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  • 1
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    Online Resource
    Association between global leukocyte DNA methylation and cardiovascular risk in postmenopausal women
    Springer Science and Business Media LLC ; 2016
    In:  BMC Medical Genetics Vol. 17, No. 1 ( 2016-12)
    Details
    In: BMC Medical Genetics, Springer Science and Business Media LLC, Vol. 17, No. 1 ( 2016-12)
    Type of Medium: Online Resource
    ISSN: 1471-2350
    URL: Article
    DOI: 10.1186/s12881-016-0335-x
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2016
    detail.hit.zdb_id: 2041359-2
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  • 2
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    Polymorphisms of TCF7L2 gene in South Brazilian women with polycystic ovary syndrome: a cross-sectional study
    Oxford University Press (OUP) ; 2013
    In:  European Journal of Endocrinology Vol. 169, No. 5 ( 2013-11), p. 569-576
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 169, No. 5 ( 2013-11), p. 569-576
    Abstract: To assess whether TCF7L2 single nucleotide polymorphisms rs7903146 C/T and rs11196236 C/T are associated with polycystic ovary syndrome (PCOS) in South Brazilian women. Design Cross-sectional study. Methods Two hundred PCOS patients and 102 non-hirsute, ovulatory controls were genotyped by real-time PCR. Haplotypes were constructed from the combination of both polymorphisms. Frequencies were inferred using the PHASE 2.1.1 software. Results and conclusions The distribution of rs7903146 (PCOS, 54.4% CC; 28.5% CT; 17.1% TT; controls, 51.0% CC; 37.0% CT; 12.0% TT) and rs11196236 (PCOS, 4.3% CC; 33.5% CT; 62.2% TT; controls, 3.2% CC; 35.5% CT; 61.3% TT) was similar between the groups. rs7903146 and rs11196236 were not in linkage disequilibrium (| D ′|=0.34; r 2 =0.07). PCOS participants were younger, with higher age-adjusted BMI, waist circumference, blood pressure, triglycerides, insulin, homeostasis model assessment index to estimate insulin resistance and total testosterone, and lower HDL-C and sex hormone binding globulin vs controls. In PCOS, no differences between genotypes and haplotypes were found for clinical and metabolic variables. However, for each T (rs7903146) and T (rs11196236) allele added to the haplotypes, a variation of 5.87 cm in waist ( P trend=0.01), 10.7 mg/dl in total cholesterol ( P trend=0.03), and 10.3 mg/dl in LDL-C ( P trend=0.01) was recorded. TCF7L2 variants are probably not implicated in PCOS development in South Brazilian women.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-13-0105
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2013
    detail.hit.zdb_id: 1485160-X
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  • 3
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    SH2 domain‐containing protein tyrosine phosphatase‐2 is enriched in eyelid specimens of rosacea
    Wiley ; 2023
    In:  Skin Health and Disease Vol. 3, No. 1 ( 2023-02)
    Details
    In: Skin Health and Disease, Wiley, Vol. 3, No. 1 ( 2023-02)
    Abstract: Rosacea is a cutaneous disease that may secondarily affect the ocular surface. Due to the vision threatening, cosmetic, psychological, and work productivity impact, the identification of cellular targets that govern rosacea would enhance our understanding of the biology of the disease and delineate targets for therapeutic manipulation. Objective To characterize the involvement of SH2 domain‐containing protein tyrosine phosphatase‐2 (SHP2) in the pathogenesis of rosacea. Methods Specimens from elective ectropion surgery ( n  = 20) were processed from patients with rosacea ( n  = 10) and control patients ( n  = 10). Immunohistochemistry (IHC) and quantitative western blotting (WB) were performed to identify and quantify the presence of SHP2 and 4G10 (a phosphotyrosine antibody) in rosacea compared to normal tissue. IHC samples were graded according to an intensity scale (0–4). Mann‐Whitney statistical analyses were performed via a dedicated computerized software package. Results On WB, SHP2 was expressed in higher concentrations in rosacea specimens ( p   〈  0.05). On IHC, SHP2 was enriched in the epidermis in rosacea ( p   〈  0.05), although 4G10 levels were not statistically significantly different between the two groups ( p   〉  0.05). Conclusions SHP2 is enriched in cutaneous specimens of rosacea, suggesting a critical role for this protein in the disease and indicating a modifiable therapeutic moiety.
    Type of Medium: Online Resource
    ISSN: 2690-442X , 2690-442X
    URL: Issue
    URL: Article
    DOI: 10.1002/ski2.v3.1
    DOI: 10.1002/ski2.190
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 3056511-X
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  • 4
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    First-year students’ perceptions of team-based learning in a new medical genetics course
    FapUNIFESP (SciELO) ; 2019
    In:  Revista Brasileira de Educação Médica Vol. 43, No. 3 ( 2019-07), p. 170-177
    Details
    In: Revista Brasileira de Educação Médica, FapUNIFESP (SciELO), Vol. 43, No. 3 ( 2019-07), p. 170-177
    Abstract: RESUMO Introdução A educação médica evoluiu consideravelmente nos últimos anos, especialmente através da adoção de novas tecnologias e metodologias ativas. Essas metodologias visam melhorar a aprendizagem e envolver os alunos profundamente no processo. O TBL é uma metodologia amplamente utilizada em escolas de saúde, incluindo escolas médicas. Podemos usá-lo para trabalhar com grandes grupos, divididos em pequenas equipes. Primeiro, os alunos trabalham individualmente, depois dentro das equipes e, finalmente, os grupos cooperam para resolver os problemas aplicados. Objetivos Descrever as percepções e a satisfação dos alunos em relação a um curso de Genética Médica organizado em blocos de assuntos em que utilizamos sessões de TBL com estudantes de medicina do primeiro ano. Métodos Um curso de Genética Médica foi organizado em blocos de assuntos em que uma sessão de TBL foi realizada em cada um desses blocos para melhorar o processo de aprendizagem. No final do curso, os alunos responderam a um questionário sobre satisfação e percepções. Resultados Pela primeira vez nós descrevemos um curso de Genética Médica organizado em 5 blocos de assuntos, compreendendo 25 doenças genéticas, nos quais, uma sessão de TBL foi conduzida em cada um desses blocos. Participaram um total de 290 alunos, dos quais 96% estavam satisfeitos com o método de TBL. Além disso, 97% dos estudantes acreditam que o TBL os ajudou a aprender, e 87% aprovaram o uso do TBL no futuro, em outras etapas de seu curso de medicina. Conclusão A aplicação do método TBL durante um curso de genética médica foi bem recebida pelos estudantes e se mostrou uma ferramenta importante na estruturação curricular para a educação médica nesta universidade.
    Type of Medium: Online Resource
    ISSN: 1981-5271 , 0100-5502
    URL: Article
    DOI: 10.1590/1981-52712015v43n3rb20180256
    Language: English
    Publisher: FapUNIFESP (SciELO)
    Publication Date: 2019
    detail.hit.zdb_id: 2209937-2
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  • 5
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    Two approaches reveal a new paradigm of ‘switchable or genetics-influenced allele-specific DNA methylation’ with potential in human disease
    Springer Science and Business Media LLC ; 2017
    In:  Cell Discovery Vol. 3, No. 1 ( 2017-11-14)
    Details
    In: Cell Discovery, Springer Science and Business Media LLC, Vol. 3, No. 1 ( 2017-11-14)
    Abstract: Imprinted genes are vulnerable to environmental influences during early embryonic development, thereby contributing to the onset of disease in adulthood. Monoallelic methylation at several germline imprints has been reported as DNMT1-dependent. However, which of these two epigenetic attributes, DNMT1-dependence or allelic methylation, renders imprinted genes susceptible to environmental stressors has not been determined. Herein, we developed a new approach, referred to as NORED, to identify 2468 DNMT1-dependent DNA methylation patterns in the mouse genome. We further developed an algorithm based on a genetic variation-independent approach (referred to as MethylMosaic) to detect 2487 regions with bimodal methylation patterns. Two approaches identified 207 regions, including known imprinted germline allele-specific methylation patterns (ASMs), that were both NORED and MethylMosaic regions. Examination of methylation in four independent mouse embryonic stem cell lines shows that two regions identified by both NORED and MethylMosaic ( Hcn2 and Park7 ) did not display parent-of-origin-dependent allelic methylation. In these four F1 hybrid cell lines, genetic variation in Cast allele at Hcn2 locus introduces a transcription factor binding site for MTF-1 that may predispose Cast allelic hypomethylation in a reciprocal cross with either C57 or 129 strains. In contrast, each allele of Hcn2 ASM in J1 inbred cell line and Park7 ASM in four F1 hybrid cell lines seems to exhibit similar propensity to be either hypo- or hypermethylated, suggesting a ‘random, switchable’ ASM. Together with published results, our data on ASMs prompted us to propose a hypothesis of regional ‘autosomal chromosome inactivation (ACI)’ that may control a subset of autosomal genes. Therefore, our results open a new avenue to understand monoallelic methylation and provide a rich resource of candidate genes to examine in environmental and nutritional exposure models.
    Type of Medium: Online Resource
    ISSN: 2056-5968
    URL: Article
    DOI: 10.1038/celldisc.2017.38
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2017
    detail.hit.zdb_id: 2842548-0
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  • 6
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    Feeding methods for children with cleft lip and/or palate: a systematic review
    Elsevier BV ; 2016
    In:  Brazilian Journal of Otorhinolaryngology Vol. 82, No. 5 ( 2016-09), p. 602-609
    Details
    In: Brazilian Journal of Otorhinolaryngology, Elsevier BV, Vol. 82, No. 5 ( 2016-09), p. 602-609
    Type of Medium: Online Resource
    ISSN: 1808-8694
    URL: Article
    DOI: 10.1016/j.bjorl.2015.10.020
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2016
    detail.hit.zdb_id: 2105179-3
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  • 7
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    SUN-013 Cardiometabolic Profile of Brazilian Women with Polycystic Ovary Syndrome (PCOS): A Systematic Review and Meta-Analysis
    The Endocrine Society ; 2020
    In:  Journal of the Endocrine Society Vol. 4, No. Supplement_1 ( 2020-05-08)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 4, No. Supplement_1 ( 2020-05-08)
    Abstract: Introduction. PCOS is a frequent endocrine disease and its clinical expression may be influenced by ethnicity and sociocultural backgrounds. Despite its high prevalence, few studies are available regarding clinical characteristics of Brazilian women with PCOS. The aim of this study was to summarize the available evidence regarding metabolic risks in PCOS population in Brazil trough a systematic review and meta-analysis. Materials and Methods. We systematically searched EMBASE, MEDLINE, Cochrane Central Register of Controlled Trials for studies published until July 31, 2019. Results. Eleven cross-sectional and case-control studies were selected for the present meta-analysis, including 898 women diagnosed with PCOS and 2176 controls. All used the Rotterdam criteria for the diagnosis of PCOS. Compared to controls, BMI was higher in PCOS [standardized mean difference (SMD) 0.67 (95% CI 0.29, 1.05) I²=91%], as well as waist circumference [SMD 0.88 (0.40, 1.37) I²=93%] . Systolic and diastolic blood pressure were higher in PCOS, SMD 0.66 (0.30, 1.01) I²=83%, SMD 0.55 (0.24, 0.87) I²=81%, respectively. Glucose and HOMA-IR were higher in PCOS, SMD 0.22 (0.02, 0.41) I²= 57%, SMD 0.78 (0.52, 1.04) I² =26% respectively. Regarding lipid profile, PCOS had higher values for triglyceride [SMD= 0.39 (0.14, 0.64, I² =63%)], total cholesterol [SMD 0.36 (0.15, 0.57, I²=57%)] and LDL [SMD 0.44 (0.11, 0.78, I²=82%)] and lower values for HDL [SMD -0.56 (-0.78, -0.34) I²=68%] . Conclusions. Even though the studies considered were observational, including mostly small samples, the evidence from this meta-analysis indicates women with PCOS from different regions of Brazil present worse cardiometabolic profile than women without PCOS. This systematic review and meta-analysis is registered in PROSPERO (CRD42016038537).
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvaa046.1338
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2020
    detail.hit.zdb_id: 2881023-5
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  • 8
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    Association between rs7903146 and rs12255372 polymorphisms of transcription factor 7-like 2 gene and polycystic ovary syndrome: a systematic review and meta-analysis
    Springer Science and Business Media LLC ; 2015
    In:  Endocrine Vol. 49, No. 3 ( 2015-8), p. 635-642
    Details
    In: Endocrine, Springer Science and Business Media LLC, Vol. 49, No. 3 ( 2015-8), p. 635-642
    Type of Medium: Online Resource
    ISSN: 1355-008X , 1559-0100
    URL: Article
    DOI: 10.1007/s12020-015-0541-x
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2015
    detail.hit.zdb_id: 2074043-8
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  • 9
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    RF34 | PMON276 The Effect of Gender Affirming Hormone Therapy (GAHT) on Non-Conventional Cardiovascular Risk Markers in Transgender Men: A Systematic Review
    The Endocrine Society ; 2022
    In:  Journal of the Endocrine Society Vol. 6, No. Supplement_1 ( 2022-11-01), p. A717-A718
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 6, No. Supplement_1 ( 2022-11-01), p. A717-A718
    Abstract: The process of gender transitioning includes the employment of gender-affirming hormone therapy (GAHT) to attenuate gender dysphoria. Although considered relatively safe, there is still debate whether GAHT may increase the risk of cardiovascular disease (CVD) in transgender men (TM). Non-conventional subclinical cardiovascular (CV) risk markers, such as inflammation or coagulation markers, endothelial activity-related substances, and the use of ultrasound-assisted vascular function evaluation, may improve CV risk prediction in specific populations. Therefore, we conducted a systematic review to summarize the available findings regarding GAHT and its effects on these non-conventional cardiovascular risk markers in TM. Medline, LILACS, SCOPUS, and Embase databases were searched for cross-sectional, case-control, cohort, or randomized clinical trial studies published until July 2020. The selection criteria for the studies were as follows: ≥ 18 years old transgender male, no established CVD, using GAHT (androgens) for at least 2 months and compared with cis women or untreated transmen or before and during/after treatment for cohort studies. From 152 studies initially identified, 7 studies (3 cohorts and 4 case-control) were included in the systematic review. Some of these studies assessed different CV risk markers in the same group of participants. No changes were found in t-PA PAI-1, ICAMs, and PCR-us after 4 and 12 months of GAHT. Fibrinogen did not differ either in TM with or with no GAHT. Three studies evaluated flow-mediated-vasodilation (FMD) of the brachial artery. The only cohort study found no changes in FMD after 12 months of GAHT. One case-control study observed significant impaired FMD, and another one showed impaired FMD- after-nitroglycerin in transmen compared with cis women. One study reported increased homocysteine and higher carotid intima-media thickness (C-MIT) after 12 months of hormone use. Further, one study observed testosterone did not affect distensibility (DC) or compliance (CC) coefficient after 12 months, but the changes in fasting insulin levels were negatively associated with changes in the CC and DC. One study assessed the vascular function using brachial-ankle pulse wave velocity (baPWV) and observed a higher risk in TM with GAHT versus the untreated group. The results of the present systematic review suggest that GAHT may be associated with worse subclinical cardiovascular markers in TM. Further studies assessing long-term clinical follow-up of transgender men using GAHT could positively impact the prevention of CVD and management strategies for this population. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m., Monday, June 13, 2022 1:00 p.m. - 1:05 p.m.
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvac150.1478
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2022
    detail.hit.zdb_id: 2881023-5
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  • 10
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    Variations in the fat mass and obesity–associated (FTO) gene are related to glucose levels and higher lipid accumulation product in postmenopausal women from southern Brazil
    Elsevier BV ; 2011
    In:  Fertility and Sterility Vol. 96, No. 4 ( 2011-10), p. 974-979
    Details
    In: Fertility and Sterility, Elsevier BV, Vol. 96, No. 4 ( 2011-10), p. 974-979
    Type of Medium: Online Resource
    ISSN: 0015-0282
    URL: Article
    DOI: 10.1016/j.fertnstert.2011.07.1148
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2011
    detail.hit.zdb_id: 1500469-7
    SSG: 12
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