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1.
Diagnostics (Basel) ; 10(8)2020 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-32751449

RESUMO

The etiology of endometriosis is highly complex, and although it is a benign disease, it has several biological behaviors similar to malignant lesions, including cell invasion, neo-angiogenesis, and decreased apoptosis. Survivin is a protein encoded by the BIRC5 gene that plays a role in cell division by inhibiting apoptosis and regulating the process of mitosis in embryonic and cancer cells. Therefore, we aimed to evaluate the expression of BIRC5 in samples of peripheral blood of women with and without endometriosis. This study comprised of 40 women with endometriosis and 10 healthy women as controls. Peripheral blood samples were collected in the three phases of the menstrual cycle (follicular, ovulatory, and luteal). The expression of the BIRC5 gene was evaluated by RT-qPCR using the TaqMan methodology. The BIRC5 expression was significantly higher in all phases of the menstrual cycle in women with endometriosis, regardless of the disease stage. The accuracy of BIRC5 expression in the peripheral blood for the diagnosis endometriosis presented AUC of 0.887 (p < 0.001), with 97.2% of sensitivity and specificity of 65.5% considering the overall endometriosis group. Regarding the minimal/mild endometriosis group, the AUC presented a value of 0.925 (p < 0.001), with 100% of sensitivity and 79.3% of specificity, whereas in the moderate/severe endometriosis group the AUC was 0.868 (p < 0.001), with a sensitivity of 95.8% and specificity of 65.5%. These findings suggest that the expression of BIRC5 may be a potential noninvasive biomarker for the diagnosis of endometriosis.

2.
DNA Cell Biol ; 39(6): 1012-1022, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32352843

RESUMO

Kisspeptin has been identified as a key regulatory protein in the release of gonadotropin-releasing hormone (GnRH), which subsequently increases gonadotropin secretion during puberty to establish reproductive function and regulate the hypothalamic-pituitary-gonadal axis. The effects of variants in the KISS1, KISS1R, and GNRHR genes and their possible association with assisted reproduction outcomes remain to be elucidated. In this study, we used next-generation sequencing to investigate the associations of the genetic diversity at the candidate loci for KISS1, KISS1R, and GNRHR with the hormonal profiles and reproductive outcomes in 86 women who underwent in vitro fertilization treatments. Variants in the KISS1 and KISS1R genes were associated with luteinizing hormone (rs35431622:T>C), anti-Mullerian hormone (rs71745629delT), follicle-stimulating hormone (rs73507529:C>A), and estradiol (rs73507527:G>A, rs350130:A>G, and rs73507529:C>A) levels, as well as with reproductive outcomes such as the number of oocytes retrieved (s35431622:T>C), metaphasis II oocytes (rs35431622:T>C), and embryos (rs1132506:G>C). Additionally, variants in the GNRHR UTR3' (rs1038426:C>A, rs12508464:A>C, rs13150734:C>A, rs17635850:A>G, rs35683646:G>A, rs35610027:C>G, rs35845954:T>C, rs17635749:C>T, and rs7666201:C>T) were associated with low prolactin levels. A conjoint analysis of clinical, hormonal, and genetic variables using a generalized linear model identified two variants of the KISS1 gene (rs71745629delT and rs1132506:G>C) that were significantly associated with hormonal variations and reproductive outcomes. The findings suggest that variants in KISS1, KISS1R, and GNRHR genes can modulate hormone levels and reproductive outcomes.


Assuntos
Variação Genética , Hormônio Liberador de Gonadotropina/metabolismo , Kisspeptinas/genética , Receptores de Kisspeptina-1/genética , Receptores LHRH/genética , Reprodução/genética , Adulto , Feminino , Loci Gênicos/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Infertilidade/genética
3.
Artigo em Inglês | MEDLINE | ID: mdl-32231151

RESUMO

Physical education (PE) is identified with health, with PE teachers and school PE regarded as legitimate instruments for health promotion. The PE teacher's conceptions, attitudes, and values regarding the role of PE are inseparable from their performance. Thus, the objective of the present work is to verify concepts and attitudes of PE professionals and undergraduate students, in order to verify how they value their role in health promotion. This was a cross-sectional study that used surveys to assess attitudes and values of PE professionals and undergraduate students about their concepts of the role of PE in health promotion. A total of 942 PE professionals and undergraduate students regards themselves as players in health promotion (86.9%) despite no clear definition about the concept of health or the curriculum to attain such a goal, mainly based on academic training only. Also, they attribute the responsibility for childhood obesity and lack of motivation for the practice of physical activity to external factors, such as media (72.6%), family (84.7%), and technologies (83.1%). Despite participants regarding themselves as players in health promotion, there is a loose definition on how to promote health, and how to provide curriculum and strategies to meet the needs of public health.


Assuntos
Atitude , Promoção da Saúde , Educação Física e Treinamento , Adolescente , Adulto , Estudos Transversais , Currículo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Professores Escolares , Estudantes , Adulto Jovem
4.
DNA Cell Biol ; 37(6): 584-591, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29683332

RESUMO

Endometriosis is an estrogen-dependent inflammatory disease that affects a large number of women in reproductive age. Follicle-stimulating hormone (FSH) plays a role in steroidogenesis and acts through a transmembrane glycoprotein, FSH receptor (FSHR). Polymorphisms in FSHR gene were previously associated with variability in FSH serum level and reproductive outcomes, but its relation with endometriosis has not been clarified and demonstrated conflicting results, ranging from strong links to no association to endometriosis. Inspired by these findings, we aimed to investigate the influence of FSHR Ala307Thr and Asn680Ser polymorphisms in the risk of endometriosis development and/or progression and the status of fertility in 352 women with endometriosis and 510 fertile controls. Single-marker analysis revealed no significant difference for both Ala307Thr and Asn680Ser polymorphisms between overall endometriosis and control group. However, when the endometriosis group was subdivided according to fertility status and disease stage, a positive association was found between 680Ser/Ser or GG genotype of the Asn680Ser polymorphism and fertile women with endometriosis (p = 0.004). Combined alleles of FSHR polymorphisms revealed that "GG/307Ala680Ser" was more frequently found in fertile women with endometriosis (haplotype frequency of 45.4% in fertile women with endometriosis and 38.3% in controls, p = 0.041). The combined alleles of FSHR polymorphisms disclosed that "GG/307Ala680Ser" was more frequently found in fertile women with endometriosis (haplotype frequency of 45.4% in fertile women with endometriosis and 38.3% in controls, p = 0.049), while "GA/307Ala680Asn" haplotype was less frequently found in endometriosis group (haplotype frequency of 6.5% in cases and 11.9% in controls, p = < 0.001), regardless of fertility status and stage of the disease. The findings suggest that 680Ser-Ser/GG genotype and "GG/307Ala680Ser" haplotype increase the risk of endometriosis in fertile women, while "GA/307Ala680Asn" haplotype decreases the risk of endometriosis development and progression.


Assuntos
Endometriose/genética , Predisposição Genética para Doença/genética , Mutação de Sentido Incorreto , Polimorfismo Genético , Receptores do FSH/genética , Adulto , Alelos , Estudos de Casos e Controles , Endometriose/patologia , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Fatores de Risco
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