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2024

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Articles 27001 - 27030 of 27137

Full-Text Articles in Medicine and Health Sciences

Neurocognitive Outcome In Children With Sickle Cell Disease After Myeloimmunoablative Conditioning And Haploidentical Hematopoietic Stem Cell Transplantation: A Non-Randomized Clinical Trial, Suzanne Braniecki, Shalini Shenoy, Robert C Mckinstry, Et Al. Jan 2024

Neurocognitive Outcome In Children With Sickle Cell Disease After Myeloimmunoablative Conditioning And Haploidentical Hematopoietic Stem Cell Transplantation: A Non-Randomized Clinical Trial, Suzanne Braniecki, Shalini Shenoy, Robert C Mckinstry, Et Al.

2020-Current year OA Pubs

BACKGROUND: Due to the risk of cerebral vascular injury, children and adolescents with high-risk sickle cell disease (SCD) experience neurocognitive decline over time. Haploidentical stem cell transplantation (HISCT) from human leukocyte antigen-matched sibling donors may slow or stop progression of neurocognitive changes.

OBJECTIVES: The study is to determine if HISCT can ameliorate SCD-associated neurocognitive changes and prevent neurocognitive progression, determine which specific areas of neurocognitive functioning are particularly vulnerable to SCD, and determine if there are age-related differences in neurocognitive functioning over time.

METHODS: We performed neurocognitive and neuroimaging in SCD recipients following HISCT. Children and adolescents with high-risk SCD …


Negligence In Biomedical Research: An Anti-Racist Approach For Substance Use Researchers, Jonathan Lehman, Danniella Balangoy, Angie P Mejia, Carlos Cardenas-Iniguez, Scott Marek, Anita C Randolph Jan 2024

Negligence In Biomedical Research: An Anti-Racist Approach For Substance Use Researchers, Jonathan Lehman, Danniella Balangoy, Angie P Mejia, Carlos Cardenas-Iniguez, Scott Marek, Anita C Randolph

2020-Current year OA Pubs

Racism is embedded in the fabric of society at structural, disciplinary, hegemonic, and interpersonal levels, working as a mechanism that drives health disparities. In particular, stigmatized views of substance use get entangled with racialization, serving as a tool to uphold oppressive systems. While national health institutions have made commitments to dismantle these systems in the United States, anti-racism has not been integrated into biomedical research practice. The ways in which substance use researchers use and interpret race data-without engaging in structural racism as a mechanism of health inequity-can only be described as inadequate. Drawing upon concepts from the Public Health …


Traversing The Bench To Bedside Journey For Inkt Cell Therapies, Julie O'Neal, Melissa Mavers, Reyka G Jayasinghe, John F Dipersio Jan 2024

Traversing The Bench To Bedside Journey For Inkt Cell Therapies, Julie O'Neal, Melissa Mavers, Reyka G Jayasinghe, John F Dipersio

2020-Current year OA Pubs

Invariant natural killer T (iNKT) cells are immune cells that harness properties of both the innate and adaptive immune system and exert multiple functions critical for the control of various diseases. Prevention of graft-versus-host disease (GVHD) by iNKT cells has been demonstrated in mouse models and in correlative human studies in which high iNKT cell content in the donor graft is associated with reduced GVHD in the setting of allogeneic hematopoietic stem cell transplants. This suggests that approaches to increase the number of iNKT cells in the setting of an allogeneic transplant may reduce GVHD. iNKT cells can also induce …


The Response Of Dual-Leucine Zipper Kinase (Dlk) To Nocodazole: Evidence For A Homeostatic Cytoskeletal Repair Mechanism, Laura Devault, Chase Mateusiak, John Palucki, Michael Brent, Jeffrey Milbrandt, Aaron Diantonio Jan 2024

The Response Of Dual-Leucine Zipper Kinase (Dlk) To Nocodazole: Evidence For A Homeostatic Cytoskeletal Repair Mechanism, Laura Devault, Chase Mateusiak, John Palucki, Michael Brent, Jeffrey Milbrandt, Aaron Diantonio

2020-Current year OA Pubs

Genetic and pharmacological perturbation of the cytoskeleton enhances the regenerative potential of neurons. This response requires Dual-leucine Zipper Kinase (DLK), a neuronal stress sensor that is a central regulator of axon regeneration and degeneration. The damage and repair aspects of this response are reminiscent of other cellular homeostatic systems, suggesting that a cytoskeletal homeostatic response exists. In this study, we propose a framework for understanding DLK mediated neuronal cytoskeletal homeostasis. We demonstrate that low dose nocodazole treatment activates DLK signaling. Activation of DLK signaling results in a DLK-dependent transcriptional signature, which we identify through RNA-seq. This signature includes genes likely …


Shared Decision-Making During Virtual Care Regarding Rheumatologic And Chronic Conditions: Qualitative Study Of Benefits, Pitfalls, And Optimization, Lisa Zickuhr, Catherine Mccarthy, Emma Nolan-Thomas, Tiffany Westrich-Robertson, Elizabeth A Baker, Janice L Hanson Jan 2024

Shared Decision-Making During Virtual Care Regarding Rheumatologic And Chronic Conditions: Qualitative Study Of Benefits, Pitfalls, And Optimization, Lisa Zickuhr, Catherine Mccarthy, Emma Nolan-Thomas, Tiffany Westrich-Robertson, Elizabeth A Baker, Janice L Hanson

2020-Current year OA Pubs

OBJECTIVE: Virtual care (VC) is an accepted modality of care delivery, and shared decision-making (SDM) benefits patients with rheumatologic and chronic conditions (RCCs). Unfortunately, research suggests reduced quality of SDM during VC. This study explores the benefits and shortcomings of SDM regarding RCCs during VC with suggestions for optimally using VC during SDM.

METHODS: Following Stiggelbout's framework for SDM, we conducted focus groups of patients with RCCs and providers to understand their experiences with SDM during VC, probing for facilitating and challenging factors. We conducted content analysis of the transcripts, defining themes, and inductively reasoned to identify relationships among themes. …


Arid1a Loss Is Associated With Increased Nrf2 Signaling In Human Head And Neck Squamous Cell Carcinomas, Vinh Nguyen, Travis P. Schrank, Michael B. Major, Bernard E. Weissman Jan 2024

Arid1a Loss Is Associated With Increased Nrf2 Signaling In Human Head And Neck Squamous Cell Carcinomas, Vinh Nguyen, Travis P. Schrank, Michael B. Major, Bernard E. Weissman

2020-Current year OA Pubs

Prior to the next generation sequencing and characterization of the tumor genome landscape, mutations in the SWI/SNF chromatin remodeling complex and the KEAP1-NRF2 signaling pathway were underappreciated. While these two classes of mutations appeared to independently contribute to tumor development, recent reports have demonstrated a mechanistic link between these two regulatory mechanisms in specific cancer types and cell models. In this work, we expand upon these data by exploring the relationship between mutations in BAF and PBAF subunits of the SWI/SNF complex and activation of NRF2 signal transduction across many cancer types. ARID1A/B mutations were strongly associated with NRF2 transcriptional …


Reference Ranges For Left Modified Myocardial Performance Index: Systematic Review And Meta-Analysis, Katherine H Bligard, Michelle Doering, Shay Porat, Joshua I Rosenbloom Jan 2024

Reference Ranges For Left Modified Myocardial Performance Index: Systematic Review And Meta-Analysis, Katherine H Bligard, Michelle Doering, Shay Porat, Joshua I Rosenbloom

2020-Current year OA Pubs

INTRODUCTION: The modified myocardial performance index (mod-MPI) is a noninvasive Doppler-derived metric used to evaluate fetal cardiac function. However, the reference ranges for mod-MPI in normal fetuses are not clearly defined, which limits the use of this technology in fetuses with potential cardiac compromise. Thus, we aimed to perform a systematic review and meta-analysis of published mod-MPI reference ranges across gestation.

METHODS: The published literature was systematically searched, and all published articles in any language that provided values for the left ventricular mod-MPI obtained in low-risk, singleton fetuses were considered eligible for further review. All retrieved titles and abstracts were …


Biopsychosocial Factors Associated With Pain And Pain-Related Outcomes In Adults And Children With Sickle Cell Disease: A Multivariable Analysis Of The Grndad Multicenter Registry, Martha O Kenney, Sana Saif Ur Rehman, Et Al. Jan 2024

Biopsychosocial Factors Associated With Pain And Pain-Related Outcomes In Adults And Children With Sickle Cell Disease: A Multivariable Analysis Of The Grndad Multicenter Registry, Martha O Kenney, Sana Saif Ur Rehman, Et Al.

2020-Current year OA Pubs

Pain is the primary symptomatic manifestation of sickle cell disease (SCD), an inherited hemoglobinopathy. The characteristics that influence pain experiences and outcomes in SCD are not fully understood. The primary objective of this study was to use multivariable modeling to examine associations of biopsychosocial variables with a disease-specific measure of pain interference known as pain impact. We conducted a secondary analysis of data from the Global Research Network for Data and Discovery national SCD registry. A total of 657 children and adults with SCD were included in the analysis. This sample was 60% female with a median age of 34 …


Harmonization Of Csf And Imaging Biomarkers In Alzheimer's Disease: Need And Practical Applications For Genetics Studies And Preclinical Classification, Jigyasha Timsina, Muhammad Ali, Anh Do, Lihua Wang, Daniel Western, Yun Ju Sung, Carlos Cruchaga Jan 2024

Harmonization Of Csf And Imaging Biomarkers In Alzheimer's Disease: Need And Practical Applications For Genetics Studies And Preclinical Classification, Jigyasha Timsina, Muhammad Ali, Anh Do, Lihua Wang, Daniel Western, Yun Ju Sung, Carlos Cruchaga

2020-Current year OA Pubs

In Alzheimer's disease (AD) research, cerebrospinal fluid (CSF) Amyloid beta (Aβ), Tau and pTau are the most accepted and well validated biomarkers. Several methods and platforms exist to measure those biomarkers, leading to challenges in combining data across studies. Thus, there is a need to identify methods that harmonize and standardize these values. We used a Z-score based approach to harmonize CSF and amyloid imaging data from multiple cohorts and compared GWAS results using this approach with currently accepted methods. We also used a generalized mixture model to calculate the threshold for biomarker-positivity. Based on our findings, our normalization approach …


Accuracy Of True-Net In Comparison To Established White Matter Hyperintensity Segmentation Methods: An Independent Validation Study, Jeremy F Strain, Maryam Rahmani, Donna Dierker, Christopher Owen, Hussain Jafri, Andrei G Vlassenko, Kyle Womack, Jurgen Fripp, Duygu Tosun, Tammie L S Benzinger, Michael Weiner, Colin Masters, Jin-Moo Lee, John C Morris, Manu S Goyal, Adopic And Adni Investigators Jan 2024

Accuracy Of True-Net In Comparison To Established White Matter Hyperintensity Segmentation Methods: An Independent Validation Study, Jeremy F Strain, Maryam Rahmani, Donna Dierker, Christopher Owen, Hussain Jafri, Andrei G Vlassenko, Kyle Womack, Jurgen Fripp, Duygu Tosun, Tammie L S Benzinger, Michael Weiner, Colin Masters, Jin-Moo Lee, John C Morris, Manu S Goyal, Adopic And Adni Investigators

2020-Current year OA Pubs

White matter hyperintensities (WMH) are nearly ubiquitous in the aging brain, and their topography and overall burden are associated with cognitive decline. Given their numerosity, accurate methods to automatically segment WMH are needed. Recent developments, including the availability of challenge data sets and improved deep learning algorithms, have led to a new promising deep-learning based automated segmentation model called TrUE-Net, which has yet to undergo rigorous independent validation. Here, we compare TrUE-Net to six established automated WMH segmentation tools, including a semi-manual method. We evaluated the techniques at both global and regional level to compare their ability to detect the …


Trans-Ancestry Epigenome-Wide Association Meta-Analysis Of Dna Methylation With Lifetime Cannabis Use, Fang Fang, Laura J Bierut, Et Al. Jan 2024

Trans-Ancestry Epigenome-Wide Association Meta-Analysis Of Dna Methylation With Lifetime Cannabis Use, Fang Fang, Laura J Bierut, Et Al.

2020-Current year OA Pubs

Cannabis is widely used worldwide, yet its links to health outcomes are not fully understood. DNA methylation can serve as a mediator to link environmental exposures to health outcomes. We conducted an epigenome-wide association study (EWAS) of peripheral blood-based DNA methylation and lifetime cannabis use (ever vs. never) in a meta-analysis including 9436 participants (7795 European and 1641 African ancestry) from seven cohorts. Accounting for effects of cigarette smoking, our trans-ancestry EWAS meta-analysis revealed four CpG sites significantly associated with lifetime cannabis use at a false discovery rate of 0.05


Targeting Of Oncogenic Aaa-Atpase Trip13 Reduces Progression Of Pancreatic Ductal Adenocarcinoma, Farrukh Afaq, Sumit Agarwal, Prachi Bajpai, Sameer Al Diffalha, Hyung-Gyoon Kim, Shajan Peter, Moh'd Khushman, Subhash C Chauhan, Priyabrata Mukherjee, Sooryanarayana Varambally, Upender Manne Jan 2024

Targeting Of Oncogenic Aaa-Atpase Trip13 Reduces Progression Of Pancreatic Ductal Adenocarcinoma, Farrukh Afaq, Sumit Agarwal, Prachi Bajpai, Sameer Al Diffalha, Hyung-Gyoon Kim, Shajan Peter, Moh'd Khushman, Subhash C Chauhan, Priyabrata Mukherjee, Sooryanarayana Varambally, Upender Manne

2020-Current year OA Pubs

Thyroid hormone receptor-interacting protein 13 (TRIP13) is involved in cancer progression, but its role in pancreatic ductal adenocarcinoma (PDAC) is unknown. Thus, we assessed the expression, functional role, and mechanism of action of TRIP13 in PDAC. We further examined the efficacy of TRIP13 inhibitor, DCZ0415, alone or in combination with gemcitabine on malignant phenotypes, tumor progression, and immune response. We found that TRIP13 was overexpressed in human PDACs relative to corresponding normal pancreatic tissues. TRIP13 knockdown or treatment of PDAC cells with DCZ0415 reduced proliferation and colony formation, and induced G2/M cell cycle arrest and apoptosis. Additionally, TRIP13 knockdown or …


Control Of Acute Myeloid Leukemia And Generation Of Immune Memory In Vivo Using Amv564, A Bivalent Bispecific Cd33 X Cd3 T Cell Engager, Linda G. Eissenberg, Julie K. Ritchey, Michael P. Rettig, Dilan A. Patel, Kiran Vij, Feng Gao, Victoria Smith, Tae H Han, John F. Dipersio Jan 2024

Control Of Acute Myeloid Leukemia And Generation Of Immune Memory In Vivo Using Amv564, A Bivalent Bispecific Cd33 X Cd3 T Cell Engager, Linda G. Eissenberg, Julie K. Ritchey, Michael P. Rettig, Dilan A. Patel, Kiran Vij, Feng Gao, Victoria Smith, Tae H Han, John F. Dipersio

2020-Current year OA Pubs

Off-the-shelf immunotherapeutics that suppress tumor growth and provide durable protection against relapse could enhance cancer treatment. We report preclinical studies on a CD33 x CD3 bivalent bispecific diabody, AMV564, that not only suppresses tumor growth, but also facilitates memory responses in a mouse model of acute myelogenous leukemia (AML). Mechanistically, a single 5-day treatment with AMV564 seems to reduce tumor burden by redirection of T cells, providing a time window for allogeneic or other T cells that innately recognize tumor antigens to become activated and proliferate. When the concentration of bispecific becomes negligible, the effector: target ratio has also shifted, …


Intermuscular Coherence As An Early Biomarker For Amyotrophic Lateral Sclerosis: The Protocol For A Prospective, Multicenter Study, Naoum P Issa, Serdar Aydin, Eric Polley, Nathan Carberry, Mark A. Garret, Sean Smith, Ali A. Habib, Nicholas W. Baumgartner, Betty Soliven, Kourosh Rezania Jan 2024

Intermuscular Coherence As An Early Biomarker For Amyotrophic Lateral Sclerosis: The Protocol For A Prospective, Multicenter Study, Naoum P Issa, Serdar Aydin, Eric Polley, Nathan Carberry, Mark A. Garret, Sean Smith, Ali A. Habib, Nicholas W. Baumgartner, Betty Soliven, Kourosh Rezania

2020-Current year OA Pubs

OBJECTIVE: To describe the protocol of a prospective study to test the validity of intermuscular coherence (IMC) as a diagnostic tool and biomarker of upper motor neuron degeneration in amyotrophic lateral sclerosis (ALS).

METHODS: This is a multicenter, prospective study. IMC of muscle pairs in the upper and lower limbs is gathered in ∼650 subjects across three groups using surface electrodes and conventional electromyography (EMG) machines. The following subjects will be tested: 1) neurotypical controls; 2) patients with symptomatology suggestive for early ALS but not meeting probable or definite ALS by Awaji Criteria; 3) patients with a known ALS mimic. …


Buffered Lugol's Iodine Preserves Dna Fragment Lengths, P M Gignac, D Valdez, A C Morhardt, L M Lynch Jan 2024

Buffered Lugol's Iodine Preserves Dna Fragment Lengths, P M Gignac, D Valdez, A C Morhardt, L M Lynch

2020-Current year OA Pubs

Museum collections play a pivotal role in the advancement of biological science by preserving phenotypic and genotypic history and variation. Recently, contrast-enhanced X-ray computed tomography (CT) has aided these advances by allowing improved visualization of internal soft tissues. However, vouchered specimens could be at risk if staining techniques are destructive. For instance, the pH of unbuffered Lugol's iodine (I


Thirty-Day Hospital Readmission In Females With Acute Heart Failure And Breast Cancer: A Retrospective Cohort Study From National Readmission Database, Soumya Kambalapalli, Nischit Baral, Timir K. Paul, Prakash Upreti, Fahimeh Talaei, Sarah Ayad, Mahmoud Ibrahim, Vikas Aggarwal, Gautam Kumar, Chadi Alraies, Joshua Mitchell Jan 2024

Thirty-Day Hospital Readmission In Females With Acute Heart Failure And Breast Cancer: A Retrospective Cohort Study From National Readmission Database, Soumya Kambalapalli, Nischit Baral, Timir K. Paul, Prakash Upreti, Fahimeh Talaei, Sarah Ayad, Mahmoud Ibrahim, Vikas Aggarwal, Gautam Kumar, Chadi Alraies, Joshua Mitchell

2020-Current year OA Pubs

BACKGROUND: Breast Cancer and cardiovascular diseases are amongst the two leading causes of mortality in the United States, and the two conditions are connected in part because of recognized cardiotoxicity of cancer treatments. The aim of this study is to investigate the predictors risk factors for thirty-day readmission in female breast cancer survivors presenting with acute heart failure.

METHODS: This is a retrospective cohort study of acute heart failure (AHF) hospitalization in female patients with breast cancer in 2019 using the National Readmission Database (NRD), which is the largest publicly available all-payer inpatient readmission database in the United States. Our …


Characterization And Z-Score Calculation Of Cardiovascular Magnetic Resonance Imaging Parameters In Patients After The Fontan Operation: A Fontan Outcome Registry Using Cardiovascular Magnetic Resonance Examinations Study, Tarek Alsaied, Manish Aggarwal, Et Al. Jan 2024

Characterization And Z-Score Calculation Of Cardiovascular Magnetic Resonance Imaging Parameters In Patients After The Fontan Operation: A Fontan Outcome Registry Using Cardiovascular Magnetic Resonance Examinations Study, Tarek Alsaied, Manish Aggarwal, Et Al.

2020-Current year OA Pubs

BACKGROUND: Cardiac magnetic resonance (CMR) offers valuable hemodynamic insights post-Fontan, but is limited by the absence of normative single ventricle data. The Fontan Outcomes Registry using CMR Examinations (FORCE) is a large international Fontan-specific CMR registry. This study used FORCE registry data to evaluate expected CMR ventricular size/function and create Fontan-specific z-scores adjusting for ventricular morphology (VM) in healthier Fontan patients.

METHODS: "Healthier" Fontan patients were defined as patients free of adverse outcomes, who are New York Heart Association class I, have mild or less valve disease, and < 30% aortopulmonary collateral burden. General linear modeling was performed on 70% of the dataset to create z-scores for volumes and function. Models were tested using the remainder (30%) of the data. The z-scores were compared between children and adults. The z-scores were also compared between "healthier" Fontan and patients with adverse outcomes (death, listing for transplantation, or multiorgan disease).

RESULTS: The "healthier" Fontan population included 885 patients (15.0 ± 7.6 years) …


Classification Of Ipsc-Derived Cultures Using Convolutional Neural Networks To Identify Single Differentiated Neurons For Isolation Or Measurement, Purva Patel, Lina K. Mohammad Ali, Uma Kaushik, Malllory Wright, Kaylee Green, Jason E. Waligorski, Colin L. Kremitzki, Graham W. Bachman, Serena N. Elia, William J. Buchser Jan 2024

Classification Of Ipsc-Derived Cultures Using Convolutional Neural Networks To Identify Single Differentiated Neurons For Isolation Or Measurement, Purva Patel, Lina K. Mohammad Ali, Uma Kaushik, Malllory Wright, Kaylee Green, Jason E. Waligorski, Colin L. Kremitzki, Graham W. Bachman, Serena N. Elia, William J. Buchser

2020-Current year OA Pubs

No abstract provided.


Social Relationships, Amyloid Burden, And Dementia: The Aric-Pet Study, Renée C Groechel, Albert C Liu, Chelsea Liu, David S Knopman, Silvia Koton, Anna M Kucharska-Newton, Pamela L Lutsey, Thomas H Mosley, Priya Palta, A Richey Sharrett, Keenan A Walker, Dean F Wong, Rebecca F Gottesman Jan 2024

Social Relationships, Amyloid Burden, And Dementia: The Aric-Pet Study, Renée C Groechel, Albert C Liu, Chelsea Liu, David S Knopman, Silvia Koton, Anna M Kucharska-Newton, Pamela L Lutsey, Thomas H Mosley, Priya Palta, A Richey Sharrett, Keenan A Walker, Dean F Wong, Rebecca F Gottesman

2020-Current year OA Pubs

INTRODUCTION: This study aimed to assess whether social relationships in mid-life reduce the risk of dementia related to amyloid burden.

METHODS: Participants in the Atherosclerosis Risk in Communities (ARIC) study were assessed for social support and isolation (visit 2; 1990-1992). A composite measure, "social relationships," was generated. Brain amyloid was evaluated with florbetapir positron emission tomography (PET); (visit 5; 2012-2014). Incident dementia cases were identified following visit 5 through 2019 using ongoing surveillance. Relative contributions of mid-life social relationships and elevated brain amyloid to incident dementia were evaluated with Cox regression models.

RESULTS: Among 310 participants without dementia, strong mid-life …


Hippocampal Volumes In Uk Biobank Are Associated With Apoe Only In Older Adults, Ariya Chaloemtoem, Vera Thornton, Yoonhoo Chang, Andrey P Anokhin, Michaël E Belloy, Janine Bijsterbosch, Brian A Gordon, Sarah M Hartz, Laura J Bierut Jan 2024

Hippocampal Volumes In Uk Biobank Are Associated With Apoe Only In Older Adults, Ariya Chaloemtoem, Vera Thornton, Yoonhoo Chang, Andrey P Anokhin, Michaël E Belloy, Janine Bijsterbosch, Brian A Gordon, Sarah M Hartz, Laura J Bierut

2020-Current year OA Pubs

INTRODUCTION: The hippocampus atrophies with age and is implicated in neurodegenerative disorders including Alzheimer's disease (AD). We examined the interplay between age and apolipoprotein E (

METHODS: Using neuroimaging data from 37,463 UK Biobank participants, we applied linear regression to quantify the association of age and

RESULTS: Total hippocampal volume declined with age, with significant differences by

DISCUSSION: The association of

HIGHLIGHTS: Apolipoprotein E (


The Association Of Dementia Risk Symptoms And Functional Activity In Adults With Down Syndrome, Selena E Washington, Amy E Bodde, Brian C Helsel, Rebecca M Bollinger, Nora Smith, Lauren T Ptomey, Beau Ances, Susan L Stark Jan 2024

The Association Of Dementia Risk Symptoms And Functional Activity In Adults With Down Syndrome, Selena E Washington, Amy E Bodde, Brian C Helsel, Rebecca M Bollinger, Nora Smith, Lauren T Ptomey, Beau Ances, Susan L Stark

2020-Current year OA Pubs

INTRODUCTION: Adults with Down syndrome (DS) have an increased risk of Alzheimer's disease (AD) dementia, often showing neuropathological indicators by age 40. Physical function and activities of daily living (ADLs) are understudied areas of function that may inform dementia risk. We investigated associations among age, physical function (gait/balance, grip strength, and lower extremity strength), ADLs, and dementia risk symptoms in adults with DS. We hypothesized that compromised physical function and lower independence with ADLs would be associated with an informant/caregiver-reported measure of dementia risk symptoms.

METHODS: A secondary analysis for this cross-sectional study was completed using data from two academic …


Systematic Computer-Aided Disulfide Design As A General Strategy To Stabilize Prefusion Class I Fusion Proteins, Karen J Gonzalez, Kevin C Yim, Jorge C G Blanco, Marina S Boukhvalova, Eva-Maria Strauch Jan 2024

Systematic Computer-Aided Disulfide Design As A General Strategy To Stabilize Prefusion Class I Fusion Proteins, Karen J Gonzalez, Kevin C Yim, Jorge C G Blanco, Marina S Boukhvalova, Eva-Maria Strauch

2020-Current year OA Pubs

Numerous enveloped viruses, such as coronaviruses, influenza, and respiratory syncytial virus (RSV), utilize class I fusion proteins for cell entry. During this process, the proteins transition from a prefusion to a postfusion state, undergoing substantial and irreversible conformational changes. The prefusion conformation has repeatedly shown significant potential in vaccine development. However, the instability of this state poses challenges for its practical application in vaccines. While non-native disulfides have been effective in maintaining the prefusion structure, identifying stabilizing disulfide bonds remains an intricate task. Here, we present a general computational approach to systematically identify prefusion-stabilizing disulfides. Our method assesses the geometric …


Unmet Patient Needs In Monocarboxylate Transporter 8 (Mct8) Deficiency: A Review, Andrew J Bauer, Bethany Auble, Amy L Clark, Tina Y Hu, Amber Isaza, Kyle P Mcnerney, Daniel L Metzger, Lindsey Nicol, Samuel R Pierce, Richard Sidlow Jan 2024

Unmet Patient Needs In Monocarboxylate Transporter 8 (Mct8) Deficiency: A Review, Andrew J Bauer, Bethany Auble, Amy L Clark, Tina Y Hu, Amber Isaza, Kyle P Mcnerney, Daniel L Metzger, Lindsey Nicol, Samuel R Pierce, Richard Sidlow

2020-Current year OA Pubs

Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the


Isoflurane Conditioning Improves Functional Outcomes After Peripheral Nerve Injury In A Sciatic Cut Repair Murine Model, Yameng Xu, Ying Yan, Gregory J Zipfel, Matthew Macewan, Wilson Z Ray, Umeshkumar Athiraman Jan 2024

Isoflurane Conditioning Improves Functional Outcomes After Peripheral Nerve Injury In A Sciatic Cut Repair Murine Model, Yameng Xu, Ying Yan, Gregory J Zipfel, Matthew Macewan, Wilson Z Ray, Umeshkumar Athiraman

2020-Current year OA Pubs

INTRODUCTION: Anesthetic conditioning has been shown to provide neuroprotection in several neurological disorders. Whether anesthetic conditioning provides protection against peripheral nerve injuries remains unknown. The aim of our current study is to investigate the impact of isoflurane conditioning on the functional outcomes after peripheral nerve injury (PNI) in a rodent sciatic nerve injury model.

METHODS: Adult male Lewis rats underwent sciatic nerve cut and repair and exposed to none (Group 1, sham), single isoflurane exposure (Group 2), three-time isoflurane exposure (Group 3), and six-time isoflurane exposure (Group 4). Isoflurane conditioning was established by administration of 2% isoflurane for 1 hour, …


Co-Occurring Autism, Adhd, And Gender Dysphoria In Children, Adolescents, And Young Adults With Eating Disorders: An Examination Of Pre- Vs. Post-Covid Pandemic Outbreak Trends With Real-Time Electronic Health Record Data, Tashalee R Brown, Madeline O Jansen, A Ning Zhou, Dominic Moog, Hui Xie, Katherine V Liebesny, Kevin Y Xu, Binx Y Lin, Wisteria Y Deng Jan 2024

Co-Occurring Autism, Adhd, And Gender Dysphoria In Children, Adolescents, And Young Adults With Eating Disorders: An Examination Of Pre- Vs. Post-Covid Pandemic Outbreak Trends With Real-Time Electronic Health Record Data, Tashalee R Brown, Madeline O Jansen, A Ning Zhou, Dominic Moog, Hui Xie, Katherine V Liebesny, Kevin Y Xu, Binx Y Lin, Wisteria Y Deng

2020-Current year OA Pubs

BACKGROUND: Incidence rates of autism, attention-deficit/hyperactivity disorder (ADHD), and gender dysphoria (GD) are rising not only in the general population, but particularly among children, adolescents, and young adults with eating disorders (EDs). While ED rates have risen during the COVID pandemic, trends in co-occurring autism, ADHD, and GD have yet to be investigated in detail or at scale by way of large electronic medical record data.

OBJECTIVES: To investigate trends in rates of co-occurring autism, ADHD, and GD among children, adolescents, and young adults with EDs in years prior to and during the COVID-19 pandemic.

METHODS: We utilized a de-identified …


Case Report: Deep Sequencing And Long-Read Genome Sequencing Refine Prior Genetic Analyses In Families With Apparent Gonadal Mosaicism In Pik3cd-Related Activated Pi3k Delta Syndrome, Halyn Orellana, Alex Paul, Nermina Saucier, Megan Cooper, Et Al. Jan 2024

Case Report: Deep Sequencing And Long-Read Genome Sequencing Refine Prior Genetic Analyses In Families With Apparent Gonadal Mosaicism In Pik3cd-Related Activated Pi3k Delta Syndrome, Halyn Orellana, Alex Paul, Nermina Saucier, Megan Cooper, Et Al.

2020-Current year OA Pubs

Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their offspring. In families with one or more affected offspring, occurrence of the same apparently


Assessment Of Sociodemographic And Psychiatric Characteristics Of Transgender Adults Seen At A Midwest Tertiary Medical Center, Samuel Cortez, Dominic Moog, Elizabeth Baranski, Kelley Williams, Jinli Wang, Ginger Nicol, Thomas Baranski, Cynthia J Herrick Jan 2024

Assessment Of Sociodemographic And Psychiatric Characteristics Of Transgender Adults Seen At A Midwest Tertiary Medical Center, Samuel Cortez, Dominic Moog, Elizabeth Baranski, Kelley Williams, Jinli Wang, Ginger Nicol, Thomas Baranski, Cynthia J Herrick

2020-Current year OA Pubs

BACKGROUND: The National Academy of Medicine has formally identified transgender adults as an understudied population in critical need of health research. While national surveys, like the US Transgender survey, have characterized higher rates of depression, anxiety, suicidality and socioeconomic need in the transgender community, studies have not examined the impact of sociodemographic and clinical characteristics on mental health related outcomes.

OBJECTIVE: To describe the sociodemographic and mental health characteristics of transgender adults seen at a large Midwest transgender clinic and to determine factors associated with self-reported mental health conditions.

METHODS: Descriptive, retrospective, cross-sectional study of new transgender patients 18 years …


Recarving The Future: Bridging Car T-Cell Therapy Gaps With Synthetic Biology, Engineering, And Economic Insights, Alaa Ali, John F Dipersio Jan 2024

Recarving The Future: Bridging Car T-Cell Therapy Gaps With Synthetic Biology, Engineering, And Economic Insights, Alaa Ali, John F Dipersio

2020-Current year OA Pubs

Chimeric antigen receptor (CAR) T-cell therapy has revolutionized the treatment of hematologic malignancies, offering remarkable remission rates in otherwise refractory conditions. However, its expansion into broader oncological applications faces significant hurdles, including limited efficacy in solid tumors, safety concerns related to toxicity, and logistical challenges in manufacturing and scalability. This review critically examines the latest advancements aimed at overcoming these obstacles, highlighting innovations in CAR T-cell engineering, novel antigen targeting strategies, and improvements in delivery and persistence within the tumor microenvironment. We also discuss the development of allogeneic CAR T cells as off-the-shelf therapies, strategies to mitigate adverse effects, and …


Molecular Characterization Of Gliomas And Glioneuronal Tumors Amid Noonan Syndrome: Cancer Predisposition Examined, Margaret Shatara, Mohamed S Abdelbaki, Et Al Jan 2024

Molecular Characterization Of Gliomas And Glioneuronal Tumors Amid Noonan Syndrome: Cancer Predisposition Examined, Margaret Shatara, Mohamed S Abdelbaki, Et Al

2020-Current year OA Pubs

INTRODUCTION: In the setting of pediatric and adolescent young adult cancer, increased access to genomic profiling has enhanced the detection of genetic variation associated with cancer predisposition, including germline syndromic conditions. Noonan syndrome (NS) is associated with the germline RAS pathway activating alterations and increased risk of cancer. Herein, we describe our comprehensive molecular profiling approach, the association of NS with glioma and glioneuronal tumors, and the clinical and histopathologic characteristics associated with the disease.

METHODS: Within an institutional pediatric cancer cohort (n = 314), molecular profiling comprised of paired somatic disease-germline comparator exome analysis, RNA sequencing, and tumor classification …


Changing Hearts And Minds: Theorizing How, When, And Under What Conditions Three Social Influence Implementation Strategies Work, Bryan J Weiner, Rosemary D Meza, Predrag Klasnja, Rebecca Lengnick-Hall, Gretchen J Buchanan, Aaron R Lyon, Kayne D Mettert, Marcella H Boynton, Byron J Powell, Cara C Lewis Jan 2024

Changing Hearts And Minds: Theorizing How, When, And Under What Conditions Three Social Influence Implementation Strategies Work, Bryan J Weiner, Rosemary D Meza, Predrag Klasnja, Rebecca Lengnick-Hall, Gretchen J Buchanan, Aaron R Lyon, Kayne D Mettert, Marcella H Boynton, Byron J Powell, Cara C Lewis

2020-Current year OA Pubs

BACKGROUND: Opinion leadership, educational outreach visiting, and innovation championing are commonly used strategies to address barriers to implementing innovations and evidence-based practices in healthcare settings. Despite voluminous research, ambiguities persist in how these strategies work and under what conditions they work well, work poorly, or work at all. The current paper develops middle-range theories to address this gap.

METHODS: Conceptual articles, systematic reviews, and empirical studies informed the development of causal pathway diagrams (CPDs). CPDs are visualization tools for depicting and theorizing about the causal process through which strategies operate, including the mechanisms they activate, the barriers they address, and …