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1.
Front Med (Lausanne) ; 11: 1368502, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38745736

RESUMO

Water acknowledged as a vital component for life and the universal solvent, is crucial for diverse physiological processes in the human body. While essential for survival, the human body lacks the capacity to produce water, emphasizing the need for regular ingestion to maintain a homeostatic environment. The human body, predominantly composed of water, exhibits remarkable biochemical properties, playing a pivotal role in processes such as protein transport, thermoregulation, the cell cycle, and acid­base balance. This review delves into comprehending the molecular characteristics of water and its interactions within the human body. The article offers valuable insights into the intricate relationship between water and critical illness. Through a comprehensive exploration, it seeks to enhance our understanding of water's pivotal role in sustaining overall human health.

2.
Sci Rep ; 14(1): 955, 2024 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-38200041

RESUMO

Marine reserves (MRs) are implemented worldwide to protect, restore, and manage marine ecosystems and species. However, it is important to document the positive effects those marine reserves have on slow-growth, temperate invertebrates such as abalone. Abalone, Haliotis spp., are marine gastropods of high economic value extracted worldwide for decades, which has led to fisheries-driven population decreases. In this work, we focused on a case study and assessed the short-term (1-2 years) effects of marine reserves established and managed by a local fishing cooperative at Guadalupe Island, Mexico. We evaluated the population status of green abalone, H. fulgens, by conducting (1) an assessment of the green abalone population around Guadalupe Island through subtidal monitoring and (2) an evaluation of the effect of two recently established marine reserves on population parameters such as the increase in density (individuals·m2), biomass, number of aggregated abalone, egg production, and proportion of individuals bigger than 150 mm (minimum harvest size) compared to fished areas. To assess the population around Guadalupe Island, we surveyed 11,160 m2 during 2020 and 2021. We recorded 2327 green abalones with a mean ± SE shell length of 135.978 ± 0.83 mm and a mean density of 0.21 ± 0.02 individuals·m2. All variables were statistically higher at the MRs except for shell length in 2021. In this work, we report for the first time the green abalone population status at Guadalupe Island and a positive short-term biological response to community-based marine reserves. This study suggests that a network of MRs combined with good management could help abalone populations in the short term in Guadalupe Island, potentially leading to more sustainable fishing practices and social-ecological resilience.


Assuntos
Ecossistema , Gastrópodes , Humanos , Animais , Projetos de Pesquisa , Biomassa , Pesqueiros
3.
Cancers (Basel) ; 16(2)2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38254826

RESUMO

Eosinophils in peripheral blood account for 0.3-5% of leukocytes, which is equivalent to 0.05-0.5 × 109/L. A count above 0.5 × 109/L is considered to indicate eosinophilia, while a count equal to or above 1.5 × 109/L is defined as hypereosinophilia. In bone marrow aspirate, eosinophilia is considered when eosinophils make up more than 6% of the total nuclear cells. In daily clinical practice, the most common causes of reactive eosinophilia are non-hematologic, whether they are non-neoplastic (allergic diseases, drugs, infections, or immunological diseases) or neoplastic (solid tumors). Eosinophilia that is associated with a hematological malignancy may be reactive or secondary to the production of eosinophilopoietic cytokines, and this is mainly seen in lymphoid neoplasms (Hodgkin lymphoma, mature T-cell neoplasms, lymphocytic variant of hypereosinophilic syndrome, and B-acute lymphoblastic leukemia/lymphoma). Eosinophilia that is associated with a hematological malignancy may also be neoplastic or primary, derived from the malignant clone, usually in myeloid neoplasms or with its origin in stem cells (myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, acute myeloid leukemia with core binding factor translocations, mastocytosis, myeloproliferative neoplasms, myelodysplastic/myeloproliferative neoplasms, and myelodysplastic neoplasms). There are no concrete data in standardized cytological and cytometric procedures that could predict whether eosinophilia is reactive or clonal. The verification is usually indirect, based on the categorization of the accompanying hematologic malignancy. This review focuses on the broad differential diagnosis of hematological malignancies with eosinophilia.

4.
Life (Basel) ; 13(8)2023 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-37629567

RESUMO

OBJECTIVE: This systematic review analyzes the anatomical variants in the pancreas and its ductal system to report on their association with pancreatic pathologies. METHODS: We conducted a search of the MEDLINE, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS databases from their inception to July 2023. The methodological quality was assessed with the Anatomical Quality Assessment (AQUA) tool. Finally, the pooled prevalence was estimated using a random effects model. RESULTS: 55 studies were found that met the eligibility criteria. The overall prevalence of pancreas divisum (PD) was 18% (95% CI = 15-21%). The prevalence of PD associated with pancreatitis was 30% (95% CI = 1-61%). CONCLUSIONS: An anatomical variant of the pancreas such as PD may be the cause of bile duct obstruction, resulting in various clinical complications, such as pancreatitis. Hence, knowing this variant is extremely important for surgeons, especially for those who treat the gastroduodenal region.

5.
Rev. colomb. cir ; 38(3): 521-532, Mayo 8, 2023. fig, tab
Artigo em Espanhol | LILACS | ID: biblio-1438583

RESUMO

Introducción. El espacio extraperitoneal, se define como el segmento topográfico ubicado entre el peritoneo parietal internamente y la fascia transversalis externamente. Como resultado del desarrollo y consolidación de la cirugía laparoscópica, en particular de la herniorrafia inguinal por esta vía, se ha presentado un renovado y creciente interés en esta área anatómica, debido a la importancia de su conocimiento detallado en la cirugía de mínima invasión. Métodos. Se hizo una revisión narrativa de la literatura para presentar una información actualizada y detallada sobre la anatomía del espacio extraperitoneal y su importancia en diferentes procedimientos quirúrgicos realizados actualmente. Resultados. Por fuera del espacio peritoneal, se encuentran las áreas anatómicas externas al peritoneo parietal, que incluyen la preperitoneal y la retroperitoneal. Mediante la laparoscopia, se pueden localizar en estos espacios cinco triángulos anatómicos, además de la corona mortis y el triángulo supra vesical. Conclusión. El conocimiento del espacio extraperitoneal es de gran importancia para el cirujano general, teniendo en cuenta los múltiples procedimientos que requieren el abordaje de esta área topográfica


Introduction. The extraperitoneal space is defined as the topographic segment located between the parietal peritoneum internally and the fascia transversalis externally. As a result of the development and consolidation of laparoscopic surgery, particularly inguinal herniorrhaphy by this route, there has been a renewed and growing interest in this anatomical area, due to the importance of its detailed knowledge in minimally invasive surgery. Methods. A narrative review of the literature was made to present updated and detailed information on the anatomy of the extraperitoneal space and its importance in different surgical procedures currently performed. Results. Outside the peritoneal space are the anatomical areas external to the parietal peritoneum, including the preperitoneal and extraperitoneal. Using laparoscopy, five anatomical triangles, in addition to the corona mortis and the supravesical triangle, can be located in these spaces. Conclusion. Knowledge of the extraperitoneal space is of great importance for the general surgeon, taking into account the multiple procedures that require the approach of this topographic area


Assuntos
Humanos , Espaço Retroperitoneal , Hérnia Inguinal , Cavidade Peritoneal , Laparoscopia , Anatomia
6.
Medicine (Baltimore) ; 101(42): e31188, 2022 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-36281196

RESUMO

OBJECTIVES: Acute gastrointestinal injury (AGI) associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has a low incidence of complications in patients admitted to the intensive care unit (ICU). Pathophysiological knowledge related to AGI is limited, as few studies have been published on this topic. Therefore, this study was carried out to identify the clinical and histopathological features of patients with SARS-CoV-2 infection and grade IV AGI. METHODS: This is a retrospective case study of fifteen patients with SARS-CoV-2 infection and grade IV AGI who underwent emergency surgery. RESULTS: This study revealed a mortality rate of 62.5%. The most frequent gastrointestinal symptoms were abdominal distension (100%) and increased gastric residual volume (93.3%). Distended bowel loops on plain abdominal radiography (90%) and intestinal pneumatosis on computed tomography (50%) were the most frequent imaging findings. Surgical exploration revealed intestinal ischemia (66.6%) and necrosis (46.6%), and histopathology showed ischemic and liquefactive necrosis with mixed inflammatory involvement and absence of thrombosis as the cause of AGI. CONCLUSIONS: AGI associated with severe SARS-CoV-2 infection has a high mortality rate and poses a diagnostic challenge in the ICU. The complex pathophysiology and histopathological findings indicate an associated inflammatory phenomenon as the main alteration in the absence of thrombosis, as per the intestinal biopsies of the cases studied. Further clinical studies are required to gain a better understanding of this pathology.


Assuntos
Traumatismos Abdominais , COVID-19 , Trombose , Humanos , COVID-19/complicações , SARS-CoV-2 , Estudos Retrospectivos , Trombose/etiologia , Inflamação , Necrose
7.
Biomedicines ; 10(9)2022 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-36140338

RESUMO

Cell-to-cell communication is essential for proper embryonic development and its dysfunction may lead to disease. Recent research has drawn attention to a new group of molecules called connexins (Cxs) and pannexins (Panxs). Cxs have been described for more than forty years as pivotal regulators of embryogenesis; however, the exact mechanism by which they provide this regulation has not been clearly elucidated. Consequently, Cxs and Panxs have been linked to congenital neurodegenerative diseases such as Charcot-Marie-Tooth disease and, more recently, chronic hemichannel opening has been associated with adult neurodegenerative diseases (e.g., Alzheimer's disease). Cell-to-cell communication via gap junctions formed by hexameric assemblies of Cxs, known as connexons, is believed to be a crucial component in developmental regulation. As for Panxs, despite being topologically similar to Cxs, they predominantly seem to form channels connecting the cytoplasm to the extracellular space and, despite recent research into Panx1 (Pannexin 1) expression in different regions of the brain during the embryonic phase, it has been studied to a lesser degree. When it comes to the nervous system, Cxs and Panxs play an important role in early stages of neuronal development with a wide span of action ranging from cellular migration during early stages to neuronal differentiation and system circuitry formation. In this review, we describe the most recent available evidence regarding the molecular and structural aspects of Cx and Panx channels, their role in neurodevelopment, congenital and adult neurological diseases, and finally propose how pharmacological modulation of these channels could modify the pathogenesis of some diseases.

8.
Front Mol Neurosci ; 15: 868089, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35431800

RESUMO

Small heat shock protein 27 is a critically important chaperone, that plays a key role in several essential and varied physiological processes. These include thermotolerance, apoptosis, cytoskeletal dynamics, cell differentiation, protein folding, among others. Despite its relatively small size and intrinsically disordered termini, it forms large and polydisperse oligomers that are in equilibrium with dimers. This equilibrium is driven by transient interactions between the N-terminal region, the α-crystallin domain, and the C-terminal region. The continuous redistribution of binding partners results in a conformationally dynamic protein that allows it to adapt to different functions where substrate capture is required. However, the intrinsic disorder of the amino and carboxy terminal regions and subsequent conformational variability has made structural investigations challenging. Because heat shock protein 27 is critical for so many key cellular functions, it is not surprising that it also has been linked to human disease. Charcot-Marie-Tooth and distal hereditary motor neuropathy are examples of neurodegenerative disorders that arise from single point mutations in heat shock protein 27. The development of possible treatments, however, depends on our understanding of its normal function at the molecular level so we might be able to understand how mutations manifest as disease. This review will summarize recent reports describing investigations into the structurally elusive regions of Hsp27. Recent insights begin to provide the required context to explain the relationship between a mutation and the resulting loss or gain of function that leads to Charcot-Marie Tooth disease and distal hereditary motor neuropathy.

9.
J Hazard Mater ; 401: 123385, 2021 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-32763688

RESUMO

It is becoming more feasible to use nano-enabled agricultural products such as nanofertilizers and nanopesticides to improve the efficiency of agrochemical delivery to crop plants. Experimental results have shown that nano-agrochemicals have great potential for reducing the environmental impact of traditional agrochemicals while simultaneously significantly increasing crop production. However, emerging data suggest that nano-enabled products are not only capable of increasing yield, but also result in alterations in crop quality. Variation in proteins, sugars, starch content, as well as in metallic essential elements have been reported. Verbi gratia, albumin, globulin, and prolamin have been significantly increased in rice exposed to CeO2 engineered nanoparticles (ENPs), while CeO2, CuO, and ZnO ENPs have increased Ca, Mg, and P in several crops. Conversely, reductions in Mo and Ni have been reported in cucumber and kidney beans exposed to CeO2 and ZnO engineered nanomaterials, respectively. However, reports on specific effects in human health due to the consumption of agricultural products obtained from plants exposed to nano-agrochemicals are still missing.


Assuntos
Agricultura , Nanoestruturas , Agroquímicos , Produtos Agrícolas , Qualidade dos Alimentos , Humanos
10.
Front Mol Biosci ; 7: 159, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32766281

RESUMO

Several neurological disorders have been linked to mutations in chaperonin genes and more specifically to the HSPD1 gene. In humans, HSPD1 encodes the mitochondrial Heat Shock Protein 60 (mtHsp60) chaperonin, which carries out essential protein folding reactions that help maintain mitochondrial and cellular homeostasis. It functions as a macromolecular complex that provides client proteins an environment that favors proper folding in an ATP-dependent manner. It has been established that mtHsp60 plays a crucial role in the proper folding of mitochondrial proteins involved in ATP producing pathways. Recently, various single-point mutations in the mtHsp60 encoding gene have been directly linked to neuropathies and paraplegias. Individuals who harbor mtHsp60 mutations that negatively impact its folding ability display phenotypes with highly compromised muscle and neuron cells. Carriers of these mutations usually develop neuropathies and paraplegias at different stages of their lives mainly characterized by leg stiffness and weakness as well as degeneration of spinal cord nerves. These phenotypes are likely due to hindered energy producing pathways involved in cellular respiration resulting in ATP deprived cells. Although the complete protein folding mechanism of mtHsp60 is not well understood, recent work suggests that several of these mutations act by destabilizing the oligomeric stability of mtHsp60. Here, we discuss recent studies that highlight key aspects of the mtHsp60 mechanism with a focus on some of the known disease-causing point mutations, D29G and V98I, and their effect on the protein folding reaction cycle.

11.
Cancer Med ; 9(11): 3637-3646, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32216059

RESUMO

Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) are poor outcome leukemias. Its diagnosis is based on clinical, cytogenetic, and cytomorphologic criteria, last criterion being sometimes difficult to assess. A high frequency of ASXL1 mutations have been described in this leukemia. We sequenced ASXL1 gene mutations in 61 patients with AML-MRC and 46 controls with acute myeloid leukemia without other specifications (AML-NOS) to identify clinical, cytomorphologic, and cytogenetic characteristics associated with ASXL1 mutational status. Mutated ASXL1 (ASXL1+) was observed in 31% of patients with AML-MRC compared to 4.3% in AML-NOS. Its presence in AML-MRC was associated with older age, a previous history of myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasms (MDS/MPN), leukocytosis, presence of micromegakaryocytes in bone marrow, lower number of blasts in bone marrow, myelomonocytic/monocytic morphological features and normal karyotype. ASXL1 mutation was not observed in patients with myelodysplastic syndrome-related cytogenetic abnormalities or TP53 mutations. Differences in terms of overall survival were found only in AML-MRC patients without prior MDS or MDS/MPN and with intermediate-risk karyotype, having ASXL1+ patients a worst outcome than ASXL1-. We conclude that the ASXL1 mutation frequency is high in AML-MRC patients being its presence associated with specific characteristics including morphological signs of dysplasia. This association raises the possible role of ASXL1 as a surrogate marker in AML-MRC, which could facilitate the diagnosis of patients within this group when the karyotype is normal, and especially when the assessment of multilineage dysplasia morphologically is difficult. This mutation could be used as a worst outcome marker in de novo AML-MRC with intermediate-risk karyotype.


Assuntos
Biomarcadores Tumorais/genética , Medula Óssea/patologia , Aberrações Cromossômicas , Leucemia Mieloide Aguda/patologia , Mutação , Síndromes Mielodisplásicas/patologia , Proteínas Repressoras/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Medula Óssea/metabolismo , Estudos de Casos e Controles , Feminino , Seguimentos , Humanos , Cariótipo , Leucemia Mieloide Aguda/genética , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/genética , Prognóstico , Taxa de Sobrevida
13.
ACS Omega ; 4(4): 6560-6572, 2019 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-31459786

RESUMO

We report a facile method for the synthesis of zinc oxide nanoparticles (nZnOs) by rapidly heating a paste of zinc nitrate and sucrose on the hot plate at 500 °C. The transmission electron microscopy images revealed the spherical shape of the nZnO with an average size of 35 nm. The band gap and the specific surface area of the nZnO were measured to be about 3.32 eV and 80.11 m2/g, respectively. The nZnO was utilized for the photocatalytic degradation of methyl orange (MO) and methylene blue (MB) in water under the ultraviolet (UV-B) light and sunlight irradiation. Photocatalysis was performed in two types of water matrices, viz., the deionized water and the simulated fresh drinking water. Almost a complete degradation of MO and MB was obtained within 30 min of UV-B light irradiation. Under sunlight irradiation, more than 95% of the MO solution underwent degradation within 30 min. The photocatalytic stability of the nZnO was examined for five cycles, and a similar activity was found throughout the cycles. The photocatalytic generation of the hydroxyl radical (•OH) was confirmed by the terephthalic acid photoluminescence tests. Moreover, the synthesis methodology was validated by triplicating the nZnO synthesis. Every time, the nZnO demonstrated a similar photocatalytic activity, which confirmed the robustness of the synthesis procedure.

14.
Sci Rep ; 9(1): 12300, 2019 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-31444388

RESUMO

The human mitochondrial heat shock protein 60 (hsp60) is a tetradecameric chaperonin that folds proteins in the mitochondrial matrix. An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. Previous studies have suggested that these mutations impair the protein folding activity of hsp60 complexes but the detailed mechanism by which these mutations lead the neuromuscular diseases remains unknown. It is known, is that the ß-subunit of the human mitochondrial ATP synthase co-immunoprecipitates with hsp60 indicating that the ß-subunit is likely a substrate for the chaperonin. Therefore, we hypothesized that hsp60 mutations cause misfolding of proteins that are critical for aerobic respiration. Negative-stain electron microscopy and DLS results suggest that the D3G and V72I complexes fall apart when treated with ATP or ADP and are therefore unable to fold denatured substrates such as α-lactalbumin, malate dehydrogenase (MDH), and the ß-subunit of ATP synthase in in-vitro protein-folding assays. These data suggests that hsp60 plays a crucial role in folding important players in aerobic respiration such as the ß-subunit of the ATP synthase. The hsp60 mutations D3G and V72I impair its ability to fold mitochondrial substrates leading to abnormal ATP synthesis and the development of the MitCHAP-60 and SPG13 neuromuscular degenerative disorders.


Assuntos
Chaperonina 60/genética , ATPases Mitocondriais Próton-Translocadoras/química , ATPases Mitocondriais Próton-Translocadoras/metabolismo , Dobramento de Proteína , Subunidades Proteicas/química , Subunidades Proteicas/metabolismo , Paraplegia Espástica Hereditária/genética , Chaperonina 60/metabolismo , Difusão Dinâmica da Luz , Humanos , Lactalbumina/química , Lactalbumina/metabolismo , Malato Desidrogenase/química , Malato Desidrogenase/metabolismo , Modelos Moleculares , Proteínas Mutantes/química , Proteínas Mutantes/metabolismo , Mutação/genética , Doenças Neurodegenerativas , Especificidade por Substrato
17.
Front Mol Biosci ; 5: 42, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29755985

RESUMO

Chaperonins are macromolecular complexes found throughout all kingdoms of life that assist unfolded proteins reach a biologically active state. Historically, chaperonins have been classified into two groups based on sequence, subunit structure, and the requirement for a co-chaperonin. Here, we present a brief review of chaperonins that can form double- and single-ring conformational intermediates in their protein-folding catalytic pathway. To date, the bacteriophage encoded chaperonins ϕ-EL and OBP, human mitochondrial chaperonin and most recently, the bacterial groEL/ES systems, have been reported to form single-ring intermediates as part of their normal protein-folding activity. These double-ring chaperonins separate into single-ring intermediates that have the ability to independently fold a protein. We discuss the structural and functional features along with the biological relevance of single-ring intermediates in cellular protein folding. Of special interest are the ϕ-EL and OBP chaperonins which demonstrate features of both group I and II chaperonins in addition to their ability to function via single-ring intermediates.

18.
Rev. cienc. salud (Bogotá) ; 16(1): 10-26, ene.-abr. 2018.
Artigo em Inglês | LILACS, COLNAL | ID: biblio-959680

RESUMO

Abstract Introduction: Genetic counseling can be practiced under four scenarios: preconception, preimplantation, prenatal, and postnatal (which is similar to preconception). Some authors argue that it should be considered a form of eugenics. The aim of this article is to present different views expressed in the literature regarding the relation between genetic counseling and eugenics. Materials and methods: A search of articles was conducted in several academic databases using the MeSH/DeCS terms bioethics, medical genetics, genetic counseling, and eugenics. Articles were included if they discussed eugenics or genetic screening. Articles were excluded if they provided a technical description of procedures. The selection was made after examining titles, abstracts, and full texts. Results: Fifty-seven articles were selected for analysis. In preconception counseling, the "reproductive beneficence principle" can be based on eugenic practices of the early twentieth century. In pre-implantation consultation, the genetic selection of embryos can be considered eugenic when it is used to change the natural course of reproduction or used for non-medical purposes. Prenatal diagnosis, when linked to abortion as a response to congenital malformations, can be considered negative eugenics. Conclusion: At present, eugenics can be defined in multiple ways. By some definitions, genetic counseling can be framed as a eugenic practice. However, the design of health policies and the interests of society may influence the autonomy of individuals. The possibility of generating a genetic selection of individuals, on the other hand, can be constituted as positive eugenics.


Resumen Introducción: el asesoramiento genético es una práctica que puede enmarcarse en cuatro escenarios: preconcepcional, preimplantación, prenatal y posnatal (similar al preconcepcional). Para algunos autores este tipo de práctica se considera eugenesia. El objetivo del presente artículo es exponer los distintos puntos de vista, descritos en la literatura, sobre la relación del asesoramiento genético con la eugenesia. Materiales y métodos: se buscaron artículos en bases de datos académicas con los términos MeSH/DeCS bioética, genética médica, asesoramiento genético y eugenesia. Se incluyeron artículos que hablaran sobre eugenesia o sobre cribaje genético; se excluyeron artículos con la descripción técnica de procedimientos. La selección se realizó por título, resumen y texto completo. Resultados: se seleccionaron 57 artículos para el análisis. En el asesoramiento preconcepcional, el "principio de beneficencia procreativa" se considera que parte de posturas similares a las prácticas eugenésicas de principios del siglo XX. En la consulta preimplantación, la selección genética de embriones puede considerarse eugenesia cuando se usa para alterar el curso natural de la procreación o para fines no médicos. El diagnóstico prenatal, cuando se vincula con el aborto por malformaciones congénitas, puede considerarse eugenesia negativa. Conclusión: en la actualidad, la eugenesia abarca múltiples definiciones. Según la definición escogida, el asesoramiento genético puede enmarcarse como una práctica eugenésica. Sin embargo, el diseño de políticas de salud y el interés de la sociedad puede influir en la autonomía de los individuos. Por otro lado, la posibilidad de generar una selección genética de individuos puede constituirse como eugenesia positiva.


Resumo Introdução: a assessoria genética é uma prática que pode enquadrar-se em quatro cenários: pré-concepcional, pré-implantação, pré-natal e pós-natal (similar o pré-concepcional). Para alguns autores este tipo de prática considera-se eugenia. O objetivo do presente artigo é expor os distintos pontos de vista, descritos na literatura, sobre a relação da assessoria genética com a eugenia. Materiais e métodos: buscaram-se artigos em bases de dados acadêmicas com os termos eSH/DeCS bioética, genética médica, assessoria genética e eugenia. Incluíram-se artigos que falaram sobre eugenia ou sobre rastreio genético; excluíram-se artigos com a descrição técnica de procedimentos. A seleção se realizou por título, resumo e texto completo. Resultados: selecionaram-se 57 artigos para a análise. Na assessoria pré-concepcional, o "princípio d beneficência procriativa" se considera que parte de posturas similares às práticas eugénicas de começos do século XX. Na consulta pré-implantação, a seleção genética de embriões pode considerar-se eugenia quando se usa para alterar o curso natural da procriação ou para fins não médicos. O diagnóstico pré-natal, quando se vincula com o aborto por malformações congénitas, pode considerar-se eugenia negativa. Conclussão: na atualidade, a eugenia abarca múltiplas definições. Segundo a definição escolhida, a assessoria genética pode enquadrar-se como uma prática eugénica. No entanto, o desenho de políticas de saúde e o interesse da sociedade pode influir na autonomia dos indivíduos pode constituir-se como eugenia positiva.


Assuntos
Humanos , Eugenia (Ciência) , Bioética , Programas de Rastreamento , Aconselhamento Genético , Genética Médica
20.
Eur J Haematol ; 100(5): 436-443, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29384595

RESUMO

OBJECTIVE: MLL gene is involved in more than 80 known genetic fusions in acute leukemia. To study the relevance of MLL partner gene and selected gene's expression, in this work, we have studied a cohort of 20 MLL-rearranged acute myeloid leukemia (AML). METHODS: Twenty MLL-rearranged AML patients along with a control cohort of 138 AML patients are included in this work. By RT-PCR and sequencing, MLL genetic fusion was characterized, and relative gene expression quantification was carried out for EVI1, MEIS1, MLL-3', RUNX1, SETBP1, HOXA5, and FLT3 genes. Risk stratification and association of MLL genetic partner and gene expression to overall survival, in the context of received therapy, were performed. RESULTS: MLLr cohort showed to have an OS more similar to intermediate-risk AML. Type of MLL genetic partner showed to be relevant in allo-HSCT response; having MLLT1 and MLLT3, a better benefit from it. Expression of MLL-3' region, EVI1 and FLT3, showed association with OS in patients undergoing allo-HSCT. CONCLUSION: We show that the MLL genetic partner could have implications in allo-HSCT response, and we propose three genes whose expression could be useful for the prognosis of this leukemia in patients undergoing allo-HSCT: 3' region of MLL, EVI1, and FLT3.


Assuntos
Regiões 3' não Traduzidas , Biomarcadores Tumorais , Rearranjo Gênico , Histona-Lisina N-Metiltransferase/genética , Leucemia Mieloide Aguda/genética , Proteína de Leucina Linfoide-Mieloide/genética , RNA Mensageiro , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Regulação Neoplásica da Expressão Gênica , Transplante de Células-Tronco Hematopoéticas , Humanos , Hibridização in Situ Fluorescente , Lactente , Estimativa de Kaplan-Meier , Cariótipo , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/mortalidade , Leucemia Mieloide Aguda/terapia , Proteína do Locus do Complexo MDS1 e EVI1/genética , Masculino , Pessoa de Meia-Idade , Proteínas de Fusão Oncogênica/genética , Prognóstico , Modelos de Riscos Proporcionais , Translocação Genética , Transplante Homólogo , Resultado do Tratamento , Adulto Jovem , Tirosina Quinase 3 Semelhante a fms/genética
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