Review
Biochemistry & Molecular Biology
Elena Crisa, Paola Boggione, Maura Nicolosi, Abdurraouf Mokhtar Mahmoud, Wael Al Essa, Bassel Awikeh, Anna Aspesi, Annalisa Andorno, Renzo Boldorini, Irma Dianzani, Gianluca Gaidano, Andrea Patriarca
Summary: Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) present unique challenges in terms of prognosis and treatment, requiring early detection and hematopoietic stem cell transplantation to improve outcomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, Research & Experimental
Kristen E. Schratz, Valeriya Gaysinskaya, Zoe L. Cosner, Emily A. DeBoy, Zhimin Xiang, Laura Kasch-Semenza, Liliana Florea, Pali D. Shah, Mary Armanios
Summary: The study revealed that patients with germline telomere maintenance defects exhibit diverse somatic adaptive mutations, which may alleviate the telomere crisis that promotes transformation to MDS/AML.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Multidisciplinary Sciences
Tatiana Raskovalova, Laura Scheffen, Marie-Christine Jacob, Claire Vettier, Benedicte Bulabois, Gautier Szymanski, Simon Chevalier, Nicolas Gonnet, Sophie Park, Jose Labarere
Summary: This study aimed to simplify the gating strategy for peripheral blood neutrophil myeloperoxidase expression and evaluate its accuracy. The results showed that the simplified strategy performs as well as the original one in ruling out MDS and has the potential to save time and resources.
Review
Oncology
Georgina Gener-Ricos, Yoheved S. Gerstein, Danielle Hammond, Courtney D. DiNardo
Summary: Understanding the biological features and main clinical manifestations of hereditary hematologic malignancies is crucial for identifying and referring patients with myelodysplastic syndrome who may have an inherited predisposition. Individualized genetic counseling and informed treatment decisions, particularly regarding donor selection for hematopoietic stem cell transplant, are important. Future research will enhance our understanding of these disorders and improve management of affected patients and their families.
Review
Cell Biology
Mathieu Meunier, David Laurin, Sophie Park
Summary: The bone marrow niche plays an important role in the development of myelodysplastic syndromes. Mesenchymal stromal cells secrete extracellular vesicles and their miRNA, affecting the fate of hematopoietic stem cells and contributing to leukemogenesis. Extracellular vesicles containing miRNA and proteins can be used as diagnostic and prognostic markers for MDS. Targeting these vesicles or modulating their secretion may offer potential therapeutic directions for MDS.
Article
Medicine, General & Internal
Huan Li, Fang Hu, Robert Peter Gale, Mikkael A. Sekeres, Yang Liang
Summary: Myelodysplastic syndromes (MDS) are a group of blood cancers characterized by dysregulated hematopoiesis and risk of transformation to acute myeloid leukemia. Prognostic systems can predict survival in MDS patients. Treatment goals differ for low-risk and high-risk MDS, with the aim to improve quality of life and prolong survival, respectively. Hematopoietic cell transplantation can cure MDS, but it is not widely used.
NATURE REVIEWS DISEASE PRIMERS
(2022)
Article
Medical Laboratory Technology
Sanjay S. Patel
Summary: Patients with MDS are often detected during routine laboratory investigation or work-up for IBMF syndromes, presenting symptoms of occult cytopenias. Pediatric patients with MDS tend to have bicytopenias more frequently. Physical examination findings can reveal anomalies in various body systems, and differential diagnostic considerations should include a wide range of possibilities such as infections, toxins, autoimmune disorders, and inherited anemias.
CLINICS IN LABORATORY MEDICINE
(2021)
Article
Pathology
Roya Shahidi, Muhajir Mohamed, Archana Sharma, Jessica Heenan, Julia Gardner, Sam Hitchins
Summary: This study aimed to evaluate the impact of azacitidine treatment on MDS patients with bone marrow fibrosis. The study found that patients with fibrotic marrow had shorter overall survival and event-free survival compared to patients without fibrosis. Bone marrow fibrosis was an independent factor affecting overall survival.
Article
Genetics & Heredity
Michell M. Lozano M. Chinga, Alison A. A. Bertuch, Zeinab Afify, Kaylee Dollerschell, Joanne I. I. Hsu, Tami D. D. John, Emily S. S. Rao, Robert Grant Rowe, Vijay G. G. Sankaran, Akiko Shimamura, David A. A. Williams, Taizo A. A. Nakano
Summary: The MECOM gene is crucial for hematopoietic stem cell self-renewal and maintenance. Variants in this gene have been associated with various disorders, such as congenital thrombocytopenia, radioulnar synostosis, and bone marrow failure. The phenotypic spectrum of MECOM-associated syndromes continues to expand, and more pathogenic variants are being identified.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Medicine, General & Internal
Carlo Pescia, Francesca Boggio, Giorgio Alberto Croci, Ramona Cassin, Marco Barella, Loredana Pettine, Gianluigi Reda, Elena Sabattini, Carlo Finelli, Umberto Gianelli
Summary: Results of the retrospective analysis on 57 high-risk MDS cases treated with azacitidine revealed that the treatment had minimal impact on bone marrow morphology, but led to a slight decrease in CD34+, CD117+, and p53+ cells. Pre-treatment IPSS-R cytogenetic score, lymphocytic infiltrate, and p53+ elements were associated with AML progression, while pre-treatment lymphocytic infiltrate was linked to better therapy response. Post-treatment blast count, lymphocytic infiltrate, and p53+ elements showed significant correlations with prognosis and treatment response.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Hematology
Elia Apodaca-Chavez, Roberta Demichelis-Gomez, Adriana Rosas-Lopez, Nancy R. Mejia-Dominguez, Isabela Galvan-Lopez, Meghan Addorosio, Kevin J. Tracey, Sergio Ivan Valdes-Ferrer
Summary: This study found that circulating HMGB1 is increased in patients with MDS. HMGB1 may be involved in MDS and could serve as a druggable target for reducing inflammation in MDS.
THERAPEUTIC ADVANCES IN HEMATOLOGY
(2022)
Article
Medicine, General & Internal
Tatiana Raskovalova, Laura Scheffen, Marie-Christine Jacob, Simon Chevalier, Sylvie Tondeur, Benedicte Bulabois, Mathieu Meunier, Gautier Szymanski, Christine Lefebvre, Charlotte Planta, Chantal Dumestre-Perard, Nicolas Gonnet, Frederic Garban, Raymond Merle, Sophie Park, Jose Labarere
Summary: This study aims to compare the accuracy and agreement between a single-use dry reagent and a liquid reagent in quantifying peripheral blood neutrophil myeloperoxidase expression in suspected MDS patients.
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
Radiology, Nuclear Medicine & Medical Imaging
Zhaolong Zeng, Xiangzheng Ma, Yifan Guo, Baodong Ye, Maosheng Xu, Wei Wang
Summary: IDEAL-IQ imaging can quantify fat fraction and iron content in bone marrow, aiding in distinguishing between patients with aplastic anemia and myelodysplastic syndrome.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2021)
Article
Allergy
Sarah K. Baxter, Tom Walsh, Silvia Casadei, Mary M. Eckert, Eric J. Allenspach, David Hagin, Gesmar Segundo, Ming K. Lee, Suleyman Gulsuner, Brian H. Shirts, Kathleen E. Sullivan, Michael D. Keller, Troy R. Torgerson, Mary-Claire King
Summary: This study identified damaging germline mutations in 27 genes in about 39% of patients with childhood-onset immune dysregulation, polyendocrinopathy, and enteropathy. Many of these genes had not been previously associated with the disease. Genetic diagnoses of these patients have clinical implications and can potentially alter therapeutic management, providing targeted treatments and recommendations for hematopoietic cell transplantation.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Michal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, Aviva Fattal, Adi Aran, Alla Kuzminsky, Liora Sagi, Dafna Guttman, Nira Schneebaum Sender, Varda Gross-Tsur, Tehila Klopstock, Tom Walsh, Paul Renbaum, Sharon Zeligson, Lilach Shemer Meiri, Dorit Lev, Dorit Shmueli, Luba Blumkin, Amnon Lahad, Mary-Claire King, Ephrat Lahad Levy, Reeval Segel
Summary: Patients with cryptogenic cerebral palsy had a 58% yield of clinically significant genetic findings through chromosomal microarray and trio whole exome sequencing, with a majority of the mutations being de novo. Those with comorbidities had a higher yield compared to those with pure motor CP. Genetic diagnoses were more common in patients with congenital anomalies or major dysmorphic features, with trio WES showing a higher yield than CMA in overall cases.
JOURNAL OF MEDICAL GENETICS
(2022)
Letter
Oncology
Jamie Heather Oakley, Dean R. Campagna, Liang Sun, Shira Rockowitz, Piotr Sliz, Jeanne Boudreaux, Gary Woods, Mark D. Fleming
PEDIATRIC BLOOD & CANCER
(2022)
Article
Hematology
Edward L. Snyder, Allison P. Wheeler, Majed Refaai, Claudia S. Cohn, Jessica Poisson, Magali Fontaine, Mary Sehl, Ajay K. Nooka, Lynne Uhl, Philip Spinella, Maly Fenelus, Darla Liles, Thomas Coyle, Joanne Becker, Michael Jeng, Eric A. Gehrie, Bryan R. Spencer, Pampee Young, Andrew Johnson, Jennifer J. O'Brien, Gary J. Schiller, John D. Roback, Elizabeth Malynn, Ronald Jackups, Scott T. Avecilla, Jin-Sying Lin, Kathy Liu, Stanley Bentow, Ho-Lan Peng, Jeanne Varrone, Richard J. Benjamin, Laurence M. Corash
Summary: Compared with conventional platelet components (CPC), pathogen reduction of platelet components (PRPC) shows a higher level of safety and significantly reduces the incidence of treatment-emergent assisted mechanical ventilation (TEAMV).
Article
Pediatrics
Patrick DeMoss, Nancy Tang, Kristen Yeom, Audris Chiang, Ann L. Marqueling, Michael R. Jeng
Summary: Xanthoma disseminatum is a rare skin disease characterized by red-brown plaque-like lesions. It can also affect mucosal linings, the central nervous system, and endocrine system. We report a case of a 12-year-old patient with gastrointestinal issues and central nervous system involvement, who showed significant improvement after treatment.
CASE REPORTS IN PEDIATRICS
(2022)
Article
Immunology
Tal Freund, Sarah K. Baxter, Tom Walsh, Hana Golan, Joseph Kapelushnik, Michal Abramsohn-Goldenberg, Shira Benor, Nadav Sarid, Ron Ram, Yifat Alcalay, Reeval Segel, Paul Renbaum, Polina Stepensky, Mary-Claire King, Troy R. Torgerson, David Hagin
Summary: Pathogenic variants in the LRBA gene can lead to diverse clinical symptoms with variable disease severity. A founder allele of the LRBA gene was found in the Georgian Jewish population and may be associated with increased susceptibility to malignancies.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Behavioral Sciences
Lauren Clarke, Olena Zyga, Psalm L. Pineo-Cavanaugh, Michael Jeng, Nancy J. Fischbein, Sonia Partap, Laurence Katznelson, Karen J. Parker
Summary: Disorders involving hypothalamic and pituitary structures can disrupt brain and endocrine function, leading to socio-behavioral dysfunction. Research suggests that disruptions in neuropeptide signaling contribute to the socio-behavioral deficits experienced by patients with these disorders.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Diego Hernando, Ruiyang Zhao, Qing Yuan, Mounes Aliyari Ghasabeh, Stefan Ruschke, Xinran Miao, Dimitrios C. Karampinos, Lu Mao, David T. Harris, Ryan J. Mattison, Michael R. Jeng, Ivan Pedrosa, Ihab R. Kamel, Shreyas Vasanawala, Takeshi Yokoo, Scott B. Reeder
Summary: This study evaluated the reproducibility of liver iron concentration (LIC) measurement using single-breath-hold R2* MRI at 1.5 T and 3.0 T. The results showed that R2* MRI has high reproducibility for LIC estimation across different MRI scanners from different vendors.
Article
Pharmacology & Pharmacy
Jami Wang, Mollie F. F. Qian, Michael R. Jeng, Joyce M. C. Teng
Summary: In this study, it was found that 47.2% of VM patients and 45.4% of control patients utilized hormonal contraceptives during the study period. Despite the increased baseline odds of hypercoagulopathy in VM patients, the use of contraceptives was not associated with an increased odds of hypercoagulation in VM patients.
CLINICAL DRUG INVESTIGATION
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Lucia Baratto, Ramyashree Nyalakonda, Ashok J. J. Theruvath, Amir Hossein Sarrami, Kristina Elizabeth Hawk, Ali Rashidi, Sa Shen, Lisa States, Mariam Aboian, Michael Jeng, Heike E. E. Daldrup-Link
Summary: This study assessed and compared the diagnostic accuracy of whole-body DW-MRI with 2-[F-18]FDG PET for staging and treatment monitoring of children with Langerhans cell histiocytosis (LCH), and found that WB DW-MRI has similar accuracy to 2-[F-18]FDG PET.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Ruiyang Zhao, Julia Velikina, Scott B. Reeder, Shreyas Vasanawala, Michael Jeng, Diego Hernando
Summary: This study evaluated the feasibility and performance of liver QSM-BLS at 1.5 T and 3.0 T using different iron levels and acquisition protocols. High correlation and reproducibility were observed between QSM-BLS and SQUID-BLS across protocols and field strengths. Therefore, QSM-BLS may enable reliable and reproducible quantification of liver iron concentration.
MAGNETIC RESONANCE IN MEDICINE
(2023)
Article
Oncology
Elissa R. Engel, Adrienne Hammill, Denise Adams, Roderic J. Phillips, Michael Jeng, Megha M. Tollefson, Ionela Iacobas, Deborah Schiff, Shoshana Greenberger, Michael Kelly, Ilona Frieden, Nibal Zaghloul, Beth Drolet, Amy Geddis, Dov Goldenberg, Kiersten Ricci
Summary: Sirolimus therapy is safe and effective in reducing complications and improving quality of life in patients with capillary lymphatic venous malformations and associated syndromes.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Otorhinolaryngology
Ryan J. Carlson, Tom Walsh, Jessica B. Mandell, Amal Aburayyan, Ming K. Lee, Suleyman Gulsuner, David L. Horn, Henry C. Ou, Kathleen C. Y. Sie, Lisa Mancl, Jay Rubinstein, Mary-Claire King
Summary: Most childhood-onset bilateral sensorineural hearing loss in the US is genetic. The study aimed to identify the genetic causes of hearing loss, assess its severity and progression, and evaluate cochlear implant success based on genotype. The results suggest that genetic diagnosis can now be integrated into precision medical care for childhood-onset hearing loss.
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY
(2023)
Meeting Abstract
Oncology
Michael Jeng, Lucia Baratto, Ramya Nyalakonda, Ashok Theruvath, Ali Rashidi, Vandana Sundaram, Lisa States, Mariam Aboian, Heike E. Daldrup-Link
PEDIATRIC BLOOD & CANCER
(2023)