Diseases Commons^™

The Origins Project Biobank: A Collaborative Bio Resource For Investigating The Developmental Origins Of Health And Disease, Nina D’Vaz, Courtney Kidd, Sarah Miller, Minda Amin, Jacqueline A. Davis, Zenobia Talati, Desiree T. Silva, Susan L. Prescott

Research outputs 2022 to 2026

Early onset Non-Communicable Diseases (NCDs), including obesity, allergies, and mental ill-health in childhood, present a serious and increasing threat to lifelong health and longevity. The ORGINS Project (ORIGINS) addresses the urgent need for multidisciplinary efforts to understand the detrimental multisystem impacts of modern environments using well-curated large-scale longitudinal biological sample collections. ORGINS is a prospective community birth cohort aiming to enrol 10,000 pregnant people and follow each family until the children reach 5 years of age. A key objective is to generate a comprehensive biorepository on a sub-group of 4000 families invited to contribute blood, saliva, buccal cells, urine, stool, …

Experiences And Perspectives Of Children And Young People Living With Childhood-Onset Systemic Lupus Erythematosus—An Integrative Review, Julie Blamires, Mandie Foster, Sara Napier, Annette Dickinson

Research outputs 2022 to 2026

Childhood-onset systemic lupus erythematosus (cSLE) impacts the daily life of children and young people. This study aimed to describe the experiences and perspectives of children and young people living with cSLE. An integrative review guided by Whittemore and Knafl was conducted. Extant empirical research published in peer-reviewed journals from 2000 to 2021 on children’s self-reported experiences living with cSLE was identified from Scopus, CINAHL, Medline via PubMed, and PsycINFO via Ovid databases. Nineteen studies involving over 1400 participants were included. Four themes and fourteen sub-themes were identified: (1) challenging symptoms (disruptions to life and altered self, severity, fatigue, depression, and …

Sociodemographically Stratified Exploration Of Pancreatic Cancer Incidence In Younger Us Patients: Implication Of Cannabis Exposure As A Risk Factor, Albert S. Reece, Gary K. Hulse

Research outputs 2022 to 2026

Introduction. The aetiology for the recent increase in pancreatic cancer incidence (PCI) in the US is unknown. This paper provides an epidemiological investigation of the exponential increase in PCI in young people aged 15–34 years, particularly amongst females, with a focus on the exponential rise amongst African American females, and its relationship to substance use. Methods. National pancreatic cancer data from recent reports. Tobacco, alcohol and daily cannabis use data taken from the annual nationally representative National Survey of Drug Use and Health, response rate = 74%. Results. Amongst the 15–34-year-aged cohort, PCI was found to be significantly more common …

Causal Associations Of Air Pollution With Cardiovascular Disease And Respiratory Diseases Among Elder Diabetic Patients, Zhiwei Li, Shiyun Lv, Feng Lu, Moning Guo, Zhiyuan Wu, Yue Liu, Weiming Li, Mengmeng Liu, Siqi Yu, Yanshuang Jiang, Bo Gao, Xiaonan Wang, Xia Li, Wei Wang, Xiangtong Liu, Xiuhua Guo

Research outputs 2022 to 2026

Extensive researches have linked air pollutants with cardiovascular disease (CVD) and respiratory diseases (RD), however, there is limited evidence on causal effects of air pollutants on morbidity of CVD or RD with comorbidities, particularly diabetes mellitus in elder patients. We included hospital admissions for CVD or RD among elder ( ≥ 65 years) diabetic patients between 2014 and 2019 in Beijing. A time-stratified case-crossover design based on negative-control exposure was used to assess causal associations of short-term exposure to air pollutants with CVD and RD among diabetic patients with the maximum lag of 7 days. A random forest regression model …

Review Of Gynaecological Cancer Among Aboriginal And/Or Torres Strait Islander People In Australia, Aime Powell, Ami Morseu-Diop, Maya Morton Ninomiya, Uday Narayan Yadav, Emily Phillips, Devendra Raj Singh, Tamara Butler, Emma Allanson, Lisa J. Whop

Journal of the Australian Indigenous HealthInfoNet

Gynaecological cancers bear a significant burden on the health of Australians. Whilst Australia has made great strides in reducing the overall gynaecological cancer burden nationally, Aboriginal and/or Torres Strait Islander women continue to experience disproportionately high rates of gynaecological cancers.

This review focuses on the social, cultural, and historical contexts that contribute to inequitable gynaecological cancer rates among Aboriginal and/or Torres Strait Islander women. An in-depth discussion on cervical cancer, ovarian cancer, and uterine cancer are described; including the incidence, mortality, survival, and management of these diseases for Aboriginal and/or Torres Strait Islander women.

It highlights both the persistent barriers …

Reduced Peak Bone Mass In Young Adults With Low Motor Competence, Jocelyn Tan, Carrie Anne Ng, Nicolas H. Hart, Timo Rantalainen, Marc Sim, David Scott, Kun Zhu, Beth Hands, Paola Chivers

Research outputs 2022 to 2026

Although suboptimal bone health has been reported in children and adolescents with low motor competence (LMC), it is not known whether such deficits are present at the time of peak bone mass. We examined the impact of LMC on bone mineral density (BMD) in 1043 participants (484 females) from the Raine Cohort Study. Participants had motor competence assessed using the McCarron Assessment of Neuromuscular Development at 10, 14, and 17 years, and a whole-body dual-energy X-ray absorptiometry (DXA) scan at 20 years. Bone loading from physical activity was estimated from the International Physical Activity Questionnaire at the age of 17 …

First Presentation With Neuropsychiatric Symptoms In Autosomal Dominant Alzheimer's Disease: The Dominantly Inherited Alzheimer's Network Study, Antoinette O'Connor, Helen Rice, Josephine Barnes, Natalie S. Ryan, Kathy Y. Liu, Ricardo Francisco Allegri, Sarah Berman, John M. Ringman, Carlos Cruchaga, Martin R. Farlow, Jason Hassenstab, Jae-Hong Lee, Richard J. Perrin, Chengjie Xiong, Brian Gordon, Allan I. Levey, Alison Goate, Neil Graff-Radford, Johannes Levin, Mathias Jucker, Tammie Benzinger, Eric Mcdade, Hiroshi Mori, James M. Noble, Peter R. Schofield, Ralph N. Martins, Stephen Salloway, Jasmeer Chhatwal, John C. Morris, Randall Bateman, Rob Howard, Suzanne Reeves, Nick C. Fox

Research outputs 2022 to 2026

Behavioural changes and neuropsychiatric symptoms (NPS) commonly occur in Alzheimer’s disease (AD) but may not be recognised as AD-related when they are the presenting feature. NPS are important as they are associated with greater functional impairment, poorer quality of life, accelerated cognitive decline and worsened caregiver burden.1 Autosomal dominant AD (ADAD), although < 1% of total AD cases, provides a valuable opportunity to study the clinical heterogeneity of AD. The young age at onset reduces the prevalence of age-related comorbid pathologies and the near 100% penetrance of pathogenic mutations reduces the likelihood of misdiagnosis.2 Anxiety and depression commonly occur in ADAD family members, with increased levels of depression having been found among predementia female mutation carriers.3 Subsequent studies, however, have shown that anxiety and/or depression are common regardless of mutation status, occurring in almost one in three at-risk individuals, with one study reporting a higher rate of depression in non-carriers (17%) than asymptomatic carriers (5%).4 5 Despite the high frequency of NPS in ADAD families, relatively little is known about the proportion of ADAD cases who present with predominantly behavioural symptoms. Our aims were to assess the first reported clinical change in symptomatic ADAD, to compare presentations across genotypes, and to compare cognitive performance between behavioural and cognitive-led presentations.

Distinct Hyperuricemia Trajectories Are Associated With Different Risks Of Incident Diabetes: A Prospective Cohort Study, Jia Liu, Huiying Pan, Yue Liu, Mengying Guan, Xia Li, Shuo Chen, Xingyao Tong, Yanxia Luo, Xiaonan Wang, Xinghua Yang, Xiuhua Guo, Jingbo Zhang, Lixin Tao

Research outputs 2022 to 2026

Background and aim: Conflicting results suggest a link between serum uric acid and diabetes and previous studies ignored the effect of continuous exposure of serum uric acid on diabetes risk. This study aims to characterize hyperuricemia trajectories in middle-aged adults and to examine its potential impact on diabetes risk, considering the role of obesity, dyslipidemia, and hypertension. Methods and results: The cohort included 9192 participants who were free of diabetes before 2013. The hyperuricemia trajectories during 2009–2013 were identified by latent class growth models. Incident diabetes during 2014–2018 was used as the outcome. Modified Poisson regression models were used to …

Cardiovascular Disease, Muscle Function, And Long-Term Falls Risk: The Perth Longitudinal Study Of Ageing Women, Abadi K. Gebre, Marc Sim, Jack Dalla Via, Alexander J. Rodríguez, Kun Zhu, John T. Schousboe, Jonathan M. Hodgson, Catherine P. Bondonno, Richard L. Prince, Joshua R. Lewis

Research outputs 2022 to 2026

Background: A few cross-sectional studies have highlighted inconsistent associations between cardiovascular disease (CVD) and musculoskeletal conditions. We sought to investigate the relationship between clinical CVD including subtypes, compromised muscle function, as well as incident self-reported and injurious falls in older women. Materials and methods: 1431 community-dwelling older women (mean age ± SD; 75.2 ± 2.7 years) were included in over 14.5 years of a prospective study, the Perth Longitudinal Study of Ageing in Women. CVD (up to 18-years prior to the baseline visit) and injurious fall hospitalizations over 14.5 years were obtained from linked health records. Self-reported falls for five …

Short-Term Effects Of Carbon Monoxide On Morbidity Of Chronic Obstructive Pulmonary Disease With Comorbidities In Beijing, Zhiwei Li, Feng Lu, Mengmeng Liu, Moning Guo, Lixin Tao, Tianqi Wang, Mengyang Liu, Xiuhua Guo, Xiangtong Liu

Research outputs 2022 to 2026

The association between CO and chronic obstructive pulmonary disease (COPD) has been widely reported; however, the association among patients with type 2 diabetes mellitus (T2DM) or hypertension has remained largely unknown in China. Over-dispersed generalized additive model was adopted to quantity the associations between CO and COPD with T2DM or hypertension. Based on principal diagnosis, COPD cases were identified according to the International Classification of Diseases (J44), and a history of T2DM and hypertension was coded as E12 and I10-15, O10-15, P29, respectively. A total of 459,258 COPD cases were recorded from 2014 to 2019. Each interquartile range uptick in …

Editorial: Untangle The Broad Connections And Tight Interactions Between Human Microbiota And Complex Diseases Through Data-Driven Approaches, Liang Wang, Zuo-Bin Zhu, Li Zhang, Jian Li, Qi Zhao

Research outputs 2022 to 2026

It is well-known that microorganisms are ubiquitous in the environment and occupy almost all habitats in animals and humans (Finlay and Clarke, 1999; Rosenberg, 2021). Traditionally, microorganisms are studied as individuals grown in isolation under artificial conditions; however, with the development of experimental techniques and computational methods, microbes are now frequently considered as a functional group in a particular niche and studied at the community level in order to best mimicking the real-world situations (American Academy of Microbiology, 2004). During the study of microbial communities, two terms are commonly used, that is, microbiota and microbiome.

Measures Of Carotid Atherosclerosis And Fall-Related Hospitalization Risk: The Perth Longitudinal Study Of Ageing Women, Abadi K. Gebre, Marc Sim, Jack Dalla Via, Alexander J. Rodríguez, Jonathan M. Hodgson, Catherine P. Bondonno, Peter L. Thompson, Richard L. Prince, Joshua R. Lewis

Research outputs 2022 to 2026

Background and aims: We and others have identified links between cardiovascular conditions and poor musculoskeletal health. However, the relationship between measures of carotid atherosclerosis such as focal carotid plaque and common carotid intima media thickness (CCA-IMT) and falls remains understudied. This study examined the association between measures of carotid atherosclerosis and fall-related hospitalization over 11.5 years in community dwelling older women. Methods and results: 1116 older women recruited in 1998 to a five-year randomized controlled trial to examine the effect of calcium supplementation in preventing fracture and who had undertaken B-mode ultrasound in 2001 (three years after the baseline clinical …

Genetic Association And Causal Inference Between Lung Function And Venous Thromboembolism, Qiaoyun Zhang, Xiaoyu Zhang, Jie Zhang, Mengyang Jiang, Yiqiang Zhang, Deqiang Zheng, Lijuan Wu, Wei Wang, Baoguo Wang, Youxin Wang

Research outputs 2022 to 2026

Background: Previous studies have indicated that lower lung function is related to a higher risk of venous thromboembolism (VTE). However, causal inferences may be affected by confounders, coheritability or reverse causality. We aimed to explore the causal association between lung function and VTE. Methods: Summary data from public genome-wide association studies (GWAS) for lung function and VTE were obtained from published meta-analysis studies and the FinnGen consortium, respectively. Independent genetic variables significantly related to exposure were filtered as proxy instruments. We adopted linkage disequilibrium score regression (LDSC) and two-sample Mendelian randomization (MR) analyses to infer the genetic backgrounds and causal …

What We Don't Need To Prove But Need To Do In Multidisciplinary Treatment And Care In Huntington's Disease: A Position Paper, Alzbeta Mühlbӓck, Marleen Van Walsem, Martha Nance, Astri Arnesen, Kirsty Page, Alexandra Fisher, Manon Van Kampen, Angela Nuzzi, Roy Limpert, Hanne Ludt Fossmo, Travis Cruickshank, Ruth Veenhuizen

Research outputs 2022 to 2026

Background: Huntington’s disease is a complex neurodegenerative hereditary disease with symptoms in all domains of a person’s functioning. It begins after a healthy start in life and leads through the relentless progression over many years to complete care dependency and finally death. To date, the disease is incurable. The long progressive complex nature of the disease demands multiple disciplines for treatment and care of patient and family. These health care providers need inter- and multidisciplinary collaboration to persevere and be efficacious in this devastating disease trajectory. Discussion: The position paper outlines current knowledge and experience alongside the experience and consensus …

Early Visual Alterations In Individuals At-Risk Of Alzheimer’S Disease: A Multidisciplinary Approach, Inés López-Cuenca, Alberto Nebreda, Alejandra García-Colomo, Elena Salobrar-García, Jaisalmer De Frutos-Lucas, Ricardo Bruña, Ana I. Ramírez, Federico Ramirez-Toraño, Juan J. Salazar, Ana Barabash, Pedro Gil, Fernando Maestú, José M. Ramírez, Rosa De Hoz

Research outputs 2022 to 2026

Background: The earliest pathological features of Alzheimer’s disease (AD) appear decades before the clinical symptoms. The pathology affects the brain and the eye, leading to retinal structural changes and functional visual alterations. Healthy individuals at high risk of developing AD present alterations in these ophthalmological measures, as well as in resting-state electrophysiological activity. However, it is unknown whether the ophthalmological alterations are related to the visual-related electrophysiological activity. Elucidating this relationship is paramount to understand the mechanisms underlying the early deterioration of the system and an important step in assessing the suitability of these measures as early biomarkers of disease. …

Temporal Relationship Between Atherogenic Dyslipidemia And Inflammation And Their Joint Cumulative Effect On Type 2 Diabetes Onset: A Longitudinal Cohort Study, Yulong Lan, Guanzhi Chen, Dan Wu, Xiong Ding, Zegui Huang, Xianxuan Wang, Lois Balmer, Xingang Li, Manshu Song, Wei Wang, Shouling Wu, Youren Chen

Research outputs 2022 to 2026

Background: Concurrent atherogenic dyslipidemia and elevated inflammation are commonly observed in overt hyperglycemia and have long been proposed to contribute to diabetogenesis. However, the temporal relationship between them and the effect of their cumulative co-exposure on future incident type 2 diabetes (T2D) remains unclear. Methods: Longitudinal analysis of data on 52,224 participants from a real-world, prospective cohort study (Kailuan Study) was performed to address the temporal relationship between high-sensitivity C-reactive protein (hsCRP) and the atherogenic index of plasma (AIP, calculated as triglyceride/high-density lipoprotein) in an approximately 4-year exposure period (2006/2007 to 2010/2011). After excluding 8824 participants with known diabetes, 43,360 …

Checkpoint Inhibitor Immune-Related Adverse Events: A Focused Review On Autoantibodies And B Cells As Biomarkers, Advancements And Future Possibilities, John Taylor, Aesha Gandhi, Elin Gray, Pauline Zaenker

Research outputs 2022 to 2026

The use of immune checkpoint inhibitors (ICIs) has evolved rapidly with unprecedented treatment benefits being obtained for cancer patients, including improved patient survival. However, over half of the patients experience immune related adverse events (irAEs) or toxicities, which can be fatal, affect the quality of life of patients and potentially cause treatment interruption or cessation. Complications from these toxicities can also cause long term irreversible organ damage and other chronic health conditions. Toxicities can occur in various organ systems, with common observations in the skin, rheumatologic, gastrointestinal, hepatic, endocrine system and the lungs. These are not only challenging to manage …

Decoding The Mechanism Of Hypertension Through Multiomics Profiling, Eric Adua

Research outputs 2022 to 2026

Hypertension, characterised by a constant high blood pressure, is the primary risk factor for multiple cardiovascular events and a major cause of death in adults. Excitingly, innovations in high-throughput technologies have enabled the global exploration of the whole genome (genomics), revealing dysregulated genes that are linked to hypertension. Moreover, post-genomic biomarkers, from the emerging fields of transcriptomics, proteomics, glycomics and lipidomics, have provided new insights into the molecular underpinnings of hypertension. In this paper, we review the pathophysiology of hypertension, and highlight the multi-omics approaches for hypertension prediction and diagnosis.

Plasma Aβ42/40 Ratio, P-Tau181, Gfap, And Nfl Across The Alzheimer's Disease Continuum: A Cross-Sectional And Longitudinal Study In The Aibl Cohort, Pratishtha Chatterjee, Steve Pedrini, James D. Doecke, Rohith Thota, Victor L. Villemagne, Vincent Doré, Abhay K. Singh, Penghao Wang, Stephanie Rainey-Smith, Christopher Fowler, Kevin Taddei, Hamid R. Sohrabi, Mark P. Molloy, David Ames, Paul Maruff, Christopher C. Rowe, Colin L. Masters, Ralph N. Martins, Aibl Research Group

Research outputs 2022 to 2026

Introduction:

Plasma amyloid beta (Aβ)1-42/Aβ1-40 ratio, phosphorylated-tau181 (p-tau181), glial fibrillary acidic protein (GFAP), and neurofilament light (NfL) are putative blood biomarkers for Alzheimer's disease (AD). However, head-to-head cross-sectional and longitudinal comparisons of the aforementioned biomarkers across the AD continuum are lacking.

Methods:

Plasma Aβ1-42, Aβ1-40, p-tau181, GFAP, and NfL were measured utilizing the Single Molecule Array (Simoa) platform and compared cross-sectionally across the AD continuum, wherein Aβ-PET (positron emission tomography)–negative cognitively unimpaired (CU Aβ−, n = 81) and mild cognitive impairment (MCI Aβ−, n = 26) participants were compared with Aβ-PET–positive participants across the AD continuum (CU Aβ+, n = …

Location Of Pathogenic Variants In Psen1 Impacts Progression Of Cognitive, Clinical, And Neurodegenerative Measures In Autosomal-Dominant Alzheimer's Disease, Stephanie A. Schultz, Zahra Shirzadi, Aaron P. Schultz, Lei Liu, Colleen D. Fitzpatrick, Eric Mcdade, Nicolas R. Barthelemy, Alan Renton, Bianca Esposito, Nelly Joseph-Mathurin, Carlos Cruchaga, Charles D. Chen, Alison Goate, Ricardo F. Allegri, Tammie L. S. Benzinger, Sarah Berman, Helena C. Chui, Anne M. Fagan, Martin R. Farlow, Nick C. Fox, Brian A. Gordon, Gregory S. Day, Neill R. Graff-Radford, Jason J. Hassenstab, Bernard J. Hanseeuw, Anna Hofmann, Clifford R. Jack Jr, Mathias Jucker, Celeste M. Karch, Robert A. Koeppe, Jae-Hong Lee, Allan I. Levey, Johannes Levin, Ralph Martins, Hiroshi Mori, John C. Morris, James Noble, Richard J. Perrin, Pedro Rosa-Neto, Stephen P. Salloway, Raquel Sanchez-Valle, Peter R. Schofield, Chengjie Xiong, Keith A. Johnson, Randall J. Bateman, Reisa A. Sperling, Jasmeer P. Chhatwal, Dominantly Inherited Alzheimer Network Investigators

Research outputs 2022 to 2026

Although pathogenic variants in PSEN1 leading to autosomal-dominant Alzheimer disease (ADAD) are highly penetrant, substantial interindividual variability in the rates of cognitive decline and biomarker change are observed in ADAD. We hypothesized that this interindividual variability may be associated with the location of the pathogenic variant within PSEN1. PSEN1 pathogenic variant carriers participating in the Dominantly Inherited Alzheimer Network (DIAN) observational study were grouped based on whether the underlying variant affects a transmembrane (TM) or cytoplasmic (CY) protein domain within PSEN1. CY and TM carriers and variant non-carriers (NC) who completed clinical evaluation, multimodal neuroimaging, and lumbar puncture for collection …

Patient Navigation Across The Cancer Care Continuum: An Overview Of Systematic Reviews And Emerging Literature, Raymond J. Chan, Vivienne E. Milch, Fiona Crawford-Williams, Oluwaseyifunmi A. Agbejule, Ria Joseph, Jolyn Johal, Narayanee Dick, Matthew P. Wallen, Julie Ratcliffe, Anupriya Agarwal, Larissa Nekhlyudov, Matthew Tieu, Manaf Al-Momani, Scott Turnbull, Rahul Sathiaraj, Dorothy Keefe, Nicolas H. Hart

Research outputs 2022 to 2026

Patient navigation is a strategy for overcoming barriers to reduce disparities and to improve access and outcomes. The aim of this umbrella review was to identify, critically appraise, synthesize, and present the best available evidence to inform policy and planning regarding patient navigation across the cancer continuum. Systematic reviews examining navigation in cancer care were identified in the Cochrane Central Register of Controlled Trials (CENTRAL), PubMed, Embase, Cumulative Index of Nursing and Allied Health (CINAHL), Epistemonikos, and Prospective Register of Systematic Reviews (PROSPERO) databases and in the gray literature from January 1, 2012, to April 19, 2022. Data were screened, …

A Potential Role For Sirtuin-1 In Alzheimer's Disease: Reviewing The Biological And Environmental Evidence, Mehrane Mehramiz, Tenielle Porter, Eleanor K. O'Brien, Stephanie R. Rainey-Smith, Simon M. Laws

Research outputs 2022 to 2026

Sirtuin-1 (Sirt1), encoded by the SIRT1 gene, is a conserved Nicotinamide adenine dinucleotide (NAD+) dependent deacetylase enzyme, considered as the master regulator of metabolism in humans. Sirt1 contributes to a wide range of biological pathways via several mechanisms influenced by lifestyle, such as diet and exercise. The importance of a healthy lifestyle is of relevance to highly prevalent modern chronic diseases, such as Alzheimer's disease (AD). There is growing evidence at multiple levels for a role of Sirt1/SIRT1 in AD pathological mechanisms. As such, this review will explore the relevance of Sirt1 to AD pathological mechanisms, by describing the involvement …

Plant-Based Dietary Patterns And Parkinson's Disease: A Prospective Analysis Of The Uk Biobank, Anna Tresserra-Rimbau, Alysha S. Thompson, Nicola Bondonno, Amy Jennings, Tilman Kühn, Aedín Cassidy

Research outputs 2022 to 2026

Background: Plant-based diets have been associated with a lower risk of several chronic diseases, but the relationship with PD is unknown. Objectives: We examined the association of three different plant-based diets with PD incidence in the UK Biobank cohort. Methods: We conducted a prospective study among 126,283 participants from the UK Biobank cohort. Three plant-based diet indices (overall plant-based diet index, PDI; healthful plant-based diet index, hPDI; and unhealthful plant-based diet index, uPDI) were derived from 24-hour dietary recalls based on 17 food groups. Multivariable Cox regression models were used to estimate the risk of PD across quartiles of the …

Prednisolone For Copd Exacerbations: Time For A Rethink, Sanjay Ramakrishnan

Research outputs 2022 to 2026

Prednisolone given universally for COPD exacerbations causes harm without any benefit. Patients deserve blood eosinophil-guided prednisolone treatment for COPD exacerbations.

Longitudinal Trajectories Of Basal Forebrain Volume In Normal Aging And Alzheimer's Disease, Ying Xia, Paul Maruff, Vincent Doré, Pierrick Bourgeat, Simon M. Laws, Christopher Fowler, Stephanie R. Rainey-Smith, Ralph N. Martins, Victor L. Villemagne, Christopher C. Rowe, Colin L. Masters, Elizabeth J. Coulson, Jurgen Fripp

Research outputs 2022 to 2026

Dysfunction of the cholinergic basal forebrain (BF) system and amyloid- (A ) deposition are early pathological features in Alzheimer's disease (AD). However, their association in early AD is not well-established. This study investigated the nature and magnitude of volume loss in the BF, over an extended period, in 516 older adults who completed A -PET and serial magnetic resonance imaging scans. Individuals were grouped at baseline according to the presence of cognitive impairment (CU, CI) and A status (A −, A +). Longitudinal volumetric changes in the BF and hippocampus were assessed across groups. The results indicated that high A …

Discovery Of A Missense Mutation (Q222k) Of The Apoe Gene From The Australian Imaging, Biomarker And Lifestyle Study, Blaine R. Roberts, Scott B. Laffoon, Anne M. Roberts, Tenielle Porter, Chris Fowler, Colin L. Masters, Edward A. Dratz, Simon M. Laws

Research outputs 2022 to 2026

After age, polymorphisms of the Apolipoprotein E (APOE) gene are the biggest risk factor for the development of Alzheimer's disease (AD). During our investigation to discovery biomarkers in plasma, using 2D gel electrophoresis, we found an individual with and unusual apoE isoelectric point compared to APOE ϵ2, ϵ3, and ϵ4 carriers. Whole exome sequencing of APOE from the donor confirmed a single nucleotide polymorphism (SNP) in exon 4, translating to a rare Q222K missense mutation. The apoE ϵ4 (Q222K) mutation did not form dimers or complexes observed for apoE ϵ2 ϵ3 proteins.

Driving With Retinitis Pigmentosa, Rachael C. Heath Jeffery, Johnny Lo, Jennifer A. Thompson, Tina M. Lamey, Terri L. Mclaren, John N. Deroach, Miguel S. Kabilio, Fred K. Chen

Research outputs 2022 to 2026

Background: To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FTD) visual standards. Methodology: A prospective consecutive case series of patients with a clinical or genetic diagnosis of RP. Data on age at symptom onset, current driving status, inheritance pattern, better eye visual acuity (BEVA), binocular Esterman visual field (BEVF) parameters, genotype and ability to meet the driving standards based on BEVA and BEVF were collected. Outcome measures included the proportion of RP patients overall meeting the standards and clinical predictors for passing. A sub-analysis was performed on those RP patients who reported …

Editorial: Viral Infection, Tumor Development And Host Immune Response, Xin Li, Liwei An, Yucui Jin, Jun Gui, Weitao Lin, Zhenke Wen, Muzaffer Ahmad Kassab, Jie Chen

Research outputs 2022 to 2026

Cancer is a devastating disease that remains a leading cause of death worldwide. According to recent statistics, cancer was responsible for 10 million deaths in 2020 alone (Ferlay et al., 2021). Of these cases, viral infections associated cancers have been found to contribute to a significant proportion, with chronic infections such as hepatitis B and C viruses (HBV and HCV), human papillomavirus (HPV), Epstein-Barr virus (EBV), and Human immunodeficiency virus (HIV) being particularly noteworthy. Inflammation and immune response are also closely linked to tumorigenesis, making it crucial to understand how viral infections and host immune response contribute to cancer development …

Multimodal Exercise In Older Patients With Advanced Pancreatic Cancer Undergoing First-Line Chemotherapy: A Case Series Examining Feasibility And Preliminary Efficacy, Hao Luo, Daniel A. Galvão, Robert U. Newton, Colin I. Tang, Nigel Spry, Dennis R. Taaffe

Research outputs 2022 to 2026

Purpose. Exercise is emerging as an adjunct therapy to cancer treatment; however, its role in older patients with advanced pancreatic cancer undergoing first-line chemotherapy is unclear. The aim of this study was to primarily provide evidence on feasibility with an exploratory examination of the initial efficacy of exercise in this clinical setting.

Materials and Methods. Six patients aged 60–75 years with de novo or recurrent advanced pancreatic cancer undergoing first-line chemotherapy consented to participate in twice-weekly exercise that included resistance and aerobic training and boxing-related activities for up to 12 weeks. Patients were monitored for attendance, adherence, and …

Tackling Dementia Together Via The Australian Dementia Network (Adnet): A Summary Of Initiatives, Progress And Plans, Sharon L. Naismith, Johannes C. Michaelian, Cherry Santos, Inga Mehrani, Joanne Robertson, Kasey Wallis, Xiaoping Lin, Stephanie A. Ward, Ralph Martins, Colin L. Masters, Michael Breakspear, Susannah Ahern, Jurgen Fripp, Peter R. Schofield, Perminder S. Sachdev, Christopher C. Rowe

Research outputs 2022 to 2026

In 2018, the Australian Dementia Network (ADNeT) was established to bring together Australia's leading dementia researchers, people with living experience and clinicians to transform research and clinical care in the field. To address dementia diagnosis, treatment, and care, ADNeT has established three core initiatives: the Clinical Quality Registry (CQR), Memory Clinics, and Screening for Trials. Collectively, the initiatives have developed an integrated clinical and research community, driving practice excellence in this field, leading to novel innovations in diagnostics, clinical care, professional development, quality and harmonization of healthcare, clinical trials, and translation of research into practice. Australia now has a national …