Mother's smoking habits affects IL10 methylation but not asthma in Ecuadorian children.

There is no evidence evaluating the IL10 epigenetic upregulation among mestizo children in a high-altitude Andean city in Latin America. OBJECTIVE: To identify polymorphisms and methylation profiles in the IL10 gene associated with asthma in children aged 5 to 11. METHODS: A case-control study was conducted with asthmatic and non-asthmatic children aged 5 to 11 years in Cuenca-Ecuador. Data on allergic diseases and risk factors were collected through a questionnaire for parents. Atopy was measured by skin prick test (SPT) to relevant aeroallergens. Three IL10 single nucleotide polymorphisms were evaluated in all participants, and methylation analysis was performed in 54 participants. Association between risk factors, allergic diseases and genetic factors were estimated using multivariate logistic regression. RESULTS: The results of polymorphisms showed no differences between cases and controls when comparing the SNPs rs3024495, rs3024496, rs1800896 allelic and genotypic frequencies. In the methylation analysis, no differences in the IL10 methylation profile were found between cases and controls; however, the multivariate analysis showed an association between the mother's smoking habits and the IL10 methylation profile. CONCLUSION: Smoking habit could be essential as an environmental exposure factor in regulating gene expression in children with asthma.

Barriers and facilitators to cervical cancer screening among under-screened women in Cuenca, Ecuador: the perspectives of women and health professionals.

BACKGROUND: Cervical cancer screening is a cost-effective method responsible for reducing cervical cancer-related mortality by 70% in countries that have achieved high coverage through nationwide screening strategies. However, there are disparities in access to screening. In Ecuador, although cervical cancer is the second most common cancer in women, only 58.4% of women of reproductive age have ever been screened for cervical cancer. METHODOLOGY: A qualitative study was performed to understand the current barriers to screening and to identify strategies that could increase uptake in Azuay province, Ecuador. Seven focus group discussions (FGDs) were conducted with under-screened women and health professionals (HPs). The FGDs were recorded and transcribed. Content analysis was done using the socio-ecological framework to categorize and analyse the data. RESULTS: Overall, 28 women and 27 HPs participated in the study. The two groups perceived different barriers to cervical cancer screening. The HPs considered barriers to be mainly at the policy level (lack of a structured screening plan; lack of health promotion) and the individual level (lack of risk perception; personal beliefs). The women identified barriers mainly at organizational level, such as long waiting times, lack of access to health centres, and inadequate patient-physician communication. Both groups mentioned facilitators at policy level, such as national campaigns promoting cervical cancer screening, and at community and individual level, including health literacy and women's empowerment. CONCLUSIONS: The women considered access to health services the main barrier to screening, while the HPs identified a lack of investment in screening programmes and cultural patterns at the community level as major obstacles. To take an integrated approach to cervical cancer prevention, the perspectives of both groups should be taken into account. Additionally, new strategies and technologies, such as self-administered human papillomavirus (HPV) testing and community participation, should be implemented to increase access to cervical cancer screening.

Knowledge and Perceptions about Cervical Cancer and HPV Screening in Women in Rural Areas of Ecuador: A Qualitative Research Study.

BACKGROUND: Cervical cancer continues to be a major health problem in developing countries. Educational programs, as well as Pap and HPV screening and vaccination, are important tools to reduce the morbidity and mortality rates associated with this disease. The objective of this study is to explore the diverse knowledge and perceptions about cervical cancer and the different diagnostic tests for HPV of populations living in the rural parish "El Valle". METHOD: A qualitative study was conducted through eight focus groups, which included 46 participants from mixed ethnic groups. A phenomenological analysis was performed. RESULTS: Four topics and seven sub-topics were identified. By analyzing all the narratives, it was possible to identify that the perception of cervical cancer was focused on its severity, secondary to its infectious process and screening periodicity. However, despite the diverse knowledge, indigenous people do not relate it to the human papilloma virus; in addition, there is also certain resistance to undergo the Pap smear test, for reasons such as inaccessibility and its sampling process. CONCLUSIONS: It is necessary to develop educational programs for the prevention of cervical cancer and to implement diagnostic alternatives to reach populations with precarious accessibility, as well as women who refuse to undergo the Pap smear test.

Evaluation of Urine and Vaginal Self-Sampling versus Clinician-Based Sampling for Cervical Cancer Screening: A Field Comparison of the Acceptability of Three Sampling Tests in a Rural Community of Cuenca, Ecuador.

Self-sampling methods for HPV testing have been demonstrated to be highly sensitive and specific. The implementation of these methods in settings with a lack of infrastructure or medical attention has been shown to increase the coverage of cervical cancer screening and detect cervical abnormalities in the early stages. The aim of this study is to compare the acceptability of urine and vaginal self-sampling methods versus clinician sampling among rural women. A total of 120 women participated. Each participant self-collected urine and vaginal samples and underwent clinician sampling for Pap smear and HPV testing. After the sample collection, a questionnaire to qualify the device, technique, and individual acceptability was applied, and the additional overall preference of three sample tests was evaluated. Results: The characteristics of the participants were as follows: median age of 35 years; 40.8% were married; 46.7% had a primary level of education; median age of sexual onset of 17.6 years. Compared with clinician sampling, both vaginal self-sampling, OR 20.12 (7.67-52.8), and urine sampling, OR 16.63 (6.79-40.72), were more comfortable; granted more privacy: vaginal self-sampling, OR 8.07 (3.44-18.93), and urine sampling, OR 19.5 (5.83-65.21); were less painful: vaginal self-sampling, OR 0.07 (0.03-0.16), and urine sampling, OR 0.01 (0-0.06); were less difficult to apply: vaginal self-sampling, OR 0.16 (0.07-0.34), and urine sampling, OR 0.05 (0.01-0.17). The overall preference has shown an advantage for vaginal self-sampling, OR 4.97 (2.71-9.12). No statistically significant preference was demonstrated with urine self-sampling versus clinician sampling. Conclusions: Self-sampling methods have a high acceptance in rural communities. Doubts on the reliability of self-sampling often appear to be a limitation on its acceptability. However, the training and education of the community could increase the uptake of these methods.

Prevalence of Chlamydia trachomatis, Ureaplasma urealyticum, and Neisseria gonorrhoeae in Asymptomatic Women from Urban-Peripheral and Rural Populations of Cuenca, Ecuador.

BACKGROUND: Sexually transmitted diseases (STDs) are a serious public health issue due to their high prevalence and a substantial percentage of women being asymptomatic. The present study aimed to determine the prevalence of three STD-causative pathogens in asymptomatic women from Southern Ecuador, with the ultimate purpose of updating the epidemiological data and obtaining a timely diagnosis, which can prevent further complications. METHODS: This cross-sectional study included 102 asymptomatic women from Cuenca, Ecuador, who underwent a cervical cytology examination. They met all the inclusion criteria and signed the consent form. Nucleic acids were extracted from each sample, and PCR and flow-through hybridization were performed to detect the pathogens responsible for three STDs. Descriptive and inferential statistics were used to define and describe the study population, obtain the frequency data, and measure central tendencies to determine possible associations among the variables. RESULTS: We found that 49.02% of the participants were infected with at least one of the three microorganisms, with 48.04% and 2.94% carrying Ureaplasma urealyticum (UU) and Chlamydia trachomatis (CT), respectively. Neisseria gonorrhoeae (NG) infection was not observed. Among the participants, 1.96% presented co-infections with CT and UU. Approximately half of the participants presented with asymptomatic infections caused by at least one microorganism. CONCLUSIONS: This study demonstrates the importance of conducting regular STD screening programs for high-risk asymptomatic women.

Radiomics Diagnostic Tool Based on Deep Learning for Colposcopy Image Classification.

BACKGROUND: Colposcopy imaging is widely used to diagnose, treat and follow-up on premalignant and malignant lesions in the vulva, vagina, and cervix. Thus, deep learning algorithms are being used widely in cervical cancer diagnosis tools. In this study, we developed and preliminarily validated a model based on the Unet network plus SVM to classify cervical lesions on colposcopy images. Methodology: Two sets of images were used: the Intel & Mobile ODT Cervical Cancer Screening public dataset, and a private dataset from a public hospital in Ecuador during a routine colposcopy, after the application of acetic acid and lugol. For the latter, the corresponding clinical information was collected, specifically cytology on the PAP smear and the screening of human papillomavirus testing, prior to colposcopy. The lesions of the cervix or regions of interest were segmented and classified by the Unet and the SVM model, respectively. Results: The CAD system was evaluated for the ability to predict the risk of cervical cancer. The lesion segmentation metric results indicate a DICE of 50%, a precision of 65%, and an accuracy of 80%. The classification results' sensitivity, specificity, and accuracy were 70%, 48.8%, and 58%, respectively. Randomly, 20 images were selected and sent to 13 expert colposcopists for a statistical comparison between visual evaluation experts and the CAD tool (p-value of 0.597). Conclusion: The CAD system needs to improve but could be acceptable in an environment where women have limited access to clinicians for the diagnosis, follow-up, and treatment of cervical cancer; better performance is possible through the exploration of other deep learning methods with larger datasets.

Role of Self-Sampling for Cervical Cancer Screening: Diagnostic Test Properties of Three Tests for the Diagnosis of HPV in Rural Communities of Cuenca, Ecuador.

BACKGROUND: HPV primary screening has shown effectiveness for cancer prevention; however, gynaecological examination is considered uncomfortable. Self-sampling methods increase the acceptance of screening. The aim of this study is to compare the sensitivity and specificity of clinician sampling versus vaginal and urine self-sampling for HPV diagnosis. METHODS: A diagnostic test study was conducted in a rural parish of Cuenca, Ecuador. A total of 120 women participated. Each participant self-collected urine and vaginal samples and underwent clinician sampling for HPV testing. The latter was considered as the golden standard. All three samples were processed with the same amplification and hybridization protocol for HPV detection (Hybribio) following the manufacturer's instructions. RESULTS: Characteristics of the participants were: median age 35 years; 40.8% married; 46.7% had a primary level of education; and median age of sexual onset, 17.6 years. The prevalence of any type of HPV with clinician sampling was 15.0%, 17.5% with urine sampling and 18.3% with vaginal self-sampling. Self-sampling sensitivity reached 94.4% (IC 74.2-99.9), and specificity 92.1% (IC 85.2-95.9). Urine sampling had a sensitivity of 88.8% (IC 67.2, 96.9), and specificity 94.1% (IC 67.2-96.9). The negative predictive value was 98.9% (IC 94.2-99.8) for vaginal self-sampling and 97.6% (IC 92.6-99.4) for urine sampling. CONCLUSIONS: This study shows that vaginal and urine self-sampling methods have similar sensitivity and specificity compared with clinician sampling for the diagnosis of HPV. The correlation between HPV genotypes among the three tests is satisfactory.

A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.

We report a girl with intellectual disability (ID), neuropsychiatric alterations, and a de novo balanced t(10;19)(q22.3;q13.33) translocation. After chromosome sorting, fine mapping of breakpoints by array painting disclosed disruptions of the zinc finger, MIZ-type containing 1 (ZMIZ1) (on chr10) and proline-rich 12 (PRR12) (on chr19) genes. cDNA analyses revealed that the translocation resulted in gene fusions. The resulting hybrid transcripts predict mRNA decay or, if translated, formation of truncated proteins, both due to frameshifts that introduced premature stop codons. Though other molecular mechanisms may be operating, these results suggest that haploinsufficiency of one or both genes accounts for the patient's phenotype. ZMIZ1 is highly expressed in the brain, and its protein product appears to interact with neuron-specific chromatin remodeling complex (nBAF) and activator protein 1 (AP-1) complexes which play a role regulating the activity of genes essential for normal synapse and dendrite growth/behavior. Strikingly, the patient's phenotype overlaps with phenotypes caused by mutations in SMARCA4 (BRG1), an nBAF subunit presumably interacting with ZMIZ1 in brain cells as suggested by our results of coimmunoprecipitation in the mouse brain. PRR12 is also expressed in the brain, and its protein product possesses domains and residues thought to be related in formation of large protein complexes and chromatin remodeling. Our observation from E15 mouse brain cells that a Prr12 isoform was confined to nucleus suggests a role as a transcription nuclear cofactor likely involved in neuronal development. Moreover, a pilot transcriptome analysis from t(10;19) lymphoblastoid cell line suggests dysregulation of genes linked to neurodevelopment processes/neuronal communication (e.g., NRCAM) most likely induced by altered PRR12. This case represents the first constitutional balanced translocation disrupting and fusing both genes and provides clues for the potential function and effects of these in the central nervous system.

De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features.

Xq28 duplication, including the MECP2 gene, is among the most frequently identified Xq subtelomeric rearrangements. The resulting clinical phenotype is named Lubs syndrome and mainly consists of intellectual disability, congenital hypotonia, absent speech, recurrent infections, and seizures. Here we report a Mexican male patient carrying a supernumerary marker chromosome with de novo Xq28 gain. By MLPA, duplication of MECP2, GDI1, and SLC6A8 was found and a subsequent a-CGH analysis demonstrated that the gain spanned ~2.1Mb. Despite gain of the MECP2 gene, the features of this patient do not evoke Lubs syndrome. Probably the mosaicism of the supernumerary marker chromosome is modifying the phenotype in this patient.