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2.
Animals (Basel) ; 14(5)2024 Feb 26.
Article in English | MEDLINE | ID: mdl-38473111

ABSTRACT

The production efficiency factor is widely used to measure the zootechnical performance of a batch of broilers. The unit cost of production brings new elements to improve efficiency evaluation and financial sustainability for this activity in agriculture. This research aims to evaluate the production efficiency level of the crop to maximize the return on investment. This study uses Data Envelopment Analysis (DEA) with the computational processing of the SIAD software (Integrated Decision Support System). The variables selected were poultry housing, age at slaughter, feed consumed, mortality, and unit cost. The chosen output variable was the total available weight. The analysis spans 31 decision-making units (DMUs) composed of integrated producers, unveiling a frontier of efficiency delineated by the most exemplary DMUs. Notably, only two DMUs, specifically DMU 4 and DMU 23, approached the threshold of maximum relative efficiency. This research illuminates the critical role of unit cost in enhancing the assessment of production efficiency and financial sustainability within the agriculture environment. By setting benchmarks for efficient management and operational protocols, our findings serve as a cornerstone for improving practices among less efficient DMUs, contributing significantly to the literature on agricultural efficiency and offering actionable insights for the poultry farming sector.

3.
Cancer Med ; 13(3): e6729, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38308422

ABSTRACT

BACKGROUND: Approximately 3/4 of ovarian cancers are diagnosed in advanced stages, with the high-grade epithelial ovarian carcinoma (EOC) accounting for 90% of the cases. EOC present high genomic instability and somatic loss-of-function variants in genes associated with homologous recombination mutational repair pathway (HR), such as BRCA1 and BRCA2, and in TP53. The identification of germline variants in HR genes in EOC is relevant for treatment of platinum resistant tumors and relapsed tumors with therapies based in synthetic lethality such as PARP inhibitors. Patients with somatic variants in HR genes may also benefit from these therapies. In this work was analyzed the frequency of somatic variants in BRCA1, BRCA2, and TP53 in an EOC cohort of Brazilian patients, estimating the proportion of variants in tumoral tissue and their association with progression-free survival and overall survival. METHODS: The study was conducted with paired blood/tumor samples from 56 patients. Germline and tumoral sequences of BRCA1, BRCA2, and TP53 were obtained by massive parallel sequencing. The HaplotypeCaller method was used for calling germline variants, and somatic variants were called with Mutect2. RESULTS: A total of 26 germline variants were found, and seven patients presented germline pathogenic or likely pathogenic variants in BRCA1 or BRCA2. The analysis of tumoral tissue identified 52 somatic variants in 41 patients, being 43 somatic variants affecting or likely affecting protein functionality. Survival analyses showed that tumor staging was associated with overall survival (OS), while the presence of somatic mutation in TP53 was not associated with OS or progression-free survival. CONCLUSION: Frequency of pathogenic or likely pathogenic germline variants in BRCA1 and BRCA2 (12.5%) was lower in comparison with other studies. TP53 was the most altered gene in tumors, with 62.5% presenting likely non-functional or non-functional somatic variants, while eight 14.2% presented likely non-functional or non-functional somatic variants in BRCA1 or BRCA2.


Subject(s)
Ovarian Neoplasms , Humans , Female , Carcinoma, Ovarian Epithelial/genetics , Brazil/epidemiology , Ovarian Neoplasms/genetics , DNA Repair , Germ Cells , Tumor Suppressor Protein p53/genetics , BRCA1 Protein/genetics , BRCA2 Protein/genetics
5.
Rev Bras Ginecol Obstet ; 45(8): e474-e479, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37683659

ABSTRACT

OBJECTIVE: Similar to Human Papillomavirus (HPV) genotypes, different lineages of a genotype also have different carcinogenic capabilities. Studies have shown that specific genotype lineages of oncogenic HPV are associated with variable risks for the development of cervical intraepithelial neoplasia (CIN2/CIN3) and cervical cancer. The present study aimed to analyze the genetic diversity of the HPV16 genotype in women with CIN2/CIN3 and cervical cancer, from the northeast region of Brazil. METHODS: A cross-sectional multicenter study was conducted in the northeast region of Brazil, from 2014 to 2016. This study included 196 cases of HPV16 variants (59 and 137 cases of CIN2/CIN3 and cervical cancer, respectively). The difference of proportion test was used to compare patients with CIN2/CIN3 and cervical cancer, based on the prevalent HPV16 lineage (p < 0.05). RESULTS: According to the histopathological diagnosis, the percentage of lineage frequencies revealed a marginal difference in the prevalence of lineage A in CIN2/CIN3, compared with that in cervical cancer (p = 0.053). For lineage D, the proportion was higher in cancer cases (32.8%), than in CIN2/CIN3 cases (16.9%), with p = 0.023. CONCLUSION: HPV16 lineage A was the most frequent lineage in both CIN2/CIN3 and cervical cancer samples, while lineage D was predominant in cervical cancer, suggesting a possible association between HPV16 lineage D and cervical cancer.


OBJETIVO: Tanto os tipos quanto as linhagens do Papilomavírus Humano (HPV) parecem ter diferentes capacidades carcinogênicas e estão associados a riscos variados para o desenvolvimento de neoplasia intraepitelial cervical (NIC) e câncer de colo do útero. O presente estudo tem como objetivo analisar a diversidade genética do genótipo HPV 16 nos casos de NIC2/NIC3 e câncer de colo de útero em mulheres da região Nordeste do Brasil. MéTODOS: Estudo transversal de base hospitalar realizado na região Nordeste do Brasil no período de 2014 a 2016. A amostra foi composta por 196 casos da variante HPV-16 (59 casos de NIC2/NIC3 e 137 de câncer do colo do útero). O teste de diferença de proporção foi usado para comparar os grupos NIC2/NIC3 e câncer de colo do útero por linhagem viral em relação à prevalência da linhagem HPV-16. Foi considerada significância estatística o valor de p < 0,05. RESULTADOS: As frequências de linhagem por diagnóstico histopatológico mostraram diferença limítrofe da linhagem A no grupo NIC2/NIC3 em relação ao grupo câncer de colo de útero (p = 0,053). Por outro lado, em relação à linhagem D, houve uma proporção maior nos casos de câncer (32,8%) quando comparado ao grupo NIC2/NIC3 (16,9%) e esta diferença se mostrou estatisticamente significante (p = 0,023). CONCLUSãO: A linhagem A do HPV-16 foi a mais frequente tanto nas amostras CIN2/CIN3 quanto nas amostras de câncer de colo de útero, enquanto a linhagem D predominou no câncer de colo do útero, sugerindo uma possível associação da linhagem D de HPV-16 com câncer de colo de útero.


Subject(s)
Papillomavirus Infections , Uterine Cervical Neoplasms , Humans , Female , Uterine Cervical Neoplasms/epidemiology , Brazil/epidemiology , Human Papillomavirus Viruses , Cross-Sectional Studies , Human papillomavirus 16/genetics , Papillomavirus Infections/complications , Papillomavirus Infections/epidemiology , Papillomaviridae
6.
Rev. bras. ginecol. obstet ; 45(8): 474-479, 2023. tab
Article in English | LILACS | ID: biblio-1515062

ABSTRACT

Abstract Objective Similar to Human Papillomavirus (HPV) genotypes, different lineages of a genotype also have different carcinogenic capabilities. Studies have shown that specific genotype lineages of oncogenic HPV are associated with variable risks for the development of cervical intraepithelial neoplasia (CIN2/CIN3) and cervical cancer. The present study aimed to analyze the genetic diversity of the HPV16 genotype in women with CIN2/CIN3 and cervical cancer, from the northeast region of Brazil. Methods A cross-sectional multicenter study was conducted in the northeast region of Brazil, from 2014 to 2016. This study included 196 cases of HPV16 variants (59 and 137 cases of CIN2/CIN3 and cervical cancer, respectively). The difference of proportion test was used to compare patients with CIN2/CIN3 and cervical cancer, based on the prevalent HPV16 lineage (p < 0.05). Results According to the histopathological diagnosis, the percentage of lineage frequencies revealed a marginal difference in the prevalence of lineage A in CIN2/CIN3, compared with that in cervical cancer (p = 0.053). For lineage D, the proportion was higher in cancer cases (32.8%), than in CIN2/CIN3 cases (16.9%), with p = 0.023. Conclusion HPV16 lineage A was the most frequent lineage in both CIN2/CIN3 and cervical cancer samples, while lineage D was predominant in cervical cancer, suggesting a possible association between HPV16 lineage D and cervical cancer.


Resumo Objetivo Tanto os tipos quanto as linhagens do Papilomavírus Humano (HPV) parecem ter diferentes capacidades carcinogênicas e estão associados a riscos variados para o desenvolvimento de neoplasia intraepitelial cervical (NIC) e câncer de colo do útero. O presente estudo tem como objetivo analisar a diversidade genética do genótipo HPV 16 nos casos de NIC2/NIC3 e câncer de colo de útero em mulheres da região Nordeste do Brasil. Métodos Estudo transversal de base hospitalar realizado na região Nordeste do Brasil no período de 2014 a 2016. A amostra foi composta por 196 casos da variante HPV-16 (59 casos de NIC2/NIC3 e 137 de câncer do colo do útero). O teste de diferença de proporção foi usado para comparar os grupos NIC2/NIC3 e câncer de colo do útero por linhagem viral em relação à prevalência da linhagem HPV-16. Foi considerada significância estatística o valor de p < 0,05. Resultados As frequências de linhagem por diagnóstico histopatológico mostraram diferença limítrofe da linhagem A no grupo NIC2/NIC3 em relação ao grupo câncer de colo de útero (p = 0,053). Por outro lado, em relação à linhagem D, houve uma proporção maior nos casos de câncer (32,8%) quando comparado ao grupo NIC2/NIC3 (16,9%) e esta diferença se mostrou estatisticamente significante (p = 0,023). Conclusão A linhagem A do HPV-16 foi a mais frequente tanto nas amostras CIN2/CIN3 quanto nas amostras de câncer de colo de útero, enquanto a linhagem D predominou no câncer de colo do útero, sugerindo uma possível associação da linhagem D de HPV-16 com câncer de colo de útero.


Subject(s)
Humans , Female , Human papillomavirus 16
7.
Procedia Comput Sci ; 214: 63-70, 2022.
Article in English | MEDLINE | ID: mdl-36514713

ABSTRACT

The recent increase in the number of cases of COVID-19 in Brazil and worldwide, caused by the Omicron Variant, has brought to light concern to the population and the government, especially in the states most affected by the pandemic. To find a way to help combat the pandemic, a case study was conducted to acquire new speedboats by the Brazilian Navy (BN), through the application of the ELECTRE-MOr multicriteria method. The boats would be employed as mobile hospitals, aiming to perform first aid and evacuation of patients from riverside regions to qualified hospitals. Another important use would be the transport of vaccines, medicines and basic supplies for riverside populations, such as water, food and hygiene materials. For the proposed analysis, we consulted three specialists from the BN, who evaluated eight boat models in seven tactical, operational and medical criteria. After the application of the method, the Guardian 25 and RAC boats were chosen to be employed in humanitarian assistance. This study brings a valuable contribution to academia and society since it represents the application of a multi-criteria decision-aid method in the state of the art to contribute to the solution of a real problem that affects millions of people in Brazil and worldwide.

8.
Viruses ; 14(12)2022 11 28.
Article in English | MEDLINE | ID: mdl-36560657

ABSTRACT

The APOBEC3 (A3) proteins are cytidine deaminases that exhibit the ability to insert mutations in DNA and/or RNA sequences. APOBEC3B (A3B) has been evidenced as a DNA mutagen with consistent high expression in several cancer types. Data concerning the A3B influence on HPV infection and cervical cancer are limited and controversial. We investigated the role of A3B expression levels in cervical cancer in affected women positive for infection by different HPV types. Tumor biopsies from cancerous uterine cervix were collected from 216 women registered at Hospital do Câncer II of Instituto Nacional de Câncer, and infecting HPV was typed. A3B expression levels were quantified from RNA samples extracted from cervical biopsies using real-time quantitative PCR. Median A3B expression levels were higher among HPV18+ samples when compared to HPV16+ counterparts and were also increased compared to samples positive for other HPV types. In squamous cell carcinoma, HPV18+ samples also showed increased median A3B expression when compared to HPV Alpha-9 species or only to HPV16+ samples. Our findings suggest that A3B expression is differentially upregulated in cervical cancer samples infected with HPV18. A3B could be potentially used as a biomarker for HPV infection and as a prognostic tool for clinical outcomes in the context of cervical cancer.


Subject(s)
Cytidine Deaminase , Papillomavirus Infections , Uterine Cervical Neoplasms , Female , Humans , Cytidine Deaminase/genetics , DNA , Human papillomavirus 18 , Minor Histocompatibility Antigens/genetics , Papillomavirus Infections/complications , Papillomavirus Infections/genetics , RNA, Messenger/genetics , Uterine Cervical Neoplasms/genetics , Uterine Cervical Neoplasms/virology
9.
Sci Rep ; 12(1): 18629, 2022 11 03.
Article in English | MEDLINE | ID: mdl-36329109

ABSTRACT

Several studies have demonstrated the cost-effectiveness of genetic testing for surveillance and treatment of carriers of germline pathogenic variants associated with hereditary breast/ovarian cancer syndrome (HBOC). In Brazil, seventy percent of the population is assisted by the public Unified Health System (SUS), where genetic testing is still unavailable. And few studies were performed regarding the prevalence of HBOC pathogenic variants in this context. Here, we estimated the prevalence of germline pathogenic variants in BRCA1, BRCA2 and TP53 genes in Brazilian patients suspected of HBOC and referred to public healthcare service. Predictive power of risk prediction models for detecting mutation carriers was also evaluated. We found that 41 out of 257 tested patients (15.9%) were carriers of pathogenic variants in the analyzed genes. Most frequent pathogenic variant was the founder Brazilian mutation TP53 c.1010G > A (p.Arg337His), adding to the accumulated evidence that supports inclusion of TP53 in routine testing of Brazilian HBOC patients. Surprisingly, BRCA1 c.5266dupC (p.Gln1756fs), a frequently reported pathogenic variant in Brazilian HBOC patients, was not observed. Regarding the use of predictive models, we found that familial history of cancer might be used to improve selection or prioritization of patients for genetic testing, especially in a context of limited resources.


Subject(s)
Breast Neoplasms , Neoplastic Syndromes, Hereditary , Ovarian Neoplasms , Female , Humans , Brazil/epidemiology , Prevalence , Ovarian Neoplasms/epidemiology , Ovarian Neoplasms/genetics , Ovarian Neoplasms/diagnosis , Genetic Predisposition to Disease , BRCA2 Protein/genetics , BRCA1 Protein/genetics , Breast Neoplasms/epidemiology , Breast Neoplasms/genetics , Breast Neoplasms/diagnosis , Carcinoma, Ovarian Epithelial , Delivery of Health Care , Germ-Line Mutation , Tumor Suppressor Protein p53/genetics
10.
Healthcare (Basel) ; 10(11)2022 Oct 28.
Article in English | MEDLINE | ID: mdl-36360488

ABSTRACT

The healthcare environment presents a large volume of personal and sensitive patient data that needs to be available and secure. Information and communication technology brings a new reality to healthcare, promoting improvements, agility and integration. Regarding high-level and complex decision-making scenarios, the Brazilian Navy (BN), concerning its healthcare field, is seeking to provide better management of its respective processes in its hospital facilities, allowing accurate control of preventive and curative medicine to members who work or have served there in past years. The study addresses the understanding, structure and clarifying variables related to the feasibility of technological updating and installing of a Hospital Information System (HIS) for BN. In this scenario, through interviews and analysis of military organization business processes, criteria and alternatives were established based on multi-criteria methodology as a decision aid. As methodological support for research and data processing, THOR 2 and PROMETHEE-SAPEVO-M1 methods were approached, both based on the scenarios of outranking alternatives based on the preferences established by the stakeholders in the problem. As a result of the methodological implementation, we compare the two implemented methods in this context, exposing the Commercial Software Purchase and Adoption of Free Software, integrated into Customization by the Marine Studies Foundation, as favorable actions to be adopted concerning HIS feasibility. This finding generates a comprehensive discussion regarding the BN perspective and changes in internal development in the military environment, prospecting alignment to the culture of private organizations in Information Technology for healthcare management. In the end, we present some conclusions concerning the study, exploring the main points of the decision-making analysis and for future research.

11.
Procedia Comput Sci ; 199: 40-47, 2022.
Article in English | MEDLINE | ID: mdl-35136456

ABSTRACT

The pandemic caused by the new coronavirus has brought to light a series of concerns for the Brazilian population and government departments due to the different costly consequences that it has generated. It has also mobilized different strategic fronts that plan and implement several mitigating measures against the virus. Besides, the search for solutions for adequate care for individuals in need of support has been constant. This work uses ELECTRE-MOr, a Multi-Criteria Decision Aid (MCDA) method, to support the logistic plan for the vaccine distribution throughout Brazil, essentially to remote areas. The method allows an objective and structured classification of ideal types of thermal boxes for the storage of immunobiological inside the Cold Chain, presenting the best alternative that maintains the quality of materials until the final destination and has the best cost-benefit. Currently, the ELECTRE-MOr model is under development in a computational tool in Python, allowing the use of the method intuitively and clearly, enabling professionals of any area of expertise to apply it.

12.
Procedia Comput Sci ; 199: 431-438, 2022.
Article in English | MEDLINE | ID: mdl-35136460

ABSTRACT

With the expansion of coronavirus in the World, the search for technology solutions based on the analysis and prospecting of diseases has become constant. The paper addresses a machine learning algorithms analysis used to predict and identify infected patients. For analysis, we use a multicriteria approach using the PROMETHEE-GAIA method, providing the structuring of alternatives respective to a set of criteria, thus enabling the obtaining of their importance degree under the perspective of multiple criteria. The study approaches a sensitivity analysis, evaluating the alternatives using the PROMETHEE I and II methods, along with the GAIA plan, both implemented by the Visual PROMETHEE computational tool, exploring numerical and graphical resources. The analysis model proves to be effective, guaranteeing the ranking of alternatives by inter criterion evaluation and local results with intra criterion evaluation, providing a transparent analysis concerning the selection of prediction algorithms to combat the COVID-19 pandemic.

13.
Exp Eye Res ; 211: 108753, 2021 10.
Article in English | MEDLINE | ID: mdl-34478740

ABSTRACT

Retinoblastoma is the most common malignant ocular tumor in children. Although RB1 alterations are most frequently involved in the etiology of retinoblastoma, candidate driver events and somatic alterations leading to cell transformation, tumor onset and progression remain poorly understood. In this study, we identified novel genomic alterations in tumors with a panel of 160 genes. Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) were initially performed for identifying patients without apparent RB1 alterations in blood DNA. Subsequently, NGS analyses of 24 paired (blood/tumor) samples of these patients were carried out for identifying somatic mutations and copy number variation in RB1 and other 159 genes. One novel pathogenic RB1 mutation and seven novel VUS were identified as well as 90 novel pathogenic mutations in 61 other genes. Twenty-three genes appeared exclusively mutated in tumors without altered RB1 alleles and three frequently affected biological pathways while five other tumors did not show pathogenic RB1 alterations or SNV/indels in 159 other genes. Curiously, deletion of GATA2, AKT1, ARID1A, DNMT3A, MAP2K2, MEN1, MTOR, PTCH1 and SUFU (in homo- or heterozygosity) were exclusively found in these tumors when compared to those with any pathogenic alterations, probably indicating genes that might be essential for the development of retinoblastoma regardless of a functional RB1. Identification of genes associated with retinoblastoma will contribute to understanding presently unknown aspects of this malignancy, which might be essential for its initiation and progression, as well as providing valuable molecular markers.


Subject(s)
Genes, Neoplasm/genetics , Mutation , Neoplasm Proteins/genetics , Retinal Neoplasms/genetics , Retinoblastoma Binding Proteins/genetics , Retinoblastoma/genetics , Ubiquitin-Protein Ligases/genetics , Alleles , Child, Preschool , DNA Copy Number Variations , DNA Mutational Analysis , Exons , Female , Humans , Infant , Male , Molecular Biology , Multiplex Polymerase Chain Reaction , Sequence Analysis, DNA
14.
Cancers (Basel) ; 13(14)2021 Jul 14.
Article in English | MEDLINE | ID: mdl-34298727

ABSTRACT

Retroelements are expressed in diverse types of cancer and are related to tumorigenesis and to cancer progression. We characterized the expression of retroelements in cervical cancer and explored their interplay with HPV infection and their association with expression of neighboring genes. Forty biopsies of invasive cervical carcinoma (squamous cell carcinomas and adenocarcinomas) with genotyped HPV were selected and analyzed for human endogenous retrovirus (HERV) and long interspersed nuclear element 1 (L1) expression through RNA-seq data. We found 8060 retroelements expressed in the samples and a negative correlation of DNA methyltransferase 1 expression with the two most expressed L1 elements. A total of 103 retroelements were found differentially expressed between tumor histological types and between HPV types, including several HERV families (HERV-K, HERV-H, HERV-E, HERV-I and HERV-L). The comparison between HPV mono- and co-infections showed the highest proportion of differentially expressed L1 elements. The location of retroelements affected neighboring gene expression, such as shown for the interleukin-20 gene family. Three HERVs and seven L1 were located close to this gene family and two L1 showed a positive association with IL20RB expression. This study describes the expression of retroelements in cervical cancer and shows their association with HPV status and host gene expression.

15.
Breast Cancer Res Treat ; 185(3): 851-861, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33128190

ABSTRACT

PURPOSE: This study aimed to identify and classify genetic variants in consensus moderate-to-high-risk predisposition genes associated with Hereditary Breast and Ovarian Cancer Syndrome (HBOC), in BRCA1/2-negative patients from Brazil. METHODS: The study comprised 126 index patients who met NCCN clinical criteria and tested negative for all coding exons and intronic flanking regions of BRCA1/2 genes. Multiplex PCR-based assays were designed to cover the complete coding regions and flanking splicing sites of six genes implicated in HBOC. Sequencing was performed on HiSeq2500 Genome Analyzer. RESULTS: Overall, we identified 488 unique variants. We identified five patients (3.97%) that harbored pathogenic or likely pathogenic variants in four genes: ATM (1), CHEK2 (2), PALB2 (1), and TP53 (1). One hundred and thirty variants were classified as variants of uncertain significance (VUS), 10 of which were predicted to disrupt mRNA splicing (seven non-coding variants and three coding variants), while other six missense VUS were classified as probably damaging by prediction algorithms. CONCLUSION: A detailed mutational profile of non-BRCA genes is still being described in Brazil. In this study, we contributed to filling this gap, by providing important data on the diversity of genetic variants in a Brazilian high-risk patient cohort. ATM, CHEK2, PALB2 and TP53 are well established as HBOC predisposition genes, and the identification of deleterious variants in such actionable genes contributes to clinical management of probands and relatives.


Subject(s)
Breast Neoplasms , Hereditary Breast and Ovarian Cancer Syndrome , Ovarian Neoplasms , BRCA1 Protein/genetics , BRCA2 Protein/genetics , Brazil/epidemiology , Breast Neoplasms/epidemiology , Breast Neoplasms/genetics , Consensus , Female , Genetic Predisposition to Disease , Germ Cells , Germ-Line Mutation , Hereditary Breast and Ovarian Cancer Syndrome/epidemiology , Hereditary Breast and Ovarian Cancer Syndrome/genetics , Humans , Ovarian Neoplasms/epidemiology , Ovarian Neoplasms/genetics , Prevalence
16.
BMC Womens Health ; 20(1): 162, 2020 08 01.
Article in English | MEDLINE | ID: mdl-32738888

ABSTRACT

BACKGROUND: Cervical cancer is the fourth most common type of cancer affecting women globally. In Brazil, it is the third most frequent type of cancer in women and HPV is present in approximately 90% of cases. Evidence suggests that variants of HPV 16 can interfere biologically and etiologically during the development of cervical cancer. METHODS: Cervix tumor fragments were collected, their DNA was extracted, and nested PCR was used to detect HPV. Positive samples were sequenced to determine the viral genotype. To characterize the HPV 16 strains, positive samples PCR was used to amplify the LCR and E6 regions of the HPV 16 virus. RESULTS: Data from 120 patients with cervical cancer were analyzed. Most women were between 41 and 54 years of age, had schooling until primary school, a family income between 1 and 2 times the minimum wage and were married/in a consensual union. There was no statistically significant association between HPV or socio-demographic variables and risk factors for cervical cancer (P <  0.05). HPV was present in 88 women (73%). The most prevalent types were HPV 16 (53.4%), HPV 18 (13.8%), HPV 35 (6.9%) and HPV 45 (5.7%). Of the 47 HPV 16 positive cases, variant A (49%) was present in 23 samples, followed by variant D in 20 cases (43%), and variants B and C in 2 cases each (4%). The most prevalent histological type of HPV 16 tumors was squamous cell carcinoma, followed by adenocarcinoma. There was a statistically significant association between HPV 16 variants and the tumors' histological types (P <  0.001). CONCLUSIONS: Knowledge of HPV 16 variants will provide data on their influence on the pathological and oncogenic aspects of cervical lesions.


Subject(s)
DNA, Viral/genetics , Human papillomavirus 16/genetics , Human papillomavirus 16/isolation & purification , Papillomaviridae/genetics , Papillomavirus Infections/virology , Uterine Cervical Neoplasms/virology , Adult , Aged , Aged, 80 and over , Brazil/epidemiology , Female , Genetic Variation , Human papillomavirus 16/classification , Humans , Middle Aged , Papillomaviridae/classification , Papillomaviridae/isolation & purification , Papillomavirus Infections/epidemiology , Papillomavirus Infections/pathology , Polymerase Chain Reaction , Prospective Studies , Uterine Cervical Neoplasms/epidemiology , Uterine Cervical Neoplasms/pathology
17.
Genet Mol Biol ; 43(2): e20190072, 2020.
Article in English | MEDLINE | ID: mdl-32453342

ABSTRACT

Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresponds to 20% of pathogenic BRCA1 variants reported. Our objective was to investigate the haplotype component of a group of Brazilian families who inherited c.5266dupC in the BRCA1 gene and to verify the ancestry contribution from European, African, and Amerindian origins. Fourteen probands carrying c.5266dupC and 16 relatives (carriers and non-carriers) were investigated. The same haplotype was observed segregating within all the families analyzed, revealing no recombinants in a region of 0.68 Mb. Ancestry analysis demonstrated that the European component was predominant among probands. The BRCA1 c.5266dupC analysis indicates that there was a founder effect in the Brazilian population.

18.
J Med Virol ; 92(8): 1283-1289, 2020 08.
Article in English | MEDLINE | ID: mdl-31696949

ABSTRACT

INTRODUCTION: The human papillomavirus (HPV) E5 gene encodes a small and highly hydrophobic oncoprotein that affects immune evasion, cell proliferation, loss of apoptotic capacity and angiogenesis in tumors. E5 shows an affinity for biological membranes and was associated with an increase of epidermal growth factor/epidermal growth factor receptor (EGF/EGFR) signaling through the accumulation of EGFR in cellular membranes. Due to the frequent integration of the HPV genome into the host cell genome, E5 is frequently not transcribed in cervical tumors. AIM: In this study we looked forward to verifying whether the potential expression of E5 protein in human papillomavirus 16 positive (HPV16+ ) and human papillomavirus 18 positive (HPV18+ ) cervical tumors was associated with levels of EGFR and vascular endothelial growth factor A (VEGFA) transcription and with patients overall survival. RESULTS: Association between the presence of E5 transcripts and viral genome disruption was observed for HPV16+ and HPV18+ tumors. Association was not observed between tumors potentially capable of translating E5 and EGFR or VEGFA transcriptional levels. Similarly, the capability of translating E5 and overall survival in patients with HPV16+ squamous cell carcinoma tumors stage ≥ IB2 were not associated. CONCLUSION: The likely presence of E5 transcripts was neither associated to a higher activity of the EGFR-VEGFA pathway nor to the overall survival of patients with HPV16+ squamous cell carcinoma in stages ≥ IB2.


Subject(s)
Carcinoma, Squamous Cell/virology , Oncogene Proteins, Viral/genetics , Transcription, Genetic , Uterine Cervical Neoplasms/virology , Adult , Carcinoma, Squamous Cell/classification , ErbB Receptors/genetics , ErbB Receptors/metabolism , Female , Genome, Viral , Humans , Middle Aged , Signal Transduction , Survival Analysis , Vascular Endothelial Growth Factor A/genetics
19.
Eur J Cancer Prev ; 29(4): 342-345, 2020 07.
Article in English | MEDLINE | ID: mdl-31577564

ABSTRACT

To understand the impact of demographic, behavioral and contextual factors on cervical cancer, we examined the profile of women classified according to cervical cancer staging [precursor lesions cervical intraephitelial neoplasia (CIN2/CIN3), early- and advanced-stage cancer]. Patients were identified in the main oncological reference hospital in Pará State, Brazil, from 2013 through 2015. Adjusted prevalence ratios and their respective 95% confidence intervals were estimated using Poisson regression with robust variance. The study included 172 cases of CIN2/CIN3 lesions, 158 of early stage and 552 of advanced stage of cervical cancer. The proportion of gynecological complaints as a reason for clinic visit was 2.3 times higher among patients at an early stage compared with patients with CIN2/CIN3 lesions. Compared with early-stage cancer groups, the prevalence of advanced-stage cancer was higher among older patients, those without paid activity (adjusted prevalence ratio = 1.15; confidence interval 95%: 1.03-1.29), those who never had a Pap test (adjusted prevalence ratio = 1.23; confidence interval 95%: 1.08-1.40), those who were seen at the hospital clinic due to gynecological complaints (adjusted prevalence ratio = 1.48; confidence interval 95%: 1.19-1.85) and those who underwent biopsy in the private care system (adjusted prevalence ratio = 1.12; confidence interval 95%: 1.02-1.22). These differences seem to reflect problems in the health system, low socioeconomic level and poor awareness of the importance of Pap tests among those with a diagnosis of advanced-stage cervical cancer.


Subject(s)
Early Detection of Cancer/statistics & numerical data , Health Knowledge, Attitudes, Practice , Uterine Cervical Dysplasia/epidemiology , Uterine Cervical Neoplasms/epidemiology , Adult , Brazil/epidemiology , Cervix Uteri/pathology , Early Detection of Cancer/methods , Early Detection of Cancer/psychology , Female , Humans , Middle Aged , Neoplasm Staging , Papanicolaou Test/psychology , Papanicolaou Test/statistics & numerical data , Patient Acceptance of Health Care/psychology , Patient Acceptance of Health Care/statistics & numerical data , Prevalence , Socioeconomic Factors , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Neoplasms/pathology , Uterine Cervical Neoplasms/prevention & control , Vaginal Smears/psychology , Vaginal Smears/statistics & numerical data , Young Adult , Uterine Cervical Dysplasia/diagnosis , Uterine Cervical Dysplasia/pathology
20.
Arch Gynecol Obstet ; 300(6): 1671-1677, 2019 12.
Article in English | MEDLINE | ID: mdl-31616988

ABSTRACT

PURPOSE: The aim of this study was to investigate the impact of body mass index (BMI) on disease-free survival (DFS) and overall survival (OS) in women diagnosed with EEC and treated at the Brazilian National Cancer Institute. METHODS: The study comprised 849 women diagnosed with EEC who underwent surgical treatment between January, 2000 and December, 2011. The demographic and clinical characteristics of these patients were collected from medical records and their nutritional status was based on the BMI criteria. Univariate (OS and DFS) and multivariate analyses were performed using the Kaplan-Meier method and Cox proportional hazards models, respectively. RESULTS: About 83.2% of patients were obese or overweight at time of diagnosis, with a mean BMI of 31.83. Patients were followed for an average of 34.97 months. There were 111 recurrences (13.1%) and 140 deaths (16.5%), with mean DFS of 51.90 months and mean OS of 52.25 months. There was no significant association between BMI and DFS or OS. In multivariate analysis we did not find an increased hazard of recurrence or death among overweight or obese patients. CONCLUSION: Overweight and obesity had no impact on EEC prognosis on the assessed cohort. Further studies are warranted.


Subject(s)
Carcinoma, Endometrioid/mortality , Endometrial Neoplasms/mortality , Obesity/complications , Overweight/complications , Aged , Body Mass Index , Female , Humans , Middle Aged , Prognosis , Retrospective Studies
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