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Articles 27931 - 27960 of 77143

Full-Text Articles in Medical Specialties

Genetic Architecture Of Spatial Electrical Biomarkers For Cardiac Arrhythmia And Relationship With Cardiovascular Disease, William J Young, Jeffrey Haessler, Jan-Walter Benjamins, Linda Repetto, Jie Yao, Aaron Isaacs, Andrew R Harper, Julia Ramirez, Sophie Garnier, Stefan Van Duijvenboden, Antoine R Baldassari, Maria Pina Concas, Thuyvy Duong, Luisa Foco, Jonas L Isaksen, Hao Mei, Raymond Noordam, Casia Nursyifa, Anne Richmond, Meddly L Santolalla, Colleen M Sitlani, Negin Soroush, Sébastien Thériault, Stella Trompet, Stefanie Aeschbacher, Fariba Ahmadizar, Alvaro Alonso, Jennifer A Brody, Archie Campbell, Adolfo Correa, Dawood Darbar, Antonio De Luca, Jean-François Deleuze, Christina Ellervik, Christian Fuchsberger, Anuj Goel, Christopher Grace, Xiuqing Guo, Torben Hansen, Susan R Heckbert, Rebecca D Jackson, Jan A Kors, Maria Fernanda Lima-Costa, Allan Linneberg, Peter W Macfarlane, Alanna C Morrison, Pau Navarro, David J Porteous, Peter P Pramstaller, Alexander P Reiner, Lorenz Risch, Ulrich Schotten, Xia Shen, Gianfranco Sinagra, Elsayed Z Soliman, Monika Stoll, Eduardo Tarazona-Santos, Andrew Tinker, Katerina Trajanoska, Eric Villard, Helen R Warren, Eric A Whitsel, Kerri L Wiggins, Dan E Arking, Christy L Avery, David Conen, Giorgia Girotto, Niels Grarup, Caroline Hayward, J Wouter Jukema, Dennis O Mook-Kanamori, Morten Salling Olesen, Sandosh Padmanabhan, Bruce M Psaty, Cristian Pattaro, Antonio Luiz P Ribeiro, Jerome I Rotter, Bruno H Stricker, Pim Van Der Harst, Cornelia M Van Duijn, Niek Verweij, James G Wilson, Michele Orini, Philippe Charron, Hugh Watkins, Charles Kooperberg, Henry J Lin, James F Wilson, Jørgen K Kanters, Nona Sotoodehnia, Borbala Mifsud, Pier D Lambiase, Larisa G Tereshchenko, Patricia B Munroe Mar 2023

Genetic Architecture Of Spatial Electrical Biomarkers For Cardiac Arrhythmia And Relationship With Cardiovascular Disease, William J Young, Jeffrey Haessler, Jan-Walter Benjamins, Linda Repetto, Jie Yao, Aaron Isaacs, Andrew R Harper, Julia Ramirez, Sophie Garnier, Stefan Van Duijvenboden, Antoine R Baldassari, Maria Pina Concas, Thuyvy Duong, Luisa Foco, Jonas L Isaksen, Hao Mei, Raymond Noordam, Casia Nursyifa, Anne Richmond, Meddly L Santolalla, Colleen M Sitlani, Negin Soroush, Sébastien Thériault, Stella Trompet, Stefanie Aeschbacher, Fariba Ahmadizar, Alvaro Alonso, Jennifer A Brody, Archie Campbell, Adolfo Correa, Dawood Darbar, Antonio De Luca, Jean-François Deleuze, Christina Ellervik, Christian Fuchsberger, Anuj Goel, Christopher Grace, Xiuqing Guo, Torben Hansen, Susan R Heckbert, Rebecca D Jackson, Jan A Kors, Maria Fernanda Lima-Costa, Allan Linneberg, Peter W Macfarlane, Alanna C Morrison, Pau Navarro, David J Porteous, Peter P Pramstaller, Alexander P Reiner, Lorenz Risch, Ulrich Schotten, Xia Shen, Gianfranco Sinagra, Elsayed Z Soliman, Monika Stoll, Eduardo Tarazona-Santos, Andrew Tinker, Katerina Trajanoska, Eric Villard, Helen R Warren, Eric A Whitsel, Kerri L Wiggins, Dan E Arking, Christy L Avery, David Conen, Giorgia Girotto, Niels Grarup, Caroline Hayward, J Wouter Jukema, Dennis O Mook-Kanamori, Morten Salling Olesen, Sandosh Padmanabhan, Bruce M Psaty, Cristian Pattaro, Antonio Luiz P Ribeiro, Jerome I Rotter, Bruno H Stricker, Pim Van Der Harst, Cornelia M Van Duijn, Niek Verweij, James G Wilson, Michele Orini, Philippe Charron, Hugh Watkins, Charles Kooperberg, Henry J Lin, James F Wilson, Jørgen K Kanters, Nona Sotoodehnia, Borbala Mifsud, Pier D Lambiase, Larisa G Tereshchenko, Patricia B Munroe

Faculty, Staff and Student Publications

The 3-dimensional spatial and 2-dimensional frontal QRS-T angles are measures derived from the vectorcardiogram. They are independent risk predictors for arrhythmia, but the underlying biology is unknown. Using multi-ancestry genome-wide association studies we identify 61 (58 previously unreported) loci for the spatial QRS-T angle (N = 118,780) and 11 for the frontal QRS-T angle (N = 159,715). Seven out of the 61 spatial QRS-T angle loci have not been reported for other electrocardiographic measures. Enrichments are observed in pathways related to cardiac and vascular development, muscle contraction, and hypertrophy. Pairwise genome-wide association studies with classical ECG traits identify shared genetic …


Tsks Localizes To Nuage In Spermatids And Regulates Cytoplasmic Elimination During Spermiation, Keisuke Shimada, Soojin Park, Seiya Oura, Taichi Noda, Akane Morohoshi, Martin M Matzuk, Masahito Ikawa Mar 2023

Tsks Localizes To Nuage In Spermatids And Regulates Cytoplasmic Elimination During Spermiation, Keisuke Shimada, Soojin Park, Seiya Oura, Taichi Noda, Akane Morohoshi, Martin M Matzuk, Masahito Ikawa

Faculty, Staff and Students Publications

Spermatozoa have a streamlined shape to swim through the oviduct to fertilize oocytes. To become svelte spermatozoa, spermatid cytoplasm must be eliminated in several steps including sperm release, which is part of spermiation. Although this process has been well observed, the molecular mechanisms that underlie it remain unclear. In male germ cells, there are membraneless organelles called nuage, which are observed by electron microscopy in various forms of dense material. Reticulated body (RB) and chromatoid body remnant (CR) are two types of nuage in spermatids, but the functions of both are unknown. Using CRISPR/Cas9 technology, we deleted the entire coding …


Use Of Dual Genomic Sequencing To Screen Mitochondrial Diseases In Pediatrics: A Retrospective Analysis, Teng-Hui Wu, Jing Peng, Li Yang, Yan-Hui Chen, Xiu-Lan Lu, Jiao-Tian Huang, Jie-Yu You, Wen-Xian Ou-Yang, Yue-Yu Sun, Yi-Nan Xue, Xiao Mao, Hui-Ming Yan, Rong-Na Ren, Jing Xie, Zhi-Heng Chen, Victor-Wei Zhang, Gui-Zhen Lyu, Fang He Mar 2023

Use Of Dual Genomic Sequencing To Screen Mitochondrial Diseases In Pediatrics: A Retrospective Analysis, Teng-Hui Wu, Jing Peng, Li Yang, Yan-Hui Chen, Xiu-Lan Lu, Jiao-Tian Huang, Jie-Yu You, Wen-Xian Ou-Yang, Yue-Yu Sun, Yi-Nan Xue, Xiao Mao, Hui-Ming Yan, Rong-Na Ren, Jing Xie, Zhi-Heng Chen, Victor-Wei Zhang, Gui-Zhen Lyu, Fang He

Children’s Nutrition Research Center Staff Publications

Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively sequencing has improved diagnostic rates and speed, and was increasingly being used as a first-line diagnostic test. Paediatric patients (aged <  18 years) who underwent dual genomic sequencing were enrolled in this retrospective multicentre study. We evaluated the mitochondrial disease criteria (MDC) and molecular diagnostic yield of dual genomic sequencing. Causative variants were identified in 177 out of 503 (35.2%) patients using dual genomic sequencing. Forty-six patients (9.1%) had mitochondria-related variants, including 25 patients with nuclear DNA (nDNA) variants, 15 with mitochondrial DNA (mtDNA) variants, and six with dual genomic variants (MT-ND6 and POLG; MT-ND5 and RARS2; MT-TL1 and NARS2; MT-CO2 and NDUFS1; MT-CYB and SMARCA2; and CHRNA4 and MT-CO3). Based on the MDC, 15.2% of the patients with mitochondria-related variants were classified as "unlikely to have mitochondrial disorder". Moreover, 4.5% of the patients with non-mitochondria-related variants and 1.43% with negative genetic tests, were classified as "probably having mitochondrial disorder". Dual genomic sequencing in suspected MDs provided a more comprehensive and accurate diagnosis for pediatric patients, especially for patients with dual genomic variants.


Renal Cell Carcinoma Unclassified With Medullary Phenotype In A Patient With Neurofibromatosis Type 2, Sanila Sarkar, Whitney Throckmorton, Racheal Bingham, Pavlos Msaouel, Giannicola Genovese, John Slopis, Priya Rao, Zsila Sadighi, Cynthia E Herzog Mar 2023

Renal Cell Carcinoma Unclassified With Medullary Phenotype In A Patient With Neurofibromatosis Type 2, Sanila Sarkar, Whitney Throckmorton, Racheal Bingham, Pavlos Msaouel, Giannicola Genovese, John Slopis, Priya Rao, Zsila Sadighi, Cynthia E Herzog

Faculty, Staff and Student Publications

We present, to our knowledge, the first reported case of germline neurofibromatosis Type 2 (NF2) associated with renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) with somatic loss by immunohistochemistry of the SMARCB1 tumor suppressor gene located centromeric to NF2 on chromosome 22q. Our patient is a 15-year-old with germline neurofibromatosis Type 2 (NF2) confirmed by pathogenic mutation of c.-854-??46+??deletion. Her NF2 history is positive for a right optic nerve sheath meningioma, CNIII schwannoma requiring radiation therapy and post gross total resection of right frontotemporal anaplastic meningioma followed by radiation. At age 15 she developed new onset weight loss and …


Enzalutamide-Induced Signatures Revealed By Epigenetic Plasticity Using Single-Cell Multi-Omics Sequencing In Prostate Cancer, Huihui Fan, Jinze Li, Astrid M Manuel, Zhongming Zhao Mar 2023

Enzalutamide-Induced Signatures Revealed By Epigenetic Plasticity Using Single-Cell Multi-Omics Sequencing In Prostate Cancer, Huihui Fan, Jinze Li, Astrid M Manuel, Zhongming Zhao

Faculty, Staff and Student Publications

Prostate cancer is morphologically and molecularly heterogeneous, which poses obstacles for early diagnosis and treatment. Advancements in understanding the heterogeneity of prostate cancer will help navigate through these challenges and ultimately benefit patients. In this study, we integrated single-cell sequencing for transposase-accessible chromatin and whole transcriptome in prostate cancer cell lines, aiming to decode the epigenetic plasticity upon enzalutamide (ENZ) treatment. By comparing the cell populations representing early-treatment response or resistance to the initial tumor cells, we identified seven signature gene sets; they present consistent trends of chromatin closing co-occurred with down-regulated genes during early response and chromatin opening with …


Validation Of The Alfa-1200 Model In Older Patients With Aml Treated With Intensive Chemotherapy, Hussein A Abbas, Hanxiao Sun, Sherry Pierce, Rashmi Kanagal-Shamanna, Ziyi Li, Musa Yilmaz, Gautam Borthakur, Adam J Dipippo, Elias Jabbour, Marina Konopleva, Nicholas J Short, Courtney Dinardo, Naval Daver, Farhad Ravandi, Tapan M Kadia Mar 2023

Validation Of The Alfa-1200 Model In Older Patients With Aml Treated With Intensive Chemotherapy, Hussein A Abbas, Hanxiao Sun, Sherry Pierce, Rashmi Kanagal-Shamanna, Ziyi Li, Musa Yilmaz, Gautam Borthakur, Adam J Dipippo, Elias Jabbour, Marina Konopleva, Nicholas J Short, Courtney Dinardo, Naval Daver, Farhad Ravandi, Tapan M Kadia

Faculty, Staff and Student Publications

No abstract provided.


Shedding Light On Mechanisms Of Myocarditis With Covid-19 Mrna Vaccines, Biykem Bozkurt Mar 2023

Shedding Light On Mechanisms Of Myocarditis With Covid-19 Mrna Vaccines, Biykem Bozkurt

Faculty, Staff and Students Publications

No abstract provided.


In Vivo Functional Characterization Of Egfr Variants Identifies Novel Drivers Of Glioblastoma, Kwanha Yu, Kathleen Kong, Brittney Lozzi, Estefania Luna-Figueroa, Alexis Cervantes, Rachel Curry, Carrie A Mohila, Ganesh Rao, Ali Jalali, Gordon B Mills, Kenneth L Scott, Benjamin Deneen Mar 2023

In Vivo Functional Characterization Of Egfr Variants Identifies Novel Drivers Of Glioblastoma, Kwanha Yu, Kathleen Kong, Brittney Lozzi, Estefania Luna-Figueroa, Alexis Cervantes, Rachel Curry, Carrie A Mohila, Ganesh Rao, Ali Jalali, Gordon B Mills, Kenneth L Scott, Benjamin Deneen

Faculty, Staff and Students Publications

BACKGROUND: Glioblastoma is the most common and aggressive primary brain tumor. Large-scale sequencing initiatives have cataloged its mutational landscape in hopes of elucidating mechanisms driving this deadly disease. However, a major bottleneck in harnessing this data for new therapies is deciphering "driver" and "passenger" events amongst the vast volume of information.

METHODS: We utilized an autochthonous, in vivo screening approach to identify driver, EGFR variants. RNA-Seq identified unique molecular signatures of mouse gliomas across these variants, which only differ by a single amino acid change. In particular, we identified alterations to lipid metabolism, which we further validated through an unbiased …


Hypermitotic Meningiomas Harbor Dna Methylation Subgroups With Distinct Biological And Clinical Features, Abrar Choudhury, William C Chen, Calixto-Hope G Lucas, James C Bayley, Akdes S Harmanci, Sybren L N Maas, Sandro Santagata, Tiemo Klisch, Arie Perry, Wenya Linda Bi, Felix Sahm, Akash J Patel, Stephen T Magill, David R Raleigh Mar 2023

Hypermitotic Meningiomas Harbor Dna Methylation Subgroups With Distinct Biological And Clinical Features, Abrar Choudhury, William C Chen, Calixto-Hope G Lucas, James C Bayley, Akdes S Harmanci, Sybren L N Maas, Sandro Santagata, Tiemo Klisch, Arie Perry, Wenya Linda Bi, Felix Sahm, Akash J Patel, Stephen T Magill, David R Raleigh

Faculty, Staff and Students Publications

BACKGROUND: Meningiomas, the most common primary intracranial tumors, can be separated into 3 DNA methylation groups with distinct biological drivers, clinical outcomes, and therapeutic vulnerabilities. Alternative meningioma grouping schemes using copy number variants, gene expression profiles, somatic short variants, or integrated molecular models have been proposed. These data suggest meningioma DNA methylation groups may harbor subgroups unifying contrasting theories of meningioma biology.

METHODS: A total of 565 meningioma DNA methylation profiles from patients with comprehensive clinical follow-up at independent discovery (n = 200) or validation (n = 365) institutions were reanalyzed and classified into Merlin-intact, Immune-enriched, or Hypermitotic DNA methylation …


Human Schistosomiasis Vaccines As Next Generation Control Tools, Peter J Hotez, Maria Elena Bottazzi Mar 2023

Human Schistosomiasis Vaccines As Next Generation Control Tools, Peter J Hotez, Maria Elena Bottazzi

Faculty, Staff and Students Publications

No abstract provided.


Downregulated Klf2 In Polycythemia Vera And Essential Thrombocythemia Induces Prothrombotic Gene Expression, Jihyun Song, Soo Jin Kim, Jahnavi Gollamudi, Perumal Thiagarajan, Josef T Prchal Mar 2023

Downregulated Klf2 In Polycythemia Vera And Essential Thrombocythemia Induces Prothrombotic Gene Expression, Jihyun Song, Soo Jin Kim, Jahnavi Gollamudi, Perumal Thiagarajan, Josef T Prchal

Faculty, Staff and Students Publications

Thromboses are major causes of morbidity and mortality in polycythemia vera (PV) and essential thrombocythemia (ET) diseases associated with JAK2V617F mutation. However, the molecular mechanism(s) of increased thrombosis in PV and ET remain unknown. Kruppel-like factor 2 (KLF2) is a transcription factor that regulates expression of genes associated with inflammation and thrombosis; the absence of KLF2 in neutrophils causes thrombosis by inducing tissue factor. We studied the role of KLF2 in regulating prothrombotic gene expression in PV and ET. Neutrophils and platelets KLF2 expression in PV and ET was lower than the controls. Furthermore, in patients with thromboses, KLF2 transcripts …


Review Of Orthoplastic Techniques For Lower Extremity Reconstruction: Part One, Benjamin Heddy, Brady Webb Mar 2023

Review Of Orthoplastic Techniques For Lower Extremity Reconstruction: Part One, Benjamin Heddy, Brady Webb

Advances in Clinical Medical Research and Healthcare Delivery

Orthoplastic techniques are effective tools for limb salvage in the lower extremity. In order to apply proper techniques successfully, a surgeon must be aware of all the different types of flaps available. Proper pre-operative evaluation and patient selection are also important factors. The following review covers six papers that give surgeons a strong foundation in the anatomical basis and surgical technique of intrinsic muscle flaps and other fasciocutaneous or adipofascial flaps of the foot. These flaps, along with split thickness skin grafts, external fixation, and dermal regenerative templates, quickly close soft tissue deficits in the foot and ankle that often …


A New Wave Of The Overdose Epidemic Arises During The Covid-19 Pandemic, Tolga Suvar Md, Asokumar Buvanendran Md, Stephen Music Do, Wilson M. Compton Md, Mpe Mar 2023

A New Wave Of The Overdose Epidemic Arises During The Covid-19 Pandemic, Tolga Suvar Md, Asokumar Buvanendran Md, Stephen Music Do, Wilson M. Compton Md, Mpe

Advances in Clinical Medical Research and Healthcare Delivery

Abstract

Objective:

The goal of this manuscript is to highlight the notoriety of the overdose epidemic which has been masked by the Coronavirus pandemic.

Methods:

A thorough literature review of PubMed and the latest statistics from the Centers for Disease Control and Prevention (CDC) was performed for the most relevant and updated data regarding overdose deaths.

Conclusion:

The global health crisis known as the Coronavirus Disease 2019 (COVID-19) pandemic collided with the opioid epidemic in March of 2020, with devastating consequences for the United States. By overwhelming the healthcare system, the pandemic impacted patients who require continued mental health services, …


A Case Of Maintenance Prednisone In Anca Glomerulonephritis, Arjun Sekar, Pulkit Gandhi, Vijay Sheldon, Aswanth Reddy, Ruth Campbell Mar 2023

A Case Of Maintenance Prednisone In Anca Glomerulonephritis, Arjun Sekar, Pulkit Gandhi, Vijay Sheldon, Aswanth Reddy, Ruth Campbell

Advances in Clinical Medical Research and Healthcare Delivery

Anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis (AAV) is a rare condition that can cause rapid renal failure. Treatment involves steroids and other immunosuppressive agents. Agents for induction include rituximab, cyclophosphamide, pulse dose steroids and avacopan.

Maintenance regimens include tapered doses of steroids, azathioprine and rituximab

We present a case of severe AAV that maintained remission with a protracted course of low dose prednisone without maintenance rituximab or azathioprine.

A 70-year-old woman was admitted for acute kidney injury (AKI), with a serum creatinine (sCr) of 6.93 mg/dL (baseline sCr of 0.9 mg/dL, nil proteinuria.) Serologic work-up was positive for P-ANCA. She …


Graves' Disease And Major Histocompatibility Complex Class Ii: A Meta-Analysis Of Hla-Dq And Hla-Drb1, Dylan Thibaut, Connor Sweeney, Shannon South, Mohamed Hussein Mar 2023

Graves' Disease And Major Histocompatibility Complex Class Ii: A Meta-Analysis Of Hla-Dq And Hla-Drb1, Dylan Thibaut, Connor Sweeney, Shannon South, Mohamed Hussein

Advances in Clinical Medical Research and Healthcare Delivery

Background: Human leukocyte antigen (HLA) class II has shown potential in determining prognosis, understanding medication reactions, and predicting onset of Graves’ disease. The aim of this study is to further investigate the association between Graves’ disease and HLA class II, specifically HLA-DQ and HLA-DR, via meta-analysis to find HLAs that can be further examined for prognostic reasons.

Methods: Statistical analysis was performed to determine if variants of HLA-DQA1, HLA-DQB1, or HLA-DRB1 were associated with significantly altered odds of Graves’ disease. A minimum of three studies pertaining to a particular HLA was required for inclusion. Studies were excluded if …


Varied Performance Of Picture Description Task As A Screening Tool Across Mci Subtypes, Joan A. Mefford, Zilong Zhao, Leah Heilier, Man Xu, Guifeng Zhou, Rachel Mace, Kelly L. Sloane, Shannon M. Sheppard, Shenly Glenn Mar 2023

Varied Performance Of Picture Description Task As A Screening Tool Across Mci Subtypes, Joan A. Mefford, Zilong Zhao, Leah Heilier, Man Xu, Guifeng Zhou, Rachel Mace, Kelly L. Sloane, Shannon M. Sheppard, Shenly Glenn

Communication Sciences and Disorders Faculty Articles and Research

A picture description task is a component of Miro Health’s platform for self-administration of neurobehavioral assessments. Picture description has been used as a screening tool for identification of individuals with Alzheimer’s disease and mild cognitive impairment (MCI), but currently requires in-person administration and scoring by someone with access to and familiarity with a scoring rubric. The Miro Health implementation allows broader use of this assessment through self-administration and automated processing, analysis, and scoring to deliver clinically useful quantifications of the users’ speech production, vocal characteristics, and language. Picture description responses were collected from 62 healthy controls (HC), and 33 participants …


Prognostication Of Dna Damage Response Protein Expression Patterns In Chronic Lymphocytic Leukemia, Ti'ara L Griffen, Fieke W Hoff, Yihua Qiu, Jan Burger, William Wierda, Steven M Kornblau Mar 2023

Prognostication Of Dna Damage Response Protein Expression Patterns In Chronic Lymphocytic Leukemia, Ti'ara L Griffen, Fieke W Hoff, Yihua Qiu, Jan Burger, William Wierda, Steven M Kornblau

Faculty, Staff and Student Publications

Proteomic DNA Damage Repair (DDR) expression patterns in Chronic Lymphocytic Leukemia were characterized by quantifying and clustering 24 total and phosphorylated DDR proteins. Overall, three protein expression patterns (C1-C3) were identified and were associated as an independent predictor of distinct patient overall survival outcomes. Patients within clusters C1 and C2 had poorer survival outcomes and responses to fludarabine, cyclophosphamide, and rituxan chemotherapy compared to patients within cluster C3. However, DDR protein expression patterns were not prognostic in more modern therapies with BCL2 inhibitors or a BTK/PI3K inhibitor. Individually, nine of the DDR proteins were prognostic for predicting overall survival and/or …


Reverse Phase Protein Array Profiling Identifies Recurrent Protein Expression Patterns Of Dna Damage-Related Proteins Across Acute And Chronic Leukemia: Samples From Adults And The Children's Oncology Group, Fieke W Hoff, Ti'ara L Griffen, Brandon D Brown, Terzah M Horton, Jan Burger, William Wierda, Stefan E Hubner, Yihua Qiu, Steven M Kornblau Mar 2023

Reverse Phase Protein Array Profiling Identifies Recurrent Protein Expression Patterns Of Dna Damage-Related Proteins Across Acute And Chronic Leukemia: Samples From Adults And The Children's Oncology Group, Fieke W Hoff, Ti'ara L Griffen, Brandon D Brown, Terzah M Horton, Jan Burger, William Wierda, Stefan E Hubner, Yihua Qiu, Steven M Kornblau

Faculty, Staff and Student Publications

DNA damage response (DNADR) recognition and repair (DDR) pathways affect carcinogenesis and therapy responsiveness in cancers, including leukemia. We measured protein expression levels of 16 DNADR and DDR proteins using the Reverse Phase Protein Array methodology in acute myeloid (AML) (n = 1310), T-cell acute lymphoblastic leukemia (T-ALL) (n = 361) and chronic lymphocytic leukemia (CLL) (n = 795) cases. Clustering analysis identified five protein expression clusters; three were unique compared to normal CD34+ cells. Individual protein expression differed by disease for 14/16 proteins, with five highest in CLL and nine in T-ALL, and by age in …


Functional States Of Myeloid Cells In Cancer, Lilian Van Vlerken-Ysla, Yulia Y Tyurina, Valerian E Kagan, Dmitry I Gabrilovich Mar 2023

Functional States Of Myeloid Cells In Cancer, Lilian Van Vlerken-Ysla, Yulia Y Tyurina, Valerian E Kagan, Dmitry I Gabrilovich

Faculty, Staff and Student Publications

Myeloid cells, comprised of macrophages, dendritic cells, monocytes, and granulocytes, represent a major component of the tumor microenvironment (TME) and are critically involved in regulation of tumor progression and metastasis. In recent years, single-cell omics technologies have identified multiple phenotypically distinct subpopulations. In this review, we discuss recent data and concepts suggesting that the biology of myeloid cells is largely defined by a very limited number of functional states that transcend the narrowly defined cell populations. These functional states are primarily centered around classical and pathological states of activation, with the latter state commonly defined as myeloid-derived suppressor cells. We …


The P323l Substitution In The Sars-Cov-2 Polymerase (Nsp12) Confers A Selective Advantage During Infection, Hannah Goldswain, Xiaofeng Dong, Rebekah Penrice-Randal, Muhannad Alruwaili, Ghada T Shawli, Tessa Prince, Maia Kavanagh Williamson, Jayna Raghwani, Nadine Randle, Benjamin Jones, I'Ah Donovan-Banfield, Francisco J Salguero, Julia A Tree, Yper Hall, Catherine Hartley, Maximilian Erdmann, James Bazire, Tuksin Jearanaiwitayakul, Malcolm G Semple, Peter J M Openshaw, J Kenneth Baillie, Isaric4c Investigators, Stevan R Emmett, Paul Digard, David A Matthews, Lance Turtle, Alistair C Darby, Andrew D Davidson, Miles W Carroll, Julian A Hiscox Mar 2023

The P323l Substitution In The Sars-Cov-2 Polymerase (Nsp12) Confers A Selective Advantage During Infection, Hannah Goldswain, Xiaofeng Dong, Rebekah Penrice-Randal, Muhannad Alruwaili, Ghada T Shawli, Tessa Prince, Maia Kavanagh Williamson, Jayna Raghwani, Nadine Randle, Benjamin Jones, I'Ah Donovan-Banfield, Francisco J Salguero, Julia A Tree, Yper Hall, Catherine Hartley, Maximilian Erdmann, James Bazire, Tuksin Jearanaiwitayakul, Malcolm G Semple, Peter J M Openshaw, J Kenneth Baillie, Isaric4c Investigators, Stevan R Emmett, Paul Digard, David A Matthews, Lance Turtle, Alistair C Darby, Andrew D Davidson, Miles W Carroll, Julian A Hiscox

Faculty, Staff and Student Publications

BACKGROUND: The mutational landscape of SARS-CoV-2 varies at the dominant viral genome sequence and minor genomic variant population. During the COVID-19 pandemic, an early substitution in the genome was the D614G change in the spike protein, associated with an increase in transmissibility. Genomes with D614G are accompanied by a P323L substitution in the viral polymerase (NSP12). However, P323L is not thought to be under strong selective pressure.

RESULTS: Investigation of P323L/D614G substitutions in the population shows rapid emergence during the containment phase and early surge phase during the first wave. These substitutions emerge from minor genomic variants which become dominant …


Clinical Impact Of Standardized Tavr Technique And Care Pathway: Insights From The Optimize Pro Study., Kendra J Grubb, Hemal Gada, Suneet Mittal, Tamim Nazif, Josep Rodés-Cabau, Douglas G W Fraser, Lang Lin, Joshua D Rovin, Ramzi Khalil, Ibrahim Sultan, Blake Gardner, David Lorenz, Stanley J Chetcuti, Nainesh C Patel, James E Harvey, Paul Mahoney, Brian Schwartz, Zubair Jafar, John Wang, Srinivasa Potluri, Amit N Vora, Carlos Sanchez, Amy Corrigan, Shuzhen Li, Steven J Yakubov Mar 2023

Clinical Impact Of Standardized Tavr Technique And Care Pathway: Insights From The Optimize Pro Study., Kendra J Grubb, Hemal Gada, Suneet Mittal, Tamim Nazif, Josep Rodés-Cabau, Douglas G W Fraser, Lang Lin, Joshua D Rovin, Ramzi Khalil, Ibrahim Sultan, Blake Gardner, David Lorenz, Stanley J Chetcuti, Nainesh C Patel, James E Harvey, Paul Mahoney, Brian Schwartz, Zubair Jafar, John Wang, Srinivasa Potluri, Amit N Vora, Carlos Sanchez, Amy Corrigan, Shuzhen Li, Steven J Yakubov

Heart and Vascular Articles

BACKGROUND: Procedural success and clinical outcomes after transcatheter aortic valve replacement (TAVR) have improved, but residual aortic regurgitation (AR) and new permanent pacemaker implantation (PPI) rates remain variable because of a lack of uniform periprocedural management and implantation.

OBJECTIVES: The Optimize PRO study evaluates valve performance and procedural outcomes using an "optimized" TAVR care pathway and the cusp overlap technique (COT) in patients receiving the Evolut PRO/PRO+ (Medtronic) self-expanding valves.

METHODS: Optimize PRO, a nonrandomized, prospective, postmarket study conducted in the United States, Canada, Europe, Middle East, and Australia, is enrolling patients with severe symptomatic aortic stenosis and no pre-existing …


Post Hoc Analysis Examining Symptom Severity Reduction And Symptom Absence During Food Challenges In Individuals Who Underwent Oral Immunotherapy For Peanut Allergy: Results From Three Trials, Katharina Blumchen, Andreas Kleinheinz, Ludger Klimek, Kirsten Beyer, Aikaterini Anagnostou, Christian Vogelberg, Sergejus Butovas, Robert Ryan, David Norval, Stefan Zeitler, George Du Toit Mar 2023

Post Hoc Analysis Examining Symptom Severity Reduction And Symptom Absence During Food Challenges In Individuals Who Underwent Oral Immunotherapy For Peanut Allergy: Results From Three Trials, Katharina Blumchen, Andreas Kleinheinz, Ludger Klimek, Kirsten Beyer, Aikaterini Anagnostou, Christian Vogelberg, Sergejus Butovas, Robert Ryan, David Norval, Stefan Zeitler, George Du Toit

Faculty, Staff and Students Publications

PURPOSE: Peanut allergy and its current management, involving peanut avoidance and use of rescue medication during instances of accidental exposure, are burdensome to patients and their caregivers and can be a source of stress, uncertainty, and restriction. Physicians may also be frustrated with a lack of effective and safe treatments other than avoidance in the current management of peanut allergy. Efficacy, determined using double-blind, placebo-controlled food challenges (DBPCFCs), of oral immunotherapy with peanut (Arachis hypogaea) allergen powder-dnfp (PTAH; Palforzia

METHODS: Symptom data recorded during screening and/or exit DBPCFCs from participants aged 4 to 17 years receiving PTAH or placebo were …


Assessment Of The Eligibility Of Triglyceride;Glucose Index And Triglyceride;High-Density Lipoprotein Cholesterol Ratio As Applicable Insulin Resistance Indices Among Overweight/Obese Egyptians, Ghada A. Omar, Mona A.E A. Hussein, Wafaa S. Hegab Mar 2023

Assessment Of The Eligibility Of Triglyceride;Glucose Index And Triglyceride;High-Density Lipoprotein Cholesterol Ratio As Applicable Insulin Resistance Indices Among Overweight/Obese Egyptians, Ghada A. Omar, Mona A.E A. Hussein, Wafaa S. Hegab

Journal of Medicine in Scientific Research

Background Insulin resistance (IR) means the requirement of a higher insulin concentration to produce the expected biological effect. It was proposed that triglycerides–glucose index (TY G) and triglycerides–high-density lipoprotein cholesterol ratio (TG/HDL) were dependable, applicable, and less-expensive markers of IR. However, their results varied significantly among different ethnic groups. Aim To assess the eligibility of TY G and TG/HDL as IR indices among overweight and/or obese Egyptians. Patients and methods The participants in this cross-sectional study were 328 overweight and/or obese Egyptians. Their fasting blood glucose, TG, HDL, and fasting insulin blood concentrations were estimated. Homeostasis model assessment-insulin resistance (HOMA-IR), …


Role Of Crp In Covid-19 Pneumonia: A Single-Center Experience Of 1000 Cases In A Tertiary Care Setting In India, Manojkumar Bhadake, Shital Patil, Utreshwar Dhumal Mar 2023

Role Of Crp In Covid-19 Pneumonia: A Single-Center Experience Of 1000 Cases In A Tertiary Care Setting In India, Manojkumar Bhadake, Shital Patil, Utreshwar Dhumal

Journal of Medicine in Scientific Research

Introduction Robust data are available for C-reactive protein (CRP) in bacterial infection, and it can be used in this coronavirus disease 2019 (COVID-19) pneumonia pandemic for initial assessment before planning of treatment in indoor settings in comparison with other inflammatory markers and computed tomography (CT) severity. Materials and methods A prospective, observational, follow up study was conducted that included 1000 COVID 19 cases confirmed with RT PCR. All cases were assessed with lung involvement documented and categorized based on high resolution computed tomography (HRCT) thorax, oxygen saturation, and inflammatory markers such as CRP at the entry point and follow up. …


Comparative Study Between Different Types Of Neonatal Sepsis Among Newborns Admitted To The Neonatal Intensive Care Unit In Mataria Teaching Hospital, Cairo, Nada M. Elsayed, Sohaila A. Abd El-Halim, Youssof M. Hassan Mar 2023

Comparative Study Between Different Types Of Neonatal Sepsis Among Newborns Admitted To The Neonatal Intensive Care Unit In Mataria Teaching Hospital, Cairo, Nada M. Elsayed, Sohaila A. Abd El-Halim, Youssof M. Hassan

Journal of Medicine in Scientific Research

Background Sepsis is the most frequent cause of neonatal deaths globally, varying in incidence between different countries. Sepsis is a burden on families and health care resources. Objectives To identify prevalence, type of organism, and outcome of early-onset sepsis (EOS) and late-onset sepsis (LOS). Patients and methods A cross-sectional study was conducted at the neonatal ICU of Mataria Teaching Hospital from November 2018 to October 2019. Demographic, clinical, and laboratory data of proved septic neonates were collected. Classification of cases according to the onset of sepsis: EOS (group I), in which sepsis is presented clinically before the third day of …


The Effect Of Cardiovascular Risk Factors On The Final Outcome In Patients With Covid-19, Emmanuel Louka Aziz, George Ghaly Gerges Mar 2023

The Effect Of Cardiovascular Risk Factors On The Final Outcome In Patients With Covid-19, Emmanuel Louka Aziz, George Ghaly Gerges

Journal of Medicine in Scientific Research

Background Increased cardiovascular risk factors are associated with adverse outcome in patients with coronavirus disease-2019 (COVID-19). In this study, the authors assessed the prevalence of cardiovascular risk factors in patients with COVID-19 and studied the impact of these cardiovascular risk factors on the final outcome in these patients. Aim The authors aimed to study the prevalence of cardiovascular risk factors in patients with COVID-19 as well as the impact of these cardiovascular risk factors on the final outcome in these patients. Patients and methods The study included 200 patients who were admitted in Al-Sahel teaching hospital with COVID- 19-positive PCR. …


Comparative Study Between Minimally Invasive Right Anterior Minithoracotomy Versus Mini-Upper Sternotomy In Isolated Aortic Valve Replacement (Early Outcome), Ashraf Abdelaziz, Hazem G. Bakr, Ibrahim M. Helmi Mar 2023

Comparative Study Between Minimally Invasive Right Anterior Minithoracotomy Versus Mini-Upper Sternotomy In Isolated Aortic Valve Replacement (Early Outcome), Ashraf Abdelaziz, Hazem G. Bakr, Ibrahim M. Helmi

Journal of Medicine in Scientific Research

Background Minimally invasive surgical methods have lately become popular in heart surgery. Ministernotomy and minithoracotomy are the most commonly used incisions in minimally invasive aortic valve replacement. It is still debated if one incision is better than the other. Patients and methods A prospective comparative analysis was used to examine the outcomes of 30 patients who underwent isolated aortic valve replacement. A minimally invasive right anterior minithoracotomy approach was used in group A (n = 15), whereas a mini-upper sternotomy method was used in group B (n = 15). Results The results in both groups reveal no statistical …


A Rare Case Of Dystrophinopathy: Duchenne Muscular Dystrophy;Becker Muscular Dystrophy Intermediate Complex, Manish S. Ahuja, Neena Katoch, Rachna Gulati, Subhendu Pandit, Tathagata Bose Mar 2023

A Rare Case Of Dystrophinopathy: Duchenne Muscular Dystrophy;Becker Muscular Dystrophy Intermediate Complex, Manish S. Ahuja, Neena Katoch, Rachna Gulati, Subhendu Pandit, Tathagata Bose

Journal of Medicine in Scientific Research

An 18-year-old boy with no significant perinatal history presented with insidious onset of slowly progressive flaccid paraparesis with muscle wasting in thighs. On examination, the patient had flaccid motor quadriparesis and partial atrophy of proximal thigh muscles. This was accompanied by pseudohypertrophy of calf muscles and extensor muscles in the dorsum of foot. Investigations revealed very high levels of creatinine phosphokinase in the patient (6495 IU/l in contrast to normal range of 55–170 IU/l) and in his sister (718 IU/l). Echocardiography showed dilated cardiomyopathy with severe left ventricular dysfunction. The multiplex ligation-dependent probe amplification revealed deletion of exons 3 to …


Erratum: Parents’ Knowledge, Attitude And Practices Toward Oral Health Of Their Children With Primary Dentition: A Cross Sectional Study, Marwa Foad, Mennatallah Helal, Soad Abdel Moneim Mar 2023

Erratum: Parents’ Knowledge, Attitude And Practices Toward Oral Health Of Their Children With Primary Dentition: A Cross Sectional Study, Marwa Foad, Mennatallah Helal, Soad Abdel Moneim

Journal of Medicine in Scientific Research

The Erratum statement can be found in the PDF file.


A Comparative Study On The Effects Of Dextrose Prolotherapy And Local Steroid Injection In Patients With Lateral Epicondylitis: A Randomized Controlled Trial, Abhishek Biswas, Ameed Equebal, Osama Neyaz, Rajkumar Yadav, Suvrat Gupta Mar 2023

A Comparative Study On The Effects Of Dextrose Prolotherapy And Local Steroid Injection In Patients With Lateral Epicondylitis: A Randomized Controlled Trial, Abhishek Biswas, Ameed Equebal, Osama Neyaz, Rajkumar Yadav, Suvrat Gupta

Journal of Medicine in Scientific Research

Background Lateral epicondylitis (LE) is the most common condition of elbow pain. Multiple intralesional steroid injections help in the treatment. Prolotherapy is a traditional injection method recently categorized as regenerative treatment. However, there is scarcity of literature that compares its effectiveness with steroids. Objective The aim was to compare the effectiveness of dextrose prolotherapy (DP) against local steroid injection in patients with LE in relieving pain and improving dysfunction. Participants and methods This parallel, randomized controlled trial was conducted at Outpatient Department, National Institute for Locomotor Disabilities (Divyangjan), (erstwhile National Institute for the Orthopaedically Handicapped) Kolkata, from January 2016 to …