keyword
https://read.qxmd.com/read/38511620/a-further-case-of-chondrodysplasia-with-growth-failure-occurring-after-hematopoietic-stem-cell-transplantation-hsct
#1
K Kavanagh, J Coleman, S M O'Connell, C Ní Fhoghlú, D P Moore, C Brenner, S A Lynch
There is an emerging body of evidence showing that young patients, post haematopoietic stem cell transplantation (HSCT), can develop skeletal changes that mimic an osteochondrodysplasia process. The key discriminator is that these children have had otherwise normal growth and skeletal development before the therapeutic intervention (HSCT), typically for a haematological malignancy. Herein we present that case of a boy who underwent HSCT for Haemophagocytic Lymphohistiocytosis (HLH) aged 2 years. Following Intervention with HSCT this boy's growth has severely decelerated (stature less than 1st centile matched for age) and he has developed a spondyloepiphyseal dysplasia...
March 21, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38499350/zap-70-mutation-a-case-with-familial-autoimmune-haemolytic-anaemia-and-immune-deficiency
#2
JOURNAL ARTICLE
Mai M Abd Elhamed, Yasser Wali, Ilham Youssry
Zeta-chain associated protein kinase 70 kDa (ZAP-70) deficiency is one of the rare immunodeficiency disorders due to autosomal recessive homozygous or compound heterozygous loss-of-function mutations in the ZAP-70 GENE In the literature, patients with ZAP-70 deficiency have been reported with a broad spectrum of clinical manifestations including recurrent respiratory infections (81.8%), cutaneous involvement (57.9%), lymphoproliferation (32.4%), autoimmunity (19.4%), enteropathy (18.4%) and increased risk of malignancies (8...
March 18, 2024: BMJ Case Reports
https://read.qxmd.com/read/38496148/congenital-afibrinogenemia-with-facial-haematoma
#3
Mohsin Hassan, Maaz Khan, Moula Ghulam, Nouman Anthony, Mohsin Khan
Congenital afibrinogenemia is a rare inherited blood disorder characterized by a deficiency of fibrinogen, leading to abnormal blood clotting. It is caused by mutations in fibrinogen genes and results in a propensity for bleeding. We present the case of a one-year-old male child with congenital afibrinogenemia who developed a left-sided facial haematoma following a fall from a walker. The child had a history of active bleeding during cannulation and had not undergone circumcision due to the risk of bleeding...
February 2024: Curēus
https://read.qxmd.com/read/38493200/application-of-droplet-digital-pcr-in-minimal-residual-disease-monitoring-of-rare-fusion-transcripts-and-mutations-in-haematological-malignancies
#4
JOURNAL ARTICLE
Beca B K Ip, Anthony T C Wong, Janet Hei Yin Law, Chun Hang Au, Shing Yan Ma, James C S Chim, Raymond H S Liang, Anskar Y H Leung, Thomas S K Wan, Edmond S K Ma
Leukaemia of various subtypes are driven by distinct chromosomal rearrangement or genetic abnormalities. The leukaemogenic fusion transcripts or genetic mutations serve as molecular markers for minimal residual disease (MRD) monitoring. The current study evaluated the applicability of several droplet digital PCR assays for the detection of these targets at RNA and DNA levels (atypical BCR::ABL1 e19a2, e23a2ins52, e13a2ins74, rare types of CBFB::MYH11 (G and I), PCM1::JAK2, KMT2A::ELL2, PICALM::MLLT10 fusion transcripts and CEBPA frame-shift and insertion/duplication mutations) with high sensitivity...
March 16, 2024: Scientific Reports
https://read.qxmd.com/read/38490767/the-landscape-of-cytogenetic-and-molecular-genetic-methods-in-diagnostics-for-hematologic-neoplasia
#5
REVIEW
Yvonne Lisa Behrens, Stefan Pietzsch, Željko Antić, Yanming Zhang, Anke K Bergmann
Improvements made during the last decades in the management of patients with hematologic neoplasia have resulted in increase of overall survival. These advancements have become possible through progress in our understanding of genetic basis of different hematologic malignancies and their role in the current risk-adapted treatment protocols. In this review, we provide an overview of current cytogenetic and molecular genetic methods, commonly used in the genetic characterization of hematologic malignancies, describe the current developments in the cytogenetic and molecular diagnostics, and give an outlook into their future development...
March 2024: Best Practice & Research. Clinical Haematology
https://read.qxmd.com/read/38490763/cytogenetics-and-genomics-of-acute-myeloid-leukemia
#6
REVIEW
Oraine Snaith, Corey Poveda-Rogers, Dorottya Laczko, Guang Yang, Jennifer J D Morrissette
The diversity of genetic and genomic abnormalities observed in acute myeloid leukemia (AML) reflects the complexity of these hematologic neoplasms. The detection of cytogenetic and molecular alterations is fundamental to diagnosis, risk stratification and treatment of AML. Chromosome rearrangements are well established in the diagnostic classification of AML, as are some gene mutations, in several international classification systems. Additionally, the detection of new mutational profiles at relapse and identification of mutations in the pre- and post-transplant settings are illuminating in understanding disease evolution and are relevant to the risk assessment of AML patients...
March 2024: Best Practice & Research. Clinical Haematology
https://read.qxmd.com/read/38480914/advancing-rare-disease-treatment-ema-s-decade-long-insights-into-engineered-adoptive-cell-therapy-for-rare-cancers-and-orphan-designation
#7
JOURNAL ARTICLE
Maria Elisabeth Kalland, Tomas Pose-Boirazian, Gloria Maria Palomo, Frauke Naumann-Winter, Enrico Costa, Darius Matusevicius, Dinah M Duarte, Eva Malikova, Dinko Vitezic, Kristina Larsson, Armando Magrelli, Violeta Stoyanova-Beninska, Segundo Mariz
Adoptive cell therapy (ACT), particularly chimeric antigen receptor (CAR)-T cell therapy, has emerged as a promising approach for targeting and treating rare oncological conditions. The orphan medicinal product designation by the European Union (EU) plays a crucial role in promoting development of medicines for rare conditions according to the EU Orphan Regulation.This regulatory landscape analysis examines the evolution, regulatory challenges, and clinical outcomes of genetically engineered ACT, with a focus on CAR-T cell therapies, based on the European Medicines Agency's Committee for Orphan Medicinal Products review of applications evaluated for orphan designation and maintenance of the status over a 10-year period...
March 14, 2024: Gene Therapy
https://read.qxmd.com/read/38474215/gene-expression-studies-in-down-syndrome-what-do-they-tell-us-about-disease-phenotypes
#8
REVIEW
Laura R Chapman, Isabela V P Ramnarine, Dan Zemke, Arshad Majid, Simon M Bell
Down syndrome is a well-studied aneuploidy condition in humans, which is associated with various disease phenotypes including cardiovascular, neurological, haematological and immunological disease processes. This review paper aims to discuss the research conducted on gene expression studies during fetal development. A descriptive review was conducted, encompassing all papers published on the PubMed database between September 1960 and September 2022. We found that in amniotic fluid, certain genes such as COL6A1 and DSCR1 were found to be affected, resulting in phenotypical craniofacial changes...
March 4, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38457222/a-single-centre-real-world-study-of-btk-inhibitors-for-the-initial-treatment-of-myd88-mut-cd79b-mut-diffuse-large-b-cell-lymphoma
#9
JOURNAL ARTICLE
Ting Deng, Shiyuan Zhang, Min Xiao, Jia Gu, Liang Huang, Xiaoxi Zhou
BACKGROUND: MCD (MYD88L265P /CD79Bmut ) diffuse large B-cell lymphoma has a poor prognosis. There is no published clinical research conclusion regarding zanubrutinib or orelabrutinib for the initial treatment of MCD DLBCL. AIMS: This study aimed to analyse the efficacy and safety of Bruton's tyrosine kinase inhibitor (BTKi) (zanubrutinib or orelabrutinib) therapy for newly diagnosed DLBCL patients with MYD88mut and/or CD79Bmut . MATERIALS AND METHODS: Twenty-three newly diagnosed DLBCL patients with MYD88mut and/or CD79Bmut from June 2020 to June 2022 received BTKi combined with rituximab plus cyclophosphamide, doxorubicin, vincristine and prednisone (R-CHOP) or rituximab + lenalidomide (R2 )...
February 2024: Cancer Medicine
https://read.qxmd.com/read/38446353/lutetium-177-labelled-anti-psma-monoclonal-antibody-lu-tlx591-therapy-for-metastatic-prostate-cancer-treatment-toxicity-and-outcomes
#10
JOURNAL ARTICLE
Hanh Nguyen, Kathryn Hird, Joe Cardaci, Steven Smith, Nat P Lenzo
INTRODUCTION: Whilst prostate cancer is the fourth most common cancer globally, effective therapies for patients with advanced disease are lacking. In recent years, interest in using theranostic agents to treat castrate-resistant prostate cancer (CRPC) and metastatic prostate cancer has emerged. Lu-TLX591 monoclonal antibody is a potential agent of significance; however, to date, reports on its toxicity and efficacy have been limited to small clinical trials in heavily pretreated patients...
March 6, 2024: Molecular Diagnosis & Therapy
https://read.qxmd.com/read/38432242/haemoglobin-thresholds-to-define-anaemia-from-age-6-months-to-65-years-estimates-from-international-data-sources
#11
JOURNAL ARTICLE
Sabine Braat, Katherine L Fielding, Jiru Han, Victoria E Jackson, Sophie Zaloumis, Jessica Xu Hui Xu, Gemma Moir-Meyer, Sophia M Blaauwendraad, Vincent W V Jaddoe, Romy Gaillard, Patricia C Parkin, Cornelia M Borkhoff, Charles D G Keown-Stoneman, Catherine S Birken, Jonathon L Maguire, Melanie Bahlo, Eliza M Davidson, Sant-Rayn Pasricha
BACKGROUND: Detection of anaemia is crucial for clinical medicine and public health. Current WHO anaemia definitions are based on statistical thresholds (fifth centiles) set more than 50 years ago. We sought to establish evidence for the statistical haemoglobin thresholds for anaemia that can be applied globally and inform WHO and clinical guidelines. METHODS: In this analysis we identified international data sources from populations in the USA, England, Australia, China, the Netherlands, Canada, Ecuador, and Bangladesh with sufficient clinical and laboratory information collected between 1998 and 2020 to obtain a healthy reference sample...
February 29, 2024: Lancet Haematology
https://read.qxmd.com/read/38432067/autoimmune-cytopenia-and-kabuki-syndrome-in-paediatrics-insights-in-11-patients
#12
JOURNAL ARTICLE
Chloé Bianchi, Henri Margot, Helder Fernandes, Marlène Pasquet, Laurence Priqueler, Frédérique Roy-Peaud, Frédéric Bauduer, Sophie Bayart, Nathalie Garnier, Olivier Fain, Julien Van Gils, Sandrine Baron Joly, Fanny Rialland, Catherine Paillard, Marianna Deparis, Anne Lambilliotte, Thierry Leblanc, Mony Fahd, Guy Leverger, Sébastien Héritier, David Geneviève, Frédéric Rieux-Laucat, Capucine Picard, Caroline Neyraud, Nathalie Aladjidi
Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe the genetic diagnosis and the clinical management of patients with paediatric-onset AIC and KS. Among 11 patients with AIC and KS, all had chronic immune thrombocytopenic purpura, and seven had Evans syndrome...
March 3, 2024: British Journal of Haematology
https://read.qxmd.com/read/38426298/do-alarmins-have-a-role-in-multiple-myeloma
#13
JOURNAL ARTICLE
Ayfer Gedük, Merve Gökçen Polat, Esra Terzi Demirsoy, Berrin Öztaş, Baldan Huri Eryılmaz, Emel Merve Yenihayat, Hayrunnisa Albayrak, Haşim Atakan Erol, Özgür Mehtap, Pınar Tarkun, Abdullah Hacıhanefioğlu
OBJECTIVE: Calprotectin (CLP), S100A6, and High Mobility Group Nucleosome-Binding Protein 1 (HMGN1), known as alarmins, are involved in the pathogenesis of many tumors. In this study, we aimed to inve stigate the relationship of serum CLP, S100A6, and HMGN1 levels with clinical and laboratory findings in Multiple Myeloma (MM) patients and their role in the pathogenesis of MM. MATERIALS AND METHODS: We measured serum CLP, S100A6, and HMGN1 levels in 55 newly diagnosed patients and 32 healthy controls (HC)...
March 1, 2024: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://read.qxmd.com/read/38418238/sickle-eye-project-a-cross-sectional-non-interventional-study-of-the-prevalence-of-visual-impairment-due-to-sickle-cell-retinopathy-and-maculopathy-in-the-uk
#14
JOURNAL ARTICLE
Christiana Dinah, Konstantinos Balaskas, Brigit Greystoke, Rossby Awadzi, Peter Beke, Roger Ahern, James Talks
INTRODUCTION: Sickle cell disease (SCD) is one of the most common genetic disorders in the UK, with over 15 000 people affected. Proliferative sickle cell retinopathy (SCR) is a well-described complication of SCD and can result in significant sight loss, although the prevalence in the UK is not currently known. There are currently no national screening guidelines for SCR, with wide variations in the management of the condition across the UK. METHODS AND ANALYSIS: The Sickle Eye Project is an epidemiological, cross-sectional, non-interventional study to determine the prevalence of visual impairment due to SCR and/or maculopathy in the UK...
February 28, 2024: BMJ Open
https://read.qxmd.com/read/38411250/validation-of-the-artificial-intelligence-prognostic-scoring-system-for-myelodysplastic-syndromes-in-chronic-myelomonocytic-leukaemia-a-novel-approach-for-improved-risk-stratification
#15
JOURNAL ARTICLE
Adrian Mosquera Orgueira, Manuel Mateo Perez Encinas, Nicolas Diaz Varela, Yu-Hung Wang, Elvira Mora, Marina Diaz-Beya, Maria Julia Montoro, Helena Pomares Marin, Fernando Ramos Ortega, Mar Tormo, Andres Jerez, Josep Nomdedeu, Carlos de Miguel Sanchez, Leonor Arenillas, Paula Carcel, Maria Teresa Cedena Romero, Blanca Xicoy Cirici, Eugenia Rivero Arango, Rafael Andrés Del Orbe Barreto, Luis Benlloch, Chien-Chin Lin, Hwei-Fang Tien, Carlos Pérez Míguez, Davide Crucitti, María Díez Campelo, David Valcárcel
Chronic myelomonocytic leukaemia (CMML) is a rare haematological disorder characterized by monocytosis and dysplastic changes in myeloid cell lineages. Accurate risk stratification is essential for guiding treatment decisions and assessing prognosis. This study aimed to validate the Artificial Intelligence Prognostic Scoring System for Myelodysplastic Syndromes (AIPSS-MDS) in CMML and to assess its performance compared with traditional scores using data from a Spanish registry (n = 1343) and a Taiwanese hospital (n = 75)...
February 27, 2024: British Journal of Haematology
https://read.qxmd.com/read/38342626/systematic-review-of-hematopoietic-stem-cell-gene-therapy-approach-in-thalassemia-comparative-analysis-in-animal-models
#16
REVIEW
Indira Laksmi Maharani, Muhammad Hafizh Zauhari, Rakean Ahmad Kiansantang, Razzan Satria Wibowo, Rizqi Najla Humaira, Adisti Dwijayanti, Imelda Rosalyn Sianipar
Hematopoietic stem cell (HSC) gene therapy has shown potential as a therapeutic approach for thalassemia in recent years. However, a comparison of the varying gene therapy methods of HSC gene therapy in thalassemia has never been reviewed. This study aims to evaluate the utilization of HSC gene therapy approaches in animal models of thalassemia. A systematic review was conducted in five databases: PubMed, EBSCOHost, Science Direct, SCOPUS, and Proquest using a combination of the terms hematopoietic stem cell or hematopoietic stem cell or HSC, thalassemia, genetic therapy or gene therapy and animal model...
February 11, 2024: European Journal of Haematology
https://read.qxmd.com/read/38331857/efficacy-and-safety-of-deferoxamine-deferasirox-and-deferiprone-triple-iron-chelator-combination-therapy-for-transfusion-dependent-%C3%AE-thalassaemia-with-very-high-iron-overload-a-protocol-for-randomised-controlled-clinical-trial
#17
JOURNAL ARTICLE
Anuja Premawardhena, Chamodi Perera, Muditha Nayana Wijethilaka, Sakuni Keshani Wanasinghe, R H M G Rajakaruna, R A N K K Samarasinghe, Senani Williams, Sachith Mettananda
INTRODUCTION: Despite the improvement in medical management, many patients with transfusion-dependent β-thalassaemia die prematurely due to transfusion-related iron overload. As per the current guidelines, the optimal chelation of iron cannot be achieved in many patients, even with two iron chelators at their maximum therapeutic doses. Here, we evaluate the efficacy and safety of triple combination treatment with deferoxamine, deferasirox and deferiprone over dual combination of deferoxamine and deferasirox on iron chelation in patients with transfusion-dependent β-thalassaemia with very high iron overload...
February 8, 2024: BMJ Open
https://read.qxmd.com/read/38330977/diagnosis-and-management-of-pyruvate-kinase-deficiency-international-expert-guidelines
#18
REVIEW
Hanny Al-Samkari, Nadine Shehata, Kelly Lang-Robertson, Paola Bianchi, Andreas Glenthøj, Sujit Sheth, Ellis J Neufeld, David C Rees, Satheesh Chonat, Kevin H M Kuo, Jennifer A Rothman, Wilma Barcellini, Eduard J van Beers, Dagmar Pospíšilová, Ami J Shah, Richard van Wijk, Bertil Glader, Maria Del Mar Mañú Pereira, Oliver Andres, Theodosia A Kalfa, Stefan W Eber, Patrick G Gallagher, Janet L Kwiatkowski, Frédéric Galacteros, Carl Lander, Alejandra Watson, Riyad Elbard, Dore Peereboom, Rachael F Grace
Pyruvate kinase (PK) deficiency is the most common cause of chronic congenital non-spherocytic haemolytic anaemia worldwide, with an estimated prevalence of one in 100 000 to one in 300 000 people. PK deficiency results in chronic haemolytic anaemia, with wide ranging and serious consequences affecting health, quality of life, and mortality. The goal of the International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency was to develop evidence-based guidelines for the clinical care of patients with PK deficiency...
February 5, 2024: Lancet Haematology
https://read.qxmd.com/read/38323352/bmp6-and-vdr-gene-polymorphisms-are-associated-with-osteonecrosis-in-a-sickle-cell-anaemia-cohort
#19
JOURNAL ARTICLE
Gabriela S Arcanjo, Mariana B Souza, Igor F Domingos, Diego A Pereira-Martins, Diego A Falcão, Jessica V Batista, Betania L Hatzlhofer, Madi V Diniz, Alexsandro P Silva, Werbson L Guaraná, Manuela F Hazin, Aderson S Araujo, Anderson F Cunha, Sara O Saad, Fernando F Costa, Antonio R Lucena-Araujo, Marcos André C Bezerra
The occurrence and severity of osteonecrosis in sickle cell anaemia (SCA) vary due to risk factors, including genetic modifiers. Bone morphogenetic proteins (BMPs), particularly BMP6, and the vitamin D receptor (VDR) play key roles in cartilage and bone metabolism, making them potential contributors to orthopaedic outcomes in SCA. Here, we evaluated the association of polymorphisms in BMP6 (rs3812163, rs270393 and rs449853) and VDR (FokI rs2228570 and Cdx2 rs11568820) genes with osteonecrosis risk in a Brazilian SCA cohort...
February 7, 2024: British Journal of Haematology
https://read.qxmd.com/read/38302222/diagnostic-evaluation-of-paediatric-autoimmune-lymphoproliferative-immunodeficiencies-alpid-a-prospective-cohort-study
#20
JOURNAL ARTICLE
Pauline Hägele, Paulina Staus, Raphael Scheible, Annette Uhlmann, Maximilian Heeg, Christian Klemann, Maria Elena Maccari, Henrike Ritterbusch, Martin Armstrong, Ioana Cutcutache, Katherine S Elliott, Horst von Bernuth, Timothy Ronan Leahy, Jörg Leyh, Dirk Holzinger, Kai Lehmberg, Peter Svec, Katja Masjosthusmann, Sophie Hambleton, Marcus Jakob, Monika Sparber-Sauer, Leo Kager, Alexander Puzik, Martin Wolkewitz, Myriam Ricarda Lorenz, Klaus Schwarz, Carsten Speckmann, Anne Rensing-Ehl, Stephan Ehl
BACKGROUND: Lymphoproliferation and autoimmune cytopenias characterise autoimmune lymphoproliferative syndrome. Other conditions sharing these manifestations have been termed autoimmune lymphoproliferative syndrome-like diseases, although they are frequently more severe. The aim of this study was to define the genetic, clinical, and immunological features of these disorders to improve their diagnostic classification. METHODS: In this prospective cohort study, patients were referred to the Center for Chronic Immunodeficiency in Freiburg, Germany, between Jan 1, 2008 and March 5, 2022...
February 2024: Lancet Haematology
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