Diseases Commons^™

Impaired Muscle Function, Including Its Decline, Is Related To Greater Long-Term Late-Life Dementia Risk In Older Women, Simone Radavelli-Bagatini, Helen Macpherson, David Scott, Robin M. Daly, Jonathan M. Hodgson, Simon M. Laws, Kun Zhu, Richard L. Prince, Joshua R. Lewis, Marc Sim

Research outputs 2022 to 2026

Background: Impaired muscle function has been identified as a risk factor for declining cognitive function and cardiovascular health, both of which are risk factors for late-life dementia (after 80 years of age). We examined whether hand grip strength and timed-up-and-go (TUG) performance, including their change over 5 years, were associated with late-life dementia events in older women and whether any associations provided independent information to Apolipoprotein E ℇ4 (APOE ℇ4) genotype. Methods: Grip strength and TUG were assessed in community-dwelling older women (mean ± SD; age 75.0 ± 2.6 years) at baseline (n = 1225) and 5 years (n = …

Differential Dna Methylation Of Steatosis And Non-Alcoholic Fatty Liver Disease In Adolescence, Phillip E. Melton, M. A. Burton, K. A. Lillycrop, K. M. Godfrey, S. Rauschert, D. Anderson, G. C. Burdge, T. A. Mori, L. J. Beilin, O. T. Ayonrinde, J. M. Craig, John K. Olynyk, J. D. Holbrook, C. E. Pennell, W. H. Oddy, E. K. Moses, L. A. Adams, R. C. Huang

Research outputs 2022 to 2026

Background and aims:

Epigenetic modifications are associated with hepatic fat accumulation and non-alcoholic fatty liver disease (NAFLD). However, few epigenetic modifications directly implicated in such processes have been identified during adolescence, a critical developmental window where physiological changes could influence future disease trajectory. To investigate the association between DNA methylation and NAFLD in adolescence, we undertook discovery and validation of novel methylation marks, alongside replication of previously reported marks.

Approach and results:

We performed a DNA methylation epigenome-wide association study (EWAS) on DNA from whole blood from 707 Raine Study adolescents phenotyped for steatosis score and NAFLD by ultrasound at …

Does Lower-Limb Osteoarthritis Alter Motor Cortex Descending Drive And Voluntary Activation? A Systematic Review And Meta-Analysis, Myles C. Murphy, Christopher Latella, Ebonie K. Rio, Janet L. Taylor, Stephanie Martino, Colin Sylvester, William Hale, Andrea B. Mosler

Research outputs 2022 to 2026

Purpose: The aim of the study was to quantify motor cortex descending drive and voluntary activation (VA) in people with lower-limb OA compared to controls. Methods: A systematic review and meta-analysis according to the PRISMA guidelines was carried out. Seven databases were searched until 30 December 2022. Studies assessing VA or responses to transcranial magnetic stimulation (TMS; i.e. motor evoked potential, intracortical facilitation, motor threshold, short-interval intracortical inhibition, and silent period) were included. Study quality was assessed using Joanna Briggs Institute criteria and evidence certainty using GRADE. The meta-analysis was performed using RevMan inverse variance, mixed-effect models. Results: Eighteen studies …

Ketone Bodies Mediate Alterations In Brain Energy Metabolism And Biomarkers Of Alzheimer’S Disease, Matin Ramezani, Malika Fernando, Shaun Eslick, Prita R. Asih, Sina Shadfar, Ekanayaka M. S. Bandara, Heidi Hillebrandt, Silochna Meghwar, Maryam Shahriari, Pratishtha Chatterjee, Rohith Thota, Cintia B. Dias, Manohar L. Garg, Ralph N. Martins

Research outputs 2022 to 2026

Alzheimer’s disease (AD) is the most common form of dementia. AD is a progressive neurodegenerative disorder characterized by cognitive dysfunction, including learning and memory deficits, and behavioral changes. Neuropathology hallmarks of AD such as amyloid beta () plaques and neurofibrillary tangles containing the neuron-specific protein tau is associated with changes in fluid biomarkers including A , phosphorylated tau (p-tau)-181, p-tau 231, p-tau 217, glial fibrillary acidic protein (GFAP), and neurofilament light (NFL). Another pathological feature of AD is neural damage and hyperactivation of astrocytes, that can cause increased pro-inflammatory mediators and oxidative stress. In addition, reduced brain glucose metabolism and …

Detectable Ctdna At The Time Of Treatment Cessation Of Ipilimumab And Nivolumab For Toxicity Predicts Disease Progression In Advanced Melanoma Patients, Lydia Warburton, Anna Reid, Benhur Amanuel, Leslie Calapre, Michael Millward, Elin Gray

Research outputs 2022 to 2026

Background: Immune checkpoint inhibition (ICI) has led to unprecedented outcomes for melanoma patients but is associated with toxicity. ICI resumption after high grade irAEs poses a significant challenge in the clinical management of melanoma patients and there are no biomarkers that can help identify patients that might benefit from resuming treatment. This study aims to determine if circulating tumor DNA (ctDNA) levels at the time of treatment-limiting irAE could guide treatment decisions in this clinical context. Methods: This is a retrospective exploratory biomarker study from 34 patients treated with combination ICI for stage IV melanoma. Patients had a treatment-limiting toxicity …

It's Quite Good Fun: A Qualitative Study Of A Singing/Songwriting Programme For People With Parkinson's Disease And Their Spouses, Deborah Hersh, Shi J. Kong, Jessica Smith

Research outputs 2022 to 2026

Background: : Group singing for people with Parkinson's disease (PD) is an established intervention not only to improve voice and speech difficulties but also for emotional and social benefit. Less is known about the experiences of group singing on the couple—the person with PD and their spouse or partner together—and studies have not specifically tracked impact through time or in combination with songwriting. Aims: : To understand the impact of group singing/songwriting on couples (participants with PD and their spouses) to unpack whether this broader view might help explain why such interventions are reported as beneficial. Using a trajectory approach, …

Utility Of Dna Methylation As A Biomarker In Ageing And Alzheimer’S Disease, Lidija Milicic, Tenielle Porter, Michael Vacher, Simon M. Laws

Research outputs 2022 to 2026

Epigenetic mechanisms such as DNA methylation have been implicated in a number of diseases including cancer, heart disease, autoimmune disorders, and neurodegenerative diseases. While it is recognized that DNA methylation is tissue-specific, a limitation for many studies is the ability to sample the tissue of interest, which is why there is a need for a proxy tissue such as blood, that is reflective of the methylation state of the target tissue. In the last decade, DNA methylation has been utilized in the design of epigenetic clocks, which aim to predict an individual’s biological age based on an algorithmically defined set …

Prognostic And Predictive Value Of Metformin In The European Organisation For Research And Treatment Of Cancer 1325/Keynote-054 Phase Iii Trial Of Pembrolizumab Versus Placebo In Resected High-Risk Stage Iii Melanoma, Oliver J. Kennedy, Michal Kicinski, Sara Valpione, Sara Gandini, Stefan Suciu, Christian U. Blank, Georgina V. Long, Victoria G. Atkinson, Stéphane Dalle, Andrew M. Haydon, Andrey Meshcheryakov, Adnan Khattak, Matteo S. Carlino, Shahneen Sandhu, James Larkin, Susana Puig, Paolo A. Ascierto, Piotr Rutkowski, Dirk Schadendorf, Marye Boers-Sonderen, Anna M. Di Giacomo, Alfonsus J. M. Van Der Eertwegh, Jean-Jacques Grob, Ralf Gutzmer, Rahima Jamal, Alexander C. J. Van Akkooi, Caroline Robert, Alexander M. M. Eggermont, Paul Lorigan, Mario Mandala

Research outputs 2022 to 2026

Background: Metformin is a commonly prescribed and well-tolerated medication. In laboratory studies, metformin suppresses BRAF wild-type melanoma cells but accelerates the growth of BRAF-mutated cells. This study investigated the prognostic and predictive value of metformin, including with respect to BRAF mutation status, in the European Organisation for Research and Treatment of Cancer 1325/KEYNOTE-054 randomised controlled trial. Methods: Patients with resected high-risk stage IIIA, IIIB, or IIIC melanoma received 200 mg of pembrolizumab (n = 514) or placebo (n = 505) every 3 weeks for twelve months. Pembrolizumab prolonged recurrence-free survival (RFS) and distant metastasis-free survival (DMFS) at approximately 42 months …

Externalizing Traits: Shared Causalities For Covid-19 And Alzheimer's Dementia Using Mendelian Randomization Analysis, Haotian Wang, Mingyang Cao, Yingjun Xi, Weijie Cao, Xiaoyu Zhang, Xiaoni Meng, Deqiang Zheng, Lijuan Wu, Wei Wang, Di Liu, Youxin Wang

Research outputs 2022 to 2026

Externalizing traits have been related with the outcomes of coronavirus disease 2019 (COVID-19) and Alzheimer's dementia (AD); however, whether these associations are causal remains unknown. We used the two-sample Mendelian randomization (MR) approach with more than 200 single-nucleotide polymorphisms (SNPs) for externalizing traits to explore the causal associations of externalizing traits with the risk of COVID-19 (infected COVID-19, hospitalized COVID-19, and severe COVID-19) or AD based on the summary data. The inverse variance–weighted method (IVW) was used to estimate the main effect, followed by several sensitivity analyses. IVW analysis showed significant associations of externalizing traits with COVID-19 infection (odds ratio …

Machine-Learning Assessed Abdominal Aortic Calcification Is Associated With Long-Term Fall And Fracture Risk In Community-Dwelling Older Australian Women, Jack Dalla Via, Abadi Gebre, Cassandra Smith, Zulqarnain Gilani, David Suter, Naeha Sharif, Pawel Szulc, John T. Schousboe, Douglas P. Kiel, Kun Zhu, William D. Leslie, Richard L. Prince, Joshua R. Lewis, Marc Sim

Research outputs 2022 to 2026

Abdominal aortic calcification (AAC), a recognized measure of advanced vascular disease, is associated with higher cardiovascular risk and poorer long-term prognosis. AAC can be assessed on dual-energy X-ray absorptiometry (DXA)-derived lateral spine images used for vertebral fracture assessment at the time of bone density screening using a validated 24-point scoring method (AAC-24). Previous studies have identified robust associations between AAC-24 score, incident falls, and fractures. However, a major limitation of manual AAC assessment is that it requires a trained expert. Hence, we have developed an automated machine-learning algorithm for assessing AAC-24 scores (ML-AAC24). In this prospective study, we evaluated the …

Corrigendum: Evolution, Ecology, And Zoonotic Transmission Of Betacoronaviruses: A Review, Herbert F. Jelinek, Mira Mousa, Eman Alefishat, Wael Osman, Ian Spence, Dengpan Bu, Samuel F. Feng, Jason Byrd, Paola A. Magni, Shafi Sahibzada, Guan K. Tay, Habiba S. Alsafar

Research outputs 2022 to 2026

In the published article, there was an error in the legend for Figure 1 as published. The figure legend did not indicate that it has been adapted from Plowright et al. (2017). Copyright permission was obtained from Springer Nature to adapt Figure 1 from Plowright et al. (2017). The corrected legend appears below. Figure 1. Zoonotic risk distribution, pathway to spillover, and the multimodal role of the determinants of spillover. The zoonotic risk is demonstrated by the accumulated distribution of reservoir hosts and vectors that play a role in the pathway to spillover. The risk of spillover is determined by …

Association Between Immunoglobulin G N-Glycosylation And Lupus Nephritis In Female Patients With Systemic Lupus Erythematosus: A Case-Control Study, Xinxia Lu, Liangao Wang, Meng Wang, Yuejin Li, Qinqin Zhao, Yanjun Shi, Yujing Zhang, Yingjie Wang, Wei Wang, Long Ji, Haifeng Hou, Dong Li

Research outputs 2022 to 2026

Background: Lupus nephritis (LN) is a crucial complication of systemic lupus erythematosus (SLE) and has important clinical implications in guiding treatment. N-glycosylation of immunoglobulin G (IgG) plays a key role in the development of SLE by affecting the balance of anti-inflammatory and proinflammatory responses. This study aimed to evaluate the performance of IgG N-glycosylation for diagnosing LN in a sample of female SLE patients. Methods: This case-control study recruited 188 women with SLE, including 94 patients with LN and 94 age-matched patients without LN. The profiles of plasma IgG N-glycans were detected by hydrophilic interaction chromatography with ultra-performance liquid chromatography …

Incidence And Mortality Of Conjunctival Melanoma In Australia (1982 To 2014), Aaron B. Beasley, David B. Preen, Samuel Mclenachan, Elin S. Gray, Fred K. Chen

Research outputs 2022 to 2026

Purpose: The purpose of this study was to estimate the incidence and mortality of conjunctival melanoma in Australia from 1982 to 2014. Methods: De-identified unit data for all cases of ocular melanoma were extracted from the Australian Cancer Database from 1982 to 2014. Conjunctival melanoma cases were extracted, and the incidence and mortality were analyzed. Incidence rates were age-standardized against the 2001 Australian Standard Population. Mortality was assessed using log-rank and Cox regression. Results: From 1982 to 2014, there were 299 cases of conjunctival melanoma. The age-standardized incidence rate was 0.48 (95% confidence interval [CI] = 0.41 to 0.54) per …

Diagnostic Accuracy Of Autoverification And Guidance System For Covid-19 Rt-Pcr Results, Yingmu Cai, Mengyu Liu, Zhiyuan Wu, Cuihong Tian, Song Qiu, Zhen Li, Feng Xu, Wei Li, Yan Zheng, Aijuan Xu, Longxu Xie, Xuerui Tan

Research outputs 2022 to 2026

Background:

To date, most countries worldwide have declared that the pandemic of COVID-19 is over, while the WHO has not officially ended the COVID-19 pandemic, and China still insists on the personalized dynamic COVID-free policy. Large-scale nucleic acid testing in Chinese communities and the manual interpretation for SARS-CoV-2 nucleic acid detection results pose a huge challenge for labour, quality and turnaround time (TAT) requirements. To solve this specific issue while increase the efficiency and accuracy of interpretation, we created an autoverification and guidance system (AGS) that can automatically interpret and report the COVID-19 reverse transcriptase-polymerase chain reaction (RT-PCR) results relaying …

Covid-19 In Western Australia: ‘The Last Straw’ And Hopes For A ‘New Normal’ For Parents Of Children With Long-Term Conditions, Stephanie Smith, Mary Tallon, James Smith, Lauren Jones, Evalotte Mörelius

Research outputs 2022 to 2026

Background: Children with long-term conditions are vulnerable due to the treatments required for their conditions. Since the start of the coronavirus disease 2019 (COVID-19) pandemic, Western Australians experienced restrictions that changed daily life activities but were able to return to some of their previous routines due to the restrictions. Aim: The study explored the stress experiences of parents caring for children with long-term conditions during COVID-19 in Western Australia. Design and Participants: The study was codesigned with a parent representative caring for children with long-term conditions to ensure essential questions were targeted. Twelve parents of children with various long-term conditions …

How General Practitioners And Patients Discuss Type 2 Diabetes Mellitus And Cardiovascular Diseases Concerns During Consultations: Implications For Digital Health, Urvashi Rohilla, Jayashanthi P. Ramarao, Jared Lane, Neha N. Khatri, James Smith, Kathleen Yin, Annie Y. S. Lau

Research outputs 2022 to 2026

Objective: To analyse general practitioner–patient consultations about type 2 diabetes mellitus or cardiovascular diseases and describe (i) the nature of self-management discussions; (ii) actions required from patients during and after consultation regarding self-management; and (iii) implications for digital health to support patients during (and after) consultation. Method: This study screened 281 general practitioner consultations conducted in 2017 within the UK general practice setting from an existing dataset containing videos and transcripts of consultations between GPs and patients. Secondary analysis was conducted using a multi-method approach, including descriptive, content, and visualisation analysis, to inform the nature of self-management discussions, what actions …

Two-Year Prognostic Utility Of Plasma P217+Tau Across The Alzheimer’S Continuum, A. Feizpour, V. Doré, J. D. Doecke, Z. S. Saad, G. Triana-Baltzer, R. Slemmon, P. Maruff, N. Krishnadas, P. Bourgeat, K. Huang, C. Fowler, S. R. Rainey-Smith, A. I. Bush, L. Ward, J. Robertson, R. N. Martins, C. L. Masters, V. L. Villemagne, J. Fripp, H. C. Kolb, C. C. Rowe

Research outputs 2022 to 2026

Background: Plasma p217+tau has shown high concordance with cerebrospinal fluid (CSF) and positron emission tomography (PET) measures of amyloid- (A ) and tau in Alzheimer’s Disease (AD). However, its association with longitudinal cognition and comparative performance to PET A and tau in predicting cognitive decline are unknown. Objectives: To evaluate whether p217+tau can predict the rate of cognitive decline observed over two-year average follow-up and compare this to prediction based on A (18F-NAV4694) and tau (18F-MK6240) PET. We also explored the sample size required to detect a 30% slowing in cognitive decline in a 2-year trial and selection test cost …

Identification And Validation Of Igg N-Glycosylation Biomarkers Of Esophageal Carcinoma, Huiying Pan, Zhiyuan Wu, Haiping Zhang, Jie Zhang, Yue Liu, Zhiwei Li, Wei Feng, Guiqi Wang, Yong Liu, Deli Zhao, Zhiyi Zhang, Yuqin Liu, Zhe Zhang, Xiangtong Liu, Lixin Tao, Yanxia Luo, Xiaonan Wang, Xinghua Yang, Feng Zhang, Xia Li, Xiuhua Guo

Research outputs 2022 to 2026

Introduction: Altered Immunoglobulin G (IgG) N-glycosylation is associated with aging, inflammation, and diseases status, while its effect on esophageal squamous cell carcinoma (ESCC) remains unknown. As far as we know, this is the first study to explore and validate the association of IgG N-glycosylation and the carcinogenesis progression of ESCC, providing innovative biomarkers for the predictive identification and targeted prevention of ESCC. Methods: In total, 496 individuals of ESCC (n=114), precancerosis (n=187) and controls (n=195) from the discovery population (n=348) and validation population (n=148) were recruited in the study. IgG N-glycosylation profile was analyzed and an ESCC-related glycan score was …

Microvascular And Macrovascular Complications Of Type 2 Diabetes Mellitus: Exome Wide Association Analyses, Afnan Mansour, Mira Mousa, Dima Abdelmannan, Guan Tay, Ahmed Hassoun, Habiba Alsafar

Research outputs 2022 to 2026

Background: Type 2 diabetes mellitus (T2DM) is a chronic, metabolic disorder in which concomitant insulin resistance and β-cell impairment lead to hyperglycemia, influenced by genetic and environmental factors. T2DM is associated with long-term complications that have contributed to the burden of morbidity and mortality worldwide. The objective of this manuscript is to conduct an Exome-Wide Association Study (EWAS) on T2DM Emirati individuals to improve our understanding on diabetes-related complications to improve early diagnostic methods and treatment strategies. Methods: This cross-sectional study recruited 310 Emirati participants that were stratified according to their medically diagnosed diabetes-related complications: diabetic retinopathy, diabetic neuropathy, diabetic …

Physical Education And Covid-19: What Have We Learned?, Valeria Varea, Ana Riccetti, Gustavo González-Calvo, Marcela Siracusa, Alfonso García-Monge

Research outputs 2022 to 2026

The aim of this paper is to explore what we have learned during the COVID-19 pandemic in the field of Physical Education in three different countries: Argentina, Spain and Sweden. Data were generated through semi-structured interviews, and the concept of field agency is used to make sense of the data. Differences were found among the three countries, regarding the content of the classes, the use of resources, the emotions of teachers, and the use of physical contact. This was also a result of the regulations and resources in place. The COVID-19 pandemic has demonstrated that the nature of the field …

Sixteen-Year Longitudinal Evaluation Of Blood-Based Dna Methylation Biomarkers For Early Prediction Of Alzheimer's Disease, Fernanda Schäfer Hackenhaar, Maria Josefsson, Annelie Nordin Adolfsson, Mattias Landfors, Karolina Kauppi, Tenielle Porter, Lidija Milicic, Simon M. Laws, Magnus Hultdin, Rolf Adolfsson, Sofie Degerman, Sara Pudas, Australian Imaging Biomarkers And Lifestyle Study

Research outputs 2022 to 2026

BACKGROUND: DNA methylation (DNAm), an epigenetic mark reflecting both inherited and environmental influences, has shown promise for Alzheimer's disease (AD) prediction. OBJECTIVE: Testing long-term predictive ability ( > 15 years) of existing DNAm-based epigenetic age acceleration (EAA) measures and identifying novel early blood-based DNAm AD-prediction biomarkers. METHODS: EAA measures calculated from Illumina EPIC data from blood were tested with linear mixed-effects models (LMMs) in a longitudinal case-control sample (50 late-onset AD cases; 51 matched controls) with prospective data up to 16 years before clinical onset, and post-onset follow-up. Novel DNAm biomarkers were generated with epigenome-wide LMMs, and Sparse Partial Least Squares …

Orthodox Vs Paradox: The Roles Of Glycomics, Genetics And Beyond In Immunity, Immune Disorders And Glycomedicine, Wei Wang

Research outputs 2022 to 2026

The traditional ‘central dogma’ describes the flow of genetic information from DNA to RNA to protein. This process highlights the critical role of genes in living organisms. Nonetheless, ongoing immunological research coming to realize that emerging disciplines like glycomics and epigenetics are challenging the traditional viewpoint and extending the boundaries of the ‘central dogma’. . . .

Genetic And Immunological Insights Into Covid-19 With Acute Myocardial Infarction: Integrated Analysis Of Mendelian Randomization, Transcriptomics, And Clinical Samples, Zequn Zheng, Yueran Zhou, Yongfei Song, Pengxiang Ying, Xuerui Tan

Research outputs 2022 to 2026

Background: Globally, most deaths result from cardiovascular diseases, particularly ischemic heart disease. COVID-19 affects the heart, worsening existing heart conditions and causing myocardial injury. The mechanistic link between COVID-19 and acute myocardial infarction (AMI) is still being investigated to elucidate the underlying molecular perspectives. Methods: Genetic risk assessment was conducted using two-sample Mendelian randomization (TSMR) to determine the causality between COVID-19 and AMI. Weighted gene co-expression network analysis (WGCNA) and machine learning were used to discover and validate shared hub genes for the two diseases using bulk RNA sequencing (RNA-seq) datasets. Additionally, gene set enrichment analysis (GSEA) and single-cell RNA-seq …

Patterns And Implications Of Neurological Examination Findings In Autosomal Dominant Alzheimer Disease, Jonathan Vöglein, Nicolai Franzmeier, John C. Morris, Marianne Dieterich, Eric Mcdade, Mikael Simons, Oliver Preische, Anna Hofmann, Jason Hassenstab, Tammie L. Benzinger, Anne Fagan, James M. Noble, Sarah B. Berman, Neill R. Graff-Radford, Bernardino Ghetti, Martin R. Farlow, Jasmeer P. Chhatwal, Stephen Salloway, Chengjie Xiong, Celeste M. Karch, Nigel Cairns, Richard J. Perrin, Gregory Day, Ralph Martins, Raquel Sanchez-Valle, Hiroshi Mori, Hiroyuki Shimada, Takeshi Ikeuchi, Kazushi Suzuki, Peter R. Schofield, Colin L. Masters, Alison Goate, Virginia Buckles, Nick C. Fox, Patricio Chrem, Ricardo Allegri, John M. Ringman, Igor Yakushev, Christoph Laske, Mathias Jucker, Günter Höglinger, Randall L. Bateman, Adrian Danek, Johannes Levin, Dominantly Inherited Alzheimer Network

Research outputs 2022 to 2026

Introduction:

As knowledge about neurological examination findings in autosomal dominant Alzheimer disease (ADAD) is incomplete, we aimed to determine the frequency and significance of neurological examination findings in ADAD.

Methods:

Frequencies of neurological examination findings were compared between symptomatic mutation carriers and non mutation carriers from the Dominantly Inherited Alzheimer Network (DIAN) to define AD neurological examination findings. AD neurological examination findings were analyzed regarding frequency, association with and predictive value regarding cognitive decline, and association with brain atrophy in symptomatic mutation carriers.

Results:

AD neurological examination findings included abnormal deep tendon reflexes, gait disturbance, pathological cranial nerve examination findings, …

Consensus Guidelines For Sarcopenia Prevention, Diagnosis And Management In Australia And New Zealand, Jesse Zanker, Marc Sim, Kate Anderson, Saliu Balogun, Sharon L. Brennan-Olsen, Elsa Dent, Gustavo Duque, Christian M. Girgis, Mathis Grossmann, Alan Hayes, Tim Henwood, Vasant Hirani, Charles Inderjeeth, Sandra Iuliano, Justin Keogh, Joshua R. Lewis, Gordon S. Lynch, Julie A. Pasco, Steven Phu, Esmee M. Reijnierse, Nicholas Russell, Lara Vlietstra, Renuka Visvanathan, Troy Walker, Debra L. Waters, Solomon Yu, Andrea B. Maier, Robin M. Daly, David Scott

Research outputs 2022 to 2026

Background:

Sarcopenia is an age-associated skeletal muscle condition characterized by low muscle mass, strength, and physical performance. There is no international consensus on a sarcopenia definition and no contemporaneous clinical and research guidelines specific to Australia and New Zealand. The Australian and New Zealand Society for Sarcopenia and Frailty Research (ANZSSFR) Sarcopenia Diagnosis and Management Task Force aimed to develop consensus guidelines for sarcopenia prevention, assessment, management and research, informed by evidence, consumer opinion, and expert consensus, for use by health professionals and researchers in Australia and New Zealand.

Methods:

A four-phase modified Delphi process involving topic experts and informed …

Causal Effect Of Pm1 On Morbidity Of Cause-Specific Respiratory Diseases Based On A Negative Control Exposure, Shiyun Lv, Xiangtong Liu, Zhiwei Li, Feng Lu, Moning Guo, Mengmeng Liu, Jing Wei, Zhiyuan Wu, Siqi Yu, Shihong Li, Xia Li, Wenkang Gao, Lixin Tao, Wei Wang, Jinyuan Xin, Xiuhua Guo

Research outputs 2022 to 2026

Background: Extensive studies have linked PM2.5 and PM10 with respiratory diseases (RD). However, few is known about causal association between PM1 and morbidity of RD. We aimed to assess the causal effects of PM1 on cause-specific RD. Methods: Hospital admission data were obtained for RD during 2014 and 2019 in Beijing, China. Negative control exposure and extreme gradient boosting with SHapley Additive exPlanation was used to explore the causality and contribution between PM1 and RD. Stratified analysis by gender, age, and season was conducted. Results: A total of 1,183,591 admissions for RD were recorded. Per interquartile range (28 μg/m3) uptick …

Facial Dermatosis Papulosa Nigra, A Risk For The Development Of Pterygium And Myopia: A Descriptive Cross-Sectional Study In Ghana, Du Bois Asante, Korantema M. Tsegah, Ebenezer Afrifa-Yamoah, Samuel Kyei, Dunyah J. Dzidzor, Reindolf Anokye

Research outputs 2022 to 2026

Background: Dermatosis papulosa nigra (DPN) affects sun-exposed areas such as the face, neck, and trunk. The prevalence of pterygium and myopia in DPN patients in Ghana has not been studied. In this study, we examined the risk and protective factors for pterygium and myopia in DPN patients. Materials and Methods: The study involved 100 participants with facial DPN. A standard ophthalmic exam was performed using a portable slit lamp and a 3.5 X magnified loop. Participants completed a closed-ended questionnaire. Logistic regression was used to summarize the level of association between DPN, myopia, and pterygium, as well as demographic factors …

Machine Learning Of Plasma Metabolome Identifies Biomarker Panels For Metabolic Syndrome: Findings From The China Suboptimal Health Cohort, Hao Wang, Youxin Wang, Xingang Li, Xuan Deng, Yuanyuan Kong, Wei Wang, Yong Zhou

Research outputs 2022 to 2026

Background: Metabolic syndrome (MetS) has been proposed as a clinically identifiable high-risk state for the prediction and prevention of cardiovascular diseases and type 2 diabetes mellitus. As a promising “omics” technology, metabolomics provides an innovative strategy to gain a deeper understanding of the pathophysiology of MetS. The study aimed to systematically investigate the metabolic alterations in MetS and identify biomarker panels for the identification of MetS using machine learning methods. Methods: Nuclear magnetic resonance-based untargeted metabolomics analysis was performed on 1011 plasma samples (205 MetS patients and 806 healthy controls). Univariate and multivariate analyses were applied to identify metabolic biomarkers …

Relationship Of Cognition And Alzheimer’S Disease With Gastrointestinal Tract Disorders: A Large-Scale Genetic Overlap And Mendelian Randomisation Analysis, Emmanuel O. Adewuyi, Eleanor K. O’Brien, Tenielle Porter, Simon M. Laws

Research outputs 2022 to 2026

Emerging observational evidence suggests links between cognitive impairment and a range of gastrointestinal tract (GIT) disorders; however, the mechanisms underlying their relationships remain unclear. Leveraging large-scale genome-wide association studies’ summary statistics, we comprehensively assessed genetic overlap and potential causality of cognitive traits and Alzheimer’s disease (AD) with several GIT disorders. We demonstrate a strong and highly significant inverse global genetic correlation between cognitive traits and GIT disorders — peptic ulcer disease (PUD), gastritis-duodenitis, diverticulosis, irritable bowel syndrome, and gastroesophageal reflux disease (GERD), but not inflammatory bowel disease (IBD). Further analysis detects 35 significant (p < 4.37 × 10 ^{− 5}) bivariate local genetic …

Vascular Endothelial Growth Factor And The Risk Of Venous Thromboembolism: A Genetic Correlation And Two-Sample Mendelian Randomization Study, Qiaoyun Zhang, Xiaoyu Zhang, Jie Zhang, Biyan Wang, Qiuyue Tian, Xiaoni Meng, Jinxia Zhang, Mengyang Jiang, Yiqiang Zhang, Deqiang Zheng, Lijuan Wu, Wei Wang, Baoguo Wang, Youxin Wang

Research outputs 2022 to 2026

Background: The relationship between vascular endothelial growth factor (VEGF) and the risk of venous thromboembolism (VTE) has always been one of the concerns in the medical field. However, the causal inferences from published observational studies on this issue may be affected by confounders or reverse causality. We performed a two-sample bidirectional Mendelian randomization (MR) to infer the associations between VEGF and VTE. Methods: Summary statistics from genome-wide association studies (GWAS) for VEGF and VTE were obtained from published meta-analysis studies and the FinnGen consortium, respectively. Independent genetic variables significantly associated with exposure were selected as instrumental variables. Linkage disequilibrium score …