Database : MEDLINE
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[PMID]: 29438816
[Au] Autor:Mufarrih SH; Malik AT; Qureshi NQ; Lakdawala RH; Rabbani MU; Ali A; Noordin S
[Ad] Address:Aga Khan University Medical College, Pakistan. Electronic address: hamzamufarrih@live.com.
[Ti] Title:The effect of tranexamic acid in unilateral and bilateral total knee arthroplasty in the South Asian population: A retrospective cohort study.
[So] Source:Int J Surg;52:25-29, 2018 Feb 10.
[Is] ISSN:1743-9159
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Together with evidence of higher bleeding tendencies, the vulnerability of the South-Asian population to anemia secondary to a higher prevalence of hemoglobinopathies and micronutrient deficiencies merits further exploration of the effects of tranexamic acid on this population. Additionally, limited access to self-care facilities and certain sociocultural beliefs and practices may not be conducive to a speedy recovery from surgical complications. The aim of this study is to investigate the effects of intraoperative administration of tranexamic acid during total knee arthroplasty when considering the South-Asian population. METHODOLOGY: Medical record files of 355 patients who underwent total knee arthroplasty (2007-2015) were reviewed to collect data regarding patient characteristics, surgical variables and post-operative complications. Unilateral and Bilateral total knee arthroplasty were studied separately. Analysis was done using t-test, Mann-Whitney U test, chi-square and Fisher's exact square where appropriate. The threshold for significance was p < 0.05. RESULTS: The study showed that for unilateral surgery, tranexamic acid caused a significant reduction in estimated blood loss (p-value=0.011), total operative time, calculated blood loss, and hemoglobin change (p-value<0.001) whereas in bilateral surgery, tranexamic acid only caused a significant reduction in calculated blood loss (p-value < 0.001) and hemoglobin change (p-value=0.001). Interestingly, in those who received tranexamic acid vs. those who did not, there was a significant increase in length of hospital stay (p<0.001) and special care unit admissions (p-value=0.033) in unilateral and bilateral surgery respectively. CONCLUSIONS: Although tranexamic acid effectively reduces intraoperative blood loss, it does not have an effect on the need for post-operative blood transfusions. The increased length of stay and special care unit admissions associated with tranexamic acid use should be explored further to reveal the complete safety profile of tranexamic acid administration in the South-Asian population during total knee arthroplasty.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 5143 MEDLINE  
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[PMID]: 29389946
[Au] Autor:Okhovat MA; Ziari K; Ranjbaran R; Nikouyan N
[Ad] Address:Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.
[Ti] Title:The effect of histone deacetylase inhibitors on AHSP expression.
[So] Source:PLoS One;13(2):e0189267, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Alpha-hemoglobin stabilizing protein (AHSP) is a molecular chaperone that can reduce the damage caused by excess free α-globin to erythroid cells in patients with impaired ß-globin chain synthesis. We assessed the effect of sodium phenylbutyrate and sodium valproate, two histone deacetylase inhibitors (HDIs) that are being studied for the treatment of hemoglobinopathies, on the expression of AHSP, BCL11A (all isoforms), γ-globin genes (HBG1/2), and some related transcription factors including GATA1, NFE2, EKLF, KLF4, and STAT3. For this purpose, the K562 cell line was cultured for 2, 4, and 6 days in the presence and absence of sodium phenylbutyrate and sodium valproate. Relative real-time qRT-PCR analysis of mRNA levels was performed to determine the effects of the two compounds on gene expression. Expression of all target mRNAs increased significantly (p < 0.05), except for the expression of BCL11A, which was down-regulated (p < 0.05) in the cells treated with both compounds relative to the levels measured for untreated cells. The findings indicated that sodium valproate had a more considerable effect than sodium phenylbutyrate (p < 0.0005) on BCL11A repression and the up-regulation of other studied genes. γ-Globin and AHSP gene expression continuously increased during the culture period in the treated cells, with the highest gene expression observed for 1 mM sodium valproate after 6 days. Both compounds repressed the expression of BCL11A (-XL, -L, -S) and up-regulated GATA1, NFE2, EKLF, KLF4, STAT3, AHSP, and γ-globin genes expression. Moreover, sodium valproate showed a stronger effect on repressing BCL11A and escalating the expression of other target genes. The findings of this in vitro experiment could be considered in selecting drugs for clinical use in patients with ß-hemoglobinopathies.
[Mh] MeSH terms primary: Blood Proteins/metabolism
Histone Deacetylase Inhibitors/pharmacology
Molecular Chaperones/metabolism
[Mh] MeSH terms secundary: Gene Expression Regulation/drug effects
Hemoglobinopathies/drug therapy
Hemoglobinopathies/genetics
Histone Deacetylase Inhibitors/therapeutic use
Humans
K562 Cells
Phenylbutyrates/pharmacology
Real-Time Polymerase Chain Reaction
Valproic Acid/pharmacology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (AHSP protein, human); 0 (Blood Proteins); 0 (Histone Deacetylase Inhibitors); 0 (Molecular Chaperones); 0 (Phenylbutyrates); 614OI1Z5WI (Valproic Acid); 7WY7YBI87E (4-phenylbutyric acid)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180202
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0189267

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[PMID]: 29519868
[Au] Autor:Khaibullina A; Adjei EA; Afangbedji N; Ivanov A; Kumari N; Almeida LEF; Quezado ZMN; Nekhai S; Jerebtsova M
[Ad] Address:Center for Sickle Cell Disease and Departments, Howard University, Washington, DC.
[Ti] Title:RON kinase inhibition reduces renal endothelial injury in sickle cell disease mice.
[So] Source:Haematologica;, 2018 Mar 08.
[Is] ISSN:1592-8721
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract:Sickle cell disease patients are at increased risk of developing a chronic kidney disease. Endothelial dysfunction and inflammation associated with hemolysis lead to vasculopathy and contribute to the development of renal disease. Here we used a Townes sickle cell disease mouse model to examine renal endothelial injury. Renal disease in Townes mice was associated with glomerular hypertrophy, capillary dilation and congestion, and significant endothelial injury. We also detected substantial renal macrophage infiltration, and accumulation of macrophage stimulating protein 1 in glomerular capillary. Treatment of human cultured macrophages with hemin or red blood cell lysates significantly increased expression of macrophage membrane-associated protease that might cleave and activate circulating macrophage stimulating protein 1 precursor. Macrophage stimulating protein 1 binds to and activates RON kinase, a cell surface receptor tyrosine kinase. In cultured human renal glomerular endothelial cells, macrophage stimulating protein 1 induced RON downstream signaling, resulting in increased phosphorylation of ERK and AKT kinases, expression Von Willebrand factor, increased cell motility, and re-organization of F-actin. Specificity of macrophage stimulating protein 1 function was confirmed by treatment with RON kinase inhibitor BMS-777607 that significantly reduced downstream signaling. Moreover, treatment of sickle cell mice with BMS-777607 significantly reduced glomerular hypertrophy, capillary dilation and congestion, and endothelial injury. Taken together, our findings demonstrated that RON kinase is involved in the induction of renal endothelial injury in sickle cell mice. Inhibition of RON kinase activation may provide a novel approach for prevention of renal disease development in sickle cell disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  4 / 5143 MEDLINE  
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[PMID]: 29519807
[Au] Autor:Antoniani C; Meneghini V; Lattanzi A; Felix T; Romano O; Magrin E; Weber L; Pavani G; El Hoss S; Kurita R; Nakamura Y; Cradick TJ; Lundberg AS; Porteus M; Amendola M; El Nemer W; Cavazzana M; Mavilio F; Miccio A
[Ad] Address:Laboratory of chromatin and gene regulation during development, Imagine Institute, INSERM UMR1163, Paris, France.
[Ti] Title:Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human ß-globin locus.
[So] Source:Blood;, 2018 Mar 08.
[Is] ISSN:1528-0020
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Naturally occurring, large deletions in the ß-globin locus result in hereditary persistence of fetal hemoglobin, a condition that mitigates the clinical severity of sickle-cell disease (SCD) and ß-thalassemia. We designed a CRISPR/Cas9 strategy to disrupt a 13.6-kb genomic region encompassing the δ- and ß-globin genes and a putative γ-δ intergenic fetal hemoglobin (HbF) silencer. Disruption of just the putative HbF silencer results in a mild increase in γ-globin expression, whereas deletion or inversion of a 13.6-kb region causes a robust re-activation of HbF synthesis in adult erythroblasts, associated with epigenetic modifications and changes in the chromatin contacts within the ß-globin locus. In primary, SCD patient-derived hematopoietic stem/progenitor cells, targeting the 13.6-kb region results in high proportion of γ-globin expression in erythroblasts, increased HbF synthesis, and amelioration of the sickling cell phenotype. Overall, this study provides clues for a potential genome editing approach to the therapy of ß-hemoglobinopathies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  5 / 5143 MEDLINE  
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[PMID]: 29365076
[Au] Autor:Riou J; Szuberski J; Godart C; Wajcman H; Oliveira JL; Hoyer JD; Bardakdjian-Michau J
[Ad] Address:Genetic Biochemistry Department, Henri Mondor Hospital, Creteil, France.
[Ti] Title:Precision of CAPILLARYS 2 for the Detection of Hemoglobin Variants Based on Their Migration Positions.
[So] Source:Am J Clin Pathol;149(2):172-180, 2018 Jan 29.
[Is] ISSN:1943-7722
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Objectives: In this report, we evaluated utility of the capillary electrophoresis (CE) migration position of the CAPILLARYS 2 CE instrument. Methods: The precision of this x-axis number was determined on a selection of common hemoglobin (Hb) variants (Hb S, Hb C, Hb D-Punjab, Hb E, Hb Hope), and the reproducibility of this number was evaluated by comparing the results obtained by two large reference laboratories on 81 Hb variants. Additionally, the CE migration position is given for a total of 409 Hb variants. Results: The x-axis migration position showed excellent intra- and interassay precision. Comparison of Hb variants seen by both laboratories showed that 83% had a difference in migration position of 1 unit or less. Only three rare Hb variants showed a difference of more than 2 units. Conclusion: In summary, the CE migration position is a reproducible value and can be used as an aid in the identification of Hb variants.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1093/ajcp/aqx148

  6 / 5143 MEDLINE  
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[PMID]: 29346667
[Au] Autor:Joneja U; Gulati G; Florea AD; Gong J
[Ad] Address:Department of Pathology, Anatomy and Cell Biology, Sydney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA.
[Ti] Title:The Results of Hemoglobin Variant Analysis in Patients Revealing Microcytic Erythrocytosis on Complete Blood Count.
[So] Source:Lab Med;, 2018 Jan 13.
[Is] ISSN:1943-7730
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Background: Microcytic erythrocytosis is an underrecognized and underevaluated complete blood count (CBC) finding. The literature pertaining to the determination of its etiology specifically by hemoglobin variant analysis is limited. Methods: We performed hemoglobin variant analysis by high performance liquid chromatography on 137 patients who revealed microcytic erythrocytosis on CBC, and reviewed the results for the diagnosis of hemoglobin-associated disorders. Results: A diagnosis of thalassemia trait and/or a hemoglobinopathy was established in 93 of 137 (67.9%) patients. Amongst these, ß-thalassemia trait topped the list with 69 cases (74.1%), followed by hereditary persistence of fetal hemoglobin with 5 cases (5.5%), Hemoglobin E disease with 4 cases (4.3%), and ∂/ß-thalassemia with 2 cases (2.1%). Compound heterozygous conditions with 1 or more hemoglobinopathies and/or thalassemias were diagnosed in 13 cases (14.0%). Abnormal hemoglobins in the compound heterozygosity group included C, S, HPFH, and 2 unknowns. Conclusion: Hemoglobin variant analysis provided a very high positive yield in determining the etiology of microcytic erythrocytosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/labmed/lmx071

  7 / 5143 MEDLINE  
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[PMID]: 29345507
[Au] Autor:Armstrong AG; Kimler BF; Smith BM; Woodruff TK; Pavone ME; Duncan FE
[Ad] Address:University of Kansas School of Medicine, Wichita, KS 67214, USA.
[Ti] Title:Ovarian tissue cryopreservation in young females through the Oncofertility Consortium's National Physicians Cooperative.
[So] Source:Future Oncol;14(4):363-378, 2018 Feb.
[Is] ISSN:1744-8301
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:AIM: To characterize the clinical indications of females (<15 years old) undergoing ovarian tissue cryopreservation (OTC) through the Oncofertility Consortium's National Physicians Cooperative (OC-NPC). PATIENTS & METHODS: The clinical indications of 114 females who underwent OTC were classified, and their incidence was compared with childhood cancer databases. RESULTS: Leukemias/myeloproliferative diseases/myelodysplastic diseases and hemoglobinopathies were the most prevalent oncologic and nononcologic indications for OTC, respectively. The frequencies of malignant bone tumors and soft tissue and other extraosseous sarcomas were higher in the OC-NPC cohort relative to the general population, while CNS/intracranial/intraspinal neoplasms, retinoblastoma and hepatic tumors were lower. CONCLUSION: Those opting for OTC through the OC-NPC are at highest fertility risk, indicating that the appropriate patient populations are being identified. [Formula: see text].
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process
[do] DOI:10.2217/fon-2017-0410

  8 / 5143 MEDLINE  
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[PMID]: 29221807
[Au] Autor:Bhukhai K; de Dreuzy E; Giorgi M; Colomb C; Negre O; Denaro M; Gillet-Legrand B; Cheuzeville J; Paulard A; Trebeden-Negre H; Borwornpinyo S; Sii-Felice K; Maouche L; Down JD; Leboulch P; Payen E
[Ad] Address:CEA, Institute of Biology François Jacob, Fontenay aux Roses 92260, France; UMR_007, CEA and University of Paris Saclay, Fontenay aux Roses 92260, France.
[Ti] Title:Ex Vivo Selection of Transduced Hematopoietic Stem Cells for Gene Therapy of ß-Hemoglobinopathies.
[So] Source:Mol Ther;26(2):480-495, 2018 Feb 07.
[Is] ISSN:1525-0024
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Although gene transfer to hematopoietic stem cells (HSCs) has shown therapeutic efficacy in recent trials for several individuals with inherited disorders, transduction incompleteness of the HSC population remains a hurdle to yield a cure for all patients with reasonably low integrated vector numbers. In previous attempts at HSC selection, massive loss of transduced HSCs, contamination with non-transduced cells, or lack of applicability to large cell populations has rendered the procedures out of reach for human applications. Here, we fused codon-optimized puromycin N-acetyltransferase to herpes simplex virus thymidine kinase. When expressed from a ubiquitous promoter within a complex lentiviral vector comprising the ß -globin gene, viral titers and therapeutic gene expression were maintained at effective levels. Complete selection and preservation of transduced HSCs were achieved after brief exposure to puromycin in the presence of MDR1 blocking agents, suggesting the procedure's suitability for human clinical applications while affording the additional safety of conditional suicide.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review

  9 / 5143 MEDLINE  
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[PMID]: 29489976
[Au] Autor:Ribeiro MVMR; Jucá JVO; Alves ALCDS; Ferreira CVO; Barbosa FT; Ribeiro ÊAN
[Ad] Address:Universidade Tiradentes, Maceió, AL, Brazil.
[Ti] Title:Sickle cell retinopathy: A literature review.
[So] Source:Rev Assoc Med Bras (1992);63(12):1100-1103, 2017 Dec.
[Is] ISSN:1806-9282
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:Hemoglobinopathies are a group of hereditary diseases that cause quantitative or qualitative changes in the shape, function or synthesis of hemoglobin. One of the most common is sickle cell anemia, which, due to sickling of erythrocytes, causes vaso-occlusive phenomena. Among the possible ocular manifestations, the most representative is retinopathy, which can lead to blindness if left untreated. Therefore, periodic ophthalmologic monitoring of these patients is important for early diagnosis and adequate therapeutic management, which can be done localy by treating the lesions in the eyes, or systemically.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:In-Process

  10 / 5143 MEDLINE  
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[PMID]: 29319890
[Au] Autor:Scheps KG; Hasenahuer MA; Parisi G; Targovnik HM; García E; Veber ES; Crisp R; Elena G; Varela V; Fornasari MS
[Ad] Address:Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética, Universidad de Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina.
[Ti] Title:Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the ß-globin chain.
[So] Source:Eur J Haematol;, 2018 Jan 10.
[Is] ISSN:1600-0609
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. The aim of this work was the molecular and structural characterization of two heterozygous in-frame deletions, leading to ß-globin variants in pediatric patients in Argentina. The HBB gene of the probands and their parents was sequenced, and other markers of globin chain imbalance were analyzed. Several structural analyses were performed, and the effect of the mutations on the globin chain stability was analyzed. In Hb JC-Paz, HBB:c.29_37delCTGCCGTTA (p.Ala10_Thr12del), detected in an Argentinean boy, one α-helix turn is expected to be lost. In Hb Tavapy, HBB:c.182_187delTGAAGG (p.Val60_Lys61del), the deleted residues are close to distal histidine (His63) in the heme pocket. Both mutations are predicted to have a destabilizing effect. The development of computational structural models and bioinformatics algorithms is expected to become a useful tool to understand the impact of the mutations leading to dominant thalassemia.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.1111/ejh.13029


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