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Purpose: To investigate the presence of the variants of lysyl oxygenase (LOX) and superoxide dismutase 1 (SOD1) genes in Brazilian patients with advanced keratoconus. Methods: Donor genomic DNA extracted from blood samples was screened for 5'UTR, exonic LOX, and SOD1 variants in a subset of 26 patients presenting with advanced keratoconus (KISA > 1000% and I--S > 2.0) by Sanger sequencing. The impact of non-synonymous amino acid changes was evaluated by SIFT, PMUT, and PolyPhen algorithms. The Mutation Taster tool was used to evaluate the potential impact of formation of new donor and acceptor splice sites in the promoter region of affected volunteers carrying sequence variants. A 7-base SOD1 deletion (IVS2 + 50del7bp) previously associated with keratoconus was screened in 140 patients presenting classical keratoconus by gel fragment analysis, and positive samples were sequenced for confirmation. Results: We found an unreported missense variant in LOX exon 6 in one heterozygous patient, leading to substitution of proline with threonine at residue 392 (p. Thr392Pro) of LOX protein sequence. This mutation was predicted to be potentially damaging to LOX protein. Another LOX variant, Arg158Gln, was also detected in another patient but predicted to be non-pathogenic. Two additional new polymorphisms in LOX 5'UTR region (-116C > T and -58C > T) were found in two patients presenting with advanced keratoconus and were predicted to modulate or create donor/acceptor splice sites in LOX transcripts. Additionally, SOD1 deletion was detected in one patient presenting with severe keratoconus, not in control samples. Conclusion: We described three novel LOX polymorphisms identified for the first time in Brazilian patients with advanced keratoconus, as well as a previously described SOD1 deletion strongly associated with keratoconus. A possible role of these variants in modulating transcript levels in the cornea of affected individual requires further investigation. [ABSTRACT FROM AUTHOR]

Purpose: To screen visual system homeobox 1 (VSX1) gene in Brazilian subjects affected with keratoconus (KCN). Methods: Seventy-three patients with KCN and 106 healthy controls were enrolled in this study. Patients were diagnosed with KCN based on eye examination and corneal topographic features according to Rabinowitz's criteria (K > 47.2, I-S > 1.4 and KISA > 100%). DNA from blood samples was extracted from donors, and the exons and exon-intron boundaries of VSX1 were sequenced. The potential impact of the identified amino acid changes was assessed with Poly-Phen2, SIFT, and PMUT analysis tools. Genotyping was confirmed by RLFP technique, which was also applied to genotype non-affected individuals. Results: We found three non-synonymous substitutions (L68H, R131S, and D105E) in VSX1 exon 1, with L68H mutation as a novel variation in this gene. In silico analysis indicated that all variations found were predicted to be probably damaging to VSX1 structure and function. Examination of R131S and L68H variations segregating in one family suggested a strong effect of these variations in increasing disease severity in the proband, which presented bilateral KCN leading to corneal grafting before the age of sixteen. We found a novel synonymous substitution (P79P) and two previously described exonic polymorphisms, with unknown roles in VSX1 pathogenesis. Conclusion:VSX1 polymorphisms found in the Brazilian population support a genetic component in KCN pathogenesis. L68H is a novel mutation, and the phenotypic data suggest that this mutation might enhance disease severity when combined with other polymorphisms. However, further investigations are needed. [ABSTRACT FROM AUTHOR]

Copyright of Revista Ciência & Saúde Coletiva is the property of Associacao Brasileira de Pos-Graduacao em Saude Coletiva and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

This article aims to conduct an analysis of the correlation between the management and use of water resources with the expansion of agribusiness and its reflections in environmental and human contamination, pointing toward challenges for SUS in the area of monitoring pesticides in water for human consumption. It is qualitative study with an adopted methodological framework of the case study, applied in an area of agribusiness expansion in the semi-arid region of the state of Ceará. The results demonstrate that there exists an unequal relationship in the management and use of water, in which agribusiness in Ceará is prioritized for access to water at the expense of the great majority of the rural population. As a result, pesticide contamination of surface and ground water brings challenges to surveillance of the control of pesticides in water for human consumption. In this sense, we present alternatives to develop health services with more effective actions in surveillance of health in general, and of Vigiagua in particular, such as: overcoming the fragmentation of vision and intervention regarding health problems; human exposure to multiple pesticides; the lack of laboratories and trained professionals; and enlarging the dissemination of information to the users of water. [ABSTRACT FROM AUTHOR]

Copyright of Revista Ciência & Saúde Coletiva is the property of Associacao Brasileira de Pos-Graduacao em Saude Coletiva and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose: To investigate the presence of the variants of lysyl oxygenase ( LOX ) and superoxide dismutase 1 ( SOD1 ) genes in Brazilian patients with advanced keratoconus., Methods: Donor genomic DNA extracted from blood samples was screened for 5'UTR, exonic LOX, and SOD1 variants in a subset of 26 patients presenting with advanced keratoconus (KISA > 1000% and I-S > 2.0) by Sanger sequencing. The impact of non-synonymous amino acid changes was evaluated by SIFT, PMUT, and PolyPhen algorithms. The Mutation Taster tool was used to evaluate the potential impact of formation of new donor and acceptor splice sites in the promoter region of affected volunteers carrying sequence variants. A 7-base SOD1 deletion (IVS2 + 50del7bp) previously associated with keratoconus was screened in 140 patients presenting classical keratoconus by gel fragment analysis, and positive samples were sequenced for confirmation., Results: We found an unreported missense variant in LOX exon 6 in one heterozygous patient, leading to substitution of proline with threonine at residue 392 (p. Thr392Pro) of LOX protein sequence. This mutation was predicted to be potentially damaging to LOX protein. Another LOX variant, Arg158Gln, was also detected in another patient but predicted to be non-pathogenic. Two additional new polymorphisms in LOX 5'UTR region (-116C > T and -58C > T) were found in two patients presenting with advanced keratoconus and were predicted to modulate or create donor/acceptor splice sites in LOX transcripts. Additionally, SOD1 deletion was detected in one patient presenting with severe keratoconus, not in control samples., Conclusion: We described three novel LOX polymorphisms identified for the first time in Brazilian patients with advanced keratoconus, as well as a previously described SOD1 deletion strongly associated with keratoconus. A possible role of these variants in modulating transcript levels in the cornea of affected individual requires further investigation., Competing Interests: There are no conflicts of interest., (Copyright © 2020 Gadelha et al.)

Purpose: To screen visual system homeobox 1 ( VSX1 ) gene in Brazilian subjects affected with keratoconus (KCN)., Methods: Seventy-three patients with KCN and 106 healthy controls were enrolled in this study. Patients were diagnosed with KCN based on eye examination and corneal topographic features according to Rabinowitz's criteria (K > 47.2, I-S > 1.4 and KISA > 100%). DNA from blood samples was extracted from donors, and the exons and exon-intron boundaries of VSX1 were sequenced. The potential impact of the identified amino acid changes was assessed with Poly-Phen2, SIFT, and PMUT analysis tools. Genotyping was confirmed by RLFP technique, which was also applied to genotype non-affected individuals., Results: We found three non-synonymous substitutions (L68H, R131S, and D105E) in VSX1 exon 1, with L68H mutation as a novel variation in this gene. In silico analysis indicated that all variations found were predicted to be probably damaging to VSX1 structure and function. Examination of R131S and L68H variations segregating in one family suggested a strong effect of these variations in increasing disease severity in the proband, which presented bilateral KCN leading to corneal grafting before the age of sixteen. We found a novel synonymous substitution (P79P) and two previously described exonic polymorphisms, with unknown roles in VSX1 pathogenesis., Conclusion: VSX1 polymorphisms found in the Brazilian population support a genetic component in KCN pathogenesis. L68H is a novel mutation, and the phenotypic data suggest that this mutation might enhance disease severity when combined with other polymorphisms. However, further investigations are needed., Competing Interests: There are no conflicts of interest.

Purpose: To evaluate the corneal cross-linking (CXL) effect on symptomatic bullous keratopathy, and its impact on the visual acuity, corneal thickness and pain symptomatology., Methods: Twelve patients with symptomatic bullous keratophaty were included. A clinical examination with a specific questionnaire (pain scale-visual numeric analog scale), visual acuity, and corneal thickness measures was performed before corneal cross-linking and 7, 30 and 60 days after the procedure. In all patients, the treatment with the UVA-crosslinking was done after corneal abrasion on the slit-lamp and instillation of 0.1% riboflavin in saline for every five minutes, lasting 30 minutes. Subsequently, the patient underwent the UVA light exposure, using riboflavin and topical anesthesia, every five minutes lasting 30 minutes. The patient received 0.3% ofloxacine drops, and artificial tears until complete reepithelization. The Friedman test was used to compare the means of frequencies of visual acuity, pain symptoms and corneal thickness. A 'p' value<0.05 was considered for rejecting the null hypothesis., Results: Twelve eyes from 12 patients with recurrent epithelium erosions were treated. The mean follow-up was two months. Significant pain reduction was observed (p<0.001). Corneal thickness and visual acuity measurements presented with no significant difference., Conclusion: The potential use of cross-linking in the treatment of bullous keratopathy pain was proved to be likely. A longer follow-up to confirm whether these results can be reproduced in the long term is necessary.

Purpose: To investigate the humoral immune response to dengue virus in patients with Möbius sequence and their mothers, assessing the relation between this infection during pregnancy and Möbius sequence., Methods: The medical records were reviewed, and a questionnaire was answered by each mother. IgG ELISA was performed in 35 patients and their mothers. A plaque reduction neutralization test was further done in the mothers who reported a viral infection during pregnancy and in their children for determining which dengue serotype virus had caused the infection., Results: Fever, headache and/or retrobulbar pain during pregnancy was referred by eighteen (51.4%) mothers. Three (8.6%) reported dengue during the first or second quarteers of pregnancy. When cross analyzing the mothers and their respective children serological results, 57.1% of them matched. Of the three mothers with clinical diagnosis of viral infection during pregnancy, one and its respective children had a positive plaque reduction neutralization test for dengue serotype three (DENV-3), this serotype reached Pernambuco in 2002, which excludes the possibility of a vertical transmission to the children., Conclusion: The serology of the cases that had clinical diagnosis of dengue during pregnancy proved to be incompatible with the hypothesis of the disease vertical transmission. Therefore, in the present serie, the dengue virus infection can not be considered as a factor involved in the genesis of Möbius sequence.

Objective: To analyze the temporal tendency of lethality due to acute myocardial infarction (AMI) and if the change in behavior directly interfered in such lethality., Methods: 1055 non-selected patients, who were hospitalized in coronary unit from 1994 to 2003, were assessed. Clinical and therapeutic profile-related variables were analyzed. The statistic analysis used the exponential damping of temporal series and other techniques, such as the logistic linear regression., Results: The average lethality was 10.8%, being 12% in 1994 and 7% in 2002 (p=0.000), a relative reduction of 58%. There was no significant variation in the risk profile of the patients. There were 67.4% of men and 32.4% of women, with an average age of 60.93 and 64.84 years old, respectively. It was observed a significant increase in the percentage of cardiac catheterization (from 14% to 51%), in the angioplasty carried out 24 hours after the infarction (from 2% to 33%), in the surgery for myocardial revascularization (from 4% to 7%) and in the primary angioplasty (from 4% to 11%) with p=0.000, p=0.021, p=0.000 and p=0.000, respectively, for linear tendency. In the first 24 hours there was an increase of the use of aspirin and beta-blockers, from 78% to 100% and, from 33% to 76% (p=0.003 and p=0.004, respectively) along the years. After the analysis, the myocardial reperfusion therapy, the use of aspirin and beta-blocker in the first 24 hours of the AMI (p=0.010, p=0.024 and p=0.035, respectively) kept on being lethality determiners., Conclusion: There was a decrease in lethality and the change of behavior in the treatment of AMI along the years was responsible for the reduction of lethality in that temporal series.