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Articles 201301 - 201330 of 2935067

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A Typological Study Of The Provision And Use Of Communal Outdoor Space In Australian Apartment Developments, Julian Bolleter, Paula Hooper, Alex Kleeman, Nicole Edwards, Sarah Foster Jun 2024

A Typological Study Of The Provision And Use Of Communal Outdoor Space In Australian Apartment Developments, Julian Bolleter, Paula Hooper, Alex Kleeman, Nicole Edwards, Sarah Foster

Research outputs 2022 to 2026

There is a consensus that higher-density urban settings need to be accompanied by communal outdoor space (COS) to bolster the well-being of apartment residents. Nonetheless, there is a lack of studies identifying COS types in apartment buildings and systematically assessing the degree to which they provide greenery and are used by residents. In response, this study developed a COS typology for apartment buildings in Australian cities, measured the degree to which each COS type provides access to greenery, and examined which COS types received the most frequent visitation via a resident survey (n = 975). Results show that some dominant …


Development Of A Food Composition Database For The Estimation Of Dietary S-Methyl Cysteine Sulfoxide From Vegetables, Caroline R. Hill, Emma L. Connolly, Armaghan Shafaei, Lois Balmer, Liezhou Zhong, Taulant Muka, Antonietta Hayhoe, Shikha Saha, Richard J. Woodman, Joshua R. Lewis, Jonathan M. Hodgson, Lauren C. Blekkenhorst Jun 2024

Development Of A Food Composition Database For The Estimation Of Dietary S-Methyl Cysteine Sulfoxide From Vegetables, Caroline R. Hill, Emma L. Connolly, Armaghan Shafaei, Lois Balmer, Liezhou Zhong, Taulant Muka, Antonietta Hayhoe, Shikha Saha, Richard J. Woodman, Joshua R. Lewis, Jonathan M. Hodgson, Lauren C. Blekkenhorst

Research outputs 2022 to 2026

A food composition database estimating S-methyl cysteine sulfoxide (SMCSO) was created following a systematic literature search. SMCSO data (705 entries) from 19 vegetables were summarised: brassicas (n = 10) and alliums (n = 9). The highest SMCSO in brassicas was reported in Brussels sprouts (median [range]: 318 [68−420] mg/100 g fresh weight (FW)) whilst the lowest was in radish (19 [4–45] mg/100 g FW). Brussels sprouts were almost twice as concentrated in SMCSO as cauliflower, followed by cabbage, kale, broccoli, kohlrabi, swede, Chinese cabbage, and turnips. The alliums highest in SMCSO were Chinese chives (271 [185−413] mg/100 g FW) followed …


Development Of A Midwifery Student Peer Debriefing Tool: An Interpretive Descriptive Study, Kate Buchanan, Carolyn Ross, Dianne Bloxsome, Jen Hocking, Sara Bayes Jun 2024

Development Of A Midwifery Student Peer Debriefing Tool: An Interpretive Descriptive Study, Kate Buchanan, Carolyn Ross, Dianne Bloxsome, Jen Hocking, Sara Bayes

Research outputs 2022 to 2026

Background: Psychosocial traumatisation associated with giving birth, can occur in those present with the woman giving birth, a phenomenon known as vicarious trauma. It has been identified that there are currently no interventions available for midwifery students who have experienced vicarious trauma following difficult birth experiences. Objective: To explore whether the counselling intervention developed by Gamble et al. (2005), can be adapted for midwifery students to be appropriately and feasibly used as a counselling intervention with peers who have experienced midwifery practice-related vicarious trauma. Design: Interpretive descriptive methodology. Setting: This study was set at two Australian universities from which pre-registration …


Identification Of Circrna Biomarkers In Osteosarcoma: An Updated Systematic Review And Meta-Analysis, Chunbin Zhou, Lois Balmer, Manshu Song, Gehendra Mahara, Kezhou Wu, Wei Wang, Hu Wang Jun 2024

Identification Of Circrna Biomarkers In Osteosarcoma: An Updated Systematic Review And Meta-Analysis, Chunbin Zhou, Lois Balmer, Manshu Song, Gehendra Mahara, Kezhou Wu, Wei Wang, Hu Wang

Research outputs 2022 to 2026

Circular RNAs (circRNAs) play a crucial role in cancer development and progression. This study aimed to identify potential circRNA biomarkers for osteosarcoma. Articles published from January 2010 to September 2023 were searched across eight databases to compare circRNA expression profiles in osteosarcoma and control samples (human, animal and cell lines). Meta-analysis was conducted under a random effects model. Subgroup analysis of circRNAs in different samples and tissues was performed. Diagnostic value was evaluated using receiver operator characteristic curves. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis explored functions of circRNA host genes. A circRNA-miRNA-mRNA axis …


Protocol: Factors Influencing The Implementation Of Non-Pharmacological Interventions For Behaviours And Psychological Symptoms Of Dementia In Residential Aged Care Homes: A Systematic Review And Qualitative Evidence Synthesis, Hunduma D. Ayeno, Gizat M. M. Kassie, Mustafa Atee, Tuan Nguyen Jun 2024

Protocol: Factors Influencing The Implementation Of Non-Pharmacological Interventions For Behaviours And Psychological Symptoms Of Dementia In Residential Aged Care Homes: A Systematic Review And Qualitative Evidence Synthesis, Hunduma D. Ayeno, Gizat M. M. Kassie, Mustafa Atee, Tuan Nguyen

Research outputs 2022 to 2026

This is a protocol for a Cochrane Review. The objectives are as follows. This paper aims to describe a protocol for a systematic review that will synthesise the qualitative evidence regarding factors influencing the implementation of non-pharmacological interventions (NPIs) for behavioural and psychological symptoms of dementia (BPSD) management in residential aged care homes (RACHs). The planned systematic review aims to answer the research question: ‘What are the factors influencing the implementation of NPIs in the management of BPSD at RACHs?’. Additionally, the planned systematic review also aims to generate recommendations to guide stakeholders (e.g., clinicians and aged care staff) and …


The Contributions Of Executive Functioning To Handwritten And Keyboarded Compositions In Year 2 Children, Debora S. Valcan, Anabela Malpique, Deborah Pino-Pasternak, Mustafa Asil, Timothy Teo Jun 2024

The Contributions Of Executive Functioning To Handwritten And Keyboarded Compositions In Year 2 Children, Debora S. Valcan, Anabela Malpique, Deborah Pino-Pasternak, Mustafa Asil, Timothy Teo

Research outputs 2022 to 2026

Writing is a multifaceted skill, recruiting varied cognitive processes that involve working memory, attention shifting and inhibition, also known as executive functioning (EF). Despite emerging research examining associations between EF and handwritten composition, the mediating role of transcription skills on the relation between EF and text composition remains underexplored. Even less is understood about the nature of these potential mediation mechanisms in keyboard-based text composing, a writing modality that is becoming pervasive during the first years of schooling. This study investigated whether the automaticity of inscription skills (handwriting and keyboarding) and spelling mediate the relation between children's EF and text …


The Effect Of Dietary Interventions Or Patterns On The Cardiometabolic Health Of Individuals Treated With Androgen Deprivation Therapy For Prostate Cancer: A Systematic Review, Hattie H. Wright, Meegan A. Walker, Suzanne Broadbent, Corey Linton, Jacob J. Keech, Karina T. Rune, Cindy L. Davis, Michelle Morris, Anao Zhang, Robert U. Newton, Skye Marshall Jun 2024

The Effect Of Dietary Interventions Or Patterns On The Cardiometabolic Health Of Individuals Treated With Androgen Deprivation Therapy For Prostate Cancer: A Systematic Review, Hattie H. Wright, Meegan A. Walker, Suzanne Broadbent, Corey Linton, Jacob J. Keech, Karina T. Rune, Cindy L. Davis, Michelle Morris, Anao Zhang, Robert U. Newton, Skye Marshall

Research outputs 2022 to 2026

Prostate cancer survivors treated with androgen deprivation therapy may be at increased risk of cardiovascular disease. Dietary recommendations for the prevention and/or management of cardiovascular disease for these individuals are lacking. This review synthesizes the evidence on the effect of dietary interventions on cardiometabolic biomarkers and cardiovascular disease risk in prostate cancer survivors receiving androgen deprivation therapy. A systematic review was conducted across PubMed, CINAHL, Embase, and Cochrane CENTRAL. Intervention or observational cohort studies evaluating diets, nutrients, or nutraceuticals with or without concurrent exercise interventions on cardiovascular disease, cardiovascular events, or cardiovascular disease biomarkers in those treated with androgen deprivation …


A Follow-Up Study On The Clinical Impact Of Pre-Registration Extended Immersive Ward-Based Simulation, Hugh Davies, Sue Robertson, Deb Sundin, Elisabeth Jacob Jun 2024

A Follow-Up Study On The Clinical Impact Of Pre-Registration Extended Immersive Ward-Based Simulation, Hugh Davies, Sue Robertson, Deb Sundin, Elisabeth Jacob

Research outputs 2022 to 2026

Aim: To explore how extended immersive ward-based simulation influenced graduate nurses’ experiences six-months post-registration. Background: Graduates of nursing training programs are expected to enter the workforce meeting the role of a registered nurse. Extended immersive ward-based simulation has been adopted by nurse educators as a means of easing the transition to professional practice. To what degree transfer of learning occurs from these experiences is yet to be determined. Design: A qualitative descriptive design was used to conduct a series of face-to-face focus groups. Methods: Participants were nine former students who had participated in a series of ward-based simulation workshops before …


Ecological Momentary Assessment Of Digital Food And Beverage Marketing Exposure And Impact In Young Adults: A Feasibility Study, Clare Whitton, Yvonne H. M. Wong, Jerrald Lau, Xin H. Chua, Andre M. Müller, Chuen S. Tan, Rob M. Van Dam, Falk Müller-Riemenschneider, Salome A. Rebello Jun 2024

Ecological Momentary Assessment Of Digital Food And Beverage Marketing Exposure And Impact In Young Adults: A Feasibility Study, Clare Whitton, Yvonne H. M. Wong, Jerrald Lau, Xin H. Chua, Andre M. Müller, Chuen S. Tan, Rob M. Van Dam, Falk Müller-Riemenschneider, Salome A. Rebello

Research outputs 2022 to 2026

Unhealthy food marketing is contributing to the obesity epidemic, but real-time insights into the mechanisms of this relationship are under-studied. Digital marketing is growing and following food and beverage (F&B) brands on social media is common, but measurement of exposure and impact of such marketing presents novel challenges. Thus, this study aimed to evaluate the feasibility of collecting data on exposure and impact of digital F&B marketing (DFM) using a smartphone-based ecological momentary assessment (EMA) methodology. We hypothesized that DFM-induced food cravings would vary based on whether (or not) participants engaged with F&B brands online. Participants were Singapore residents (n …


Factors Impacting Nursing Assistants To Accept A Delegation In The Acute Care Settings: A Mixed Method Study, Carol Crevacore, Linda Coventry, Christine Duffield, Elisabeth Jacob Jun 2024

Factors Impacting Nursing Assistants To Accept A Delegation In The Acute Care Settings: A Mixed Method Study, Carol Crevacore, Linda Coventry, Christine Duffield, Elisabeth Jacob

Research outputs 2022 to 2026

Aims: To investigate the experience of nursing assistants being delegated nursing tasks by registered nurses. Design: Mixed method explanatory sequential design. Methods: A total of 79 nursing assistants working in an acute hospital in Australia completed surveys that aimed to identify their experience of working with nurses and the activities they were delegated. The survey data were analysed using descriptive statistics. Interviews with 11 nursing assistants were conducted and analysed using Braun and Clarke's thematic analysis. Results were triangulated to provide a richer understanding of the phenomena. Results: Most nursing assistants felt supported completing delegated care activities. However, there was …


Risk And Protective Factors Of Self-Harm And Suicidality In Adolescents: An Umbrella Review With Meta-Analysis, Rebecca Richardson, Tanya Connell, Mandie Foster, Julie Blamires, Smita Keshoor, Chris Moir, Irene S. Zeng Jun 2024

Risk And Protective Factors Of Self-Harm And Suicidality In Adolescents: An Umbrella Review With Meta-Analysis, Rebecca Richardson, Tanya Connell, Mandie Foster, Julie Blamires, Smita Keshoor, Chris Moir, Irene S. Zeng

Research outputs 2022 to 2026

Suicide remains the second most common cause of death in young people aged 10–24 years and is a growing concern globally. The literature reports a vast number of factors that can predispose an adolescent to suicidality at an individual, relational, community, or societal level. There is limited high-level research identifying and understanding these risk and protective factors of adolescent suicidality. The present study used an umbrella review and meta-analysis to synthesize evidence from the review literature in the past 20 years on risk and protective factors of self-harm and suicidality (behavior and ideation) in adolescents. The umbrella review included 33 …


Social Capital And Cost Of Debt: Evidence From Chinese Ceo Network Centrality, Yiping Chen, Yuan G. Shan, Jimin Wang, Xinxin Yang, Junru Zhang Jun 2024

Social Capital And Cost Of Debt: Evidence From Chinese Ceo Network Centrality, Yiping Chen, Yuan G. Shan, Jimin Wang, Xinxin Yang, Junru Zhang

Research outputs 2022 to 2026

Using a unique dataset comprising 6313 firm-year observations for Chinese listed firms between 2008 and 2017, we investigate the impact of CEO social capital on cost of debt. Our results show that CEO social capital is negatively related to cost of debt, and the impact of CEO social capital in environments with a low degree of marketization or social trust is more pronounced than in environments with a high degree of marketization or social trust. Moreover, our results reveal that two potential mechanisms, discretionary accruals and information disclosure quality, mediate the impact of CEO social capital on cost of debt.


Factors Associated With Poor Adherence To Medication In Patients With Diabetes And Hypertension In Peru: Findings From A Pooled Analysis Of Six Years Of Population-Based Surveys, Pablo M. Calderon-Ramirez, Edson Huamani-Merma, Mayu G. Mirano-Ortiz-De-Orue, Daniel Fernandez-Guzman, Carlos J. Toro-Huamanchumo Jun 2024

Factors Associated With Poor Adherence To Medication In Patients With Diabetes And Hypertension In Peru: Findings From A Pooled Analysis Of Six Years Of Population-Based Surveys, Pablo M. Calderon-Ramirez, Edson Huamani-Merma, Mayu G. Mirano-Ortiz-De-Orue, Daniel Fernandez-Guzman, Carlos J. Toro-Huamanchumo

Research outputs 2022 to 2026

Objective: To evaluate the factors associated with poor medication adherence in patients with DM and HTN in Peru. Study design: A cross-sectional study. Methods: We analyzed data from the Peruvian Demographic and Family Health Survey from 2014 to 2019. Adjusted prevalence ratios (aPR) and their respective 95% confidence intervals (CI) were estimated to determine the factors associated with poor medication adherence. Results: We included 15,184 participants with a known diagnosis of DM and HTN. The frequency of poor medication adherence was 37.1%, with 36.7% among individuals with HTN and 29.2% among individuals with DM. Those belonging to age groups above …


Sorghum Grain Polyphenolic Extracts Demonstrate Neuroprotective Effects Related To Alzheimer’S Disease In Cellular Assays Sorghum Grain Polyphenolic Extracts Demonstrate Neuroprotective Effects Related To Alzheimer’S Disease In Cellular Assays, Nasim Rezaee, Eugene Hone, Hamid R. Sohrabi, Stuart Johnson, Leizhou Zhong, Prakhar Chatur, Stuart Gunzburg, Ralph N. Martins, W. M.A.D.Binosha Fernando Jun 2024

Sorghum Grain Polyphenolic Extracts Demonstrate Neuroprotective Effects Related To Alzheimer’S Disease In Cellular Assays Sorghum Grain Polyphenolic Extracts Demonstrate Neuroprotective Effects Related To Alzheimer’S Disease In Cellular Assays, Nasim Rezaee, Eugene Hone, Hamid R. Sohrabi, Stuart Johnson, Leizhou Zhong, Prakhar Chatur, Stuart Gunzburg, Ralph N. Martins, W. M.A.D.Binosha Fernando

Research outputs 2022 to 2026

Sorghum grain contains high levels and a diverse profile of polyphenols (PPs), which are antioxidants known to reduce oxidative stress when consumed in the diet. Oxidative stress leading to amyloid-β (Aβ) aggregation, neurotoxicity, and mitochondrial dysfunction is implicated in the pathogenesis of Alzheimer’s disease (AD). Thus, PPs have gained attention as possible therapeutic agents for combating AD. This study aimed to (a) quantify the phenolic compounds (PP) and antioxidant capacities in extracts from six different varieties of sorghum grain and (b) investigate whether these PP extracts exhibit any protective effects on human neuroblastoma (BE(2)-M17) cells against Aβ- and tau-induced toxicity, …


Unresectable Cardiac Metastasis From Melanoma Responds Well To Combination Immunotherapy - A Case Report, Ek Leone Oh, Peter Dias, Zeyad Al-Ogaili, Jacobus Otto, Lydia Warburton Jun 2024

Unresectable Cardiac Metastasis From Melanoma Responds Well To Combination Immunotherapy - A Case Report, Ek Leone Oh, Peter Dias, Zeyad Al-Ogaili, Jacobus Otto, Lydia Warburton

Research outputs 2022 to 2026

Background: Melanoma can metastasize to distal organs including the heart although presentation with a symptomatic cardiac metastasis is rare. The optimal management remains uncertain particularly in the era of immunotherapy. Case summary: We report a case presenting with a large unresectable cardiac metastasis from melanoma that responded well to treatment with immunotherapy. Conclusion: Melanoma can metastasize to the heart and is often challenging to diagnose. Combination immunotherapy can be an effective treatment option even in the setting of a symptomatic and unresectable cardiac metastasis.


High Rates Of Erosion On A Wave-Exposed Fringing Coral Reef, Damian P. Thomson, Shannon Dee, Christopher Doropoulos, Melanie Orr, Shaun K. Wilson, Andrew S. Hoey Jun 2024

High Rates Of Erosion On A Wave-Exposed Fringing Coral Reef, Damian P. Thomson, Shannon Dee, Christopher Doropoulos, Melanie Orr, Shaun K. Wilson, Andrew S. Hoey

Research outputs 2022 to 2026

Erosion is a key process in shaping the physical structure of coral reefs, yet due to erosion being semi-cryptic and difficult to quantify, information remains limited. Here, we investigate erosional processes along Ningaloo Reef, an extensive fringing coral reef in Western Australia. We employed both direct and indirect methods to measure erosion in wave-exposed reef slopes and protected lagoonal habitats. Direct measurements of erosion on coral blocks were among the highest found globally, with total erosion of 3.07 kg m−2 yr−1 (4% from micro, 0.6% from macro, and 94% from external), whilst indirect rates were estimated at 2.4 ± 0.20 …


Things To Keep In Mind When Selecting Physical Assessments In Youth Soccer: Correlations Between Test Performances, Interlimb Asymmetries, And Effects Of Maturation, Francisco Javier Robles-Palazón, John J. Mcmahon, Francisco Ayala, Paul Comfort Jun 2024

Things To Keep In Mind When Selecting Physical Assessments In Youth Soccer: Correlations Between Test Performances, Interlimb Asymmetries, And Effects Of Maturation, Francisco Javier Robles-Palazón, John J. Mcmahon, Francisco Ayala, Paul Comfort

Research outputs 2022 to 2026

A range of field-based tests have been proposed for inclusion in physical performance assessment batteries. However, there are obvious time and human resources constraints in applied settings. The knowledge of potential relationships between tests on performance, asymmetries, as well as maturation-induced changes, may help select the most informative and least time-consuming testing battery. The purposes of this study were: (1) to determine correlations in performance between different field-based tests, in interlimb asymmetry between those unilateral tests, and between asymmetry scores and test performances, and (2) to determine the influence of players’ maturity status on test performances and asymmetries. A total …


Atp1a3 Disease Spectrum Includes Paroxysmal Weakness And Encephalopathy Not Triggered By Fever, Chetan Immanneni, Daniel Calame, Song Jiao, Lisa T Emrick, Miguel Holmgren, Sho T Yano Jun 2024

Atp1a3 Disease Spectrum Includes Paroxysmal Weakness And Encephalopathy Not Triggered By Fever, Chetan Immanneni, Daniel Calame, Song Jiao, Lisa T Emrick, Miguel Holmgren, Sho T Yano

Faculty, Staff and Students Publications

BACKGROUND AND OBJECTIVES: Heterozygous pathogenic variants in ATP1A3, which encodes the catalytic alpha subunit of neuronal Na+/K+-ATPase, cause primarily neurologic disorders with widely variable features that can include episodic movement deficits. One distinctive presentation of ATP1A3-related disease is recurrent fever-triggered encephalopathy. This can occur with generalized weakness and/or ataxia and is described in the literature as relapsing encephalopathy with cerebellar ataxia. This syndrome displays genotype-phenotype correlation with variants at p.R756 causing temperature sensitivity of ATP1A3. We report clinical and in vitro functional evidence for a similar phenotype not triggered by fever but associated with protein loss-of-function.

METHODS: We …


Generation Of A Humanized Mace2 And A Conditional Hace2 Mouse Models Permissive To Sars-Cov-2 Infection, I-Wen Song, Megan Washington, Carolina Leynes, Jason Hsu, Kempaiah Rayavara, Yangjin Bae, Nele Haelterman, Yuqing Chen, Ming-Ming Jiang, Aleksandra Drelich, Vivian Tat, Denise G Lanza, Isabel Lorenzo, Jason D Heaney, Chien-Te Kent Tseng, Brendan Lee, Ronit Marom Jun 2024

Generation Of A Humanized Mace2 And A Conditional Hace2 Mouse Models Permissive To Sars-Cov-2 Infection, I-Wen Song, Megan Washington, Carolina Leynes, Jason Hsu, Kempaiah Rayavara, Yangjin Bae, Nele Haelterman, Yuqing Chen, Ming-Ming Jiang, Aleksandra Drelich, Vivian Tat, Denise G Lanza, Isabel Lorenzo, Jason D Heaney, Chien-Te Kent Tseng, Brendan Lee, Ronit Marom

Faculty, Staff and Students Publications

The Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) remains a public health concern and a subject of active research effort. Development of pre-clinical animal models is critical to study viral-host interaction, tissue tropism, disease mechanisms, therapeutic approaches, and long-term sequelae of infection. Here, we report two mouse models for studying SARS-CoV-2: A knock-in mAce2F83Y,H353K mouse that expresses a mouse-human hybrid form of the angiotensin-converting enzyme 2 (ACE2) receptor under the endogenous mouse Ace2 promoter, and a Rosa26 conditional knock-in mouse carrying the human ACE2 allele (Rosa26hACE2). Although the mAce2F83Y,H353K mice were susceptible to …


Serum Extracellular Vesicle Protein Profiling For Prediction Of Corneal Transplant Rejection, Hyun Ju Lee, Eun-Hye Bae, Jong Min Choi, Hyemee Kim, Hyeon Ji Kim, Heather Barreda, Sung Yun Jung, Joo Youn Oh, Ryang Hwa Lee Jun 2024

Serum Extracellular Vesicle Protein Profiling For Prediction Of Corneal Transplant Rejection, Hyun Ju Lee, Eun-Hye Bae, Jong Min Choi, Hyemee Kim, Hyeon Ji Kim, Heather Barreda, Sung Yun Jung, Joo Youn Oh, Ryang Hwa Lee

Faculty, Staff and Students Publications

Background: Corneal transplantation is the most common transplant procedure worldwide. Despite immune and angiogenic privilege of the cornea, 50% to 70% of corneal transplants fail in high-risk recipients, primarily because of immune rejection. Therefore, it is crucial to identify predictive biomarkers of rejection to improve transplant survival.

Methods: In search for predictive biomarkers, we performed proteomics analysis of serum extracellular vesicles (EVs) in a fully major histocompatibility complex-mismatched (C57BL/6-to-BALB/c) murine corneal transplantation model, wherein 50% of transplants undergo rejection by day 28 following transplantation.

Results: Our time course study revealed a decrease in the number of serum EVs on day …


Expanding The Phenotype Of Ppp1r21-Related Neurodevelopmental Disorder, Mohammed Almannai, Dana Marafi, Maha S Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W El-Hattab Jun 2024

Expanding The Phenotype Of Ppp1r21-Related Neurodevelopmental Disorder, Mohammed Almannai, Dana Marafi, Maha S Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W El-Hattab

Faculty, Staff and Students Publications

PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of …


Seeing Beyond Reality: Considering The Impact Of Mainstream Virtual Reality Adoption On Ocular Health And The Evolving Role Of Ophthalmologists, Venkata Soumith Jonnakuti, Benjamin Jay Frankfort Jun 2024

Seeing Beyond Reality: Considering The Impact Of Mainstream Virtual Reality Adoption On Ocular Health And The Evolving Role Of Ophthalmologists, Venkata Soumith Jonnakuti, Benjamin Jay Frankfort

Faculty, Staff and Students Publications

No abstract provided.


Individual Disruption Of 12 Testis-Enriched Genes Via The Crispr/Cas9 System Does Not Affect The Fertility Of Male Mice, Akira Suzuki, Norikazu Yabuta, Keisuke Shimada, Daisuke Mashiko, Keizo Tokuhiro, Yuki Oyama, Haruhiko Miyata, Thomas X Garcia, Martin M Matzuk, Masahito Ikawa Jun 2024

Individual Disruption Of 12 Testis-Enriched Genes Via The Crispr/Cas9 System Does Not Affect The Fertility Of Male Mice, Akira Suzuki, Norikazu Yabuta, Keisuke Shimada, Daisuke Mashiko, Keizo Tokuhiro, Yuki Oyama, Haruhiko Miyata, Thomas X Garcia, Martin M Matzuk, Masahito Ikawa

Faculty, Staff and Students Publications

More than 1200 genes have been shown in the database to be expressed predominantly in the mouse testes. Advances in genome editing technologies such as the CRISPR/Cas9 system have made it possible to create genetically engineered mice more rapidly and efficiently than with conventional methods, which can be utilized to screen genes essential for male fertility by knocking out testis-enriched genes. Finding such genes related to male fertility would not only help us understand the etiology of human infertility but also lead to the development of male contraceptives. In this study, we generated knockout mice for 12 genes (Acrv1, Adgrf3, …


Continuous Renal Replacement Therapy: Current State And Future Directions For Worldwide Practice, Katja M Gist, Dana Y Fuhrman, Akash Deep, Taiki Haga, Demet Demirkol, Michael J Bell, Ayse Akcan-Arikan Jun 2024

Continuous Renal Replacement Therapy: Current State And Future Directions For Worldwide Practice, Katja M Gist, Dana Y Fuhrman, Akash Deep, Taiki Haga, Demet Demirkol, Michael J Bell, Ayse Akcan-Arikan

Faculty, Staff and Students Publications

No abstract provided.


Associations Of Testosterone And Related Hormones With All-Cause And Cardiovascular Mortality And Incident Cardiovascular Disease In Men : Individual Participant Data Meta-Analyses, Bu B Yeap, Ross J Marriott, Girish Dwivedi, Robert J Adams, Leen Antonio, Christie M Ballantyne, Douglas C Bauer, Shalender Bhasin, Mary L Biggs, Peggy M Cawthon, David J Couper, Adrian S Dobs, Leon Flicker, David J Handelsman, Graeme J Hankey, Anke Hannemann, Robin Haring, Benjumin Hsu, Sean A Martin, Alvin M Matsumoto, Dan Mellström, Claes Ohlsson, Terence W O'Neill, Eric S Orwoll, Matteo Quartagno, Molly M Shores, Antje Steveling, Åsa Tivesten, Thomas G Travison, Dirk Vanderschueren, Gary A Wittert, Frederick C W Wu, Kevin Murray Jun 2024

Associations Of Testosterone And Related Hormones With All-Cause And Cardiovascular Mortality And Incident Cardiovascular Disease In Men : Individual Participant Data Meta-Analyses, Bu B Yeap, Ross J Marriott, Girish Dwivedi, Robert J Adams, Leen Antonio, Christie M Ballantyne, Douglas C Bauer, Shalender Bhasin, Mary L Biggs, Peggy M Cawthon, David J Couper, Adrian S Dobs, Leon Flicker, David J Handelsman, Graeme J Hankey, Anke Hannemann, Robin Haring, Benjumin Hsu, Sean A Martin, Alvin M Matsumoto, Dan Mellström, Claes Ohlsson, Terence W O'Neill, Eric S Orwoll, Matteo Quartagno, Molly M Shores, Antje Steveling, Åsa Tivesten, Thomas G Travison, Dirk Vanderschueren, Gary A Wittert, Frederick C W Wu, Kevin Murray

Faculty, Staff and Students Publications

Background: Whether circulating sex hormones modulate mortality and cardiovascular disease (CVD) risk in aging men is controversial.

Purpose: To clarify associations of sex hormones with these outcomes.

Data sources: Systematic literature review to July 2019, with bridge searches to March 2024.

Study selection: Prospective cohort studies of community-dwelling men with sex steroids measured using mass spectrometry and at least 5 years of follow-up.

Data extraction: Independent variables were testosterone, sex hormone-binding globulin (SHBG), luteinizing hormone (LH), dihydrotestosterone (DHT), and estradiol concentrations. Primary outcomes were all-cause mortality, CVD death, and incident CVD events. Covariates included age, body mass index, marital status, …


Racial And Ethnic Disparities In Cardiovascular Disease – Analysis Across Major Us National Databases, Abdul Mannan Khan Minhas, Khawaja M Talha, Dmitry Abramov, Heather M Johnson, Steve Antoine, Fatima Rodriguez, Marat Fudim, Erin D Michos, Arunima Misra, Layla Abushamat, Vijay Nambi, Gregg C Fonarow, Christie M Ballantyne, Salim S Virani Jun 2024

Racial And Ethnic Disparities In Cardiovascular Disease – Analysis Across Major Us National Databases, Abdul Mannan Khan Minhas, Khawaja M Talha, Dmitry Abramov, Heather M Johnson, Steve Antoine, Fatima Rodriguez, Marat Fudim, Erin D Michos, Arunima Misra, Layla Abushamat, Vijay Nambi, Gregg C Fonarow, Christie M Ballantyne, Salim S Virani

Faculty, Staff and Students Publications

Background: There are several studies that have analyzed disparities in cardiovascular disease (CVD) health using a variety of different administrative databases; however, a unified analysis of major databases does not exist. In this analysis of multiple publicly available datasets, we sought to examine racial and ethnic disparities in different aspects of CVD, CVD-related risk factors, CVD-related morbidity and mortality, and CVD trainee representation in the US.

Methods: We used National Health and Nutrition Examination Survey, National Ambulatory Medical Care Survey, National Inpatient Sample, Centers for Disease Control and Prevention Wide-Ranging OnLine Data for Epidemiologic Research, United Network for Organ Sharing, …


Integrative Genomic And Transcriptomic Profiling Of Pulmonary Sarcomatoid Carcinoma Identifies Molecular Subtypes Associated With Distinct Immune Features And Clinical Outcomes, Sahil Seth, Runzhe Chen, Yang Liu, Junya Fujimoto, Lingzhi Hong, Alexandre Reuben, Susan Varghese, Carmen Behrens, Tina Mcdowell, Luisa Solis Soto, Cara Haymaker, Annikka Weissferdt, Neda Kalhor, Jia Wu, Xiuning Le, Natalie I Vokes, Chao Cheng, John V Heymach, Don L Gibbons, P Andrew Futreal, Ignacio I Wistuba, Humam Kadara, Jianhua Zhang, Cesar Moran, Jianjun Zhang Jun 2024

Integrative Genomic And Transcriptomic Profiling Of Pulmonary Sarcomatoid Carcinoma Identifies Molecular Subtypes Associated With Distinct Immune Features And Clinical Outcomes, Sahil Seth, Runzhe Chen, Yang Liu, Junya Fujimoto, Lingzhi Hong, Alexandre Reuben, Susan Varghese, Carmen Behrens, Tina Mcdowell, Luisa Solis Soto, Cara Haymaker, Annikka Weissferdt, Neda Kalhor, Jia Wu, Xiuning Le, Natalie I Vokes, Chao Cheng, John V Heymach, Don L Gibbons, P Andrew Futreal, Ignacio I Wistuba, Humam Kadara, Jianhua Zhang, Cesar Moran, Jianjun Zhang

Faculty, Staff and Student Publications

BACKGROUND: Pulmonary sarcomatoid carcinoma (PSC) is a rare and aggressive subtype of non-small cell lung cancer (NSCLC), characterized by the presence of epithelial and sarcoma-like components. The molecular and immune landscape of PSC has not been well defined.

METHODS: Multiomics profiling of 21 pairs of PSCs with matched normal lung tissues was performed through targeted high-depth DNA panel, whole-exome, and RNA sequencing. We describe molecular and immune features that define subgroups of PSC with disparate genomic and immunogenic features as well as distinct clinical outcomes.

RESULTS: In total, 27 canonical cancer gene mutations were identified, with

CONCLUSIONS: We provided detailed …


Persistent ∆Fosb Expression Limits Recurrent Seizure Activity And Provides Neuroprotection In The Dentate Gyrus Of App Mice, Gabriel S Stephens, Jin Park, Andrew Eagle, Jason You, Manuel Silva-Pérez, Chia-Hsuan Fu, Sumin Choi, Corey P St Romain, Chiho Sugimoto, Shelly A Buffington, Yi Zheng, Mauro Costa-Mattioli, Yin Liu, A J Robison, Jeannie Chin Jun 2024

Persistent ∆Fosb Expression Limits Recurrent Seizure Activity And Provides Neuroprotection In The Dentate Gyrus Of App Mice, Gabriel S Stephens, Jin Park, Andrew Eagle, Jason You, Manuel Silva-Pérez, Chia-Hsuan Fu, Sumin Choi, Corey P St Romain, Chiho Sugimoto, Shelly A Buffington, Yi Zheng, Mauro Costa-Mattioli, Yin Liu, A J Robison, Jeannie Chin

Faculty, Staff and Student Publications

Recurrent seizures lead to accumulation of the activity-dependent transcription factor ∆FosB in hippocampal dentate granule cells in both mouse models of epilepsy and mouse models of Alzheimer's disease (AD), which is also associated with increased incidence of seizures. In patients with AD and related mouse models, the degree of ∆FosB accumulation corresponds with increasing severity of cognitive deficits. We previously found that ∆FosB impairs spatial memory in mice by epigenetically regulating expression of target genes such as calbindin that are involved in synaptic plasticity. However, the suppression of calbindin in conditions of neuronal hyperexcitability has been demonstrated to provide neuroprotection …


The Association Of Self-Reported Sleep And Circadian Measures With Glycemic Control And Diabetes Complications Among Young Adults With Type 2 Diabetes, Dorit Koren, Kristen L Knutson, Brian K Burke, Kimberly L Drews, Fida Bacha, Lorraine Katz, Marsha D Marcus, Siripoom Mckay, Kristen Nadeau, Babak Mokhlesi, Today Study Group Jun 2024

The Association Of Self-Reported Sleep And Circadian Measures With Glycemic Control And Diabetes Complications Among Young Adults With Type 2 Diabetes, Dorit Koren, Kristen L Knutson, Brian K Burke, Kimberly L Drews, Fida Bacha, Lorraine Katz, Marsha D Marcus, Siripoom Mckay, Kristen Nadeau, Babak Mokhlesi, Today Study Group

Children’s Nutrition Research Center Staff Publications

We aim to examine the association of sleep duration, sleep quality, late chronotype, and circadian misalignment with glycemic control and risk of complications in young adults with youth-onset type 2 diabetes followed in the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) study. Self-reported sleep duration, quality, timing, and circadian misalignment were assessed via a modified Pittsburgh Sleep Quality Index (PSQI) questionnaire, and chronotype was assessed via the Morningness-Eveningness Questionnaire (MEQ). We examined diabetes complications including loss of glycemic control (defined as hemoglobin A1c ≥8%), hypertension, dyslipidemia, albuminuria, and diabetic peripheral neuropathy. Multivariable logistic regression models were …


Exploring Cybertechnology Standards Through Bibliometrics: Case Of National Institute Of Standards And Technology, Tugrul Daim, Haydar Yalcin, Alain Mermoud, Valentin Mulder Jun 2024

Exploring Cybertechnology Standards Through Bibliometrics: Case Of National Institute Of Standards And Technology, Tugrul Daim, Haydar Yalcin, Alain Mermoud, Valentin Mulder

Engineering and Technology Management Faculty Publications and Presentations

Cyber security is one of the topics that gain importance today. It is necessary to determine the basic components, basic dynamics, and main actors of the Cyber security issue, which is obvious that it will have an impact in many areas from social, social, economic, environmental, and political aspects, as a hot research topic. When the subject literature is examined, it has become a trend-forming research subject followed by institutions and organizations that produce R&D policy, starting from the level of governments. In this study, cybersecurity research is examined in the context of 5 basic cyber security functions specified in …