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2024

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Articles 19741 - 19770 of 27212

Full-Text Articles in Medicine and Health Sciences

Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, Massimo Busin, Tero T. Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken K. Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth R. Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis L. Munier, Tim Berger, Walter Lisch Feb 2024

Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, Massimo Busin, Tero T. Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken K. Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth R. Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis L. Munier, Tim Berger, Walter Lisch

School of Medicine Faculty Publications

PURPOSE: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature. METHODS: Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)]. RESULTS: Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( …


Molecular-Guided Therapy For The Treatment Of Patients With Relapsed And Refractory Childhood Cancers: A Beat Childhood Cancer Research Consortium Trial., Giselle L Saulnier Sholler, Genevieve Bergendahl, Elizabeth C. Lewis, Jacqueline Kraveka, William Ferguson, Abhinav B. Nagulapally, Karl Dykema, Valerie I Brown, Michael S. Isakoff, Joseph Junewick, Deanna Mitchell, Jawhar Rawwas, William Roberts, Don Eslin, Javier Oesterheld, Randal K. Wada, Devang Pastakia, Virginia Harrod, Kevin Ginn, Raya Saab, Kevin Bielamowicz, Jason Glover, Eugenia Chang, Gina K. Hanna, Daniel Enriquez, Tyler Izatt, Rebecca F Halperin, Abigail Moore, Sara A. Byron, William P D Hendricks, Jeffrey M. Trent Feb 2024

Molecular-Guided Therapy For The Treatment Of Patients With Relapsed And Refractory Childhood Cancers: A Beat Childhood Cancer Research Consortium Trial., Giselle L Saulnier Sholler, Genevieve Bergendahl, Elizabeth C. Lewis, Jacqueline Kraveka, William Ferguson, Abhinav B. Nagulapally, Karl Dykema, Valerie I Brown, Michael S. Isakoff, Joseph Junewick, Deanna Mitchell, Jawhar Rawwas, William Roberts, Don Eslin, Javier Oesterheld, Randal K. Wada, Devang Pastakia, Virginia Harrod, Kevin Ginn, Raya Saab, Kevin Bielamowicz, Jason Glover, Eugenia Chang, Gina K. Hanna, Daniel Enriquez, Tyler Izatt, Rebecca F Halperin, Abigail Moore, Sara A. Byron, William P D Hendricks, Jeffrey M. Trent

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Children with relapsed central nervous system (CNS tumors), neuroblastoma, sarcomas, and other rare solid tumors face poor outcomes. This prospective clinical trial examined the feasibility of combining genomic and transcriptomic profiling of tumor samples with a molecular tumor board (MTB) approach to make real‑time treatment decisions for children with relapsed/refractory solid tumors.

METHODS: Subjects were divided into three strata: stratum 1-relapsed/refractory neuroblastoma; stratum 2-relapsed/refractory CNS tumors; and stratum 3-relapsed/refractory rare solid tumors. Tumor samples were sent for tumor/normal whole-exome (WES) and tumor whole-transcriptome (WTS) sequencing, and the genomic data were used in a multi-institutional MTB to make real‑time treatment …


Flow Cytometry Of Dnmt1 As A Biomarker Of Hypomethylating Therapies, Philip G. Woost, Basem M. William, Brenda W. Cooper, Masumi Ueda Oshima, Folashade Otegbeye, Marcos J. De Lima, David Wald, Reda Z. Mahfouz, Yogen Saunthararajah, Tammy Stefan, James W. Jacobberger Feb 2024

Flow Cytometry Of Dnmt1 As A Biomarker Of Hypomethylating Therapies, Philip G. Woost, Basem M. William, Brenda W. Cooper, Masumi Ueda Oshima, Folashade Otegbeye, Marcos J. De Lima, David Wald, Reda Z. Mahfouz, Yogen Saunthararajah, Tammy Stefan, James W. Jacobberger

Faculty Scholarship

The 5-azacytidine (AZA) and decitabine (DEC) are noncytotoxic, differentiation-inducing therapies approved for treatment of myelodysplastic syndrome, acute myeloid leukemias (AML), and under evaluation as maintenance therapy for AML postallogeneic hematopoietic stem cell transplant and to treat hemoglobinapathies. Malignant cell cytoreduction is thought to occur by S-phase specific depletion of the key epigenetic regulator, DNA methyltransferase 1 (DNMT1) that, in the case of cancers, thereby releases terminal-differentiation programs. DNMT1-targeting can also elevate expression of immune function genes (HLA-DR, MICA, MICB) to stimulate graft versus leukemia effects. In vivo, there is a large inter-individual variability in DEC and 5-AZA activity because of …


The Lived Experience Of Nursing Faculty At Rural Community Colleges In East Texas During The Covid-19 Pandemic, Mary N. Isichei Feb 2024

The Lived Experience Of Nursing Faculty At Rural Community Colleges In East Texas During The Covid-19 Pandemic, Mary N. Isichei

Walden Dissertations and Doctoral Studies

The COVID-19 pandemic highlighted the need for public health (PH) emergency preparedness and for the formal training of frontline workers, primarily nurses, on how to manage PH emergencies. The need for the latter was especially evident at U.S. rural community colleges (RCC), a subset of institutions of higher education (IHEs), which, due to a lack of resources, lacked PH-trained nursing faculty members (NFMs). The purpose of this qualitative study was to discover the lived experience of NFMs in RCC in East Texas during the COVID-19 pandemic. The phenomenological theoretical (PT) framework assisted in understanding the lived experience of the NFMs …


Tumor- And Circulating-Free Dna Methylation Identifies Clinically Relevant Small Cell Lung Cancer Subtypes, Simon Heeke, Carl M Gay, Marcos R Estecio, Hai Tran, Benjamin B Morris, Bingnan Zhang, Ximing Tang, Maria Gabriela Raso, Pedro Rocha, Siqi Lai, Edurne Arriola, Paul Hofman, Veronique Hofman, Prasad Kopparapu, Christine M Lovly, Kyle Concannon, Luana Guimaraes De Sousa, Whitney Elisabeth Lewis, Kimie Kondo, Xin Hu, Azusa Tanimoto, Natalie I Vokes, Monique B Nilsson, Allison Stewart, Maarten Jansen, Ildikó Horváth, Mina Gaga, Vasileios Panagoulias, Yael Raviv, Danny Frumkin, Adam Wasserstrom, Aharona Shuali, Catherine A Schnabel, Yuanxin Xi, Lixia Diao, Qi Wang, Jianjun Zhang, Peter Van Loo, Jing Wang, Ignacio I Wistuba, Lauren A Byers, John V Heymach Feb 2024

Tumor- And Circulating-Free Dna Methylation Identifies Clinically Relevant Small Cell Lung Cancer Subtypes, Simon Heeke, Carl M Gay, Marcos R Estecio, Hai Tran, Benjamin B Morris, Bingnan Zhang, Ximing Tang, Maria Gabriela Raso, Pedro Rocha, Siqi Lai, Edurne Arriola, Paul Hofman, Veronique Hofman, Prasad Kopparapu, Christine M Lovly, Kyle Concannon, Luana Guimaraes De Sousa, Whitney Elisabeth Lewis, Kimie Kondo, Xin Hu, Azusa Tanimoto, Natalie I Vokes, Monique B Nilsson, Allison Stewart, Maarten Jansen, Ildikó Horváth, Mina Gaga, Vasileios Panagoulias, Yael Raviv, Danny Frumkin, Adam Wasserstrom, Aharona Shuali, Catherine A Schnabel, Yuanxin Xi, Lixia Diao, Qi Wang, Jianjun Zhang, Peter Van Loo, Jing Wang, Ignacio I Wistuba, Lauren A Byers, John V Heymach

Faculty, Staff and Student Publications

Small cell lung cancer (SCLC) is an aggressive malignancy composed of distinct transcriptional subtypes, but implementing subtyping in the clinic has remained challenging, particularly due to limited tissue availability. Given the known epigenetic regulation of critical SCLC transcriptional programs, we hypothesized that subtype-specific patterns of DNA methylation could be detected in tumor or blood from SCLC patients. Using genomic-wide reduced-representation bisulfite sequencing (RRBS) in two cohorts totaling 179 SCLC patients and using machine learning approaches, we report a highly accurate DNA methylation-based classifier (SCLC-DMC) that can distinguish SCLC subtypes. We further adjust the classifier for circulating-free DNA (cfDNA) to subtype …


Understanding The Role Of Palliative Care Within Routine Care Of Advanced Liver Disease, Simone A. Jarrett, Edward Bley, Richard S. Kalman Feb 2024

Understanding The Role Of Palliative Care Within Routine Care Of Advanced Liver Disease, Simone A. Jarrett, Edward Bley, Richard S. Kalman

Einstein Health Papers

Purpose of Review

This paper aims to investigate the crucial role of palliative care in the management of chronic liver disease (CLD) and cirrhosis. Faced with a global surge in liver-related morbidity and mortality, our goal is to understand the impact of early engagement with palliative care specialists on symptom management, quality of life, and the overall trajectory of advanced liver disease.

Recent Findings

While strides have been made in preventing and treating specific etiologies of CLD, such as viral infections, the escalating rates of alcohol use and obesity present new challenges for physicians. Despite advancements, liver transplantation unfortunately remains …


Probiotic Limosilactobacillus Reuteri Dsm 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia And Chronic Hepatitis In Mice, Erini Nessim Kostandy, Ji Ho Suh, Xiangjun Tian, Beanna Okeugo, Erin Rubin, Sara Shirai, Meng Luo, Christopher M. Taylor, Kang Ho Kim, J. Marc Rhoads, Yuying Liu Feb 2024

Probiotic Limosilactobacillus Reuteri Dsm 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia And Chronic Hepatitis In Mice, Erini Nessim Kostandy, Ji Ho Suh, Xiangjun Tian, Beanna Okeugo, Erin Rubin, Sara Shirai, Meng Luo, Christopher M. Taylor, Kang Ho Kim, J. Marc Rhoads, Yuying Liu

School of Medicine Faculty Publications

The probiotic Limosilactobacillus reuteri DSM 17938 produces anti-inflammatory effects in scurfy (SF) mice, a model characterized by immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (called IPEX syndrome in humans), caused by regulatory T cell (Treg) deficiency and is due to a Foxp3 gene mutation. Considering the pivotal role of lipids in autoimmune inflammatory processes, we investigated alterations in the relative abundance of lipid profiles in SF mice (± treatment with DSM 17938) compared to normal WT mice. We also examined the correlation between plasma lipids and gut microbiota and circulating inflammatory markers. We noted a significant upregulation of plasma lipids …


Intouch Week Of February 12, 2024, New York Medical College Feb 2024

Variations In Duration Of Clinical Follow-Up After Spinal Fusion For Adolescent Idiopathic Scoliosis: A Survey Of Posna And Srs Membership, Taylor R Johnson, Nicole A Segovia, Xochitl Bryson, Meghan N Imrie, John S Vorhies Feb 2024

Variations In Duration Of Clinical Follow-Up After Spinal Fusion For Adolescent Idiopathic Scoliosis: A Survey Of Posna And Srs Membership, Taylor R Johnson, Nicole A Segovia, Xochitl Bryson, Meghan N Imrie, John S Vorhies

Faculty, Staff and Student Publications

Background: There are currently no evidence-based guidelines addressing the optimal duration of follow-up after posterior spinal fusion (PSF) for adolescent idiopathic scoliosis (AIS). Despite the safety and efficacy of PSF for AIS, long-term complications exist, including infection, pseudoarthrosis, adjacent segment disease, deformity progression, persistent pain, and junctional deformities. In this study, we describe practice variation existing among surgeons regarding duration and intervals of patient follow-up after surgical treatment of AIS in addition to factors influencing provider recommendations for duration of radiographic and clinical follow-up. This investigation of practice variation is important, as opportunities exist for both limiting unnecessary radiation exposure, …


Probiotic Limosilactobacillus Reuteri Dsm 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia And Chronic Hepatitis In Mice, Erini Nessim Kostandy, Ji Ho Suh, Xiangjun Tian, Beanna Okeugo, Erin Rubin, Sara Shirai, Meng Luo, Christopher M Taylor, Kang Ho Kim, J Marc Rhoads, Yuying Liu Feb 2024

Probiotic Limosilactobacillus Reuteri Dsm 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia And Chronic Hepatitis In Mice, Erini Nessim Kostandy, Ji Ho Suh, Xiangjun Tian, Beanna Okeugo, Erin Rubin, Sara Shirai, Meng Luo, Christopher M Taylor, Kang Ho Kim, J Marc Rhoads, Yuying Liu

Faculty, Staff and Student Publications

The probiotic Limosilactobacillus reuteri DSM 17938 produces anti-inflammatory effects in scurfy (SF) mice, a model characterized by immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (called IPEX syndrome in humans), caused by regulatory T cell (Treg) deficiency and is due to a Foxp3 gene mutation. Considering the pivotal role of lipids in autoimmune inflammatory processes, we investigated alterations in the relative abundance of lipid profiles in SF mice (± treatment with DSM 17938) compared to normal WT mice. We also examined the correlation between plasma lipids and gut microbiota and circulating inflammatory markers. We noted a significant upregulation of plasma lipids …


Insights From The Histopathologic Analysis Of Acquired And Genetic Thoracic Aortic Aneurysms And Dissections, L Maximilian Buja, Bihong Zhao, Humaira Sadaf, Michelle Mcdonald, Ana M Segura, Li Li, Alana Cecchi, Siddharth K Prakash, Rana O Afifi, Charles C Miller, Anthony L Estrera, Dianna M Milewicz Feb 2024

Insights From The Histopathologic Analysis Of Acquired And Genetic Thoracic Aortic Aneurysms And Dissections, L Maximilian Buja, Bihong Zhao, Humaira Sadaf, Michelle Mcdonald, Ana M Segura, Li Li, Alana Cecchi, Siddharth K Prakash, Rana O Afifi, Charles C Miller, Anthony L Estrera, Dianna M Milewicz

Faculty, Staff and Student Publications

OBJECTIVE: The purpose of this study was to apply contemporary consensus criteria developed by the Society for Cardiovascular Pathology and the Association for European Cardiovascular Pathology to the evaluation of aortic pathology, with the expectation that the additional pathologic information may enhance the understanding and management of aortic diseases.

METHODS: A scoring system was applied to ascending aortic specimens from 42 patients with heritable thoracic aortic disease and known genetic variations and from 86 patients from a single year, including patients with known genetic variations (n = 12) and patients with sporadic disease (n = 74).

RESULTS: The various types …


Belzutifan, Hif-2Α Inhibitor, And Clear Cell Renal Cell Carcinoma With Somatic Von-Hippel-Lindau Loss-Of-Function Mutation, Kok Hoe Chan, Ningjing Li, Ran Lador, Mark Amsbaugh, Anneliese Gonzalez, Putao Cen Feb 2024

Belzutifan, Hif-2Α Inhibitor, And Clear Cell Renal Cell Carcinoma With Somatic Von-Hippel-Lindau Loss-Of-Function Mutation, Kok Hoe Chan, Ningjing Li, Ran Lador, Mark Amsbaugh, Anneliese Gonzalez, Putao Cen

Faculty, Staff and Student Publications

The Von-Hippel-Lindau (VHL) gene, acting as a tumor suppressor, plays a crucial role in the tumorigenesis of clear cell renal cell carcinoma (ccRCC). Approximately 90% of individuals with advanced ccRCC exhibit somatic mutations in the VHL gene. Belzutifan, orally administered small-molecule inhibitor of hypoxia-induced factor-2α, has demonstrated promising efficacy in solid tumors associated with germline loss-of-function mutations in VHL, including ccRCC. However, its impact on cases with somatic or sporadic VHL mutations remains unclear. Here, we present 2 cases where belzutifan monotherapy was employed in patients with advanced ccRCC and somatic loss-of-function mutations in VHL. Both patients exhibited a swift …


Probiotic Limosilactobacillus Reuteri Dsm 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia And Chronic Hepatitis In Mice, Erini Nessim Kostandy, Ji Ho Suh, Xiangjun Tian, Beanna Okeugo, Erin Rubin, Sara Shirai, Meng Luo, Christopher M Taylor, Kang Ho Kim, J Marc Rhoads, Yuying Liu Feb 2024

Probiotic Limosilactobacillus Reuteri Dsm 17938 Changes Foxp3 Deficiency-Induced Dyslipidemia And Chronic Hepatitis In Mice, Erini Nessim Kostandy, Ji Ho Suh, Xiangjun Tian, Beanna Okeugo, Erin Rubin, Sara Shirai, Meng Luo, Christopher M Taylor, Kang Ho Kim, J Marc Rhoads, Yuying Liu

Faculty, Staff and Student Publications

The probiotic Limosilactobacillus reuteri DSM 17938 produces anti-inflammatory effects in scurfy (SF) mice, a model characterized by immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (called IPEX syndrome in humans), caused by regulatory T cell (Treg) deficiency and is due to a Foxp3 gene mutation. Considering the pivotal role of lipids in autoimmune inflammatory processes, we investigated alterations in the relative abundance of lipid profiles in SF mice (± treatment with DSM 17938) compared to normal WT mice. We also examined the correlation between plasma lipids and gut microbiota and circulating inflammatory markers. We noted a significant upregulation of plasma lipids …


Efficacy Of Supplemental Ultrasound-Guided Pericapsular Nerve Group (Peng) Block Combined With Lateral Femoral Cutaneous Nerve Block In Patients Receiving Local Infiltration Analgesia After Hip Fracture Surgery: A Prospective Randomized Controlled Trial, Seung-Hee Yoo, Min-Jin Lee, Min-Hyouk Beak, Won-Joong Kim Feb 2024

Efficacy Of Supplemental Ultrasound-Guided Pericapsular Nerve Group (Peng) Block Combined With Lateral Femoral Cutaneous Nerve Block In Patients Receiving Local Infiltration Analgesia After Hip Fracture Surgery: A Prospective Randomized Controlled Trial, Seung-Hee Yoo, Min-Jin Lee, Min-Hyouk Beak, Won-Joong Kim

Faculty, Staff and Student Publications

No abstract provided.


Phase I Study Of Mtorc1/2 Inhibitor Sapanisertib (Cb-228/Tak-228) In Combination With Metformin In Patients With Mtor/Akt/Pi3k Pathway Alterations And Advanced Solid Malignancies, Vivek Subbiah, Niamh Coleman, Sarina A Piha-Paul, Apostolia M Tsimberidou, Filip Janku, Jordi Rodon, Shubham Pant, Ecaterina E Ileana Dumbrava, Siqing Fu, David S Hong, Shizhen Zhang, Ming Sun, Yunfang Jiang, Jason Roszik, Juhee Song, Ying Yuan, Funda Meric-Bernstam, Aung Naing Feb 2024

Phase I Study Of Mtorc1/2 Inhibitor Sapanisertib (Cb-228/Tak-228) In Combination With Metformin In Patients With Mtor/Akt/Pi3k Pathway Alterations And Advanced Solid Malignancies, Vivek Subbiah, Niamh Coleman, Sarina A Piha-Paul, Apostolia M Tsimberidou, Filip Janku, Jordi Rodon, Shubham Pant, Ecaterina E Ileana Dumbrava, Siqing Fu, David S Hong, Shizhen Zhang, Ming Sun, Yunfang Jiang, Jason Roszik, Juhee Song, Ying Yuan, Funda Meric-Bernstam, Aung Naing

Faculty, Staff and Student Publications

BACKGROUND: Sapanisertib (CB-228/TAK-228) is a potent, selective ATP-competitive, dual inhibitor of mTORC1/2. Metformin is thought to inhibit the mTOR pathway through upstream activation of 5'-AMP-activated protein kinase (AMPK) suggesting combination therapy may enhance antitumor activity of sapanisertib. We report preliminary safety, tolerability, and efficacy from the dose-escalation study of sapanisertib in combination with metformin in patients with advanced solid tumors.

METHODS: Patients with advanced metastatic solid tumors resistant or refractory to standard treatment, with and without mTOR/AKT/PI3K pathway alterations, received sapanisertib 3 or 4 mg daily together with metformin once to three times daily (500-1,500 mg). All patients underwent 14-day …


Cannula Placement For Cerebral Protection Without Circulatory Arrest In Patients Undergoing Hemiarch Aortic Aneurysm Repair, Joseph C Sweeney, Jaimin R Trivedi, Toyokazu Endo, Akhila Ankem, Siddharth V Pahwa, Mark S Slaughter, Brian L Ganzel Feb 2024

Cannula Placement For Cerebral Protection Without Circulatory Arrest In Patients Undergoing Hemiarch Aortic Aneurysm Repair, Joseph C Sweeney, Jaimin R Trivedi, Toyokazu Endo, Akhila Ankem, Siddharth V Pahwa, Mark S Slaughter, Brian L Ganzel

The Texas Heart Institute Journal

BACKGROUND: Aortic aneurysms involving the proximal aortic arch, which require hemiarch-type repair, typically require circulatory arrest with antegrade cerebral perfusion. Left carotid antegrade cerebral perfusion (LCP) via distal arch cannulation without circulatory arrest was used in this study's patient population. The goal was to assess the operative efficiency and clinical outcomes of using a distal arch cannulation technique that would not require any hypothermic circulatory arrest (HCA) time compared with more traditional brachiocephalic artery cannulation with right-sided unilateral antegrade cerebral perfusion (RCP) and HCA.

METHODS: A single-center retrospective review of patients with replacement of the distal ascending aorta involving the …


Specifying Cross-System Collaboration Strategies For Implementation: A Multi-Site Qualitative Study With Child Welfare And Behavioral Health Organizations, Alicia C Bunger, Emmeline Chuang, Amanda M Girth, Kathryn E Lancaster, Rebecca Smith, Rebecca J Phillips, Jared Martin, Fawn Gadel, Tina Willauer, Marla J Himmeger, Jennifer Millisor, Jen Mcclellan, Byron J Powell, Lisa Saldana, Gregory A Aarons Feb 2024

Specifying Cross-System Collaboration Strategies For Implementation: A Multi-Site Qualitative Study With Child Welfare And Behavioral Health Organizations, Alicia C Bunger, Emmeline Chuang, Amanda M Girth, Kathryn E Lancaster, Rebecca Smith, Rebecca J Phillips, Jared Martin, Fawn Gadel, Tina Willauer, Marla J Himmeger, Jennifer Millisor, Jen Mcclellan, Byron J Powell, Lisa Saldana, Gregory A Aarons

2020-Current year OA Pubs

BACKGROUND: Cross-system interventions that integrate health, behavioral health, and social services can improve client outcomes and expand community impact. Successful implementation of these interventions depends on the extent to which service partners can align frontline services and organizational operations. However, collaboration strategies linking multiple implementation contexts have received limited empirical attention. This study identifies, describes, and specifies multi-level collaboration strategies used during the implementation of Ohio Sobriety Treatment and Reducing Trauma (Ohio START), a cross-system intervention that integrates services across two systems (child welfare and evidence-based behavioral health services) for families that are affected by co-occurring child maltreatment and parental …


Circuit-Based Intervention Corrects Excessive Dentate Gyrus Output In The Fragile X Mouse Model, Pan-Yue Deng, Ajeet Kumar, Valeria Cavalli, Vitaly A Klyachko Feb 2024

Circuit-Based Intervention Corrects Excessive Dentate Gyrus Output In The Fragile X Mouse Model, Pan-Yue Deng, Ajeet Kumar, Valeria Cavalli, Vitaly A Klyachko

2020-Current year OA Pubs

Abnormal cellular and circuit excitability is believed to drive many core phenotypes in fragile X syndrome (FXS). The dentate gyrus is a brain area performing critical computations essential for learning and memory. However, little is known about dentate circuit defects and their mechanisms in FXS. Understanding dentate circuit dysfunction in FXS has been complicated by the presence of two types of excitatory neurons, the granule cells and mossy cells. Here we report that loss of FMRP markedly decreased excitability of dentate mossy cells, a change opposite to all other known excitability defects in excitatory neurons in FXS. This mossy cell …


Predicting Proximal Tubule Failed Repair Drivers Through Regularized Regression Analysis Of Single Cell Multiomic Sequencing, Nicolas Ledru, Parker C Wilson, Yoshiharu Muto, Yasuhiro Yoshimura, Haojia Wu, Dian Li, Amish Asthana, Stefan G Tullius, Sushrut S Waikar, Giuseppe Orlando, Benjamin D Humphreys Feb 2024

Predicting Proximal Tubule Failed Repair Drivers Through Regularized Regression Analysis Of Single Cell Multiomic Sequencing, Nicolas Ledru, Parker C Wilson, Yoshiharu Muto, Yasuhiro Yoshimura, Haojia Wu, Dian Li, Amish Asthana, Stefan G Tullius, Sushrut S Waikar, Giuseppe Orlando, Benjamin D Humphreys

2020-Current year OA Pubs

Renal proximal tubule epithelial cells have considerable intrinsic repair capacity following injury. However, a fraction of injured proximal tubule cells fails to undergo normal repair and assumes a proinflammatory and profibrotic phenotype that may promote fibrosis and chronic kidney disease. The healthy to failed repair change is marked by cell state-specific transcriptomic and epigenomic changes. Single nucleus joint RNA- and ATAC-seq sequencing offers an opportunity to study the gene regulatory networks underpinning these changes in order to identify key regulatory drivers. We develop a regularized regression approach to construct genome-wide parametric gene regulatory networks using multiomic datasets. We generate a …


Impact Of Smoking And Drinking Habits On Lipid Profiles In Diabetic And Non-Diabetic Individuals & Their Oral Implications, Dinraj Kulkarni Feb 2024

Impact Of Smoking And Drinking Habits On Lipid Profiles In Diabetic And Non-Diabetic Individuals & Their Oral Implications, Dinraj Kulkarni

Annual Research Symposium

The rising prevalence of lifestyle-related diseases, notably diabetes mellitus and cardiovascular diseases (CVD), underscores the importance of investigating modifiable risk factors such as smoking and alcohol consumption. These habits are known to influence lipid profiles, crucial indicators of cardiovascular health. Main aim of this study To investigate & evaluate the effect of smoking and drinking habits on lipid profiles of diabetic and non-diabetic individuals and their oral implications.


Assessment Of Social Vulnerability Impact In Care And Prognosis Of Sinonasal Cancers In The United States, Achilles A. Kanaris, David J. Fei-Zhang, Lily B. Fletcher, Stephanie S. Smith, Urjeet A. Patel, Jill N. D'Souza, Daniel C. Chelius, Anthony M. Sheyn, Jeffrey C. Rastatter Feb 2024

Assessment Of Social Vulnerability Impact In Care And Prognosis Of Sinonasal Cancers In The United States, Achilles A. Kanaris, David J. Fei-Zhang, Lily B. Fletcher, Stephanie S. Smith, Urjeet A. Patel, Jill N. D'Souza, Daniel C. Chelius, Anthony M. Sheyn, Jeffrey C. Rastatter

School of Medicine Faculty Publications

Key Points: Social determinants of health interactively influence sinonasal cancer care and prognosis. Housing-transportation and socioeconomic status showed the largest associations with disparities. The social vulnerability index can reveal the social determinants of sinonasal cancers.


Arid2 Mutations May Relay A Distinct Subset Of Cutaneous Melanoma Patients With Different Outcomes, Favour A Akinjiyan, George Nassief, Jordan Phillipps, Tolulope Adeyelu, Andrew Elliott, Farah Abdulla, Alice Y Zhou, George Souroullas, Kevin B Kim, Ari Vanderwalde, Soo J Park, George Ansstas Feb 2024

Arid2 Mutations May Relay A Distinct Subset Of Cutaneous Melanoma Patients With Different Outcomes, Favour A Akinjiyan, George Nassief, Jordan Phillipps, Tolulope Adeyelu, Andrew Elliott, Farah Abdulla, Alice Y Zhou, George Souroullas, Kevin B Kim, Ari Vanderwalde, Soo J Park, George Ansstas

2020-Current year OA Pubs

ARID genes encode subunits of SWI/SNF chromatin remodeling complexes and are frequently mutated in human cancers. We investigated the correlation between ARID mutations, molecular features, and clinical outcomes in melanoma patients. Cutaneous melanoma samples (n = 1577) were analyzed by next-generation sequencing. Samples were stratified by pathogenic/likely pathogenic mutation in ARID genes (ARID1A/2/1B/5B). PD-L1 expression was assessed using IHC (SP142; positive (+): ≥ 1%). Tumor mutation burden (TMB)-high was defined as ≥ 10 mutations/Mb. Transcriptomic signatures predictive of response to immune checkpoint inhibitors-interferon gamma and T-cell inflamed score were calculated. Real-world overall survival (OS) information was obtained from insurance claims …


Optimizing Internet Of Things Fog Computing: Through Lyapunov-Based Long Short-Term Memory Particle Swarm Optimization Algorithm For Energy Consumption Optimization, Sheng Pan, Chenbin Huang, Jiajia Fan, Zheyan Shi, Junjie Tong, Hui Wang Feb 2024

Optimizing Internet Of Things Fog Computing: Through Lyapunov-Based Long Short-Term Memory Particle Swarm Optimization Algorithm For Energy Consumption Optimization, Sheng Pan, Chenbin Huang, Jiajia Fan, Zheyan Shi, Junjie Tong, Hui Wang

Faculty, Staff and Student Publications

In the era of continuous development in Internet of Things (IoT) technology, smart services are penetrating various facets of societal life, leading to a growing demand for interconnected devices. Many contemporary devices are no longer mere data producers but also consumers of data. As a result, massive amounts of data are transmitted to the cloud, but the latency generated in edge-to-cloud communication is unacceptable for many tasks. In response to this, this paper introduces a novel contribution-a layered computing network built on the principles of fog computing, accompanied by a newly devised algorithm designed to optimize user tasks and allocate …


Thsd1 Suppresses Autophagy-Mediated Focal Adhesion Turnover By Modulating The Fak-Beclin 1 Pathway, Zhen Xu, Jiayi Lu, Song Gao, Yan-Ning Rui Feb 2024

Thsd1 Suppresses Autophagy-Mediated Focal Adhesion Turnover By Modulating The Fak-Beclin 1 Pathway, Zhen Xu, Jiayi Lu, Song Gao, Yan-Ning Rui

Faculty, Staff and Student Publications

Focal adhesions (FAs) play a crucial role in cell spreading and adhesion, and their autophagic degradation is an emerging area of interest. This study investigates the role of Thrombospondin Type 1 Domain-Containing Protein 1 (THSD1) in regulating autophagy and FA stability in brain endothelial cells, shedding light on its potential implications for cerebrovascular diseases. Our research reveals a physical interaction between THSD1 and FAs. Depletion of THSD1 significantly reduces FA numbers, impairing cell spreading and adhesion. The loss of THSD1 also induces autophagy independently of changes in mTOR and AMPK activation, implying that THSD1 primarily governs FA dynamics rather than …


Factors Associated With Early Mortality In Acute Type A Aortic Dissection—A Single-Centre Experience, Panagiotis Doukas, Nicola Dalibor, András Keszei, Jelle Frankort, Julia Krabbe, Rachad Zayat, Michael J Jacobs, Alexander Gombert, Payam Akhyari, Arash Mehdiani Feb 2024

Factors Associated With Early Mortality In Acute Type A Aortic Dissection—A Single-Centre Experience, Panagiotis Doukas, Nicola Dalibor, András Keszei, Jelle Frankort, Julia Krabbe, Rachad Zayat, Michael J Jacobs, Alexander Gombert, Payam Akhyari, Arash Mehdiani

Faculty, Staff and Student Publications

BACKGROUND: Acute aortic dissection type A (AADA) is a surgical emergency with relevant mortality and morbidity despite improvements in current management protocols. Identifying patients at risk of a fatal outcome and controlling the factors associated with mortality remain of paramount importance.

METHODS: In this retrospective observational study, we reviewed the medical records of 117 patients with AADA, who were referred to our centre and operated on between 2005 and 2021. Preoperative, intraoperative, and postoperative variables were analysed and tested for their correlation with in-hospital mortality.

RESULTS: The overall survival rate was 83%. Preoperatively, factors associated with mortality were age ( …


Matrin3 Mediates Differentiation Through Stabilizing Chromatin Loop-Domain Interactions And Yy1 Mediated Enhancer-Promoter Interactions, Tianxin Liu, Qian Zhu, Yan Kai, Trevor Bingham, Stacy Wang, Hye Ji Cha, Stuti Mehta, Thorsten M Schlaeger, Guo-Cheng Yuan, Stuart H Orkin Feb 2024

Matrin3 Mediates Differentiation Through Stabilizing Chromatin Loop-Domain Interactions And Yy1 Mediated Enhancer-Promoter Interactions, Tianxin Liu, Qian Zhu, Yan Kai, Trevor Bingham, Stacy Wang, Hye Ji Cha, Stuti Mehta, Thorsten M Schlaeger, Guo-Cheng Yuan, Stuart H Orkin

Faculty, Staff and Students Publications

Although emerging evidence indicates that alterations in proteins within nuclear compartments elicit changes in chromosomal architecture and differentiation, the underlying mechanisms are not well understood. Here we investigate the direct role of the abundant nuclear complex protein Matrin3 (Matr3) in chromatin architecture and development in the context of myogenesis. Using an acute targeted protein degradation platform (dTAG-Matr3), we reveal the dynamics of development-related chromatin reorganization. High-throughput chromosome conformation capture (Hi-C) experiments revealed substantial chromatin loop rearrangements soon after Matr3 depletion. Notably, YY1 binding was detected, accompanied by the emergence of novel YY1-mediated enhancer-promoter loops, which occurred concurrently with changes in …


In Vivo Dynamic Volumetric Imaging Of Mouse Testis And Epididymis With Optical Coherence Tomography†, Kohei Umezu, Guzel R Musina, Irina V Larina Feb 2024

In Vivo Dynamic Volumetric Imaging Of Mouse Testis And Epididymis With Optical Coherence Tomography†, Kohei Umezu, Guzel R Musina, Irina V Larina

Faculty, Staff and Students Publications

The implementation of live imaging in reproductive research is crucial for studying the physiological dynamics. Sperm transport is a highly dynamic process regulated by tubular contractions and luminal flows within the male reproductive tract. However, due to the lack of imaging techniques to capture these dynamics in vivo, there is little information on the physiological and biomechanical regulation of sperm transport through the male reproductive tract. Here, we present a functional in vivo imaging approach using optical coherence tomography, enabling live, label-free, depth-resolved, three-dimensional, high-resolution visualization of the mouse testis and epididymis. With this approach, we spatiotemporally captured tubular contractility …


Mesoscopic Calcium Imaging In A Head-Unrestrained Male Non-Human Primate Using A Lensless Microscope, Jimin Wu, Yuzhi Chen, Ashok Veeraraghavan, Eyal Seidemann, Jacob T Robinson Feb 2024

Mesoscopic Calcium Imaging In A Head-Unrestrained Male Non-Human Primate Using A Lensless Microscope, Jimin Wu, Yuzhi Chen, Ashok Veeraraghavan, Eyal Seidemann, Jacob T Robinson

Faculty, Staff and Students Publications

Mesoscopic calcium imaging enables studies of cell-type specific neural activity over large areas. A growing body of literature suggests that neural activity can be different when animals are free to move compared to when they are restrained. Unfortunately, existing systems for imaging calcium dynamics over large areas in non-human primates (NHPs) are table-top devices that require restraint of the animal’s head. Here, we demonstrate an imaging device capable of imaging mesoscale calcium activity in a head-unrestrained male non-human primate. We successfully miniaturize our system by replacing lenses with an optical mask and computational algorithms. The resulting lensless microscope can fit …


A Novel Theta-Controlled Vibrotactile Brain-Computer Interface To Treat Chronic Pain: A Pilot Study, Phillip Demarest, Nabi Rustamov, James Swift, Tao Xie, Markus Adamek, Hohyun Cho, Elizabeth Wilson, Zhuangyu Han, Alexander Belsten, Nicholas Luczak, Peter Brunner, Simon Haroutounian, Eric C Leuthardt Feb 2024

A Novel Theta-Controlled Vibrotactile Brain-Computer Interface To Treat Chronic Pain: A Pilot Study, Phillip Demarest, Nabi Rustamov, James Swift, Tao Xie, Markus Adamek, Hohyun Cho, Elizabeth Wilson, Zhuangyu Han, Alexander Belsten, Nicholas Luczak, Peter Brunner, Simon Haroutounian, Eric C Leuthardt

2020-Current year OA Pubs

Limitations in chronic pain therapies necessitate novel interventions that are effective, accessible, and safe. Brain-computer interfaces (BCIs) provide a promising modality for targeting neuropathology underlying chronic pain by converting recorded neural activity into perceivable outputs. Recent evidence suggests that increased frontal theta power (4-7 Hz) reflects pain relief from chronic and acute pain. Further studies have suggested that vibrotactile stimulation decreases pain intensity in experimental and clinical models. This longitudinal, non-randomized, open-label pilot study's objective was to reinforce frontal theta activity in six patients with chronic upper extremity pain using a novel vibrotactile neurofeedback BCI system. Patients increased their BCI …


The Effect Of Breastfeeding Practices Of Undernourished Mothers In Rural Sierra Leone On Infant Growth And Mortality, Aminata Shamit Koroma, Kevin B Stephenson, Per O Iversen, Mark J Manary, David Taylor Hendrixson Feb 2024

The Effect Of Breastfeeding Practices Of Undernourished Mothers In Rural Sierra Leone On Infant Growth And Mortality, Aminata Shamit Koroma, Kevin B Stephenson, Per O Iversen, Mark J Manary, David Taylor Hendrixson

2020-Current year OA Pubs

Breastfeeding provides optimal infant nutrition; however, <50% of infants are exclusively breastfed (EBF) for 6 months. We aimed to describe breastfeeding practices and their effects on growth and mortality among a high-risk mother-infant cohort in rural Sierra Leone. This was a secondary analysis of data from a randomized nutrition intervention trial among undernourished pregnant women. The study's primary outcomes were infant weight and length gains at 6 weeks of age. We included 1270 singleton infants in the analysis, with 1092 (85.6%) having 24-week outcome data. At 6 weeks, 88% were EBF, but the rate of EBF decreased to 17% at 24 weeks. The EBF infants at 6 weeks had improved length (difference of 0.9 mm/week; 95% CI 0.4 to 1.3;