Review
Oncology
A. M. Brandow, R. I. Liem
Summary: Sickle cell disease is a genetic disorder characterized by red blood cell deformation and end-organ damage. This review discusses advances in the diagnosis and management of major complications, as well as the latest developments in disease-modifying and curative therapies.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2022)
Article
Chemistry, Medicinal
Zheng-Sheng Lai, Teng-Kuang Yeh, Yu-Chi Chou, Tsu Hsu, Cheng-Tai Lu, Fang-Chun Kung, Ming-Yen Hsieh, Chun-Hung Lin, Chiung-Tong Chen, Che-Kun James Shen, Weir-Torn Jiaang
Summary: A more potent inducer, compound 13a, was discovered in this study, which can efficiently induce gamma-globin gene expression at non-cytotoxic concentrations and ameliorate anemia and related symptoms in SCD mice through oral administration.
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY
(2021)
Article
Multidisciplinary Sciences
Neha Kargutkar, Madhavi Sawant-Mulay, Priya Hariharan, S. Chandrakala, Anita Nadkarni
Summary: Hydroxyurea (HU) is beneficial in sickle cell anaemia (SCA) patients by increasing foetal haemoglobin (HbF), but the response varies. The role of miRNA in HbF regulation has been minimally investigated. In this study, miRNA expression and HbF induction were evaluated in relation to HU therapy. After 3 months of HU therapy, HbF levels increased significantly. Several miRNAs were up-regulated or down-regulated after HU therapy, and certain miRNAs were strongly associated with HbF induction. The study suggests that miR-210, miR16-1, miR-29a, and miR-96 play a role in regulating the gamma-globin gene and HbF induction.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
El Hadji Malick Ndour, Khuthala Mnika, Fatou Gueye Tall, Moussa Seck, Indou Deme Ly, Victoria Nembaware, Gaston Kuzamunu Mazandu, Helene Ange Therese Sagna Bassene, Rokhaya Dione, Aliou Abdoulaye Ndongo, Jean Pascal Demba Diop, Nene Oumou Kesso Barry, Moustapha Djite, Rokhaya Ndiaye Diallo, Papa Madieye Gueye, Saliou Diop, Ibrahima Diagne, Aynina Cisse, Ambroise Wonkam, Philomene Lopez Sall
Summary: This study showed a relatively high proportion of sickle cell nephropathy among patients living with sickle cell anemia in Senegal. Microglucosuria, proteinuria, tubular proteinuria, microalbuminuria, hyposthenuria, and glomerular hyperfiltration were the most prevalent biomarkers of nephropathy in this group of Senegalese patients with sickle cell anemia.
Article
Hematology
Nancy S. Green, Andrew Zapfel, Obiageli E. Nnodu, Patience Franklin, Venee N. Tubman, Lulu Chirande, Charles Kiyaga, Catherine Chunda-Liyoka, Bernard Awuonda, Kwaku Ohene-Frempong, Baba P. D. Inusa, Russell E. Ware, Isaac Odame, Emmanuela E. Ambrose, Livingstone G. Dogara, Assaf P. Oron, Chase Willett, Alexis A. Thompson, Nancy Berliner, Theresa L. Coetzer, Enrico M. Novelli
Summary: Sickle cell disease is a common condition in sub-Saharan Africa with high under-5 mortality. The American Society of Hematology established the Consortium on Newborn Screening in Africa (CONSA) to implement standardized newborn hemoglobinopathy screening and early intervention. The primary objectives of the trial are to determine the birth incidence of SCD and assess the effectiveness of early standardized care in reducing mortality. Secondary objectives include establishing universal screening and interventions and evaluating trial implementation.
Article
Biochemical Research Methods
Utku Goreke, Allison Bode, Sena Yaman, Umut A. Gurkan, Naside Gozde Durmus
Summary: This study developed a magnetic levitation-based assay for rapid and accurate analysis of density changes in red blood cells during disease states. By measuring the density of individual red blood cells, researchers identified different sub-populations of cells in blood samples from individuals with sickle cell disease, providing a method for further investigating blood cell disorders and the effects of therapies.
Review
Medicine, General & Internal
Raffaella Colombatti, Inga Hegemann, Morten Medici, Camilla Birkegard
Summary: Sickle cell disease is a genetic disorder with a high prevalence in sub-Saharan Africa, the Mediterranean basin, the Middle East, and India. A systematic literature review identified 115 publications on SCD epidemiology, showing highest prevalence in Africa, the Middle East, and India, and lowest in Europe. The study revealed a lack of systematic knowledge and the need for uniform data collection on SCD prevalence and mortality.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Hematology
Sara El Hoss, Wassim El Nemer, David C. Rees
Summary: Sickle cell disease (SCD) is characterized by variable clinical outcomes, with potential for precision medicine to select different treatments for different patient groups. However, challenges in identifying prognostic groups and available treatments limit the application of precision medicine in SCD.
Review
Chemistry, Medicinal
Rayan Bou-Fakhredin, Lucia De Franceschi, Irene Motta, Maria Domenica Cappellini, Ali T. Taher
Summary: Better understanding of gamma-globin regulation has led to advancements in pharmacologic agents for HbF induction and identification of novel HbF-inducing strategies.
Article
Medicine, General & Internal
Malavika Shankar, Nicole Gousy, Tutul Chowdhury
Summary: Sickle cell disease variants can present as life-threatening complications or milder symptoms. Early investigation of these symptoms may reduce the risk of severe complications.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Review
Medicine, Research & Experimental
Ibrahim Khamees, Fateen Ata, Hassan Choudry, Ashraf T. Soliman, Vincenzo De Sanctis, Mohamed A. Yassin
Summary: Sickle cell disease is commonly encountered in Africa and the Middle East, leading to a spectrum of clinical manifestations and complications. Studies on a rare genotypic variant, HBSE, show both benign and severe complications, including vaso-occlusive crises and strokes.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Review
Hematology
Jean-Antoine Ribeil, Galia Pollock, Haydar Frangoul, Martin H. Steinberg
Summary: Hydroxyurea is the first approved drug for sickle cell disease, showing excellent effects in young children but variable responses in adults. The goal of pharmacotherapy is to reduce morbidity and mortality by preventing sickle hemoglobin polymerization and disrupting downstream pathophysiologic pathways. Maximal doses of hydroxyurea are recommended, and when insufficient, voxelotor and crizanlizumab can be added. Combination therapy may be necessary in poor responders to monotherapy or dual-drug therapy, considering the potential of cellular therapeutics and exchange transfusion programs.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Hematology
Melanie E. Fields, Amy E. Mirro, Michael M. Binkley, Kristin P. Guilliams, Josiah B. Lewis, Slim Fellah, Yasheng Chen, Monica L. Hulbert, Hongyu An, Andria L. Ford, Jin-Moo Lee
Summary: This study found that children with sickle cell anemia (SCA) experience elevated oxygen extraction fraction (OEF) in the whole brain compared to anemic controls (AC) and healthy controls (HC). After controlling for the impact of anemia, SCA patients still show higher OEF levels, indicating that there may be other pathophysiological factors contributing to cerebral metabolic stress in these children.
AMERICAN JOURNAL OF HEMATOLOGY
(2022)
Article
Hematology
Maria A. Ruiz, Binal N. Shah, Guohui Ren, Faiz Hussain, Franklin Njoku, Roberto F. Machado, Victor R. Gordeuk, Santosh L. Saraf
Summary: This study finds that different isoforms of the Haptoglobin gene are associated with cell-free hemoglobin concentrations and complications related to sickle cell disease. The HP 1 allele is associated with higher Haptoglobin concentrations and lower cell-free hemoglobin concentrations, as well as a lower risk of multiorgan failure during acute chest syndrome.
Article
Hematology
Seda S. Tolu, Andrew Crouch, Jaeun Choi, Qi Gao, Moramaya Reyes-Gil, Ugochi Olivia Ogu, Giacomo Vinces, Caterina P. Minniti
Summary: The presence of leg ulcers in individuals with sickle cell disease often indicates early signs of vasculopathy and future organ damage. HbF levels are associated with lower leg ulcer incidence, while hydroxyurea use is correlated with higher risk. Therefore, caution should be taken when considering hydroxyurea therapy in SCD patients with leg ulcers.
ANNALS OF HEMATOLOGY
(2022)
Review
Biotechnology & Applied Microbiology
Germana Castelli, Elvira Pelosi, Ugo Testa
ONCOTARGETS AND THERAPY
(2018)
Article
Oncology
Emiliano Fabiani, Giulia Falconi, Nelida Ines Noguera, Ernestina Saulle, Laura Cicconi, Mariadomenica Divona, Cristina Banella, Alessandra Picardi, Anna Maria Cerio, Letizia Boe, Massimo Sanchez, Elvira Pelosi, Ugo Testa, Francesco Lo-Coco, Maria Teresa Voso
Review
Hematology
Domenico Mastrangelo, Elvira Pelosi, Germana Castelli, Francesco Lo-Coco, Ugo Testa
BLOOD CELLS MOLECULES AND DISEASES
(2018)
Review
Respiratory System
Alice Huertas, Christophe Guignabert, Joan A. Barbera, Peter Baertsch, Jahar Bhattacharya, Sunita Bhattacharya, Maria R. Bonsignore, Laurence Dewachter, Anh Tuan Dinh-Xuan, Peter Dorfmuller, Mark T. Gladwin, Marc Humbert, Tom Kotsimbos, Theodoros Vassilakopoulos, Olivier Sanchez, Laurent Savale, Ugo Testa, Martin R. Wilkins
EUROPEAN RESPIRATORY JOURNAL
(2018)
Review
Oncology
Ugo Testa, Germana Castelli, Elvira Pelosi
Review
Oncology
Germana Castelli, Elvira Pelosi, Ugo Testa
Review
Oncology
Ugo Testa, Germana Castelli, Elvira Pelosi
Review
Biochemistry & Molecular Biology
Ugo Testa, Germana Castelli, Elvira Pelosi
Article
Oncology
Cristina Banella, Gianfranco Catalano, Serena Travaglini, Elvira Pelosi, Tiziana Ottone, Alessandra Zaza, Gisella Guerrera, Daniela Francesca Angelini, Pasquale Niscola, Mariadomenica Divona, Luca Battistini, Maria Screnci, Emanuele Ammatuna, Ugo Testa, Clara Nervi, Maria Teresa Voso, Nelida Ines Noguera
Summary: Acute Myeloid Leukemias (AMLs) are rapidly progressing and clonal neoplastic diseases. In this study, the metabolic background of AML cells was characterized, and the combination of ascorbate and buformin was shown to be a potential innovative therapeutic option for elderly AML patients resistant to traditional therapy.
Review
Biochemistry & Molecular Biology
Elvira Pelosi, Germana Castelli, Ugo Testa
Summary: Despite progress in basic research and clinical treatment, acute myeloid leukemia (AML) remains a clinical need for patients of all ages. CD123 is a protein found in certain leukemia cells and is a potential target for therapy due to its higher expression in leukemic cells compared to normal cells. Various drugs targeting CD123, such as antibody-drug conjugates and CAR T cells, have shown promise in clinical trials for AML and other hematologic malignancies. However, more effective therapeutic strategies and combination treatments are needed to improve the outcomes of patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Oncology
Ugo Testa, Germana Castelli, Elvira Pelosi
Summary: ALK is a potent oncogenic driver of lung adenocarcinoma and can be targeted with drugs to improve patient outcomes. However, resistance mechanisms limit the durability of the therapeutic effects. New therapeutic strategies are being investigated to overcome this resistance.
Review
Biochemistry & Molecular Biology
Ugo Testa, Elvira Pelosi, Germana Castelli
Summary: The current classification of acute myeloid leukemia (AML) relies on genomic alterations. AML with mutated nucleophosmin 1 (NPM1-mut) is the largest genetically defined group, accounting for about 30% of adult AMLs and is recognized as a distinct entity in the current AML classifications. NPM1-mut AML is usually associated with a normal karyotype and relatively favorable prognosis, but it is genetically, transcriptionally, and phenotypically heterogeneous. Recent studies highlight the need for additional stratification to improve therapeutic response for different subgroups of NPM1-mut AML patients.
Review
Oncology
Ugo Testa, Elvira Pelosi, Germana Castelli
Summary: Cholangiocarcinomas (CCAs) are heterogeneous epithelial malignancies that can be found at any location of the biliary tree. Recent studies have identified risk factors, molecular abnormalities, and potential cells of origin that contribute to the heterogeneity of CCAs. While therapeutic progress is limited, understanding the molecular mechanisms underlying CCA may lead to more effective treatment strategies.
TECHNOLOGY IN CANCER RESEARCH & TREATMENT
(2023)
Review
Oncology
Ugo Testa, Germana Castelli, Elvira Pelosi
Summary: Esophageal cancer is a common tumor with poor outcomes, with two main histological subtypes: ESCC and EAC. Molecular analysis has revealed complex genetic alterations that differ between ESCC and EAC. Recent identification of molecular subtypes in ESCC may lead to new therapeutic strategies. Additionally, immunotherapy with ICIs has shown promise in improving overall survival of advanced ESCC patients.
Review
Biochemistry & Molecular Biology
Elvira Pelosi, Germana Castelli, Ugo Testa