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Articles 32191 - 32220 of 325309

Full-Text Articles in Medicine and Health Sciences

Revisiting Diagnostics: High Priority Tuberculosis Diagnostic Tests That Fill An Unmet Need: What We Need And What We Do Not Need, Christoph Lange, Anna Maria Mandalakas, Troels Lillebaek, Dumitru Chesov, Keertan Dheda, Francesca Saluzzo Mar 2025

Revisiting Diagnostics: High Priority Tuberculosis Diagnostic Tests That Fill An Unmet Need: What We Need And What We Do Not Need, Christoph Lange, Anna Maria Mandalakas, Troels Lillebaek, Dumitru Chesov, Keertan Dheda, Francesca Saluzzo

Faculty, Staff and Students Publications

No abstract provided.


Pseudotumor Tensor Fascia Lata Syndrome From Underlying Severe Lumbar Stenosis: A Case Report, Zane Shah, Won J Jeong, Wyatt I Kupperman, Yonghoon Lee Mar 2025

Pseudotumor Tensor Fascia Lata Syndrome From Underlying Severe Lumbar Stenosis: A Case Report, Zane Shah, Won J Jeong, Wyatt I Kupperman, Yonghoon Lee

Faculty, Staff and Students Publications

A pseudotumor of the tensor fascia lata (TFL) describes a rare condition characterized by hypertrophy or pseudohypertrophy of the TFL that can mimic a soft tissue mass. Without the right clinical suspicion, it can be misdiagnosed as a benign or malignant soft tissue tumor, leading to oncologic workups. Unnecessary workups can cause patient distress, waste resources, and delay the management of the condition and its associated symptoms. Here, we describe a 65-year-old male who developed a pseudotumor of the TFL in the setting of severe lumbar spinal stenosis. The etiology for this patient was suspected to be a combination of …


Which Systemic Responses Should We Evolve To Help Surgeons Navigate Their Regret Experiences?, Ryan X Lam, Ruhi Thapar, Eric J Silberfein, Lorenzo R Deveza Mar 2025

Which Systemic Responses Should We Evolve To Help Surgeons Navigate Their Regret Experiences?, Ryan X Lam, Ruhi Thapar, Eric J Silberfein, Lorenzo R Deveza

Faculty, Staff and Students Publications

Regret in surgical practice is typically construed as resulting from the commission or the omission of a specific action at a specific decision point, which leads to a deleterious outcome. This article suggests a need to expand this conception of surgical regret to better account for surgeons' regret experiences arising from factors beyond their control. The commentary accompanying the case investigates these external sources of regret, such as resource limitations or professional interpersonal dynamics that prevent a desired outcome from being realized. It also discusses the normative value of addressing surgeons' experiences of regret, especially as a catalyst to facilitate …


Exploration Of Cytokines And Microbiome Among Males And Females With Diarrhea-Predominant Irritable Bowel Syndrome, Li Juen Chen, Anna M Plantinga, Robert Burr, Kevin Cain, Pamela Barney, Tor Savidge, Robert J Shulman, Margaret Heitkemper, Kendra Kamp Mar 2025

Exploration Of Cytokines And Microbiome Among Males And Females With Diarrhea-Predominant Irritable Bowel Syndrome, Li Juen Chen, Anna M Plantinga, Robert Burr, Kevin Cain, Pamela Barney, Tor Savidge, Robert J Shulman, Margaret Heitkemper, Kendra Kamp

Faculty, Staff and Students Publications

Background: Whether pathophysiological factors differ between males and females with irritable bowel syndrome-diarrhea (IBS-D) remains to be tested. To better understand potential sex differences, males with IBS-D were compared to naturally cycling females and to females with IBS-D taking hormonal contraception on plasma levels of cytokines and gut microbiome characteristics.

Methods: Males and females with Rome III IBS-D completed questionnaires and kept a daily symptom diary for 28 days. Blood and stool samples were collected between days 3 and 8 of the daily diary (estrogen-dominant days in naturally cycling females). Blood samples were analyzed for lipopolysaccharide (LPS)-stimulated and unstimulated cytokine …


Reply: A Positive Step Toward Cost-Effective And Accessible Hcc Detection Awaits Further Validation, Hashem B El-Serag, Qingchun Jin, Tayob Nabihah Mar 2025

Reply: A Positive Step Toward Cost-Effective And Accessible Hcc Detection Awaits Further Validation, Hashem B El-Serag, Qingchun Jin, Tayob Nabihah

Faculty, Staff and Students Publications

No abstract provided.


Advances In Idiopathic Pulmonary Fibrosis Diagnosis And Treatment, Hongli Liu, Jiaxi Shen, Chao He Mar 2025

Advances In Idiopathic Pulmonary Fibrosis Diagnosis And Treatment, Hongli Liu, Jiaxi Shen, Chao He

Faculty, Staff and Students Publications

Significant advances have been made in diagnosing and treating idiopathic pulmonary fibrosis (IPF) in the last decade. The incidence and prevalence of IPF are increasing, and morbidity and mortality remain high despite the two Food and Drug Administration (FDA)-approved medications, pirfenidone and nintedanib. Hence, there is an urgent need to develop new diagnostic tools and effective therapeutics to improve early, accurate diagnosis of IPF and halt or reverse the progression of fibrosis with a better safety profile. New diagnostic tools such as transbronchial cryobiopsy and genomic classifier require less tissue and generally have good safety profiles, and they have been …


Canonical And Non-Canonical Functions Of The Non-Coding Rna Component (Terc) Of Telomerase Complex, Chongwen Cao, Weiyi Gong, Yuanlong Shuai, Sara Rasouli, Qianyun Ge, Anam Khan, Aleksandra Dakic, Nagireddy Putluri, Gennady Shvets, Yun-Ling Zheng, Danyal Daneshdoust, Rani Mahyoob, Jenny Li, Xuefeng Liu Mar 2025

Canonical And Non-Canonical Functions Of The Non-Coding Rna Component (Terc) Of Telomerase Complex, Chongwen Cao, Weiyi Gong, Yuanlong Shuai, Sara Rasouli, Qianyun Ge, Anam Khan, Aleksandra Dakic, Nagireddy Putluri, Gennady Shvets, Yun-Ling Zheng, Danyal Daneshdoust, Rani Mahyoob, Jenny Li, Xuefeng Liu

Faculty, Staff and Students Publications

The telomerase complex consists of a protein component (TERT), which has reverse transcriptase activity, and an RNA component (TERC), which serves as a template for telomere synthesis. Evidence is rapidly accumulating regarding the non-canonical functions of these components in both normal or diseased cells. An oligonucleotide-based drug, the first telomerase inhibitor, secured FDA approval in June 2024. We recently summarized the non-canonical functions of TERT in viral infections and cancer. In this review, we expand on these non-canonical functions of TERC beyond telomere maintenance. Specifically, we explore TERC's roles in cellular aging and senescence, immune regulation, genetic diseases, human cancer, …


Interdisciplinary Research Among Tourism, Public Health, And Global Health: A Promising Stream Focusing On Populations With Suboptimal Health Status, Jun Wen, Fangli Hu, Danni Zheng, Haifeng Hou, Wei Wang Mar 2025

Interdisciplinary Research Among Tourism, Public Health, And Global Health: A Promising Stream Focusing On Populations With Suboptimal Health Status, Jun Wen, Fangli Hu, Danni Zheng, Haifeng Hou, Wei Wang

Research outputs 2022 to 2026

Research suggests that approximately 75% of the world's population suffers from suboptimal health status, meaning these individuals often feel unwell but have no clearly diagnosable conditions. Suboptimal health status, originating from traditional Chinese medicine, signifies an intermediate state between health and disease. Tourism has been deemed beneficial for personal health and general well-being. More recently, it has been proposed as a non-pharmacological intervention for individuals with dementia, given its potential contributions to health promotion and disease prevention/treatment. Yet, the tourism literature has paid scarce attention to populations with suboptimal health status, even as an aging society becomes inevitable. This paper …


Acknowledging: A Classic Grounded Theory Explaining How Nurses' Employ Clinical Judgement When Complying With Early Warning System Protocols, Justine Connor, Tracy Flenady, Trudy Dwyer, Deb Massey Mar 2025

Acknowledging: A Classic Grounded Theory Explaining How Nurses' Employ Clinical Judgement When Complying With Early Warning System Protocols, Justine Connor, Tracy Flenady, Trudy Dwyer, Deb Massey

Research outputs 2022 to 2026

Background: Recognition and response to clinical deterioration of hospitalised patients is a worldwide health priority area. In response to this concern, international bodies have implemented early warning systems to help clinicians keep people safe and prevent patient deterioration. Registered nurses hold a significant role in managing care provision and utilise early warning system tools to support their clinical judgement when making decisions about patient care. Objective: To generate a theory explaining how registered nurses employ their clinical judgement when complying with an early warning system protocol. Design: Classic grounded theory. Participants: Participants included twenty registered nurses working with early warning …


Implementing A Nurse-Enabled, Integrated, Shared-Care Model Involving Specialists And General Practitioners In Early Breast Cancer Post-Treatment Follow-Up (Eminent): A Single-Centre, Open-Label, Phase 2, Parallel-Group, Pilot, Randomised, Controlled Trial, Raymond J. Chan, Fiona Crawford-Williams, Chad Yixian Han, Lee Jones, Alexandre Chan, Daniel Mckavanagh, Marissa Ryan, Christine Carrington, Rebecca L. Packer, Megan Crichton, Nicolas H. Hart, Emma Mckinnell, Melissa Gosper, Juanita Ryan, Bethany Crowe, Ria Joseph, Carolyn Ee, Jane Lee, Steven M. Mcphail, Katharine Cuff, Laisa Teleni, Jon Emery Mar 2025

Implementing A Nurse-Enabled, Integrated, Shared-Care Model Involving Specialists And General Practitioners In Early Breast Cancer Post-Treatment Follow-Up (Eminent): A Single-Centre, Open-Label, Phase 2, Parallel-Group, Pilot, Randomised, Controlled Trial, Raymond J. Chan, Fiona Crawford-Williams, Chad Yixian Han, Lee Jones, Alexandre Chan, Daniel Mckavanagh, Marissa Ryan, Christine Carrington, Rebecca L. Packer, Megan Crichton, Nicolas H. Hart, Emma Mckinnell, Melissa Gosper, Juanita Ryan, Bethany Crowe, Ria Joseph, Carolyn Ee, Jane Lee, Steven M. Mcphail, Katharine Cuff, Laisa Teleni, Jon Emery

Research outputs 2022 to 2026

Background: Current models of post-treatment cancer care rely heavily on hospital-based, medical specialists and do not sufficiently leverage primary care. Many breast cancer survivors face ongoing unmet needs that may benefit from a multidisciplinary, shared-care approach. We aimed to evaluate the feasibility and preliminary effectiveness of implementing nurse-enabled, shared-follow-up care between the acute and primary care setting for early-stage breast cancer. Methods: In this single-centre, open-label, phase II, pilot, randomised, controlled trial, individuals diagnosed with breast cancer (Stage 0–III) were randomised 1:1 to either usual care or intervention, which includes a 1) Specialist Nurse Consultation to co-develop a survivorship care …


Is It Underestimated Or Overestimated?, Zhuoqiao He, Xuerui Tan Mar 2025

Is It Underestimated Or Overestimated?, Zhuoqiao He, Xuerui Tan

Research outputs 2022 to 2026

No abstract provided.


Midwives Experience Of Working With Maternity Assistants: A Qualitative Study, Carol Crevacore, Annie De Leo, Peta Fisher, Sara Bayes Mar 2025

Midwives Experience Of Working With Maternity Assistants: A Qualitative Study, Carol Crevacore, Annie De Leo, Peta Fisher, Sara Bayes

Research outputs 2022 to 2026

Introduction: The midwifery workforce is essential for delivering safe, high-quality maternity care, however, global staffing shortages pose significant challenges. To address these issues, incorporating midwifery assistants, including undergraduate midwifery students into the model of care has been proposed as a strategy to support midwives and maintain effective service delivery. Aim: This study explores the Registered Midwives' experiences working with Midwifery Assistants (MAs) in an Australian tertiary maternity service. Methods: This study employed a qualitative exploratory design and was conducted using semi-structured interviews with 9 midwives who had experienced working with MAs in the tertiary maternity care setting. Results: The discussion …


Pulmonary Nodule Malignancy Probability: A Meta-Analysis Of The Brock Model, S. Chen, W. L. Lin, W. T. Liu, L. Y. Zou, Y. Chen, F. Lu Mar 2025

Pulmonary Nodule Malignancy Probability: A Meta-Analysis Of The Brock Model, S. Chen, W. L. Lin, W. T. Liu, L. Y. Zou, Y. Chen, F. Lu

Research outputs 2022 to 2026

Aim: This study aims to quantify the performance of the Brock model through a systematic review and meta-analysis and to clarify its overall accuracy in predicting malignant pulmonary nodules. Materials and Methods: A systematic search was conducted in databases including the Cochrane Library, Excerpta Medica database (EMBASE), MEDLINE, Web of Science, Chinese Biological Medicine Database (CBM), China National Knowledge Infrastructure (CNKI), VIP, and Wanfang from their inception until May 1, 2024, to collect observational cohort studies involving the Brock model. The primary outcome was the pooled area under the receiver operating characteristic curve (ROC) the area under curve (AUC) for …


Sex Differences In Grip Strength From Birth To Age 16: A Meta-Analysis, James L. Nuzzo Mar 2025

Sex Differences In Grip Strength From Birth To Age 16: A Meta-Analysis, James L. Nuzzo

Research outputs 2022 to 2026

In 1985, Thomas and French published results of a meta-analysis that examined sex differences in grip strength in children 5 years of age and older. Their analysis included results from only four studies, and no update has been published. The purpose of the current study was to use meta-analysis to examine sex differences in grip strength from birth to age 16. The analysis included 808 effects from 169 studies conducted in 45 countries between 1961 and 2023. The total sample was 353,676 (178,588 boys, 175,088 girls). From birth to 16 years of age, grip strength was consistently greater in boys …


Two-Phase Individual Assessments: A Second-Chance Assessment Strategy With Individualized Feedback To Promote Assessment For Learning., Munder Zagaar, Sandra B Haudek, Peter Boedeker Mar 2025

Two-Phase Individual Assessments: A Second-Chance Assessment Strategy With Individualized Feedback To Promote Assessment For Learning., Munder Zagaar, Sandra B Haudek, Peter Boedeker

Faculty, Staff and Students Publications

Problem: High-stakes multiple-choice question (MCQ) exams in medical education typically focus on assessment of learning at a single point without providing feedback for improvement. Educators can achieve a more balanced approach to MCQ exams by combining efficient assessment of learning with the feedback and improvement opportunities of assessment for learning.

Approach: As part of a curriculum renewal at Baylor College of Medicine's MD program, the Two-Phase Individual Assessment (TPIA) model was launched within a 4-week preclinical Foundations of Medicine course in August 2023. The TPIA model featured weekly assessments, each consisting of 2 MCQ exams given on the same day …


Inflammatory Markers And Calcification Of Coronary Arteries, Aorta And Cardiac Valves: Findings From The Atherosclerosis Risk In Communities Study, Vennela Avula, Yejin Mok, Kentaro Ejiri, Jeremy Van't Hof, Seamus P Whelton, Ron C Hoogeveen, Christie M Ballantyne, Matthew J Budoff, Michael J Blaha, Kunihiro Matsushita Mar 2025

Inflammatory Markers And Calcification Of Coronary Arteries, Aorta And Cardiac Valves: Findings From The Atherosclerosis Risk In Communities Study, Vennela Avula, Yejin Mok, Kentaro Ejiri, Jeremy Van't Hof, Seamus P Whelton, Ron C Hoogeveen, Christie M Ballantyne, Matthew J Budoff, Michael J Blaha, Kunihiro Matsushita

Faculty, Staff and Students Publications

Background: Inflammation plays an important role in the pathophysiology of atherosclerosis. However, inflammatory biomarkers have only been weakly associated with coronary artery calcium (CAC), a representative measure of subclinical atherosclerosis. Moreover, few studies explored extra-coronary calcium (ECC) in this context.

Aim: To characterize the association of two inflammatory markers, high-sensitivity C-reactive protein (hs-CRP) and galectin-3, at middle age with CAC and ECC at older age in a community-based cohort.

Methods: Cardiac CT was performed among 1,930 Atherosclerosis Risk in Communities (ARIC) study participants (age 73-95) without coronary heart disease at visit 7 (2018-19). We examined the associations of hs-CRP and …


Shifting Tuberculosis Dynamics In The Eu/Eea: Geographical And Drug Resistance Trends Among People Of Foreign Origin, 2019 To 2023, Anca Vasiliu, Veronica Cristea, Krista Stoycheva, Senia Rosales-Klintz, Christoph Lange, Dominik Zenner, Csaba Ködmön Mar 2025

Shifting Tuberculosis Dynamics In The Eu/Eea: Geographical And Drug Resistance Trends Among People Of Foreign Origin, 2019 To 2023, Anca Vasiliu, Veronica Cristea, Krista Stoycheva, Senia Rosales-Klintz, Christoph Lange, Dominik Zenner, Csaba Ködmön

Faculty, Staff and Students Publications

We observed shifting trends in tuberculosis (TB) epidemiology in the EU/EEA between 2019 and 2023. In 2023, TB notifications among people of foreign origin increased by 24.6% after decreasing between 2019 and 2020. The majority originated from African and East Mediterranean regions, with a 316.4% upsurge in TB among Ukrainians in 2022-23. Rifampicin-resistant/multidrug-resistant TB increased by ≥ 60% in 2019-23, mainly among Ukrainians. Rapid response to shifting epidemiological patterns is crucial for efficient TB prevention and control within the EU/EEA.


Modeling The Kinetics Of Interorgan Arginine Metabolism During Bacterial Sepsis In Swine, Caitlin Vonderohe, Douglas Burrin Mar 2025

Modeling The Kinetics Of Interorgan Arginine Metabolism During Bacterial Sepsis In Swine, Caitlin Vonderohe, Douglas Burrin

Faculty, Staff and Students Publications

No abstract provided.


Assessing The Predicted Impact Of Single Amino Acid Substitutions In Calmodulin For Cagi6 Challenges, Paola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, Emil Alexov, David B Ascher, Giulia Babbi, Constantina Bakolitsa, Rita Casadio, Piero Fariselli, Lukas Folkman, Akash Kamandula, Panagiotis Katsonis, Dong Li, Olivier Lichtarge, Pier Luigi Martelli, Shailesh Kumar Panday, Douglas E V Pires, Stephanie Portelli, Fabrizio Pucci, Carlos H M Rodrigues, Marianne Rooman, Castrense Savojardo, Martin Schwersensky, Yang Shen, Alexey V Strokach, Yuanfei Sun, Junwoo Woo, Predrag Radivojac, Steven E Brenner, Daniele Dell'orco, Emidio Capriotti Mar 2025

Assessing The Predicted Impact Of Single Amino Acid Substitutions In Calmodulin For Cagi6 Challenges, Paola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, Emil Alexov, David B Ascher, Giulia Babbi, Constantina Bakolitsa, Rita Casadio, Piero Fariselli, Lukas Folkman, Akash Kamandula, Panagiotis Katsonis, Dong Li, Olivier Lichtarge, Pier Luigi Martelli, Shailesh Kumar Panday, Douglas E V Pires, Stephanie Portelli, Fabrizio Pucci, Carlos H M Rodrigues, Marianne Rooman, Castrense Savojardo, Martin Schwersensky, Yang Shen, Alexey V Strokach, Yuanfei Sun, Junwoo Woo, Predrag Radivojac, Steven E Brenner, Daniele Dell'orco, Emidio Capriotti

Faculty, Staff and Students Publications

Recent thermodynamic and functional studies have been conducted to evaluate the impact of amino acid substitutions on Calmodulin (CaM). The Critical Assessment of Genome Interpretation (CAGI) data provider at University of Verona (Italy) measured the melting temperature (Tm) and the percentage of unfolding (%unfold) of a set of CaM variants (CaM challenge dataset). Thermodynamic measurements for the equilibrium unfolding of CaM were obtained by monitoring far-UV Circular Dichroism as a function of temperature. These measurements were used to determine the Tm and the percentage of protein remaining unfolded at the highest temperature.

The CaM challenge dataset, comprising a total of …


Assessing The Predicted Impact Of Single Amino Acid Substitutions In Mapk Proteins For Cagi6 Challenges, Paola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, Leonore Novak, Alessandra Pasquo, Emil Alexov, Muttaqi Ahmad Alladin, David B Ascher, Giulia Babbi, Constantina Bakolitsa, Rita Casadio, Jianlin Cheng, Piero Fariselli, Lukas Folkman, Akash Kamandula, Panagiotis Katsonis, Minghui Li, Dong Li, Olivier Lichtarge, Sajid Mahmud, Pier Luigi Martelli, Debnath Pal, Shailesh Kumar Panday, Douglas E V Pires, Stephanie Portelli, Fabrizio Pucci, Carlos H M Rodrigues, Marianne Rooman, Castrense Savojardo, Martin Schwersensky, Yang Shen, Alexey V Strokach, Yuanfei Sun, Junwoo Woo, Predrag Radivojac, Steven E Brenner, Roberta Chiaraluce, Valerio Consalvi, Emidio Capriotti Mar 2025

Assessing The Predicted Impact Of Single Amino Acid Substitutions In Mapk Proteins For Cagi6 Challenges, Paola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, Leonore Novak, Alessandra Pasquo, Emil Alexov, Muttaqi Ahmad Alladin, David B Ascher, Giulia Babbi, Constantina Bakolitsa, Rita Casadio, Jianlin Cheng, Piero Fariselli, Lukas Folkman, Akash Kamandula, Panagiotis Katsonis, Minghui Li, Dong Li, Olivier Lichtarge, Sajid Mahmud, Pier Luigi Martelli, Debnath Pal, Shailesh Kumar Panday, Douglas E V Pires, Stephanie Portelli, Fabrizio Pucci, Carlos H M Rodrigues, Marianne Rooman, Castrense Savojardo, Martin Schwersensky, Yang Shen, Alexey V Strokach, Yuanfei Sun, Junwoo Woo, Predrag Radivojac, Steven E Brenner, Roberta Chiaraluce, Valerio Consalvi, Emidio Capriotti

Faculty, Staff and Students Publications

New thermodynamic and functional studies have been recently conducted to evaluate the impact of amino acid substitutions on the Mitogen Activated Protein Kinases 1 and 3 (MAPK1/3). The Critical Assessment of Genome Interpretation (CAGI) data provider, at Sapienza University of Rome, measured the unfolding free energy and the enzymatic activity of a set of variants (MAPK challenge dataset). Thermodynamic measurements for the denaturant-induced equilibrium unfolding of the phosphorylated and unphosphorylated forms of the MAPKs were obtained by monitoring the far-UV circular dichroism and intrinsic fluorescence changes as a function of denaturant concentration. These values have been used to calculate the …


Causes Of Mortality In The Congenital Disorders Of Glycosylation, Hana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, Fernando Scaglia, Christina Lam, Eva Morava, Austin Larson, Andrew C Edmondson Mar 2025

Causes Of Mortality In The Congenital Disorders Of Glycosylation, Hana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, Fernando Scaglia, Christina Lam, Eva Morava, Austin Larson, Andrew C Edmondson

Faculty, Staff and Students Publications

Congenital Disorders of Glycosylation (CDG) are a group of some 200 genetic disorders with PMM2-CDG being the most common disease. These disorders individually remain rare with poorly understood natural history (NH) and causes of mortality. We established a NH study for CDG and collected both prospective and retrospective data on CDG outcomes. In the current data set analysis on deceased patients, we describe the clinical phenotype and causes of death for thirty-seven individuals with various genetic causes of CDG. About a third of this cohort were affected with PMM2-CDG. All of the patients presented with multisystem features with involvement of …


Pilot Screening For Prodromal Parkinson’S Disease In Post-9/11 Veterans With Probable Rapid Eye Movement Sleep Behavior Disorder, Melissa B Jones, Dakota Broadway, Taryn White, George R Jackson, Supriya Singh, Ruosha Li, Erik K St Louis, Laura E Marsh, Ricardo E Jorge Mar 2025

Pilot Screening For Prodromal Parkinson’S Disease In Post-9/11 Veterans With Probable Rapid Eye Movement Sleep Behavior Disorder, Melissa B Jones, Dakota Broadway, Taryn White, George R Jackson, Supriya Singh, Ruosha Li, Erik K St Louis, Laura E Marsh, Ricardo E Jorge

Faculty, Staff and Students Publications

This pilot examined prodromal markers in post-9/11 Veterans with TBI and probable REM sleep behavior disorder (N = 12). RBD was confirmed in 5 of 10 (50 %) participants with polysomnography. Veterans with subthreshold parkinsonism had lower olfactory scores. Future studies should quantify REM sleep without atonia and include broader markers.


Unveiling Vaginal Fibrosis: A Novel Murine Model Using Bleomycin And Epithelial Disruption, Jennifer M Mccracken, Gisele A Calderon, Felipe Rivas, Dorothea Erxleben, Taylor Moseley, Lishore A Kumar, Daniel E Kennedy, Swathi Balaji, Adam Hall, Julie C E Hakim Mar 2025

Unveiling Vaginal Fibrosis: A Novel Murine Model Using Bleomycin And Epithelial Disruption, Jennifer M Mccracken, Gisele A Calderon, Felipe Rivas, Dorothea Erxleben, Taylor Moseley, Lishore A Kumar, Daniel E Kennedy, Swathi Balaji, Adam Hall, Julie C E Hakim

Faculty, Staff and Students Publications

Vaginal fibrosis induced by cancer therapy continues to take a physical and psychoemotional burden. To advance the efforts to generate a reproducible and cost-effective animal model, we tested the effect of repeated bleomycin instillations with mucosal layer disruption on induction of vaginal fibrosis. Tissue samples collected at various time points were analyzed for fibrosis-related gene expression changes and collagen content. Low (1.5 U/kg) and high-dose (2.5 U/kg) bleomycin instillations alone did not induce fibrosis, but when high-dose bleomycin was combined with epithelial disruption, increased profibrotic gene expression and trichrome staining were observed. To evaluate spatial and temporal changes in the …


Discrete Placental Gene Expression Signatures Accompany Diabetic Disease Classifications During Pregnancy, Enrico R Barrozo, Diana A Racusin, Michael D Jochum, Brandon T Garcia, Melissa A Suter, Melanie Delbeccaro, Cynthia Shope, Kathleen Antony, Kjersti M Aagaard Mar 2025

Discrete Placental Gene Expression Signatures Accompany Diabetic Disease Classifications During Pregnancy, Enrico R Barrozo, Diana A Racusin, Michael D Jochum, Brandon T Garcia, Melissa A Suter, Melanie Delbeccaro, Cynthia Shope, Kathleen Antony, Kjersti M Aagaard

Faculty, Staff and Students Publications

Background: Gestational diabetes mellitus affects up to 10% of pregnancies and is classified into subtypes gestational diabetes subtype A1 (GDMA1) (managed by lifestyle modifications) and gestational diabetes subtype A2 (GDMA2) (requiring medication). However, whether these subtypes are distinct clinical entities or more reflective of an extended spectrum of normal pregnancy endocrine physiology remains unclear.

Objective: Integrated bulk RNA-sequencing (RNA-seq), single-cell RNA-sequencing (scRNA-seq), and spatial transcriptomics harbors the potential to reveal disease gene signatures in subsets of cells and tissue microenvironments. We aimed to combine these high-resolution technologies with rigorous classification of diabetes subtypes in pregnancy. We hypothesized that differences between …


Convergence On Camk4: A Key Modulator Of Autism-Associated Signaling Pathways In Neurons, Jacqueline Kaiser, Alana Risteska, Abbey G Muller, Haoxiong Sun, Bethany Lei, Kevin Nay, Anthony R Means, Margot A Cousin, David H Drewry, Jonathan S Oakhill, Bruce E Kemp, Anthony J Hannan, Michael Berk, Mark A Febbraio, Andrew L Gundlach, Elisa L Hill-Yardin, John W Scott Mar 2025

Convergence On Camk4: A Key Modulator Of Autism-Associated Signaling Pathways In Neurons, Jacqueline Kaiser, Alana Risteska, Abbey G Muller, Haoxiong Sun, Bethany Lei, Kevin Nay, Anthony R Means, Margot A Cousin, David H Drewry, Jonathan S Oakhill, Bruce E Kemp, Anthony J Hannan, Michael Berk, Mark A Febbraio, Andrew L Gundlach, Elisa L Hill-Yardin, John W Scott

Faculty, Staff and Students Publications

Although the precise underlying cause(s) of autism spectrum disorder remain unclear, more than 1000 rare genetic variations are associated with the condition. For many people living with profound autism, this genetic heterogeneity has impeded the identification of common biological targets for therapy development for core and comorbid traits that include significant impairments in social communication and repetitive and restricted behaviors. A substantial number of genes associated with autism encode proteins involved in signal transduction and synaptic transmission that are critical for brain development and function. CAMK4 is an emerging risk gene for autism spectrum disorder that encodes the CaMK4 (calcium/calmodulin-dependent …


Cerebrotendinous Xanthomatosis Occurs At High Frequency In Ashkenazi Jews, Jennifer Hanson, Penelope E Bonnen Mar 2025

Cerebrotendinous Xanthomatosis Occurs At High Frequency In Ashkenazi Jews, Jennifer Hanson, Penelope E Bonnen

Faculty, Staff and Students Publications

Cerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades. Clinical features include cerebellar dysfunction, pyramidal tract dysfunction, cognitive deficits and decline, peripheral neuropathy, chronic diarrhea, bilateral cataracts, and tendon xanthomas. Treatment is effective when started early, but diagnostic delays often result in individuals not being diagnosed until after the window of highest treatment efficacy. CTX is documented to occur in most global populations, however, no CTX-causing genetic variants have been reported in Ashkenazi Jews. We conducted a systematic review of every …


Genetically Engineered Brain Organoids Recapitulate Spatial And Developmental States Of Glioblastoma Progression, Matthew Ishahak, Rowland H Han, Devi Annamalai, Timothy Woodiwiss, Colin Mccornack, Ryan T Cleary, Patrick A Desouza, Xuan Qu, Sonika Dahiya, Albert H Kim, Jeffrey R Millman Mar 2025

Genetically Engineered Brain Organoids Recapitulate Spatial And Developmental States Of Glioblastoma Progression, Matthew Ishahak, Rowland H Han, Devi Annamalai, Timothy Woodiwiss, Colin Mccornack, Ryan T Cleary, Patrick A Desouza, Xuan Qu, Sonika Dahiya, Albert H Kim, Jeffrey R Millman

2020-Current year OA Pubs

Glioblastoma (GBM) is an aggressive form of brain cancer that is highly resistant to therapy due to significant intra-tumoral heterogeneity. The lack of robust in vitro models to study early tumor progression has hindered the development of effective therapies. Here, this study develops engineered GBM organoids (eGBOs) harboring GBM subtype-specific oncogenic mutations to investigate the underlying transcriptional regulation of tumor progression. Single-cell and spatial transcriptomic analyses revealed that these mutations disrupt normal neurodevelopment gene regulatory networks resulting in changes in cellular composition and spatial organization. Upon xenotransplantation into immunodeficient mice, eGBOs form tumors that recapitulate the transcriptional and spatial landscape …


Relationships Between Brain Glucose Metabolism Patterns And Impaired Glycemic Status: A Systematic Review Of Fdg-Pet Studies With A Focus On Alzheimer's Disease, Setareh Soltani, Mahsa Dolatshahi, Sara Soltani, Kian Khazaei, Maryam Rahmani, Cyrus A Raji Mar 2025

Relationships Between Brain Glucose Metabolism Patterns And Impaired Glycemic Status: A Systematic Review Of Fdg-Pet Studies With A Focus On Alzheimer's Disease, Setareh Soltani, Mahsa Dolatshahi, Sara Soltani, Kian Khazaei, Maryam Rahmani, Cyrus A Raji

2020-Current year OA Pubs

It is well-established that individuals with type 2 diabetes have an increased risk of developing cognitive impairment and Alzheimer's disease (AD). However, it is not fully determined how insulin resistance and type 2 diabetes are related to AD-related brain glucose metabolism abnormalities. For this aim, we performed a systematic review of the studies investigating the association between cerebral glucose metabolism and glycemic status, including diabetes, insulin resistance, or hyperglycemia. Medline, Embase, and Cochrane databases were searched (till February 2, 2025). All English full-text papers studying 18F-FDG-PET that investigated the association between cerebral FDG uptake or cerebral metabolism rate and glycemic …


Use Of Robust Norming To Create A Sensitive Cognitive Summary Score In De Novo Parkinson's Disease: An Illustrative Example, Daniel Weintraub, Michael C Brumm, Ryan Kurth, Michele K York Mar 2025

Use Of Robust Norming To Create A Sensitive Cognitive Summary Score In De Novo Parkinson's Disease: An Illustrative Example, Daniel Weintraub, Michael C Brumm, Ryan Kurth, Michele K York

Faculty, Staff and Students Publications

Background: Cognitive impairment is common at all stages of Parkinson's disease (PD), but there is no consensus on which neuropsychological tests to use or how to interpret cognitive battery results. A cognitive summary score (CSS) combines the richness of a neuropsychological battery with the simplicity of a single score.

Objective: The objective of this study was to determine whether a CSS created using robust norming can detect early cognitive deficits in de novo, untreated PD.

Methods: Baseline cognitive data from PD participants and healthy control participants (HCs) in the Parkinson's Progression Markers Initiative were used to (1) create a robust …


Pregnancy In Women Receiving Maintenance Dialysis, Cristina Popa, Priyadarshini John, Prasoon Verma, Sehrish Ali, Silvi Shah Mar 2025

Pregnancy In Women Receiving Maintenance Dialysis, Cristina Popa, Priyadarshini John, Prasoon Verma, Sehrish Ali, Silvi Shah

Faculty, Staff and Students Publications

Women with kidney failure experience pathophysiological changes that frequently result in disruption of the hypothalamic-pituitary-ovarian axis. Because of these hormonal disturbances, women with kidney disease often experience oligomenorrhea, amenorrhea, sexual dysfunction, and infertility. Preconception counseling, partnered with the early identification and optimal management of risk factors, such as hypertension and discontinuation of teratogenic medications, should be pursued for females contemplating conception. Pregnancy in women receiving maintenance dialysis is associated with a high risk of adverse maternal and fetal outcomes and should be managed by a multidisciplinary team of providers. In this review article, we discuss pregnancy incidence, pregnancy outcomes, and …