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Full-Text Articles in Medicine and Health Sciences

Attitudes Of Female Carriers Of X-Linked Hypohidrotic Ectodermal Dysplasia Towards Prenatal Treatment And Their Decisions During A Pregnancy With A Male Fetus, Holm Schneider, Michael Schneider, Massimiliano Lia, Dorothy K Grange, Smail Hadj-Rabia, Angus Clarke, Mary Fete, Agnes Jaulent, Marlene Guiraud, Anthony Odibo, Florian Faschingbauer Apr 2025

Attitudes Of Female Carriers Of X-Linked Hypohidrotic Ectodermal Dysplasia Towards Prenatal Treatment And Their Decisions During A Pregnancy With A Male Fetus, Holm Schneider, Michael Schneider, Massimiliano Lia, Dorothy K Grange, Smail Hadj-Rabia, Angus Clarke, Mary Fete, Agnes Jaulent, Marlene Guiraud, Anthony Odibo, Florian Faschingbauer

2020-Current year OA Pubs

BACKGROUND: X-linked hypohidrotic ectodermal dysplasia (XLHED) is a severe genetic disorder that may be treatable with short-term protein replacement therapy during fetal development. This is currently being investigated in a multicenter clinical trial. Affected fetuses can be identified by the number of tooth germs during a routine ultrasound scan in mid-gestation. To understand the attitudes of female XLHED carriers towards prenatal treatment and ultrasonographic screening of the fetus, we analyzed an earlier and a very recent survey among those women and the actual decisions of potential trial participants.

METHODS: Initial analyses were based on a self-administered survey of 167 female …


Cerebrospinal Fluid Proteomics Identification Of Biomarkers For Amyloid And Tau Pet Stages, Zhibo Wang, Yuhan Chen, Katherine Gong, Bote Zhao, Yuye Ning, Meilin Chen, Yan Li, Muhammad Ali, Jigyasha Timsina, Menghan Liu, Carlos Cruchaga, Jianping Jia Apr 2025

Cerebrospinal Fluid Proteomics Identification Of Biomarkers For Amyloid And Tau Pet Stages, Zhibo Wang, Yuhan Chen, Katherine Gong, Bote Zhao, Yuye Ning, Meilin Chen, Yan Li, Muhammad Ali, Jigyasha Timsina, Menghan Liu, Carlos Cruchaga, Jianping Jia

2020-Current year OA Pubs

Accurate staging of Alzheimer's disease (AD) pathology is crucial for therapeutic trials and prognosis, but existing fluid biomarkers lack specificity, especially for assessing tau deposition severity, in amyloid-beta (Aβ)-positive patients. We analyze cerebrospinal fluid (CSF) samples from 136 participants in the Alzheimer's Disease Neuroimaging Initiative using more than 6,000 proteins. We apply machine learning to predict AD pathological stages defined by amyloid and tau positron emission tomography (PET). We identify two distinct protein panels: 16 proteins, including neurofilament heavy chain (NEFH) and SPARC-related modular calcium-binding protein 1 (SMOC1), that distinguished Aβ-negative/tau-negative (A-T-) from A+ individuals and nine proteins, such as …


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 Apr 2025

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 Apr 2025

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 …


Immunotherapeutic Strategies In Head And Neck Cancer: Challenges And Opportunities, Xia Liu, R. Alex Harbison, Mark A. Varvares, Sidharth V. Puram, Guangyong Peng Apr 2025

Immunotherapeutic Strategies In Head And Neck Cancer: Challenges And Opportunities, Xia Liu, R. Alex Harbison, Mark A. Varvares, Sidharth V. Puram, Guangyong Peng

2020-Current year OA Pubs

HNSCC remains a substantial health issue, with treatment options including surgery, radiation, and platinum-based chemotherapy. Unfortunately, despite progress in research, only modest gains have been made in disease control, with existing treatments resulting in significant functional and quality-of-life issues. The introduction of immunotherapy in the treatment of HNSCC has resulted in some improvements in outlook for patients and is now standard of care for populations with both recurrent and metastatic disease. However, despite the early successes, responses to immune checkpoint inhibition (ICI) remain modest to low, approaching 14%-22% objective response rates. Challenges to the effectiveness of ICI and other immunotherapies …


Understanding Implementation Determinants Of Universal School Meals Through An Equity-Driven Mixed Methods Approach, Gabriella M Mcloughlin, Molly Kerstetter, Yerusalem Yohannes, Omar Martinez, Resa M Jones, Ross C Brownson, Jennifer O Fisher Apr 2025

Understanding Implementation Determinants Of Universal School Meals Through An Equity-Driven Mixed Methods Approach, Gabriella M Mcloughlin, Molly Kerstetter, Yerusalem Yohannes, Omar Martinez, Resa M Jones, Ross C Brownson, Jennifer O Fisher

2020-Current year OA Pubs

BACKGROUND: Policies, such as Universal School Meals (USM), are essential for preventing inequities in chronic disease risk among socially and economically marginalized populations. Implementing USM reduces food insecurity and obesity risk, among other academic/health outcomes; unfortunately, across the nation student participation (i.e., reach) is lower than expected, limiting its public health impact. Grounded in implementation science and health equity frameworks, this study aimed to: 1) investigate the determinants of implementing USM in a large, urban school district and 2) assess key challenges and supports across schools with varying levels of participation in USM.

METHODS: A needs and assets assessment was …


Atm-Dependent Dna Damage Response Constrains Cell Growth And Drives Clonal Hematopoiesis In Telomere Biology Disorders, Christopher M. Sande, Karolyn A. Oetjen, Daniel C. Link, Andrew E. Gelman, Laneshia K. Tague, Et Al. Apr 2025

Atm-Dependent Dna Damage Response Constrains Cell Growth And Drives Clonal Hematopoiesis In Telomere Biology Disorders, Christopher M. Sande, Karolyn A. Oetjen, Daniel C. Link, Andrew E. Gelman, Laneshia K. Tague, Et Al.

2020-Current year OA Pubs

Telomere biology disorders (TBDs) are genetic diseases caused by defective telomere maintenance. TBD patients often develop bone marrow failure and have an increased risk of myeloid neoplasms. To better understand the factors underlying hematopoietic outcomes in TBD, we comprehensively evaluated acquired genetic alterations in hematopoietic cells from 166 pediatric and adult TBD patients. Of these patients, 47.6% (28.8% of children, 56.1% of adults) had clonal hematopoiesis. Recurrent somatic alterations involved telomere maintenance genes (7.6%), spliceosome genes (10.4%, mainly U2AF1 p.S34), and chromosomal alterations (20.2%), including 1q gain (5.9%). Somatic variants affecting the DNA damage response (DDR) were identified in 21.5% …


Vision For The Future Of Oncology Physical Therapy: Apta Oncology’S Strategic Plan, Christopher M. Wilson, Emily Compagner Apr 2025

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 Apr 2025

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 Apr 2025

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 Apr 2025

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 Apr 2025

Editorial Board Message—Coming Soon: Research Roundups

Oncology Rehabilitation in Practice

No abstract provided.


Cover And Front Matter, Volume 2, Issue 1 Apr 2025

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 Apr 2025

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 …


Intouch Week Of April 14, 2025, New York Medical College Apr 2025

Complexity, Coordination, And The Politics Of Global Health Emergencies: Institutions, Actors, And Responses, Jennifer M. Kerner Apr 2025

Complexity, Coordination, And The Politics Of Global Health Emergencies: Institutions, Actors, And Responses, Jennifer M. Kerner

Political Science ETDs

This dissertation examines the politics of global health emergencies through three interconnected studies. First, it analyzes the declaration of Public Health Emergencies of International Concern (PHEICs), revealing that while World Health Organization (WHO) protocols influence decisions, political factors may also play a role. Second, a case study of the 2014 Ebola outbreak explores the complexities of international response coordination. It highlights the importance of established protocols, clear leadership, and effective communication, while also noting the challenges posed by resource constraints and inter-organizational dynamics. Third, the research investigates the impact of military involvement in global health emergencies. It reveals that military …


Diabetic Foot Ulcer Recurrence In Hispanic Americans: A Growing Concern, Daniela Lizbeth Avilez, Amanda Killeen Apr 2025

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. …


Association Between High Triglyceride-Glucose Index And Macce In Hypertriglyceridemia Patients Undergoing Percutaneous Coronary Intervention, Yichuan Wang, Yanfeng Lu, Shanshan Gao, Zhong Zhong, Jasmine Bao, Bo Liu, Ruihan Fan, Ning Guo Apr 2025

Association Between High Triglyceride-Glucose Index And Macce In Hypertriglyceridemia Patients Undergoing Percutaneous Coronary Intervention, Yichuan Wang, Yanfeng Lu, Shanshan Gao, Zhong Zhong, Jasmine Bao, Bo Liu, Ruihan Fan, Ning Guo

SKMC Student Presentations and Publications

BACKGROUND: With a focus on metabolism-related cardiovascular diseases, the triglyceride-glucose (TyG) index has been used as a surrogate marker of insulin resistance in the prognosis of coronary heart disease. However, the prognostic role of the TyG index in patients with elevated triglycerides, still requires further research. This study aimed to investigate the association between the TyG index and Major Adverse Cardiac and Cerebrovascular Events (MACCE) in patients with hypertriglyceridemia undergoing drug-eluting stent percutaneous coronary intervention (DES-PCI).

METHODS: Out of 2250 patients, 813 with hypertriglyceridemia who underwent DES-PCI were retrospectively analyzed. MACCE was regarded as the primary endpoint. Kaplan-Meier (KM) curves …


The Impact Of Energy Intake And Macronutrient Distribution On Recovery Rates In Young Women With Functional Hypothalamic Amenorrhea, Hadley Day, Rebecca Lyons, Taylor Vas Apr 2025

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 …


Empowering Coaches: Building A Resource Hub For Accessibility, Inclusion, And Preparedness, Emily F. Mcguckin Apr 2025

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 Apr 2025

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 Apr 2025

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.


Impact Of Hidden Populations Through Faculty Identification And Intervention In Higher Education, Jimmie K. Wetmore Apr 2025

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 …


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 Apr 2025

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 …


Improving Same-Day Access To Highly Effective Contraceptives In Middle Tennessee, Jillian Gunderson, Elizabeth Morse, David Phillippi Apr 2025

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 Apr 2025

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 …


Exploring The Lived Experiences Of Menstrual Hygiene Management Among In-School Visually Impaired Adolescent Girls In Rwanda: A Phenomenological Study, Marie Laetitia Ishimwe Bazakare, Gerard Kaberuka Kaberuka, Aimable Nkurunziza, Justine Bagirisano, Godfrey Katende Apr 2025

Exploring The Lived Experiences Of Menstrual Hygiene Management Among In-School Visually Impaired Adolescent Girls In Rwanda: A Phenomenological Study, Marie Laetitia Ishimwe Bazakare, Gerard Kaberuka Kaberuka, Aimable Nkurunziza, Justine Bagirisano, Godfrey Katende

School of Nursing & Midwifery, East Africa

Background In low-income countries, many menstruating persons continue to face numerous challenges regarding menstrual hygiene management. Visual impairment further compounds the difficulties faced by in-school adolescent girls, but little is known about its consequences in Rwanda. Objective To explore the lived experiences of menstrual hygiene management among in-school visually impaired adolescent girls in Rwanda. Design descriptive phenomenology. Methods This study was conducted in four specialized educational institutions for visually impaired students in Rwanda. We conducted four focus group discussions with 25 visually impaired adolescent girls selected purposively. The seven steps of Colaizzi’s method were used to analyze the data. Results …


Germline Pathogenic Drosha Variants Are Linked To Pineoblastoma And Wilms Tumor Predisposition, Peter N Fiorica, Lisa Golmard, Jung Kim, Riyue Bao, Frank Y Lin, Angshumoy Roy, Allison Pribnow, Melissa R Perrino, Julien Masliah-Planchon, Sophie Michalak-Provost, Jennifer Wong, Mathilde Filser, Dominique Stoppa-Lyonnet, Franck Bourdeaut, Afane Brahimi, Olivier Ingster, Giselle Saulnier Sholler, Sarah A Jackson, Mark M Sasaki, Trent Fowler, Anita Ng, Ryan J Corbett, Rebecca S Kaufman, Jeremy S Haley, David J Carey, Kuan-Lin Huang, Sharon J Diskin, Jo Lynne Rokita, Hussam Al-Kateb, Rose B Mcgee, Joshua D Schiffman, Kenneth S Chen, Douglas R Stewart, D Williams Parsons, Sharon E Plon, Kris Ann P Schultz, Kenan Onel Apr 2025

Germline Pathogenic Drosha Variants Are Linked To Pineoblastoma And Wilms Tumor Predisposition, Peter N Fiorica, Lisa Golmard, Jung Kim, Riyue Bao, Frank Y Lin, Angshumoy Roy, Allison Pribnow, Melissa R Perrino, Julien Masliah-Planchon, Sophie Michalak-Provost, Jennifer Wong, Mathilde Filser, Dominique Stoppa-Lyonnet, Franck Bourdeaut, Afane Brahimi, Olivier Ingster, Giselle Saulnier Sholler, Sarah A Jackson, Mark M Sasaki, Trent Fowler, Anita Ng, Ryan J Corbett, Rebecca S Kaufman, Jeremy S Haley, David J Carey, Kuan-Lin Huang, Sharon J Diskin, Jo Lynne Rokita, Hussam Al-Kateb, Rose B Mcgee, Joshua D Schiffman, Kenneth S Chen, Douglas R Stewart, D Williams Parsons, Sharon E Plon, Kris Ann P Schultz, Kenan Onel

Center for Medical Ethics and Health Policy Staff Publications

Purpose: DROSHA, DGCR8, and DICER1 regulate miRNA biogenesis and are commonly mutated in cancer. Although DGCR8 and DICER1 germline pathogenic variants (GPV) cause autosomal dominant tumor predisposition, no association between DROSHA GPVs and clinical phenotypes has been reported.

Experimental design: After obtaining informed consent, sequencing was performed on germline and tumor samples from all patients. The occurrence of germline DROSHA GPVs was investigated in large pediatric and adult cancer datasets. The population prevalence of DROSHA GPVs was investigated in the UK Biobank and Geisinger DiscovEHR cohorts.

Results: We describe nine children from eight families with heterozygous DROSHA GPVs and a …


Determinants Of Neuronal Viability Following Spreading Depolarization, Michael C. Bennett Apr 2025

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 …


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 Apr 2025

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 …