keyword
https://read.qxmd.com/read/38488342/regulation-of-n-6-methyladenosine-modification-in-erythropoiesis-and-thalassemia
#21
REVIEW
Yanping Zheng, Siyang Lin, Meihuan Chen, Liangpu Xu, Hailong Huang
In eukaryotic RNA, N6 -methyladenosine (m6 A) is a prevalent form of methylation modification. The m6 A modification process is reversible and dynamic, written by m6 A methyltransferase complex, erased by m6 A demethylase, and recognized by m6 A binding proteins. Through mediating RNA stability, decay, alternative splicing, and translation processes, m6 A modification regulates gene expression at the post-transcriptional level. Erythropoiesis is the process of hematopoietic stem cells undergoing proliferation, a series of differentiation and maturation to form red blood cells (RBCs)...
March 15, 2024: Clinical Genetics
https://read.qxmd.com/read/38487913/-how-i-explore%C3%A2-anemia-in-children
#22
Élisa Hindryckx, Christophe Chantrain
Anemia is a common problem in pediatrics. The most frequent cause is iron deficiency, but it can also be associated to a constitutional or acquired pathology of the bone marrow or red blood cells. We describe a practical approach for rapidly guiding the diagnosis and management of anemia in children. It is based on the history and clinical examination, mean corpuscular volume, ferritinemia, reticulocytosis and hemolytic profile.
March 2024: Revue Médicale de Liège
https://read.qxmd.com/read/38485664/the-role-of-anticomplement-therapy-in-the-management-of-the-kidney-allograft
#23
REVIEW
Mehmet Kanbay, Sidar Copur, Zeynep Y Yilmaz, Dilek Ertoy Baydar, Ilmay Bilge, Caner Susal, Burak Kocak, Alberto Ortiz
As the number of patients living with kidney failure grows, the need also grows for kidney transplantation, the gold standard kidney replacement therapy that provides a survival advantage. This may result in an increased rate of transplantation from HLA-mismatched donors that increases the rate of antibody-mediated rejection (AMR), which already is the leading cause of allograft failure. Plasmapheresis, intravenous immunoglobulin therapy, anti-CD20 therapies (i.e., rituximab), bortezomib and splenectomy have been used over the years to treat AMR as well as to prevent AMR in high-risk sensitized kidney transplant recipients...
March 2024: Clinical Transplantation
https://read.qxmd.com/read/38477987/oral-iptacopan-monotherapy-in-paroxysmal-nocturnal-hemoglobinuria
#24
RANDOMIZED CONTROLLED TRIAL
Régis Peffault de Latour, Alexander Röth, Austin G Kulasekararaj, Bing Han, Phillip Scheinberg, Jaroslaw P Maciejewski, Yasutaka Ueda, Carlos M de Castro, Eros Di Bona, Rong Fu, Li Zhang, Morag Griffin, Saskia M C Langemeijer, Jens Panse, Hubert Schrezenmeier, Wilma Barcellini, Vitor A Q Mauad, Philippe Schafhausen, Suzanne Tavitian, Eloise Beggiato, Lee Ping Chew, Anna Gaya, Wei-Han Huang, Jun Ho Jang, Toshio Kitawaki, Abdullah Kutlar, Rosario Notaro, Vinod Pullarkat, Jörg Schubert, Louis Terriou, Michihiro Uchiyama, Lily Wong Lee Lee, Eng-Soo Yap, Flore Sicre de Fontbrune, Luana Marano, Ferras Alashkar, Shreyans Gandhi, Roochi Trikha, Chen Yang, Hui Liu, Richard J Kelly, Britta Höchsmann, Cécile Kerloeguen, Partha Banerjee, Rafael Levitch, Rakesh Kumar, Zhixin Wang, Christine Thorburn, Samopriyo Maitra, Shujie Li, Aurelie Verles, Marion Dahlke, Antonio M Risitano
BACKGROUND: Persistent hemolytic anemia and a lack of oral treatments are challenges for patients with paroxysmal nocturnal hemoglobinuria who have received anti-C5 therapy or have not received complement inhibitors. Iptacopan, a first-in-class oral factor B inhibitor, has been shown to improve hemoglobin levels in these patients. METHODS: In two phase 3 trials, we assessed iptacopan monotherapy over a 24-week period in patients with hemoglobin levels of less than 10 g per deciliter...
March 14, 2024: New England Journal of Medicine
https://read.qxmd.com/read/38470435/add-on-erythropoietin-in-autoimmune-hemolytic-anemia
#25
EDITORIAL
Miriam M Moser, Bernd Jilma
No abstract text is available yet for this article.
March 12, 2024: Blood Advances
https://read.qxmd.com/read/38468700/the-interactions-between-ineffective-erythropoiesis-and-ferroptosis-in-%C3%AE-thalassemia
#26
REVIEW
Siyang Lin, Yanping Zheng, Meihuan Chen, Liangpu Xu, Hailong Huang
In Guangxi, Hainan, and Fujian Province in southern China, β-thalassemia is a frequent monogenic hereditary disorder that is primarily defined by hemolytic anemia brought on by inefficient erythropoiesis. It has been found that ineffective erythropoiesis in β-thalassemia is closely associated with a high accumulation of Reactive oxygen species, a product of oxidative stress, in erythroid cells. During recent years, ferroptosis is an iron-dependent lipid peroxidation that involves abnormalities in lipid and iron metabolism as well as reactive oxygen species homeostasis...
2024: Frontiers in Physiology
https://read.qxmd.com/read/38436873/clostridium-perfringens-induced-massive-hemolysis-treatment-with-blood-purification-to-target-toxins-a-case-report
#27
JOURNAL ARTICLE
I Reffo, M Domini, M Cevolani, G Del Fabro, D Rufolo, S Venturini, L Pinciroli, D Tonin, M Avolio, M Crapis, G Basaglia, M Balbi, G Nadalin
Clostridium perfringens can rarely cause severe systemic infections, usually from an abdominal source, associated with massive hemolysis, which is usually fatal. Hemolytic anemia and acute renal injury resulting from toxin action are critical for the development of multiple organ dysfunction syndrome (MODs), making this condition a real emergency, requiring multispecialty skills and aggressive multimodal therapies. We herein describe a case of septic shock from acute cholecystitis with massive hemolysis caused by C...
March 4, 2024: CEN Case Reports
https://read.qxmd.com/read/38435165/a-case-report-of-hemolytic-hyponatremia
#28
Santiago Manrique-Castaño, Luisa Rodríguez-Rosero, Raúl Vallejo-Serna
Hereditary spherocytosis/elliptocytosis is a non-immune hemolytic anemia caused by an alteration in the erythrocyte membrane that predisposes the cell to its lysis. This report presents a case of a 42-year-old woman with a history of spontaneous abortion, associated with postpartum bleeding, chronic anemia, and premature menopause. After five years, she consulted due to alterations in the state of consciousness and severe symptomatic hyponatremia, with a diagnosis of hypopituitarism, explained by a late Sheehan syndrome...
February 2024: Curēus
https://read.qxmd.com/read/38434380/pyruvate-kinase-deficiency-and-pklr-gene-mutations-insights-from-molecular-dynamics-simulation-analysis
#29
JOURNAL ARTICLE
Yang Wang, Jiaqi Liu, Tao Liu, Xizhou An, Lan Huang, Jiacheng Li, Yongjie Zhang, Yan Xiang, Li Xiao, Weijia Yi, Jiebin Qin, Lili Liu, Cuilan Wang, Jie Yu
Pyruvate kinase deficiency is a rare hereditary erythrocyte enzyme disease caused by mutations in the pyruvate kinase liver and red blood cell gene. The clinical presentations of pyruvate kinase deficiency are significantly heterogeneous, ranging from just mild anemia to hemolytic crisis or even death. The proband in our study was a 2-year-old girl for severe skin and scleral icterus with progressive aggravation. We collected the family's data for further analysis. Whole exome genome sequencing of the pedigree revealed a novel compound heterozygous mutation, c...
March 15, 2024: Heliyon
https://read.qxmd.com/read/38433116/immune-mediated-hemolytic-anemia-and-pure-red-cell-aplasia-in-a-jack-russell-terrier-during-treatment-for-hypoadrenocorticism
#30
Shunya Yokota, Masashi Yuki
An 11-year-old neutered male Jack Russell Terrier was presented to Yuki Animal Hospital for regenerative anemia during the treatment of hypoadrenocorticism. A blood smear examination showed spherocytes, polychromatic erythrocytes, and erythrocyte ghosts. The direct agglutination test was positive at 37°C. The dog was then diagnosed with immune-mediated hemolytic anemia (IMHA). Although prednisolone and mycophenolate mofetil were administered, the hematocrit and reticulocyte count decreased, and nonregenerative anemia developed...
March 3, 2024: Veterinary Clinical Pathology
https://read.qxmd.com/read/38432079/an-atypical-case-of-phosphoglycerate-kinase-deficiency-with-a-novel-pgk1-variant
#31
JOURNAL ARTICLE
Xizhong Zhou, Qiuli Liu, Mingwei Huang
No abstract text is available yet for this article.
February 20, 2024: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/38431953/purine-nucleoside-phosphorylase-deficiency-in-two-unrelated-patients-with-autoimmune-hemolytic-anemia-and-eosinophilia-two-novel-mutations
#32
JOURNAL ARTICLE
Zahra Alizadeh, Mohsen Badalzadeh, Hanieh Heydarlou, Leila Shakerian, Maryam Mahlooji Rad, Fariborz Zandieh, Mohammad Reza Fazlollahi
Two Iranian patients with purine nucleoside phosphorylase (PNP) deficiency are described in terms of their clinical and molecular evaluations. PNP deficiency is a rare form of combined immunodeficiency with a profound cellular defect. Patients with PNP deficiency suffer from variable recurrent infections, hypouricemia, and neurological manifestations. Furthermore, patient 1 developed mild cortical atrophy, and patient 2 presented developmental delay, general muscular hypotonia, and food allergy. The two unrelated patients with developed autoimmune hemolytic anemia and T cells lymphopenia and eosinophilia were referred to Immunology, Asthma and Allergy Research Institute (IAARI) in 2019...
December 1, 2023: Archives of Iranian Medicine
https://read.qxmd.com/read/38426197/genetics-of-gallstone-disease-and-their-clinical-significance-a-narrative-review
#33
REVIEW
Christopher J Costa, Minh Thu T Nguyen, Haleh Vaziri, George Y Wu
Gallstone (GS) disease is common and arises from a combination of genetic and environmental factors. Although genetic abnormalities specifically leading to cholesterol GSs are rare, there are clinically significant gene variants associated with cholesterol GSs. In contrast, most bilirubin GSs can be attributed to genetic defects. The pathogenesis of cholesterol and bilirubin GSs differs greatly. Cholesterol GSs are notably influenced by genetic variants within the ABC protein superfamily, including ABCG8, ABCG5, ABCB4, and ABCB11, as well as genes from the apolipoprotein family such as ApoB100 and ApoE (especially the E3/E3 and E3/E4 variants), and members of the MUC family...
March 28, 2024: Journal of Clinical and Translational Hepatology
https://read.qxmd.com/read/38408112/severe-hemolytic-anemia-atypical-presentation-of-cobalamin-deficiency
#34
JOURNAL ARTICLE
Carolina Fraga, Ana Losa, Inês Cascais, Cristina Garrido, Ana Lachado, Isabel Couto Guerra, Anabela Bandeira, Esmeralda Cleto, Emília Costa
Two severe cases of hemolytic anemia are described in different pediatric age groups, both linked to severe cobalamin deficiency from distinct causes. The first case refers to an exclusively breastfed infant with vitamin deficit secondary to maternal impaired absorption. Apart from the neurological deficits present at diagnosis, he also presented with infantile epileptic spasms syndrome a few months after treatment while having normal cobalamin serum levels. The second case refers to an adolescent with long-term inadequate intake...
February 15, 2024: Journal of Pediatric Hematology/oncology
https://read.qxmd.com/read/38406537/autoimmune-thrombotic-thrombocytopenic-purpura-associated-with-disseminated-sarcoidosis-a-case-report
#35
Maxime Billotte, Peter Eszto, Benoît Thomas, Pierre Groizard, Pierre Perez, Julien Campagne
Sarcoidosis is an inflammatory disease known to be associated with multiple autoimmune disorders. There is a restricted number of descriptions of the association between sarcoidosis and autoimmune thrombotic thrombocytopenic purpura (aTTP). We present the case of a 63-year-old woman admitted to the hospital to investigate a possible sarcoidosis who had hemolytic anemia and thrombocytopenia, with low ADAMTS13 activity and anti-ADAMTS13 antibodies, leading to a diagnosis of aTTP. Sarcoidosis was later confirmed and the two conditions evolved separately after 6 months, questioning the link between them...
February 2024: EJHaem
https://read.qxmd.com/read/38405361/disseminated-aspergillus-citrinoterreus-and-concurrent-localized-dermal-phaeohyphomycosis-in-an-immunosuppressed-dog
#36
David Sender, Benjamin Hulsey, Connie Cañete-Gibas, Nathan Wiederhold, Jung Keun Lee, Abigail Finley, Catherine Cruz, Mary E White
KEY CLINICAL MESSAGE: We report on a dog with immune-mediated hemolytic anemia (IMHA) treated with immunomodulatory therapy that developed phaeohyphomycosis and Aspergillus citrinoterreus infections. This is the first reported case of A. citrinoterreus in dogs. It details cytological and microbiological findings leading to diagnosis and highlights the importance of investigating new lesions in immunocompromised patients. ABSTRACT: A 5-year-old Staffordshire terrier mix treated with immunosuppressive therapy for IMHA was diagnosed with concurrent disseminated A...
February 2024: Clinical Case Reports
https://read.qxmd.com/read/38403763/a-case-of-atypical-hemolytic-uremic-syndrome-triggered-by-acute-pancreatitis-in-a-patient-with-a-membrane-cofactor-protein-cd46-genetic-variant
#37
JOURNAL ARTICLE
Kosuke Mochizuki, Naohiro Toda, Masaaki Fujita, Satoshi Kurahashi, Hisako Hirashima, Kazuki Yoshioka, Tomoya Kitagawa, Akira Ishii, Toshiyuki Komiya
Atypical hemolytic uremic syndrome (aHUS) is a type of HUS. We herein report a case of aHUS triggered by pancreatitis in a patient with a heterozygous variant of membrane cofactor protein (MCP; P165S), a complement-related gene. Plasma exchange therapy and hemodialysis improved thrombocytopenia and anemia without leading to end-stage kidney disease. This MCP heterozygous variant was insufficient to cause aHUS on its own. Pancreatitis, in addition to a genetic background with a MCP heterozygous variant, led to the manifestation of aHUS...
February 26, 2024: Internal Medicine
https://read.qxmd.com/read/38402032/pediatric-autoimmune-hemolytic-anemia-a-single-center-retrospective-study
#38
JOURNAL ARTICLE
Aline Sayuri Sakamoto, Fernanda Silva Sequeira, Bruna Paccola Blanco, Marlene Pereira Garanito
BACKGROUND: Autoimmune hemolytic anemia (AIHA) is a rare, life-threatening disease in pediatrics. This article describes the clinical features, diagnostic workup, treatment and outcome in patients with AIHA. METHOD: Medical charts of under 18-year-old patients with AIHA treated at a tertiary Brazilian institution from 2006 to 2021 were retrospectively reviewed. Data analysis was primarily descriptive, using medians, interquartile ranges, and categorical variables presented as absolute frequencies...
February 19, 2024: Hematology, Transfusion and Cell Therapy
https://read.qxmd.com/read/38397078/the-role-of-glucose-6-phosphate-dehydrogenase-in-the-wine-yeast-hanseniaspora-uvarum
#39
JOURNAL ARTICLE
Jürgen J Heinisch, Andrea Murra, Lucía Fernández Murillo, Hans-Peter Schmitz
Hanseniaspora uvarum is the predominant yeast species in the majority of wine fermentations, which has only recently become amenable to directed genetic manipulation. The genetics and metabolism of H. uvarum have been poorly studied as compared to other yeasts of biotechnological importance. This work describes the construction and characterization of homozygous deletion mutants in the HuZWF1 gene, encoding glucose-6-phosphate dehydrogenase (G6PDH), which provides the entrance into the oxidative part of the pentose phosphate pathway (PPP) and serves as a major source of NADPH for anabolic reactions and oxidative stress response...
February 18, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38396391/hellp-syndrome-and-differential-diagnosis-with-other-thrombotic-microangiopathies-in-pregnancy
#40
REVIEW
Stefano Raffaele Giannubilo, Daniela Marzioni, Giovanni Tossetta, Andrea Ciavattini
Thrombotic microangiopathies (TMAs) comprise a distinct group of diseases with different manifestations that can occur in both pediatric and adult patients. They can be hereditary or acquired, with subtle onset or a rapidly progressive course, and they are particularly known for their morbidity and mortality. Pregnancy is a high-risk time for the development of several types of thrombotic microangiopathies. The three major syndromes are hemolysis, elevated liver function tests, and low platelets (HELLP); hemolytic uremic syndrome (HUS); and thrombotic thrombocytopenic purpura (TTP)...
February 6, 2024: Diagnostics
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