Article
Biotechnology & Applied Microbiology
Sarah A. Morris, Kristine R. Crews, Randall T. Hayden, Clifford M. Takemoto, Wenjian Yang, Donald K. Baker, Ulrich Broeckel, Mary Relling, Cyrine E. Haidar
Summary: G6PD deficiency is a common enzyme disorder associated with hemolytic anemia. Clinical G6PD genotyping and activity testing are two commonly used methods that can be used together to determine the G6PD phenotype more accurately.
PHARMACOGENETICS AND GENOMICS
(2022)
Review
Genetics & Heredity
Cyrine E. Haidar, Kristine R. Crews, James M. Hoffman, Mary Relling, Kelly E. Caudle
Summary: Pharmacogenomic testing is effective in enhancing medication safety and efficacy. However, preemptive testing poses logistical concerns, such as reimbursement, result reporting, and portability. Lessons can be learned from institutions that have implemented preemptive testing.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
(2022)
Article
Hematology
Nam H. K. Nguyen, Roya Rafiee, Abderrahmane Tagmount, Amin Sobh, Alex Loguinov, Angelica K. de Jesus Sosa, Abdelrahman H. Elsayed, Mohammed Gbadamosi, Nathan Seligson, Christopher R. Cogle, Jeffery Rubnitz, Raul Ribeiro, James Downing, Xueyuan Cao, Stanley B. Pounds, Christopher D. Vulpe, Jatinder K. Lamba
Summary: This study utilized CRISPR/Cas9 technology to identify known genes, such as TOP2A and ABCC1, as well as novel genes including RAD54L2, PRKDC, and ZNF451, which may serve as potential therapeutic targets for overcoming treatment resistance.
Meeting Abstract
Hematology
Jatinder K. Lamba, Xueyuan Cao, Huiyun Wu, Hiroto Inaba, Raul C. Ribeiro, Junmin Peng, Tanja A. Gruber, Jeffrey E. Rubnitz, Stanley B. Pounds
Meeting Abstract
Hematology
Jason Xu, Changya Chen, Tiffaney L. Vincent, Petri Polonen, Abdelrahman Elsayed, Jianzhong Hu, Satoshi Yoshimura, Wenbao Yu, Chia-hui Chen, Elizabeth Li, Rawan Shraim, Marieke Lavaert, Haley Newman, Yang-yang Ding, Anusha Thadi, Kyung Jin Ahn, Jacqueline Peng, Chujie Gong, Yusha Sun, Shovik Bandyopadhyay, David Frank, Mignon L. Loh, Elizabeth A. Raetz, Zhiguo Chen, Brent L. Wood, Meenakshi Devidas, Kimberly P. Dunsmore, Stuart S. Winter, Gang Wu, Avinash Bhandoola, Stanley B. Pounds, Stephen P. Hunger, Jun J. Yang, Charles G. Mullighan, David T. Teachey, Kai Tan
Meeting Abstract
Hematology
Petri Polonen, Abdelrahman Elsayed, Danika Di Giacomo, Lindsey Montefiori, Shunsuke Kimura, Jason Myers, Dale Hedges, Jason Xu, Yawei Hui, Zhongshan Cheng, Yiping Fan, Ilaria Iacobucci, Yunchao Chang, Rawan Shraim, Meenakshi Devidas, Stuart S. Winter, Kimberly P. Dunsmore, Jun J. J. Yang, Tiffaney L. Vincent, Kai Tan, Changya Chen, Haley Newman, Mignon L. Loh, Elizabeth A. Raetz, Stephen P. Hunger, Evadnie Rampersaud, Ti-Cheng Chang, Gang Wu, Stanley B. Pounds, Charles G. Mullighan, David T. Teachey
Article
Biochemistry & Molecular Biology
Shawn H. R. Lee, Wenjian Yang, Yoshihiro Gocho, August John, Lauren Rowland, Brandon Smart, Hannah Williams, Dylan Maxwell, Jeremy Hunt, Wentao Yang, Kristine R. R. Crews, Kathryn G. G. Roberts, Sima Jeha, Cheng Cheng, Seth E. E. Karol, Mary V. V. Relling, Gary L. L. Rosner, Hiroto Inaba, Charles G. G. Mullighan, Ching-Hon Pui, William E. E. Evans, Jun J. J. Yang
Summary: Contemporary chemotherapy for childhood acute lymphoblastic leukemia is personalized based on clinical features, leukemia genomics, and minimal residual disease. However, the pharmacological basis of these prognostic variables is unclear. A study analyzing samples from 805 children with newly diagnosed leukemia identified variations in drug response and determined that certain subtypes were more sensitive to specific agents. The findings suggest opportunities for individualizing therapy and exploring alternative strategies for childhood acute lymphoblastic leukemia.
Article
Hematology
Richard J. Marrero, Xueyuan Cao, Huiyun Wu, Abdelrahman H. Elsayed, Jeffery M. Klco, Raul C. Ribeiro, Jeffrey E. Rubnitz, Xiaotu Ma, Soheil Meshinchi, Richard Aplenc, E. Anders Kolb, Rhonda E. Ries, Todd A. Alonzo, Stanley B. Pounds, Jatinder K. Lamba
Summary: Cytarabine arabinoside (Ara-C) is an important drug in acute myeloid leukemia (AML) chemotherapy. The SAMHD1 gene, which is involved in Ara-C metabolism, has been found to affect the response to this drug. In this study, we investigated the association between genetic variations in SAMHD1 and clinical outcome in pediatric AML patients. The results demonstrate the relevance of SAMHD1 pharmacogenomics in the context of Ara-C response and suggest the need for further validation in larger patient cohorts.
Article
Oncology
Audrey Lasry, Bettina Nadorp, Maarten Fornerod, Deedra Nicolet, Huiyun Wu, Christopher J. Walker, Zhengxi Sun, Matthew T. Witkowski, Anastasia N. Tikhonova, Maria Guillamot-Ruano, Geraldine Cayanan, Anna Yeaton, Gabriel Robbins, Esther A. Obeng, Aristotelis Tsirigos, Richard M. Stone, John C. Byrd, Stanley Pounds, William L. Carroll, Tanja A. Gruber, Ann-Kathrin Eisfeld, Iannis Aifantis
Summary: This study provides a comprehensive analysis of the bone marrow immune microenvironment in adult and pediatric AML patients. Unique inflammation signatures were identified in a subset of AML patients, which were associated with poor outcomes. Dysfunctional B-cell subtype, atypical B cells, were found to be enriched in high-inflammation AML patients, along with an increase in CD8(+)GZMK(+) and regulatory T cells, and a reduction in T-cell clonal expansion. An inflammation-associated gene score (iScore) was developed which predicts survival outcomes and refines current risk stratifications in AML patients. The study highlights the importance of considering the inflammatory state in clinical settings.
Article
Oncology
Georgios E. Christakopoulos, Kendra N. Walker, Jesse Smith, Clifford M. Takemoto, Yan Zheng, Ching-Hon Pui, Raul C. Ribeiro, Lei Wang, Stanley B. Pounds, Jeffrey E. Rubnitz, Hiroto Inaba
Summary: This study investigated the clinical management strategies and effects of cytoreduction in pediatric patients with acute myeloid leukemia (AML) and hyperleukocytosis. The results showed that LD-cytarabine treatment was safe and effective in reducing leukocyte counts in children with AML and hyperleukocytosis.
Article
Virology
Jacob H. Nichols, Evan P. Williams, Jyothi Parvathareddy, Xueyuan Cao, Ying Kong, Elizabeth Fitzpatrick, Richard J. Webby, Colleen B. Jonsson
Summary: The evolution of SARS-CoV-2 has led to the emergence of variants of concern, such as Alpha and Delta, which show increased immune evasion and transmissibility. In a mouse study, it was found that while neutralizing antibodies provided protection against the original strain, reinfection with Alpha or Delta resulted in self-limited viral infection and inflammatory response in the upper respiratory tract. These findings suggest the importance of understanding breakthrough infections and immune response to different variants.
Article
Virology
Mariah K. Taylor, Evan P. Williams, Yi Xue, Piroon Jenjaroenpun, Thidathip Wongsurawat, Amanda P. Smith, Amber M. Smith, Jyothi Parvathareddy, Ying Kong, Peter Vogel, Xueyuan Cao, Walter Reichard, Briana Spruill-Harrell, Amali E. Samarasinghe, Intawat Nookaew, Elizabeth A. Fitzpatrick, Micholas Dean Smith, Michelle Aranha, Jeremy C. Smith, Colleen B. Jonsson
Summary: The closely related clinical isolates of SARS-CoV-2 exhibit phenotypic divergence and induce different immune responses. One variant shows faster viral replication and lower mortality rate, with unique immune responses. Lung histopathology reveals distinct phenotypes among the isolates.
Article
Clinical Neurology
Anthony M. Padgett, Seerat Kapoor, Leslie N. Rhodes, Katie Keen, Xueyuan Cao, Lindsey L. Locke, William C. Warner, Jeffrey R. Sawyer, Benjamin W. Sheffer, David D. Spence, Derek M. Kelly
Summary: This retrospective cohort study compared postoperative opioid consumption in patients undergoing posterior spinal fusion for adolescent idiopathic scoliosis. The study found that patients treated with a perioperative multimodal analgesic injection had significantly lower consumption of PRN morphine equivalents and higher rates of ambulation on postoperative day 1 compared to those treated with patient-controlled analgesia.
Article
Oncology
Zelalem Desalegn, Alana Smith, Meron Yohannes, Xueyuan Cao, Endale Anberber, Yonas Bekuretsion, Mathewos Assefa, Marcus Bauer, Martina Vetter, Eva Johanna Kantelhardt, Tamrat Abebe, Athena Starlard-Davenport
Summary: Breast cancer is the leading cause of cancer mortality among women in Ethiopia, especially those of African ancestry. Recent studies have shown the role of microbial dysbiosis in the initiation, growth, and treatment outcome of breast cancer. However, there is a lack of research on the association between microbial composition and clinical factors in Ethiopian women with breast cancer. This study aims to profile the microbiome in breast tumor and adjacent tissues and identify associations between microbial composition and clinicopathological factors in Ethiopian women with breast cancer.
Article
Clinical Neurology
Keesha L. Powell-Roach, Yingwei Yao, Xueyuan Cao, Srikar Chamala, Margaret R. Wallace, Yenisel Cruz-Almeida, Robert E. Molokie, Zaijie Jim Wang, Diana J. Wilkie
Summary: This study investigated the association between pain and stress in patients with sickle cell disease (SCD), and found that a specific gene SNP was related to acute pain and stress-related pain. Additionally, there was a correlation between clinical pain and environmental stress, but the gene SNP did not modify this correlation. This finding highlights the importance of further exploring the role of this gene SNP in SCD.
FRONTIERS IN PAIN RESEARCH
(2023)