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View article: Heme Modulates Bladder Contractility Through the HO–CO–sGC–cGMP Pathway: Insights into Sickle Cell Disease-Associated Bladder Dysfunction
Heme Modulates Bladder Contractility Through the HO–CO–sGC–cGMP Pathway: Insights into Sickle Cell Disease-Associated Bladder Dysfunction Open
Intravascular hemolysis, a hallmark of sickle cell disease (SCD), leads to elevated plasma heme levels. Although heme is essential for physiological processes, its excess can be deleterious. Heme oxygenase (HO) degrades heme into carbon mo…
View article: A new HDAC1/2 degrader increases HbF production in human CD34⁺ cells at non-cytotoxic, differentiation-preserving dose
A new HDAC1/2 degrader increases HbF production in human CD34⁺ cells at non-cytotoxic, differentiation-preserving dose Open
Introduction: The reactivation of HBG1/2 gene expression is a validated therapeutic strategy for treating β-hemoglobinopathies, such as sickle cell disease (SCD) and β-thalassemia. Currently, hydroxyurea (HU) is the only approved drug for …
View article: Evaluation of new deferasirox-derived compounds for the treatment of iron overload
Evaluation of new deferasirox-derived compounds for the treatment of iron overload Open
Introduction: Iron overload is a major complication in individuals requiring frequent blood transfusions or those with genetic iron disorders. Because the body lacks a natural mechanism for iron excretion, iron chelation therapy is essenti…
View article: Multidimensional profiling of dendritic cell and monocyte subsets in sickle cell anemia: Correlation with clinical and inflammatory parameters
Multidimensional profiling of dendritic cell and monocyte subsets in sickle cell anemia: Correlation with clinical and inflammatory parameters Open
Dendritic cells (DCs) and monocytes (Mo) are key components of the innate immune system, playing essential roles in initiating, polarizing, and regulating adaptive immune responses, maintaining inflammatory homeostasis, and surveilling per…
View article: Resveratrol and Its Nitric Oxide–Donor Hybrid as an Emerging Therapy for Oxidative-Stress-Driven Priapism in Sickle Cell Disease
Resveratrol and Its Nitric Oxide–Donor Hybrid as an Emerging Therapy for Oxidative-Stress-Driven Priapism in Sickle Cell Disease Open
Priapism is a frequent and debilitating complication in patients with sickle cell disease (SCD), characterized by recurrent ischemic episodes that can culminate in fibrosis of the erectile tissue and irreversible erectile dysfunction. Desp…
View article: Bladder Dysfunction in Sickle Cell Disease Is Associated with Inflammation and Oxidative Stress
Bladder Dysfunction in Sickle Cell Disease Is Associated with Inflammation and Oxidative Stress Open
Bladder dysfunction, particularly overactive bladder (OAB), is increasingly recognized as a clinical concern in patients with sickle cell disease (SCD), yet its pathophysiological mechanisms remain poorly understood. This study investigate…
View article: Caspase-1 activation drives vascular inflammatory processes and hypoperfusion in intravascular hemolysis
Caspase-1 activation drives vascular inflammatory processes and hypoperfusion in intravascular hemolysis Open
This study identifies caspase-1 as a driver of the microvascular leukocyte recruitment and hypoperfusion that is induced by intravascular hemolysis (IVH). Using in vivo models and heme-stimulated endothelial cells, we show that IVH rapidly…
View article: Evaluation of the podoplanin/C-type lectin-like receptor-2 (CLEC-2) pathway as a mediator of platelet and coagulation activation in sickle cell disease
Evaluation of the podoplanin/C-type lectin-like receptor-2 (CLEC-2) pathway as a mediator of platelet and coagulation activation in sickle cell disease Open
Our findings suggest that the PDPN/CLEC-2 pathway may play an important role in the pathogenesis of thromboinflammation in SCD, especially in patients with the SS genotype.
View article: Circulating Monocytes Contribute to Erythrocyte Clearance in Polycythemia Vera
Circulating Monocytes Contribute to Erythrocyte Clearance in Polycythemia Vera Open
Erythropoiesis is increased in polycythemia vera (PV), with proliferation of erythroid precursors, and macrophages from erythroblastic islands play a key role in this process. Circulating monocytes were shown to perform some of the macroph…
View article: Resveratrol attenuates the priapism phenotype in sickle cell mice by restoring NO-cGMP-PDE5 signaling and reducing NADPH oxidase 2 expression
Resveratrol attenuates the priapism phenotype in sickle cell mice by restoring NO-cGMP-PDE5 signaling and reducing NADPH oxidase 2 expression Open
The pathogenesis of priapism in sickle cell disease (SCD) is closely linked to oxidative stress and reduced bioavailability of nitric oxide (NO) in penile tissue. Resveratrol, a potent natural antioxidant, has demonstrated protective effec…
View article: Caspase-Driven Microvascular Inflammation and Hypoperfusion in Intravascular Hemolysis: Roles of Leukocyte and Endothelial Activation
Caspase-Driven Microvascular Inflammation and Hypoperfusion in Intravascular Hemolysis: Roles of Leukocyte and Endothelial Activation Open
Intravascular hemolysis (IVH), a pathological process associated with various conditions, triggers vascular responses; however, the molecular and cellular mechanisms driving this process remain unclear. To explore the role of NLRP3 inflamm…
View article: Targeting P-selectin and interleukin-1β in mice with sickle cell disease: effects on vaso-occlusion, liver injury and organ iron deposition
Targeting P-selectin and interleukin-1β in mice with sickle cell disease: effects on vaso-occlusion, liver injury and organ iron deposition Open
Continuous vaso-occlusive and inflammatory processes cause extensive end-organ damage in adults with sickle cell disease (SCD), and there is little evidence that longterm hydroxyurea therapy prevents this. In initial trials, P-selectin blo…
View article: Accompanying Hemoglobin Polymerization in Red Blood Cells in Patients with Sickle Cell Disease Using Fluorescence Lifetime Imaging
Accompanying Hemoglobin Polymerization in Red Blood Cells in Patients with Sickle Cell Disease Using Fluorescence Lifetime Imaging Open
In recent studies, it has been shown that fluorescence lifetime imaging (FLIM) may reveal intracellular structural details in unstained cytological preparations that are not revealed by standard staining procedures. The aim of our investig…
View article: Impact and Aggravating Factors of Chronic Pain in Sickle Cell Disease: Results of the Analysis of Promis® Questionnaires and the Metabolomic Profile of Brazilian Adult Patients
Impact and Aggravating Factors of Chronic Pain in Sickle Cell Disease: Results of the Analysis of Promis® Questionnaires and the Metabolomic Profile of Brazilian Adult Patients Open
Introduction and aims: Chronic pain is a frequent and debilitating complication of Sickle Cell Disease (SCD). The aim of this study was to evaluate the impact of chronic pain on the mental health and quality of life of patients, in additio…
View article: Heme Reduces the Contraction of Corpus Cavernosum Smooth Muscle through the HO-CO-sGC-cGMP Pathway: Its Implications for Priapism in Sickle Cell Disease
Heme Reduces the Contraction of Corpus Cavernosum Smooth Muscle through the HO-CO-sGC-cGMP Pathway: Its Implications for Priapism in Sickle Cell Disease Open
Introduction: Sickle cell disease (SCD) men display priapism. Clinical studies have shown a strong positive correlation between priapism and high levels of intravascular hemolysis in men with SCD. In SCD, the accumulation of plasma-free he…
View article: Accompanying Hemoglobin Polymerization in Red Blood Cells in Patients with Sickle Cell Disease Using Fluorescence Lifetime Imaging
Accompanying Hemoglobin Polymerization in Red Blood Cells in Patients with Sickle Cell Disease Using Fluorescence Lifetime Imaging Open
In recent studies it has been shown that fluorescence lifetime imaging (FLIM) may reveal intracellular structural details in unstained cytological preparations which are not revealed by standard staining procedures. The aim of this investi…
View article: The molecular mechanism responsible for HbSC retinopathy may depend on the action of the angiogenesis-related genes ROBO1 and SLC38A5
The molecular mechanism responsible for HbSC retinopathy may depend on the action of the angiogenesis-related genes ROBO1 and SLC38A5 Open
HbSC disease, a less severe form of sickle cell disease, affects the retina more frequently and patients have higher rates of proliferative retinopathy that can progress to vision loss. This study aimed to identify differences in the expre…
View article: Impact of intravascular hemolysis on functional and molecular alterations in the urinary bladder: implications for an overactive bladder in sickle cell disease
Impact of intravascular hemolysis on functional and molecular alterations in the urinary bladder: implications for an overactive bladder in sickle cell disease Open
Patients with sickle cell disease (SCD) display an overactive bladder (OAB). Intravascular hemolysis in SCD is associated with various severe SCD complications. However, no experimental studies have evaluated the effect of intravascular he…
View article: Targeting heme in sickle cell disease: new perspectives on priapism treatment
Targeting heme in sickle cell disease: new perspectives on priapism treatment Open
Men with sickle cell disease (SCD) frequently experience priapism, defined as prolonged, painful erections occurring without sexual arousal or desire. This urological emergency can lead to penile fibrosis and permanent erectile dysfunction…
View article: Sickle <scp>Cell Health Awareness, Perspectives,</scp> and <scp>Experiences</scp> (<scp>SHAPE</scp>) survey: <scp>Perspectives</scp> of adolescent and adult patients, caregivers, and healthcare professionals on the burden of sickle cell disease
Sickle <span>Cell Health Awareness, Perspectives,</span> and <span>Experiences</span> (<span>SHAPE</span>) survey: <span>Perspectives</span> of adolescent and adult patients, caregivers, and healthcare professionals on the burden of sickle cell disease Open
Objectives Sickle cell disease (SCD) is an inherited disorder that causes lifelong complications, substantially impacting the physical and emotional well‐being of patients and their caregivers. Studies investigating the effects of SCD on q…
View article: Investigation of BMP6 mutations in Brazilian patients with iron overload
Investigation of BMP6 mutations in Brazilian patients with iron overload Open
BMP6 mutations, when combined to other genetic and clinical risk factors, may contribute to IO. Functional studies and THE evaluation of large cohorts are necessary to fully address BMP6 role in IO.
View article: Montreal cognitive assessment in Brazilian adults with sickle cell disease: The burdens of poor sociocultural background
Montreal cognitive assessment in Brazilian adults with sickle cell disease: The burdens of poor sociocultural background Open
Sickle cell disease (SCD) patients are at higher risk of developing silent cerebral infarcts and overt stroke, which may reflect cognitive impairment, functional limitations, and worse quality of life. The cognitive function of Brazilian a…
View article: Sickle cell disease and increased adverse maternal and perinatal outcomes in different genotypes
Sickle cell disease and increased adverse maternal and perinatal outcomes in different genotypes Open
Sixty-two SCD pregnant women [25 Hb SS (40 %), 29 Hb SC (47 %) and 8 Hb Sβ (13 %)] were included. Overall, SCD was associated with maternal complications (77 %), preterm birth (30 %), cesarean section (80 %) and a need of blood transfusion…
View article: <i>BMP6</i> and <i>VDR</i> gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort
<i>BMP6</i> and <i>VDR</i> gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort Open
Summary The occurrence and severity of osteonecrosis in sickle cell anaemia (SCA) vary due to risk factors, including genetic modifiers. Bone morphogenetic proteins (BMPs), particularly BMP6, and the vitamin D receptor (VDR) play key roles…