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2024

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Data Security And User Authentication In Public Cloud Computing Environments, Nelson Vasconcelos Soares Dos Santos Jan 2024

Data Security And User Authentication In Public Cloud Computing Environments, Nelson Vasconcelos Soares Dos Santos

School of Engineering, Computing and Mathematics Theses

Cloud computing has become a prevalent paradigm for organisations and individuals, offering a range of services and resources that enable the efficient management, processing and storage of large quantities of data. However, despite its numerous advantages, cloud computing also presents significant challenges related to data security and user authentication. The distributed nature of cloud environments, coupled with the relinquishment of control over data to cloud service providers, has raised concerns regarding data vulnerability to various types of attacks, such as data breaches, malware injection, and denial of service. Moreover, traditional password and token-based authentication methods have been shown to be …


Pop-Up Books, Magic, And Health, John Kilburn Jan 2024

Pop-Up Books, Magic, And Health, John Kilburn

School of Art, Design and Architecture

No abstract provided.


Welcoming 2024: Supporting Students' Well-Being, Eric A Storch, Rick Yang Jan 2024

Welcoming 2024: Supporting Students' Well-Being, Eric A Storch, Rick Yang

Faculty, Staff and Students Publications

No abstract provided.


Gut Pathobiont Enrichment Observed In A Population Predisposed To Dementia, Type 2 Diabetics Of Mexican Descent Living In South Texas, Lisa M Matz, Nisarg S Shah, Laura Porterfield, Olivia M Stuyck, Michael D Jochum, Rakez Kayed, Giulio Taglialatela, Randall J Urban, Shelly A Buffington Jan 2024

Gut Pathobiont Enrichment Observed In A Population Predisposed To Dementia, Type 2 Diabetics Of Mexican Descent Living In South Texas, Lisa M Matz, Nisarg S Shah, Laura Porterfield, Olivia M Stuyck, Michael D Jochum, Rakez Kayed, Giulio Taglialatela, Randall J Urban, Shelly A Buffington

Faculty, Staff and Students Publications

Type 2 diabetes (T2D) is a common forerunner of neurodegeneration and accompanying dementia, including Alzheimer's Disease (AD), yet the mechanisms underlying this comorbidity remain unresolved. Individuals of Mexican descent living in South Texas have increased prevalence of comorbid T2D and early onset AD, despite low incidence of the APOE-ε4 risk variant among the population and an absence of a similar predisposition among relatives residing in Mexico - suggesting a role for environmental factors in coincident T2D and AD susceptibility. We therefore sought to test if differences in gut community structure could be observed in this population prior to any AD …


Evaluating The Implementation Of A Relationship-Centered Communication Training For Connecting With Patients In Virtual Visits, Rachyl Pines, Marie C. Haverfield, Stephanie Wong Chen, Ethan Lee, Cati Brown-Johnson, Merisa Kline, Barbette Weimer-Elder Jan 2024

Evaluating The Implementation Of A Relationship-Centered Communication Training For Connecting With Patients In Virtual Visits, Rachyl Pines, Marie C. Haverfield, Stephanie Wong Chen, Ethan Lee, Cati Brown-Johnson, Merisa Kline, Barbette Weimer-Elder

Faculty Research, Scholarly, and Creative Activity

The use of telehealth, specifically virtual visits, has increased and adoption continues. Providers need effective training for how to communicate with patients to develop a connection during virtual visits. This article describes the implementation and evaluation of a course called Mastering Presence in Virtual Visits. Results show that although providers perceive lack of time, technology issues, and lacking experiential knowledge as barriers to enacting course behaviors, the course was feasible and acceptable. Following the course, providers rated key course behaviors as helpful for practice, and 80.7% of providers were likely to recommend the course to a colleague. The course shifted …


Interest In Over-The-Counter Progestin-Only Pills Among Transgender, Nonbinary, And Gender-Expansive Individuals In The United States, Kate Grindlay, Juno Obedin-Maliver, Sachiko Ragosta, Jen Hastings, Mitchell R. Lunn, Annesa Flentje, Matthew R. Capriotti, Zubin Dastur, Micah E. Lubensky, Heidi Moseson Jan 2024

Interest In Over-The-Counter Progestin-Only Pills Among Transgender, Nonbinary, And Gender-Expansive Individuals In The United States, Kate Grindlay, Juno Obedin-Maliver, Sachiko Ragosta, Jen Hastings, Mitchell R. Lunn, Annesa Flentje, Matthew R. Capriotti, Zubin Dastur, Micah E. Lubensky, Heidi Moseson

Faculty Research, Scholarly, and Creative Activity

Background: In July 2023, the US Food and Drug Administration approved the first nonprescription oral contraceptive, a progestin-only pill, in the United States. Transgender, nonbinary, and gender-expansive people assigned female or intersex at birth face substantial contraceptive access barriers and may benefit from over-the-counter oral contraceptive access. However, no previous research has explored their perspectives on this topic. Objective: This study aimed to measure interest in over-the-counter progestin-only pill use among transgender, nonbinary, and gender-expansive individuals assigned female or intersex at birth. Study Design: We conducted an online, cross-sectional survey from May to September 2019 (before the US Food and …


Fuzzy Similarity Analysis Of Effective Training Samples To Improve Machine Learning Estimations Of Water Quality Parameters Using Sentinel-2 Remote Sensing Data, Alireza Taheri Dehkordi, Mohammad Javad Valadan Zoej, Ali Mehran, Mohsen Jafari, Amir Masoud Chegoonian Jan 2024

Fuzzy Similarity Analysis Of Effective Training Samples To Improve Machine Learning Estimations Of Water Quality Parameters Using Sentinel-2 Remote Sensing Data, Alireza Taheri Dehkordi, Mohammad Javad Valadan Zoej, Ali Mehran, Mohsen Jafari, Amir Masoud Chegoonian

Faculty Research, Scholarly, and Creative Activity

Continuous monitoring of water quality parameters (WQPs) is crucial due to the global degradation of water quality, primarily caused by climate change and population growth. Typically, machine learning (ML) models are employed to retrieve WQPs, but they require a large amount of training samples to accurately capture the data relationships. Even with sufficient training data, discrepancies still exist between values of predicted and in-situ WQPs. This study proposes a fuzzy similarity analysis (FSA) technique to enhance ML estimates of WQPs by using the prediction errors in effective training samples. The method was successfully applied to retrieve turbidity (Turb) and specific …


Potential Use Of Poultry Farms By Wild Waterfowl In California's Central Valley Varies Across Space, Times Of Day, And Species: Implications For Influenza Transmission Risk, Claire S. Teitelbaum, Michael L. Casazza, Cory T. Overton, Jeffery D. Sullivan, Elliott L. Matchett, Fiona Mcduie, Austen A. Lorenz, Joshua T. Ackerman, Susan E.W. De La Cruz, Diann J. Prosser Jan 2024

Potential Use Of Poultry Farms By Wild Waterfowl In California's Central Valley Varies Across Space, Times Of Day, And Species: Implications For Influenza Transmission Risk, Claire S. Teitelbaum, Michael L. Casazza, Cory T. Overton, Jeffery D. Sullivan, Elliott L. Matchett, Fiona Mcduie, Austen A. Lorenz, Joshua T. Ackerman, Susan E.W. De La Cruz, Diann J. Prosser

Faculty Research, Scholarly, and Creative Activity

Interactions between wildlife and livestock can lead to cross-species disease transmission, which incurs economic costs and threatens wildlife conservation. Wild waterfowl are natural hosts of avian influenza viruses (AIVs), are often abundant near poultry farms, and have been linked to outbreaks of AIVs in poultry. Interspecific and seasonal variation in waterfowl movement and habitat use means that the risk of disease transmission between wild birds and poultry inevitably varies across species, space, and time. Here, we used GPS telemetry data from 10 waterfowl species in and near California's Central Valley, a region where both wild waterfowl and domestic poultry are …


Selective Partitioned Regression For Accurate Kidney Health Monitoring, Alex Whelan, Ragwa Elsayed, Alessandro Bellofiore, David C. Anastasiu Jan 2024

Selective Partitioned Regression For Accurate Kidney Health Monitoring, Alex Whelan, Ragwa Elsayed, Alessandro Bellofiore, David C. Anastasiu

Faculty Research, Scholarly, and Creative Activity

The number of people diagnosed with advanced stages of kidney disease have been rising every year. Early detection and constant monitoring are the only minimally invasive means to prevent severe kidney damage or kidney failure. We propose a cost-effective machine learning-based testing system that can facilitate inexpensive yet accurate kidney health checks. Our proposed framework, which was developed into an iPhone application, uses a camera-based bio-sensor and state-of-the-art classical machine learning and deep learning techniques for predicting the concentration of creatinine in the sample, based on colorimetric change in the test strip. The predicted creatinine concentration is then used to …


Access To Digital Finance: Equity Crowdfunding Across Countries And Platforms, Saul Estrin, Susanna Khavul, Alexander S. Kritikos, Jonas Löher Jan 2024

Access To Digital Finance: Equity Crowdfunding Across Countries And Platforms, Saul Estrin, Susanna Khavul, Alexander S. Kritikos, Jonas Löher

Faculty Research, Scholarly, and Creative Activity

Financing entrepreneurship spurs innovation and economic growth. Digital financial platforms that crowdfund equity for entrepreneurs have emerged globally, yet they remain poorly understood. We model equity crowdfunding in terms of the relationship between the number of investors and the amount of money raised per pitch. We examine heterogeneity in the average amount raised per pitch that is associated with differences across three countries and seven platforms. Using a novel dataset of successful fundraising on the most prominent platforms in the UK, Germany, and the USA, we find the underlying relationship between the number of investors and the amount of money …


Emergency And Disaster Preparedness For Individuals Who Use Augmentative And Alternative Communication: A Pilot Study On Supported Planning Using A Toolkit, Andrea Barton-Hulsey, Miriam C. Boesch, Yoosun Chung, Tina Caswell, Amy Miller Sonntag, Wendy Quach Jan 2024

Emergency And Disaster Preparedness For Individuals Who Use Augmentative And Alternative Communication: A Pilot Study On Supported Planning Using A Toolkit, Andrea Barton-Hulsey, Miriam C. Boesch, Yoosun Chung, Tina Caswell, Amy Miller Sonntag, Wendy Quach

Faculty Research, Scholarly, and Creative Activity

Purpose: When emergencies or disasters arise, individuals who use augmenta-tive and alternative communication (AAC) are particularly vulnerable. It is critical that individuals who use AAC are supported to make decisions that impact their own lives and are able to communicate during such a crisis. Preparedness efforts that include a plan around communication needs and supports are necessary for ensuring that individuals who use AAC are able to understand options that ensure personal safety and express their needs during a time of crisis. Method: Qualitative methods were used to identify and describe the experi-ences of two young adults who use AAC …


The Effect Of A Night Shift Nap On Post-Night Shift Performance, Sleepiness, Mood, And First Recovery Sleep: A Randomized Crossover Trial, P. Daniel Patterson, Cassie J. Hilditch, Matthew D. Weaver, David G.L. Roach, Tiffany S. Okerman, Sarah E. Martin, Charity G. Patterson, Leonard S. Weiss Jan 2024

The Effect Of A Night Shift Nap On Post-Night Shift Performance, Sleepiness, Mood, And First Recovery Sleep: A Randomized Crossover Trial, P. Daniel Patterson, Cassie J. Hilditch, Matthew D. Weaver, David G.L. Roach, Tiffany S. Okerman, Sarah E. Martin, Charity G. Patterson, Leonard S. Weiss

Faculty Research, Scholarly, and Creative Activity

Objectives This study aimed to test the effect of a 30-minute nap versus a 2-hour nap opportunity taken during a simulated night shift on performance, fatigue, sleepiness, mood, and sleep at the end of shift and during post-night shift recovery. Methods We conducted a randomized crossover trial of three nap conditions (30-minute, 2-hour, and no-nap) during 12-hour simulated night shifts. We tested for differences in performance, fatigue, sleepiness, mood, and sleep during in-lab and at-home recovery. Performance was measured with the Brief Psychomotor Vigilance Test (PVT-B). Subjective ratings were assessed with single-item surveys. Results Twenty-eight individuals consented to participate [mean …


Co-Producing Ethics Guidelines Together With People With Learning Disabilities, Mary Bottomley, Jodie Bradley, Lisa Clark, Bryan Collis, Bojana Daw Srdanovic, Victoria Farnsworth, Annie Ferguson, Dan Goodley, Andrew Fox, Nikita K. Hayden, Charlotte Lawthom, Rebecca Lawthom, Claudia Magwood, Robert Mclean, Ian Middleton, Alison Owen, Matty Prothero, Simon Rice, Simon Richards, Katherine Runswick-Cole, Kelly Scargill, Rohit Shankar, Toni Ann Wood Jan 2024

Co-Producing Ethics Guidelines Together With People With Learning Disabilities, Mary Bottomley, Jodie Bradley, Lisa Clark, Bryan Collis, Bojana Daw Srdanovic, Victoria Farnsworth, Annie Ferguson, Dan Goodley, Andrew Fox, Nikita K. Hayden, Charlotte Lawthom, Rebecca Lawthom, Claudia Magwood, Robert Mclean, Ian Middleton, Alison Owen, Matty Prothero, Simon Rice, Simon Richards, Katherine Runswick-Cole, Kelly Scargill, Rohit Shankar, Toni Ann Wood

Peninsula Medical School

Background: We are a research team of clinical, academic and advocacy-based researchers with and without learning disabilities, working on the Humanising Healthcare (for people with learning disabilities) project. The project is dedicated to finding and sharing healthcare practices that enhance the lives of people with learning disabilities. As part of our ethics applications to access National Health Service study sites for fieldwork, we worked together to write guiding principles for co-producing research ethics with researchers with learning disabilities. In this paper, we introduce these Participatory Ethics Good Practice Guidelines and reflect on our collaboration. Methods: We reflect on developing the …


Perioperative Oxygenation—What's The Stress?, Joseph Larvin, Mark Edwards, Daniel S. Martin, Martin Feelisch, Michael P.W. Grocott, Andrew F. Cumpstey Jan 2024

Perioperative Oxygenation—What's The Stress?, Joseph Larvin, Mark Edwards, Daniel S. Martin, Martin Feelisch, Michael P.W. Grocott, Andrew F. Cumpstey

Peninsula Medical School

Oxygen is the most used drug in anaesthesia. Despite such widespread use, optimal perioperative oxygen administration remains highly controversial because of concerns about the competing harms of both hyperoxia and hypoxia. Notwithstanding a Cochrane review concluding that routinely administering a fractional inspired oxygen concentration (FiO2) >0.6 intraoperatively might increase postoperative morbidity and mortality, the World Health Organization (WHO) currently recommends all anaesthetised patients receive 0.8 FiO2 during and immediately after surgery to reduce surgical site infections. Results from the largest trial available at the time of these two reviews (suggesting long-term survival may be worse with high …


Enhancing Diagnostic Accuracy: A Hybrid Approach To Mitigate Speckle And Rician Noise In Medical Images, Naveenkumar Jayakumar, Saurabh Saoji, Sagar V. Joshi, Hemlata Mane, Roshni Narkhede, Shrikant Jadhav Jan 2024

Enhancing Diagnostic Accuracy: A Hybrid Approach To Mitigate Speckle And Rician Noise In Medical Images, Naveenkumar Jayakumar, Saurabh Saoji, Sagar V. Joshi, Hemlata Mane, Roshni Narkhede, Shrikant Jadhav

Faculty Research, Scholarly, and Creative Activity

This research explores the detrimental effects of Rician and speckle noise in medical imaging, particularly within MRI and radiographic modalities. Such noise can significantly obscure critical details, potentially leading to misdiagnoses and inaccurate measurements. Rician noise candidly dangles on the signal strength. Removing this noise affects the origial information in image that makes this noise removal perplexing. On other hand speckle noise is visualised like granular clog in ultrasound imageries. It creates ambiguous details and edges in the images. To address this challenge, the study introduces a novel hybrid method implemented in Java. The method employs a frequency-based decomposition approach …


Protecting The Mental Health Of People Seeking Sanctuary In The Uk's Evolving Legislative Landscape, Rohit Shankar Jan 2024

Protecting The Mental Health Of People Seeking Sanctuary In The Uk's Evolving Legislative Landscape, Rohit Shankar

Peninsula Medical School

No abstract provided.


The Policy And Politics Of Healthcare Corporatisation: The Case Of The English Nhs, Rod Sheaff, Pauline Allen, Mark Exworthy, Russell Mannion Jan 2024

The Policy And Politics Of Healthcare Corporatisation: The Case Of The English Nhs, Rod Sheaff, Pauline Allen, Mark Exworthy, Russell Mannion

Peninsula Medical School

Rationale: Few accounts of healthcare corporatisation examine the effects of the 2008 financial crisis. New Politics of the Welfare State (NPWS) theories recognise the relevance of crises but give more attention to programmatic than systemic (structural) retrenchment, and little to healthcare corporatisation. Objective: To examine what changes the 2008 financial crisis produced in the pattern of healthcare corporatisation, and the implications for NPWS theories. Methods: Using administrative data from the English NHS during 1995–2019 we formulated a multi-dimensional index of corporatisation, tested its validity, and used it to analyse longitudinally how the financial crisis affected the balance between the responsibilization …


Tiktok As Social Communication Tool To Encourage Participation In Volunteering Projects, Belén Moreno-Albarracín, Tania Blanco-Sánchez Jan 2024

Tiktok As Social Communication Tool To Encourage Participation In Volunteering Projects, Belén Moreno-Albarracín, Tania Blanco-Sánchez

Faculty Research, Scholarly, and Creative Activity

Social media are regarded as tools of communication and social influence. Notwithstanding this, TikTok’s majority audience in 2023 is made up of members of generations Z and Alpha, associated in previous studies with a participatory crisis. Given this contradiction, a research question is proposed: do young people use TikTok to consolidate social values such as solidarity? To answer it, the main objective is to analyse the use of TikTok as an instrument for youth participation in volunteer projects. A mixed methodology is used, based on a content analysis of the 150 videos uploaded to TikTok with the hashtag #voluntariado and …


Editorial: Sex Differences In Cancer Incidence, Mortality, And Survival: Methodological Perspectives, Syed Ahsan Raza, Wilson Luiz Da Costa, Aaron P Thrift Jan 2024

Editorial: Sex Differences In Cancer Incidence, Mortality, And Survival: Methodological Perspectives, Syed Ahsan Raza, Wilson Luiz Da Costa, Aaron P Thrift

Faculty, Staff and Students Publications

No abstract provided.


Health Care Transition Quadruple Aim Outcomes For Idd: Scoping Review, Ellen Fremion, Kathleen Irby, Sophia Jan, Carlie Stein Somerville, Susan Shanske, Dava Szalda, Ahmet Uluer, Parag Shah Jan 2024

Health Care Transition Quadruple Aim Outcomes For Idd: Scoping Review, Ellen Fremion, Kathleen Irby, Sophia Jan, Carlie Stein Somerville, Susan Shanske, Dava Szalda, Ahmet Uluer, Parag Shah

Faculty, Staff and Students Publications

Purpose: Structured HCT models addressing planning, transfer, and integration into adult care for adolescents and young adults with childhood-acquired chronic conditions are becoming more prevalent. However, consensus on outcome measures to assess health care transition (HCT) interventions particularly for intellectual and developmental disabilities (IDD) population is lacking. This scoping review identified potential HCT outcome measures for young adults (aged 18-26) with IDD using the Quadruple Aim Framework.

Methods: On August 6, 2021 and April 27, 2023, Medline Ovid, Embase, Web of Science, PsycINFO, and Cochrane databases were searched using the terms "young adult," "intellectual disability," "developmental disability, "cognitive dysfunction," "autism," …


Select Gut Microbiota Impede Rotavirus Vaccine Efficacy, Vu L Ngo, Yanling Wang, Yadong Wang, Zhenda Shi, Robert Britton, Jun Zou, Sasirekha Ramani, Baoming Jiang, Andrew T Gewirtz Jan 2024

Select Gut Microbiota Impede Rotavirus Vaccine Efficacy, Vu L Ngo, Yanling Wang, Yadong Wang, Zhenda Shi, Robert Britton, Jun Zou, Sasirekha Ramani, Baoming Jiang, Andrew T Gewirtz

Faculty, Staff and Students Publications

BACKGROUND & AIMS: The protection provided by rotavirus (RV) vaccines is highly heterogeneous among individuals. We hypothesized that microbiota composition might influence RV vaccine efficacy.

METHODS: First, we examined the potential of segmented filamentous bacteria (SFB) colonization to influence RV vaccine efficacy in mice. Next, we probed the influence of human microbiomes on RV vaccination via administering mice fecal microbial transplants (FMTs) from children with robust or minimal RV vaccine responsiveness. Post-FMT, mice were subjected to RV vaccination followed by RV challenge.

RESULTS: SFB colonization induced a phenotype that was reminiscent of RV vaccine failure (ie, failure to generate RV …


Folate Regulation Of Planar Cell Polarity Pathway And F-Actin Through Folate Receptor Alpha, Xiao Han, Xuanye Cao, Robert M Cabrera, Paula Andrea Pimienta Ramirez, Ying Linda Lin, Bogdan J Wlodarczyk, Cuilian Zhang, Richard H Finnell, Yunping Lei Jan 2024

Folate Regulation Of Planar Cell Polarity Pathway And F-Actin Through Folate Receptor Alpha, Xiao Han, Xuanye Cao, Robert M Cabrera, Paula Andrea Pimienta Ramirez, Ying Linda Lin, Bogdan J Wlodarczyk, Cuilian Zhang, Richard H Finnell, Yunping Lei

Faculty, Staff and Students Publications

Folate deficiency contribute to neural tube defects (NTDs) which could be rescued by folate supplementation. However, the underlying mechanisms are still not fully understood. Besides, there is considerable controversy concerning the forms of folate used for supplementation. To address this controversy, we prepared culture medium with different forms of folate, Folic acid (FA) and 5-methyltetrahydrofolate(5mTHF), at concentration of 5uM, 500nM, 50nM and folate free, respectively. Mouse embryonic fibroblasts (MEFs) were treated with different folates continuously for three passages and cell proliferation and F-actin was monitored. We determined that compared to 5mTHF, FA showed stronger effects on promoting cell proliferation and …


Integrative Computational Analyses Implicate Regulatory Genomic Elements Contributing To Spina Bifida, Paul Wolujewicz, Vanessa Aguiar-Pulido, Gaurav Thareja, Karsten Suhre, Olivier Elemento, Richard H Finnell, M Elizabeth Ross Jan 2024

Integrative Computational Analyses Implicate Regulatory Genomic Elements Contributing To Spina Bifida, Paul Wolujewicz, Vanessa Aguiar-Pulido, Gaurav Thareja, Karsten Suhre, Olivier Elemento, Richard H Finnell, M Elizabeth Ross

Faculty, Staff and Students Publications

PURPOSE: Spina bifida (SB) arises from complex genetic interactions that converge to interfere with neural tube closure. Understanding the precise patterns conferring SB risk requires a deep exploration of the genomic networks and molecular pathways that govern neurulation. This study aims to delineate genome-wide regulatory signatures underlying SB pathophysiology.

METHODS: An untargeted, genome-wide approach was used to interrogate regulatory regions for rare single-nucleotide and copy-number variants (rSNVs and rCNVs, respectively) predicted to affect gene expression, comparing results from SB patients with healthy controls. Qualifying variants were subjected to a deep learning prioritization framework to identify the most functionally relevant variants, …


Traf4-Mediated Nonproteolytic Ubiquitination Of Androgen Receptor Promotes Castration-Resistant Prostate Cancer, Yosi Gilad, Ortal Shimon, Sang Jun Han, David M Lonard, Bert W O'Malley Jan 2024

Traf4-Mediated Nonproteolytic Ubiquitination Of Androgen Receptor Promotes Castration-Resistant Prostate Cancer, Yosi Gilad, Ortal Shimon, Sang Jun Han, David M Lonard, Bert W O'Malley

Faculty, Staff and Students Publications

Steroid receptor coactivators (SRCs) are master regulators of transcription that play key roles in human physiology and pathology. SRCs are particularly important for the regulation of the immune system with major roles in lymphocyte fate determination and function, macrophage activity, regulation of nuclear factor κB (NF-κB) transcriptional activity and other immune system biology. The three members of the p160 SRC family comprise a network of immune-regulatory proteins that can function independently or act in synergy with each other, and compensate for - or moderate - the activity of other SRCs. Recent evidence indicates that the SRCs are key participants in …


Cffdna Screening For Niemann-Pick Disease, Type C1: A Case Series, Sydney A Lau, Romy I Fawaz, Robert Rigobello, Shahad Bawazeer, Nouf M Alajaji, Eissa Faqeih, Yanchun Li, Yanming Feng, Fan Xia, Christine M Eng, Malak Abedalthagafi Jan 2024

Cffdna Screening For Niemann-Pick Disease, Type C1: A Case Series, Sydney A Lau, Romy I Fawaz, Robert Rigobello, Shahad Bawazeer, Nouf M Alajaji, Eissa Faqeih, Yanchun Li, Yanming Feng, Fan Xia, Christine M Eng, Malak Abedalthagafi

Faculty, Staff and Students Publications

Cell-free fetal DNA (cffDNA) screening is a valuable tool in clinical practice for detecting chromosomal abnormalities and autosomal dominant (AD) conditions. This study introduces a novel proof-of-concept assay designed for autosomal recessive (AR) cffDNA screening, focusing on cases involving the NPC1 gene. We aim to illustrate the significant benefits of AR cffDNA screening in managing high-risk pregnancies, specifically where biallelic pathogenic variants in NPC1 cause Niemann-Pick disease, type C1 (NPC), a disorder marked by progressive neurodegeneration. Three participants for this study were recruited and gave consent to a hospital in Saudi Arabia. These participants were either carriers of NPC or …


Parkinson's Disease And Other Alzheimer's Disease And Related Dementia Pathologies And The Progression Of Parkinsonism In Older Adults, Aron S Buchman, Lei Yu, Shahram Oveisgharan, Andrea R Zammit, Tianhao Wang, Joshua M Shulman, Veronique Vanderhorst, Sukrit Nag, David A Bennett Jan 2024

Parkinson's Disease And Other Alzheimer's Disease And Related Dementia Pathologies And The Progression Of Parkinsonism In Older Adults, Aron S Buchman, Lei Yu, Shahram Oveisgharan, Andrea R Zammit, Tianhao Wang, Joshua M Shulman, Veronique Vanderhorst, Sukrit Nag, David A Bennett

Faculty, Staff and Students Publications

BACKGROUND: The interrelationship of parkinsonism, Parkinson's disease (PD) and other Alzheimer's disease (AD) and Alzheimer's disease and related dementias (ADRD) pathologies is unclear.

OBJECTIVE: We examined the progression of parkinsonian signs in adults with and without parkinsonism, and their underlying brain pathologies.

METHODS: Annual parkinsonian signs were based on a modified Unified Parkinson's Disease Rating Scale. We used linear mixed effects models to compare the progression of parkinsonian signs in 3 groups categorized based on all available clinical evaluations: Group1 (never parkinsonism or clinical PD), Group2 (ever parkinsonism, but never clinical PD), Group3 (ever clinical PD). In decedents, we examined …


Scientific Impact Of The National Birth Defects Prevention Network Multistate Collaborative Publications, Jacqueline T Bascom, Sara B Stephens, Philip J Lupo, Mark A Canfield, Russell S Kirby, Eirini Nestoridi, Jason L Salemi, Cara T Mai, Wendy N Nembhard, Nina E Forestieri, Paul A Romitti, Amanda M St Louis, A J Agopian Jan 2024

Scientific Impact Of The National Birth Defects Prevention Network Multistate Collaborative Publications, Jacqueline T Bascom, Sara B Stephens, Philip J Lupo, Mark A Canfield, Russell S Kirby, Eirini Nestoridi, Jason L Salemi, Cara T Mai, Wendy N Nembhard, Nina E Forestieri, Paul A Romitti, Amanda M St Louis, A J Agopian

Faculty, Staff and Students Publications

BACKGROUND: Given the lack of a national, population-based birth defects surveillance program in the United States, the National Birth Defects Prevention Network (NBDPN) has facilitated important studies on surveillance, research, and prevention of major birth defects. We sought to summarize NBDPN peer-reviewed publications and their impact.

METHODS: We obtained and reviewed a curated list of 49 NBDPN multistate collaborative publications during 2000-2022, as of December 31, 2022. Each publication was reviewed and classified by type (e.g., risk factor association analysis). Key characteristics of study populations and analytic approaches used, along with publication impact (e.g., number of citations), were tabulated.

RESULTS: …


Prevalence Of Congenital Anomalies According To Maternal Race And Ethnicity, Texas, 1999–2018, Jeremy M Schraw, Elwin Jaime, Charles J Shumate, Mark A Canfield, Philip J Lupo Jan 2024

Prevalence Of Congenital Anomalies According To Maternal Race And Ethnicity, Texas, 1999–2018, Jeremy M Schraw, Elwin Jaime, Charles J Shumate, Mark A Canfield, Philip J Lupo

Faculty, Staff and Students Publications

BACKGROUND: Few studies of congenital anomalies provide prevalence estimates stratified by maternal race/ethnicity. We sought to determine whether the prevalence of a broad spectrum of anomalies varies among offspring of women from different race/ethnic groups.

METHODS: We obtained information on cases with anomalies from the population-based Texas Birth Defects Registry, and denominator data on livebirths among Texas residents during 1999-2018 from the Texas Center for Health Statistics. We estimated the prevalence ratio (PR) and 95% confidence interval (CI) of N = 145 anomalies among offspring of Hispanic and non-Hispanic Black relative to non-Hispanic White women using Poisson regression, adjusting for …


Neutrophil-Derived Activin-A Moderates Their Pro-Netotic Activity And Attenuates Collateral Tissue Damage Caused By Influenza A Virus Infection, Georgios Divolis, Evgenia Synolaki, Athanasia Doulou, Ariana Gavriil, Christina C Giannouli, Anastasia Apostolidou, Martyn L Foster, Martin M Matzuk, Panagiotis Skendros, Ioanna-Evdokia Galani, Paschalis Sideras Jan 2024

Neutrophil-Derived Activin-A Moderates Their Pro-Netotic Activity And Attenuates Collateral Tissue Damage Caused By Influenza A Virus Infection, Georgios Divolis, Evgenia Synolaki, Athanasia Doulou, Ariana Gavriil, Christina C Giannouli, Anastasia Apostolidou, Martyn L Foster, Martin M Matzuk, Panagiotis Skendros, Ioanna-Evdokia Galani, Paschalis Sideras

Faculty, Staff and Students Publications

BACKGROUND: Pre-neutrophils, while developing in the bone marrow, transcribe the Inhba gene and synthesize Activin-A protein, which they store and release at the earliest stage of their activation in the periphery. However, the role of neutrophil-derived Activin-A is not completely understood.

METHODS:To address this issue, we developed a neutrophil-specific Activin-A-deficient animal model (S100a8-Cre/Inhba fl/fl mice) and analyzed the immune response to Influenza A virus (IAV) infection. More specifically, evaluation of body weight and lung mechanics, molecular and cellular analyses of bronchoalveolar lavage fluids, flow cytometry and cell sorting of lung cells, as well as histopathological analysis of lung tissues, …


Bi-Allelic Variants In Cep295 Cause Seckel-Like Syndrome Presenting With Primary Microcephaly, Developmental Delay, Intellectual Disability, Short Stature, Craniofacial And Digital Abnormalities, Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama Alabdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S Alkuraya, Keren Machol, Jian Wang Jan 2024

Bi-Allelic Variants In Cep295 Cause Seckel-Like Syndrome Presenting With Primary Microcephaly, Developmental Delay, Intellectual Disability, Short Stature, Craniofacial And Digital Abnormalities, Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama Alabdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S Alkuraya, Keren Machol, Jian Wang

Faculty, Staff and Students Publications

BACKGROUND: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases in humans. We sought to explore the roles of CEP295 in human pathology.

METHODS: Whole-exome sequencing was performed to screen for pathogenic variants in patients with severe microcephaly. Patient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying pathomechanisms, including centriole/centrosome development, cell cycle and proliferation changes, and ciliogenesis. Complementary experiments using CEP295 mRNA were performed to determine the pathogenicity of the identified missense variant. …