Author
Bruna Cunha Santos
Bio: Bruna Cunha Santos is an academic researcher from Universidade Estadual de Maringá. The author has contributed to research in topics: Haplotype & Population. The author has an hindex of 2, co-authored 2 publications receiving 44 citations.
Papers
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TL;DR: The JAK2 46/1 haplotype, represented in this study by the presence of the G allele, is an important predisposing factor in the oncogenetic development of these neoplasms in the studied population.
41 citations
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TL;DR: This study aimed to verify the association between the JAK2 46/1 haplotype (V617F positive) and some hematological parameters in BCR‐ABL‐negative chronic myeloproliferative neoplasms (cMPNs) in the authors' population.
Abstract: SUMMARY Introduction: This study aimed to verify the association between the JAK2 46/1 haplotype (V617F positive) and some hematological parameters in BCR-ABL-negative chronic myeloproliferative neo- plasms (cMPNs) in our population. Methods: The blood samples obtained from the patients with cMPN were genotyped for the JAK2 V617F mutation and JAK2 rs10974944 SNP screening using a PCR-RFLP assay. Results: The JAK2 V617F mutation was detected in 80.15% of patients. The G variant of rs10974944 was more frequent in all MPNs, especially those that were JAK2 V617F positive, than in the control population. We also compared the 46/1 haplotype status in each MPN disease entity, polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), and MPNu with controls. The G allele frequency relative to con- trols was significantly enriched in patients with PV and ET, but not in those with PMF and MPNu. PV and ET patients espe- cially, all of whom had the JAK2 V617F mutation, showed signif- icant excess of the G allele. The frequency of JAK2 V617F mutation was associated with elevated hematological parameters, but when we analyze the occurrence of the mutation and the presence of the G allele, just the high hemoglobin was signifi- cantly. Conclusion: In agreement with previous reports, JAK2 46/1 haplotype for JAK2 V617F was associated with cMPN positive in Brazilian patients.
8 citations
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TL;DR: Three basic types of paternal effect are distinguished and key questions that can serve as a road map for research on the proximate basis and evolutionary implications of paternal effects are outlined.
Abstract: Maternal effects are now universally recognised as a form of nongenetic parental influence on offspring but, until recently, paternal effects were regarded as an anomaly. Although it is now clear that paternal effects are both widespread and important, their proximate basis and evolutionary consequences have received little attention and remain poorly understood. In particular, because many paternal effects are mediated by maternal responses such as differential allocation, the boundary between paternal and maternal effects is sometimes blurred. We distinguish here three basic types of paternal effect and clarify the role of maternal responses in these effects. We also outline key questions that can serve as a road map for research on the proximate basis and evolutionary implications of paternal effects.
175 citations
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TL;DR: Existing evidence does not support ICSI in preference over in vitro fertilization (IVF) in the general non-male factor ART population; however, in couples with unexplained infertility, I CSI is associated with lower fertilization failure rates than IVF.
Abstract: Intracytoplasmic sperm injection (ICSI) has become the most commonly used method of fertilization in assisted reproductive technology. The primary reasons for its popularity stem from its effectiveness, the standardization of the procedure, which means that it can easily be incorporated into the routine practice of fertility centres worldwide, and the fact that it can be used to treat virtually all forms of infertility. ICSI is the clear method of choice for overcoming untreatable severe male factor infertility, but its (over)use in other male and non-male factor infertility scenarios is not evidence-based. Despite all efforts to increase ICSI efficacy and safety through the application of advanced sperm retrieval and cryopreservation techniques, as well as methods for selecting sperm with better chromatin integrity, the overall pregnancy rates from infertile men remain suboptimal. Treating the underlying male infertility factor before ICSI seems to be a promising way to improve ICSI outcomes, but data remain limited. Information regarding the health of ICSI offspring has accumulated over the past 25 years, and there are reasons for concern as risks of congenital malformations, epigenetic disorders, chromosomal abnormalities, subfertility, cancer, delayed psychological and neurological development, and impaired cardiometabolic profile have been observed to be greater in infants born as a result of ICSI than in naturally conceived children. However, as subfertility probably influences the risk estimates, it remains to be determined to what extent the observed adverse outcomes are related to parental factors or associated with ICSI.
131 citations
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TL;DR: It is proposed that careful assessment of spermatozoal parameters is essential to achieve embryo development and a healthy live birth and the need for more research and the development of standardized protocols to assess the role of sperm factors affecting embryo quality.
Abstract: Advancing maternal and paternal age leads to a decrease in fertility, and hence, many infertile couples opt for assisted reproductive technologies [ART] to achieve biological parenthood. One of the key determinants of achieving a live outcome of ART, embryo quality, depends on both the quality of the oocyte and sperm that have created the embryo. Several studies have explored the effect of oocyte parameters on embryo quality, but the effects of sperm quality on the embryo have not been comprehensively evaluated. In this review, we assess the effect of various genetic factors of paternal origin on the quality and development of the embryo. The effects of sperm aneuploidy, sperm chromatin structure, deoxyribonucleic acid [DNA] fragmentation, role of protamines and histones, sperm epigenetic profile, and Y chromosome microdeletions were explored and found to negatively affect embryo quality. We propose that careful assessment of spermatozoal parameters is essential to achieve embryo development and a healthy live birth. However, the heterogeneity in test results and the different approaches of assessing a single sperm parameter highlight the need for more research and the development of standardized protocols to assess the role of sperm factors affecting embryo quality.
86 citations
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TL;DR: Level of JAK2V617F mutation burden was associated with myeloproliferative neoplasm progression rate, consistent with a biological continuum of increasing JAK 2V617f mutation burden across increasing severity of myeloplasm from no disease to primary myelofibrosis.
Abstract: Clinical significance of the JAK2V617F mutation in patients with a myeloproliferative neoplasm has been the target of intensive research in recent years. However, there is considerably uncertainty about prognosis in JAK2V617F positive individuals without overt signs of myeloproliferative disease. In this study, we tested the hypothesis that increased JAK2V617F somatic mutation burden is associated with myeloproliferative neoplasm progression rate in the general population. Among 49,488 individuals from the Copenhagen General Population Study, 63 (0.1%) tested positive for the JAK2V617F mutation in the time period 2003-2008. Of these, 48 were available for re-examination in 2012. Level of JAK2V617F mutation burden was associated with myeloproliferative neoplasm progression rate, consistent with a biological continuum of increasing JAK2V617F mutation burden across increasing severity of myeloproliferative neoplasm from no disease (n=8 at re-examination) through essential thrombocythemia (n=20) and polycythemia vera (n=13) to primary myelofibrosis (n=7). Among those diagnosed with a myeloproliferative neoplasm only at re-examination in 2012, in the preceding years JAK2V617F mutation burden increased by 0.55% per year, erythrocyte volume fraction increased by 1.19% per year, and erythrocyte mean corpuscular volume increased by 1.25% per year, while there was no change in platelet count or erythropoietin levels. Furthermore, we established a JAK2V617F mutation burden cut-off point of 2% indicative of disease versus no disease; however, individuals with a mutation burden below 2% may suffer from a latent form of myeloproliferative disease revealed by a slightly larger spleen and/or slightly higher lactic acid dehydrogenase concentration compared to controls. Of all 63 JAK2V617F positive individuals, 48 were eventually diagnosed with a myeloproliferative neoplasm.
75 citations
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TL;DR: A comprehensive review of the epidemiological literature and an analysis of the most recent the Surveillance, Epidemiology, and End Results (SEER) program data through 2016 shows that patients with PV or ET have better survival than PMF patients.
57 citations