Search Results - "Albuquerque, Dulcineia M."
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Angiogenesis-Related Genes in Endothelial Progenitor Cells May Be Involved in Sickle Cell Stroke
Published in Journal of the American Heart Association (04-02-2020)“…Background The clinical aspects of sickle cell anemia (SCA) are heterogeneous, and different patients may present significantly different clinical evolutions…”
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2
Influence of UGT1A1 promoter polymorphism, α-thalassemia and βs haplotype in bilirubin levels and cholelithiasis in a large sickle cell anemia cohort
Published in Annals of hematology (01-04-2021)“…Hyperbilirubinemia in patients with sickle cell anemia (SCA) as a result of enhanced erythrocyte destruction, lead to cholelithiasis development in a subset of…”
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3
Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Published in Genetics and molecular biology (01-10-2017)“…Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical…”
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4
Surveillance of active human cytomegalovirus infection in hematopoietic stem cell transplantation (HLA sibling identical donor): search for optimal cutoff value by real-time PCR
Published in BMC infectious diseases (01-06-2010)“…Human cytomegalovirus (CMV) infection still causes significant morbidity and mortality after allogeneic hematopoietic stem cell transplantation (HSCT)…”
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5
Deferasirox associated with liver failure and death in a sickle cell anemia patient homozygous for the −1774delG polymorphism in the Abcc2 gene
Published in Clinical case reports (01-08-2017)“…Key Clinical Message This manuscript describes the case of a patient with sickle cell anemia who died of fulminant hepatitis after therapy with the iron…”
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6
MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease
Published in Genetic testing and molecular biomarkers (01-09-2012)“…Vaso-occlusion is a determinant for most signs and symptoms of sickle-cell anemia (SCA). The mechanisms involved in the pathogenesis of vascular complications…”
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7
Molecular characteristics and chromatin texture features in acute promyelocytic leukemia
Published in Diagnostic pathology (28-06-2012)“…Acute promyelocytic leukemia is a cytogenetically well defined entity. Nevertheless, some features observed at diagnosis are related to a worse outcome of the…”
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8
Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia
Published in Journal of clinical laboratory analysis (01-02-2019)“…Background There is paucity of data on the influence of alpha thalassemia on the clinical and laboratory parameters among Nigerian sickle cell anemia (SCA)…”
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9
Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian δβ-thalassemia, by BCL11A and SOX6-targeting microRNAs
Published in Experimental biology and medicine (Maywood, N.J.) (01-02-2017)“…Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) and Sicilian-δβ-thalassemia are conditions described as large deletions of the human β-like…”
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10
High levels of proinflammatory cytokines IL-6 and IL-8 are associated with a poor clinical outcome in sickle cell anemia
Published in Annals of hematology (01-05-2020)“…Sickle cell anemia (SCA) pathophysiology is characterized by the activation of sickle red blood cells, reticulocytes, leukocytes, platelets, and endothelial…”
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11
Reduced rate of sickle‐related complications in Brazilian patients carrying HbF‐promoting alleles at the BCL11A and HMIP‐2 loci
Published in British journal of haematology (01-05-2016)“…Summary The presence of high levels of fetal haemoglobin (HbF) provides well‐validated clinical benefits to patients with sickle cell anaemia (SCA)…”
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Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [β122 (GH5) Phe→Ser], a probable case of germ line mutation, and Hb Olinda [β22 (B4) ‐ 25 (B7)], a deletion of a 12 base‐pair sequence
Published in European journal of haematology (01-10-2009)“…We describe here two new unstable β‐globin variants, Hb Caruaru and Hb Olinda, found in northeastern Brazil, both associated with chronic haemolytic anaemia…”
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13
An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis
Published in Nature genetics (01-07-2006)“…Acquired somatic mutations in exon 2 of the hematopoietic transcription factor GATA-1 have been found in individuals with Down syndrome with both transient…”
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14
Thalassemia major phenotype caused by HB Zürich‐Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child
Published in Pediatric blood & cancer (01-12-2018)“…Hemoglobin (Hb) Zürich‐Albisrieden (ZA) [α2 59(E8) Gly > Arg; HBA2:c.178G > C] is a rare and highly unstable α‐chain variant. A few simple and compound…”
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15
Association of Nitric Oxide Synthase and Matrix Metalloprotease Single Nucleotide Polymorphisms with Preeclampsia and Its Complications
Published in PloS one (28-08-2015)“…Preeclampsia is one of the leading causes of maternal and neonatal morbidity and mortality in the world, but its appearance is still unpredictable and its…”
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16
Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease
Published in Annals of hematology (01-10-2016)“…Sickle cell disease (SCD) is a complex disease that is characterized by the polymerization of deoxyhemoglobin S, altered red blood cell membrane biology,…”
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17
Cytomegalovirus (CMV) genotype in allogeneic hematopoietic stem cell transplantation
Published in BMC infectious diseases (10-07-2013)“…Based on sequence variation in the UL55 gene that encodes glycoprotein B (gB), human cytomegalovirus (CMV) can be classified into four gB genotypes. Previous…”
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18
Reduced plasma angiotensin II levels are reversed by hydroxyurea treatment in mice with sickle cell disease
Published in Life sciences (1973) (04-11-2014)“…Sickle cell disease (SCD) pathogenesis leads to recurrent vaso-occlusive and hemolytic processes, causing numerous clinical complications including renal…”
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19
Hb S-São Paulo: A new sickling hemoglobin with stable polymers and decreased oxygen affinity
Published in Archives of biochemistry and biophysics (01-03-2012)“…► A new human β-globin variant was found: Hb S-São Paulo [HBB:c.20A>T p.Glu6Val; c.196A>G p.Lys65Glu]. ► The double-mutant caused clinical features of sickle…”
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Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia
Published in Hemoglobin (04-05-2017)“…Hb Bristol-Alesha [HBB: c.202G>A; β 67 Val>Met] is a rare structural variant of hemoglobin (Hb) resulting from a GTG>ATG substitution at codon 67 of the…”
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