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Mucopolysaccharidosis type II or Hunter syndrome (MPS II) is a genetic disease that can course with intellectual impairment and central nervous system (CNS) alterations. To date, no report has documented electroencephalogram (EEG) measures associated with CNS alterations, detected by imaging studies, and the history of seizures in patients with MPS II. Therefore, we decided to search this association. We included 9 patients with MPS II and performed imaging studies of the brain to detect the presence of cortico-subcortical atrophy, enlarged subarachnoid space and supratentorial ventricular size. Additionally, we performed EEG studies in sleep and awake conditions and a complete clinical description. Five out of the nine patients presented history of seizures and all except one patient (88.9%) presented some CNS structural alteration in the imaging studies, being the most frequent the cortico-subcortical atrophy (77.8%). The EEG results showed low amplitude in all patients and low voltage in sleep condition in eight patients with interhemispheric asymmetry in six patients during awake and sleep conditions. Although the five patients with history of seizures did not present a distinctive EEG anomaly, four of them presented some structural alteration in the imaging studies. In conclusion, most patients presented structural alterations in the CNS; likewise, all of them presented EEG anomalies mainly during sleep conditions. However, a clear association between EEG, CNS and the history of seizures was not established.
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Encéfalo/patologia , Mucopolissacaridose II/patologia , Convulsões/patologia , Adolescente , Encéfalo/fisiopatologia , Criança , Pré-Escolar , Eletroencefalografia , Humanos , Imageamento por Ressonância Magnética , Masculino , Mucopolissacaridose II/complicações , Mucopolissacaridose II/fisiopatologia , Convulsões/etiologia , Convulsões/fisiopatologiaRESUMO
PURPOSE: Toll-like receptor 4 (TLR4) is a transmembrane receptor that mediates immune responses to exogenous and endogenous ligands. Previously, non-coding single nucleotide polymorphisms (SNPs) in the TLR4 gene were related to primary open angle glaucoma (POAG). This study was undertaken to investigate whether coding TLR4 Asp299Gly (rs4986790 A/G) and Thr399Ile (rs4986791 C/T) are associated with POAG in a Mexican population. METHODS: One hundred and eighty-seven unrelated Mexican patients with POAG (94 men and 95 women; mean age 66.49 ± 14.3 years) and 109 control subjects (40 men and 69 women; age, 63.28 ± 7.93 years) were included. SNPs Asp299Gly (rs4986790 A/G) and Thr399Ile (rs4986791 C/T) were genotyped by a Taqman® Allelic Discrimination Assayand. Allelic, genotypic, haplotypic, and model-based (dominant, recessive, and codominant) associations of the SNPs with POAG were analyzed using Chi-squared tests or Fisher exact tests and logistic regression. RESULTS: Strong linkage disequilibrium was observed among the SNPs (D' = 0.8692), which were located in one haplotype block. With respect to allelic diversity, the minor allele of both SNPs generates a significantly increased risk of POAG. The minor allele of Asp299Gly conferred the highest increased risk of POAG (P = 0.0054, OR = 4.47, 95% CI = 1.46-13.70). With regard to genotypic diversity, individuals carrying the minor allele of Asp299Gly and Thr399Ile had a significant increased risk for POAG with OR of 4.47 (P = 0.054, 95% CI = 1.30-15.35) and 3.5, respectively (P = 0.012, 95% CI = 1.17-10.44). Haplotype analysis was non-significant. CONCLUSIONS: TLR4 coding SNPs Asp299Gly and Thr399Ile might be used as genetic susceptibility alleles for POAG in Mexican population. Our findings support the role of TLR4 in the pathophysiology of glaucoma.
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DNA/genética , Predisposição Genética para Doença , Glaucoma de Ângulo Aberto/genética , Polimorfismo de Nucleotídeo Único , Receptor 4 Toll-Like/genética , Idoso , Alelos , Feminino , Frequência do Gene , Genótipo , Glaucoma de Ângulo Aberto/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase em Tempo Real , Receptor 4 Toll-Like/metabolismoRESUMO
The global health emergency caused by COVID-19 concluded in May 2023, marking the beginning of an endemic phase. This study aimed to evaluate the association between vaccination status and other patient characteristics and the risk of severe disease during this new endemic period. A nationwide cohort study was conducted in Mexico, where we analyzed data from 646 adults who had received positive confirmation of COVID-19 through PCR testing from May to August 2023. The overall risk of severe symptoms in the study sample was 5.3%. The average time elapsed from the last vaccine shot to symptom onset was over six months in all the immunized groups (1, 2 or 3 vaccine doses). Compared to unvaccinated patients, those with three vaccine doses showed an elevated risk of severe symptoms. Advancing age and various chronic comorbidities (specifically cardiovascular, kidney, and obstructive pulmonary conditions) were associated with a heightened risk of severe COVID-19 manifestations. These findings underscore the ongoing seriousness of COVID-19, even in an endemic phase, underscoring the urgent need for tailored interventions aimed at high-risk patients.
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Dengue fever remains a significant global health concern, imposing a substantial burden on public health systems worldwide. Recent studies have suggested that climate change, specifically the increase in surface temperatures associated with global warming, may impact the transmission dynamics of dengue. This study aimed to assess the relationship between annual surface temperature changes from 1961 to 2019 and the burden of dengue in 185 countries. The dengue burden was evaluated for 2019 using disability-adjusted life years (DALYs) and the annual rate of change (ARC) in DALY rates assessed from 1990 to 2019. A cross-sectional and ecological analysis was conducted using two publicly available datasets. Regression coefficients (ß) and 95% confidence intervals (CI) were used to examine the relationship between annual surface temperature changes and the burden of dengue. The results revealed a significant negative relationship between mean surface temperatures and DALY rates in 2019 (ß = -16.9, 95% CI -26.9 to -6.8). Similarly, a significant negative relationship was observed between the temperature variable and the ARC (ß = -0.99, 95% CI -1.66 to -0.32). These findings suggest that as temperatures continue to rise, the burden of dengue may globally decrease. The ecology of the vector and variations in seasons, precipitation patterns, and humidity levels may partially contribute to this phenomenon. Our study contributes to the expanding body of evidence regarding the potential implications of climate change for dengue dynamics. It emphasizes the critical importance of addressing climate change as a determinant of global health outcomes.
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The transmission of the dengue virus in Mexico has historically been high, and its burden during the COVID-19 pandemic is currently not well understood. Our objective was to assess the burden of dengue-related disability-adjusted life years (DALYs) between 2020 and 2022. We conducted a cross-sectional analysis of databases resulting from an epidemiological surveillance of vector-borne diseases and computed DALYs using the protocol of the Global Burden of Disease (GBD) study 2019. Our results showed that there were 218,807 incident cases of dengue during the study period, resulting in 951 deaths. The calculated DALYs (and their 95% confidence intervals) were 8121 (7897-8396), 4733 (4661-4820), and 8461 (8344-8605) in 2020, 2021, and 2022, respectively. The DALY rates (per 100,000) were 6.5 (6.3-6.6), 3.8 (3.7-3.9), and 6.7 (6.6-6.8), respectively. The rates for 2020 and 2022 were similar to the historical mean (6.4, p = 0.884), whereas the rate for 2021 was lower than the mean. Premature mortality (years of life lost, YLL) contributed to 91% of the total burden. Our findings suggest that dengue fever remained a significant cause of disease burden during the COVID-19 pandemic, especially in terms of premature mortality.
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In May 2023, the global health emergency status of COVID-19 concluded, marking the onset of an endemic era. This study assessed survival rates among PCR-confirmed adult inpatients during this phase and determined contributing factors. Employing a survival analysis approach, this investigation utilized a nationwide Mexican cohort encompassing 152 adult inpatients. Survival rates were computed using the Kaplan-Meier method, and a proportional Cox model identified mortality risk factors. Survival rates remained above 65% on day 14 after admission. Vaccination status, including the number of doses administered, was not significantly associated with fatal outcomes. Chronic kidney disease or a history of immunosuppression (due to any cause) increased mortality risk. Our findings underscore the persistent severity of COVID-19 beyond the global health emergency, emphasizing the necessity for tailored interventions for vulnerable patients.
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BACKGROUND: Repeated SARS-CoV-2 infections are plausible and related published data are scarce. We aimed to identify factors associated with the risk of recurrent (three episodes) laboratory-confirmed symptomatic SARS-CoV-2 infections. METHODS: A retrospective cohort study was conducted, and 1,700 healthcare workers were enrolled. We used risk ratios (RR) and 95% confidence intervals (CI) to evaluate the factors associated with symptomatic SARS-CoV-2 infections. RESULTS: We identified 14 participants with recurrent illness episodes. Therefore, the incidence rate was 8.5 per 10,000 person months. In a multiple-model study, vaccinated adults (vs. unvaccinated, RR = 1.05 [1.03-1.06]) and those with a severe first illness episode (vs. mild disease, RR = 1.05 [1.01-1.10]) were at increased risk for repeated symptomatic SARS-CoV-2 reinfections. Increasing age showed a protective effect (per each additional year of age: RR = 0.98 [0.97-0.99]). CONCLUSIONS: Our results suggest that recurrent SARS-CoV-2 infections are rare events in adults, and they seem to be determined, partially, by vaccination status and age.
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The COVID-19 pandemic has had a devastating impact on global health, necessitating urgent and effective strategies to mitigate its consequences. Vaccination programs have been implemented worldwide to combat virus transmission and reduce the disease burden. This study aimed to investigate the relationship between COVID-19 vaccination coverage and all-cause excess mortality in 178 nations during the first two years of the pandemic. Multiple regression analysis, after adjusting for life expectancy at birth, confirmed a significant association between higher vaccination coverage and lower all-cause mortality rates (ß = -106.8, 95% CI -175.4 to -38.2, p = 0.002). These findings underscore the importance of vaccination campaigns in reducing overall mortality during the COVID-19 pandemic. Evidence-based decision making and resource allocation can benefit from this information, facilitating the optimization of vaccination strategies for maximal impact on mortality reduction. Further research and continuous monitoring are crucial to understanding the long-term effects of vaccination coverage on population health in the ongoing pandemic.
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OBJECTIVES: To compare, in a real-world scenario, the protective effect of vaccination and previous laboratory-confirmed symptomatic infection on the risk of COVID-19 pneumonia. METHODS: A retrospective study was conducted and 46,998 adults with laboratory-confirmed COVID-19 were enrolled. Risk ratios (RRs) and 95% confidence intervals (CIs) were used to evaluate the effect of the evaluated exposures on the risk of pneumonia. RESULTS: In multiple analysis and after adjusting by reinfection status, vaccinated participants were at reduced risk of developing pneumonia (RR = 0.974, 95% CI 0.965-0.983). The association of having had a previous infection was not significant (RR = 1.001, 95% CI 0.969-1.034). CONCLUSION: Our results suggest, and if later replicated, that COVID-19 vaccines provide better protection against pneumonia than previous symptomatic infections. Therefore, offering vaccination to all eligible subjects despite past COVID-19 infections might be relevant to reducing the pandemic-related burden.
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COVID-19 , Pneumonia , Adulto , COVID-19/prevenção & controle , Vacinas contra COVID-19 , Humanos , Pneumonia/epidemiologia , Pneumonia/prevenção & controle , Estudos Retrospectivos , SARS-CoV-2RESUMO
The burden of influenza in Mexico has been high. We aimed to characterize its epidemiological patterns before and during the coronavirus disease 2019 (COVID-19) pandemic. A retrospective cohort study was conducted and 5652 PCR-confirmed cases of influenza (October 2019-April 2022) were analyzed. The highest incidence (144 per million) was observed in December 2019 and rapidly decreased right before the start of the pandemic (February 2020). No cases were documented in the 2020-2021 season, and infections reemerged at a low level (8 per million) in December 2021. The case-fatality rates were around 5% in both seasons (p = 0.591). The dominant strains were AH1N1 and AH3N2 in the 2019-2020 and 2021-2022 seasons, respectively. In multiple analysis, males and older patients were at increased risk of a fatal outcome. Flu vaccination and infection by B lineages (vs. AH1N1) showed a protective effect. Our results suggest that the spread of the influenza virus reemerged in the 2021-2022 season when the SARS-CoV-2 Omicron variant (B.1.1.529) was dominant. Efforts focusing on the prevention of transmission of respiratory viral pathogens, together with flu vaccination, may be useful to reduce the risk of an influenza outbreak.
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We aimed to report the results from the Global Burden of Disease Study 2019 related to respiratory malignant tumors (tracheal, bronchial, and lung) in Mexico. We also evaluated the relationship between the burden of these neoplasms and the proportion of daily smokers and total lead emissions in 2019. A cross-sectional analysis of ecological data was performed. The burden of these tumors was 152,189 disability-adjusted life-years (DALYs), and years of life lost (YLL) contributed to 99% of them. The highest DALYs rates (per 100,000) were observed in the states of Sinaloa, Chihuahua, Baja California Sur, Sonora, and Nayarit. We documented a linear relationship between the DALYs rates and the prevalence of daily smokers (ß = 8.50, 95% CI 1.58-15.38) and the total lead emissions (tons/year: ß = 4.04, 95% CI 0.07-8.01). If later replicated, our study would provide insight into the major relevance of regulating tobacco use and the activities associated with the production of lead dust and other hazardous contaminants.
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OBJECTIVE: To evaluate the aptitude of parents regarding the educational impact of equity education for children to prevent child sexual abuse using participatory strategies. MATERIAL AND METHODS: Quasi-experimental design. Ninety-two parents with children in preschool were included in the study. The parents were given a course using participatory educational strategies for one hour daily over a period of 20 days. Prior to the course, a group of experts in child education and sexology prepared a questionnaire with 20 sentences. A Wilcoxon test was used to compare intergroup differences RESULTS: We found statistically significant differences in the parents' responses before and after the educational intervention, with a median (range) of 10(2-12)/18(6-20), p<0.01. CONCLUSIONS: A significant change in aptitude was noted when parents attended classes using a participatory strategy to learn about the impact of educational equity for the prevention of child sexual abuse. Thus, it is imperative to continue evaluating different educational strategies.
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Aptidão , Abuso Sexual na Infância/prevenção & controle , Pais/educação , Adulto , Idoso , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
BACKGROUND: Influenza remains a common cause of morbidity and mortality worldwide, and viral subtype-related differences in disease outcomes have been documented. OBJECTIVE: To characterize the survival experience of adult inpatients with influenza virus-associated pneumonia by viral subtype during five consecutive flu seasons. METHOD: We performed a retrospective cohort study; data from 4,678 adults were analyzed using the Kaplan-Meier method. A multivariate Cox proportional hazard regression model was fitted. RESULTS: The overall in-hospital mortality rate was 25.0 per 1,000 hospital days. The survival probabilities from pneumonia patients went from 93.4% (95% CI 92.6-94.1%) by day three to 43.3% (95% CI 39.2-47.4%) by day 30 from hospital admission. In general, the lowest survival rates were observed in patients with AH1N1 infection. In multiple models, after adjusting for comorbidities and when compared with A non-subtyped virus, pneumonia patients with AH3N2 or B strains had a significantly decreased risk of a non-favorable disease outcome. The association of other strains was not significant. CONCLUSIONS: Our findings suggest that the survival of inpatients with influenza virus-associated pneumonia varies according to the pathogenic viral subtype; the lowest survival rates were observed in patients with AH1N1 infection. This effect was independent of the patients' gender, age, and the analyzed underlying health conditions.
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Vírus da Influenza A Subtipo H1N1 , Influenza Humana , Pneumonia Viral , Pneumonia , Adulto , Hospitalização , Humanos , Influenza Humana/epidemiologia , Pneumonia/epidemiologia , Pneumonia Viral/epidemiologia , Estudos RetrospectivosRESUMO
OBJECTIVE: To evaluate the performance of an instrument for predicting chronic chikungunya arthritis (CCA) in adult patients. METHODS: A diagnostic test study was conducted and data from 217 confirmed cases of chikungunya virus (CHIKV) illness were analyzed. Two chronic chikungunya arthralgia scales (3-item CCAS-3 and 4-item CCAS-4) were constructed. RESULTS: Modest performance of the CCAS-3 scale was documented at the two given cut-off points. A CCAS-4 score ≥3 showed high sensitivity and specificity for predicting the persistence of CCA at 12 months after acute disease. CONCLUSIONS: If replicated in other populations, these results could be useful in the medical management of patients with symptomatic CHIKV infection.
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Artrite/diagnóstico , Febre de Chikungunya/diagnóstico , Adulto , Artralgia/diagnóstico , Artralgia/virologia , Artrite/virologia , Febre de Chikungunya/virologia , Vírus Chikungunya/fisiologia , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Purpose: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for ~5-10% of all diagnosed breast and ovarian cancers. Breast cancer is the most common malignancy and the leading cause of cancer-related mortality among women in Latin America (LA). The main objective of this study was to develop a comprehensive understanding of the genomic epidemiology of HBOC throughout the establishment of The Latin American consortium for HBOC-LACAM, consisting of specialists from 5 countries in LA and the description of the genomic results from the first phase of the study. Methods: We have recruited 403 individuals that fulfilled the criteria for HBOC from 11 health institutions of Argentina, Colombia, Guatemala, Mexico and Peru. A pilot cohort of 222 individuals was analyzed by NGS gene panels. One hundred forty-three genes were selected on the basis of their putative role in susceptibility to different hereditary cancers. Libraries were sequenced in MiSeq (Illumina, Inc.) and PGM (Ion Torrent-Thermo Fisher Scientific) platforms. Results: The overall prevalence of pathogenic variants was 17% (38/222); the distribution spanned 14 genes and varied by country. The highest relative prevalence of pathogenic variants was found in patients from Argentina (25%, 14/57), followed by Mexico (18%, 12/68), Guatemala (16%, 3/19), and Colombia (13%, 10/78). Pathogenic variants were found in BRCA1 (20%) and BRCA2 (29%) genes. Pathogenic variants were found in other 12 genes, including high and moderate risk genes such as MSH2, MSH6, MUTYH, and PALB2. Additional pathogenic variants were found in HBOC unrelated genes such as DCLRE1C, WRN, PDE11A, and PDGFB. Conclusion: In this first phase of the project, we recruited 403 individuals and evaluated the germline genetic alterations in an initial cohort of 222 patients among 4 countries. Our data show for the first time in LA the distribution of pathogenic variants in a broad set of cancer susceptibility genes in HBOC. Even though we used extended gene panels, there was still a high proportion of patients without any detectable pathogenic variant, which emphasizes the larger, unexplored genetic nature of the disease in these populations.
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OBJECTIVE: To measure the frequency of drug allergies in patients with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA), and register the causal drug, the type, and severity of the reaction. MATERIAL AND METHODS: Direct interview and chart review in patients with RA and SLE were conducted. We registered demographic data, drug allergies, the causal drug, how causality was assessed, and the type and severity of the allergic reaction. We include as drug allergies only those cases in which the result of exposure and re-exposure was known or in which a physician evaluating the original event established the causality link with the suspected drug. Differences between groups were assessed by chi test. RESULTS: Two hundred ninety-three RA and 58 patients with SLE were included. Fifty-three of the patients with RA (18%) and 20 of the patients with SLE (34.3%, P = 0.049) reported drug allergies. Most of them presented skin rash as their clinical expression of allergy (73%); anaphylaxis was reported in 4 cases (5%). Allergy to sulfa drugs is found more frequently in SLE (P = 0.0079). No differences were found when comparing the frequency of other drug allergies, such as penicillin and metamizole. DISCUSSION: Drug allergies are more frequent in SLE than in RA. Sulfa drugs are still the most frequent cause of drug allergies in SLE. Allergies because of drugs forbidden in the United States but easily available in specific ethnic groups are frequent in patients with SLE and RA. Their specific consumption must be intentionally assessed in cases of suspected drug allergies.
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Artrite Reumatoide/epidemiologia , Hipersensibilidade a Drogas/epidemiologia , Lúpus Eritematoso Sistêmico/epidemiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
This study aims to measure the frequency of medication error (ME) in rheumatology outpatients of the Social Security System (SS) in Mexico and to measure the costs by comparing the days lost at work as direct consequence of the medication error against the theoretical cost of no error in the process. A prospective 6-month survey was conducted in a reference hospital in Guadalajara, Mexico. ME was defined as any discrepancy between the prescription and medicine taken by patients. The origin of the discrepancy was identified and registered. We present 381 patients: 292 with rheumatoid arthritis, 57 with ankylosing spondylitis, and 32 with systemic lupus erythematosus. One hundred twenty seven (33%) had medication errors. Ninety eight (77%) got worse in their condition due to ME. Forty percent of MEs were due to patients' decisions, 41% to a lack of availability of medication which should have been provided by SS, and 18% to a non-justified medical decision by primary-care providers. Patients lost in average 3 working days each month because of the ME. The cost of ME is high. In the case analyzed, opportune access to treatment represents a lower cost for the system, but it represents a significant loss of days at work each month. ME is a signal of a system failure. Inter-professional teamwork is needed to perfect the system.
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Artrite Reumatoide/economia , Custos e Análise de Custo/economia , Lúpus Eritematoso Sistêmico/economia , Erros de Medicação/economia , Espondilite Anquilosante/economia , Adulto , Artrite Reumatoide/tratamento farmacológico , Feminino , Humanos , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Masculino , México , Pessoa de Meia-Idade , Estudos Prospectivos , Espondilite Anquilosante/tratamento farmacológicoRESUMO
OBJETIVO: Evaluar la aptitud en los padres sobre el impacto de educar con equidad a los menores, para prevenir abuso sexual infantil con una estrategia educativa participativa. MATERIAL Y MÉTODOS: Diseño cuasiexperimental. Se incluyó a 92 padres con hijos menores en preescolar que recibieron una intervención educativa con estrategia promotora participativa por una hora durante 20 días. Para evaluar el cambio de aptitud se construyó previamente un cuestionario estructurado con 20 enunciados, que fue validado por expertos en educación y sexología infantil. Para comparar la diferencia intragrupos se utilizó Wilcoxon. RESULTADOS: Se encontraron diferencias estadísticamente significativas en las respuestas de los padres antes/después de la intervención educativa con un valor en la mediana (rango) 10(2-12)/18(6-20), p<0.01. CONCLUSIÓN: Después de la intervención educativa participativa, se encontró un cambio de aptitud en los padres al adquirir un mayor aprendizaje sobre el impacto de educar con equidad a los menores para prevenir abuso. Es necesario continuar evaluando diferentes estrategias educativas.
OBJECTIVE: To evaluate the aptitude of parents regarding the educational impact of equity education for children to prevent child sexual abuse using participatory strategies. MATERIAL AND METHODS: Quasi-experimental design. Ninety-two parents with children in preschool were included in the study. The parents were given a course using participatory educational strategies for one hour daily over a period of 20 days. Prior to the course, a group of experts in child education and sexology prepared a questionnaire with 20 sentences. A Wilcoxon test was used to compare intergroup differences RESULTS: We found statistically significant differences in the parents' responses before and after the educational intervention, with a median (range) of 10(2-12)/18(6-20), p<0.01. CONCLUSIONS: A significant change in aptitude was noted when parents attended classes using a participatory strategy to learn about the impact of educational equity for the prevention of child sexual abuse. Thus, it is imperative to continue evaluating different educational strategies.