keyword
https://read.qxmd.com/read/38426197/genetics-of-gallstone-disease-and-their-clinical-significance-a-narrative-review
#21
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/38415349/developmental-regulation-of-primitive-erythropoiesis
#22
REVIEW
Marlies P Rossmann, James Palis
PURPOSE OF REVIEW: In this review, we present an overview of recent studies of primitive erythropoiesis, focusing on advances in deciphering its embryonic origin, defining species-specific differences in its developmental regulation, and better understanding the molecular and metabolic pathways involved in terminal differentiation. RECENT FINDINGS: Single-cell transcriptomics combined with state-of-the-art lineage tracing approaches in unperturbed murine embryos have yielded new insights concerning the origin of the first (primitive) erythroid cells that arise from mesoderm-derived progenitors...
May 1, 2024: Current Opinion in Hematology
https://read.qxmd.com/read/38362913/generation-of-red-blood-cells-from-induced-pluripotent-stem-cells
#23
JOURNAL ARTICLE
Naomi Gunawardena, Stella T Chou
PURPOSE OF REVIEW: Human induced pluripotent stem cells (iPSCs) are an attractive source to generate in-vitro-derived blood for use as transfusable and reagent red cells. We review recent advancements in the field and the remaining limitations for clinical use. RECENT FINDINGS: For iPSC-derived red blood cell (RBC) generation, recent work has optimized culture conditions to omit feeder cells, enhance red cell maturation, and produce cells that mimic fetal or adult-type RBCs...
February 14, 2024: Current Opinion in Hematology
https://read.qxmd.com/read/38326223/evidence-that-cd36-is-expressed-on-red-blood-cells-and-constitutes-a-novel-blood-group-system-of-clinical-importance
#24
JOURNAL ARTICLE
Abdul Ghani Alattar, Jill R Storry, Martin L Olsson
BACKGROUND AND OBJECTIVES: Polymorphic molecules expressed on the surface of certain blood cells are traditionally categorized as blood groups and human platelet or neutrophil antigens. CD36 is widely considered a platelet antigen (Naka ) and anti-CD36 can cause foetal/neonatal alloimmune thrombocytopenia (FNAIT) in CD36-negative pregnant women. CD36 is used as a marker of differentiation in early erythroid culture. During the experimental culture of CD34+ cells from random blood donors, we observed that one individual lacked CD36...
February 7, 2024: Vox Sanguinis
https://read.qxmd.com/read/38322628/roxadustat-for-patients-with-posttransplant-anemia-a-narrative-review
#25
REVIEW
Xiaoxiao Tang, Fei Liu, Qiuyu Li, Jianhua Mao
BACKGROUND: Hypoxia-inducible factor-prolyl hydroxylase inhibitors (HIF-PHIs) are novel oral agents used for renal anemia treatment. Roxadustat, a first-in-class HIF-PHI used for treating anemia in chronic kidney disease patients, has been approved in China, Japan, South Korea, Chile, and Europe. Roxadustat is involved in HIF degradation, which can stimulate endogenous erythropoietin (EPO) production and improve iron utilization. Besides, roxadustat can promote dietary iron uptake and transport...
February 2024: Kidney Diseases
https://read.qxmd.com/read/38311719/impact-of-c-reactive-protein-on-the-effect-of-roxadustat-for-the-treatment-of-anemia-in-chronic-kidney-disease-a-systematic-review-of-randomized-controlled-trials
#26
JOURNAL ARTICLE
Xiaoyu Luo, Guoli Li, Hongyu Yang, Lang Chen, Yinyan Gao, Jing Cong, Hui Luo, Weiru Zhang
BACKGROUND: Chronic inflammation, reflected by an increased blood C-reactive protein (CRP) level, is common in patients with chronic kidney disease (CKD) and is involved in the development of renal anemia. This systematic review aims to investigate the impacts of CRP on the efficacy of hypoxia-inducible factor-prolyl hydroxylase inhibitors (HIF-PHIs) in the treatment of renal anemia in patients with CKD. METHODS: We conducted a comprehensive search of electronic databases including Pubmed, Web of Science, Embase, Cochrane Library, CNKI, Wanfang, and the International Clinical Trials Registry Platform (ICTRP), from their inception to May 19, 2022...
February 5, 2024: BMC Nephrology
https://read.qxmd.com/read/38311350/considerations-regarding-anesthesia-for-renal-transplantation
#27
REVIEW
Hyunjee Kim, Hoon Jung
Renal transplantation is a complex surgical procedure requiring meticulous anesthetic planning to ensure patient safety and optimal graft function. In this comprehensive review, we examined various aspects of anesthesia management during renal transplantation, including preoperative, intraoperative, and postoperative care. Preoperative optimization involves the identification and management of risks to mitigate perioperative complications. Treatment with erythropoiesis-stimulating agents is recommended to correct anemia in transplant recipients with hemoglobin levels below 9-10 g/dl...
January 2024: Anesthesia and pain medicine
https://read.qxmd.com/read/38307404/vexas-syndrome-an-update
#28
JOURNAL ARTICLE
Mohamed-Yacine Khitri, Jérôme Hadjadj, Arsène Mekinian, Vincent Jachiet
VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described autoinflammatory syndrome, mostly affecting men older than 50 years, caused by somatic mutation in the UBA1 gene, a X-linked gene involved in the activation of ubiquitin system. Patients present a broad spectrum of inflammatory manifestations (fever, neutrophilic dermatosis, chondritis, pulmonary infiltrates, ocular inflammation, venous thrombosis) and hematological involvement (macrocytic anemia, thrombocytopenia, vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow) that are responsible for a significant morbidity and mortality...
January 31, 2024: Joint, Bone, Spine: Revue du Rhumatisme
https://read.qxmd.com/read/38281228/treating-periprocedural-bleeding-in-patients-with-cirrhosis
#29
REVIEW
Antoni Sabate, Ecaterina Scarlatescu
Patients with cirrhosis are known to have an abnormal coagulation status, which is a particular concern when planning invasive procedures in which blood loss is possible or predictable. Careful consideration must be given to the bleeding risk for each individual patient and coagulation management strategies should be established in advance of procedural interventions, where possible. Perioperative clinical decision-making should utilize viscoelastic testing in addition to usual assessments, where possible, and focus on the well-established three pillars of patient blood management: optimization of erythropoiesis, minimization of bleeding and blood loss, and management of anemia...
January 28, 2024: Journal of Thrombosis and Thrombolysis
https://read.qxmd.com/read/38262486/cell-fate-decision-in-erythropoiesis-insights-from-multiomics-studies
#30
JOURNAL ARTICLE
Steven Tur, Carmen G Palii, Marjorie Brand
Every second, the body produces 2 million red blood cells through a process called erythropoiesis. Erythropoiesis is hierarchical in that it results from a series of cell fate decisions whereby hematopoietic stem cells progress toward the erythroid lineage. Single-cell transcriptomic and proteomic approaches have revolutionized the way we understand erythropoiesis, revealing it to be a gradual process that underlies a progressive restriction of fate potential driven by quantitative changes in lineage-specifying transcription factors...
January 21, 2024: Experimental Hematology
https://read.qxmd.com/read/38215894/management-of-anaemia-in-renal-palliative-care-clinic-a-patient-centred-approach
#31
JOURNAL ARTICLE
Hon Wai Benjamin Cheng, Ka Po Chan, Wai Ki Vicky Chung, Yong Hsu, Kwok Ying Chan
BACKGROUND: Despite the growing needs in non-dialytic alternatives for conservative kidney management, few studies have examined the management of anemia in palliative care (PC) outpatient clinics, which represent the key point of entry for timely access to PC. OBJECTIVE: A retrospective study to review for a patient-centered approach in anemia management and symptom control. RESULTS: Over the study period from July 2020 to March 2023, a total of 158 patients were seen at our renal PC clinic, 47 were included into data analysis...
January 10, 2024: Journal of Pain and Symptom Management
https://read.qxmd.com/read/38215133/anemia-iron-and-hiv-decoding-the-interconnected-pathways-a-review
#32
REVIEW
Emmanuel Ifeanyi Obeagu, Getrude Uzoma Obeagu, Nkiruka Rose Ukibe, Samson Adewale Oyebadejo
This review delves into the intricate relationship between anemia, iron metabolism, and human immunodeficiency virus (HIV), aiming to unravel the interconnected pathways that contribute to the complex interplay between these 3 entities. A systematic exploration of relevant literature was conducted, encompassing studies examining the association between anemia, iron status, and HIV infection. Both clinical and preclinical investigations were analyzed to elucidate the underlying mechanisms linking these components...
January 12, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38189492/vitamin-b12-supplementation-during-pregnancy-for-maternal-and-child-health-outcomes
#33
JOURNAL ARTICLE
Julia L Finkelstein, Amy Fothergill, Sudha Venkatramanan, Alexander J Layden, Jennifer L Williams, Krista S Crider, Yan Ping Qi
BACKGROUND: Vitamin B12 deficiency is a major public health problem worldwide, with the highest burden in elderly people, pregnant women, and young children. Due to its role in DNA synthesis and methylation, folate metabolism, and erythropoiesis, vitamin B12 supplementation during pregnancy may confer longer-term benefits to maternal and child health outcomes. OBJECTIVES: To evaluate the benefits and harms of oral vitamin B12 supplementation during pregnancy on maternal and child health outcomes...
January 8, 2024: Cochrane Database of Systematic Reviews
https://read.qxmd.com/read/38182489/%C3%AE-lpha-thalassemia-a-practical-overview
#34
REVIEW
Khaled M Musallam, M Domenica Cappellini, Thomas D Coates, Kevin H M Kuo, Hanny Al-Samkari, Sujit Sheth, Vip Viprakasit, Ali T Taher
α-Thalassemia is an inherited blood disorder characterized by decreased synthesis of α-globin chains that results in an imbalance of α and β globin and thus varying degrees of ineffective erythropoiesis, decreased red blood cell (RBC) survival, chronic hemolytic anemia, and subsequent comorbidities. Clinical presentation varies depending on the genotype, ranging from a silent or mild carrier state to severe, transfusion-dependent or lethal disease. Management of patients with α-thalassemia is primarily supportive, addressing either symptoms (eg, RBC transfusions for anemia), complications of the disease, or its transfusion-dependence (eg, chelation therapy for iron overload)...
January 3, 2024: Blood Reviews
https://read.qxmd.com/read/38130347/clinical-experience-of-a-long-acting-pegylated-erythropoietin-stimulating-agent-in-pediatric-chronic-kidney-disease
#35
JOURNAL ARTICLE
Maria Anna Bantounou, Angela Lamb, David Young, Ian James Ramage, Ben Christopher Reynolds
OBJECTIVE: Management of anemia of chronic kidney disease (CKD) often includes subcutaneous or intravenous administration of erythropoietin-stimulating agents (ESAs). Mircera, a pegylated continuous erythropoietin receptor agonist, has a longer duration of action and requires less frequent administration than other ESAs. Pediatric experience with Mircera is limited. We retrospectively reviewed our long-term experience of Mircera in a national pediatric nephrology center. METHODS: Patients were identified via an electronic patient record database...
2023: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://read.qxmd.com/read/38128605/unmet-needs-in-%C3%AE-thalassemia-and-the-evolving-treatment-landscape
#36
REVIEW
Ryan Njeim, Bilal Naouss, Rayan Bou-Fakhredin, Antoine Haddad, Ali Taher
β-thalassemias are genetic disorders causing an imbalance in hemoglobin production, leading to varying degrees of anemia, with two clinical phenotypes: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT). Red blood cell transfusions and iron chelation therapy are the conventional treatment options for the management of β-thalassemia. Currently available conventional therapies in thalassemia have many challenges and limitations. Accordingly, multiple novel therapeutic approaches are currently being developed for the treatment of β-thalassemias...
December 19, 2023: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://read.qxmd.com/read/38127226/congenital-dyserythropoietic-anemia-type-ii-in-a-newborn-with-a-novel-compound-heterozygous-mutation-in-the-sec23b-a-case-report-and-review-of-the-literature
#37
JOURNAL ARTICLE
Jiajia Zheng, Li Gao, Hu Liu, Peifang Xiao, Jun Lu, Jie Li, Shuiyan Wu, Shengqin Cheng, Xinni Bian, Zhizhuo Du, Lingjun Kong, Shaoyan Hu, Junjie Fan
Congenital dyserythropoietic anemia type II (CDA II) refers to a group of extremely rare heterozygous disorders characterized by ineffective erythropoiesis and morphological abnormalities of erythrocytes and bone marrow erythroblasts. Six types of CDA with differing heterogenous genetic mutations have been identified to date. Due to the genetic and clinical heterogeneity of CDA, accurate diagnosis can be very challenging, especially with the clinical overlap observed between CDA and other dyserythropoietic diseases...
December 21, 2023: International Journal of Hematology
https://read.qxmd.com/read/38123660/targeting-hypoxia-inducible-factors-therapeutic-opportunities-and-challenges
#38
REVIEW
Xiaoyi Yuan, Wei Ruan, Bentley Bobrow, Peter Carmeliet, Holger K Eltzschig
Hypoxia-inducible factors (HIFs) are highly conserved transcription factors that are crucial for adaptation of metazoans to limited oxygen availability. Recently, HIF activation and inhibition have emerged as therapeutic targets in various human diseases. Pharmacologically desirable effects of HIF activation include erythropoiesis stimulation, cellular metabolism optimization during hypoxia and adaptive responses during ischaemia and inflammation. By contrast, HIF inhibition has been explored as a therapy for various cancers, retinal neovascularization and pulmonary hypertension...
December 20, 2023: Nature Reviews. Drug Discovery
https://read.qxmd.com/read/38111209/cardiovascular-safety-of-current-and-emerging-drugs-to-treat-anaemia-in-chronic-kidney-disease-a-safety-review
#39
REVIEW
Francesco Locatelli, Ernesto Paoletti, Lucia Del Vecchio
INTRODUCTION: Erythropoiesis-stimulating agents (ESAs) are the standard of treatment for anemia in chronic kidney disease. Hypoxia-inducible factor prolyl hydroxylase inhibitors (HIF-PHI) are small molecules that stimulate endogenous erythropoietin synthesis. AREAS COVERED: The cardiovascular safety of ESAs and HIF-PHIs. We performed a PubMed search using several key words, including anemia, chronic kidney disease, safety, erythropoiesis stimulating agents, HIF-PH inhibitors...
2023: Expert Opinion on Drug Safety
https://read.qxmd.com/read/38100154/defining-curative-endpoints-for-transfusion-dependent-%C3%AE-thalassemia-in-the-era-of-gene-therapy-and-gene-editing
#40
REVIEW
Selim Corbacioglu, Haydar Frangoul, Franco Locatelli, William Hobbs, Mark Walters
β-thalassemia is a monogenic disease that results in varying degrees of anemia. In the most severe form, known as transfusion-dependent β-thalassemia (TDT), the clinical hallmarks are ineffective erythropoiesis and a requirement of regular, life-long red blood cell transfusions, with the development of secondary clinical complications such as iron overload, end-organ damage, and a risk of early mortality. With the exception of allogeneic hematopoietic cell transplantation, current treatments for TDT address disease symptoms and not the underlying cause of disease...
December 15, 2023: American Journal of Hematology
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