Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
JOURNAL ARTICLE
Kensuke Usuki, Toshihiro Miyamoto, Takuji Yamauchi, Kiyoshi Ando, Yoshiaki Ogawa, Masahiro Onozawa, Takahiro Yamauchi, Hitoshi Kiyoi, Akira Yokota, Takayuki Ikezoe, Yuna Katsuoka, Satoru Takada, Nobuyuki Aotsuka, Yasuyoshi Morita, Takayuki Ishikawa, Noboru Asada, Shuichi Ota, Atsushi Dohi, Kensaku Morimoto, Shunji Imai, Umi Kishimoto, Koichi Akashi, Yasushi Miyazaki
OBJECTIVES: NS-87/CPX-351 is a dual-drug liposomal encapsulation of cytarabine and daunorubicin. NS-87/CPX-351 exerts antileukemic action by maintaining a synergistic molar ratio of cytarabine to daunorubicin of 5:1 within the liposome while in circulation. Patients with high-risk acute myeloid leukemia (AML), which includes therapy-related AML and AML with myelodysplasia-related changes (AML-MRC), have poorer outcomes than those with other AML. METHODOLOGY: This open-label phase 1/2 (P1/2) study was conducted in 47 Japanese patients aged 60-75 years with newly diagnosed high-risk AML to evaluate the pharmacokinetics, safety, and efficacy of NS-87/CPX-351...
March 26, 2024: International Journal of Hematology
#16
JOURNAL ARTICLE
Sirmen Kızılcan Çetin, Elif Özsu, Zeynep Şıklar, Hasan Fatih Çakmaklı, Gizem Şenyazar, Zehra Aycan, Serdar Ceylaner, Merih Berberoğlu
MIRAGE syndrome is a rare multisystemic disorder characterized by various manifestations, such as myelodysplasia, susceptibility to infections, growth retardation, adrenal hypoplasia, genital anomalies, and enteropathy. In the literature, there have been rare cases of dysautonomia. We present a 6.5-year-old girl, who was first admitted to our department with short stature. On follow up, she exhibited multiple endocrinological issues, including transient hypothyroidism, primary hypoparathyroidism and dysautonomia, along with multisystem involvement...
March 26, 2024: Journal of Clinical Research in Pediatric Endocrinology
#17
JOURNAL ARTICLE
Hanadi Rafii, Fernanda Volt, Marc Bierings, Jean-Hugues Dalle, Mouhab Ayas, Rawad Rihani, Maura Faraci, Giuseppina de Simone, Henrik Sengeloev, Jakob Passweg, Marina Cavazzana, Regis Costello, Johan Maertens, Alessandra Biffi, Jan-Erik Johansson, Juan Montoro, Gabrielle Roth Guepin, Miguel Angel Diaz, Anne Sirvent, Chantal Kenzey, Monica M Rivera Franco, Barbara Cappelli, Graziana Maria Scigliuolo, Vanderson Rocha, Annalisa Ruggeri, Antonio Risitano, Regis Peffault De Latour, Eliane Gluckman
BACKGROUND: Hematopoietic cell transplant (HCT) remains the only available curative treatment for Fanconi Anemia (FA), with particularly favorable outcomes reported after matched sibling donor (MSD) transplant. OBJECTIVES: To describe outcomes, with a special focus on late complications, in FA patients who underwent umbilical cord blood transplantation (UCBT). STUDY DESIGN: Retrospective analysis of allogeneic UCBT for FA performed between 1988 and 2021 in European Society for Blood and Marrow Transplantation (EBMT) affiliated centers...
March 5, 2024: Transplantation and cellular therapy
#18
JOURNAL ARTICLE
Asim Saha, Rahul Palchaudhuri, Leanne Lanieri, Sharon Hyzy, Megan J Riddle, Jamie Panthera, Cindy Eide, Jakub Tolar, Angela Panoskaltsis-Mortari, Lev Gorfinkel, Victor Tkachev, Ulrike Gerdemann, Francesca Alvarez-Calderon, Elisa Rojas Palato, Margaret L MacMillan, John E Wagner, Leslie S Kean, Mark Osborn, Hans-Peter Kiem, David T Scadden, Lisa M Olson, Bruce R Blazar
Fanconi anemia (FA) is an inherited DNA repair disorder characterized by bone marrow (BM) failure, developmental abnormalities, myelodysplasia, and leukemia and solid tumor predisposition. Allogeneic hematopoietic stem cell transplantation (allo-HSCT), a mainstay treatment, is limited by conditioning regimen-related toxicity and graft-versus-host disease (GVHD). Antibody-drug-conjugates (ADCs) targeting hematopoietic stem cells (HSCs) can open marrow niches permitting donor stem cell alloengraftment. Here, we report that single dose anti-mouse CD45-targeted-ADC (CD45-ADC) facilitated stable, multilineage chimerism in 3 distinct FA mouse models representing 90% of FA complementation groups...
March 6, 2024: Blood
#19
Suaad Hamsho, Moudar Al Hariri, Bilal Sleiay, Abdul Hadi Daher Alhussen, Mouhammed Sleiay
Celiac disease (CD) is an autoimmune disease characterized by a specific serological and histological profile. Hematological findings are one of the most common presentations and can sometimes be the only manifestation of the disease. In patients with unexplained isolated hematological abnormalities, a high index of suspicion for CD is necessary. A 33-year-old woman was admitted to the Department of Gastroenterology and Hepatology because of abdominal pain and fatigue. She was diagnosed with myelodysplastic syndrome...
March 2024: JGH Open: An Open Access Journal of Gastroenterology and Hepatology
#20
JOURNAL ARTICLE
Reza Yaghoobi, Nooshin Bagherani, Bruce R Smoller, Nader Pazyar
Neutrophilic dermatosis of the hands (NDDH) is a localized variant of Sweet's syndrome which has been recently introduced. Strutton et al.in 1996 and then in Galaria et al. in 2000 reported cases with violaceous papulonodules on the dorsal surfaces of the hands with histopathological findings of a neutrophilic dermatosis in association with leukocytoclasia, but clinically and histologically without true vasculitis findings. Eventually, they proposed the term NDDH for these lesions (1,2). A 46-year-old man was referred to our outpatient dermatology clinic with a painful ulcerative lesion on the dorsal side of the left hand that had been present for one year...
December 2023: Acta Dermatovenerologica Croatica: ADC
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
