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Full-Text Articles in Medicine and Health Sciences

Novel Validation Of Hdr Brachy Therapy Dosimetry For Cervical Cancer Using Egs_Brachy Monte Carlo Simulations: A Comparative Analysis With Oncentra Treatment Planning System., Duong Thanh Tai, Nguyen Thi Anh Thu, Tran Thien Thanh, Pham Anh Tuan, Marc J P Chamberland, Peter Sandwall, David Bradley, James C L Chow Jul 2025

Novel Validation Of Hdr Brachy Therapy Dosimetry For Cervical Cancer Using Egs_Brachy Monte Carlo Simulations: A Comparative Analysis With Oncentra Treatment Planning System., Duong Thanh Tai, Nguyen Thi Anh Thu, Tran Thien Thanh, Pham Anh Tuan, Marc J P Chamberland, Peter Sandwall, David Bradley, James C L Chow

Oncology Articles

PURPOSE: This study aims to validate HDR brachytherapy dosimetry for cervical cancer patients utilizing the egs_brachy Monte Carlo (MC) simulation.

METHODS: Three cervical cancer patients treated with

RESULTS: TPS-calculated doses were greater than those obtained from MC simulations. For the CTV, the median percentage differences were 7.9% (Q1: 6.4%, Q3: 9.8%; range: 0.4%-10.4%) for D

CONCLUSION: CTV and critical organ doses calculated by the TPS were consistently greater than those obtained from MC simulations. This suggests that the TPS may overestimate dose distributions, especially in heterogeneous regions like the pelvis. These results emphasize the need for continued validation of TPS …


Teaching Pathographies Of Mental Illness, Nathan Carlin, Angela Gomez, Margarita Ortiz Jul 2025

Teaching Pathographies Of Mental Illness, Nathan Carlin, Angela Gomez, Margarita Ortiz

Faculty and Staff Publications

This paper describes the content and evolution of a fourth-year course for medical students on teaching pathographies of mental illness. (It is a follow-up to Nathan Carlin's Pathographies of Mental Illness that appeared as an Element in the Bioethics and Neuroethics series published by Cambridge University Press.) The course originally centered on classic (and some contemporary) memoirs; however, responding to student evaluations, newer material now ensures more diversity, with material written by women and people of color, and describes the difference that can make.


The Impact Of Diabetes And Metabolic Syndrome Burden On Pain, Neuropathy Severity And Fiber Type, Long Davalos, Brian C Callaghan, Lavanya Muthukumar, Simone Thomas, Evan L Reynolds, A Gordon Smith, J Robinson Singleton, Ahmet Höke, Senda Ajroud-Driss, Mazen M Dimachkie, Stefanie Geisler, David M Simpson, Pnrr Study Group, Amro M Stino Jul 2025

The Impact Of Diabetes And Metabolic Syndrome Burden On Pain, Neuropathy Severity And Fiber Type, Long Davalos, Brian C Callaghan, Lavanya Muthukumar, Simone Thomas, Evan L Reynolds, A Gordon Smith, J Robinson Singleton, Ahmet Höke, Senda Ajroud-Driss, Mazen M Dimachkie, Stefanie Geisler, David M Simpson, Pnrr Study Group, Amro M Stino

2020-Current year OA Pubs

OBJECTIVE: Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy.

METHODS: The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes (DPN) and non-diabetic peripheral neuropathy (cryptogenic sensory polyneuropathy and prediabetes) using cross-sectional observational data. Associations between diabetes or MetS burden and pain presence (yes/no), neuropathy severity (Total Neuropathy Score reduced), and fiber type involvement (pinprick, vibration, and proprioception examination-small, large, mixed) using logistic, linear, and multinomial regression models were determined.

RESULTS: A total of …


Native Nucleosomes Intrinsically Encode Genome Organization Principles, Sangwoo Park, Raquel Merino-Urteaga, Violetta Karwacki-Neisius, Gustavo Ezequiel Carrizo, Advait Athreya, Alberto Marin-Gonzalez, Nils A Benning, Jonghan Park, Michelle M Mitchener, Natarajan V Bhanu, Benjamin A Garcia, Bin Zhang, Tom W Muir, Erika L Pearce, Taekjip Ha Jul 2025

Native Nucleosomes Intrinsically Encode Genome Organization Principles, Sangwoo Park, Raquel Merino-Urteaga, Violetta Karwacki-Neisius, Gustavo Ezequiel Carrizo, Advait Athreya, Alberto Marin-Gonzalez, Nils A Benning, Jonghan Park, Michelle M Mitchener, Natarajan V Bhanu, Benjamin A Garcia, Bin Zhang, Tom W Muir, Erika L Pearce, Taekjip Ha

2020-Current year OA Pubs

The eukaryotic genome is packed into nucleosomes of 147 base pairs around a histone core and is organized into euchromatin and heterochromatin, corresponding to the A and B compartments, respectively


Factors Associated With Self-Report Symptom Screening Adherence In Pediatric Cancer Patients, L Lee Dupuis, Allison A King, Lisa M Klesges, Et Al. Jul 2025

Factors Associated With Self-Report Symptom Screening Adherence In Pediatric Cancer Patients, L Lee Dupuis, Allison A King, Lisa M Klesges, Et Al.

2020-Current year OA Pubs

INTRODUCTION: Objective was to describe the association between baseline characteristics and the number of Symptom Screening in Pediatrics Tool (SSPedi) assessments completed over an 8-week period.

METHODS: This was a sub-analysis of a cluster randomized controlled trial among 10 sites that were randomized to the intervention group. Participants were English- or Spanish-speaking pediatric patients 8-18 years of age newly diagnosed with cancer. Participants were prompted to complete SSPedi three times weekly for 8 weeks. The outcome was the number of SSPedi assessments completed during the 8-week period. Factors associated with the number of assessments were determined using mixed effects Poisson …


Exploring The Clinical Utility Of Neurofilament Light Chain Assays In Multiple Sclerosis Management., Amit Bar-Or, Jacqueline Nicholas, Jenny Feng, Francesca Sorrell, Mark Cascione Jul 2025

Exploring The Clinical Utility Of Neurofilament Light Chain Assays In Multiple Sclerosis Management., Amit Bar-Or, Jacqueline Nicholas, Jenny Feng, Francesca Sorrell, Mark Cascione

Neuroscience Articles

Multiple sclerosis (MS) is a chronic neuroinflammatory and neurodegenerative disease that affects nearly 1 million adults in the United States. Owing to its unpredictable disease course, diverse phenotypes, and an array of currently available disease-modifying therapies, a personalized approach to MS management is required. There is an unmet need to identify, validate, and incorporate prognostic, monitoring, and predictive biomarkers into routine clinical practice for MS. A mounting body of evidence supports the use of blood biomarkers, such as neurofilament light chain (NfL), in predicting disease activity and monitoring treatment response. Previous hurdles for the widespread use of NfL in the …


Who Reconstitutes The Chemotherapy? The Educational And Practice Needs Of Oncology Pharmacists In West Africa: A Call For Multidisciplinary Team Approach In Oncology Care., Runcie C.W. Chidebe, Ramatu M. Alabelewe, Krishna Prasad Sapkota, Darlingtina K. Esiaka, Candidus C. Nwakasi, Gloria C. Okwu, Jacinta Emejulu, Adamu A. Umar, Ndifreke Okwuegbunam, Funsho David, Toyosi Adepoju, Agha A. Agha, Ejike S. Ugwu, Simeon C. Aruah, Richard Mshelia, Rob Duncombe, Noel N. Wannang, Peace C. Babalola, R. Donald Harvey, Cindy O'Bryant, Folakemi T. Odedina Jul 2025

Who Reconstitutes The Chemotherapy? The Educational And Practice Needs Of Oncology Pharmacists In West Africa: A Call For Multidisciplinary Team Approach In Oncology Care., Runcie C.W. Chidebe, Ramatu M. Alabelewe, Krishna Prasad Sapkota, Darlingtina K. Esiaka, Candidus C. Nwakasi, Gloria C. Okwu, Jacinta Emejulu, Adamu A. Umar, Ndifreke Okwuegbunam, Funsho David, Toyosi Adepoju, Agha A. Agha, Ejike S. Ugwu, Simeon C. Aruah, Richard Mshelia, Rob Duncombe, Noel N. Wannang, Peace C. Babalola, R. Donald Harvey, Cindy O'Bryant, Folakemi T. Odedina

Behavioral Science Faculty Publications

PURPOSE: Oncology pharmacists (OPs) play a crucial role in cancer care, treatment, survivorship, and multidisciplinary teams (MDTs). OPs have specialized training in designing, administering, monitoring, and modifying oncology chemotherapy; managing adverse events; and evaluating clinical trials and investigational drugs. Yet, the state of OP has remained largely unknown in the clinical oncology workforce of the West African region. Therefore, this study aimed to understand who reconstitutes chemotherapy and to explain the OP educational and practice needs, challenges, and solutions in Nigeria.

MATERIALS AND METHODS: Using a concurrent embedded mixed method design, 35 OPs completed a questionnaire, and 12 others responded …


Evaluating Large Language Model Performance To Support The Diagnosis And Management Of Patients With Primary Immune Disorders, Nicholas L Rider, Yingya Li, Aaron T Chin, Daniel V Digiacomo, Cullen Dutmer, Jocelyn R Farmer, Kirk Roberts, Guergana Savova, Mei-Sing Ong Jul 2025

Evaluating Large Language Model Performance To Support The Diagnosis And Management Of Patients With Primary Immune Disorders, Nicholas L Rider, Yingya Li, Aaron T Chin, Daniel V Digiacomo, Cullen Dutmer, Jocelyn R Farmer, Kirk Roberts, Guergana Savova, Mei-Sing Ong

Faculty, Staff and Student Publications

Background: Generative artificial intelligence (GAI) is transforming health care in a variety of ways; however, the present utility of GAI for supporting clinicians who treat rare disease such as primary immune disorders (PIs) is not well studied. We evaluated the ability of 6 state-of-the-art large language models (LLMs) for providing clinical guidance about PIs.

Objective: To quantitatively and qualitatively measure the utility of current, open-source LLMs for diagnosing and providing helpful clinical decision support about PIs.

Methods: Five expert clinical immunologists each provided 5 real-world, anonymized PI case vignettes via multi-turn prompting to 6 LLMs (OpenAI GPT-4o, Llama-3.1-8B-Instruct, Llama-3.1-70B-Instruct, Mistral-7B-Instruct-v0.3, …


The Landscape Of Malignant Transition: Unraveling Cancer Cell-Of-Origin And Heterogeneous Tissue Microenvironment, Ruihan Luo, Jiajia Liu, Tiangang Wang, Weiling Zhao, Yanfei Wang, Jianguo Wen, Hongyu Wang, Shanli Ding, Xiaobo Zhou Jul 2025

The Landscape Of Malignant Transition: Unraveling Cancer Cell-Of-Origin And Heterogeneous Tissue Microenvironment, Ruihan Luo, Jiajia Liu, Tiangang Wang, Weiling Zhao, Yanfei Wang, Jianguo Wen, Hongyu Wang, Shanli Ding, Xiaobo Zhou

Faculty, Staff and Student Publications

Understanding disease progression and sophisticated tumor ecosystems is imperative for investigating tumorigenesis mechanisms and developing novel prevention strategies. Here, we dissected heterogeneous microenvironments during malignant transitions by leveraging data from 1396 samples spanning 13 major tissues. Within transitional stem-like subpopulations highly enriched in precancers and cancers, we identified 30 recurring cellular states strongly linked to malignancy, including hypoxia and epithelial senescence, revealing a high degree of plasticity in epithelial stem cells. By characterizing dynamics in stem-cell crosstalk with the microenvironment along the pseudotime axis, we found differential roles of ANXA1 at different stages of tumor development. In precancerous stages, reduced …


Choroid Plexus Apocrine Secretion Shapes Csf Proteome During Mouse Brain Development, Ya'el Courtney, Joshua P Head, Neil Dani, Olga V. Chechneva, Frederick B Shipley, Yong Zhang, Michael J Holtzman, Cameron Sadegh, Towia A Libermann, Maria K Lehtinen Jul 2025

Choroid Plexus Apocrine Secretion Shapes Csf Proteome During Mouse Brain Development, Ya'el Courtney, Joshua P Head, Neil Dani, Olga V. Chechneva, Frederick B Shipley, Yong Zhang, Michael J Holtzman, Cameron Sadegh, Towia A Libermann, Maria K Lehtinen

2020-Current year OA Pubs

The choroid plexus (ChP) regulates cerebrospinal fluid (CSF) composition, providing essential molecular cues for brain development; yet, embryonic ChP secretory mechanisms remain poorly defined. Here we identify apocrine secretion by embryonic ChP epithelial cells as a key regulator of the CSF proteome and neurodevelopment in male and female mice. We demonstrate that the activation of serotonergic 5-HT


Dna Methylation Epitypes Of Burkitt Lymphoma With Distinct Molecular And Clinical Features, Nicole Thomas, Nancy L Bartlett, Et Al. Jul 2025

Dna Methylation Epitypes Of Burkitt Lymphoma With Distinct Molecular And Clinical Features, Nicole Thomas, Nancy L Bartlett, Et Al.

2020-Current year OA Pubs

UNLABELLED: The genetic subtypes of Burkitt lymphoma have been defined, but the role of epigenetics remains to be comprehensively characterized. We searched genomic DNA from 218 patients across four continents for recurrent DNA methylation patterns and their associations with clinical and molecular features. We identified DNA methylation patterns that were not fully explained by the Epstein-Barr virus status or mutation status, leading to two epitypes described here as HypoBL and HyperBL. Each is characterized by distinct genomic and clinical features including global methylation, mutation burden, aberrant somatic hypermutation, and survival outcomes. Methylation, gene expression, and mutational differences between the epitypes …


Mayo Normative Studies: Regression-Based Normative Data For Remote Self-Administration Of The Stricker Learning Span, Symbols Test, And Mayo Test Drive Screening Battery Composite And Validation In Individuals With Mild Cognitive Impairment And Dementia, Nikki H Stricker, Jason Hassenstab, Et Al. Jul 2025

Mayo Normative Studies: Regression-Based Normative Data For Remote Self-Administration Of The Stricker Learning Span, Symbols Test, And Mayo Test Drive Screening Battery Composite And Validation In Individuals With Mild Cognitive Impairment And Dementia, Nikki H Stricker, Jason Hassenstab, Et Al.

2020-Current year OA Pubs

No abstract provided.


Systemic Exogenous Progestins With Or Without Estrogens Are Associated With Decreased Rates Of Venous Procedures For Varicose Veins, Paarth Jain, Adam M. Ostrovsky, Paul J Dimuzio, Luis H. Eraso, Michael Nooromid, Dawn Salvatore, Babak Abai Jul 2025

Systemic Exogenous Progestins With Or Without Estrogens Are Associated With Decreased Rates Of Venous Procedures For Varicose Veins, Paarth Jain, Adam M. Ostrovsky, Paul J Dimuzio, Luis H. Eraso, Michael Nooromid, Dawn Salvatore, Babak Abai

Department of Surgery Faculty Papers

OBJECTIVES: Risk factors for varicose veins (VVs) such as female sex, pregnancy, and obesity are high estrogen states, yet the role of systemic progestins with or without estrogens (SPEs) in VV management is not well characterized. This study investigates how SPE use affects rates of venous procedures for patients with VV.

METHODS: The TriNetX database was queried for subjects with International Classification of Diseases, 10th edition, diagnoses of asymptomatic VV, chronic venous insufficiency, and complicated VV (inflammation or ulceration). Patients were divided into a control cohort with no subsequent SPE use, a progestin-only cohort, and a combined estrogen-progestin (CEP) cohort. …


Individualized Functional And Structural Language Lateralities In Temporal Lobe Epilepsy And Their Impact On Memory, Ankeeta Ankeeta, Qirui Zhang, Sam Sharifzadeh Javidi, Shilpi Modi, Michael R. Sperling, Joseph I. Tracy Jul 2025

Individualized Functional And Structural Language Lateralities In Temporal Lobe Epilepsy And Their Impact On Memory, Ankeeta Ankeeta, Qirui Zhang, Sam Sharifzadeh Javidi, Shilpi Modi, Michael R. Sperling, Joseph I. Tracy

Department of Neurology Faculty Papers

The basis and impact of functional asymmetries in the brain, particularly language lateralization, are not fully understood, and the relationship between functional and structural asymmetries remains largely untested. This study investigated the degree to which asymmetries in hemispheric language laterality are concordant with asymmetries in gray matter (GM) structure and whether the hemispheric organization of memory is influenced by functional language asymmetries. Structural and functional MR data was acquired from 261 individuals, including those with unilateral temporal lobe epilepsy (LTLE = 96, RTLE = 69) and matched with healthy participants (HPs = 96). Functional language laterality indices (LIs) were calculated …


Profile Of Trna-Derived Short Non-Coding Rnas During Monocyte Differentiation And Their Role In Macrophage Survival, Anahita Jayaram, Sanjeev Galande, Soroush Sharbati, Deepak A. Deshpande, Phd, Kamlesh Pawar Jul 2025

Profile Of Trna-Derived Short Non-Coding Rnas During Monocyte Differentiation And Their Role In Macrophage Survival, Anahita Jayaram, Sanjeev Galande, Soroush Sharbati, Deepak A. Deshpande, Phd, Kamlesh Pawar

Center for Translational Medicine Faculty Papers

Monocytes, a type of leukocytes, are key players in immune responses, transitioning to macrophages at infection sites. Differentiation, which is crucial for macrophage survival and resistance to apoptosis, is a tightly regulated process. Based on our earlier findings implicating the 5'-fragment of tRNAHisGUG (5'-HisGUG) in macrophage biology, we specifically focused on these fragments to investigate its regulation during monocyte-to-macrophage differentiation and its role in macrophage survival. We performed small RNA sequencing during monocyte-to-macrophage differentiation using THP-1 cells and identified 5'-HisGUG as a prominently regulated tDR. Notably, transfection of 5'-HisGUG in macrophages decreased survival under apoptotic stress. We propose that 5'-HisGUG …


Anxiety And Depression In Today's Youth: A Current Look Into Assessment And Treatment., Meredith J. Scafe, Meghan Kanya, Meaghan Flynn, Ram Chettiar Jul 2025

Anxiety And Depression In Today's Youth: A Current Look Into Assessment And Treatment., Meredith J. Scafe, Meghan Kanya, Meaghan Flynn, Ram Chettiar

Manuscripts, Articles, Book Chapters and Other Papers

Following the COVID-19 pandemic, the American Academy of Pediatrics (AAP), the American Academy of Child and Adolescent Psychiatry, and the Children's Hospital Association declared a national emergency in child and adolescent mental health. Rates of anxiety and depression in youth continue at unprecedented levels, contributing to rising numbers of suicide attempts and lowered school attendance. Though many medical providers are trained to assess and provide recommendations for anxiety and depression, many report feeling ill-equipped to address these concerns in a timely, feasible, and effective manner. We review the existing literature on screening for anxiety and depression in the medical setting …


The Diabetes Prevention Program And Its Outcomes Study: Niddk's Journey Into The Prevention Of Type 2 Diabetes And Its Public Health Impact, Jill P Crandall, Dana Dabelea, William C Knowler, David M Nathan, Marinella Temprosa, Dpp Research Group Jul 2025

The Diabetes Prevention Program And Its Outcomes Study: Niddk's Journey Into The Prevention Of Type 2 Diabetes And Its Public Health Impact, Jill P Crandall, Dana Dabelea, William C Knowler, David M Nathan, Marinella Temprosa, Dpp Research Group

Children’s Nutrition Research Center Staff Publications

The current-day epidemic of type 2 diabetes, largely driven by increased adiposity and reduced physical activity in the setting of genetic susceptibility, is a major public health challenge. The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) presciently proposed the Diabetes Prevention Program (DPP), a multicenter randomized clinical trial, designed by investigators in conjunction with NIDDK staff and initiated in 1996. The primary goal of DPP was to determine whether an intensive lifestyle intervention (ILS) or metformin in comparison with placebo would reduce the development of diabetes in a high-risk population with prediabetes. After mean 2.8 years, ILS …


A Descriptive Bibliometric Study Of Cera Publication Dissemination, Authorship, And Citation Rates., Bryce A Ringwald, Jennifer L Middleton Jul 2025

A Descriptive Bibliometric Study Of Cera Publication Dissemination, Authorship, And Citation Rates., Bryce A Ringwald, Jennifer L Middleton

Medical Education Articles

BACKGROUND AND OBJECTIVES: Barriers to performing family medicine research include funding, infrastructure, and mentorship shortages. The Council of Academic Family Medicine Educational Research Alliance (CERA) was created in 2011 to address these issues. This study explores the scope and impact of CERA-related publications in family medicine.

METHODS: We performed a descriptive bibliometric study of CERA-related publications from 2011 to 2023. Articles were sourced from Medline (PubMed), SCOPUS, and the CERA website. Data analysis focused on publication type, authors, CERA survey type, and citation rates.

RESULTS: From a total of 231 articles retrieved via initial searches and 166 from the CERA …


First-In-Human Phase 1 Study Of Khk2455 Monotherapy And In Combination With Mogamulizumab In Patients With Advanced Solid Tumors, Timothy A Yap, Olivier Rixe, Capucine Baldini, Ursa Brown-Glaberman, Sergey Efuni, David S Hong, Christophe Massard, Jameel Muzaffar, Andreea Varga, Emrullah Yilmaz, Yuta Ikawa, Lisa H Shiue, Yi Liu, Matthew W Hruska, Henry Zhao, Akihiro Tokunaga, Solmaz Sahebjam Jul 2025

First-In-Human Phase 1 Study Of Khk2455 Monotherapy And In Combination With Mogamulizumab In Patients With Advanced Solid Tumors, Timothy A Yap, Olivier Rixe, Capucine Baldini, Ursa Brown-Glaberman, Sergey Efuni, David S Hong, Christophe Massard, Jameel Muzaffar, Andreea Varga, Emrullah Yilmaz, Yuta Ikawa, Lisa H Shiue, Yi Liu, Matthew W Hruska, Henry Zhao, Akihiro Tokunaga, Solmaz Sahebjam

Faculty, Staff and Student Publications

Background: Indoleamine 2,3-dioxygenase 1 (IDO1) is a heme-containing enzyme that degrades tryptophan (Trp) to kynurenine (Kyn), which suppresses effector T cells and reduces antitumor activity. KHK2455 is a long-acting selective IDO1 inhibitor that blocks the heme component of the IDO holoenzyme. Mogamulizumab is a humanized immunoglobulin G1 monoclonal antibody targeting CCR4. KHK2455 + mogamulizumab demonstrated enhanced antitumor activity in preclinical studies, which led to a first-in-human, two-part, multicenter, open-label, phase 1, dose-escalation, cohort-expansion trial (ClinicalTrials.gov identifier NCT02867007) evaluating the safety/tolerability, pharmacokinetics, and IDO1 activity of KHK2455 alone and in combination with mogamulizumab in patients with treatment-refractory advanced solid tumors. …


Genome-Wide Association Meta-Analysis Of Human Olfactory Identification Discovers Sex-Specific And Sex-Differential Genetic Variants, Franz Förster, David Emmert, Katrin Horn, Janne Pott, Johannes Frasnelli, Mohammed Aslam Imtiaz, Konstantinos Melas, Valentina Talevi, Honglei Chen, Christoph Engel, Michele Filosi, Myriam Fornage, Martin Gögele, Markus Löffler, Thomas H Mosley, Cristian Pattaro, Peter Pramstaller, Srishti Shrestha, N Ahmad Aziz, Monique M B Breteler, Kerstin Wirkner, Markus Scholz, Christian Fuchsberger Jul 2025

Genome-Wide Association Meta-Analysis Of Human Olfactory Identification Discovers Sex-Specific And Sex-Differential Genetic Variants, Franz Förster, David Emmert, Katrin Horn, Janne Pott, Johannes Frasnelli, Mohammed Aslam Imtiaz, Konstantinos Melas, Valentina Talevi, Honglei Chen, Christoph Engel, Michele Filosi, Myriam Fornage, Martin Gögele, Markus Löffler, Thomas H Mosley, Cristian Pattaro, Peter Pramstaller, Srishti Shrestha, N Ahmad Aziz, Monique M B Breteler, Kerstin Wirkner, Markus Scholz, Christian Fuchsberger

Faculty, Staff and Student Publications

Smelling is a human sense, expressing strong sexual dimorphisms. We aim to improve the knowledge of the genetics of human olfactory perception by performing an exploratory genome-wide association meta-analysis of up to 21,495 individuals of European ancestry. By sex-stratified and overall analysis of the identification of twelve odours and an identification score, we discovered ten independent loci, seven of them novel, with trait-wise genome-wide significance (p <  5 × 10−8) involving five odours. Seven of these loci, including four novel ones, are also significant using a stricter study-wide significance threshold (p <  3.85 × 10−9). Loci were predominantly located within clusters of olfactory receptors. Two loci were female-specific while one was sex-differential with respective candidate genes containing androgen response elements. Two-sample Mendelian randomization was applied to search for causal relationships between sex hormones, odour identification and neurodegenerative diseases. A causal negative effect was detected for Alzheimer’s disease on the identification score. These findings deepen our understanding of the genetic basis of olfactory perception and its interaction with sex, prioritizing mechanisms for further molecular research.


Dietary Patterns, Serum Metabolites, And Risk Of Cardiovascular Disease In United States Hispanic/Latino Adults: A Prospective Analysis Of The Hispanic Community Health Study/Study Of Latinos (Hchs/Sol), Hongbo Yang, Yi Wang, Kai Luo, Yasmin Mossavar-Rahmani, Christina Cordero, Robert J Ostfeld, Claudia Martinez, Luis Maldonado, Amber Pirzada, Martha Daviglus, Bing Yu, Frank B Hu, Robert C Kaplan, Qibin Qi Jul 2025

Dietary Patterns, Serum Metabolites, And Risk Of Cardiovascular Disease In United States Hispanic/Latino Adults: A Prospective Analysis Of The Hispanic Community Health Study/Study Of Latinos (Hchs/Sol), Hongbo Yang, Yi Wang, Kai Luo, Yasmin Mossavar-Rahmani, Christina Cordero, Robert J Ostfeld, Claudia Martinez, Luis Maldonado, Amber Pirzada, Martha Daviglus, Bing Yu, Frank B Hu, Robert C Kaplan, Qibin Qi

Faculty, Staff and Student Publications

Background: Healthy dietary patterns are recommended to prevent cardiovascular disease (CVD), yet the relationships among healthy dietary patterns, blood metabolite profile, and incident CVD are not well understood.

Objectives: This study aimed to assess the associations of healthy dietary patterns and related serum metabolite profiles with incident CVD in United States Hispanic/Latino adults.

Methods: The study included 13,922 participants aged 18-74 y from the Hispanic Community Health Study/Study of Latinos. Dietary pattern scores, including Healthy Eating Index (HEI)-2020, healthful Plant-based Diet Index (hPDI), and alternate Mediterranean diet score (aMED), were constructed at baseline (2008-2011) based on 2 24-h dietary recalls. …


Pulmonary Complications Associated With Sugammadex Or Neostigmine In Patients Recovering From Advanced Diagnostic Or Interventional Bronchoscopy: A Retrospective Two-Centre Analysis, Ehab Farag, Karan Shah, Maged Argalious, Basem Abdelmalak, Thomas Gildea, John Seif, Shuyi Li, Edward J Mascha, Daniel I Sessler Jul 2025

Pulmonary Complications Associated With Sugammadex Or Neostigmine In Patients Recovering From Advanced Diagnostic Or Interventional Bronchoscopy: A Retrospective Two-Centre Analysis, Ehab Farag, Karan Shah, Maged Argalious, Basem Abdelmalak, Thomas Gildea, John Seif, Shuyi Li, Edward J Mascha, Daniel I Sessler

Faculty, Staff and Student Publications

Background: Many diagnostic and interventional procedures are performed in bronchoscopy suites in high-risk patients. Minor impairment in respiratory muscle function caused by incomplete reversal of neuromuscular block can contribute to postoperative pulmonary complications (PPCs). We assessed whether there are fewer serious PPCs after diagnostic or therapeutic bronchoscopy when neuromuscular block is reversed with sugammadex rather than neostigmine.

Methods: This is a retrospective cohort study for bronchoscopy under general anaesthesia with the use of neuromuscular blockers between July 2016 and June 2022. The primary outcome was a composite of PPCs. The secondary outcome was hypoxaemia. We used inverse probability of treatment …


Investigation Of A Pathogenic Inversion In Unc13d And Comprehensive Analysis Of Chromosomal Inversions Across Diverse Datasets, Tugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, Ugur Sezerman, Ivan K Chinn, Zeynep Coban-Akdemir, Claudia M B Carvalho Jul 2025

Investigation Of A Pathogenic Inversion In Unc13d And Comprehensive Analysis Of Chromosomal Inversions Across Diverse Datasets, Tugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, Ugur Sezerman, Ivan K Chinn, Zeynep Coban-Akdemir, Claudia M B Carvalho

Faculty, Staff and Student Publications

Inversions are known contributors to the pathogenesis of genetic diseases. Identifying inversions poses significant challenges, making it one of the most demanding structural variants (SVs) to detect and interpret. Recent advancements in sequencing technologies and the development of publicly available SV datasets have substantially enhanced our capability to explore inversions. However, a cross-comparison in those datasets remains unexplored. In this study, we reported a proband with familial hemophagocytic lymphohistiocytosis type-3 carrying a splicing variant (c.1389+1G>A) in trans with an inversion present in 0.006345% of individuals in gnomAD (v4.0) that disrupts UNC13D. Based on this result, we investigate the features …


The Impact Of Household Dysfunction On Dating Violence Perpetration Among Adolescents In The United States: A Scoping Review, Sumaita Choudhury, Melissa F Peskin, Timothy J Walker, Emily T Hébert, Nivedhitha Parthasarathy, Kaitlyn L Zajack-Garcia, Lea Sacca, Christine M Markham Jul 2025

The Impact Of Household Dysfunction On Dating Violence Perpetration Among Adolescents In The United States: A Scoping Review, Sumaita Choudhury, Melissa F Peskin, Timothy J Walker, Emily T Hébert, Nivedhitha Parthasarathy, Kaitlyn L Zajack-Garcia, Lea Sacca, Christine M Markham

Faculty, Staff and Student Publications

Adverse childhood experiences, such as household dysfunction (HD), play a central role in how adolescents establish, experience, and navigate the challenges of relationship formation, maintenance, and dissolution. HD exposures have been independently associated with dating violence (DV) perpetration in both adolescents and adults. However, research examining the association between the concurrent effect of HD on DV perpetration, especially among adolescents remains scarce. Thus, we conducted a scoping review to accumulate and summarize existing research regarding the impact of HD on DV perpetration among adolescents aged 10 to 17 years in the United States. We used three electronic databases, Medline (Ovid), …


The Loss Of Opa1 Accelerates Intervertebral Disc Degeneration And Osteoarthritis In Aged Mice, Vedavathi Madhu, Miriam Hernandaz-Meadows, Ashley Coleman, Kimheak Sao, Kameron Inguito, Owen Haslam, Paige Boneski, Hiromi Sesaki, Ruteja Barve, John Collins, Makarand Risbud Jul 2025

The Loss Of Opa1 Accelerates Intervertebral Disc Degeneration And Osteoarthritis In Aged Mice, Vedavathi Madhu, Miriam Hernandaz-Meadows, Ashley Coleman, Kimheak Sao, Kameron Inguito, Owen Haslam, Paige Boneski, Hiromi Sesaki, Ruteja Barve, John Collins, Makarand Risbud

Department of Orthopaedic Surgery Faculty Papers

Recent studies have highlighted the importance of mitochondria in NP cells and articular chondrocyte health. Since the understanding of mechanisms governing mitochondrial dynamics in these tissues is lacking, we investigated the role of OPA1, a mitochondrial fusion protein, in their homeostasis. OPA1 knockdown in NP cells altered mitochondrial size and cristae shape and increased the oxygen consumption rate. OPA1 governed the morphology of multiple organelles, including peroxisomes, early endosomes and cis-Golgi and loss resulted in the dysregulation of autophagy. Metabolic profiling and


Validation Of Established Thyroid Ultrasound Volume Norms In A Chernobyl Cohort, Lydia B. Zablotska, Robert J. Mcconnell, Aleksandr V. Rozhko, Patrick O'Kane, Vasilina Yauseyenka, Mark P. Little, Victor Minenko, Vladimir Drozdovitch, Tamara Moskvicheva, Maureen Hatch, Tamara Yeudachkova, Kiyohiko Mabuchi, Elizabeth K. Cahoon Jul 2025

Validation Of Established Thyroid Ultrasound Volume Norms In A Chernobyl Cohort, Lydia B. Zablotska, Robert J. Mcconnell, Aleksandr V. Rozhko, Patrick O'Kane, Vasilina Yauseyenka, Mark P. Little, Victor Minenko, Vladimir Drozdovitch, Tamara Moskvicheva, Maureen Hatch, Tamara Yeudachkova, Kiyohiko Mabuchi, Elizabeth K. Cahoon

Department of Radiology Faculty Papers

OBJECTIVE: To establish thyroid ultrasound volume norms appropriate for studies of diffuse goiter in a cohort of children and adolescents from an iodine-deficient population exposed to 131I by the Chernobyl fallout.

METHODS: A cohort of 11,970 Belarusians aged ≤18 years at the time of the 1986 Chernobyl accident with individual thyroid radiation dose estimates was screened 10-18 years later. From these, a low-dose subset of 2,392 with no thyroid diseases was selected to construct age- and sex-specific normative values for thyroid ultrasound volume, compared to Belarusian Ministry of Health (MOH) norms and existing WHO and European standards.

RESULTS: Cohort-specific values …


High-Impact Chronic Pain And Cognitive Decline Among Mexicans Aged 60 And Older From 2012 To 2018, Sadaf Arefi Milani, Sirena Gutierrez, Brandon O'Grady, Rebeca Wong, Rafael Samper-Ternent, Brian Downer Jul 2025

High-Impact Chronic Pain And Cognitive Decline Among Mexicans Aged 60 And Older From 2012 To 2018, Sadaf Arefi Milani, Sirena Gutierrez, Brandon O'Grady, Rebeca Wong, Rafael Samper-Ternent, Brian Downer

Faculty, Staff and Student Publications

Pain is associated with cognitive decline, but prior research has not considered differences between high- and low-impact chronic pain or low-and middle-income countries, such as Mexico. Our objective was to evaluate the association between high-impact chronic pain and cognitive decline among older adults in Mexico. We used data from the 2012-2018 Mexican Health and Aging Study (MHAS), a nationally representative study of older Mexican adults (60+). Pain, measured at each wave, was categorized as high-impact chronic pain (pain that limits daily activities), low-impact chronic pain (pain that did not limit daily activities), and no chronic pain. Cognition was measured at …


Diet, Gut Microbiota, And Histidine Metabolism Toward Imidazole Propionate Production In Relation To Type 2 Diabetes, Hongbo Yang, Kai Luo, Brandilyn A Peters, Yi Wang, Yanbo Zhang, Martha Daviglus, Amber Pirzada, Christina Cordero, Bing Yu, Robert D Burk, Robert Kaplan, Qibin Qi Jul 2025

Diet, Gut Microbiota, And Histidine Metabolism Toward Imidazole Propionate Production In Relation To Type 2 Diabetes, Hongbo Yang, Kai Luo, Brandilyn A Peters, Yi Wang, Yanbo Zhang, Martha Daviglus, Amber Pirzada, Christina Cordero, Bing Yu, Robert D Burk, Robert Kaplan, Qibin Qi

Faculty, Staff and Student Publications

Objective: To examine associations of serum imidazole propionate (ImP), histidine, and their ratio with incident type 2 diabetes (T2D) and related dietary and gut microbial factors in U.S. Hispanic/Latino people.

Research design and methods: In the Hispanic Community Health Study/Study of Latinos, we evaluated serum ImP, histidine, and ImP-to-histidine ratio at baseline (2008-2011) and their cross-sectional associations with dietary intake and prospective associations with incident T2D over ∼12 years (n = 4,632). In a subsample with gut microbiota data during a follow-up visit (2016-2018), we examined gut microbial species associated with serum ImP and their potential interactions with dietary intake. …


Psychosocial Supports For The Physical And Mental Health Of Youth With Autism And Other Neurodevelopmental Disabilities., Melissa Campbell, Elizabeth Hastings, Paige Mcardle, Darren Olsen, Kathryn Benton, Cy Nadler Jul 2025

Psychosocial Supports For The Physical And Mental Health Of Youth With Autism And Other Neurodevelopmental Disabilities., Melissa Campbell, Elizabeth Hastings, Paige Mcardle, Darren Olsen, Kathryn Benton, Cy Nadler

Manuscripts, Articles, Book Chapters and Other Papers

One in six youth has a neurodevelopmental disability (NDD), and autism diagnostic rates continue to rise. Before and after a diagnosis, families need trusted sources of guidance to navigate co-occurring medical and psychological conditions, and to manage unique stressors including transition to adulthood. However, medical professionals from all specialty areas struggle to identify resources to support the complex psychosocial and healthcare needs of these patients and their families. This primer on psychosocial supports for youth with autism will explore the major mental and physical health stressors faced by affected youth and families, and discuss opportunities for primary care and other …


Constantly Connected: What Healthcare Providers Need To Know About Vicarious Trauma In An Evolving Digitally Connected Global Community., Meghan Kanya, Patricia Davis, Gail Robertson Jul 2025

Constantly Connected: What Healthcare Providers Need To Know About Vicarious Trauma In An Evolving Digitally Connected Global Community., Meghan Kanya, Patricia Davis, Gail Robertson

Manuscripts, Articles, Book Chapters and Other Papers

Easy access to streaming news and sensational headlines has transformed society's exposure to traumatic narratives. From personal stories on social media platforms to news articles about violence in communities, patients and their caregivers may not recognize their exposure as traumatic nor recognize their psychological sequalae as unhealthy. In addition, youth with trauma-related mental health symptoms are not consistently identified in pediatric primary care clinics. Due to the increase in proximity to traumatic stories, healthcare providers working with youth require additional skills designed to engage patients and families in conversations about exposure to violence via technology and symptoms of vicarious trauma. …