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1.
J Pediatr Genet ; 11(4): 272-278, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36267866

ABSTRACT

This cross-sectional study aimed to observe number of marriages between relatives in São Francisco Valley municipalities and correlations between degrees of kinship and susceptibility to genetic diseases. Three hundred and nine (309) consanguineous couples were interviewed in five municipalities. The data were analyzed using SPSS (version 22), Chi-square testing, and the generalized estimating equation (GEE). In Pariconha-AL for first cousins, the results revealed significantly higher numbers of disabled children than for third cousins ( p < 0.05). Of these, the prevalence for physical disability was significant ( χ 2 = 19.203, d f = 4, p = 0.001). In the cities of Glória-BA ( χ 2 = 11.652, d f = 3, p = 0.020) and OlhoD'água do Casado-AL ( χ 2 = 8.123, d f = 4, p = 0.044), physical disabilities were also significantly higher in children from unions of first-degree cousins than for other degrees of kinship. Visual impairment was more significant in first-degree cousins in Glória-BA ( χ 2 = 14.206, d f = 3 p = 0.007); yet among third-degree cousins, visual impairment in the municipality of Santa Brígida-BA was more prevalent ( χ 2 = 6.416, d f = 2 p = 0.040). Inbreeding, as revealed in the evaluated cities, reinforces the hypothesis for developing genetic diseases.

2.
Microb Pathog ; 132: 254-260, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31075429

ABSTRACT

Early nutritional aggressions promote epigenetic adjustments that culminate in the loss of phenotype plasticity (with permanent long-term modifications). Maternal diet and inadequate neonatal nutrition can result in fetal programming that presents susceptibility to infections in adult life. Thus, it becomes essential to verify the impacts of neonatal malnutrition (even following nutritional replacement) on the immunological response to methicillin resistant Staphylococcus aureus (MRSA) infections. Male rats were divided into two distinct groups: Nourished and Malnourished. After isolation of mononuclear cells, four systems were established: negative control, positive control and two testing systems, (MSSA and MRSA). Tests were performed to analyze expression of TLR-9, NF-kB, IL-1ß, IL-18 and IL-33. For statistical analysis, we used the Student t and ANOVA tests p < 0.05. Even after nutritional replacement, malnutrition in the neonatal period compromised the animals' weight gains p < 0.05. There was a reduction in the expression of the immunological response in the positive control, however deregulation was observed in the gene expression of MRSA-infected macrophages, with a reduction in TLR-9 expression, and overexpression in NF-kB and cytokines p < 0.05. Puppies inflicted with protein-calorie malnutrition were compromised; (long-term) body growth and immune response. In the infectious scenario, immune collapse is reflected in inflammatory response exacerbation with a likely histolytic character. Immune disabling (resulting from gene expression deregulation) causes susceptibility to infections due to ineffective recognition, intense pro-inflammatory mediation, and cell death. It is suggested that neonatal malnutrition can program susceptibility to multiresistant bacterial infections, and generally favors a triggering of more intense confrontations with fatal outcomes.


Subject(s)
Cytokines/metabolism , Macrophages/metabolism , Macrophages/microbiology , Malnutrition/metabolism , Methicillin-Resistant Staphylococcus aureus/pathogenicity , NF-kappa B/metabolism , Staphylococcal Infections/immunology , Toll-Like Receptor 9/metabolism , Animals , Animals, Newborn , Body Weight , Dogs , Gene Expression Regulation , Interleukin-18/metabolism , Interleukin-1beta/metabolism , Interleukin-33/metabolism , Macrophages, Alveolar/microbiology , Male , Rats , Rats, Wistar , Staphylococcal Infections/microbiology
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