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1.
Transfus Med Hemother ; 46(4): 276-281, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31700510

ABSTRACT

Twin hematopoietic chimera in humans is a phenomenon that was discovered accidentally and the prevalence of which remains unclear. The resolution of chimera cases requires studying family medical records, data analysis, and investigations of hematopoietic cells and cells from other tissues. The interactions among ABO, Lewis, and secretor histo-blood group systems are explored to resolve cases of hematopoietic chimera. Here we report a rare case of hematopoietic chimera where twins present a mixed field reaction in the ABO, Rh, and Kidd red blood cell phenotyping. Using red blood cells separated from the mixed field as well as molecular approaches and investigations of family members, we identify inconsistent genotypes with the Mendelian inheritance pattern when comparing the peripheral blood with the buccal epithelium of the male twin and his twin sister. Analysis of the ABO, Lewis, and secretor phenotypes, and genomic DNA from buccal epithelium showed the genotypes ABO*A1.01/ABO*B.01 and FUT2*01N.02/ FUT2*01N.02 in the male twin and the genotypes ABO*O.01.01/ABO*O.01.02 and FUT2*01/FUT2*01 in the female twin. The results of the HLA-DRB1 genotyping showed inconsistency between the male and his twin sister. We conclude that the serological analyses combined with molecular approaches used in this study are good tools to resolve cases of hematopoietic chimera.

2.
Acta Trop ; 178: 276-280, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29221851

ABSTRACT

CC chemokine receptor type 5 (CCR5) is a chemokine receptor that influences the immune response to infectious and parasitic diseases. This study aimed to determine whether the CCR5Δ32 and CCR5 59029 A/G polymorphisms are associated with the development of ocular toxoplasmosis in humans. Patients with positive serology for Toxoplasma gondii were analyzed and grouped as 'with ocular toxoplasmosis' (G1: n=160) or 'without ocular toxoplasmosis' (G2: n=160). A control group (G3) consisted of 160 individuals with negative serology. The characterization of the CCR5Δ32 and CCR5 59029 A/G polymorphisms was by PCR and by PCR-RFLP, respectively. The difference between the groups with respect to the mean age (G1: mean age: 47.3, SD±19.3, median: 46 [range: 18-95]; G2: mean age: 61.3, SD±13.7, median: 61 [range: 21-87]; G3: mean age: 38.8, SD±17.9, median: 34 [range: 18-80]) was statistically significant (G1 vs.G2: p-value <0.0001; t=7.21; DF=318; G1 vs.G3: p-value <0.0001; t=4.32; DF=318; G2 vs. G3: p-value <0.0001; t=9.62; DF=318). The Nagelkerke r2 value was 0.040. There were statistically significant differences for the CCR5/CCR5 (p-value=0.008; OR=0.261), AA (p-value=0.007; OR=2.974) and AG genotypes (p-value=0.018; OR=2.447) between G1 and G2. Individuals with the CCR5/CCR5 genotype and simultaneously the CCR5-59029 AA or AG genotypes have a greater risk of developing ocular toxoplasmosis (4% greater), which may be associated with a strong and persistent inflammatory response in ocular tissue.


Subject(s)
Genetic Predisposition to Disease , Polymorphism, Genetic , Receptors, CCR5/genetics , Toxoplasmosis, Ocular/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Aging , Case-Control Studies , Female , Genotype , Humans , Male , Middle Aged , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Risk Factors , Toxoplasma , Toxoplasmosis, Ocular/parasitology , Young Adult
3.
Infect Genet Evol ; 45: 132-137, 2016 11.
Article in English | MEDLINE | ID: mdl-27539514

ABSTRACT

Chagas disease is an infection caused by the protozoan Trypanosoma cruzi. The clinical manifestations result from the chronic forms of the disease: indeterminate, cardiac, digestive or mixed. The pathogenesis of this disease is related to the genetic variability of both the parasite and the host with polymorphisms of genes involved in immune response possibly being involved in the variable clinical course. Cytokines play a key role in regulating immune response, in particular chemokines exert a crucial role in the control of leukocyte migration during the host's response to infectious processes. Furthermore, inflammatory cytokines and chemokines have been implicated in the generation of inflammatory infiltrates and tissue damage. The involvement of the CC Chemokine Receptor 5 (CCR5) in leukocyte migration to sites of inflammation has been elucidated and this receptor has been investigated in Chagas disease. Here we review the role of CCR5 in T. cruzi infection as well as its importance in the pathogenesis of the Chagas disease.


Subject(s)
Chagas Disease/genetics , Genetic Predisposition to Disease/genetics , Polymorphism, Genetic/genetics , Receptors, CCR5/genetics , Humans
4.
Arch Med Sci ; 7(2): 326-31, 2011 Apr.
Article in English | MEDLINE | ID: mdl-22291775

ABSTRACT

INTRODUCTION: Functional alterations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) increase the viscoelasticity of pulmonary secretions of cystic fibrosis (CF) patients and require the use of therapeutic aerosols. The biochemical properties of exocrine secretions are influenced by the expression of the FUT2 gene which determine the secretor and non-secretor phenotypes of the ABH glycoconjugates. The aim of this study was to determine the influence of secretor and non-secretor phenotypes by means of photoacoustic analysis, both the typical interaction time (t(0)) and the solubilization interval (Δt) of the sputum of secretor and non-secretor CF patients nebulized by hypertonic saline solutions at different concentrations. MATERIAL AND METHODS: Sputum samples were obtained by spontaneous expectoration from 6 secretor and 4 non-secretor patients with CF. Each sample was nebulized with 3%, 6%, and 7% hypertonic saline solutions in a photoacoustic cell. The values of t(0) and Δt were determined using the Origin 7.5(®) computer program (Microcal Software Inc.). The t-test was employed using the GraphPad Instat 3.0(®) computer program to calculate the mean and standard deviation for each parameter. RESULTS: For all hypertonic saline solutions tested, the mean values of t(0) and Δt do not show statistically significant differences between secretor and non-secretor patients. CONCLUSIONS: The secretor and non-secretor phenotypes do not influence the in vitro solubilization of the sputum nebulized by hypertonic saline solutions at different concentrations when analysed by photoacoustic technique.

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