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Articles 14671 - 14700 of 25035
Full-Text Articles in Medicine and Health Sciences
Mri Distance Measures As A Predictor Of Subsequent Clinical Status During The Preclinical Phase Of Alzheimer's Disease And Related Disorders, Xinyi Zhang, John C Morris, Tammie L S Benzinger, Et Al.
Mri Distance Measures As A Predictor Of Subsequent Clinical Status During The Preclinical Phase Of Alzheimer's Disease And Related Disorders, Xinyi Zhang, John C Morris, Tammie L S Benzinger, Et Al.
2020-Current year OA Pubs
Brain atrophy over time, as measured by magnetic resonance imaging (MRI), has been shown to predict subsequent cognitive impairment among individuals who were cognitively normal when first evaluated, indicating that subtle brain atrophy associated with Alzheimer's disease (AD) may begin years before clinical symptoms appear. Traditionally, atrophy has been quantified by differences in brain volume or thickness over a specified timeframe. Research indicates that the rate of atrophy varies across different brain regions, which themselves exhibit complex spatial and hierarchical organizations. These characteristics collectively emphasize the need for diverse summary measures that can effectively capture the multidimensional nature of degeneration. …
Outcomes Evidence Must Keep Up With The Implementation Of The 4ms Framework To Ensure Age-Friendly Health System Transformation, James D Harrison, Stephanie E Rogers, Benjamin Rosner, Estelle Martin, Sunny C Lin, Jarmin Yeh, Julia Adler-Milstein
Outcomes Evidence Must Keep Up With The Implementation Of The 4ms Framework To Ensure Age-Friendly Health System Transformation, James D Harrison, Stephanie E Rogers, Benjamin Rosner, Estelle Martin, Sunny C Lin, Jarmin Yeh, Julia Adler-Milstein
2020-Current year OA Pubs
The Age-Friendly Health System (AFHS) movement was conceptualized as a transformative solution to reliably deliver evidence-based care to older adults. Guided by the 4Ms framework: What Matters, Mobility, Mentation, and Medication, AFHS healthcare systems have been given the flexibility to tailor 4Ms interventions and care processes to their context, preferences and populations. This flexibility has facilitated the widespread adoption of 4Ms care. However, as our understanding of 4Ms implementation grows, evidence of the impact of 4Ms care on outcomes must keep up with implementation to ensure AFHS transformation. It is only through assessing the 4Ms as a whole and understanding …
Synapsin Condensation Is Governed By Sequence-Encoded Molecular Grammars, Christian Hoffmann, Kiersten M Ruff, Irina A Edu, Min Kyung Shinn, Johannes V Tromm, Matthew R King, Avnika Pant, Hannes Ausserwöger, Jennifer R Morgan, Tuomas P J Knowles, Rohit V Pappu, Dragomir Milovanovic
Synapsin Condensation Is Governed By Sequence-Encoded Molecular Grammars, Christian Hoffmann, Kiersten M Ruff, Irina A Edu, Min Kyung Shinn, Johannes V Tromm, Matthew R King, Avnika Pant, Hannes Ausserwöger, Jennifer R Morgan, Tuomas P J Knowles, Rohit V Pappu, Dragomir Milovanovic
2020-Current year OA Pubs
Multiple biomolecular condensates coexist at the pre- and post- synapse to enable vesicle dynamics and controlled neurotransmitter release in the brain. In pre-synapses, intrinsically disordered regions (IDRs) of synaptic proteins are drivers of condensation that enable clustering of synaptic vesicles (SVs). Using computational analysis, we show that the IDRs of SV proteins feature evolutionarily conserved non-random compositional biases and sequence patterns. Synapsin-1 is essential for condensation of SVs, and its C-terminal IDR has been shown to be a key driver of condensation. Focusing on this IDR, we dissected the contributions of two conserved features namely the segregation of polar and …
Volumetric Changes In Cerebellar Transverse Zones: Age And Sex Effects In Health And Neurological Disorders, Farshid Ghiyamihoor, Payam Paymani, Jarrad Perron, Azam Asemi-Rad, Mehdi Marzban, Aashka Mohite, Karen Ardila, Bara Aljada, Asghar Marzban, Mehnosh Toback, Sherif Eltonsy, Ji Hyun Ko, Tabrez J Siddiqui, Christopher J Steele, Jiming Kong, Mario Manto, M Ethan Macdonald, Jason S Gill, Roy V Sillitoe, Fuat Balcı, Iman Beheshti, Hassan Marzban
Volumetric Changes In Cerebellar Transverse Zones: Age And Sex Effects In Health And Neurological Disorders, Farshid Ghiyamihoor, Payam Paymani, Jarrad Perron, Azam Asemi-Rad, Mehdi Marzban, Aashka Mohite, Karen Ardila, Bara Aljada, Asghar Marzban, Mehnosh Toback, Sherif Eltonsy, Ji Hyun Ko, Tabrez J Siddiqui, Christopher J Steele, Jiming Kong, Mario Manto, M Ethan Macdonald, Jason S Gill, Roy V Sillitoe, Fuat Balcı, Iman Beheshti, Hassan Marzban
Duncan NRI Faculty and Staff Publications
Cerebellar volumetric changes are intricately linked to aging, with distinct patterns across its transverse zones, the functional subdivisions characterized by unique cytoarchitectural and connectivity profiles. Despite research efforts, the cerebellar aging process in health and neurological disorders remains poorly understood. In this study, we investigated the effects of age and sex on total cerebellum, transverse zone, and lobule volumes using MRI data from over 45,000 participants compiled from six neuroimaging datasets. We also propose a framework for estimating cerebellum age as an indicator of cerebellar health. Significant age‐dependent volume reductions were observed across transverse zones, with the …
Nitrate Ameliorates Alcohol-Induced Cognitive Impairment Via Oral Microbiota, Kangqing Zhao, Yanjie Zhang, Lina Liu, Zhong Wang, Jie Chen, Zhoulong Yu, Xuejiao Gao, Ying Qin, Jingwen Zhao, Wenjuan Peng, Jie Shi, Thomas R Kosten, Lin Lu, Lei Su, Yanxue Xue, Hongqiang Sun
Nitrate Ameliorates Alcohol-Induced Cognitive Impairment Via Oral Microbiota, Kangqing Zhao, Yanjie Zhang, Lina Liu, Zhong Wang, Jie Chen, Zhoulong Yu, Xuejiao Gao, Ying Qin, Jingwen Zhao, Wenjuan Peng, Jie Shi, Thomas R Kosten, Lin Lu, Lei Su, Yanxue Xue, Hongqiang Sun
Faculty, Staff and Students Publications
Alcohol use is associated with cognitive impairment and dysregulated inflammation. Oral nitrate may benefit cognitive impairment in aging through altering the oral microbiota. Similarly, the beneficial effects of nitrate on alcohol-induced cognitive decline and the roles of the oral microbiota merit investigation. Here we found that nitrate supplementation effectively mitigated cognitive impairment induced by chronic alcohol exposure in mice, reducing both systemic and neuroinflammation. Furthermore, nitrate restored the dysbiosis of the oral microbiota caused by alcohol consumption. Notably, removing the oral microbiota led to a subsequent loss of the beneficial effects of nitrate. Oral microbiota from donor alcohol use disordered …
Morphogenic, Molecular And Cellular Adaptations For Unidirectional Airflow In The Chicken Lung, Richa Nayak, Peter Y Lwigale, Ross A Poché, Jichao Chen
Morphogenic, Molecular And Cellular Adaptations For Unidirectional Airflow In The Chicken Lung, Richa Nayak, Peter Y Lwigale, Ross A Poché, Jichao Chen
Faculty, Staff and Students Publications
Unidirectional airflow in the avian lung enables gas exchange during both inhalation and exhalation. The underlying developmental process and how it deviates from that of the bidirectional mammalian lung are poorly understood. Sampling key developmental stages with multiscale 3D imaging and single-cell transcriptomics, we delineate morphogenic, molecular and cellular features that accommodate the unidirectional airflow in the chicken lung. Primary termini of hyper-elongated branches undergo proximal-short and distal-long fusions, forming parabronchi for air conduction. Through the parabronchial smooth muscle, neoform termini extend radially to form gas-exchanging alveoli. Supporting this radial alveologenesis, branch stalks halt their proximalization, defined by SOX9-SOX2 transition, …
A Screening Question To Assess Risk Of Using Antibiotics Without A Prescription: A Diagnostic Study, Marissa Valentine-King, Lindsey Laytner, Azalia Mancera, Roger Zoorob, Michael K Paasche-Orlow, Richard L Street, Barbara W Trautner, Larissa Grigoryan
A Screening Question To Assess Risk Of Using Antibiotics Without A Prescription: A Diagnostic Study, Marissa Valentine-King, Lindsey Laytner, Azalia Mancera, Roger Zoorob, Michael K Paasche-Orlow, Richard L Street, Barbara W Trautner, Larissa Grigoryan
Faculty, Staff and Students Publications
Objectives: Non-prescription antibiotic use (using antibiotics without medical advice) is potentially unsafe and promotes antimicrobial resistance. We studied predictors of prior non-prescription use and whether screening for prior non-prescription antibiotic use predicted intention of future non-prescription antibiotic use.
Methods: The survey was performed from January 2020 - June 2021 in six public primary care clinics and two private emergency departments. Prior non-prescription users were respondents who reported taking oral antibiotics for symptoms without contacting a clinician. Intended use was defined by answering yes to the question, "would you use antibiotics without contacting a doctor/nurse/dentist/clinic." We examined predictors for prior non-prescription …
Staff Update On Type 2 Diabetes Education, Toochukwu Endaline Mba
Staff Update On Type 2 Diabetes Education, Toochukwu Endaline Mba
Walden Dissertations and Doctoral Studies
The current rise in Type 2 diabetes among middle-aged individuals poses significant risks of health complications such as kidney damage, heart disease, stroke, nerve damage, vision loss, and skin problems. Research has shown that proper education on the causes and risk factors of Type 2 diabetes would increase people’s knowledge about the medical problem, helping promote positive health outcomes. This project was a staff education program using didactic and interactive case studies.
Vision For The Future Of Oncology Physical Therapy: Apta Oncology’S Strategic Plan, Christopher M. Wilson, Emily Compagner
Vision For The Future Of Oncology Physical Therapy: Apta Oncology’S Strategic Plan, Christopher M. Wilson, Emily Compagner
Oncology Rehabilitation in Practice
This article summarizes the 2024-27 strategic plan of the Academy of Oncologic Physical Therapy. The strategic plan consists of five strategic pillars — advocacy, engagement, education, collaboration, and research. Although the strategic plan is slated for another review in 2027, the 2024-27 strategic plan sets forth the key initiatives to advance the field of cancer physical therapy and oncology rehabilitation. This piece summarizes some key initiatives and how the academy and the profession will aim to achieve the APTA and APTA Oncology visions. For the full 2024-27 strategic plan of APTA Oncology, visit www.oncologypt.org.
Axillary Web Syndrome (Aws) In Absence Of Breast Cancer History Or Surgery: A Case Report, David B. Locke, Linda Koehler
Axillary Web Syndrome (Aws) In Absence Of Breast Cancer History Or Surgery: A Case Report, David B. Locke, Linda Koehler
Oncology Rehabilitation in Practice
Background: Axillary web syndrome (AWS) is a complication of breast cancer surgery with axillary lymph node removal. Cords are found within 2 weeks post-surgery in the axillary area of the operated side, and many extend down the arm or into the lateral chest wall. The purpose of this report is to present a unique case of idiopathic AWS, and to increase awareness of non-cancer related AWS in the medical community.
Case Description: A 39-year-old healthy female presented to physiotherapy with a 2-week history of a palpable tight cord in her left axilla without history of cancer or surgery. She sought …
The Therapeutic Effects Of A High-Velocity Resistance Training Intervention For Chemotherapy-Induced Polyneuropathy, Mariah Gleeson, Lori Boright, Elise C. Brown, Deborah Doherty
The Therapeutic Effects Of A High-Velocity Resistance Training Intervention For Chemotherapy-Induced Polyneuropathy, Mariah Gleeson, Lori Boright, Elise C. Brown, Deborah Doherty
Oncology Rehabilitation in Practice
Purpose: Chemotherapy-induced polyneuropathy, also referred to as chemotherapy-induced peripheral neuropathy (CIPN), is a dose-dependent, neurotoxicity from known neuropathic agents (e.g., taxanes, platinums, and vinca alkaloids) causing damage to the peripheral nervous system. CIPN can present as sensory, motor, or autonomic symptoms, such as muscle weakness and balance impairments. Currently, there are no treatment or prevention methods for CIPN. The purpose of this case series was to assess the therapeutic effects of a high velocity resistance training (HVRT), or power training, in women diagnosed and treated for cancer, who presented with CIPN by measuring balance, functional performance, neuropathy, quality of life …
Importance Of Objective Assessment To Determine Physical Function In Persons Undergoing Autologous Hematopoietic Stem Cell Transplantation, Anne Swisher
Oncology Rehabilitation in Practice
No abstract provided.
Editorial Board Message—Coming Soon: Research Roundups
Editorial Board Message—Coming Soon: Research Roundups
Oncology Rehabilitation in Practice
No abstract provided.
Cover And Front Matter, Volume 2, Issue 1
Cover And Front Matter, Volume 2, Issue 1
Oncology Rehabilitation in Practice
No abstract provided.
Embracing Professional Bravery And Inclusion: Overcoming Imposter Syndrome And Advancing Oncology Physical Therapy, Christopher M. Wilson
Embracing Professional Bravery And Inclusion: Overcoming Imposter Syndrome And Advancing Oncology Physical Therapy, Christopher M. Wilson
Oncology Rehabilitation in Practice
Oncology physical therapists (PTs) and physical therapist assistants (PTAs) play a crucial role in cancer care but often struggle with imposter syndrome, which can hinder professional confidence and interdisciplinary collaboration. Addressing these feelings is essential to ensuring optimal patient outcomes and advancing the field of oncology rehabilitation. This article explores the importance of mentorship, inclusivity, and professional bravery in overcoming self-doubt and advocating for the recognition of oncology rehabilitation within healthcare systems. By fostering a welcoming professional community and proactively seeking leadership opportunities, PTs and PTAs can enhance patient care and establish their essential role in oncology treatment. The future …
Determinants Of Neuronal Viability Following Spreading Depolarization, Michael C. Bennett
Determinants Of Neuronal Viability Following Spreading Depolarization, Michael C. Bennett
Biomedical Sciences ETDs
Spreading depolarizations (SDs) are massive, slowly propagating waves that cause near-complete neuroglial depolarization and are energetically demanding for the brain. Past studies have established SDs as key contributors to secondary injury in tissue that lacks the metabolic supply to meet the energetic burden of repolarization after SD. Efforts to identify the mechanisms that cause deleterious consequences following SD have been ongoing, with significant results showing that blocking excitotoxic levels of Ca2+ from entering neurons through NMDA receptors prevents detrimental outcomes. While these studies have advanced the field, other mechanisms may also contribute to the metabolic burden of SD. This …
Improving Same-Day Access To Highly Effective Contraceptives In Middle Tennessee, Jillian Gunderson, Elizabeth Morse, David Phillippi
Improving Same-Day Access To Highly Effective Contraceptives In Middle Tennessee, Jillian Gunderson, Elizabeth Morse, David Phillippi
DNP Projects
Project Title: Improving Same-day Access To Highly Effective Contraceptives In Middle Tennessee
Background and Rationale: Long-acting reversible contraceptives (LARC) are highly effective at preventing pregnancy at 99%. A two-visit protocol is a known barrier to access. The American College of Obstetricians and Gynecologists recommends same-day placement to increase access to LARC. A Step Ahead Middle Tennessee (ASA) is a non-profit organization partnered with Belmont University that provides free, long-acting reversible contraceptives. However, most ASA clinical partners offer services with a two-visit protocol, and there is no process to identify patient preference for same-day placement.
Purpose: The primary purpose of this …
Food Allergies On The College Campus: Increasing Awareness, Kelly Wagner
Food Allergies On The College Campus: Increasing Awareness, Kelly Wagner
DNP Projects
Project Title: Food Allergies on the College Campus: Increasing Awareness
Background and Rationale: The prevalence of food allergies in the United States is high and continues to increase, affecting approximately 32 million people (10.8% of the population). Food allergies are a chronic disease, and students transitioning to college are in the age group that experiences the highest rate of lethal anaphylactic reactions related to food allergies. Current best practice guidelines recommend that colleges should have a comprehensive, campus-wide approach to food allergy awareness, management, and emergency protocol. At a midsize southeastern university, there was no campus-wide approach to addressing the …
Diabetic Foot Ulcer Recurrence In Hispanic Americans: A Growing Concern, Daniela Lizbeth Avilez, Amanda Killeen
Diabetic Foot Ulcer Recurrence In Hispanic Americans: A Growing Concern, Daniela Lizbeth Avilez, Amanda Killeen
School of Podiatric Medicine - Student Research
Background: Diabetic foot ulcers (DFUs) represent a critical public health concern among Hispanic populations, contributing significantly to healthcare disparities and an elevated risk of amputations. Although Hispanic Americans account for 11.7% of the U.S. population with diabetes, they experience disproportionately higher rates of DFUs and amputations compared to non-Hispanic White individuals. Additionally, Hispanic adults exhibit lower rates of attempted revascularization, which exacerbates their susceptibility to severe complications. As the Hispanic population continues to grow, particularly in Texas, addressing DFU recurrence is crucial for improving clinical outcomes and reducing health inequities. This review evaluates evidence on DFU recurrence within Hispanic populations. …
The Impact Of Energy Intake And Macronutrient Distribution On Recovery Rates In Young Women With Functional Hypothalamic Amenorrhea, Hadley Day, Rebecca Lyons, Taylor Vas
The Impact Of Energy Intake And Macronutrient Distribution On Recovery Rates In Young Women With Functional Hypothalamic Amenorrhea, Hadley Day, Rebecca Lyons, Taylor Vas
Department of Nutrition Student Projects
Functional hypothalamic amenorrhea (FHA) is characterized by irregular or absent menstrual cycles due to disturbances in the hypothalamic-pituitary-ovarian (HPO) axis. Young women ages 18-25 are particularly vulnerable to FHA, which can have long-term consequences on bone health, fertility, and overall well-being. While meeting energy needs is essential for recovery, the question arises of whether different macronutrient distributions within an energy-sufficient diet influence the recovery rate. This study aims to evaluate the impact of varying macronutrient compositions on the recovery of young women with FHA. The study will be conducted using a randomized controlled trial design to examine whether diets with …
Hexasodium Fytate (Snf472 Or Csl525) Inhibits Ectopic Calcification In Various Pseudoxanthoma Elasticum And Calcinosis Cutis Animal Models, Miguel Ferrer, Maria Pérez-Ferrer, Marc Blasco, Ida Jacobs, Qiaoli Li, Olivier Vanakker, Lisa Dangreau, Andrea López, Gianluca Malagraba, Firas Bassissi, Joan Perelló, Carolina Salcedo
Hexasodium Fytate (Snf472 Or Csl525) Inhibits Ectopic Calcification In Various Pseudoxanthoma Elasticum And Calcinosis Cutis Animal Models, Miguel Ferrer, Maria Pérez-Ferrer, Marc Blasco, Ida Jacobs, Qiaoli Li, Olivier Vanakker, Lisa Dangreau, Andrea López, Gianluca Malagraba, Firas Bassissi, Joan Perelló, Carolina Salcedo
Department of Biochemistry and Molecular Biology Faculty Papers
Background/Objectives: Ectopic calcification is a pathological condition characterized by the mineralization of soft tissues due to the deposition of calcium phosphate crystals. Hexasodium fytate (CSL525, previously known as SNF472) is a crystallization inhibitor being developed for the treatment of ectopic calcification-related disorders. Our aim was to investigate CSL525 for the treatment of soft-tissue calcification disorders in animal models of pseudoxanthoma elasticum and calcinosis cutis. Methods: In a first study, abcc6-/- zebrafish larvae were exposed to 1 mM CSL525 for 7 days or kept under the same conditions without CSL525, and spinal mineralization was quantified. In a second study, abcc6 …
Impact Of Hidden Populations Through Faculty Identification And Intervention In Higher Education, Jimmie K. Wetmore
Impact Of Hidden Populations Through Faculty Identification And Intervention In Higher Education, Jimmie K. Wetmore
Doctor of Nursing Practice Projects
College students who have endured trauma through experiences in the foster care system, homelessness, justice system involvement, poverty, violence, and/or abuse are at greater risk of not completing college and returning to the circumstances that perpetrated their initial traumas. These students are known as “hidden populations.” Mentorship and resources can help these students to break the social and economic cycles that have placed them in a high-risk category. Higher education faculty are in a unique position to help bridge the gap that exists for these students. The problem can be impacted by more faculty being aware of the population and …
Empowering Coaches: Building A Resource Hub For Accessibility, Inclusion, And Preparedness, Emily F. Mcguckin
Empowering Coaches: Building A Resource Hub For Accessibility, Inclusion, And Preparedness, Emily F. Mcguckin
OTD Capstone Projects
Flip for Function is a therapeutic gymnastics and adaptive athletics organization that incorporates occupational therapy throughout to promote self-confidence and play for children with disabilities. The purpose of this doctoral capstone was to create a resource guide and kit to assist coaches in being prepared in an inclusive environment. This capstone project focused on creating a physical and electronic deliverable of gymnastics drills and strategies, and a coach’s kit. The physical deliverable contained a list of drills for various gymnastics skills on vault/trampoline, bars, beam and floor with explanations on how to complete each drill and adaptations, as well as …
04.14.2025 Ored Connect, Liz Williamson
04.14.2025 Ored Connect, Liz Williamson
ORED Newsletter
Updated CITI Training Courses
Science Celebration
IHL Prepayment Approval
Parenting With Peace: A Childhood Anxiety Education Program, Grace Arnold, Angela Blackwell, Teri Jetter, Msot
Parenting With Peace: A Childhood Anxiety Education Program, Grace Arnold, Angela Blackwell, Teri Jetter, Msot
Spring 2025 OTD Capstone Symposium
The Parenting with Peace education program offers a comprehensive education program to parents of children with Anxiety. The program delves into the topics of self-regulation, emotional regulation, etc. The program offers parents information on each topic, information on how parenting impacts the topic, and at-home interventions that parents can engage in to help support their child. The program can help parents address the goal of improving competency about childhood anxiety symptoms and self-regulation techniques, improving their ability to engage in the occupation of caregiver.
Virtual Reality Respiratory Biofeedback In An Outpatient Pediatric Pain Rehabilitation Program: Mixed Methods Pilot Study, Kristin Recker, Julia Silliman, Karolina Gifford, Parth Patel, Lisgelia Santana, Aimee K. Hildenbrand, Shreela Palit, Rachel Wasserman
Virtual Reality Respiratory Biofeedback In An Outpatient Pediatric Pain Rehabilitation Program: Mixed Methods Pilot Study, Kristin Recker, Julia Silliman, Karolina Gifford, Parth Patel, Lisgelia Santana, Aimee K. Hildenbrand, Shreela Palit, Rachel Wasserman
Department of Pediatrics Faculty Papers
BACKGROUND: Chronic pain in adolescents is a significant and growing concern, as it can have negative implications on physical and psychosocial development. Management can be complicated by the increasing risks associated with opioid misuse, highlighting the need for effective nonpharmacological interventions. Biofeedback is an empirically supported behavioral intervention for chronic pain that targets the self-regulation of physiological responses. Virtual reality (VR) is a novel delivery method for biofeedback that could serve as an engaging and effective platform for adolescents.
OBJECTIVE: The goal of this study was to assess the feasibility, acceptability, and preliminary effectiveness of integrating a VR-delivered respiratory biofeedback …
Vacuum Erectile Devices For Erectile Dysfunction: Recommendations From The 5th International Consultation On Sexual Medicine, Run Wang, Francisco E Martins, David Ralph, Georgios Hatzichristodoulou, Daniar Osmonov, Justin Parker, Sung Hun Sean Park, Ignacio Moncada, Carlo Bettocchi, Ricardo Munarriz, Tobias Köhler
Vacuum Erectile Devices For Erectile Dysfunction: Recommendations From The 5th International Consultation On Sexual Medicine, Run Wang, Francisco E Martins, David Ralph, Georgios Hatzichristodoulou, Daniar Osmonov, Justin Parker, Sung Hun Sean Park, Ignacio Moncada, Carlo Bettocchi, Ricardo Munarriz, Tobias Köhler
Faculty, Staff and Student Publications
Introduction: Vacuum erectile device (VED) is 1 of the main approved therapies for erectile dysfunction (ED). The introduction of phosphodiesterase type 5 inhibitor (PDE5i) for ED significantly changed the roles of VED in contemporary sexual medicine.
Objective: To provide updated clinical evidence to inform health care providers on best practices with VED.
Methods: A consensus panel was held with leading sexual medicine experts during the 5th International Consultation on Sexual Medicine (ICSM). Relevant peer-reviewed literature was reviewed with focus on research from the last 10 years, but not limited to the last 10 years. The expert panel generated consensus statements …
Integrating Short-Read And Long-Read Single-Cell Rna Sequencing For Comprehensive Transcriptome Profiling In Mouse Retina, Soo Hwan Oh, Yexuan Cao, Rui Chen
Integrating Short-Read And Long-Read Single-Cell Rna Sequencing For Comprehensive Transcriptome Profiling In Mouse Retina, Soo Hwan Oh, Yexuan Cao, Rui Chen
Faculty, Staff and Students Publications
The vast majority of protein-coding genes in the human genome produce multiple mRNA isoforms through alternative splicing, significantly enhancing the complexity of the transcriptome and proteome. To establish an efficient method for characterizing transcript isoforms within tissue samples, we conducted a systematic comparison between single-cell long-read and conventional short-read RNA sequencing techniques. The transcriptome of approximately 30,000 mouse retina cells was profiled using 1.54 billion Illumina short reads and 1.40 billion Oxford Nanopore Technologies long reads. Consequently, we identify 44,325 transcript isoforms, with a notable 38% previously uncharacterized and 17% expressed exclusively in distinct cellular subclasses. We observe that long-read …
Closing The Gaps, And Improving Somatic Structural Variant Analysis And Benchmarking Using Chm13-T2t, Erin Pleasance, Vanessa L Porter, Steven J M Jones, Fritz J Sedlazeck
Closing The Gaps, And Improving Somatic Structural Variant Analysis And Benchmarking Using Chm13-T2t, Erin Pleasance, Vanessa L Porter, Steven J M Jones, Fritz J Sedlazeck
Faculty, Staff and Students Publications
The complexities of cancer genomes are becoming more easily interpreted due to advancements in sequencing technologies and improved bioinformatic analysis. Structural variants (SVs) represent an important subset of somatic events in tumors. While the detection of SVs has been markedly improved by the development of long-read sequencing, somatic variant identification and annotation remain challenging. We hypothesized that the use of a completed human reference genome (CHM13-T2T) would improve somatic SV calling. Our findings in a tumor-normal matched benchmark sample and three patient samples show that the CHM13-T2T improves SV detection accuracy compared to GRCh38 with a notable reduction in false-positive …
Update On Cancer And Central Nervous System Tumor Surveillance In Pediatric Nf2-, Smarcb1-, And Lztr1-Related Schwannomatosis, Mary-Louise C Greer, Sarah R Scollon, Sarah G Mitchell, Jordan R Hansford, Kris Ann P Schultz, Wendy K Kohlmann, Jennifer M Kalish, Suzanne P Macfarland, Anirban Das, Kara N Maxwell, Stefan M Pfister, Rosanna Weksberg, Orli Michaeli, Uri Tabori, Gina M Ney, Philip J Lupo, Jack J Brzezinski, Douglas R Stewart, Emma R Woodward, Christian P Kratz
Update On Cancer And Central Nervous System Tumor Surveillance In Pediatric Nf2-, Smarcb1-, And Lztr1-Related Schwannomatosis, Mary-Louise C Greer, Sarah R Scollon, Sarah G Mitchell, Jordan R Hansford, Kris Ann P Schultz, Wendy K Kohlmann, Jennifer M Kalish, Suzanne P Macfarland, Anirban Das, Kara N Maxwell, Stefan M Pfister, Rosanna Weksberg, Orli Michaeli, Uri Tabori, Gina M Ney, Philip J Lupo, Jack J Brzezinski, Douglas R Stewart, Emma R Woodward, Christian P Kratz
Faculty, Staff and Students Publications
Schwannomatosis (SWN) is a distinct cancer predisposition syndrome caused by germline pathogenic variants in the genes NF2, SMARCB1, or LZTR1. There is a significant clinical overlap between these syndromes with the hallmark of increased risk for cranial, spinal, and peripheral schwannomas. Neurofibromatosis type 2 was recently renamed as NF2-related SWN and is the most common SWN syndrome, with increased risk for bilateral vestibular schwannomas, intradermal schwannomas, meningiomas, and less commonly, ependymoma. SMARCB1-related SWN is a familial SWN syndrome associated with peripheral and spinal schwannomas and an increased risk for meningiomas and malignant peripheral nerve sheath tumors, even in the absence …