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Full-Text Articles in Medicine and Health Sciences

An Investigation Into The Consumption Of Caffeinated Energy Drinks Among University Students In Ireland, Jessica Holmes, Denas Molotokas, Ralfas Molotokas Jul 2024

An Investigation Into The Consumption Of Caffeinated Energy Drinks Among University Students In Ireland, Jessica Holmes, Denas Molotokas, Ralfas Molotokas

International Undergraduate Journal of Health Sciences

Objectives: To investigate the consumption patterns of caffeinated energy drinks among university students in the south of Ireland

Materials and Methods: An online survey was created using Google Forms to investigate the consumption of caffeinated energy drinks among university students in Ireland. It was distributed to students via social media and email from the 8th of March to the 21st of March 2023 inclusive. A total of 281 responses were analysed and validated by data cleaning on Microsoft Excel, with 10 incomplete responses discarded, yielding 271 validated responses for statistical analysis.

Results: The majority of survey respondents (71.3%) reported consuming …


A Review Of The Role Of Single-Cell Rna-Sequencing (Scrna-Seq) In The Transcriptome Analysis Of Ductal Carcinoma In Situ (Dcis), Ali Maeve Fitzgerald, Francesca Tiso, Eldar T. Abdullaev, Kirsten Kübler Jul 2024

A Review Of The Role Of Single-Cell Rna-Sequencing (Scrna-Seq) In The Transcriptome Analysis Of Ductal Carcinoma In Situ (Dcis), Ali Maeve Fitzgerald, Francesca Tiso, Eldar T. Abdullaev, Kirsten Kübler

International Undergraduate Journal of Health Sciences

Ductal carcinoma in situ (DCIS) remains one of the most reported lesions detected by mammography screening programmes, yet our understanding of its progression to malignancy and markers of invasiveness is limited. Although a non-obligate precursor of invasive ductal carcinoma (IDC), all currently diagnosed DCIS patients are indiscriminately subjected to mastectomy or breast-conserving therapy (BCT) and radiotherapy. With less than 50% of untreated DCIS progressing to IDC, questions have been raised surrounding the over-treatment of indolent DCIS.

Thus, one of the central clinical challenges is to assess the risk of disease progression, which has prompted research efforts aimed at refining prognostic …


An Investigation Into Aetiology, Detection And Treatment Of Neonatal Alloimmune Thrombocytopenia, Mairead Horan Jul 2024

An Investigation Into Aetiology, Detection And Treatment Of Neonatal Alloimmune Thrombocytopenia, Mairead Horan

International Undergraduate Journal of Health Sciences

NAIT is a rare disorder with a similar aetiology to HDN, however unlike its erythrocyte counterpart, thrombocyte immunisation can occur within the first pregnancy. (Giouleka et al., 2023). The most common antibodies implicated are HLA-1a. (Winkelhorst et al., 2017). 2.5% of the Caucasian population are HPA-1a negative, of this population 33% are HLA-DR-B3*0101 positive increasing the risk of producing an alloantibody upon encountering the HPA-1a antigen. The maternal system becomes alloimmunised to the foreign paternal antigens of the foetus/neonate, which cross the placenta causing low platelets of the foetus. (Giouleka et al., 2023).

A third of antigen-positive neonates born to …


Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 4, Issue 1, July 2024, Iujhs Full Issue Jul 2024

Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 4, Issue 1, July 2024, Iujhs Full Issue

International Undergraduate Journal of Health Sciences

Full Issue: The International Undergraduate Journal of Health Sciences, Volume 4, Issue 1, July 2024


Medical School Watercooler Newsletter - July 18, 2024, Lindsay Hughes Jul 2024

Medical School Watercooler Newsletter - July 18, 2024, Lindsay Hughes

Watercooler Newsletter

This is the July 18, 2024 edition of the Frederick P. Whiddon College of Medicine’s newsletter - Watercooler.

Contents Include

  • Medical student presents diagnostic radiology research at conference in Singapore
  • Summer Research Day set for July 26
  • USA welcomes new anatomic and clinical pathologist


Occupational Therapy's Role In Maternal, Infant, And Family Wellness: Policy, Procedure, And Program Development, Emilee Armstrong Jul 2024

Occupational Therapy's Role In Maternal, Infant, And Family Wellness: Policy, Procedure, And Program Development, Emilee Armstrong

Department of Occupational Therapy Entry-Level Capstone Projects

This capstone project aimed to advocate for maternal, infant, and family wellness through occupational therapy services. The focus areas of my capstone project included administration, advocacy, policy and program development. I developed two post-cesarean delivery policies for maternal rehabilitation and father-infant bonding, a Kangaroo Father Care program, and an occupational therapy position proposal. The Kangaroo Father Care program included healthcare professional educational modules, an administration checklist, and facility and patient flyers. My project aimed to develop the foundation for implementing acute maternal rehabilitative services for a regional hospital in Northeast Indiana. The knowledge and skills I gained throughout my capstone …


Relationship Between Sports Participation, Weight Intentions, And Insufficient Sleep On E-Cigarette Use Among U.S. High School Students, Stephanie Deivert Jul 2024

Relationship Between Sports Participation, Weight Intentions, And Insufficient Sleep On E-Cigarette Use Among U.S. High School Students, Stephanie Deivert

Walden Dissertations and Doctoral Studies

Despite public health efforts, e-cigarette use among youths persists, posing risks due to high nicotine content and the potential for transitioning to traditional cigarette smoking. Although sports participation has shielded individuals from traditional cigarette use, recent studies revealed a higher susceptibility to e-cigarette use among young athletes, though influencing factors were unexplored. Using the socioecological model, this retrospective cross-sectional study examined the relationship between sports participation, weight intentions, insufficient sleep, and e-cigarette use among U.S. high school students by analyzing 2021 National Youth Risk Behavior Survey data. Binary logistic regression assessed associations between variables. An interaction term examined the moderating …


Transformative Learning: Changing Nurses’ Perceptions About People In Poverty, Jacqueline Debrew Jul 2024

Transformative Learning: Changing Nurses’ Perceptions About People In Poverty, Jacqueline Debrew

Journal of Social, Behavioral, and Health Sciences

Background: Meaningful learning experiences with clients in poverty may help nursing students change their perceptions towards those experiencing poverty and, thus, provide unbiased, nonjudgmental care when they become nurses.

Purpose: The purpose of this research was to understand what learning activities and experiences nursing students found meaningful and led to a change in prior perceptions of people in poverty.

Methods: Guided by Mezirow’s Theory of Transformative Learning, accelerated BSN students enrolled in a mental health nursing course (n = 14) were assigned reflective journals throughout the semester on their assigned clinical experiences, which were analyzed for emergent themes.

Results: …


Optimizing Adherence To Antiretroviral Therapy Among Adolescents Living With Hiv In Low And Middle-Income Settings, Samuel Kizito Jul 2024

Optimizing Adherence To Antiretroviral Therapy Among Adolescents Living With Hiv In Low And Middle-Income Settings, Samuel Kizito

Brown School Graduate Student Theses and Dissertations

Globally, 1.8 million adolescents are living with HIV (ALHIV), of whom 89% (1.5 million) are in Sub-Saharan Africa (SSA) (UNAIDS, 2021b). Unfortunately, despite advances in prevention—such as the prevention of mother to child transmission (PMTCT) and pre-exposure prophylaxis—new infections continue to occur. For example, in 2021 alone, the number of new HIV infections among adolescents aged 10 to 19 was 160,000 cases. Moreover, the rate of HIV-related deaths among adolescents has only declined by 10% in the last decade, which is not fast enough to meet the 2030 global targets. Despite antiretroviral therapy (ART) playing a crucial role in controlling …


Health Disparities In Cervical Cancer: Estimating Geographic Variations Of Disease Burden And Association With Key Socioeconomic And Demographic Factors In The Us, Tara Castellano, Andrew K. Elhabr, Christina Washington, Jie Ting, Yitong J. Zhang, Fernanda Musa, Ezgi Berksoy, Kathleen Moore, Leslie Randall, Jagpreet Chhatwal, Turgay Ayer, Charles A. Leath Jul 2024

Health Disparities In Cervical Cancer: Estimating Geographic Variations Of Disease Burden And Association With Key Socioeconomic And Demographic Factors In The Us, Tara Castellano, Andrew K. Elhabr, Christina Washington, Jie Ting, Yitong J. Zhang, Fernanda Musa, Ezgi Berksoy, Kathleen Moore, Leslie Randall, Jagpreet Chhatwal, Turgay Ayer, Charles A. Leath

School of Medicine Faculty Publications

BACKGROUND: Despite advances in cervical cancer (CC) prevention, detection, and treatment in the US, health disparities persist, disproportionately affecting underserved populations or regions. This study analyzes the geographical distribution of both CC and recurrent/metastatic CC (r/mCC) in the US and explores potential risk factors of higher disease burden to inform potential strategies to address disparities in CC and r/mCC. METHODS: We estimated CC screening rates, as well as CC burden (number of patients with CC diagnosis per 100,000 eligible enrollees) and r/mCC burden (proportion of CC patients receiving systemic therapy not in conjunction with surgery or radiation), at the geographic …


National Estimates For The Percentage Of All Readmissions With Demographic Features, Morbidity, Overall And Gender-Specific Mortality Of Transcutaneous Versus Open Surgical Tricuspid Valve Replacement/Repair, Muhammad Shayan Khan, Abdul Baqi, Ayesha Tahir, Ghulam Mujtaba Ghumman, Waqas Ullah, Jay Shah, Yasar Sattar, Tanveer Mir, Zain Sheikh, Fnu Salman, Moaaz Baghal, Kritika Luthra, Vinod Khatri, Zainulabedin Waqar, Malik Waleed Zeb Khan, Mohammed Taleb, Syed Sohail Ali Jul 2024

National Estimates For The Percentage Of All Readmissions With Demographic Features, Morbidity, Overall And Gender-Specific Mortality Of Transcutaneous Versus Open Surgical Tricuspid Valve Replacement/Repair, Muhammad Shayan Khan, Abdul Baqi, Ayesha Tahir, Ghulam Mujtaba Ghumman, Waqas Ullah, Jay Shah, Yasar Sattar, Tanveer Mir, Zain Sheikh, Fnu Salman, Moaaz Baghal, Kritika Luthra, Vinod Khatri, Zainulabedin Waqar, Malik Waleed Zeb Khan, Mohammed Taleb, Syed Sohail Ali

Abington Jefferson Health Papers

BACKGROUND: The aim of the study was to determine national estimates for the percentage of all readmissions with demographic features, length of stay (LOS), cost analysis, comorbidities, complications, overall and gender-specific mortality and complications of transcutaneous tricuspid valve replacement/repair (TTVR) vs. open surgical tricuspid valve replacement/repair (open TVR).

METHODS: Data were extrapolated from the Nationwide Readmissions Database (NRD) 2015-19. Of the 75,266,750 (unweighted) cases recorded in the 2015 - 2019 dataset, 429 had one or more of the percutaneous approach codes as per the ICD-10 dataset, and 10,077 had one or more of the open approach codes.

RESULTS: Overall, the …


Membrane Vectorial Lipidomic Features Of Coral Host Cells’ Plasma Membrane And Lipid Profiles Of Their Endosymbionts Cladocopium, Tatyana V Sikorskaya, Ekaterina V Ermolenko, Taliya T Ginanova, Andrey V Boroda, Kseniya V Efimova, Mikhail Bogdanov Jul 2024

Membrane Vectorial Lipidomic Features Of Coral Host Cells’ Plasma Membrane And Lipid Profiles Of Their Endosymbionts Cladocopium, Tatyana V Sikorskaya, Ekaterina V Ermolenko, Taliya T Ginanova, Andrey V Boroda, Kseniya V Efimova, Mikhail Bogdanov

Faculty, Staff and Student Publications

The symbiotic relationships between coral animal host and autotrophic dinoflagellates are based on the mutual exchange and tight control of nutritional inputs supporting successful growth. The corals Sinularia heterospiculata and Acropora aspera were cultivated using a flow-through circulation system supplying seawater during cold and warm seasons of the year, then sorted into host cells and symbionts and subjected to phylogenetic, morphological, and advanced lipid analyses. Here we show, that the lipidomes of the dinoflagellates Cladocopium C1/C3 and acroporide-specific Cladocopium hosted by the corals, are determined by lipidomic features of different thermosensitivity and unique betaine- and phospholipid molecular species. Phosphatidylserines and …


Prediction Of Mild Cognitive Impairment Status: Pilot Study Of Machine Learning Models Based On Longitudinal Data From Fitness Trackers, Qidi Xu, Yejin Kim, Karen Chung, Paul Schulz, Assaf Gottlieb Jul 2024

Prediction Of Mild Cognitive Impairment Status: Pilot Study Of Machine Learning Models Based On Longitudinal Data From Fitness Trackers, Qidi Xu, Yejin Kim, Karen Chung, Paul Schulz, Assaf Gottlieb

Faculty, Staff and Student Publications

BACKGROUND: Early signs of Alzheimer disease (AD) are difficult to detect, causing diagnoses to be significantly delayed to time points when brain damage has already occurred and current experimental treatments have little effect on slowing disease progression. Tracking cognitive decline at early stages is critical for patients to make lifestyle changes and consider new and experimental therapies. Frequently studied biomarkers are invasive and costly and are limited for predicting conversion from normal to mild cognitive impairment (MCI).

OBJECTIVE: This study aimed to use data collected from fitness trackers to predict MCI status.

METHODS: In this pilot study, fitness trackers were …


Targeted Sequencing For Hereditary Breast And Ovarian Cancer In Brca1/2-Negative Families Reveals Complex Genetic Architecture And Phenocopies, Jocelyn N Plowman, Evanjalina J Matoy, Lavanya V Uppala, Samantha B Draves, Cynthia J Watson, Bridget A Sefranek, Mark L Stacey, Samuel P Anderson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Yusi Fu, Holly A F Stessman Jul 2024

Targeted Sequencing For Hereditary Breast And Ovarian Cancer In Brca1/2-Negative Families Reveals Complex Genetic Architecture And Phenocopies, Jocelyn N Plowman, Evanjalina J Matoy, Lavanya V Uppala, Samantha B Draves, Cynthia J Watson, Bridget A Sefranek, Mark L Stacey, Samuel P Anderson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Yusi Fu, Holly A F Stessman

Faculty, Staff and Student Publications

Approximately 20% of breast cancer cases are attributed to increased family risk, yet variation in BRCA1/2 can only explain 20%-25% of cases. Historically, only single gene or single variant testing were common in at-risk family members, and further sequencing studies were rarely offered after negative results. In this study, we applied an efficient and inexpensive targeted sequencing approach to provide molecular diagnoses in 245 human samples representing 134 BRCA mutation-negative (BRCAX) hereditary breast and ovarian cancer (HBOC) families recruited from 1973 to 2019 by Dr. Henry Lynch. Sequencing identified 391 variants, which were functionally annotated and ranked based on their …


In Vitro Data Suggest A Role For Pms2 Kozak Sequence Mutations In Lynch Syndrome Risk, Evanjalina J Matoy, Jocelyn N Plowman, Cynthia J Watson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Holly A F Stessman Jul 2024

In Vitro Data Suggest A Role For Pms2 Kozak Sequence Mutations In Lynch Syndrome Risk, Evanjalina J Matoy, Jocelyn N Plowman, Cynthia J Watson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Holly A F Stessman

Faculty, Staff and Student Publications

This study investigates the role of 5′ UTR PMS2 Kozak sequence genetic variation in cancer risk. It accomplishes this through the development of a mid-throughput reporter assay where variants can be tested for protein translation efficiency. The results highlight the importance of continued study of the Kozak sequence related to human disease.


Accuracy, Thoroughness, And Quality Of Outpatient Primary Care Documentation In The U.S. Department Of Veterans Affairs., Michael Weiner, Mindy E Flanagan, Katie Ernst, Ann H Cottingham, Nicholas A Rattray, Zamal Franks, April W Savoy, Joy L Lee, Richard M Frankel Jul 2024

Accuracy, Thoroughness, And Quality Of Outpatient Primary Care Documentation In The U.S. Department Of Veterans Affairs., Michael Weiner, Mindy E Flanagan, Katie Ernst, Ann H Cottingham, Nicholas A Rattray, Zamal Franks, April W Savoy, Joy L Lee, Richard M Frankel

Health Services and Informatics Research

BACKGROUND: Electronic health records (EHRs) can accelerate documentation and may enhance details of notes, or complicate documentation and introduce errors. Comprehensive assessment of documentation quality requires comparing documentation to what transpires during the clinical encounter itself. We assessed outpatient primary care notes and corresponding recorded encounters to determine accuracy, thoroughness, and several additional key measures of documentation quality.

METHODS: Patients and primary care clinicians across five midwestern primary care clinics of the US Department of Veterans Affairs were recruited into a prospective observational study. Clinical encounters were video-recorded and transcribed verbatim. Using the Physician Documentation Quality Instrument (PDQI-9) added to …


Enhancing Neoadjuvant Virotherapy's Effectiveness By Targeting Stroma To Improve Resectability In Pancreatic Cancer, Khandoker Usran Ferdous, Mulu Z. Tesfay, Aleksandra Cios, Randal S. Shelton, Conner Hartupee, Alicja Urbaniak, Jean Christopher Chamcheu, Michail N. Mavros, Emmanouil Giorgakis, Bahaa Mustafa, Camila C. Simoes, Isabelle R. Miousse, Alexei G. Basnakian, Omeed Moaven, Steven R. Post, Martin J. Cannon, Thomas Kelly, Bolni Marius Nagalo Jul 2024

Enhancing Neoadjuvant Virotherapy's Effectiveness By Targeting Stroma To Improve Resectability In Pancreatic Cancer, Khandoker Usran Ferdous, Mulu Z. Tesfay, Aleksandra Cios, Randal S. Shelton, Conner Hartupee, Alicja Urbaniak, Jean Christopher Chamcheu, Michail N. Mavros, Emmanouil Giorgakis, Bahaa Mustafa, Camila C. Simoes, Isabelle R. Miousse, Alexei G. Basnakian, Omeed Moaven, Steven R. Post, Martin J. Cannon, Thomas Kelly, Bolni Marius Nagalo

School of Medicine Faculty Publications

About one-fourth of patients with pancreatic ductal adenocarcinoma (PDAC) are categorized as borderline resectable (BR) or locally advanced (LA). Chemotherapy and radiation therapy have not yielded the anticipated outcomes in curing patients with BR/LA PDAC. The surgical resection of these tumors presents challenges owing to the unpredictability of the resection margin, involvement of vasculature with the tumor, the likelihood of occult metastasis, a higher ratio of positive lymph nodes, and the relatively larger size of tumor nodules. Oncolytic virotherapy has shown promising activity in preclinical PDAC models. Unfortunately, the desmoplastic stroma within the PDAC tumor microenvironment establishes a barrier, hindering …


The Evolving Use Of Gold Nanoparticles As A Possible Reversal Agent For The Symptoms Of Neurodegenerative Diseases: A Narrative Review, Alan D. Kaye, Kelly R. Sala, Drew Dethloff, Matthew Norton, Corey Moss, Michael J. Plessala, Alyssa G. Derouen, Yair Lopez Torres, Julian Kim, Sridhar Tirumala, Sahar Shekoohi, Giustino Varrassi Jul 2024

The Evolving Use Of Gold Nanoparticles As A Possible Reversal Agent For The Symptoms Of Neurodegenerative Diseases: A Narrative Review, Alan D. Kaye, Kelly R. Sala, Drew Dethloff, Matthew Norton, Corey Moss, Michael J. Plessala, Alyssa G. Derouen, Yair Lopez Torres, Julian Kim, Sridhar Tirumala, Sahar Shekoohi, Giustino Varrassi

School of Medicine Faculty Publications

Neurodegenerative diseases are broadly hallmarked by impaired energy metabolism and toxic intracellular accumulations such as damaged organelles or reactive oxygen species (ROS). Gold nanoparticles readily cross the blood-brain barrier and increase nicotinamide adenine dinucleotide + hydrogen (NADH) oxidation to nicotinamide adenine dinucleotide (NAD+), which is vital for intracellular energy generation, cellular repair, and protection from ROS. Thus, the use of gold nanoparticles to treat and potentially reverse cellular injury seen in neurodegenerative disease has been an area of ongoing research. This systematic review explores current literature regarding the use of gold nanoparticle therapy in the treatment of neurodegenerative diseases such …


Long G4-Rich Enhancers Physically Interacts With Promoters Via A G4:G4 Dna-Based Mechanism, Jeffrey David Demeis Jul 2024

Long G4-Rich Enhancers Physically Interacts With Promoters Via A G4:G4 Dna-Based Mechanism, Jeffrey David Demeis

Graduate Theses and Dissertations (2019 - present)

Enhancers are genomic sequences that function as regulatory elements capable of increasing the transcription of a given gene often located at a considerable distance. The broadly accepted model of enhancer activation involves bringing an enhancer-bound activator protein complex into close spatial proximity to its target promoter through chromatin looping. Equally relevant to the work described herein, roles for guanine (G) rich sequences in transcriptional regulation are now widely accepted. Non-coding G-rich sequences are commonly found in gene promoters and enhancers, and various studies have described specific instances where G-rich sequences regulate gene expression via their capacity to form G-quadruplex (G4) …


Caregiver Attitudes Toward Sexual Behavior And Sex Education For Children With Down Syndrome, Shawna Urban Jul 2024

Caregiver Attitudes Toward Sexual Behavior And Sex Education For Children With Down Syndrome, Shawna Urban

Walden Dissertations and Doctoral Studies

This quantitative correlational study investigates caregivers’ attitudes toward sexual behavior and sex education for children with Down syndrome, drawing upon the theories of reasoned action and planned behavior. Data was collected from a convenience sample of 112 caregivers. The analysis revealed significant positive associations between caregivers’ attitudes toward sexuality and their perspectives on sex education. Binary logistic regression indicated that higher POS scores predict increased likelihood of endorsing sexual behavior and supporting sex education for children with Down syndrome. Notably, demographic factors such as gender, age, and educational level did not significantly influence caregivers’ decisions regarding sex education support. The …


Deepface: Deep-Learning-Based Framework To Contextualize Orofacial-Cleft-Related Variants During Human Embryonic Craniofacial Development, Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M Weinberg, Nandita Mukhopadhyay, Mary L Marazita, Lukas M Simon, Peilin Jia, Zhongming Zhao Jul 2024

Deepface: Deep-Learning-Based Framework To Contextualize Orofacial-Cleft-Related Variants During Human Embryonic Craniofacial Development, Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M Weinberg, Nandita Mukhopadhyay, Mary L Marazita, Lukas M Simon, Peilin Jia, Zhongming Zhao

Faculty, Staff and Student Publications

No abstract provided.


The Association Of Vitamin D Levels And Dental Caries In Older Adults: A Cross-Sectional Study., Man Hung, Amir Mohajeri, Mahsa Sadri, Elahe Khodabandeh, Ibrahim Zeitoun, Martin S. Lipsky Jul 2024

The Association Of Vitamin D Levels And Dental Caries In Older Adults: A Cross-Sectional Study., Man Hung, Amir Mohajeri, Mahsa Sadri, Elahe Khodabandeh, Ibrahim Zeitoun, Martin S. Lipsky

Institute on Aging Publications

Most research examining vitamin D and dental caries focuses on children and younger adults. This study investigated the association between vitamin D levels and dental caries in older adults using data from the United States National Health and Nutrition Examination Survey from 2011 to 2016.


Hybrid Inferior Pedicle Reduction Mammaplasty With Free Nipple Grafts In A Patient With Gigantomastia, Devin M. Melancon, Harel G. Schwartzberg, Genevieve E. Messa, Jonathan C. Boraski Jul 2024

Hybrid Inferior Pedicle Reduction Mammaplasty With Free Nipple Grafts In A Patient With Gigantomastia, Devin M. Melancon, Harel G. Schwartzberg, Genevieve E. Messa, Jonathan C. Boraski

School of Medicine Faculty Publications

Gigantomastia presents a unique set of challenges for preservation of the nipple-areola complex in patients undergoing reduction mammaplasty. Historically an indication for breast amputation and free nipple graft (FNG), gigantomastia is now commonly treated using pedicle-based reconstruction. We present a case combining these two surgical techniques, using an inferior-pedicle reduction with an FNG in the management of extreme breast hypertrophy with 11,300g in total resected. This case report shows that such a technique for gigantomastia reductions can combine the aesthetic benefits of a pedicled reduction with the reliability of FNGs. These benefits make the hybrid inferior pedicle reduction a useful …


Cerebrospinal Fluid-Based Spatial Statistics: Towards Quantitative Analysis Of Cerebrospinal Fluid Pseudodiffusivity, Yutong Chen, Hui Hong, Arash Nazeri, Hugh S Markus, Xiao Luo Jul 2024

Cerebrospinal Fluid-Based Spatial Statistics: Towards Quantitative Analysis Of Cerebrospinal Fluid Pseudodiffusivity, Yutong Chen, Hui Hong, Arash Nazeri, Hugh S Markus, Xiao Luo

2020-Current year OA Pubs

BACKGROUND: Cerebrospinal fluid (CSF) circulation is essential in removing metabolic wastes from the brain and is an integral component of the glymphatic system. Abnormal CSF circulation is implicated in neurodegenerative diseases. Low b-value magnetic resonance imaging quantifies the variance of CSF motion, or pseudodiffusivity. However, few studies have investigated the relationship between the spatial patterns of CSF pseudodiffusivity and cognition.

METHODS: We introduced a novel technique, CSF-based spatial statistics (CBSS), to automatically quantify CSF pseudodiffusivity in each sulcus, cistern and ventricle. Using cortical regions as landmarks, we segmented each CSF region. We retrospectively analyzed a cohort of 93 participants with …


Investigating Gene Functions And Single-Cell Expression Profiles Of De Novo Variants In Orofacial Clefts, Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W Curtis, Elizabeth J Leslie, Lukas M Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao Jul 2024

Investigating Gene Functions And Single-Cell Expression Profiles Of De Novo Variants In Orofacial Clefts, Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W Curtis, Elizabeth J Leslie, Lukas M Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao

Faculty, Staff and Student Publications

Orofacial clefts (OFCs) are common congenital birth defects with various etiologies, including genetic variants. Online Mendelian Inheritance in Man (OMIM) annotated several hundred genes involving OFCs. Furthermore, several hundreds of de novo variants (DNVs) have been identified from individuals with OFCs. Some DNVs are related to known OFC genes or pathways, but there are still many DNVs whose relevance to OFC development is unknown. To explore novel gene functions and their cellular expression profiles, we focused on DNVs in genes that were not listed in OMIM. We collected 960 DNVs in 853 genes from published studies and curated these genes, …


Deepface: Deep-Learning-Based Framework To Contextualize Orofacial-Cleft-Related Variants During Human Embryonic Craniofacial Development, Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M Weinberg, Nandita Mukhopadhyay, Mary L Marazita, Lukas M Simon, Peilin Jia, Zhongming Zhao Jul 2024

Deepface: Deep-Learning-Based Framework To Contextualize Orofacial-Cleft-Related Variants During Human Embryonic Craniofacial Development, Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M Weinberg, Nandita Mukhopadhyay, Mary L Marazita, Lukas M Simon, Peilin Jia, Zhongming Zhao

Faculty, Staff and Student Publications

Orofacial clefts (OFCs) are among the most common human congenital birth defects. Previous multiethnic studies have identified dozens of associated loci for both cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP). Although several nearby genes have been highlighted, the "casual" variants are largely unknown. Here, we developed DeepFace, a convolutional neural network model, to assess the functional impact of variants by SNP activity difference (SAD) scores. The DeepFace model is trained with 204 epigenomic assays from crucial human embryonic craniofacial developmental stages of post-conception week (pcw) 4 to pcw 10. The Pearson correlation coefficient between …


A Randomized Controlled Trial Testing The Effects Of A Social Needs Navigation Intervention On Health Outcomes And Healthcare Utilization Among Medicaid Members With Type 2 Diabetes, Amy Mcqueen, David Von Nordheim, Charlene Caburnay, Linda Li, Cynthia Herrick, Lauren Grimes, Darrell Broussard, Rachel E Smith, Dana Lawson, Yan Yan, Matthew Kreuter Jul 2024

A Randomized Controlled Trial Testing The Effects Of A Social Needs Navigation Intervention On Health Outcomes And Healthcare Utilization Among Medicaid Members With Type 2 Diabetes, Amy Mcqueen, David Von Nordheim, Charlene Caburnay, Linda Li, Cynthia Herrick, Lauren Grimes, Darrell Broussard, Rachel E Smith, Dana Lawson, Yan Yan, Matthew Kreuter

2020-Current year OA Pubs

Health systems are increasingly assessing and addressing social needs with referrals to community resources. The objective of this randomized controlled trial was to randomize adult Medicaid members with type 2 diabetes to receive usual care (


Chromatin Conformation And Histone Modification Profiling Across Human Kidney Anatomic Regions, Haikuo Li, Dian Li, Benjamin D Humphreys Jul 2024

Chromatin Conformation And Histone Modification Profiling Across Human Kidney Anatomic Regions, Haikuo Li, Dian Li, Benjamin D Humphreys

2020-Current year OA Pubs

The three major anatomic regions of the human kidney include the cortex, medulla and papilla, with different functions and vulnerabilities to kidney diseases. Epigenetic mechanisms underlying these anatomic structures are incompletely understood. Here, we performed chromatin conformation capture with Hi-C and histone modification H3K4me3/H3K27me3 Cleavage Under Targets and Release Using Nuclease (CUT&RUN) sequencing on the kidney cortex, medulla and papilla dissected from one individual donor. Nuclear suspensions were generated from each region and split subjected to paired Hi-C and CUT&RUN sequencing. We evaluated the quality of next-generation sequencing data, Hi-C chromatin contact matrices and CUT&RUN peak calling. H3K4me3 and H3K27me3 …


Mucosal Signatures Of Pathogenic T Cells In Hla-B*27+ Anterior Uveitis And Axial Spondyloarthritis, Michael A. Paley, Lynn M. Hassman, Grace L. Paley, Nicole Linskey, Ryan Agnew, Paulo Henrique Arantes De Faria, Annie Feng, Sophia Y. Li, Elisha D. O. Roberson, Philip A. Ruzycki, Ekaterina Esaulova, Jennifer Laurent, Lacey Feigl-Lenzen, Luke E. Springer, Chang Liu, Wayne M. Yokoyama, Et Al. Jul 2024

Mucosal Signatures Of Pathogenic T Cells In Hla-B*27+ Anterior Uveitis And Axial Spondyloarthritis, Michael A. Paley, Lynn M. Hassman, Grace L. Paley, Nicole Linskey, Ryan Agnew, Paulo Henrique Arantes De Faria, Annie Feng, Sophia Y. Li, Elisha D. O. Roberson, Philip A. Ruzycki, Ekaterina Esaulova, Jennifer Laurent, Lacey Feigl-Lenzen, Luke E. Springer, Chang Liu, Wayne M. Yokoyama, Et Al.

2020-Current year OA Pubs

HLA-B*27 was one of the first HLA alleles associated with an autoimmune disease, i.e., axial spondyloarthritis (axSpA) and acute anterior uveitis (B27AAU), which cause joint and eye inflammation, respectively. Gastrointestinal inflammation has been suggested as a trigger of axSpA. We recently identified a bacterial peptide (YeiH) that can be presented by HLA-B*27 to expanded public T cell receptors in the joint in axSpA and the eye in B27AAU. While YeiH is present in enteric microbiota and pathogens, additional evidence that pathogenic T cells in HLA-B*27-associated autoimmunity may have had a prior antigenic encounter within the gastrointestinal tract remains lacking. Here, …


Whole-Genome Sequences Reveal Zygotic Composition In Chimeric Twins, Christopher J Yoon, Obi L Griffith, Malachi Griffith, Et Al. Jul 2024

Whole-Genome Sequences Reveal Zygotic Composition In Chimeric Twins, Christopher J Yoon, Obi L Griffith, Malachi Griffith, Et Al.

2020-Current year OA Pubs

While most dizygotic twins have a dichorionic placenta, rare cases of dizygotic twins with a monochorionic placenta have been reported. The monochorionic placenta in dizygotic twins allows in utero exchange of embryonic cells, resulting in chimerism in the twins. In practice, this chimerism is incidentally identified in mixed ABO blood types or in the presence of cells with a discordant sex chromosome. Here, we applied whole-genome sequencing to one triplet and one twin family to precisely understand their zygotic compositions, using millions of genomic variants as barcodes of zygotic origins. Peripheral blood showed asymmetrical contributions from two sister zygotes, where …