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Sideroblastic Anemia

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1. The phenotypic spectrum of germline <i>YARS2</i> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. (PubMed)

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA for mitochondrial protein synthesis. Here we describe 14 individuals from 11 (...) families presenting with sideroblastic anemia and with YARS2 variants that we identified using a sideroblastic anemia gene panel or exome sequencing. The phenotype of these patients ranged from MLASA to isolated congenital sideroblastic anemia. As in previous cases, inter- and intra-familial phenotypic variability was observed, however this report includes the first cases with isolated sideroblastic anemia and patients with biallelic YARS2 variants that have no clinically ascertainable phenotype. We

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2018 Haematologica

2. A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia (PubMed)

A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia 29419427 2019 03 06 1592-8721 103 5 2018 05 Haematologica Haematologica A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia. e188-e191 10.3324/haematol.2017.179770 Hatta Shunsuke S Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai

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2018 Haematologica

3. Five‐day regimen of azacitidine for lower‐risk myelodysplastic syndromes (refractory anemia or refractory anemia with ringed sideroblasts): A prospective single‐arm phase 2 trial (PubMed)

Five‐day regimen of azacitidine for lower‐risk myelodysplastic syndromes (refractory anemia or refractory anemia with ringed sideroblasts): A prospective single‐arm phase 2 trial Although azacitidine is the first-line drug for higher-risk myelodysplastic syndrome (MDS) patients, its efficacy for lower-risk MDS remains unestablished. Therefore, we conducted a prospective study to examine the efficacy and safety of a 5-day regimen of azacitidine (AZA-5) for lower-risk MDS. The primary (...) endpoint was hematological improvement (HI) after 4 courses of therapy. A total of 51 patients with lower-risk MDS based on the French-American-British (FAB) classification (44 patients with refractory anemia [RA] and 7 patients with refractory anemia with ringed sideroblasts [RARS]) were enrolled from 6 centers in Japan. The median age was 75 years (range: 51-88). These patients received AZA-5 (75 mg/m2 ; once daily for 5 sequential days). The median number of AZA-5 courses was 8 (range: 1-57), and 45

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2018 Cancer science

4. Refractory Anemia with Ring Sideroblasts (RARS) and RARS with Thrombocytosis (RARS-T) - "2019 Update on Diagnosis, Risk-stratification, and Management". (PubMed)

Refractory Anemia with Ring Sideroblasts (RARS) and RARS with Thrombocytosis (RARS-T) - "2019 Update on Diagnosis, Risk-stratification, and Management". Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic (...) and are managed similar to lower-risk MDS and MPN. The advent of luspatercept, a first-in-class erythroid maturation agent will tremendously boost the ability to manage anemia. Aspirin therapy is reasonable in MDS/MPN-RS-T, especially in the presence of JAK2V617F, but the value of platelet-lowering drugs remains uncertain.© 2019 Wiley Periodicals, Inc.

2019 American journal of hematology

5. Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia (PubMed)

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented. Her transfusion dependence was fully reversed following allogeneic hematopoietic stem cell transplantation using a modified reduced-intensity conditioning regimen, and she remains healthy 5 years posttransplant.

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2018 Clinical Case Reports

6. Anemia with thrombocytosis in an elderly male: a case of myelodysplastic syndrome-myeloproliferative neoplasm with ringed sideroblasts and thrombocytosis (PubMed)

Anemia with thrombocytosis in an elderly male: a case of myelodysplastic syndrome-myeloproliferative neoplasm with ringed sideroblasts and thrombocytosis 30370419 2019 02 26 2531-1387 40 4 2018 Oct-Dec Hematology, transfusion and cell therapy Hematol Transfus Cell Ther Anemia with thrombocytosis in an elderly male: a case of myelodysplastic syndrome-myeloproliferative neoplasm with ringed sideroblasts and thrombocytosis. 385-388 10.1016/j.htct.2018.02.005 Kumar Ashutosh A King George's Medical

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2018 Hematology, Transfusion and Cell Therapy

7. Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing (PubMed)

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing 29611395 2019 02 20 2019 03 20 2234-3814 38 4 2018 07 Annals of laboratory medicine Ann Lab Med Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing. 389-392 10.3343/alm.2018.38.4.389 Yu Hui Jin HJ Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea. Lee Young Ju YJ (...) . hl.jung@samsung.com. Kwon Min Jung MJ Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea. mjkkmd@gmail.com. eng Case Reports Letter Korea (South) Ann Lab Med 101571172 2234-3806 0 Hemoglobins 12001-76-2 Vitamin B Complex EC 2.3.1.37 5-Aminolevulinate Synthetase EC 2.3.1.37 ALAS2 protein, human KV2JZ1BI6Z Pyridoxine X-linked sideroblastic anemia IM 5-Aminolevulinate Synthetase chemistry genetics Anemia, Sideroblastic diagnosis drug

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2018 Annals of laboratory medicine

8. The molecular genetics of sideroblastic anemia. (PubMed)

The molecular genetics of sideroblastic anemia. The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of erythroid precursors. Like most hematological diseases, the molecular genetic basis of the SAs has ridden the wave of technology advancement. Within the last 30 years, with the advent of positional cloning, the human genome project, solid-state genotyping technologies, and next-generation

2018 Blood

9. Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management. (PubMed)

Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management. Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic (...) that of essential thrombocythemia. Both diseases have a low risk of leukemic TREATMENT: Anemia and iron overload are complications seen in both and are managed similar to lower risk MDS and MPN. Aspirin therapy is reasonable in MDS/MPN-RS-T, especially in the presence of JAK2V617F, but the value of platelet-lowering drugs is uncertain.© 2017 Wiley Periodicals, Inc.

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2017 American journal of hematology

10. A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation (PubMed)

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation 28832011 2018 10 05 2018 11 13 1308-5263 34 4 2017 12 01 Turkish journal of haematology : official journal of Turkish Society of Haematology Turk J Haematol A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation. 376-377 10.4274/tjh.2017.0231 Kasapkara Çiğdem Seher ÇS Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey. Tümer Leyla L Gazi (...) Kingdom. eng Case Reports Letter PUS1 Geninde Yeni Mutasyon Saptanan Miyopati, Laktik Asidoz, Sideroblastik Anemi (MLASA) Olgusu. 2017 08 23 Turkey Turk J Haematol 9606065 1300-7777 EC 4.2.1.- Hydro-Lyases EC 4.2.1.70 pseudouridylate synthetase IM Acidosis, Lactic genetics therapy Anemia, Sideroblastic genetics therapy Humans Hydro-Lyases genetics Infant Male Muscular Diseases genetics therapy Mutation 2017 8 24 6 0 2018 10 6 6 0 2017 8 24 6 0 ppublish 28832011 10.4274/tjh.2017.0231 PMC5774363 Mol

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2017 Turkish Journal of Hematology

11. Comment: In Response to “Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome” (PubMed)

Comment: In Response to “Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome” 27956372 2018 07 10 2018 12 02 1308-5263 34 1 2017 03 01 Turkish journal of haematology : official journal of Turkish Society of Haematology Turk J Haematol Comment: In Response to "Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome". 100-101 10.4274/tjh.2016.0466 Gajendra Smeeta S Medanta-the Medicity, Department of Pathology and Laboratory Medicine (...) , Gurgaon, India Phone: +09013590875 E-mail: drsmeeta@gmail.com. eng Journal Article Comment Yorum: “Halka Sideroblastlı Megaloblastik Anemi Her Zaman Miyelodisplastik Sendrom Olmayabilir”e Yanıt. 2016 12 12 Turkey Turk J Haematol 9606065 1300-7777 IM Turk J Haematol. 2016 Dec 1;33(4):358-359 27466740 Anemia, Megaloblastic Anemia, Sideroblastic Erythroid Precursor Cells Humans Myelodysplastic Syndromes 2016 12 14 6 0 2018 7 11 6 0 2016 12 14 6 0 ppublish 27956372 10.4274/tjh.2016.0466 PMC5451669

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2017 Turkish Journal of Hematology

12. Refractory anemia with ring sideroblasts and thrombocytosis (PubMed)

Refractory anemia with ring sideroblasts and thrombocytosis 28401094 2019 02 26 2287-979X 52 1 2017 Mar Blood research Blood Res Refractory anemia with ring sideroblasts and thrombocytosis. 8 10.5045/br.2017.52.1.8 Pradhan Sarita S Department of Pathology, IMS &SUM Hospital, Bhubaneswar, India. eng Case Reports 2017 03 27 Korea (South) Blood Res 101605247 2287-979X 2015 12 29 2016 01 21 2016 02 09 2017 4 13 6 0 2017 4 13 6 0 2017 4 13 6 1 ppublish 28401094 10.5045/br.2017.52.1.8 PMC5383598

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2017 Blood research

13. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. (PubMed)

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the "supernumerary" group of subunits, but proved to be absolutely essential for the assembly of an active complex I. Mutations in the X-linked nuclear-encoded NDUFB11 gene have recently been discovered in association with two distinct phenotypes, i.e. microphthalmia (...) with linear skin defects and histiocytoid cardiomyopathy. We report on a male with complex I deficiency, caused by a de novo mutation in NDUFB11 and displaying early-onset sideroblastic anemia as the unique feature. This is the third report that describes a mutation in NDUFB11, but all are associated with a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects.© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

2016 Clinical Genetics

14. Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. (PubMed)

Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. Heterozygous somatic mutations affecting the spliceosome gene SF3B1 drive age-related clonal hematopoiesis, myelodysplastic syndromes (MDS) and other neoplasms. To study their role in such disorders, we generated knock-in mice with hematopoietic-specific expression of Sf3b1-K700E, the commonest type of SF3B1 mutation in MDS. Sf3b1K700E/+ animals had impaired (...) erythropoiesis and progressive anemia without ringed sideroblasts, as well as reduced hematopoietic stem cell numbers and host-repopulating fitness. To understand the molecular basis of these observations, we analyzed global RNA splicing in Sf3b1K700E/+ hematopoietic cells. Aberrant splicing was associated with the usage of cryptic 3' splice and branchpoint sites, as described for human SF3B1 mutants. However, we found a little overlap between aberrantly spliced mRNAs in mouse versus human, suggesting

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2016 Leukemia

15. Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia (PubMed)

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutations in the SLC25A38 gene. The current treatment for SLC25A38 congenital sideroblastic anemia is chronic blood (...) glycine importer, and we identify a second SLC25 family member Ymc1, as a potential secondary mitochondrial glycine importer. Based on these findings, we observed that high levels of exogenous glycine, or 5-aminolevulinic acid (5-Ala) a metabolite downstream of Hem25 in heme biosynthetic pathway, were able to restore heme levels to normal in yeast cells lacking Hem25 function. While neither glycine nor 5-Ala could ameliorate SLC25A38 congenital sideroblastic anemia in a zebrafish model, we determined

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2016 PLoS genetics

16. Imetelstat therapy in refractory anemia with ring sideroblasts with or without thrombocytosis (PubMed)

Imetelstat therapy in refractory anemia with ring sideroblasts with or without thrombocytosis 26967822 2016 10 13 2018 12 02 2044-5385 6 2016 Mar 11 Blood cancer journal Blood Cancer J Imetelstat therapy in refractory anemia with ring sideroblasts with or without thrombocytosis. e405 10.1038/bcj.2016.13 Tefferi A A Division of Hematology, Mayo Clinic, Rochester, MN, USA. Al-Kali A A Division of Hematology, Mayo Clinic, Rochester, MN, USA. Begna K H KH Division of Hematology, Mayo Clinic (...) Niacinamide F60NE4XB53 imetelstat IM Anemia, Refractory complications diagnosis drug therapy genetics Anemia, Sideroblastic complications diagnosis drug therapy genetics Combined Modality Therapy Humans Indoles therapeutic use Niacinamide analogs & derivatives therapeutic use Oligonucleotides Thrombocytosis complications diagnosis 2016 3 12 6 0 2016 3 12 6 0 2016 10 14 6 0 epublish 26967822 bcj201613 10.1038/bcj.2016.13 PMC4817097 Blood. 2009 Jul 30;114(5):937-51 19357394 Leukemia. 2013 Sep;27(9):1826-31

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2016 Blood cancer journal

17. Management of differentiation syndrome in an elderly patient with acute promyelocytic leukemia who developed refractory anemia with ring sideroblasts (PubMed)

Management of differentiation syndrome in an elderly patient with acute promyelocytic leukemia who developed refractory anemia with ring sideroblasts 27073113 2018 03 19 2019 01 16 1029-2403 57 12 2016 12 Leukemia & lymphoma Leuk. Lymphoma Management of differentiation syndrome in an elderly patient with acute promyelocytic leukemia who subsequently developed refractory anemia with ring sideroblasts. 2905-2907 Denu Ryan A RA a Medical Scientist Training Program, University of Wisconsin-Madison (...) and Public Health , Madison , WI , USA. eng T32 GM008692 GM NIGMS NIH HHS United States Case Reports Letter 2016 04 13 United States Leuk Lymphoma 9007422 1026-8022 IM Aged Anemia, Refractory complications pathology therapy Anemia, Sideroblastic complications pathology therapy Cell Differentiation Humans Leukemia, Promyelocytic, Acute complications pathology therapy Male Respiratory Distress Syndrome, Adult etiology pathology therapy Syndrome 2016 4 14 6 0 2018 3 20 6 0 2016 4 14 6 0 ppublish 27073113

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2016 Leukemia & lymphoma

18. Sideroblastic Anemia

Sideroblastic Anemia Sideroblastic Anemia Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Sideroblastic Anemia Sideroblastic Anemia (...) Aka: Sideroblastic Anemia , Pearson Syndrome From Related Chapters II. Pathophysiology Defective heme metabolism III. Causes Toxin Exposure Lead exposure Chloramphenicol Neoplasm or inflammatory disease Carcinoma X-Linked recessive Sideroblastic Anemia Pearson Syndrome Vacuolation of marrow precursor cells Exocrine pancreatic dysfunction IV. Labs See See (MCV) <80 fl See MCV cutoff varies by age and per reference increased Hypochromic Ringed s V. Management Remove offending exposure (variable

2018 FP Notebook

19. Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing. (PubMed)

Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing. Refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) shares overlapping features of myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). RARS-T is characterized by SF3B1 and JAK2 mutations and prognosis is considered to be better than MDS but not as good as MPN. The objective of the study was to identify predictors (...) of survival in RARS-T. We analyzed clinical and laboratory variables in 82 patients and applied a 27-gene NGS assay to 48 marrow samples obtained at diagnosis. 94% of patients had ≥1 mutations; common mutations being: SF3B1 85%, JAK2V617F 33%, ASXL1 29%, DNMT3A 13%, SETBP1 13% and TET2 10%. In a multivariable survival analysis (n = 82), anemia (P = 0.02) [HB< 10 gm/dl: HR 2.3, 95% CI 1.2-4.6] and abnormal karyotype (P =.01) [HR 6.1, 95% CI 2.7-13.8] were independently prognostic for inferior survival

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2016 American journal of hematology

20. Vascular events and risk factors for thrombosis in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T). (PubMed)

Vascular events and risk factors for thrombosis in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T). 27479179 2018 03 09 2018 11 13 1476-5551 30 11 2016 11 Leukemia Leukemia Vascular events and risk factors for thrombosis in refractory anemia with ring sideroblasts and thrombocytosis. 2273-2275 10.1038/leu.2016.216 Patnaik M M MM Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA. Lasho T L TL Department of Hematology, Mayo Clinic (...) , USA. Tefferi A A Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA. eng KL2 TR000136 TR NCATS NIH HHS United States Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't 2016 08 01 England Leukemia 8704895 0887-6924 IM Aged Aged, 80 and over Anemia, Refractory complications Anemia, Sideroblastic complications Female Humans Male Middle Aged Risk Factors Survival Analysis Thrombocytosis complications Thrombosis complications 2016 11 3 6 0

2016 Leukemia

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