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1.
Appl Opt ; 62(8): C21-C29, 2023 Mar 10.
Article in English | MEDLINE | ID: mdl-37133053

ABSTRACT

Lithium-boron-aluminum (LBA) glasses doped with N d 3+ and fluorides were produced. From the absorption spectra, their Judd-Ofelt intensity parameters, Ω 2,4,6, and spectroscopic quality factors were calculated. Exploiting their near infrared temperature dependent luminescence, we investigated their potential for optical thermometry based on the luminescence intensity ratio (LIR) methodology. Three LIR schemes were proposed, and relative sensitivity values up to 3.57±0.06% K -1 were obtained. From the temperature dependent luminescence, we alternatively calculated their corresponding spectroscopic quality factors. The results indicated that N d 3+-doped LBA glasses are promising systems for optical thermometry and as gain mediums for solid-state lasers.

2.
Hum Mol Genet ; 31(22): 3789-3806, 2022 11 10.
Article in English | MEDLINE | ID: mdl-35708486

ABSTRACT

Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10-8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10-22 and P = 8.1 × 10-12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10-8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10-8) and ARHGAP33 (P = 1.3 × 10-8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10-8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.


Subject(s)
COVID-19 , Genome-Wide Association Study , Female , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide/genetics , COVID-19/genetics , Sex Characteristics , Genetic Loci , Genetic Predisposition to Disease
3.
Ann Hematol ; 99(5): 947-953, 2020 May.
Article in English | MEDLINE | ID: mdl-32140892

ABSTRACT

Sickle cell anemia (SCA) pathophysiology is characterized by the activation of sickle red blood cells, reticulocytes, leukocytes, platelets, and endothelial cells, and with the expression of several inflammatory molecules. Therefore, it is conceivable that variations in levels of proinflammatory cytokines may act as a signaling of differential clinical course in SCA. Here, we evaluated the clinical impact of proinflammatory cytokines interleukin 1-ß (IL-1ß), interleukin 6 (IL-6), and interleukin 8 (IL-8) in 79 patients with SCA, followed in a single reference center from northeastern Brazil. The main clinical/laboratory data were obtained from patient interview and medical records. The proinflammatory markers IL-1ß, IL-6, and IL-8 were evaluated by using commercially available enzyme-linked immunosorbent assay kits. According to levels of the proinflammatory markers, we observed that patients who had a higher frequency of VOC per year (P = 0.0236), acute chest syndrome (P = 0.01), leg ulcers (P = 0.0001), osteonecrosis (P = 0.0006), stroke (P = 0.0486), and priapism (P = 0.0347) had higher IL-6 levels compared with patients without these clinical complications. Furthermore, increased levels of IL-8 were found in patients who presented leg ulcers (P = 0.0184). No significant difference was found for IL-1ß levels (P > 0.05). In summary, the present study emphasizes the role of inflammation in SCA pathophysiology, reveals an association of IL-8 levels and leg ulcer occurrence, and indicates that IL-6 levels can be used as a useful predictor for poor outcomes in SCA.


Subject(s)
Anemia, Sickle Cell/blood , Interleukin-6/blood , Interleukin-8/blood , Leg Ulcer/blood , Adult , Anemia, Sickle Cell/epidemiology , Brazil , Enzyme-Linked Immunosorbent Assay , Female , Follow-Up Studies , Humans , Interleukin-1beta/blood , Leg Ulcer/epidemiology , Male , Middle Aged
4.
Materials (Basel) ; 12(24)2019 Dec 11.
Article in English | MEDLINE | ID: mdl-31835752

ABSTRACT

Scanning magnetic microscopy is a tool that has been used to map magnetic fields with good spatial resolution and field sensitivity. This technology has great advantages over other instruments; for example, its operation does not require cryogenic technology, which reduces its operational cost and complexity. Here, we presented a spatial domain technique based on an equivalent layer approach for processing the data set produced by magnetic microscopy. This approach estimated a magnetic moment distribution over a fictitious layer composed by a set of dipoles located below the observation plane. For this purpose, we formulated a linear inverse problem for calculating the magnetic vector and its amplitude. Vector field maps are valuable tools for the magnetic interpretation of samples with a high spatial variability of magnetization. These maps could provide comprehensive information regarding the spatial distribution of magnetic carriers. In addition, this approach might be useful for characterizing isolated areas over samples or investigating the spatial magnetization distribution of bulk samples at the micro and millimeter scales. This technique could be useful for many applications that require samples that need to be mapped without a magnetic field at room temperature, including rock magnetism.

5.
Sci Rep ; 9(1): 10896, 2019 07 26.
Article in English | MEDLINE | ID: mdl-31350437

ABSTRACT

Genetic analysis of admixed populations raises special concerns with regard to study design and data processing, particularly to avoid population stratification biases. The point mutation responsible for sickle cell anaemia codes for a variant hemoglobin, sickle hemoglobin or HbS, whose presence drives the pathophysiology of disease. Here we propose to explore ancestry and population structure in a genome-wide study with particular emphasis on chromosome 11 in two SCA admixed cohorts obtained from urban populations of Brazil (Pernambuco and São Paulo) and the United States (Pennsylvania). Ancestry inference showed different proportions of European, African and American backgrounds in the composition of our samples. Brazilians were more admixed, had a lower African background (43% vs. 78% on the genomic level and 44% vs. 76% on chromosome 11) and presented a signature of positive selection and Iberian introgression in the HbS region, driving a high differentiation of this locus between the two cohorts. The genetic structures of the SCA cohorts from Brazil and US differ considerably on the genome-wide, chromosome 11 and HbS mutation locus levels.


Subject(s)
Anemia, Sickle Cell/genetics , Chromosomes, Human, Pair 11/genetics , Genetics, Population/methods , Genotype , Hemoglobin, Sickle/genetics , Population Groups , Racial Groups/genetics , Brazil , Cohort Studies , Gene Frequency , Genome , Genome-Wide Association Study , Haplotypes , Humans , United States
6.
Electron. j. biotechnol ; 38: 40-48, Mar. 2019. tab, graf, ilus
Article in English | LILACS | ID: biblio-1051342

ABSTRACT

BACKGROUND: The use of agro-industrial wastes to produce high value-added biomolecules such as biosurfactants is a promising approach for lowering the total costs of production. This study aimed to produce biosurfactants using Rhizopus arrhizus UCP 1607, with crude glycerol (CG) and corn steep liquor (CSL) as substrates. In addition, the biomolecule was characterized, and its efficiency in removing petroderivatives from marine soil was investigated. RESULTS: A 22 factorial design was applied, and the best condition for producing the biosurfactant was determined in assay 4 (3% CG and 5% CSL). The biosurfactant reduced the surface tension of water from 72 to 28.8 mN/m and produced a yield of 1.74 g/L. The preliminary biochemical characterization showed that the biosurfactant consisted of proteins (38.0%), carbohydrates (35.4%), and lipids (5.5%). The compounds presented an anionic character, nontoxicity, and great stability for all conditions tested. The biomolecule displayed great ability in dispersing hydrophobic substrates in water, thereby resulting in 53.4 cm2 ODA. The best efficiency of the biosurfactant in removing the pollutant diesel oil from marine soil was 79.4%. CONCLUSIONS: This study demonstrated the ability of R. arrhizus UCP1607 to produce a low-cost biosurfactant characterized as a glycoprotein and its potential use in the bioremediation of the hydrophobic diesel oil pollutant in marine soil


Subject(s)
Rhizopus/metabolism , Surface-Active Agents/metabolism , Gasoline , Soil , Surface-Active Agents/toxicity , Surface Tension , Biodegradation, Environmental , Marine Environment , Zea mays , Agribusiness , Hydrophobic and Hydrophilic Interactions , Glycerol , Industrial Waste , Micelles , Mucorales/metabolism
7.
Biomech Model Mechanobiol ; 18(2): 491-502, 2019 Apr.
Article in English | MEDLINE | ID: mdl-30488355

ABSTRACT

We study numerically the influence of an iris-fixed phakic intraocular lens (PIOL) on the transport of nutrients by the aqueous humor across a realistic model of the human eye. The Boussinesq equations are solved to calculate the velocity field both in the anterior and posterior chambers. The transport of the nutrient is modeled as that of a passive scalar convected by that velocity field and diffused by the concentration gradient. The nutrient is assumed to be adsorbed at the non-vascularized tissues, i.e., the crystalline lens and cornea endothelium. The adsorption rates at the crystalline and cornea endothelium are supposed to be proportional to the nutrient concentration there. The comparison between the results obtained with and without the PIOL allows us to quantify the influence of this device on the nutrient supply from the aqueous humor. The amount of nutrient adsorbed onto the crystalline is hardly affected by the presence of the PIOL in the anterior chamber, even though there is an iridotomy in this case. When the PIOL is implanted, the flux adsorbed onto the cornea endothelium increases up to around 32% for the highest value of the adsorption coefficient, and hardly varies for the other values of this parameter. This counterintuitive effect is explained by the efficient role played by the iridotomy in evacuating the nutrient from the posterior to the anterior chamber. Based on these results, one can estimate the variation of glucose available in the cornea endothelium after implanting the PIOL, and discuss potential effects on the cell metabolism. These simulations can be regarded as a first attempt to shed light on the mechanisms responsible for the supply of oxygen and glucose to eye avascular structures like the cornea endothelium and crystalline.


Subject(s)
Aqueous Humor/physiology , Iris/physiology , Phakic Intraocular Lenses , Computer Simulation , Cornea/physiology , Humans , Pressure
8.
Biomech Model Mechanobiol ; 17(2): 465-477, 2018 Apr.
Article in English | MEDLINE | ID: mdl-29105007

ABSTRACT

A method is proposed to improve the quality of the three-dimensional airway geometric models using a commercial software, checking the number of elements, meshing time, and aspect ratio and skewness parameters. The use of real and virtual topologies combined with patch-conforming and patch-independent meshing algorithms results in four different models being the best solution the combination of virtual topology and patch-independent algorithm, due to an excellent aspect ratio and skewness of the elements, and minimum meshing time. The result is a reduction in the computational time required for both meshing and simulation due to a smaller number of cells. The use of virtual topologies combined with patch-independent meshing algorithms could be extended in bioengineering because the geometries handling is similar to this case. The method is applied to a healthy person using their computed tomography images. The resulting numerical models are able to simulate correctly a forced spirometry.


Subject(s)
Computer Simulation , Lung/anatomy & histology , User-Computer Interface , Humans , Lung/diagnostic imaging , Pressure , Rheology , Spirometry , Tomography, X-Ray Computed
9.
Biomech Model Mechanobiol ; 16(4): 1447-1458, 2017 08.
Article in English | MEDLINE | ID: mdl-28343259

ABSTRACT

In this paper, we present a numerical study of the pulsatile transitional flow crossing a severe real stenosis located right in front of the bifurcation between the right subclavian and right common carotid arteries. The simulation allows one to determine relevant features of this subject-specific flow, such as the pressure waves in the right subclavian and right common carotid arteries. We explain the subclavian steal syndrome suffered by the patient in terms of the drastic pressure drop in the right subclavian artery. This pressure drop is caused by both the diverging part of the analyzed stenosis and the reverse flow in the bifurcation induced by another stenosis in the right internal carotid artery.


Subject(s)
Carotid Artery, Common/pathology , Constriction, Pathologic/pathology , Models, Biological , Subclavian Artery/pathology , Arterial Pressure , Blood Flow Velocity , Humans , Subclavian Steal Syndrome/physiopathology
10.
Int J Mol Sci ; 17(10)2016 Sep 23.
Article in English | MEDLINE | ID: mdl-27669227

ABSTRACT

Almost all oleaginous microorganisms are available for biodiesel production, and for the mechanism of oil accumulation, which is what makes a microbial approach economically competitive. This study investigated the potential that the yeast Candida lipolytica UCP0988, in an anamorphous state, has to produce simultaneously a bioemulsifier and to accumulate lipids using inexpensive and alternative substrates. Cultivation was carried out using waste soybean oil and corn steep liquor in accordance with 2² experimental designs with 1% inoculums (107 cells/mL). The bioemulsifier was produced in the cell-free metabolic liquid in the late exponential phase (96 h), at Assay 4 (corn steep liquor 5% and waste soybean oil 8%), with 6.704 UEA, IE24 of 96.66%, and showed an anionic profile. The emulsion formed consisted of compact small and stable droplets (size 0.2-5 µm), stable at all temperatures, at pH 2 and 4, and 2% salinity, and showed an ability to remove 93.74% of diesel oil from sand. The displacement oil (ODA) showed 45.34 cm² of dispersion (central point of the factorial design). The biomass obtained from Assay 4 was able to accumulate lipids of 0.425 g/g biomass (corresponding to 42.5%), which consisted of Palmitic acid (28.4%), Stearic acid (7.7%), Oleic acid (42.8%), Linoleic acid (19.0%), and γ-Linolenic acid (2.1%). The results showed the ability of C. lipopytica to produce both bioemulsifier and biodiesel using the metabolic conversion of waste soybean oil and corn steep liquor, which are economic renewable sources.


Subject(s)
Biofuels , Candida/metabolism , Emulsifying Agents/metabolism , Oils, Volatile/metabolism , Soybean Oil/metabolism , Biomass , Candida/growth & development , Hydrogen-Ion Concentration , Industrial Waste , Oils, Volatile/chemistry , Oleic Acid/metabolism , Palmitic Acid/metabolism , Soybean Oil/chemistry , Stearic Acids/metabolism , Substrate Specificity , Temperature , Zea mays/chemistry , Zea mays/metabolism
11.
Br J Haematol ; 173(3): 456-60, 2016 05.
Article in English | MEDLINE | ID: mdl-26888013

ABSTRACT

The presence of high levels of fetal haemoglobin (HbF) provides well-validated clinical benefits to patients with sickle cell anaemia (SCA). Nevertheless it has been difficult to show clear direct effects of the known genetic HbF modifiers, such as the enhancer polymorphisms for haematopoietic transcription factors BCL11A and MYB, on SCA severity. Investigating SCA patients from Brazil, with a high degree of European genetic admixture, we have detected strong effects of these variants on HbF levels. Critically, we have shown, for the first time, that the presence of such HbF-promoting variants leads to a reduced rate of SCA complications, especially stroke.


Subject(s)
Anemia, Sickle Cell/complications , Carrier Proteins/genetics , Enhancer Elements, Genetic , Fetal Hemoglobin/genetics , Nuclear Proteins/genetics , RNA-Binding Proteins/genetics , Adolescent , Adult , Aged , Alleles , Brazil , Child , Female , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide , Quantitative Trait Loci , Repressor Proteins , Young Adult
12.
Rev Sci Instrum ; 86(5): 053702, 2015 May.
Article in English | MEDLINE | ID: mdl-26026527

ABSTRACT

Optical tweezers have been used to trap, manipulate, and measure individual cell properties. In this work, we show that the association of a computer controlled optical tweezers system with image processing techniques allows rapid and reproducible evaluation of cell deformability. In particular, the deformability of red blood cells (RBCs) plays a key role in the transport of oxygen through the blood microcirculation. The automatic measurement processes consisted of three steps: acquisition, segmentation of images, and measurement of the elasticity of the cells. An optical tweezers system was setup on an upright microscope equipped with a CCD camera and a motorized XYZ stage, computer controlled by a Labview platform. On the optical tweezers setup, the deformation of the captured RBC was obtained by moving the motorized stage. The automatic real-time homemade system was evaluated by measuring RBCs elasticity from normal donors and patients with sickle cell anemia. Approximately 150 erythrocytes were examined, and the elasticity values obtained by using the developed system were compared to the values measured by two experts. With the automatic system, there was a significant time reduction (60×) of the erythrocytes elasticity evaluation. Automated system can help to expand the applications of optical tweezers in hematology and hemotherapy.


Subject(s)
Elasticity , Erythrocytes/physiology , Optical Tweezers , Pattern Recognition, Automated/methods , Benzoxazines/chemistry , Perchlorates/chemistry , Spectrum Analysis , Vibration
13.
Nature ; 520(7549): 679-82, 2015 Apr 30.
Article in English | MEDLINE | ID: mdl-25707794

ABSTRACT

Plants and plant pathogens are subject to continuous co-evolutionary pressure for dominance, and the outcomes of these interactions can substantially impact agriculture and food security. In virus-plant interactions, one of the major mechanisms for plant antiviral immunity relies on RNA silencing, which is often suppressed by co-evolving virus suppressors, thus enhancing viral pathogenicity in susceptible hosts. In addition, plants use the nucleotide-binding and leucine-rich repeat (NB-LRR) domain-containing resistance proteins, which recognize viral effectors to activate effector-triggered immunity in a defence mechanism similar to that employed in non-viral infections. Unlike most eukaryotic organisms, plants are not known to activate mechanisms of host global translation suppression to fight viruses. Here we demonstrate in Arabidopsis that the constitutive activation of NIK1, a leucine-rich repeat receptor-like kinase (LRR-RLK) identified as a virulence target of the begomovirus nuclear shuttle protein (NSP), leads to global translation suppression and translocation of the downstream component RPL10 to the nucleus, where it interacts with a newly identified MYB-like protein, L10-INTERACTING MYB DOMAIN-CONTAINING PROTEIN (LIMYB), to downregulate translational machinery genes fully. LIMYB overexpression represses ribosomal protein genes at the transcriptional level, resulting in protein synthesis inhibition, decreased viral messenger RNA association with polysome fractions and enhanced tolerance to begomovirus. By contrast, the loss of LIMYB function releases the repression of translation-related genes and increases susceptibility to virus infection. Therefore, LIMYB links immune receptor LRR-RLK activation to global translation suppression as an antiviral immunity strategy in plants.


Subject(s)
Arabidopsis Proteins/metabolism , Arabidopsis/immunology , Arabidopsis/virology , Begomovirus/immunology , Immunity, Innate , Plant Immunity , Protein Biosynthesis/immunology , Protein Serine-Threonine Kinases/metabolism , Active Transport, Cell Nucleus , Cell Nucleus/metabolism , Down-Regulation , Gene Expression Regulation, Plant , Immune Tolerance , Protein Binding , Protein Biosynthesis/genetics , Ribosomal Protein L10 , Ribosomal Proteins/metabolism , Transcription Factors/metabolism
14.
Int J Mol Sci ; 15(9): 15377-95, 2014 Sep 01.
Article in English | MEDLINE | ID: mdl-25257520

ABSTRACT

A Mucoralean fungus was isolated from Caatinga soil of Pernambuco, Northeast of Brazil, and was identified as Cunninghamella echinulata by morphological, physiological, and biochemical tests. This strain was evaluated for biosurfactant/bioemulsifier production using soybean oil waste (SOW) and corn steep liquor (CSL) as substrates, added to basic saline solution, by measuring surface tension and emulsifier index and activity. The best results showed the surface water tension was reduced from 72 to 36 mN/m, and an emulsification index (E24) of 80% was obtained using engine oil and burnt engine oil, respectively. A new molecule of biosurfactant showed an anionic charge and a polymeric chemical composition consisting of lipids (40.0% w/w), carbohydrates (35.2% w/w) and protein (20.3% w/w). In addition, the biosurfactant solution (1%) demonstrated its ability for an oil displacement area (ODA) of 37.36 cm², which is quite similar to that for Triton X-100 (38.46 cm²). The stability of the reduction in the surface water tension as well as of the emulsifier index proved to be stable over a wide range of temperatures, in pH, and in salt concentration (4%-6% w/v). The biosurfactant showed an ability to reduce and increase the viscosity of hydrophobic substrates and their molecules, suggesting that it is a suitable candidate for mediated enhanced oil recovery. At the same time, these studies indicate that renewable, relatively inexpensive and easily available resources can be used for important biotechnological processes.


Subject(s)
Cunninghamella/chemistry , Emulsifying Agents/isolation & purification , Surface-Active Agents/isolation & purification , Biodegradation, Environmental , Brazil , Carbohydrates/analysis , Carbon/metabolism , Cunninghamella/growth & development , Cunninghamella/isolation & purification , Cunninghamella/metabolism , Drug Stability , Emulsifying Agents/chemistry , Fuel Oils , Fungal Proteins/analysis , Hydrogen-Ion Concentration , Hydrophobic and Hydrophilic Interactions , Industrial Waste , Lipids/analysis , Micelles , Nitrogen/metabolism , Salinity , Soil Microbiology , Glycine max , Surface Tension/drug effects , Surface-Active Agents/chemistry , Temperature , Viscosity , Water , Zea mays
15.
Hemoglobin ; 37(4): 315-24, 2013.
Article in English | MEDLINE | ID: mdl-23725037

ABSTRACT

The aim of this study was to investigate the association between three polymorphisms involved in the oxidative stress pathway and fetal hemoglobin (Hb F) levels in patients with sickle cell anemia in a Brazilian population. One hundred and seven patients with sickle cell anemia were recruited for genomic DNA extraction. The levels of Hb F, sex and age were evaluated. Three polymorphisms, rs4673:T>C and rs9932581:G>A in the CYBA gene and rs2071746:A>T in the HMOX1 gene, were identified through direct sequencing. Hb F levels were not associated with sex, age, or the polymorphisms rs4673:T>C and rs9932581:G>A. However, the TT genotype of the rs2071746:A>T polymorphism was associated with increased levels of Hb F (p value = 0.0131). We observed an association between the TT genotype of the rs2071746:A>T polymorphism, present in the HMOX1 gene, and increased levels of Hb F, indicating the presence of a new marker related to Hb F levels in sickle cell anemia patients.


Subject(s)
Anemia, Sickle Cell/genetics , Anemia, Sickle Cell/metabolism , Fetal Hemoglobin/metabolism , Heme Oxygenase-1/genetics , Polymorphism, Genetic , Adolescent , Adult , Alleles , Brazil , Child , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged , Young Adult
16.
Br J Haematol ; 158(6): 788-97, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22775554

ABSTRACT

Chronic vascular inflammation and endothelial activation may initiate vaso-occlusion in sickle cell disease (SCD). TNFSF14 (CD258; LIGHT), a recently-identified pro-thrombotic and pro-inflammatory tumour necrosis factor (TNF)-superfamily cytokine, has a potent activating effect on endothelial cells. We evaluated whether TNFSF14 production is altered in SCD and whether platelets contribute to this production. TNFSF14 was measured in platelet-free plasma from healthy-control individuals (CON), steady-state sickle cell anaemia (SCA), SCA on hydroxycarbamide therapy (SCAHC) and haemoglobin SC (HbSC) patients. Mean plasma TNFSF14 was significantly increased in SCA, SCAHC and HbSC, compared to CON individuals. In SCA/SCAHC patients, plasma TNFSF14, showed no correlation with haematological variables, but was significantly correlated with serum lactate dehydrogenase and inflammatory markers (CD40LG , IL8 and ICAM1). Platelet-membrane TNFSF14 expression was significantly augmented on SCA platelets, and correlated with platelet activation; furthermore, measurement of platelet TNFSF14 release indicated that platelets may be a major source of circulating TNFSF14 in SCA. Interestingly, high plasma TNFSF14 was significantly associated with elevated tricuspid regurgitant velocity (≥2·5 m/s) in a population of SCA/SCAHC patients. The pro-inflammatory and atherogenic cytokine, TNFSF14, could contribute to endothelial activation and inflammation in SCA; future investigations may confirm whether this protein contributes to major clinical complications of the disease, such as pulmonary hypertension, and represents a potential therapeutic target.


Subject(s)
Anemia, Sickle Cell/blood , Blood Platelets/metabolism , Tumor Necrosis Factor Ligand Superfamily Member 14/blood , Adolescent , Adult , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/drug therapy , Anemia, Sickle Cell/genetics , Anemia, Sickle Cell/pathology , Biomarkers , Endothelium, Vascular/pathology , Female , Genotype , Hemoglobin C/genetics , Hemoglobin C Disease/blood , Hemoglobin C Disease/genetics , Humans , Hydroxyurea/therapeutic use , Inflammation Mediators/blood , Male , Middle Aged , Platelet Activation , Receptors, Tumor Necrosis Factor, Member 14/blood , Sickle Cell Trait/blood , Sickle Cell Trait/genetics , Thrombophilia/etiology , Thrombophilia/metabolism , Tumor Necrosis Factor Ligand Superfamily Member 14/genetics , Tumor Necrosis Factor Ligand Superfamily Member 14/physiology , Young Adult
18.
Arch Physiol Biochem ; 117(5): 265-9, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21801125

ABSTRACT

CONTEXT: Presence of endothelial nitric oxide synthase (eNOS) gene polymorphism has been associated with cardiovascular disease (CVD) whereas exercise training (EX) promotes beneficial effects on CVD which is related to increased nitric oxide levels (NO). OBJECTIVE: To evaluate if women with eNOS gene polymorphism at position-G894T would be less responsive to EX than those who did not carry T allele. METHODS: Women were trained 3 days/week, 40 minutes session during 6 months. Cardio-biochemical parameters and genetic analysis were performed in a double-blind fashion. RESULTS: Plasma NOx- levels were similar in both groups at baseline (GG genotype: 18.44±3.28 µM) and (GT+TT genotype: 17.19±2.43 µM) and after EX (GG: 29.20±4.33 and GT+TT: 27.38±3.12 µM). A decrease in blood pressure was also observed in both groups. DISCUSSION AND CONCLUSION: The presence of eNOS polymorphism does not affect the beneficial effects of EX in women.


Subject(s)
Cardiovascular Diseases/prevention & control , Exercise , Nitric Oxide Synthase Type III/genetics , Nitric Oxide/blood , Polymorphism, Single Nucleotide , Alleles , Blood Pressure , Brazil , Cardiovascular Diseases/enzymology , Cardiovascular Diseases/genetics , Case-Control Studies , Double-Blind Method , Female , Gene Frequency , Genotype , Humans , Middle Aged , Nitric Oxide/biosynthesis , Nitric Oxide Synthase Type III/blood
19.
Eur J Haematol ; 83(4): 378-82, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19527272

ABSTRACT

We describe here two new unstable beta-globin variants, Hb Caruaru and Hb Olinda, found in northeastern Brazil, both associated with chronic haemolytic anaemia. Haemoglobin Caruaru is caused by a single base substitution at codon 122 (TTC-->TCC), possibly originating from the germ line cells of the patient's grandmother. Haemoglobin Olinda is also a de novo mutation, caused by a 12 bp deletion leading to the removal of the 22nd to the 25th residues of the normal beta-globin chain.


Subject(s)
Anemia, Hemolytic/genetics , Hemoglobins, Abnormal/genetics , Brazil , Chronic Disease , Germ-Line Mutation , Humans , Point Mutation , Protein Stability , Sequence Deletion , beta-Globins/genetics
20.
Appl Opt ; 48(2): 393-6, 2009 Jan 10.
Article in English | MEDLINE | ID: mdl-19137052

ABSTRACT

We revisited the well known Khosrofian and Garetz inversion algorithm [Appl. Opt.22, 3406-3410 (1983)] that was developed to analyze data obtained by the application of the traveling knife-edge technique. We have analyzed the approximated fitting function that was used for adjusting their experimental data and have found that it is not optimized to work with a full range of the experimentally-measured data. We have numerically calculated a new set of coefficients, which makes the approximated function suitable for a full experimental range, considerably improving the accuracy of the measurement of a radius of a focused Gaussian laser beam.

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