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2022

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Articles 2131 - 2160 of 6955

Full-Text Articles in Medical Specialties

Virtual Global Health In Graduate Medical Education: A Systematic Review, Lisa Umphrey, Nora Lenhard, Suet Kam Lam, Nathaniel E Hayward, Shaina Hecht, Priya Agrawal, Amy Chambliss, Jessica Evert, Heather Haq, Stephanie M Lauden, George Paasi, Mary Schleicher, Megan Song Mchenry Aug 2022

Virtual Global Health In Graduate Medical Education: A Systematic Review, Lisa Umphrey, Nora Lenhard, Suet Kam Lam, Nathaniel E Hayward, Shaina Hecht, Priya Agrawal, Amy Chambliss, Jessica Evert, Heather Haq, Stephanie M Lauden, George Paasi, Mary Schleicher, Megan Song Mchenry

Faculty, Staff and Students Publications

OBJECTIVES: To synthesize recent virtual global health education activities for graduate medical trainees, document gaps in the literature, suggest future study, and inform best practice recommendations for global health educators.

METHODS: We systematically reviewed articles published on virtual global health education activities from 2012-2021 by searching MEDLINE, EMBASE, Cochrane Library, ERIC, Scopus, Web of Science, and ProQuest Dissertations & Theses A&I. We performed bibliography review and search of conference and organization websites. We included articles about primarily virtual activities targeting for health professional trainees. We collected and qualitatively analyzed descriptive data about activity type, evaluation, audience, and drivers or barriers. …


Covid-19 Newsletter (Vol. 134), Center For Disaster Medicine, New York Medical College Aug 2022

Covid-19 Newsletter (Vol. 134), Center For Disaster Medicine, New York Medical College

COVID-19 Newsletter

No abstract provided.


Prevalence, Distribution, And Histopathological Features Of Malignant Tumors Reported At Tertiary Level In Afghanistan: A 3-Year Study, Haider Ali Malakzai, Ahmed Maseh Haidary, Saleema A. Gulzar, Mujtaba Haidari, Abdul Sami Ibrahimkhil, Ramin Saadaat, Ahmadullah Hakimi, Sayed Murtaza Sadat Hofiani, Soma Rahmani, Jamshid Abdul Ghafar Aug 2022

Prevalence, Distribution, And Histopathological Features Of Malignant Tumors Reported At Tertiary Level In Afghanistan: A 3-Year Study, Haider Ali Malakzai, Ahmed Maseh Haidary, Saleema A. Gulzar, Mujtaba Haidari, Abdul Sami Ibrahimkhil, Ramin Saadaat, Ahmadullah Hakimi, Sayed Murtaza Sadat Hofiani, Soma Rahmani, Jamshid Abdul Ghafar

School of Nursing & Midwifery

Purpose: Cancer is one of the leading causes of mortality and morbidity, and therefore, tremendous research work is continuously being done around the world with consideration of etiopathogenesis as well as identification of therapeutic targets. Decades of continuous war in Afghanistan has left the medical infrastructure of the country in a miserable situation. There is a serious deficiency in research work in the fields of pathology and oncology at the moment with minimal data available to elaborate about the demographic characteristics of various malignant disorders in the country, which would be indispensable to pave the way for further research and …


Comparative Risks Of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease, Ellen S Regalado, Shaine A Morris, Alan C Braverman, Ellen M Hostetler, Julie De Backer, Ruosha Li, Reed E Pyeritz, Anji T Yetman, Elena Cervi, Sherene Shalhub, Richmond Jeremy, Scott Lemaire, Maral Ouzounian, Arturo Evangelista, Catherine Boileau, Guillaume Jondeau, Dianna M Milewicz Aug 2022

Comparative Risks Of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease, Ellen S Regalado, Shaine A Morris, Alan C Braverman, Ellen M Hostetler, Julie De Backer, Ruosha Li, Reed E Pyeritz, Anji T Yetman, Elena Cervi, Sherene Shalhub, Richmond Jeremy, Scott Lemaire, Maral Ouzounian, Arturo Evangelista, Catherine Boileau, Guillaume Jondeau, Dianna M Milewicz

Faculty, Staff and Student Publications

BACKGROUND: Pathogenic variants in 11 genes predispose individuals to heritable thoracic aortic disease (HTAD), but limited data are available to stratify the risk for aortic events associated with these genes.

OBJECTIVES: This study sought to compare the risk of first aortic event, specifically thoracic aortic aneurysm surgery or an aortic dissection, among 7 HTAD genes and variant types within each gene.

METHODS: A retrospective cohort of probands and relatives with rare variants in 7 genes for HTAD (n = 1,028) was assessed for the risk of first aortic events based on the gene altered, pathogenic variant type, sex, proband status, …


Association Between Fall History And Gait, Balance, Physical Activity, Depression, Fear Of Falling, And Motor Capacity: A 6-Month Follow-Up Study, Catherine Park, Md Moin Uddin Atique, Ramkinker Mishra, Bijan Najafi Aug 2022

Association Between Fall History And Gait, Balance, Physical Activity, Depression, Fear Of Falling, And Motor Capacity: A 6-Month Follow-Up Study, Catherine Park, Md Moin Uddin Atique, Ramkinker Mishra, Bijan Najafi

Center on Aging Staff Publications

Maintaining function in older adults is key to the quality of life and longevity. This study examined the potential impact of falls on accelerating further deterioration over time in gait, balance, physical activity, depression, fear of falling, and motor capacity in older adults. 163 ambulatory older adults (age = 76.5 ± 7.7 years) participated and were followed for 6 months. They were classified into fallers or non-fallers based on a history of falling within the past year. At baseline and 6 months, all participants were objectively assessed for gait, balance, and physical activity using wearable sensors. Additional assessments included psychosocial …


Polymorphism & Parasites: Structure, Diversity And Selection Of The Mhcii Genes In A Weakly Electric Fish, Brachyhypopomus Occidentalis, Bruna L. Silva Aug 2022

Polymorphism & Parasites: Structure, Diversity And Selection Of The Mhcii Genes In A Weakly Electric Fish, Brachyhypopomus Occidentalis, Bruna L. Silva

Graduate Masters Theses

The major histocompatibility complex (MHC) class II molecules play a key role in inducing an immune response, by presenting foreign peptides to T-lymphocytes. They are considered one of the most polymorphic genes in the vertebrate genome and diversity has been associated with species diversification mediated by parasite, viral and bacterial infections. While MHC genes are well documented in teleost fish, none thus far have been described in the Gymnotiform order – a highly diverse group of neotropical electric fishes. Using a combination of a recently annotated genome and whole genome resequencing data, I identified and characterized both the classical MHCII …


Contributions Of Circulating Micrornas For Early Detection Of Lung Cancer, Jody Vykoukal, Johannes F Fahrmann, Nikul Patel, Masayoshi Shimizu, Edwin J Ostrin, Jennifer B Dennison, Cristina Ivan, Gary E Goodman, Mark D Thornquist, Matt J Barnett, Ziding Feng, George A Calin, Samir M Hanash Aug 2022

Contributions Of Circulating Micrornas For Early Detection Of Lung Cancer, Jody Vykoukal, Johannes F Fahrmann, Nikul Patel, Masayoshi Shimizu, Edwin J Ostrin, Jennifer B Dennison, Cristina Ivan, Gary E Goodman, Mark D Thornquist, Matt J Barnett, Ziding Feng, George A Calin, Samir M Hanash

Faculty, Staff and Student Publications

There is unmet need to develop circulating biomarkers that would enable earlier interception of lung cancer when more effective treatment options are available. Here, a set of 30 miRNAs, selected from a review of the published literature were assessed for their predictive performance in identifying lung cancer cases in the pre-diagnostic setting. The 30 miRNAs were assayed using sera collected from 102 individuals diagnosed with lung cancer within one year following blood draw and 212 controls matched for age, sex, and smoking status. The additive performance of top-performing miRNA candidates in combination with a previously validated four-protein marker panel (4MP) …


Molecular Analysis Of Short- Versus Long-Term Survivors Of High-Grade Serous Ovarian Carcinoma, Elaine Stur, Emine Bayraktar, Graziela Zibetti Dal Molin, Sherry Y Wu, Lingegowda S Mangala, Hui Yao, Ying Wang, Prahlad T Ram, Sara Corvigno, Hu Chen, Han Liang, Shelley S Tworoger, Douglas A Levine, Susan K Lutgendorf, Jinsong Liu, Kathleen N Moore, Keith A Baggerly, Beth Y Karlan, Anil K Sood Aug 2022

Molecular Analysis Of Short- Versus Long-Term Survivors Of High-Grade Serous Ovarian Carcinoma, Elaine Stur, Emine Bayraktar, Graziela Zibetti Dal Molin, Sherry Y Wu, Lingegowda S Mangala, Hui Yao, Ying Wang, Prahlad T Ram, Sara Corvigno, Hu Chen, Han Liang, Shelley S Tworoger, Douglas A Levine, Susan K Lutgendorf, Jinsong Liu, Kathleen N Moore, Keith A Baggerly, Beth Y Karlan, Anil K Sood

Faculty, Staff and Student Publications

Despite having similar histologic features, patients with high-grade serous ovarian carcinoma (HGSC) often experience highly variable outcomes. The underlying determinants for long-term survival (LTS, ≥10 years) versus short-term survival (STS, < 3 years) are largely unknown. The present study sought to identify molecular predictors of LTS for women with HGSC. A cohort of 24 frozen HGSC samples was collected (12 LTS and 12 STS) and analyzed at DNA, RNA, and protein levels. OVCAR5 and OVCAR8 cell lines were used for in vitro validation studies. For in vivo studies, we injected OVCAR8 cells into the peritoneal cavity of female athymic nude mice. From RNAseq analysis, 11 genes were found to be differentially expressed between the STS and LTS groups (fold change > 2; false discovery rate < 0.01). In the subsequent validation cohort, transmembrane protein 62 (TMEM62) was found to be related to LTS. CIBERSORT analysis showed that T cells (follicular helper) were found at higher levels in tumors from LTS than STS groups. In vitro data using OVCAR5 and OVCAR8 cells showed decreased proliferation with TMEM62 overexpression and positive correlation with a longevity-regulating pathway (KEGG HSA04213) at the RNA level. In vivo analysis using the OVCAR8-TMEM62-TetON model showed decreased tumor burden in mice with high- vs. low-expressing TMEM62 tumors. Our results demonstrate that restoring TMEM62 may be a novel approach for treatment of HGSC. These findings may have implications for biomarker and intervention strategies to help improve patient outcomes


Fiber Bragg Grating Array For Shape Reconstruction In Structural Elements, Edson A Souza, Leandro C Macedo, Anselmo Frizera, Carlos Marques, Arnaldo Leal-Junior Aug 2022

Fiber Bragg Grating Array For Shape Reconstruction In Structural Elements, Edson A Souza, Leandro C Macedo, Anselmo Frizera, Carlos Marques, Arnaldo Leal-Junior

Faculty, Staff and Student Publications

This paper presents the development, analysis and application of a fiber Bragg grating (FBG) array for two-dimensional (2D) shape reconstruction in a cantilever beam. The structural elements made of Pinus wood and Nylon 6.0 were numerically analyzed using the finite element method for the strain distribution when constant loading is applied at the free end of the beam. In addition, the temperature compensation method is proposed to decouple the temperature cross-sensitivity in the deflection analysis. In this case, the temperature sensitivities of all sensing elements of the 5-FBG array were obtained. An additional FBG was encapsulated in a silicone mold …


Integrated Relationship Of Nasopharyngeal Airway Host Response And Microbiome Associates With Bronchiolitis Severity, Michimasa Fujiogi, Yoshihiko Raita, Marcos Pérez-Losada, Robert J Freishtat, Juan C Celedón, Jonathan M Mansbach, Pedro A Piedra, Zhaozhong Zhu, Carlos A Camargo, Kohei Hasegawa Aug 2022

Integrated Relationship Of Nasopharyngeal Airway Host Response And Microbiome Associates With Bronchiolitis Severity, Michimasa Fujiogi, Yoshihiko Raita, Marcos Pérez-Losada, Robert J Freishtat, Juan C Celedón, Jonathan M Mansbach, Pedro A Piedra, Zhaozhong Zhu, Carlos A Camargo, Kohei Hasegawa

Faculty, Staff and Students Publications

Bronchiolitis is a leading cause of infant hospitalizations but its immunopathology remains poorly understood. Here we present data from 244 infants hospitalized with bronchiolitis in a multicenter prospective study, assessing the host response (transcriptome), microbial composition, and microbial function (metatranscriptome) in the nasopharyngeal airway, and associate them with disease severity. We investigate individual associations with disease severity identify host response, microbial taxonomical, and microbial functional modules by network analyses. We also determine the integrated relationship of these modules with severity. Several modules are significantly associated with risks of positive pressure ventilation use, including the host-type I interferon, neutrophil/interleukin-1, T cell …


A Scoping Review Protocol To Elucidate Outcomes Following Abiraterone Versus Enzalutamide For Prostate Cancer, Yash B Shah, Amy L Shaver, William Kevin Kelly, Grace Lu-Yao Aug 2022

A Scoping Review Protocol To Elucidate Outcomes Following Abiraterone Versus Enzalutamide For Prostate Cancer, Yash B Shah, Amy L Shaver, William Kevin Kelly, Grace Lu-Yao

Department of Medical Oncology Faculty Papers

INTRODUCTION: Abiraterone acetate and enzalutamide are commonly employed in prostate cancer therapy in an interchangeable manner. These drugs are highly efficacious in androgen antagonism to improve patient outcomes, but they also carry noteworthy risk of adverse effects. Common toxicities vary amongst the two drugs and may have differential interactions with patient co-morbidities, but these patterns are unclear as co-morbidities typically serve as exclusion criteria in clinical trials. Hence, there is no existing guidance on how clinicians may tailor treatment based on patient-specific factors. Analysis of differential patient outcomes between these two drugs can inform future systematic reviews, new clinical studies, …


Comorbidity Of Novel Crhr2 Gene Variants In Type 2 Diabetes And Depression, Mutaz Amin, Jurg Ott, Derek Gordon, Rongling Wu, Teodor T Postolache, Michael Vergare, Claudia Gragnoli Aug 2022

Comorbidity Of Novel Crhr2 Gene Variants In Type 2 Diabetes And Depression, Mutaz Amin, Jurg Ott, Derek Gordon, Rongling Wu, Teodor T Postolache, Michael Vergare, Claudia Gragnoli

Department of Psychiatry and Human Behavior Faculty Papers

The corticotropin-releasing hormone receptor 2 (CRHR2) gene encodes CRHR2, contributing to the hypothalamic-pituitary-adrenal stress response and to hyperglycemia and insulin resistance. CRHR2-/- mice are hypersensitive to stress, and the CRHR2 locus has been linked to type 2 diabetes and depression. While CRHR2 variants confer risk for mood disorders, MDD, and type 2 diabetes, they have not been investigated in familial T2D and MDD. In 212 Italian families with type 2 diabetes and depression, we tested 17 CRHR2 single nucleotide polymorphisms (SNPs), using two-point parametric-linkage and linkage-disequilibrium (i.e., association) analysis (models: dominant-complete-penetrance-D1, dominant-incomplete-penetrance-D2, recessive-complete-penetrance-R1, recessive-incomplete-penetrance-R2). We detected novel linkage/linkage-disequilibrium/association …


Are Women With Disabilities Less Likely To Utilize Essential Maternal And Reproductive Health Services?-A Secondary Analysis Of Pakistan Demographic Health Survey, Shafaq Mahmood, Waqas Hameed, Sameen Siddiqi Aug 2022

Are Women With Disabilities Less Likely To Utilize Essential Maternal And Reproductive Health Services?-A Secondary Analysis Of Pakistan Demographic Health Survey, Shafaq Mahmood, Waqas Hameed, Sameen Siddiqi

Community Health Sciences

Background: People with disabilities deal with widespread exclusion from healthcare services, including sexual and reproductive health (SRH) rights. Studies analyzing the relationship between disability and key SRH utilization outcomes have often reported mixed findings. In Pakistan, very little to no literature is available on this topic, therefore we aim to determine inequalities in the utilization of essential maternal and reproductive health services between women with and without disabilities in Pakistan.
Methods: This was a secondary analysis of Pakistan Demographic Health Survey 2017-18 performed on a weighted sample of 6,711 women aged 15-49 years with a live birth in the 5 …


Characteristics, Emotional Experience, And Impact Of Unplanned Out-Of-Hospital Births In The City Of Beit Shemesh, Israel, Allison Rosenbaum, Dm, Cnm, Mss Aug 2022

Characteristics, Emotional Experience, And Impact Of Unplanned Out-Of-Hospital Births In The City Of Beit Shemesh, Israel, Allison Rosenbaum, Dm, Cnm, Mss

Midwifery Thinks! Symposium

Allison Rosenbaum, CNM, MSS, DM has been living and practicing midwifery in Israel since 2002. She obtained a master’s degree in social work from the Bryn Mawr Graduate School of Social Work and Social Research in 1994, then went on to study nursing and midwifery at MGH School of Health Professionals and Philadelphia University’s Institute of Midwifery and Women’s Health (now Thomas Jefferson University), earning her Master of Science in 2018 and her Doctorate in Midwifery in 2022. Currently, she works at Assuta Medical Center in Ashdod, Israel, and is the director of their waterbirth program. She is also involved …


Make A Wish: Happy Birthday Bladder Candle, Alexander Geisenhoff, Mit Shah, Megan Schober Aug 2022

Make A Wish: Happy Birthday Bladder Candle, Alexander Geisenhoff, Mit Shah, Megan Schober

Website/Multimedia Contributions

No abstract provided.


Isopsa: Clinical Performance Of A Single Parameter, Structure Based Test For High Grade Prostate Cancer Unaffected By 5-Ari And A-Blocker Medications, Eric Klein, Alan Partin, Yair Lotan, Jack Baniel, Martin Dineen, Jason Hafron, Kannan Manickam, Marc Pliskin, Matthew Wagnet, Ao Zhang Aug 2022

Isopsa: Clinical Performance Of A Single Parameter, Structure Based Test For High Grade Prostate Cancer Unaffected By 5-Ari And A-Blocker Medications, Eric Klein, Alan Partin, Yair Lotan, Jack Baniel, Martin Dineen, Jason Hafron, Kannan Manickam, Marc Pliskin, Matthew Wagnet, Ao Zhang

Website/Multimedia Contributions

No abstract provided.


Successful Treatment Of Symptomatic Cystitis Glandularis Presenting As Bladder Mass, With Cox-2 Inhibitor: A Case Report, Bilal Muhammad, Kenneth Peters Aug 2022

Successful Treatment Of Symptomatic Cystitis Glandularis Presenting As Bladder Mass, With Cox-2 Inhibitor: A Case Report, Bilal Muhammad, Kenneth Peters

Website/Multimedia Contributions

No abstract provided.


Comparison Of Major Adverse Cardiovascular Events Risk With Androgen Deprivation Therapy By Personal History Of Cardiovascular Diseases Using Real World Data, Jason Hafron, Deborah Boldt-Houle, Stuart Atkinson Aug 2022

Comparison Of Major Adverse Cardiovascular Events Risk With Androgen Deprivation Therapy By Personal History Of Cardiovascular Diseases Using Real World Data, Jason Hafron, Deborah Boldt-Houle, Stuart Atkinson

Website/Multimedia Contributions

No abstract provided.


Healthy Exosomes And Their Effects On Diabetic Cardiomyocytes, Miguel A. Garza, Genaro A. Ramírez-Correa, Maria Lourdes Garza-Rodríguez, Andres J. Medina Aug 2022

Healthy Exosomes And Their Effects On Diabetic Cardiomyocytes, Miguel A. Garza, Genaro A. Ramírez-Correa, Maria Lourdes Garza-Rodríguez, Andres J. Medina

MEDI 9331 Scholarly Activities Clinical Years

Extracellular Vesicles, and more specifically, exosomes, are essential for effective cell-to-cell communication in a wide variety of tissues. In the last couple of decades, these nanovesicles have been proven to be active participants and regulators in many disease processes; therefore, their therapeutic effects have been widely studied and proven in various cardiovascular diseases both, in vitro and in vivo. Thus, this study aims at assessing the effects of running healthy mice exosomes on cardiomyocyte and cardiac tissue samples obtained from diabetic mice. Here, we successfully extract exosomes from mice plasma and detect their presence through the use of anti-CD9 and …


Somatic Variants In Diverse Genes Leads To A Spectrum Of Focal Cortical Malformations, Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lu, Nicole M Walley, Anne F Buckley, Tristan T Sands, Cigdem I Akman, Mohamad A Mikati, Guy M Mckhann, James E Goldman, Peter Canoll, Allyson L Alexander, Kristen L Park, Gretchen K Von Allmen, Olga Rodziyevska, Meenakshi B Bhattacharjee, Hart G W Lidov, Hannes Vogel, Gerald A Grant, Brenda E Porter, Annapurna H Poduri, Peter B Crino, Erin L Heinzen Aug 2022

Somatic Variants In Diverse Genes Leads To A Spectrum Of Focal Cortical Malformations, Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lu, Nicole M Walley, Anne F Buckley, Tristan T Sands, Cigdem I Akman, Mohamad A Mikati, Guy M Mckhann, James E Goldman, Peter Canoll, Allyson L Alexander, Kristen L Park, Gretchen K Von Allmen, Olga Rodziyevska, Meenakshi B Bhattacharjee, Hart G W Lidov, Hannes Vogel, Gerald A Grant, Brenda E Porter, Annapurna H Poduri, Peter B Crino, Erin L Heinzen

Faculty, Staff and Student Publications

Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants have been identified in many genes within the PI3K-AKT-mTOR-signalling pathway in individuals with hemimegalencephaly and focal cortical dysplasia (type II), and more recently in SLC35A2 in individuals with focal cortical dysplasia (type I) or non-dysplastic epileptic cortex. Given the expanding role of somatic variants across different brain malformations, we sought to delineate the landscape of somatic variants in a large cohort of patients who underwent epilepsy surgery with hemimegalencephaly …


Phenotypic And Genetic Spectrum Of Atp6v1a Encephalopathy: A Disorder Of Lysosomal Homeostasis, Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly Mcdonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance Rodan, Rima Nabbout, Giulia Barcia, Jill A Rosenfeld, Carlos A Bacino, Cyril Mignot, Lillian H Power, Catharine J Harris, Dragan Marjanovic, Rikke S Møller, Trine B Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine De Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo La Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio Aug 2022

Phenotypic And Genetic Spectrum Of Atp6v1a Encephalopathy: A Disorder Of Lysosomal Homeostasis, Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly Mcdonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance Rodan, Rima Nabbout, Giulia Barcia, Jill A Rosenfeld, Carlos A Bacino, Cyril Mignot, Lillian H Power, Catharine J Harris, Dragan Marjanovic, Rikke S Møller, Trine B Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine De Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo La Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio

Faculty, Staff and Student Publications

Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and intracellular signalling pathways. In humans, 22 autosomal genes encode for a redundant set of subunits allowing the composition of diverse V-ATPase complexes with specific properties and expression. Sixteen subunits have been linked to human disease. Here we describe 26 patients harbouring 20 distinct pathogenic de novo missense ATP6V1A variants, mainly clustering within the ATP synthase α/β family-nucleotide-binding domain. At a mean age of 7 years (extremes: 6 weeks, youngest deceased …


Disease Burden In Patients With Acute Hepatic Porphyria: Experience From The Phase 3 Envision Study, Bruce Wang, Paolo Ventura, Kei-Ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T Sweetser, Manisha Balwani Aug 2022

Disease Burden In Patients With Acute Hepatic Porphyria: Experience From The Phase 3 Envision Study, Bruce Wang, Paolo Ventura, Kei-Ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T Sweetser, Manisha Balwani

Division of Gastroenterology and Hepatology Faculty Papers

BACKGROUND: Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme. Resultant overproduction of the neurotoxic intermediates δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) leads to disabling acute neurovisceral attacks and progressive neuropathy. We evaluated the AHP disease burden in patients aged ≥ 12 years in a post hoc analysis of the Phase 3, randomized, double-blind, placebo-controlled ENVISION trial of givosiran (NCT03338816), an RNA interference (RNAi) therapeutic that targets the enzyme ALAS1 to decrease ALA and PBG production. We analyzed baseline AHP severity via chronic symptoms between attacks, comorbidities, concomitant …


Bone Marrow Endothelial Cells Increase Prostate Cancer Cell Apoptosis In 3d Triculture Model Of Reactive Stroma, Lindsey K Sablatura, Tristen V Tellman, Aemin Kim, Mary C Farach-Carson Aug 2022

Bone Marrow Endothelial Cells Increase Prostate Cancer Cell Apoptosis In 3d Triculture Model Of Reactive Stroma, Lindsey K Sablatura, Tristen V Tellman, Aemin Kim, Mary C Farach-Carson

Faculty, Staff and Student Publications

The bone marrow tumor microenvironment (BMTE) is a complex network of cells, extracellular matrix, and sequestered signaling factors that initially act as a hostile environment for disseminating tumor cells (DTCs) from the cancerous prostate. Three-dimensional (3D) culture systems offer an opportunity to better model these complex interactions in reactive stroma, providing contextual behaviors for cancer cells, stromal cells, and endothelial cells. Using a new system designed for the triculture of osteoblastic prostate cancer (PCa) cells, stromal cells, and microvascular endothelial cells, we uncovered a context-specific pro-apoptotic effect of endothelial cells of the bone marrow different from those derived from the …


Location-Specific Psychosocial And Environmental Correlates Of Physical Activity And Sedentary Time In Young Adolescents: Preliminary Evidence For Location-Specific Approaches From A Cross-Sectional Observational Study., Adrian Ortega, Carolina M Bejarano, Christopher C Cushing, Vincent S. Staggs, Amy Papa, Chelsea Steel, Robin P. Shook, Terry L. Conway, Brian E. Saelens, Karen Glanz, Kelli L. Cain, Lawrence D. Frank, Jacqueline Kerr, Jasper Schipperijn, James F. Sallis, Jordan A. Carlson Aug 2022

Location-Specific Psychosocial And Environmental Correlates Of Physical Activity And Sedentary Time In Young Adolescents: Preliminary Evidence For Location-Specific Approaches From A Cross-Sectional Observational Study., Adrian Ortega, Carolina M Bejarano, Christopher C Cushing, Vincent S. Staggs, Amy Papa, Chelsea Steel, Robin P. Shook, Terry L. Conway, Brian E. Saelens, Karen Glanz, Kelli L. Cain, Lawrence D. Frank, Jacqueline Kerr, Jasper Schipperijn, James F. Sallis, Jordan A. Carlson

Manuscripts, Articles, Book Chapters and Other Papers

Background: A better understanding of the extent to which psychosocial and environmental correlates of physical activity are specific to locations would inform intervention optimization.

Purpose: To investigate cross-sectional associations of location-general and location-specific variables with physical activity and sedentary time in three common locations adolescents spend time.

Methods: Adolescents (N = 472,Mage = 14.1,SD = 1.5) wore an accelerometer and global positioning systems (GPS) tracker and self-reported on psychosocial (e.g., self-efficacy) and environmental (e.g., equipment) factors relevant to physical activity and sedentary time. We categorized each survey item based on whether it was specific to a location to generate psychosocial …


Chap-Child: An Open Source Method For Estimating Sit-To-Stand Transitions And Sedentary Bout Patterns From Hip Accelerometers Among Children., Jordan A. Carlson, Nicola D. Ridgers, Supun Nakandala, Rong Zablocki, Fatima Tuz-Zahra, John Bellettiere, Paul R Hibbing, Chelsea Steel, Marta M. Jankowska, Dori E. Rosenberg, Mikael Anne Greenwood-Hickman, Jingjing Zou, Andrea Z. Lacroix, Arun Kumar, Loki Natarajan Aug 2022

Chap-Child: An Open Source Method For Estimating Sit-To-Stand Transitions And Sedentary Bout Patterns From Hip Accelerometers Among Children., Jordan A. Carlson, Nicola D. Ridgers, Supun Nakandala, Rong Zablocki, Fatima Tuz-Zahra, John Bellettiere, Paul R Hibbing, Chelsea Steel, Marta M. Jankowska, Dori E. Rosenberg, Mikael Anne Greenwood-Hickman, Jingjing Zou, Andrea Z. Lacroix, Arun Kumar, Loki Natarajan

Manuscripts, Articles, Book Chapters and Other Papers

Background: Hip-worn accelerometer cut-points have poor validity for assessing children's sedentary time, which may partly explain the equivocal health associations shown in prior research. Improved processing/classification methods for these monitors would enrich the evidence base and inform the development of more effective public health guidelines. The present study aimed to develop and evaluate a novel computational method (CHAP-child) for classifying sedentary time from hip-worn accelerometer data.

Methods: Participants were 278, 8-11-year-olds recruited from nine primary schools in Melbourne, Australia with differing socioeconomic status. Participants concurrently wore a thigh-worn activPAL (ground truth) and hip-worn ActiGraph (test measure) during up to 4 …


Cancer-Driving Mutations Are Enriched In Genic Regions Intolerant To Germline Variation, Dimitrios Vitsios, Ryan S Dhindsa, Dorota Matelska, Jonathan Mitchell, Xuequing Zou, Joshua Armenia, Fengyuan Hu, Quanli Wang, Ben Sidders, Andrew R Harper, Slavé Petrovski Aug 2022

Cancer-Driving Mutations Are Enriched In Genic Regions Intolerant To Germline Variation, Dimitrios Vitsios, Ryan S Dhindsa, Dorota Matelska, Jonathan Mitchell, Xuequing Zou, Joshua Armenia, Fengyuan Hu, Quanli Wang, Ben Sidders, Andrew R Harper, Slavé Petrovski

Duncan NRI Faculty and Staff Publications

Large reference datasets of protein-coding variation in human populations have allowed us to determine which genes and genic subregions are intolerant to germline genetic variation. There is also a growing number of genes implicated in severe Mendelian diseases that overlap with genes implicated in cancer. We hypothesized that cancer-driving mutations might be enriched in genic subregions that are depleted of germline variation relative to somatic variation. We introduce a new metric, OncMTR (oncology missense tolerance ratio), which uses 125,748 exomes in the Genome Aggregation Database (gnomAD) to identify these genic subregions. We demonstrate that OncMTR can significantly predict driver mutations …


Understanding The Feelings And Experiences Of Patients With Periodontal Disease: A Qualitative Meta-Synthesis, Jun Yin, Yan Li, Mingyu Feng, Li Li Aug 2022

Understanding The Feelings And Experiences Of Patients With Periodontal Disease: A Qualitative Meta-Synthesis, Jun Yin, Yan Li, Mingyu Feng, Li Li

Faculty, Staff and Student Publications

BACKGROUND: Patients' experiences, feelings, and perceptions play key roles in quality of life and dental care quality, but they are poorly understood in periodontal disease. Therefore, this meta-synthesis aimed to gain deep insights into the feelings, experiences, and perceptions of people living with periodontal disease.

METHODS: Electronic database searches in PubMed, Cochrane Library, EMBASE, Scopus, Web of Science, PsycINFO, CINAHL, and Open AIRE were conducted up to December 2021 (updated in June 2022). The JBI Critical Appraisal Tool was used for quality assessment. Then reviewers integrated findings from qualitative studies with a thematic synthesis approach.

RESULTS: A total of 567 …


A Patient With Erdheim-Chester Disease Limited To Central Nervous System, Rajesh K Gupta, Anam Haque, Thejasvi A Reddy, Carlos A Pérez Aug 2022

A Patient With Erdheim-Chester Disease Limited To Central Nervous System, Rajesh K Gupta, Anam Haque, Thejasvi A Reddy, Carlos A Pérez

Faculty, Staff and Student Publications

Erdheim-Chester disease (ECD) is a rare, sporadic, non-Langerhans cell histiocytosis, a multisystem disorder, which has higher mortality when presented with CNS involvement. We report a 46-year-old woman who has ECD with exclusive CNS involvement. She presented with intracranial hemorrhage and had a poor response to corticosteroid and interferon. She required multiple debulking procedures and eventually responded well to cobimetinib. She has not had any other organ involvement thus far. This report highlights that CNS involvement may be the only manifestation of ECD and sometimes may require a repeat biopsy with IHC testing for excellent treatment outcomes.


Rna Binding Protein Rbm46 Regulates Mitotic-To-Meiotic Transition In Spermatogenesis, Baomei Qian, Yang Li, Ruoyu Yan, Shenglin Han, Zhiwen Bu, Jie Gong, Bangjin Zheng, Zihan Yuan, Sen Ren, Qing He, Jinwen Zhang, Chen Xu, Ruilin Wang, Zheng Sun, Mingyan Lin, Jian Zhou, Lan Ye Aug 2022

Rna Binding Protein Rbm46 Regulates Mitotic-To-Meiotic Transition In Spermatogenesis, Baomei Qian, Yang Li, Ruoyu Yan, Shenglin Han, Zhiwen Bu, Jie Gong, Bangjin Zheng, Zihan Yuan, Sen Ren, Qing He, Jinwen Zhang, Chen Xu, Ruilin Wang, Zheng Sun, Mingyan Lin, Jian Zhou, Lan Ye

Faculty, Staff and Students Publications

Meiosis entry during spermatogenesis requires reprogramming from mitotic to meiotic gene expression profiles. Transcriptional regulation has been extensively studied in meiosis entry, but gain of function for master transcription factors is insufficient to down-regulate mitotic genes. RNA helicase YTHDC2 and its partner MEIOC emerge as essential posttranscriptional regulators of meiotic entry. However, it is unclear what governs the RNA binding specificity of YTHDC2/MEIOC. Here, we identified RNA binding protein RBM46 as a component of the YTHDC2/MEIOC complex. Testis-specific Rbm46 knockout in mice causes infertility with defective mitotic-to-meiotic transition, phenocopying global Ythdc2 or Meioc knockout. RBM46 binds to 3′ UTR of …


Efficacy Of Various Interventions For Achieving Target Hba1c Levels For Patients With Type Ii Diabetes Mellitus And On Exogenous Insulin, Caitlin S. Welch, Archie Troxel Aug 2022

Efficacy Of Various Interventions For Achieving Target Hba1c Levels For Patients With Type Ii Diabetes Mellitus And On Exogenous Insulin, Caitlin S. Welch, Archie Troxel

Longitudinal Scholar's Project

Objective: To learn the rates at which patients at UT Family Medicine–St. Francis (UTFM–SF) with type II diabetes mellitus are being prescribed recommended medications—namely metformin, sodium-glucose cotransporter 2 (SGLT2) inhibitors, and glucagon-like peptide 1 receptor agonists (GLP1RAs)—whether these rates correspond to the severity of hyperglycemia (as indicated by HbA1C level). A secondary goal of the study was to investigate if HbA1C levels are being checked at recommended intervals.

Methods: A retrospective chart review was conducted using records of patients seen at the clinic in the previous four years between the ages of 18 and 65 who had visits with ICD …