Different Methods, Ricardo N. O. Mesquita, Janet L. Taylor, Gabriel S. Trajano, Aleš Holobar, Basílio A. M. Gonçalves, Anthony J. Blazevich
Research outputs 2022 to 2026
Spinal motoneuron firing depends greatly on persistent inward currents (PICs), which in turn are facilitated by the neuromodulators serotonin and noradrenaline. The aim of this study was to determine whether jaw clenching (JC) and mental stress (MS), which may increase neuromodulator release, facilitate PICs in human motoneurons. The paired motor unit (MU) technique was used to estimate PIC contribution to motoneuron firing. Surface electromyograms were collected using a 32-channel matrix on gastrocnemius medialis (GM) during voluntary, ramp, plantar flexor contractions. MU discharges were identified, and delta frequency ( F), a measure of recruitment–derecruitment hysteresis, was calculated. Additionally, another technique was …
Chromosomal Aberrations In Pediatric Patients With Moderate/Severe Developmental Delay/Intellectual Disability With Abundant Phenotypic Heterogeneities: A Single-Center Study, Dan Wu, Yi Wu, Yulong Lan, Shaocong Lan, Zhiwei Zhong, Duo Li, Zexin Zheng, Hongwu Wang, Lian Ma
Chromosomal Aberrations In Pediatric Patients With Moderate/Severe Developmental Delay/Intellectual Disability With Abundant Phenotypic Heterogeneities: A Single-Center Study, Dan Wu, Yi Wu, Yulong Lan, Shaocong Lan, Zhiwei Zhong, Duo Li, Zexin Zheng, Hongwu Wang, Lian Ma
Research outputs 2022 to 2026
Background: This study aimed to examine the clinical usefulness of chromosome microarray (CMA) for selective implementation in patients with unexplained moderate or severe developmental delay/intellectual disability (DD/ID) and/or combined with different dysphonic features in the Han Chinese population. Methods: We retrospectively analyzed data on 122 pediatric patients with unexplained isolated moderate/severe DD/ID with or without autism spectrum disorders, epilepsy, dystonia, and congenital abnormalities from a single-center neurorehabilitation clinic in southern China. Results: A total of 46 probands (37.7%) had abnormal CMA results among the 122 study patients. With the exclusion of aneuploidies, uniparental disomies, and multiple homozygotes, 37 patients harbored …
The Influence Of Baseline Sleep On Exercise-Induced Cognitive Change In Cognitively Unimpaired Older Adults: A Randomised Clinical Trial, Kelsey R. Sewell, Stephanie R. Rainey-Smith, Jeremiah Peiffer, Hamid R. Sohrabi, James Doecke, Natalie J. Frost, Shaun J. Markovic, Kirk Erickson, Belinda M. Brown
The Influence Of Baseline Sleep On Exercise-Induced Cognitive Change In Cognitively Unimpaired Older Adults: A Randomised Clinical Trial, Kelsey R. Sewell, Stephanie R. Rainey-Smith, Jeremiah Peiffer, Hamid R. Sohrabi, James Doecke, Natalie J. Frost, Shaun J. Markovic, Kirk Erickson, Belinda M. Brown
Research outputs 2022 to 2026
Objectives: Observational studies consistently demonstrate that physical activity is associated with elevated cognitive function, however, there remains significant heterogeneity in cognitive outcomes from randomized exercise interventions. Individual variation in sleep behaviours may be a source of variability in the effectiveness of exercise-induced cognitive change, however this has not yet been investigated. The current study aimed to (1) investigate the influence of a 6-month exercise intervention on sleep, assessed pre- and post-intervention and, (2) investigate whether baseline sleep measures moderate exercise-induced cognitive changes. Methods: We utilised data from the Intense Physical Activity and Cognition (IPAC) study (n = 89), a 6-month …
Contrast Detection Is Enhanced By Deterministic, High-Frequency Transcranial Alternating Current Stimulation With Triangle And Sine Waveform, Weronika Potok, Onno Van Der Groen, Sahana Sivachelvam, Marc Bächinger, Flavio Fröhlich, Laszlo B. Kish, Nicole Wenderoth
Contrast Detection Is Enhanced By Deterministic, High-Frequency Transcranial Alternating Current Stimulation With Triangle And Sine Waveform, Weronika Potok, Onno Van Der Groen, Sahana Sivachelvam, Marc Bächinger, Flavio Fröhlich, Laszlo B. Kish, Nicole Wenderoth
Research outputs 2022 to 2026
Stochastic resonance (SR) describes a phenomenon where an additive noise (stochastic carrier-wave) enhances the signal transmission in a nonlinear system. In the nervous system, nonlinear properties are present from the level of single ion channels all the way to perception and appear to support the emergence of SR. For example, SR has been repeatedly demonstrated for visual detection tasks, also by adding noise directly to cortical areas via transcranial random noise stimulation (tRNS). When dealing with nonlinear physical systems, it has been suggested that resonance can be induced not only by adding stochastic signals (i.e., noise) but also by adding …
Positron Emission Tomography And Magnetic Resonance Imaging Methods And Datasets Within The Dominantly Inherited Alzheimer Network (Dian), Nicole S. Mckay, Brian A. Gordon, Russ C. Hornbeck, Aylin Dincer, Shaney Flores, Sarah J. Keefe, Nelly Joseph-Mathurin, Clifford R. Jack, Robert Koeppe, Peter R. Millar, Beau M. Ances, Charles D. Chen, Alisha Daniels, Diana A. Hobbs, Kelley Jackson, Deborah Koudelis, Parinaz Massoumzadeh, Austin Mccullough, Michael L. Nickels, Farzaneh Rahmani, Laura Swisher, Qing Wang, Ricardo F. Allegri, Sarah B. Berman, Adam M. Brickman, William S. Brooks, David M. Cash, Jasmeer P. Chhatwal, Gregory S. Day, Martin R. Farlow, Christian La Fougère, Nick C. Fox, Michael Fulham, Bernardino Ghetti, Neill Graff-Radford, Takeshi Ikeuchi, William Klunk, Jae-Hong Lee, Johannes Levin, Ralph Martins, Colin L. Masters, Jonathan Mcconathy, Hiroshi Mori, James M. Noble, Gerald Reischl, Christopher Rowe, Stephen Salloway, Raquel Sanchez-Valle, Peter R. Schofield, Hiroyuki Shimada, Mikio Shoji, Yi Su, Kazushi Suzuki, Jonathan Vöglein, Igor Yakushev, Carlos Cruchaga, Jason Hassenstab, Celeste Karch, Eric Mcdade, Richard J. Perrin, Chengjie Xiong, John C. Morris, Randall J. Bateman, Tammie L. S. Benzinger, Dominantly Inherited Alzheimer Network
Positron Emission Tomography And Magnetic Resonance Imaging Methods And Datasets Within The Dominantly Inherited Alzheimer Network (Dian), Nicole S. Mckay, Brian A. Gordon, Russ C. Hornbeck, Aylin Dincer, Shaney Flores, Sarah J. Keefe, Nelly Joseph-Mathurin, Clifford R. Jack, Robert Koeppe, Peter R. Millar, Beau M. Ances, Charles D. Chen, Alisha Daniels, Diana A. Hobbs, Kelley Jackson, Deborah Koudelis, Parinaz Massoumzadeh, Austin Mccullough, Michael L. Nickels, Farzaneh Rahmani, Laura Swisher, Qing Wang, Ricardo F. Allegri, Sarah B. Berman, Adam M. Brickman, William S. Brooks, David M. Cash, Jasmeer P. Chhatwal, Gregory S. Day, Martin R. Farlow, Christian La Fougère, Nick C. Fox, Michael Fulham, Bernardino Ghetti, Neill Graff-Radford, Takeshi Ikeuchi, William Klunk, Jae-Hong Lee, Johannes Levin, Ralph Martins, Colin L. Masters, Jonathan Mcconathy, Hiroshi Mori, James M. Noble, Gerald Reischl, Christopher Rowe, Stephen Salloway, Raquel Sanchez-Valle, Peter R. Schofield, Hiroyuki Shimada, Mikio Shoji, Yi Su, Kazushi Suzuki, Jonathan Vöglein, Igor Yakushev, Carlos Cruchaga, Jason Hassenstab, Celeste Karch, Eric Mcdade, Richard J. Perrin, Chengjie Xiong, John C. Morris, Randall J. Bateman, Tammie L. S. Benzinger, Dominantly Inherited Alzheimer Network
Research outputs 2022 to 2026
The Dominantly Inherited Alzheimer Network (DIAN) is an international collaboration studying autosomal dominant Alzheimer disease (ADAD). ADAD arises from mutations occurring in three genes. Offspring from ADAD families have a 50% chance of inheriting their familial mutation, so non-carrier siblings can be recruited for comparisons in case–control studies. The age of onset in ADAD is highly predictable within families, allowing researchers to estimate an individual’s point in the disease trajectory. These characteristics allow candidate AD biomarker measurements to be reliably mapped during the preclinical phase. Although ADAD represents a small proportion of AD cases, understanding neuroimaging-based changes that occur during …
Plasma Glial Fibrillary Acidic Protein In Autosomal Dominant Alzheimer's Disease: Associations With Aβ-Pet, Neurodegeneration, And Cognition, Pratishtha Chatterjee, Lisa Vermunt, Brian A. Gordon, Steve Pedrini, Lynn Boonkamp, Nicola J. Armstrong, Chengjie Xiong, Abhay K. Singh, Yan Li, Hamid R. Sohrabi, Kevin Taddei, Mark Molloy, Tammie L. S. Benzinger, John C. Morris, Celeste Karch, Sarah Berman, Jasmeer Chhatwal, Carlos Cruchaga, Neill R. Graff-Radford, Gregory S. Day, Martin Farlow, Nick Fox, Alison Goate, Jason Hassenstab, Jae-Hong Lee, Johannes Levin, Eric Mcdade, Hiroshi Mori, Richard Perrin, Raquel Sanchez-Valle, Peter R. Schofield, Allan Levey, Mathias Jucker, Colin L. Masters, Anne M. Fagan, Randall J. Bateman, Ralph N. Martins, Charlotte Teunissen, Dominantly Inherited Alzheimer Network
Plasma Glial Fibrillary Acidic Protein In Autosomal Dominant Alzheimer's Disease: Associations With Aβ-Pet, Neurodegeneration, And Cognition, Pratishtha Chatterjee, Lisa Vermunt, Brian A. Gordon, Steve Pedrini, Lynn Boonkamp, Nicola J. Armstrong, Chengjie Xiong, Abhay K. Singh, Yan Li, Hamid R. Sohrabi, Kevin Taddei, Mark Molloy, Tammie L. S. Benzinger, John C. Morris, Celeste Karch, Sarah Berman, Jasmeer Chhatwal, Carlos Cruchaga, Neill R. Graff-Radford, Gregory S. Day, Martin Farlow, Nick Fox, Alison Goate, Jason Hassenstab, Jae-Hong Lee, Johannes Levin, Eric Mcdade, Hiroshi Mori, Richard Perrin, Raquel Sanchez-Valle, Peter R. Schofield, Allan Levey, Mathias Jucker, Colin L. Masters, Anne M. Fagan, Randall J. Bateman, Ralph N. Martins, Charlotte Teunissen, Dominantly Inherited Alzheimer Network
Research outputs 2022 to 2026
Background: Glial fibrillary acidic protein (GFAP) is a promising candidate blood-based biomarker for Alzheimer's disease (AD) diagnosis and prognostication. The timing of its disease-associated changes, its clinical correlates, and biofluid-type dependency will influence its clinical utility. Methods: We evaluated plasma, serum, and cerebrospinal fluid (CSF) GFAP in families with autosomal dominant AD (ADAD), leveraging the predictable age at symptom onset to determine changes by stage of disease. Results: Plasma GFAP elevations appear a decade before expected symptom onset, after amyloid beta (A ) accumulation and prior to neurodegeneration and cognitive decline. Plasma GFAP distinguished A -positive from A -negative ADAD …
Can Local Vibration Alter The Contribution Of Persistent Inward Currents To Human Motoneuron Firing?, T. Lapole, Ricardo N. O. Mesquita, S. Baudry, R. Souron, C. G. Brownstein, V. Rozand
Can Local Vibration Alter The Contribution Of Persistent Inward Currents To Human Motoneuron Firing?, T. Lapole, Ricardo N. O. Mesquita, S. Baudry, R. Souron, C. G. Brownstein, V. Rozand
Research outputs 2022 to 2026
The response of spinal motoneurons to synaptic input greatly depends on the activation of persistent inward currents (PICs), which in turn are enhanced by the neuromodulators serotonin and noradrenaline. Local vibration (LV) induces excitatory Ia input onto motoneurons and may alter neuromodulatory inputs. Therefore, we investigated whether LV influences the contribution of PICs to motoneuron firing. This was assessed in voluntary contractions with concurrent, ongoing LV, as well as after a bout of prolonged LV. High-density surface electromyograms (HD-EMG) of the tibialis anterior were recorded with a 64-electrode matrix. Twenty males performed isometric, triangular, dorsiflexion contractions to 20% and 50% …
Prevalence And Management Of Sleep Disturbance In Adults With Primary Brain Tumours And Their Caregivers: A Systematic Review, Jason A. Martin, Nicolas H. Hart, Natalie Bradford, Fiona Naumann, Mark B. Pinkham, Elizabeth P. Pinkham, Justin J. Holland
Prevalence And Management Of Sleep Disturbance In Adults With Primary Brain Tumours And Their Caregivers: A Systematic Review, Jason A. Martin, Nicolas H. Hart, Natalie Bradford, Fiona Naumann, Mark B. Pinkham, Elizabeth P. Pinkham, Justin J. Holland
Research outputs 2022 to 2026
Purpose: The aims of this systematic review were to (1) examine the prevalence, severity, manifestations, and clinical associations/risk factors of sleep disturbance in primary brain tumour (PBT) survivors and their caregivers; and (2) determine whether there are any sleep-focused interventons reported in the literature pertaining to people affected by PBT. Methods: This systematic review was registered with the international register for systematic reviews (PROSPERO: CRD42022299332). PubMed, EMBASE, Scopus, PsychINFO, and CINAHL were electronically searched for relevant articles reporting sleep disturbance and/or interventions for managing sleep disturbance published between September 2015 and May 2022. The search strategy included terms focusing on …
Corticospinal And Intracortical Responses From Both Motor Cortices Following Unilateral Concentric Versus Eccentric Contractions, Onno Van Der Groen, Christopher Latella, Kazunori Nosaka, Dylan Edwards, Wei Peng Teo, Janet L. Taylor
Corticospinal And Intracortical Responses From Both Motor Cortices Following Unilateral Concentric Versus Eccentric Contractions, Onno Van Der Groen, Christopher Latella, Kazunori Nosaka, Dylan Edwards, Wei Peng Teo, Janet L. Taylor
Research outputs 2022 to 2026
Cross-education is the phenomenon where training of one limb can cause neuromuscular adaptations in the opposite untrained limb. This effect has been reported to be greater after eccentric (ECC) than concentric (CON) strength training; however, the underpinning neurophysiological mechanisms remain unclear. Thus, we compared responses to transcranial magnetic stimulation (TMS) in both motor cortices following single sessions of unilateral ECC and CON exercise of the elbow flexors. Fourteen healthy adults performed three sets of 10 ECC and CON right elbow flexor contractions at 75 % of respective maximum on separate days. Elbow flexor maximal voluntary isometric contraction (MVIC) torques were …
Episodic Memory Dysfunction And Hypersynchrony In Brain Functional Networks In Cognitively Intact Subjects And Mci: A Study Of 379 Individuals, Brenda Chino, Pablo Cuesta, Javier Pacios, Jaisalmer De Frutos-Lucas, Lucía Torres-Simón, Sandra Doval, Alberto Marcos, Ricardo Bruña, Fernando Maestú
Episodic Memory Dysfunction And Hypersynchrony In Brain Functional Networks In Cognitively Intact Subjects And Mci: A Study Of 379 Individuals, Brenda Chino, Pablo Cuesta, Javier Pacios, Jaisalmer De Frutos-Lucas, Lucía Torres-Simón, Sandra Doval, Alberto Marcos, Ricardo Bruña, Fernando Maestú
Research outputs 2022 to 2026
Delayed recall (DR) impairment is one of the most significant predictive factors in defining the progression to Alzheimer’s disease (AD). Changes in brain functional connectivity (FC) could accompany this decline in the DR performance even in a resting state condition from the preclinical stages to the diagnosis of AD itself, so the characterization of the relationship between the two phenomena has attracted increasing interest. Another aspect to contemplate is the potential moderator role of the APOE genotype in this association, considering the evidence about their implication for the disease. 379 subjects (118 mild cognitive impairment (MCI) and 261 cognitively intact …
Motor Cortical Excitability And Pre-Supplementary Motor Area Neurochemistry In Healthy Adults With Substantia Nigra Hyperechogenicity, Gabrielle Todd, Caroline D. Rae, Janet L. Taylor, Nigel C. Rogasch, Jane E. Butler, Michael Hayes, Robert A. Wilcox, Simon C. Gandevia, Karl Aoun, Adrian Esterman, Simon J. G. Lewis, Julie M. Hall, Elie Matar, Jana Godau, Daniela Berg, Christian Plewnia, Anna-Katharina Von Thaler, Clarence Chiang, Kay L. Double
Motor Cortical Excitability And Pre-Supplementary Motor Area Neurochemistry In Healthy Adults With Substantia Nigra Hyperechogenicity, Gabrielle Todd, Caroline D. Rae, Janet L. Taylor, Nigel C. Rogasch, Jane E. Butler, Michael Hayes, Robert A. Wilcox, Simon C. Gandevia, Karl Aoun, Adrian Esterman, Simon J. G. Lewis, Julie M. Hall, Elie Matar, Jana Godau, Daniela Berg, Christian Plewnia, Anna-Katharina Von Thaler, Clarence Chiang, Kay L. Double
Research outputs 2022 to 2026
Substantia nigra (SN) hyperechogenicity, viewed with transcranial ultrasound, is a risk marker for Parkinson's disease. We hypothesized that SN hyperechogenicity in healthy adults aged 50 – 70 years is associated with reduced short-interval intracortical inhibition in primary motor cortex, and that the reduced intracortical inhibition is associated with neurochemical markers of activity in the pre-supplementary motor area (pre-SMA). Short-interval intracortical inhibition and intracortical facilitation in primary motor cortex was assessed with paired-pulse transcranial magnetic stimulation in 23 healthy adults with normal (n = 14; 61 ± 7 yrs) or abnormally enlarged (hyperechogenic; n = 9; 60 ± 6 yrs) area …