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Articles 2581 - 2610 of 13601
Full-Text Articles in Entire DC Network
Maternal Loss Of Mouse Nlrp2 Alters The Transcriptome And Dna Methylome In Gv Oocytes And Impairs Zygotic Genome Activation In Embryos, Zahra Anvar, Michael D Jochum, Imen Chakchouk, Momal Sharif, Hannah Demond, Alvin K To, Daniel C Kraushaar, Ying-Wooi Wan, Michael C Mari, Simon Andrews, Gavin Kelsey, Ignatia B Van Den Veyver
Maternal Loss Of Mouse Nlrp2 Alters The Transcriptome And Dna Methylome In Gv Oocytes And Impairs Zygotic Genome Activation In Embryos, Zahra Anvar, Michael D Jochum, Imen Chakchouk, Momal Sharif, Hannah Demond, Alvin K To, Daniel C Kraushaar, Ying-Wooi Wan, Michael C Mari, Simon Andrews, Gavin Kelsey, Ignatia B Van Den Veyver
Center for Medical Ethics and Health Policy Staff Publications
Background: NLRP2 is a subcortical maternal complex (SCMC) protein of mammalian oocytes and preimplantation embryos. SCMC proteins are encoded by maternal effect genes and play a pivotal role in the maternal-to-zygotic transition (MZT), early embryogenesis, and epigenetic (re)programming. Maternal inactivation of genes encoding SCMC proteins has been linked to infertility and subfertility in mice and humans, but the underlying molecular mechanisms for the diverse functions of SCMC proteins, and specifically the role of NLRP2, are incompletely understood.
Results: We profiled the DNA methylome of pre-ovulatory germinal-vesicle (GV) oocytes from Nlrp2-null, heterozygous (Het), and wild-type (WT) female mice and assessed the …
A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant, In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah Mclaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker
A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant, In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah Mclaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker
Center for Medical Ethics and Health Policy Staff Publications
Loss of function in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense variant analysis at potential phosphorylation sites, we identified T730 (T720 in mice) as a critical residue associated with pathogenesis. Using a CHD7 T730 missense variant (Chd7T720A) and a frameshift null allele (Chd7fs) in a mouse model, we found that Chd7fs/fs mice were non-viable, while Chd7fs/+ mice exhibited haploinsufficiency-related circling behavior. Notably, Chd7fs/T720A mice died before postnatal …
Correlations Within And Between Highly Multiplexed Proteomic Assays Of Human Plasma, Mary R Rooney, Jingsha Chen, Christie M Ballantyne, Ron C Hoogeveen, Eric Boerwinkle, Bing Yu, Keenan A Walker, Pascal Schlosser, Elizabeth Selvin, Nilanjan Chatterjee, David Couper, Morgan E Grams, Josef Coresh
Correlations Within And Between Highly Multiplexed Proteomic Assays Of Human Plasma, Mary R Rooney, Jingsha Chen, Christie M Ballantyne, Ron C Hoogeveen, Eric Boerwinkle, Bing Yu, Keenan A Walker, Pascal Schlosser, Elizabeth Selvin, Nilanjan Chatterjee, David Couper, Morgan E Grams, Josef Coresh
Faculty, Staff and Students Publications
Introduction: The number of assays on proteomic platforms has grown rapidly. The leading platforms, SomaScan and Olink, have strengths and limitations. Comparisons of precision on the latest platforms-SomaScan 11k and Olink Explore HT-have not yet been established.
Methods: Among 102 participants in the Atherosclerosis Risk in Communities Study (mean age 74 years, 53% women, 47% Black), we used split plasma samples to measure platform precision. CV and Spearman correlations were calculated for each assay. Cross-platform agreement was assessed for overlapping proteins.
Results: SomaScan 11k demonstrated a median correlation of 0.85 for the 10 778 assays and a median CV of …
An Antibody Biomarker Associated With Onchocerca Volvulus Microfilariae Identified By Proteomic Analysis Of Parasite Tissues Isolated From Paraffin Embedded O. Volvulus Nodules By Laser Capture Microdissection, Sarah E Greene, Kerstin Fischer, Lucia S Di Maggio, Bruce A Rosa, Yuefang Huang, Irina Diekmann, Byoung-Kyu Cho, Jessica Lukowski, Young A Goo, Makedonka Mitreva, Nicholas Opoku, Gary J Weil, Peter U Fischer
An Antibody Biomarker Associated With Onchocerca Volvulus Microfilariae Identified By Proteomic Analysis Of Parasite Tissues Isolated From Paraffin Embedded O. Volvulus Nodules By Laser Capture Microdissection, Sarah E Greene, Kerstin Fischer, Lucia S Di Maggio, Bruce A Rosa, Yuefang Huang, Irina Diekmann, Byoung-Kyu Cho, Jessica Lukowski, Young A Goo, Makedonka Mitreva, Nicholas Opoku, Gary J Weil, Peter U Fischer
2020-Current year OA Pubs
Onchocerciasis (river blindness), a neglected tropical disease caused by the filarial nematode Onchocerca volvulus, impacts millions of people in sub-Saharan Africa. The WHO coordinates global efforts to eliminate onchocerciasis and has prioritized development of improved diagnostic tests to aid these efforts. To find new microfilarial-associated diagnostic targets to help identify active infections, we used laser capture microdissection to isolate embryonic stages from histologic sections of O. volvulus worms in subcutaneous nodules excised from onchocerciasis patients. Proteomic analysis identified 2,512 O. volvulus proteins in those tissues, including 264 found only in the microfilariae (Mf). From this pool of diagnostic candidates, we …
Three Dimensional Multiscalar Neurovascular Nephron Connectivity Map Of The Human Kidney Across The Lifespan, Liam Mclaughlin, Bo Zhang, Siddharth Sharma, Amanda L Knoten, Madhurima Kaushal, Jeffrey M Purkerson, Heidie L Huyck, Gloria S Pryhuber, Joseph P Gaut, Sanjay Jain
Three Dimensional Multiscalar Neurovascular Nephron Connectivity Map Of The Human Kidney Across The Lifespan, Liam Mclaughlin, Bo Zhang, Siddharth Sharma, Amanda L Knoten, Madhurima Kaushal, Jeffrey M Purkerson, Heidie L Huyck, Gloria S Pryhuber, Joseph P Gaut, Sanjay Jain
2020-Current year OA Pubs
The human kidney maintains homeostasis through a complex network of up to a million nephrons, its fundamental tissue units. Using innovative tissue processing and light sheet fluorescence microscopy, we mapped the 3D neurovascular connectivity of nephrons to understand how their structural organization enables coordinated functions like filtration, absorption, and blood pressure regulation. Our analysis revealed developmental changes in glomerular orientation, density, volume, and innervation from birth through aging. We discovered an extensive nerve network connecting different nephron segments and organizing glomeruli into distinct communities. These communities are linked through "mother glomeruli" that serve as control centers, creating a repeating pattern …
Impact Of An Adapted Diabetes Prevention Program In A Spanish Primary Care Setting: Protocol For A Type Ii Hybrid Effectiveness-Implementation Cluster-Randomized Trial (Aladim), Miquel Bennasar-Veny, Manuela Abbate, Miquel Colom-Rosselló, Laura Capitán-Moyano, Ivonne C Hernández-Bermúdez, Ignacio Ricci-Cabello, Aina M Yañez, Maria E Fernandez
Impact Of An Adapted Diabetes Prevention Program In A Spanish Primary Care Setting: Protocol For A Type Ii Hybrid Effectiveness-Implementation Cluster-Randomized Trial (Aladim), Miquel Bennasar-Veny, Manuela Abbate, Miquel Colom-Rosselló, Laura Capitán-Moyano, Ivonne C Hernández-Bermúdez, Ignacio Ricci-Cabello, Aina M Yañez, Maria E Fernandez
Faculty, Staff and Student Publications
Background: Type 2 diabetes (T2D) is a global health concern affecting 10.5% of the adult population and is projected to rise significantly in the coming decades. Lifestyle modification programs, such as the Diabetes Prevention Program (DPP), can effectively reduce T2D risk among individuals with prediabetes. However, their implementation in real-world healthcare settings remains poor, particularly in Spain, where T2D prevalence is the highest in Europe. The ALADIM study aims to evaluate the effectiveness and implementation of an adapted DPP in Spanish Primary Care Centers (PCCs). The primary effectiveness outcome is weight, the co-primary implementation outcome is implementation fidelity. We will …
Longitudinal Outcomes Of The Covid-19 Pandemic On Youth Physical Fitness, Andjelka Pavlovic, David Leonard, Timothy J Walker, Derek W Craig, Jizyah Injil, Laura F Defina
Longitudinal Outcomes Of The Covid-19 Pandemic On Youth Physical Fitness, Andjelka Pavlovic, David Leonard, Timothy J Walker, Derek W Craig, Jizyah Injil, Laura F Defina
Faculty, Staff and Student Publications
Importance: The COVID-19 pandemic led to a decline in physical activity levels among youths, which could have a negative impact on their fitness.
Objective: To examine longitudinal changes in cardiorespiratory fitness (CRF) and musculoskeletal fitness (MSF) among students at schools participating in a school-based physical activity program during fall 2019 through spring 2023.
Design, setting, and participants: This longitudinal cohort study included US schools reporting CRF and MSF data at least once during the pandemic (fall 2020 to fall 2021) and at least 1 additional time before or after. In a subset of schools for which learning modality data was …
Cytarabine Pharmacogenomics And Outcomes Among Children And Young Adults With Acute Myeloid Leukemia., Richard J. Marrero, Vivek M. Shastri, Deedra Nicolet, Krzysztof Mrózek, Christopher J. Walker, William G. Blum, Bayard L. Powell, Jonathan E. Kolitz, Joseph O. Moore, Geoffrey L. Uy, Wendy Stock, Andrew J. Carroll, John C. Byrd, Richard Aplenc, Todd M. Cooper, Alan S. Gamis, Huiyun Wu, Stanley Pounds, Yi-Cheng Wang, Todd A. Alonzo, Soheil Meshinchi, Ann-Kathrin Eisfeld, Edward A. Kolb, Jatinder K. Lamba
Cytarabine Pharmacogenomics And Outcomes Among Children And Young Adults With Acute Myeloid Leukemia., Richard J. Marrero, Vivek M. Shastri, Deedra Nicolet, Krzysztof Mrózek, Christopher J. Walker, William G. Blum, Bayard L. Powell, Jonathan E. Kolitz, Joseph O. Moore, Geoffrey L. Uy, Wendy Stock, Andrew J. Carroll, John C. Byrd, Richard Aplenc, Todd M. Cooper, Alan S. Gamis, Huiyun Wu, Stanley Pounds, Yi-Cheng Wang, Todd A. Alonzo, Soheil Meshinchi, Ann-Kathrin Eisfeld, Edward A. Kolb, Jatinder K. Lamba
Manuscripts, Articles, Book Chapters and Other Papers
IMPORTANCE: Therapeutic responses in acute myeloid leukemia (AML) demonstrate considerable variability both across and within established risk stratifications and age groups. Moreover, significant racial disparities persist, with Black patients experiencing inferior survival outcomes compared with their White counterparts.
OBJECTIVE: To validate the association of the previously reported 10 single nucleotide variant (SNV)-based ara-C pharmacogenomics score (ACS10) with survival outcomes in a large cohort of pediatric AML patients; to evaluate whether ACS10 remains relevant in an adolescent and young adult (AYA) population of patients with AML treated with similar intensive induction chemotherapy protocols; and to assess the association of ACS10 with …
A Comprehensive, Multi-Center, Immunogenomic Analysis Of Melanoma Brain Metastases, Lucy Boyce Kennedy, Amanda E D Van Swearingen, Marissa R Lee, Layne W Rogers, Alexander B Sibley, Jeff Sheng, Dadong Zhang, Xiaodi Qin, Eric S Lipp, Swaminathan Kumar, Aron Joon, Pixu Shi, Michael A Davies, Kouros Owzar, Carey K Anders, April K S Salama
A Comprehensive, Multi-Center, Immunogenomic Analysis Of Melanoma Brain Metastases, Lucy Boyce Kennedy, Amanda E D Van Swearingen, Marissa R Lee, Layne W Rogers, Alexander B Sibley, Jeff Sheng, Dadong Zhang, Xiaodi Qin, Eric S Lipp, Swaminathan Kumar, Aron Joon, Pixu Shi, Michael A Davies, Kouros Owzar, Carey K Anders, April K S Salama
Faculty, Staff and Student Publications
Background: Melanoma brain metastases (MBM) have a unique molecular profile compared to extracranial metastases (ECM). Description of the biological features and clinical outcomes of MBM will facilitate the design of rational therapies.
Methods: We examined the mutational landscape and gene expression profiles of MBM (74 patients) and ECM (34 patients) in paired patient samples from a previously published dataset with whole-exome sequencing (WES) and RNA sequencing (RNAseq) data from MD Anderson Cancer Center (MDACC). We also present findings from MBM from a new cohort of 14 patients from Duke University to strengthen investigation of somatic mutations and gene expression profiles. …
Estimated Burden Of Coccidioidomycosis, Samantha L Williams, Andrej Spec, Et Al.
Estimated Burden Of Coccidioidomycosis, Samantha L Williams, Andrej Spec, Et Al.
2020-Current year OA Pubs
IMPORTANCE: Coccidioidomycosis is an underrecognized fungal infection that can cause serious illness and constitutes a considerable public health burden. The number of cases is likely substantially higher than the nationally reported total, as surveillance does not capture patients who do not seek medical care or who are undiagnosed or misdiagnosed. Coccidioidomycosis is not reportable in all states, and cases not reported to public health entities are likewise missed. A systematic estimate of coccidioidomycosis burden is needed to raise awareness and inform public health interventions and policy.
OBJECTIVE: To assess the annual burden of symptomatic coccidioidomycosis in the US.
DESIGN, SETTING, …
Deriving A Mammogram-Based Risk Score From Screening Digital Breast Tomosynthesis For 5-Year Breast Cancer Risk Prediction, Shu Jiang, Debbie L Bennett, Graham A Colditz
Deriving A Mammogram-Based Risk Score From Screening Digital Breast Tomosynthesis For 5-Year Breast Cancer Risk Prediction, Shu Jiang, Debbie L Bennett, Graham A Colditz
2020-Current year OA Pubs
Screening digital breast tomosynthesis (DBT) aims to identify breast cancer early when treatment is most effective, leading to reduced mortality. In addition to early detection, the information contained within DBT images may also inform subsequent risk stratification and guide risk-reducing management. Using transfer learning, we refined a model in the Joanne Knight Breast Health Cohort at Washington University, a cohort of 5,066 women with DBT screening (mean age, 54.6), among whom 105 were diagnosed with breast cancer (26 ductal carcinoma in situ). We applied the model to external data from the Emory Breast Imaging Dataset, a cohort of 7,017 women …
Validation Of A Dynamic Risk Prediction Model Incorporating Prior Mammograms In A Diverse Population, Shu Jiang, Debbie L Bennett, Graham A Colditz
Validation Of A Dynamic Risk Prediction Model Incorporating Prior Mammograms In A Diverse Population, Shu Jiang, Debbie L Bennett, Graham A Colditz
2020-Current year OA Pubs
IMPORTANCE: For breast cancer risk prediction to be clinically useful, it must be accurate and applicable to diverse groups of women across multiple settings.
OBJECTIVE: To examine whether a dynamic risk prediction model incorporating prior mammograms, previously validated in Black and White women, could predict future risk of breast cancer across a racially and ethnically diverse population in a population-based screening program.
DESIGN, SETTING, AND PARTICIPANTS: This prognostic study included women aged 40 to 74 years with 1 or more screening mammograms drawn from the British Columbia Breast Screening Program from January 1, 2013, to December 31, 2019, with follow-up …
Phenotypes Of Atopic Dermatitis And Development Of Allergic Diseases, Alexandra R Sitarik, Katherine Rivera-Spoljaric, Et Al.
Phenotypes Of Atopic Dermatitis And Development Of Allergic Diseases, Alexandra R Sitarik, Katherine Rivera-Spoljaric, Et Al.
2020-Current year OA Pubs
IMPORTANCE: Atopic dermatitis (AD) is the most common inflammatory disease in childhood, and children with AD are more likely to develop other allergic diseases, including food allergy, allergic rhinitis, and asthma.
OBJECTIVE: To determine the phenotypes of AD expression across 12 US birth cohorts and identify factors associated with phenotype and development of allergic diseases.
DESIGN, SETTING, AND PARTICIPANTS: This cohort study compiled longitudinal data from 12 observational US birth cohorts across decades (children born from April 1980 to June 2019) in the Environmental Influences on Child Health Outcomes (ECHO) Children's Respiratory and Environmental Workgroup with follow-up to September 2022. …
Virtual Patient-Pcp-Hospitalist Care Transition Meeting Before Hospital Discharge, Jing Li, Matthew D Reuter, Jennifer M Schmidt, Nathan Moore, Nickole Forget, Jennifer Carron, Janice K Ernest, Mark V Williams
Virtual Patient-Pcp-Hospitalist Care Transition Meeting Before Hospital Discharge, Jing Li, Matthew D Reuter, Jennifer M Schmidt, Nathan Moore, Nickole Forget, Jennifer Carron, Janice K Ernest, Mark V Williams
2020-Current year OA Pubs
IMPORTANCE: The fragmented health care system presents significant challenges to promoting trust with hospitalized patients.
OBJECTIVE: To test the feasibility and perceptions of a digital connection tool for communication among patients, hospitalists, and primary care practitioners (PCPs).
DESIGN, SETTING, AND PARTICIPANTS: This quality improvement study was conducted as a feasibility pilot study from September 2022 to June 2023 on medical floors across 3 hospitals. Participants included adult inpatients, the hospitalists who managed their care, and the patients' PCPs. Data were analyzed from September 2023 to April 2025.
EXPOSURE: Structured, video-mediated interaction among the patient, family caregiver (if available), hospitalist, and …
Social, Microbial, And Immune Factors Linking Bacterial Vaginosis And Infectious Diseases, Nicole M. Gilbert, Luis A. Ramirez Hernandez, Daniela Berman, Sydney Morrill, Pascal Gagneux, Amanda L. Lewis
Social, Microbial, And Immune Factors Linking Bacterial Vaginosis And Infectious Diseases, Nicole M. Gilbert, Luis A. Ramirez Hernandez, Daniela Berman, Sydney Morrill, Pascal Gagneux, Amanda L. Lewis
2020-Current year OA Pubs
Bacterial vaginosis (BV) is a polymicrobial condition of the vaginal microbiota associated with a variety of sexually transmitted infections, infections of maternal and fetal tissues during pregnancy, and even some infections outside of the reproductive tract, including the urinary tract and mouth. BV has also been associated with conditions in which the body generates prominent inflammatory reactions to microbes, including infections of the cervix and other upper genital tract tissues. For reasons still not understood, BV is a highly recurrent and often difficult-to-treat condition, complicating attempts to prevent these associated infections. An additional layer of complexity arises from the increasing …
Iron Deficiency Without Anemia And Reduced Basal Ganglia Iron Content In Youths, Dimitri Fiani, Joo-Won Kim, Mianzhi Hu, Ramiro Salas, Sarah Heilbronner, Jacquelyn Powers, Muhammad Haque, Stephanie Dinh, Xiaofan Huang, Darrell Worthy, Sridevi Devaraj, Junqian Xu, Chadi Calarge
Iron Deficiency Without Anemia And Reduced Basal Ganglia Iron Content In Youths, Dimitri Fiani, Joo-Won Kim, Mianzhi Hu, Ramiro Salas, Sarah Heilbronner, Jacquelyn Powers, Muhammad Haque, Stephanie Dinh, Xiaofan Huang, Darrell Worthy, Sridevi Devaraj, Junqian Xu, Chadi Calarge
Faculty, Staff and Students Publications
Importance: Although brain iron is necessary for neurogenesis, myelination, and neurotransmitter synthesis, iron deficiency (ID) is defined solely based on hematological outcomes.
Objective: To examine the association of ID without anemia with basal ganglia (BG) iron content and its structural and functional sequelae in adolescents.
Design, setting, and participants: This cross-sectional study enrolled participants using the electronic medical record system from a large network of pediatrics clinics between December 2020 and April 2024. Otherwise healthy, unmedicated participants aged 10 to 17 years with a depressive or anxiety disorder or with no psychopathology were consecutively enrolled. Anemia and acute inflammation led …
Intraosseous Vs Intravenous Access For Epinephrine In Pediatric Out-Of-Hospital Cardiac Arrest, Masashi Okubo, Sho Komukai, Junichi Izawa, Sunhee Chung, Cameron Dezfulian, Francis X Guyette, Joshua R Lupton, Christian Martin-Gill, Sylvia Owusu-Ansah, Sriram Ramgopal, Clifton W Callaway
Intraosseous Vs Intravenous Access For Epinephrine In Pediatric Out-Of-Hospital Cardiac Arrest, Masashi Okubo, Sho Komukai, Junichi Izawa, Sunhee Chung, Cameron Dezfulian, Francis X Guyette, Joshua R Lupton, Christian Martin-Gill, Sylvia Owusu-Ansah, Sriram Ramgopal, Clifton W Callaway
Faculty, Staff and Students Publications
Importance: While epinephrine is commonly administered in children with out-of-hospital cardiac arrest (OHCA) via an intraosseous (IO) or intravenous (IV) route, the optimal route of epinephrine delivery is unclear.
Objective: To evaluate the association between the route of epinephrine administration (IO or IV) and patient outcomes after pediatric OHCA.
Design, setting, and participants: Retrospective cohort study of pediatric patients (aged < 18 years) with nontraumatic OHCA treated by emergency medical services who received prehospital epinephrine either via an IO or IV route. Patients were included in the Resuscitation Outcomes Consortium Epidemiologic Registry, a prospective OHCA registry at 10 sites in the US and Canada from April 2011 to June 2015. Data analysis was performed from May 2024 to April 2025.
Exposure: Epinephrine administration route: IO or IV route.
Main outcomes and measures: The primary outcome was survival to hospital discharge. The secondary outcome was return of spontaneous circulation (ROSC) before hospital arrival. Propensity scores were calculated and inverse probability of …
Identification Of A Seasonal Influenza Vaccine-Induced Broadly Protective Neuraminidase Antibody, Anders Madsen, Nisreen M A Okba, Tossapol Pholcharee, Hanover C Matz, Huibin Lv, Maria Ibanez Trullen, Julian Q Zhou, Jackson S Turner, Aaron J Schmitz, Fangjie Han, Stephen C Horvath, Sameer Kumar Malladi, Florian Krammer, Nicholas C Wu, Ali H Ellebedy
Identification Of A Seasonal Influenza Vaccine-Induced Broadly Protective Neuraminidase Antibody, Anders Madsen, Nisreen M A Okba, Tossapol Pholcharee, Hanover C Matz, Huibin Lv, Maria Ibanez Trullen, Julian Q Zhou, Jackson S Turner, Aaron J Schmitz, Fangjie Han, Stephen C Horvath, Sameer Kumar Malladi, Florian Krammer, Nicholas C Wu, Ali H Ellebedy
2020-Current year OA Pubs
Seasonal influenza viruses cause significant global illness and death annually, and the potential spillover of avian H5N1 poses a serious pandemic threat. Traditional influenza vaccines target the variable hemagglutinin (HA) protein, necessitating annual vaccine updates, while the slower-evolving neuraminidase (NA) presents a promising target for broader protection. We investigated the breadth of anti-NA B cell responses to seasonal influenza vaccination in humans. We screened plasmablast-derived monoclonal antibodies (mAbs) from three donors, identifying 11 clonally distinct NA mAbs from 268 vaccine-specific mAbs. Among these, mAb-297 showed exceptionally broad NA inhibition, effectively protecting mice against lethal doses of influenza A and B …
Cytarabine Pharmacogenomics And Outcomes Among Children And Young Adults With Acute Myeloid Leukemia, Richard J Marrero, Geoffrey L Uy, Et Al.
Cytarabine Pharmacogenomics And Outcomes Among Children And Young Adults With Acute Myeloid Leukemia, Richard J Marrero, Geoffrey L Uy, Et Al.
2020-Current year OA Pubs
IMPORTANCE: Therapeutic responses in acute myeloid leukemia (AML) demonstrate considerable variability both across and within established risk stratifications and age groups. Moreover, significant racial disparities persist, with Black patients experiencing inferior survival outcomes compared with their White counterparts.
OBJECTIVE: To validate the association of the previously reported 10 single nucleotide variant (SNV)-based ara-C pharmacogenomics score (ACS10) with survival outcomes in a large cohort of pediatric AML patients; to evaluate whether ACS10 remains relevant in an adolescent and young adult (AYA) population of patients with AML treated with similar intensive induction chemotherapy protocols; and to assess the association of ACS10 with …
Multicenter Validation Of A Machine Learning Model For Surgical Transfusion Risk At 45 Us Hospitals, Sunny S Lou, Sayantan Kumar, Charles W Goss, Michael S Avidan, Sachin Kheterpal, Thomas Kannampallil, Multicenter Perioperative Outcomes Group
Multicenter Validation Of A Machine Learning Model For Surgical Transfusion Risk At 45 Us Hospitals, Sunny S Lou, Sayantan Kumar, Charles W Goss, Michael S Avidan, Sachin Kheterpal, Thomas Kannampallil, Multicenter Perioperative Outcomes Group
2020-Current year OA Pubs
IMPORTANCE: Accurate estimation of surgical transfusion risk is important for perioperative planning and effective resource allocation. Most machine learning models in health care are not validated or perform poorly in external settings.
OBJECTIVE: To externally validate a publicly available machine learning algorithm (Surgical Personalized Anticipation of Transfusion Hazard [S-PATH]) to estimate red cell transfusion during surgery within a national sample of hospitals.
DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study evaluated all surgical cases performed in 2020 or 2021 at 45 US hospitals participating in the Multicenter Perioperative Outcomes Group. Obstetric and nonoperative cases were excluded. Data analysis was performed …
Workplace Perk Or Pitfall? A Qualitative Study Of Genetic Counselors' Perspectives And Experiences With Workplace Genetic Testing., Elizabeth Charnysh, Katherine Hendy, Kerry Ryan, Anya E R Prince, W Gregory Feero, Alyx Vogle, Sarah Mccain, Alexandra Truhlar, J Scott Roberts, Charles Lee, Kunal Sanghavi, Wendy R Uhlmann, The Insight @ Work Consortium
Workplace Perk Or Pitfall? A Qualitative Study Of Genetic Counselors' Perspectives And Experiences With Workplace Genetic Testing., Elizabeth Charnysh, Katherine Hendy, Kerry Ryan, Anya E R Prince, W Gregory Feero, Alyx Vogle, Sarah Mccain, Alexandra Truhlar, J Scott Roberts, Charles Lee, Kunal Sanghavi, Wendy R Uhlmann, The Insight @ Work Consortium
Faculty Research 2025
Some employers offer genetic testing for increased cancer and cardiovascular disease risk, as well as pharmacogenetic variants, as a wellness benefit, which presents unique considerations for genetic counseling. Our ethical, legal, and social implications (ELSI) of genomics study, positioned in a post-positivist paradigm, aimed to qualitatively assess the perspectives and experiences of genetic counselors (GCs) who had counseled on workplace genetic testing (wGT). Semi-structured interviews were conducted with 18 US GCs who either worked in the wGT industry (i.e., role-directed wGT experience) or provided post-test counseling in a clinical setting (i.e., patient-directed wGT experience). Interviews were analyzed following the principles …
Placental And Cord Blood Dna Methylation Changes Associated With Gestational Diabetes Mellitus In A Marginalized Population: The Untold Role Of Saturated Fats., Fatima Ahmad, Sidra Aftab Uzair, Arun P Lakshmanan, Shaikha Alabduljabbar, Salma H Ahmed, Basirudeen Syed Ahamed Kabeer, Alexandra Katharina Marr, Tomoshige Kino, Tobias Brummaier, Rose Mcgready, François Nosten, Damien Chaussabel, Souhaila Al Khodor, Annalisa Terranegra
Placental And Cord Blood Dna Methylation Changes Associated With Gestational Diabetes Mellitus In A Marginalized Population: The Untold Role Of Saturated Fats., Fatima Ahmad, Sidra Aftab Uzair, Arun P Lakshmanan, Shaikha Alabduljabbar, Salma H Ahmed, Basirudeen Syed Ahamed Kabeer, Alexandra Katharina Marr, Tomoshige Kino, Tobias Brummaier, Rose Mcgready, François Nosten, Damien Chaussabel, Souhaila Al Khodor, Annalisa Terranegra
Faculty Research 2025
The role of DNA methylation (DNAm) and its modulation by dietary factors in gestational diabetes mellitus (GDM) remains underexplored, particularly in marginalized populations. This study investigates DNAm alterations in GDM-exposed cord blood and placenta and their association with maternal dietary quality and single nutrient intake in a low-income population from the Myanmar-Thailand border. A matched case-control design (GDM: n = 38, controls: n = 34) was selected from a Myanmar-Thailand pregnancy cohort. Dietary intake was assessed via 24-h recalls and analyzed using Nutritionist Pro, with dietary quality evaluated by the healthy eating index (HEI). DNAm was profiled in 72 cord …
Colorectal Adenosquamous Carcinoma: Clinicopathologic Analysis Of Two Large Cohorts And Literature Review Confirm Poor Prognosis And Reveal Prognostic Aspects, Raul S Gonzalez, Rachel K Horton, Xuchen Zhang, Rondell P Graham, Teri A Longacre, Anupamjit Mehrotra, Daniela S Allende, Kelsey E Mchugh, Jinru Shia, Maria Westerhoff, Amitabh Srivastava, Wei Chen, Jennifer Vazzano, Paul E Swanson, Deyali Chatterjee, Hassam Cheema, Changqing Ma, Rifat Mannan, Runjan Chetty, Klaudia M Nowak, Stefano Serra, Diana Agostini-Vulaj, Rossana Kazemimood, Patrick Henn, Sanjay Kakar, Won-Tak Choi, Oyedele Adeyi, Sarah M Jenkins, Iris D Nagtegaal
Colorectal Adenosquamous Carcinoma: Clinicopathologic Analysis Of Two Large Cohorts And Literature Review Confirm Poor Prognosis And Reveal Prognostic Aspects, Raul S Gonzalez, Rachel K Horton, Xuchen Zhang, Rondell P Graham, Teri A Longacre, Anupamjit Mehrotra, Daniela S Allende, Kelsey E Mchugh, Jinru Shia, Maria Westerhoff, Amitabh Srivastava, Wei Chen, Jennifer Vazzano, Paul E Swanson, Deyali Chatterjee, Hassam Cheema, Changqing Ma, Rifat Mannan, Runjan Chetty, Klaudia M Nowak, Stefano Serra, Diana Agostini-Vulaj, Rossana Kazemimood, Patrick Henn, Sanjay Kakar, Won-Tak Choi, Oyedele Adeyi, Sarah M Jenkins, Iris D Nagtegaal
Faculty, Staff and Student Publications
Aims: We compiled two cohorts of colorectal adenosquamous carcinoma (ASC) to describe its histologic and molecular aspects using modern parameters to compare them with literature reports using meta-analysis of cohorts and individual case series.
Methods and results: We identified 53 colorectal ASC from 19 North American academic medical centres, in addition to national database reports on 94 Dutch cases. We analysed available clinical, histologic, and immunohistochemical features and patient outcome. ASC comprised 0.02% of colorectal cancers in the Dutch database. The median cohort patient ages at resection were 65 and 69 years (North American and Dutch cohorts, respectively), with a …
Facilitators And Barriers To Neurologist Referral Of Patients For Epilepsy Surgery Evaluation., Chloé E Hill, Daniel Hochster, Jessica E Baker, Alison L Herman, Nishad Shaheid, Susanna S O'Kula, Jack M Parent, Darin B Zahuranec, Lesli E Skolarus
Facilitators And Barriers To Neurologist Referral Of Patients For Epilepsy Surgery Evaluation., Chloé E Hill, Daniel Hochster, Jessica E Baker, Alison L Herman, Nishad Shaheid, Susanna S O'Kula, Jack M Parent, Darin B Zahuranec, Lesli E Skolarus
Neuroscience Articles
OBJECTIVE: Epilepsy surgery offers a potential cure for drug-resistant epilepsy (DRE), yet surgery is underutilized. An estimated 5% of patients with DRE undergo long-term EEG monitoring (LTM) annually, the requisite first step of evaluation for surgical candidacy. Much of the variation in LTM referral may be attributable to individual neurologist practice rather than patient characteristics. We explored neurologist behaviors and practices in epilepsy surgery referral to guide future interventions to expand patient access to surgery.
METHODS: This qualitative interview study recruited neurologists who treated adults with epilepsy. Interviews were grounded in the Theoretical Domains Framework (TDF) of behavior change to …
Perceptions Of Smoking Stigma Among African Americans: A Qualitative Study, Denine R. Crittendon, Alison C. Brecher, Samantha Okere, Richard Hass, Rosemary Frasso, Rickie Brawer, Mph, Phd, Charnita Zeigler-Johnson
Perceptions Of Smoking Stigma Among African Americans: A Qualitative Study, Denine R. Crittendon, Alison C. Brecher, Samantha Okere, Richard Hass, Rosemary Frasso, Rickie Brawer, Mph, Phd, Charnita Zeigler-Johnson
College of Population Health Faculty Papers
INTRODUCTION: African Americans/Blacks (AAB) are at increased risk for morbidity and mortality from smoking-related diseases including lung cancer (LC). Smoking stigma is believed to be a primary barrier to health care-seeking for people who smoke. Previous studies illustrate that perceptions of smoking vary across populations. However, little is known about the prevalence of smoking stigmas among AAB. The purpose of this study was to increase understanding of the perception of cigarette smoking by AAB.
AIMS AND METHODS: We conducted free-listing interviews in which individuals listed all-thoughts and feelings regarding smoking and health-related questions with a convenience sample of eligible AAB …
Utility Of Revised Risk Analysis Index As A Predictor Of Mortality And Morbidity In Orthopaedic Trauma., Chirag Soni, Victor Koltenyuk, Nithin Gupta, Haad A Arif, Aruni Areti, Taylor Manes, Luke A Lopas, Jan P Szatkowski, Christian A Bowers, Benjamin C Taylor, Jack W Weick
Utility Of Revised Risk Analysis Index As A Predictor Of Mortality And Morbidity In Orthopaedic Trauma., Chirag Soni, Victor Koltenyuk, Nithin Gupta, Haad A Arif, Aruni Areti, Taylor Manes, Luke A Lopas, Jan P Szatkowski, Christian A Bowers, Benjamin C Taylor, Jack W Weick
Trauma and Acute Care Articles
OBJECTIVES: The aim of this study was to determine the applicability of the Revised Risk Analysis Index (RAI-Rev) in orthopaedic trauma and compare the predictive discrimination for the RAI-Rev and the 5-Item Modified Frailty Index (mFI-5) for 30-day postoperative outcomes.
DESIGN: This is a retrospective cohort study.
SETTING: The American College of Surgeons National Surgical Quality Improvement database was used.
PATIENT SELECTION: All patients aged 18 or older who underwent surgical treatment for forearm, humerus, pelvis, acetabulum, femur, tibia, and hindfoot fractures from 2015 to 2020 were included.
OUTCOME: 30-day postoperative mortality, major complications, and wound complications consisting of surgical …
Surgical Management Of An Intracranial Injury Caused By A Handcrafted Arrow In Sub-Saharan Africa: A Global Neurosurgical Relevance., Allie L Heineman, Quinn Jackson, Chris Karas, Robert Galler, Victor Awuor, Hiren Patel
Surgical Management Of An Intracranial Injury Caused By A Handcrafted Arrow In Sub-Saharan Africa: A Global Neurosurgical Relevance., Allie L Heineman, Quinn Jackson, Chris Karas, Robert Galler, Victor Awuor, Hiren Patel
Trauma and Acute Care Articles
This case report and literature review describe an intracranial injury resulting from a handcrafted arrow that required emergent surgical management in a patient treated at a public hospital in Sub-Saharan Africa. The authors are members of the non-profit organizations Chunilal Initiative and Kisumu Intuitive, which deliver charitable neurosurgical care to the region on a quarterly basis. This unique neurotrauma case, involving a penetrating, contaminated, metallic object, highlights the surgical and antibacterial management of intracranial arrow injuries and emphasizes the importance of neurosurgical missions to underserved regions globally. The patient is a 16-year-old male tribal member with no known or reported …
Understanding And Addressing Mental Health Challenges Of Families Admitted To The Neonatal Intensive Care Unit., Ashley D. Osborne, Daphna Yasova Barbeau, Tiffany Gladdis, Kara Hansen, Tonia Branche, Emily R. Miller, Christine C. Pazandak, Margaret K. Hoge, Michelle Spencer, Diana Montoya-Williams, Ryan Barbeau, Heather Padratzik, Stephen Lassen
Understanding And Addressing Mental Health Challenges Of Families Admitted To The Neonatal Intensive Care Unit., Ashley D. Osborne, Daphna Yasova Barbeau, Tiffany Gladdis, Kara Hansen, Tonia Branche, Emily R. Miller, Christine C. Pazandak, Margaret K. Hoge, Michelle Spencer, Diana Montoya-Williams, Ryan Barbeau, Heather Padratzik, Stephen Lassen
Manuscripts, Articles, Book Chapters and Other Papers
This article reviews the psychological distress experienced by NICU families, including anxiety, postpartum depression (PPD), and post-traumatic stress disorder (PTSD), in addition to providing recommendations for clinicians at the individual, institutional, and national level. Currently, mental health screenings, specialized evaluations, and treatment options are not routinely offered to NICU families and are frequently under-utilized when offered. Here we provide expert opinion recommendations to address challenges in supporting universal screening, offering bedside interventions, including trained mental health professionals in care plans, updating neonatology training competencies, and advocating for policies that support the mental health of NICU families. We advocate that mental …
Reliability Of Physician Estimation Of Pelvic Free Fluid Volume On The Pediatric Focused Assessment With Sonography For Trauma., Ashkon Shaahinfar, Jennifer Rosin Wiebelhaus, Newton Addo, Ronald A. Cohen, Pinar Karakas-Rothey, Aaron E. Kornblith
Reliability Of Physician Estimation Of Pelvic Free Fluid Volume On The Pediatric Focused Assessment With Sonography For Trauma., Ashkon Shaahinfar, Jennifer Rosin Wiebelhaus, Newton Addo, Ronald A. Cohen, Pinar Karakas-Rothey, Aaron E. Kornblith
Manuscripts, Articles, Book Chapters and Other Papers
OBJECTIVES: To evaluate the reliability of physician gestalt estimation of pelvic free fluid volume on pediatric Focused Assessment with Sonography for Trauma (FAST). To determine a reliable cut-off volume and characteristics associated with small pelvic free fluid.
METHODS: Our study assessed the ability of 2 ultrasound-trained pediatric emergency medicine (PEM) physicians and 2 pediatric radiologists to characterize pelvic free fluid in a retrospective convenience sample of archived FAST from a Level 1 pediatric trauma center, April 2018-June 2020. Inter- and intra-rater reliability were measured to determine the most reliable volume cut-off. Chi-squared and Fisher's exact tests determined characteristics associated with …
Validity And Reliability Of The Tampa Scale For Kinesiophobia For Adolescents With Heart Disease., David A. White, William R. Black, Emily Cramer, Lindsey Malloy-Walton, Mollie Walton, Laura Martis, Brandy Enneking, Kelli M. Teson, Jessica S. Watson, Jami Gross-Toalson
Validity And Reliability Of The Tampa Scale For Kinesiophobia For Adolescents With Heart Disease., David A. White, William R. Black, Emily Cramer, Lindsey Malloy-Walton, Mollie Walton, Laura Martis, Brandy Enneking, Kelli M. Teson, Jessica S. Watson, Jami Gross-Toalson
Manuscripts, Articles, Book Chapters and Other Papers
PURPOSE: To assess the validity and reliability of a newly adapted Tampa Scale for KP for adolescents with HD (TSK-Heart-A).
METHODS: The TSK-Heart-A survey consists of 17 Likert scale items, producing a summary score (SS) ranging from 17 (low KP) to 68 (high KP). Following content and face validity, adolescents (age 12-18 yr) with arrhythmia disorders or Fontan palliation were recruited. The PROMIS pediatric anxiety and depression short forms, Pediatric Quality of Life Inventory (PedsQL) generic core and cardiac module, and a PA questionnaire for adolescents (PAQ-A) were used for criterion validity. The TSK-Heart-A was completed twice (20.4 ± 6.3 …