Review
Medicine, General & Internal
Sholhui Park, Min-Kyung So, Min-Sun Cho, Dae-Young Kim, Jungwon Huh
Summary: Primary myelofibrosis (PMF) and paroxysmal nocturnal hemoglobinuria (PNH) are rare diseases, and having both at the same time is uncommon. A case with PMF and PNH with JAK2 V617F, U2AF1 and SETBP1 mutations is reported, highlighting the complex nature of these diseases and genetic mutations. Further research is needed to fully understand the clinical significance and genetic associations of the mutations found in this patient.
Article
Hematology
Roni Tamari, Donal P. Mclornan, Kwang Woo Ahn, Noel Estrada-Merly, Juan Carlos Hernandez-Boluda, Sergio Giralt, Jeanne Palmer, Robert Peter Gale, Zachariah Defilipp, David I. Marks, Marjolein van der Poel, Leo F. Verdonck, Minoo Battiwalla, Miguel Angel Diaz, Vikas Gupta, Haris Ali, Mark Robert Litzow, Hillard M. Lazarus, Usama Gergis, Asad Bashey, Jane Liesveld, Shahrukh Hashmi, Jeffrey J. Pu, Amer Beitinjaneh, Christopher Bredeson, David Rizzieri, Bipin N. Savani, Muhammad Bilal Abid, Siddhartha Ganguly, Vaibhav Agrawal, Vera Ulrike Bacher, Baldeep Wirk, Tania Jain, Corey Cutler, Mahmoud Aljurf, Tamila Kindwall-Keller, Mohamed A. Kharfan-Dabaja, Gerhard C. Hildebrandt, Attaphol Pawarode, Melhem M. Solh, Jean A. Yared, Michael R. Grunwald, Sunita Nathan, Taiga Nishihori, Sachiko Seo, Bart L. Scott, Ryotaro Nakamura, Betul Oran, Tomasz Czerw, Ibrahim Yakoub-Agha, Wael Saber
Summary: A prognostic model was developed for myelofibrosis patients undergoing allogeneic hematopoietic cell transplantation. Factors such as patient age, donor compatibility, and hemoglobin levels were found to be associated with mortality risk. The proposed scoring system could accurately predict overall survival and transplant-related mortality in two large cohorts.
Article
Medicine, Research & Experimental
Yongming Xia, Qingxiao Hong, Zhibin Gao, Shijun Wang, Shiwei Duan
Summary: Familial myeloproliferative disease accounts for 7.6% of global cases, with two cases of primary myelofibrosis reported in this study. Genetic analysis revealed both sisters carried JAK2 V617F mutation, with no sex dimorphism in mutation prevalence. JAK2 V617F was identified as a risk factor for PMF, yet no association with PMF-related mortality was found.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2021)
Article
Multidisciplinary Sciences
Dzhuliia Dzhalilova, Anna Kosyreva, Anastasiya Lokhonina, Ivan Tsvetkov, Polina Vishnyakova, Olga Makarova, Timur Fatkhudinov
Summary: Individual hypoxia tolerance plays a significant role in the development and outcome of infectious and inflammatory diseases. Macrophages, which are involved in systemic inflammatory response and immune reactions, are regulated by hypoxia inducible factors (HIFs). The expression levels of HIF-1 and the severity of systemic inflammatory response induced by lipopolysaccharide (LPS) have been shown to correlate with hypoxia tolerance. In this study, the molecular and functional characterization of non-activated and LPS-activated macrophages in rats with different tolerance to oxygen deprivation were compared. The results revealed differences in gene expression patterns and pro-inflammatory macrophage polarization between hypoxia-tolerant and hypoxia-susceptible rats.
Article
Psychology, Clinical
Y. Nina Gao, Brandon Coombes, Euijung Ryu, Vanessa Pazdernik, Gregory Jenkins, Richard Pendegraft, Joanna Biernacka, Mark Olfson
Summary: This study compares patients diagnosed with depression without anxiety, anxiety without depression, or both depression and anxiety, and identifies differences in the clinically observable phenome between these groups. The results show that patients diagnosed with depression only are more likely to have diagnoses of obesity, sleep apnea, and type II diabetes, while patients diagnosed with anxiety only are more likely to have diagnoses of palpitations, benign skin neoplasms, and cardiac dysrhythmias. Patients with comorbid depression and anxiety have higher rates of other mental health disorders, substance use disorders, sleep problems, and gastroesophageal reflux.
PSYCHOLOGICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Mariarita Spampinato, Cesarina Giallongo, Alessandra Romano, Lucia Longhitano, Enrico La Spina, Roberto Avola, Grazia Scandura, Ilaria Dulcamare, Vincenzo Bramanti, Michelino Di Rosa, Nunzio Vicario, Rosalba Parenti, Giovanni Li Volti, Daniele Tibullo, Giuseppe A. Palumbo
Summary: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterized by clonal proliferation of hematopoietic stem cells leading to bone marrow fibrosis. The main consequences of PMF include neoangiogenesis, megakaryocytes hyperplasia, extensive bone marrow fibrosis, osteosclerosis, and bone damage. The involvement of cytokines, growth factors, and resident cells in the bone marrow microenvironment are linked to disease progression in PMF.
Review
Oncology
Yangjing Zhao, Weili Cai, Ye Hua, Xiaochen Yang, Jingdong Zhou
Summary: U2AF1 mutation is an important genetic driver event in myelodysplastic syndromes and myeloid malignancies, impacting hematopoiesis, tumor progression, disease prognosis, and leukemic transformation. This review provides a comprehensive overview of the oncogenic role of U2AF1 mutation in myeloid tumors and highlights its potential as a prognostic biomarker and therapeutic target.
Article
Genetics & Heredity
Manuel A. Viamonte, Stephanie L. Filipp, Zara Zaidi, Matthew J. Gurka, Barry J. Byrne, Peter B. Kang
Summary: Research on Pompe disease has shown that different types of GAA gene variants are significantly associated with disease subtype, cardiomyopathy, age at diagnosis, and gross motor function. Multiple types of splice site variants beyond the classic one are often linked to milder phenotypes. Enzyme activity levels remain useful for supporting diagnosis when genetic variants are unclear.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Hematology
Sangeetha Venugopal, John Mascarenhas
Summary: Myelofibrosis (MF) can lead to splenomegaly and thrombocytopenia. Currently approved JAK1/2 inhibitors have not been evaluated in patients with platelets <= 50 x 109/L. Pacritinib (PAC), a selective JAK2 inhibitor, has shown efficacy in MF patients, especially in splenic response and symptom improvement.
Article
Hematology
Francesco Mannelli, Sara Bencini, Giacomo Coltro, Giuseppe G. Loscocco, Benedetta Peruzzi, Giada Rotunno, Chiara Maccari, Francesca Gesullo, Miriam Borella, Chiara Paoli, Roberto Caporale, Carmela Mannarelli, Francesco Annunziato, Paola Guglielmelli, Alessandro M. Vannucchi
Summary: This study focused on prognostic modeling in myelofibrosis, incorporating multiparameter flow cytometry (MFC) to enhance existing scores and refine prognostic stratification. By adapting the Ogata score with MFC-derived parameters, the study found improved patient categorization and outperformance of established models, indicating the potential for MFC to aid in refining prognostic strategies for myelofibrosis.
AMERICAN JOURNAL OF HEMATOLOGY
(2022)
Article
Hematology
Damien Luque Paz, Jeremie Riou, Emmanuelle Verger, Bruno Cassinat, Aurelie Chauveau, Jean-Christophe Ianotto, Brigitte Dupriez, Francoise Boyer, Maxime Renard, Olivier Mansier, Anne Murati, Jerome Rey, Gabriel Etienne, Veronique Mansat-De Mas, Suzanne Tavitian, Olivier Nibourel, Stephane Girault, Yannick Le Bris, Francois Girodon, Dana Ranta, Jean-Claude Chomel, Pascale Cony-Makhoul, Pierre Sujobert, Margot Robles, Raouf Ben Abdelali, Olivier Kosmider, Laurane Cottin, Lydia Roy, Ivan Sloma, Fabienne Vacheret, Mathieu Wemeau, Pascal Mossuz, Borhane Slama, Vincent Cussac, Guillaume Denis, Anouk Walter-Petrich, Barbara Burroni, Nathalie Jezequel, Stephane Giraudier, Eric Lippert, Gerard Socie, Jean-Jacques Kiladjian, Valerie Ugo
Summary: This study identified four genomic groups associated with the prognosis of myelofibrosis, with TP53 and high-risk groups showing significant associations with leukemic transformation and death from myelofibrosis. ASXL1 mutations alone were found to have no prognostic value but worsened the prognosis when associated with other high-risk mutations.
Article
Oncology
Talha Badar, Yenny A. Moreno Vanegas, Ahmad Nanaa, James M. Foran, Aref Al-Kali, Abhishek Mangaonkar, Hemant Murthy, Hassan B. Alkhateeb, David Viswanatha, Rong He, Mithun Shah, Cecilia Arana Yi, Mark R. Litzow, Naseema Gangat, Ayalew Tefferi, Mrinal M. Patnaik
Summary: This study investigates the genotypic and prognostic heterogeneity of U2AF1 mutations in myelofibrosis and myelodysplastic syndromes. The results suggest that U2AF1 mutations can co-occur with other mutations and have different impacts on prognosis. Concurrent mutations and specific U2AF1 mutation types were found to be associated with different prognostic outcomes.
BLOOD CANCER JOURNAL
(2023)
Article
Multidisciplinary Sciences
Federico Scala, Dmitry Kobak, Matteo Bernabucci, Yves Bernaerts, Cathryn Rene Cadwell, Jesus Ramon Castro, Leonard Hartmanis, Xiaolong Jiang, Sophie Laturnus, Elanine Miranda, Shalaka Mulherkar, Zheng Huan Tan, Zizhen Yao, Hongkui Zeng, Rickard Sandberg, Philipp Berens, Andreas S. Tolias
Summary: The study combines single-cell transcriptomic, morphological, and electrophysiological characteristics to classify over 1,300 neurons from the mouse motor cortex, revealing extreme diversity in gene expression, morphology, and electrophysiology. While broad families of transcriptomic types exhibit distinct morpho-electric phenotypes, individual transcriptomic types within the same family show a continuum of variability in morphology and electrophysiology without clear boundaries between them, indicating that neuronal types in the neocortex do not always form discrete entities.
Article
Oncology
Martin I. Castillo, Villamon E. Ribate, Calabuig M. Munoz, Sanz G. Santillana, Such E. Taboada, Mora E. Castera, Calasanz M. J. Abinzano, Irigoyen A. Barranco, Collado R. Nieto, Vara M. Pampliega, M. L. Blanco, Alvarez S. de Andres, Perez J. de Oteyza, Bernal T. del Castillo, Granada I. Font, Jerez A. Cayuela, M. Diez-Campelo, Abellan R. Sanchez, Solano C. Vercet, Tormo M. Diaz
Summary: This study analyzes different molecular variables in 100 MDS patients with isolated del(20q), and finds that U2AF1 mutations and other alterations have a negative prognostic impact on patients. Additionally, mutations in the ASXL1 gene are identified as a prognostic marker, which could benefit patients in receiving earlier treatment.
Review
Medicine, General & Internal
Andrea Duminuco, Antonella Nardo, Gaetano Giuffrida, Salvatore Leotta, Uros Markovic, Cesarina Giallongo, Daniele Tibullo, Alessandra Romano, Francesco Di Raimondo, Giuseppe A. Palumbo
Summary: Among myeloproliferative diseases, myelofibrosis has a highly variable prognosis, and several prognostic models have been proposed to categorize patients effectively, such as IPSS, DIPSS, and MYSEC-PM. Recently, new models like MIPSS-70, GIPSS, and RR6 have been developed and validated using new diagnostic techniques and the use of JAK inhibitor drugs. The new frontier of artificial intelligence may enable the creation of models that provide an overall survival perspective for each patient.
JOURNAL OF CLINICAL MEDICINE
(2023)
