Article
Oncology
Sandip Bartakke, Umesh Lukade, Shrividya Sethuratnam
Summary: Cytopenias are common in neonates in NICU, and although bone marrow aspirations are often performed for diagnostic purposes, trephine bone marrow biopsies have not been reported in living neonates. This study describes trephine BMB from PSIC using 18-gauge BMA needle for the first time, aiding in understanding the underlying mechanisms and diagnosis of cytopenias in neonates.
PEDIATRIC BLOOD & CANCER
(2021)
Review
Pathology
Umberto Maccio, Alessandra Gianolio, Anton Rets
Summary: Bone marrow granulomas in trephine biopsies can have various causes, including infections and non-infectious factors. Different types of granulomas can suggest different etiologies, and further analysis, such as special staining or molecular studies, is necessary to determine the cause. In cases where no infectious cause is identified, untargeted metagenomics may be a useful tool in bone marrow diagnostics.
JOURNAL OF CLINICAL PATHOLOGY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Ricardo Donners, Nicos Fotiadis, Ines Figueiredo, Matthew Blackledge, Daniel Westaby, Christina Guo, Maria de los Dolores Fenor de la Maza, Dow-Mu Koh, Nina Tunariu
Summary: This study aims to investigate the laboratory, imaging, and procedural factors associated with a positive tumor and/or NGS-feasible CT-guided sclerotic bone lesion biopsy result in cancer patients. The analysis of 113 CT-guided bone biopsies revealed that targeting areas with predominantly mild sclerosis in sclerotic bone lesions can improve tumor tissue yield and NGS feasibility.
EUROPEAN RADIOLOGY
(2022)
Article
Endocrinology & Metabolism
Zhao Liu, Peace Asuzu, Avnisha Patel, Jim Wan, Sam Dagogo-Jack
Summary: This study aimed to investigate the association between prediabetes and bone mineral density (BMD) among initially normoglycemic individuals. The results showed that higher baseline BMD was associated with a higher risk of incident prediabetes during the 5-year follow-up period.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Zsu-Zsu Chen, Yan Gao, Michelle J. Keyes, Shuliang Deng, Michael Mi, Laurie A. Farrell, Dongxiao Shen, Usman A. Tahir, Daniel E. Cruz, Debby Ngo, Mark D. Benson, Jeremy M. Robbins, Adolfo Correa, James G. Wilson, Robert E. Gerszten
Summary: Proteomics was used to study type 2 diabetes, with a focus on African American participants. A total of 325 proteins were found to be associated with incident diabetes in this population, suggesting novel biological processes related to disease development. Subsequent replication in White cohorts supported the generalizability of the findings. These diabetes-associated proteins also improved risk prediction. Overall, this study provides a more comprehensive understanding of the diabetes-associated proteome in a diverse population.
Review
Hematology
Hosuk Ryou, Oliver Lomas, Helen Theissen, Emily Thomas, Jens Rittscher, Daniel Royston
Summary: The diagnosis of myeloproliferative neoplasms requires the integration of various clinical and laboratory findings. However, the subjective and qualitative interpretation of microscopic bone marrow biopsies remains a challenge. Advances in tissue image analysis and artificial intelligence offer the potential for more objective and quantitative measurement methods, as well as improving treatment evaluation.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Multidisciplinary Sciences
Rephaim Mpofu, Kennedy Otwombe, Koleka Mlisana, Maphoshane Nchabeleng, Mary Allen, James Kublin, M. Juliana McElrath, Linda-Gail Bekker, Gavin Churchyard, Glenda Gray, Fatima Laher
Summary: Benign ethnic neutropenia (BEN) is more prevalent in Black South Africans compared to US Non-Hispanic Whites and does not increase the risk of HIV infection. Female gender and cannabis use are predictors of HIV infection risk. BEN was not associated with increased risk for HIV infection or adverse events in an HIV vaccine trial, highlighting the importance of prevention programs targeting these populations.
Article
Oncology
Reut Book, Jonathan Ben-Ezra, Chen Glait Santar, Sigi Kay, Galia Stemer, Howard S. Oster, Moshe Mittelman
Summary: Lymphoid aggregates (LA) are occasionally seen in bone marrow biopsies (BMB) of myelodysplastic syndromes (MDS) patients. This study evaluated their incidence and association with prognosis. The results showed that LA are relatively common (24%) in MDS patients and may indicate poor prognosis.
FRONTIERS IN ONCOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Valentina Giudice, Chiara Cardamone, Massimo Triggiani, Carmine Selleri
Summary: Bone marrow failure (BMF) syndromes are non-malignant hematologic diseases characterized by cytopenias, with immune system dysfunction playing a central role in the pathogenesis. Pro-inflammatory cytokines are crucial in shaping immune responses and sustaining inflammation during BMF.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Scott C. Borinstein, David Agamasu, Jonathan S. Schildcrout, Lisa Bastarache, Minoo Bagheri, Lea K. Davis, Dan M. Roden, C. Michael Stein, Sara L. Van Driest, Jonathan D. Mosley
Summary: Healthy individuals identified as Black in the United States have lower neutrophil counts compared to those identified as White, which may lead to more negative diagnostic evaluations for neutropenia.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Alan Penn, Milica Medved, Hiroyuki Abe, Vandana Dialani, Gregory S. Karczmar, David Brousseau
Summary: The study evaluated the effectiveness of using ADC thresholding to identify lesions that can avoid biopsy, and found that excluding non-mass lesions and lesions with anisotropic characteristics can significantly increase the number of avoidable biopsies.
BMC MEDICAL IMAGING
(2022)
Article
Genetics & Heredity
Sarah Cole, Neelam Giri, Blanche P. Alter, D. Matthew Gianferante
Summary: Diamond Blackfan anemia (DBA) is a rare genetic disorder characterized by failure of red blood cell production. This study investigated a large family with DBA and found a pathogenic variant in the RPS19 gene in ten family members. Most affected individuals showed steroid-responsive anemia in infancy and mild congenital malformations. However, two individuals were relatively unaffected, indicating the presence of modifier genes or other factors. These findings emphasize the need for personalized treatment and early cancer surveillance even in individuals with mild phenotypes.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, General & Internal
Margaret S. Pichardo, Tsion Zewdu Minas, Catherine M. Pichardo, Maeve Bailey-Whyte, Wei Tang, Tiffany H. Dorsey, William Wooten, Brid M. Ryan, Christopher A. Loffredo, Stefan Ambs
Summary: This study found that African American men living in deprived neighborhoods have a higher risk of prostate cancer and related mortality, potentially due to their systemic immune function and inflammation levels.
Article
Obstetrics & Gynecology
Lia A. Bernardi, Anne Waldo, Veronica J. Berrocal, Lauren A. Wise, Erica E. Marsh
Summary: The study evaluated the association between uterine fibroids and anti-mullerian hormone (AMH) concentrations. The results showed that, apart from a monotonic inverse relationship between fibroid number and AMH concentrations, other fibroid characteristics were not significantly associated with AMH concentrations.
FERTILITY AND STERILITY
(2022)
Article
Oncology
Morten N. Andersen, Niels F. Andersen, Kristina L. Lauridsen, Anders Etzerodt, Boe S. Sorensen, Niels Abildgaard, Trine Plesner, Marianne Hokland, Holger J. Moller
Summary: The activation of STAT3 in CD163(pos) TAMs in MM patients indicates that the CD163 scavenger receptor may be a useful target for delivering STAT3-inhibitory drugs to TAMs in the future.
CANCER IMMUNOLOGY IMMUNOTHERAPY
(2022)
Review
Endocrinology & Metabolism
Mingjian Shi, Ali M. Manouchehri, Christian M. Shaffer, Nataraja Sarma Vaitinadin, Jacklyn N. Hellwege, Joe-Elie Salem, Lea K. Davis, Jill H. Simmons, Dan M. Roden, M. Benjamin Shoemaker, Jane F. Ferguson, Jonathan D. Mosley
Summary: Genetic predisposition to lower TSH levels is associated with increased risk of atrial fibrillation through mechanisms mediated in part by taller stature. Understanding these genetic mechanisms could lead to improved targeted therapies to mitigate AF risk.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Rheumatology
Vivian K. Kawai, Mingjian Shi, Ge Liu, QiPing Feng, WeiQi Wei, Cecilia P. Chung, Theresa L. Walunas, Adam S. Gordon, James G. Linneman, Scott J. Hebbring, John B. Harley, Nancy J. Cox, Dan M. Roden, C. Michael Stein, Jonathan D. Mosley
Summary: Genetic predisposition to systemic lupus erythematosus (SLE) is associated with an increased risk of autoimmune-related phenotypes, including type I diabetes, but not directly linked to cardiometabolic disorders.
Article
Multidisciplinary Sciences
Minoo Bagheri, Chuan Wang, Mingjian Shi, Ali Manouchehri, Katherine T. Murray, Matthew B. Murphy, Christian M. Shaffer, Kritika Singh, Lea K. Davis, Gail P. Jarvik, Ian B. Stanaway, Scott Hebbring, Muredach P. Reilly, Robert E. Gerszten, Thomas J. Wang, Jonathan D. Mosley, Jane F. Ferguson
Summary: Inflammation, particularly involving the SH2B3 pathways, may contribute to the increased risk of cardiometabolic disease by affecting plasma kynurenine levels. Genetic approaches have identified specific inflammatory mechanisms associated with kynurenine variability, suggesting that kynurenine could be a biomarker of inflammation contributing to cardiometabolic disease risk. Mendelian randomization showed associations between kynurenine, central obesity, and C-reactive protein, further supporting the role of kynurenine in inflammation and cardiometabolic disease.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Ge Liu, Mingjian Shi, Jonathan D. Mosley, Chunhua Weng, Yanfei Zhang, Ming Ta Michael Lee, Gail P. Jarvik, Hakon Hakonarson, Bahram Namjou-Khales, Patrick Sleiman, Yuan Luo, Frank Mentch, Joshua C. Denny, MacRae F. Linton, Wei-Qi Wei, C. Michael Stein, QiPing Feng
Summary: This study utilized a genetic risk score method to examine the association between HMGCR gene variants and statin use, finding a significant link only with type 2 diabetes. There was limited evidence for pleiotropic effects of statin-induced decrease in low-density lipoprotein cholesterol levels on other diseases.
Article
Hematology
Jason H. Karnes, Jerome Rollin, Jason B. Giles, Kiana L. Martinez, Heidi E. Steiner, Christian M. Shaffer, Yukihide Momozawa, Chihiro Inai, Andrei Bombin, Mingjian Shi, Jonathan D. Mosley, Ian Stanaway, Kathleen Selleng, Thomas Thiele, Taisei Mushiroda, Claire Pouplard, Nancy M. Heddle, Michiaki Kubo, Elizabeth J. Phillips, Theodore E. Warkentin, Yves Gruel, Andreas Greinacher, Dan M. Roden
Summary: Heparin-induced thrombocytopenia (HIT) is an adverse reaction caused by an immune response to platelet factor 4 (PF4)/heparin complexes. This study identified a genetic variant associated with HIT and identified a specific single nucleotide polymorphism (SNP) related to the pathogenesis of HIT.
Article
Cardiac & Cardiovascular Systems
Nataraja Sarma Vaitinadin, Mingjian Shi, Christian M. Shaffer, Eric Farber-Eger, Brandon D. Lowery, Vineet Agrawal, Deepak K. Gupta, Dan M. Roden, Quinn S. Wells, Jonathan D. Mosley
Summary: This study indicates that a genetic predisposition to elevated BMI increases the risk for G1DD, part of which may be mediated through altered glucose homeostasis.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Mingjian Shi, Chuan Wang, Hao Mei, Marinella Temprosa, Jose C. Florez, Mark Tripputi, Jordi Merino, Loren Lipworth, Xiao-Ou Shu, Robert E. Gerszten, Thomas J. Wang, Joshua A. Beckman, Jorge L. Gamboa, Jonathan D. Mosley, Jane F. Ferguson
Summary: Elevated plasma levels of 2-AAA are associated with reduced high-density lipoprotein cholesterol levels. This association may be regulated by genes involved in mitochondrial and macrophage function.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Multidisciplinary Sciences
Robert H. George Markowitz, Abigail Leavitt LaBella, Mingjian Shi, Antonis Rokas, John A. Capra, Jane F. Ferguson, Jonathan D. Mosley, Seth R. Bordenstein
Summary: This study analyzed the effects of genetic variations related to the gut microbiome on clinical traits and discovered associations with neurological, metabolic, digestive, and circulatory diseases. The study also found correlations between specific genetic variants and the abundance of specific microbial strains. These findings highlight the triad relationship between the human genome, microbiome, and disease, and suggest the potential for precision diagnostics and therapeutics based on genetic influences on the microbiome.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Genetics & Heredity
Jodell E. Linder, Aimee Allworth, Sarah T. Bland, Pedro J. Caraballo, Rex L. Chisholm, Ellen Wright Clayton, David R. Crosslin, Ozan Dikilitas, Alanna DiVietro, Edward D. Esplin, Sophie Forman, Robert R. Freimuth, Adam S. Gordon, Richard Green, Maegan Harden, Ingrid A. Holm, Gail P. Jarvik, Elizabeth W. Karlson, Sofia Labrecque, Niall J. Lennon, Nita A. Limdi, Kathleen F. Mittendorf, Shawn N. Murphy, Lori Orlando, Cynthia A. Prows, Luke Rasmussen, Laura Rasmussen-Torvik, Robb Rowley, Konrad Teodor Sawicki, Tara Schmidlen, Shannon Terek, David Veenstra, Digna R. Velez Edwards, Devin Absher, Noura S. Abul-Husn, Jorge Alsip, Hana Bangash, Mark Beasley, Jennifer E. Below, Eta S. Berner, James Booth, Wendy K. Chung, James J. Cimino, John Connolly, Patrick Davis, Beth Devine, Stephanie M. Fullerton, Candace Guiducci, Melissa L. Habrat, Heather Hain, Hakon Hakonarson, Margaret Harr, Eden Haverfield, Valentina Hernandez, Christin Hoell, Martha Horike-Pyne, George Hripcsak, Marguerite R. Irvin, Christopher Kachulis, Dean Karavite, Eimear E. Kenny, Atlas Khan, Krzysztof Kiryluk, Bruce Korf, Leah Kottyan, Iftikhar J. Kullo, Katie Larkin, Cong Liu, Edyta Malolepsza, Teri A. Manolio, Thomas May, Elizabeth M. McNally, Frank Mentch, Alexandra Miller, Sean D. Mooney, Priyanka Murali, Brenda Mutai, Naveen Muthu, Bahram Namjou, Emma F. Perez, Megan J. Puckelwartz, Tejinder Rakhra-Burris, Dan M. Roden, Elisabeth A. Rosenthal, Seyedmohammad Saadatagah, Maya Sabatello, Dan J. Schaid, Baergen Schultz, Lynn Seabolt, Gabriel Q. Shaibi, Richard R. Sharp, Brian Shirts, Maureen E. Smith, Jordan W. Smoller, Rene Sterling, Sabrina A. Suckiel, Jeritt Thayer, Hemant K. Tiwari, Susan B. Trinidad, Theresa Walunas, Wei-Qi Wei, Quinn S. Wells, Chunhua Weng, Georgia L. Wiesner, Ken Wiley, Josh F. eMERGE Consortium, Josh F. Peterson
Summary: To assess the risk of common, complex diseases, it is important to consider clinical risk factors as well as monogenic and polygenic risks, which can be reflected in family history. Returning risk information to individuals and providers can impact preventive healthcare and the use of prophylactic therapies for those at high genetic risk.
GENETICS IN MEDICINE
(2023)
Letter
Medicine, General & Internal
Kerry R. Schaffer, Mingjian Shi, John P. Shelley, Jeffrey J. Tosoian, Linda Kachuri, John S. Witte, Jonathan D. Mosley
JAMA INTERNAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Minoo Bagheri, Vineet Agrawal, Jeffrey Annis, Mingjian Shi, Jane F. Ferguson, Matthew S. Freiberg, Jonathan D. Mosley, Evan L. Brittain
Summary: This study used genetic approaches to identify clinical conditions associated with increased pulmonary pressure and right ventricular dysfunction, and found that diabetes was significantly associated with genetic risk for increased pulmonary pressure.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Medicine, General & Internal
Mingjian Shi, John P. Shelley, Kerry R. Schaffer, Jeffrey J. Tosoian, Minoo Bagheri, John S. Witte, Linda Kachuri, Jonathan D. Mosley
Summary: A genetic predisposition to higher PSA levels was found to be associated with clinical evaluations of elevated PSA among men aged 45-59 years, suggesting a potential link between genetic variation and diagnostic work-up for prostate cancer.
Article
Medicine, Research & Experimental
Emeli Chatterjee, Rodosthenis S. Rodosthenous, Ville Kujala, Priyanka Gokulnath, Michail Spanos, Helge Immo Lehmann, Getulio Pereira de Oliveira, Mingjian Shi, Tyne W. Miller-Fleming, Guoping Li, Ionita Calin Ghiran, Katia Karalis, Joann Lindenfeld, Jonathan D. Mosley, Emily S. Lau, Jennifer E. Ho, Quanhu Sheng, Ravi Shah, Saumya Das
Summary: This study investigated the impact of circulating extracellular vesicles (EVs) from patients with cardiorenal syndrome (CRS) on renal cells using a microfluidic kidney-on-chip (KOC) model. The results showed that EVs from CRS patients induced adverse transcriptional and phenotypic responses in renal cells, which were associated with markers of renal injury. Further analysis revealed several EV-miRNAs and their mRNA targets that were relevant to pathways involved in renal injury. Additionally, the study suggested a role for FST in renal function. These findings highlight the potential involvement of EVs in the pathogenesis of CRS.
Meeting Abstract
Cardiac & Cardiovascular Systems
Vineet Agrawal, Minoo Bagheri, Nataraja Sarma Vaitinadin, Mingjian Shi, Jane F. Ferguson, Evan Brittain, Anna R. Hemnes, Quinn Wells, Deepak K. Gupta, Jonathan Mosley