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JOURNAL ARTICLE
Takahiro Hirai, Minehiko Inomata, Shuhei Minatoyama, Moe Hashizume, Naoki Takata, Kana Hayashi, Zenta Seto, Kotaro Tokui, Chihiro Taka, Seisuke Okazawa, Kenta Kambara, Shingo Imanishi, Toshiro Miwa, Ryuji Hayashi, Shinichi Tanaka, Akira Noguchi, Tsutomu Sato
BACKGROUND/AIM: Immune checkpoint inhibitors can induce immune-related adverse events in various organs, thus careful observation is required. CASE REPORT: A 69-year-old man was diagnosed with advanced lung adenocarcinoma and treated with combined therapy of carboplatin plus pemetrexed plus pembrolizumab. After two cycles of treatment, anemia was noted. Myelosuppression due to cytotoxic anticancer agents was suspected and the cytotoxic agents were discontinued, followed by three courses of pembrolizumab monotherapy...
2024: In Vivo
#2
JOURNAL ARTICLE
Raquel Alves, Ana Pires, Joana Jorge, Joana Balça-Silva, Ana Cristina Gonçalves, Ana Bela Sarmento-Ribeiro
The role of metalloproteinases (MMPs) in hematological malignancies, like acute myeloid leukemia (AML), myelodysplastic neoplasms (MDS), and multiple myeloma (MM), is well-documented, and these pathologies remain with poor outcomes despite treatment advancements. In this study, we investigated the effects of batimastat (BB-94), an MMP inhibitor (MMPi), in single-administration and daily administration schemes in AML, MDS, and MM cell lines. We used four hematologic neoplasia cell lines: the HL-60 and NB-4 cells as AML models, the F36-P cells as an MDS model, and the H929 cells as a model of MM...
April 22, 2024: International Journal of Molecular Sciences
#3
JOURNAL ARTICLE
Ioannis Panagopoulos, Kristin Andersen, Vidar Stavseth, Synne Torkildsen, Sverre Heim, Maren Randi Tandsæther
BACKGROUND/AIM: Constitutional chromosomal aberrations are rare in hematologic malignancies and their pathogenetic role is mostly poorly understood. We present a comprehensive molecular characterization of a novel constitutional chromosomal translocation found in two siblings - sisters - diagnosed with myelodysplastic syndrome (MDS). MATERIALS AND METHODS: Bone marrow and blood cells from the two patients were examined using G-banding, RNA sequencing, PCR, and Sanger sequencing...
2024: Cancer Genomics & Proteomics
#4
JOURNAL ARTICLE
Dong Chen, Julia Geyer, Adam Bagg, Robert Hasserjian, Olga K Weinberg
INTRODUCTION: The classic Philadelphia chromosome-negative myeloproliferative neoplasms (Ph (-) MPNs), have variable potential for progression to the blast phase (MPN-BP) of the disease. Except initiated by distinct driver mutations, MPN-BP frequently carry similar genetic abnormalities defining acute myeloid leukemia myelodysplasia-related (AML-MR). Because of dissimilar initial pathogenesis, MPN-BP and AML-MR are retained under different disease categories. To determine if separately classifying these entities is justified, we compare MPN-BP with AML-MR patients based on mutational landscape and clinical parameters...
April 26, 2024: International Journal of Laboratory Hematology
#5
JOURNAL ARTICLE
Li-Mei Shang, Hui-Juan Chen, Yue Liu, Yang Cao, Feng Li, Yan-Ting Guo, Wei-Min Dong, Yan Lin, Wei-Ying Gu
OBJECTIVE: To explore the risk factors affecting the survival and efficacy of patients with acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) transformed from myelodysplastic syndrome (MDS). METHODS: The clinical data of 60 patients with AML-MRC transformed from MDS who hospitalized in The Third Affiliated Hospital of Soochow University from January 2010 to December 2021 were retrospectively analyzed. The demographic data and laboratory parameters, cytogenetic karyotypes, target genes of AML detected by next generation sequence, risk stratification, treatment regimen, therapeutic efficacy and survival outcome were documented...
April 2024: Zhongguo Shi Yan Xue Ye Xue za Zhi
#6
JOURNAL ARTICLE
Anoop K Enjeti, William E Fogler, Theodore A G Smith, Lisa F Lincz, Danielle R Bond, John L Magnani
The interaction of acute myeloid leukaemic (AML) blasts with the bone marrow (BM) microenvironment is a major determinant governing disease progression and resistance to treatment. The constitutive expression of E-selectin in the vascular compartment of BM, a key endothelial cell factor, directly mediates chemoresistance via E-selectin ligand/receptors. Despite the success of hypomethylating agent (HMA)-containing regimens to induce remissions in older AML patients, the development of primary or secondary resistance is common...
April 24, 2024: British Journal of Haematology
#7
REVIEW
Agnieszka Piekarska, Katarzyna Pawelec, Anna Szmigielska-Kapłon, Marek Ussowicz
Acquired aplastic anemia (AA) is an immune-mediated bone marrow (BM) failure where marrow disruption is driven by a cytotoxic T-cell-mediated autoimmune attack against hematopoietic stem cells. The key diagnostic challenge in children, but also in adults, is to exclude the possible underlying congenital condition and myelodysplasia. The choice of treatment options, either allogeneic hematopoietic cell transplantation (alloHCT) or immunosuppressive therapy (IST), depends on the patient's age, comorbidities, and access to a suitable donor and effective therapeutic agents...
2024: Frontiers in Immunology
#8
JOURNAL ARTICLE
Shanhui Liu, Kanak Joshi, Lei Zhang, Wenyan Li, Ryan Mack, Austin Runde, Patrick A Hagen, Kevin Barton, Peter Breslin, Hong-Long Ji, Ameet R Kini, Zhiping Wang, Jiwang Zhang
Myelodysplastic syndromes (MDS) are a heterogeneous group of pre-leukemic hematopoietic disorders characterized by cytopenia in peripheral blood due to ineffective hematopoiesis and normo- or hypercellularity and morphologic dysplasia in bone marrow (BM). An inflammatory BM microenvironment and programmed cell death of hematopoietic stem/progenitor cells (HSPCs) are thought to be the major causes of ineffective hematopoiesis in MDS. Pyroptosis, apoptosis and necroptosis (collectively, PANoptosis) are observed in BM tissues of MDS patients, suggesting an important role of PANoptosis in MDS pathogenesis...
April 18, 2024: Cell Death & Disease
#9
REVIEW
Blanca E R G Bica, Alexandre Wagner S de Souza, Ivânio Alves Pereira
Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse...
April 16, 2024: Advances in Rheumatology
#10
REVIEW
Hee Sue Park
Recently, the International Consensus Classification (ICC) and the 5th edition of the World Health Organization classification (WHO2022) introduced diagnostically similar yet distinct approaches, which has resulted in practical confusion. This review compares these classification systems for acute myeloid leukemia (AML), building up on the revised 4th edition of WHO (WHO2016). Both classifications retain recurrent genetic abnormalities as a primary consideration. However, they differ in terms of blast threshold...
April 15, 2024: Blood Research
#11
JOURNAL ARTICLE
Hippolyte Guerineau, Milena Kohn, Antoine Al Hamoud, Jacques Sellier, Jennifer Osman, Aurélie Cabannes-Hamy
We report the case of the youngest patient described with VEXAS syndrome associated with MDS-IB1, successfully treated with azacitidine-venetoclax and allogeneic stem cell transplant.
April 9, 2024: Annals of Hematology
#12
REVIEW
Ashley P Ng, Rebecca Adams, Ing Soo Tiong, Louise Seymour, Dipti Talaulikar, Emma Palfreyman, Anoop Enjeti, Courtney Tate
The classification of myeloid neoplasms continues to evolve along with advances in molecular diagnosis, risk stratification and treatment of disease. An approach for disease classification has been grounded in international consensus that has facilitated understanding, identification and management of molecularly heterogeneous entities, as well as enabled consistent patient stratification into clinical trials and clinical registries over time. The new World Health Organization (WHO) and International Consensus Classification (ICC) Clinical Advisory Committee releasing separate classification systems for myeloid neoplasms in 2022 precipitated some concern amongst haematopathology colleagues both locally and internationally...
March 19, 2024: Pathology
#13
JOURNAL ARTICLE
Judit Bedekovics, Kristóf Madarász, Attila Mokánszki, Sarolta Molnár, Ágnes Mester, Zsófia Miltényi, Gábor Méhes
AIMS: TP53 alterations have a significant prognostic effect in myeloid neoplasms. Our objective was to investigate the TP53 gene mutation status, p53 protein expression and their relationship in dysplasia-related myeloid neoplasms with varying levels of myeloblast counts. METHODS AND RESULTS: A total of 76 bone marrow biopsy samples with different blast counts were analysed. Total and strong (3+) p53 expression was determined. Dual immunohistochemical staining was performed to determine the cell population associated with p53 expression...
April 4, 2024: Histopathology
#14
JOURNAL ARTICLE
Begüm N Gökdemir, Nedim Çekmen
MIRAGE syndrome consists of Myelodysplasia, Infection, Growth restriction, Adrenal hypoplasia, Genital phenotypes, and Enteropathy. We report the uneventful anesthesia management of a 6-year-old female patient with MIRAGE syndrome. We think it can guide anesthesiologists caring for patients with this syndrome to find the appropriate method for them.
April 1, 2024: A&A Practice
#15
Elizabeth Martin, Elizabeth A VanSickle, Linda Z Rossetti
GATA2 and ZNF148 have both been mapped to chromosome 3q. Pathogenic variants in GATA2 have been associated with immunodeficiency and high risk for myelodysplasia, acute myeloid leukemia, and chronic myelomonocytic leukemia. Gain-of-function variants in ZNF148 have previously been suggested as a mechanism for agenesis of the corpus callosum (ACC). Here, we report a novel 10.4 Mb interstitial deletion on 3q12.33q22.1 including GATA2 and ZNF148 in a child with developmental delay, agenesis of the corpus callosum, and vertebral segmentation defects...
April 3, 2024: American Journal of Medical Genetics. Part A
#16
JOURNAL ARTICLE
Matthieu Groh, Laurène Fenwarth, Mathilde Labro, Augustin Boudry, Elise Fournier, Mathieu Wemeau, Alice Marceau-Renaut, Rafael Daltro de Oliveira, Julie Abraham, Marly Barry, Philippe Blanche, Quentin Bodard, Thorsten Braun, Safia Chebrek, Matthieu Decamp, Cécile-Audrey Durel, Edouard Forcade, Mathieu Gerfaud-Valentin, Camille Golfier, Clément Gourguechon, Nathalie Grardel, Olivier Kosmider, Nihal Martis, Sarah Melboucy Belkhir, Fatiha Merabet, Adrien Michon, Stéphane Moreau, Cécile Morice, Antoine Néel, Franck E Nicolini, Laurent Pascal, Florence Pasquier, Andrea Pieragostini, Catherine Roche-Lestienne, Philippe Rousselot, Louis Terriou, Anne Thiebaut-Bertrand, Jean-François Viallard, Claude Preudhomme, Jean-Emmanuel Kahn, Guillaume Lefevre, Nicolas Duployez
We investigated using a custom NGS panel of 149 genes the mutational landscape of 64 consecutive adult patients with tyrosine kinase fusion-negative hypereosinophilia (HE)/hypereosinophilic syndrome (HES) harboring features suggestive of myeloid neoplasm. At least one mutation was reported in 50/64 (78%) patients (compared to 8/44 (18%) patients with idiopathic HE/HES/HEUS used as controls; p < .001). Thirty-five patients (54%) had at least one mutation involving the JAK-STAT pathway, including STAT5B (n = 18, among which the hotspot N642H, n = 13), JAK1 (indels in exon 13, n = 5; V658F/L, n = 2), and JAK2 (V617F, n = 6; indels in exon 13, n = 2)...
April 2, 2024: American Journal of Hematology
#17
JOURNAL ARTICLE
Masoud Nasri, Malte Ritter, Perihan Mir, Benjamin Dannenmann, Masako M Kaufmann, Patricia Arreba-Tutusaus, Yun Xu, Natalia Borbaran-Bravo, Maksim Klimiankou, Claudia Lengerke, Cornelia Zeidler, Toni Cathomen, Karl Welte, Julia Skokowa
Severe congenital neutropenia (CN) is an inherited pre-leukemia bone marrow failure syndrome commonly caused by autosomal-dominant ELANE mutations (ELANE-CN). ELANE-CN patients are treated with daily injections of recombinant human granulocyte colony-stimulating factor (rhG-CSF). However, some patients do not respond to rhG-CSF, and approximately 15% of ELANE-CN patients develop myelodysplasia or acute myeloid leukemia. Here, we report the development of a curative therapy for ELANE-CN through inhibition of ELANE mRNA expression by introducing two single-strand DNA breaks at the opposing DNA strands of the ELANE promoter TATA-box using CRISPR/Cas9D10A nickases - termed MILESTONE...
March 30, 2024: Molecular Therapy
#18
JOURNAL ARTICLE
Daniela Ospina Cardona, Ignasi Rodriguez-Pinto, Sonia Iosim, Nuria Bonet, Anna Mensa-Vilaro, Mei-Kay Wong, Gary Ho, Marc Tormo, Jordi Yagüe, Wonwoo Shon, Daniel Wallace, Ferran Casals, David B Beck, Rachel Abuav, Juan I Arostegui
OBJECTIVE: The vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a complex immune disorder consequence of somatic UBA1 variants. Most reported pathogenic UBA1 variants are missense or splice site mutations directly impairing the translational start site at p. Met41, with recent studies showing that these variants are frequent causes of recurrent inflammation in older individuals. Here we aimed to characterize a novel UBA1 variant found in two patients clinically presenting with VEXAS syndrome...
March 29, 2024: Rheumatology
#19
JOURNAL ARTICLE
A G Timershin, D V Kreshchenok, S A Konovalov, P I Mironov
OBJECTIVE: To evaluate the clinical efficacy of long-term spinal and sacral programmable neurostimulation for pelvic organ dysfunction in patients with myelodysplasia and chronic dysfunction of the bladder and rectum. MATERIAL AND METHODS: A retrospective study included 32 children aged 1-17 years (mean 10.7) with myelodysplasia, pelvic organ dysfunction and ineffective therapy including botulinum therapy and exclusion of tethered spinal cord syndrome. All children underwent comprehensive urodynamic examination with analysis of bladder and residual urine volume, mean flow rate, intravesical pressure and total urine volume, as well as electromyographic examination...
2024: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
#20
REVIEW
Anca Maria Panaitescu, Iulia Huluță, Gabriel-Petre Gorecki, Luminita Nicoleta Cima, Vlad M Voiculescu, Florina Mihaela Nedelea, Nicolae Gică
MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in newborns and children with myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, hence the acronym MIRAGE. The aims of this paper are (1) to present fetal ultrasound features in a case where MIRAGE syndrome was diagnosed prenatally and (2) to review the existing literature records on prenatal manifestations of MIRAGE syndrome...
March 5, 2024: Children
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