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2.
Am J Kidney Dis ; 2024 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-38537905

RESUMO

RATIONALE & OBJECTIVE: ß2-microglobulin (B2M), and ß-trace-protein (BTP) are novel endogenous filtration markers that may improve the accuracy of estimated glomerular filtration rate (eGFR) beyond creatinine and cystatin C (eGFRcr-cys), but they have not been assessed in patients with cancer. STUDY DESIGN: Cross-sectional analysis. SETTING & PARTICIPANTS: Prospective cohort of 1,200 patients with active solid tumors recruited between April 2015 and September 2017. EXPOSURE: CKD-EPI equations without race combining B2M and/or BTP with creatinine with or without cystatin C (2-, 3- or 4-marker panel eGFR). OUTCOMES: Performance of equations compared to eGFRcr-cys. Non-GFR determinants of serum B2M and BTP (SB2M, and SBTP, respectively). mGFR was determined using the plasma clearance of 51Cr-EDTA. ANALYTICAL APPROACH: Bias was defined as the median of the differences between mGFR and eGFR. 1-P30 was defined as the percentage of estimates that differed by more than 30% from the mGFR (1-P30). Linear regression was used to assess association of clinical and laboratory variables with SB2M, and SBTP after adjustment for mGFR. RESULTS: Mean (SD) age and mGFR were 58.8 (13.2) years and 78.4 (21.7) ml/min/1.73 m2, respectively. Performance of the 3-marker and 4-marker panel equations was better than eGFRcr-cys (lesser bias and 1-P30). Performance of 2-marker panel equations was as good as eGFRcr-cys (lesser bias and similar 1-P30). SB2M and SBTP were not strongly influenced by cancer site. LIMITATIONS: Participants may have had better clinical performance status than the general population of patients with solid tumors. CONCLUSIONS: B2M and BTP can improve the accuracy of eGFR and may be useful as confirmatory tests in patients with solid tumors, either by inclusion in multi-marker panel equation with creatinine and cystatin C, or by substituting for cystatin C in combination with creatinine.

3.
J Exp Bot ; 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38531677

RESUMO

All non-mimosoid nodulated genera in the legume subfamily Caesalpinioideae confine their rhizobial symbionts within cell wall-bound "fixation threads" (FTs). The exception is the large genus Chamaecrista in which shrubs and subshrubs house their rhizobial bacteroids more intimately within symbiosomes, whereas large trees have FTs. This study aimed to unravel the evolutionary relationships between Chamaecrista growth habit, habitat, nodule bacteroid type, and rhizobial genotype. The growth habit, bacteroid anatomy, and rhizobial symbionts of 30 nodulated Chamaecrista species native to different biomes in the Brazilian state of Bahia, a major centre of diversity for the genus, was plotted onto an ITS-TrnL-F-derived phylogeny of Chamaecrista. The bacteroids from most of the Chamaecrista species examined were enclosed in symbiosomes (SYM-type nodules), but those in arborescent species in the section Apoucouita, at the base of the genus, were enclosed in cell wall material containing homogalacturonan (HG) and cellulose (FT-type nodules). Most symbionts were Bradyrhizobium genotypes grouped according to the growth habits of their hosts, but the tree, C. eitenorum, was nodulated by Paraburkholderia. Chamaecrista has a range of growth habits that allow it to occupy several different biomes and to co-evolve with a wide range of (mainly) bradyrhizobial symbionts. FTs represent a less intimate symbiosis linked with nodulation losses, so the evolution of SYM-type nodules by most Chamaecrista species may have (a) aided the genus-wide retention of nodulation, and (b) assisted in its rapid speciation and radiation out of the rainforest into more diverse and challenging habitats.

4.
Int J Mol Sci ; 25(4)2024 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-38396750

RESUMO

Acute-on-chronic liver failure (ACLF) is a syndrome marked by sudden liver function decline and multiorgan failure, predominantly acute kidney injury (AKY), in patients with chronic liver disease. Unregulated inflammation is a hallmark of ACLF; however, the key drivers of ACLF are not fully understood. This study explores the therapeutic properties of human mesenchymal stem cell (MSC) secretome, particularly focusing on its enhanced anti-inflammatory and pro-regenerative properties after the in vitro preconditioning of the cells. We evaluated the efficacy of the systemic administration of MSC secretome in preventing liver failure and AKI in a rat ACLF model where chronic liver disease was induced using by the administration of porcine serum, followed by D-galN/LPS administration to induce acute failure. After ACLF induction, animals were treated with saline (ACLF group) or MSC-derived secretome (ACLF-secretome group). The study revealed that MSC-secretome administration strongly reduced liver histological damage in the ACLF group, which was correlated with higher hepatocyte proliferation, increased hepatic and systemic anti-inflammatory molecule levels, and reduced neutrophil and macrophage infiltration. Additionally, renal examination revealed that MSC-secretome treatment mitigated tubular injuries, reduced apoptosis, and downregulated injury markers. These improvements were linked to increased survival rates in the ACLF-secretome group, endorsing MSC secretomes as a promising therapy for multiorgan failure in ACLF.


Assuntos
Insuficiência Hepática Crônica Agudizada , Humanos , Ratos , Animais , Suínos , Insuficiência Hepática Crônica Agudizada/terapia , Secretoma , Células-Tronco , Anti-Inflamatórios
5.
Kidney Int ; 105(3): 582-592, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38006943

RESUMO

Creatinine and cystatin-C are recommended for estimating glomerular filtration rate (eGFR) but accuracy is suboptimal. Here, using untargeted metabolomics data, we sought to identify candidate filtration markers for a new targeted assay using a novel approach based on their maximal joint association with measured GFR (mGFR) and with flexibility to consider their biological properties. We analyzed metabolites measured in seven diverse studies encompasing 2,851 participants on the Metabolon H4 platform that had Pearson correlations with log mGFR and used a stepwise approach to develop models to < -0.5 estimate mGFR with and without inclusion of creatinine that enabled selection of candidate markers. In total, 456 identified metabolites were present in all studies, and 36 had correlations with mGFR < -0.5. A total of 2,225 models were developed that included these metabolites; all with lower root mean square errors and smaller coefficients for demographic variables compared to estimates using untargeted creatinine. Seventeen metabolites were chosen, including 12 new candidate filtration markers. The selected metabolites had strong associations with mGFR and little dependence on demographic factors. Candidate metabolites were identified with maximal joint association with mGFR and minimal dependence on demographic variables across many varied clinical settings. These metabolites are excreted in urine and represent diverse metabolic pathways and tubular handling. Thus, our data can be used to select metabolites for a multi-analyte eGFR determination assay using mass spectrometry that potentially offers better accuracy and is less prone to non-GFR determinants than the current eGFR biomarkers.


Assuntos
Metabolômica , Insuficiência Renal Crônica , Humanos , Taxa de Filtração Glomerular , Creatinina , Biomarcadores
6.
Front Med (Lausanne) ; 10: 1258395, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37964883

RESUMO

Background and aims: Latin American populations remain underrepresented in genetic studies of inflammatory bowel diseases (IBDs). Most genetic association studies of IBD rely on Caucasian, African, and Asian individuals. These associations have yet to be evaluated in detail in the Andean region of South America. We explored the contribution of IBD-reported genetic risk variants to a Chilean cohort and the ancestry contribution to IBD in this cohort. Methods: A total of 192 Chilean IBD patients were genotyped using Illumina's Global Screening Array. Genotype data were combined with similar information from 3,147 Chilean controls. The proportions of Aymara, African, European, and Mapuche ancestries were estimated using the software ADMIXTURE. We calculated the odds ratios (ORs) and 95% confidence intervals (CIs) for gender, age, and ancestry proportions. We also explored associations with previously reported IBD-risk variants independently and in conjunction with genetic ancestry. Results: The first and third quartiles of the proportion of Mapuche ancestry in IBD patients were 24.7 and 34.2%, respectively, and the corresponding OR was 2.30 (95%CI 1.52-3.48) for the lowest vs. the highest group. Only one variant (rs7210086) of the 180 reported IBD-risk SNPs was associated with IBD risk in the Chilean cohort (adjusted P = 0.01). This variant is related to myeloid cells. Conclusion: The type and proportion of Native American ancestry in Chileans seem to be associated with IBD risk. Variants associated with IBD risk in this Andean region were related to myeloid cells and the innate immune response.

7.
Future Virol ; 18(13): 865-880, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37974899

RESUMO

Aim: This work aimed to investigate the antiviral activity of two 1,4-disubstituted-1,2,3-triazole derivatives (1 and 2) against Chikungunya virus (CHIKV) replication. Materials & methods: Cytotoxicity was analyzed using colorimetric assays and the antiviral potential was evaluated using plaque assays and computational tools. Results: Compound 2 showed antiviral activity against CHIKV 181-25 in BHK-21 and Vero cells. Also, this compound presented a higher activity against CHIKV BRA/RJ/18 in Vero cells, like compound 1. Compound 2 exhibited virucidal activity and inhibited virus entry while compound 1 inhibited virus release. Molecular docking suggested that these derivatives inhibit nsP1 protein while compound 1 may also target capsid protein. Conclusion: Both compounds exhibit promising antiviral activity against CHIKV by blocking different steps of virus replication.

8.
Int J Mol Sci ; 24(19)2023 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-37834314

RESUMO

Lactose intolerance (LI) and vitamin D deficiency (VDD) have been linked to inflammatory bowel disease (IBD). We conducted an observational study in 192 Chilean IBD patients to investigate the prevalence of a specific gene variant (LCT-13910 CC genotype) associated with LI and the prevalence of VDD/Vitamin D Receptor (VDR) gene variants. Blood samples were analyzed using Illumina's Infinium Global Screening Array. The LCT-13910 CC genotype was found in 61% of IBD patients, similar to Chilean Hispanic controls and lower than Chilean Amerindian controls. The frequency of the LCT-13910-C allele in Chilean IBD patients (0.79) was comparable to the general population and higher than Europeans (0.49). Regarding VDR and VDD variants, in our study, the rs12785878-GG variant was associated with an increased risk of IBD (OR = 2.64, CI = 1.61-4.32; p-value = 0.001). Sixty-one percent of the Chilean IBD cohort have a genetic predisposition to lactose malabsorption, and a significant proportion exhibit genetic variants associated with VDD/VDR. Screening for LI and VDD is crucial in this Latin American IBD population.


Assuntos
Doenças Inflamatórias Intestinais , Lactose , Receptores de Calcitriol , Humanos , Chile/epidemiologia , Predisposição Genética para Doença , Genótipo , Doenças Inflamatórias Intestinais/epidemiologia , Doenças Inflamatórias Intestinais/genética , Doenças Inflamatórias Intestinais/complicações , Lactose/deficiência , Polimorfismo de Nucleotídeo Único , Prevalência , Receptores de Calcitriol/genética , Vitamina D , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/epidemiologia , Deficiência de Vitamina D/genética
10.
Coimbra; s.n; jun. 2023. 100 p. tab., ilus..
Tese em Português | BDENF - Enfermagem | ID: biblio-1531711

RESUMO

A segurança do doente tem vindo a tornar-se uma preocupação crescente nas organizações de saúde, especialmente desde que a Organização Mundial da Saúde (OMS) reconheceu, em 2009, a segurança cirúrgica como o "Segundo Desafio Global para a Segurança do Doente" no âmbito do programa "Cirurgia Segura, Salva Vidas". Esta ação da OMS aumentou a consciencialização e impulsionou os esforços para melhorar a segurança durante os procedimentos cirúrgicos. Como parte desses esforços, a implementação da Lista de Verificação de Segurança Cirúrgica (LVSC) foi estabelecida como uma estratégia fundamental para garantir que os procedimentos sejam realizados de forma mais segura e prevenir a ocorrência de incidentes. O presente relatório de estágio tem como desígnio explanar o processo de aquisição e desenvolvimento de competências comuns e específicas do enfermeiro especialista em Enfermagem Médico-cirúrgica; e o de mapear a evidência científica existente referente aos fatores que influenciam a adesão à lista de verificação de segurança cirúrgica, através da realização de uma scoping review. Este documento está organizado em duas partes: 1) análise das competências adquiridas ao longo dos estágios, através de uma metodologia descritiva e critico- reflexiva; e 2) realização de uma scoping review, efetuada com base no método proposto pela Joanna Briggs Institute apresentada em formato de artigo científico. Através dos estágios realizados, fica evidente o papel fundamental do enfermeiro especialista em Enfermagem Médico-Cirúrgica na liderança de projetos de formação, assessoria e pesquisa, bem como no desenvolvimento e implementação de práticas baseadas nas evidências científicas mais recentes. A sinergia entre essas áreas potencializa a qualidade dos cuidados prestados e promove a melhoria contínua da prática, garantido a excelência da mesma. Os resultados da investigação efetuada, comprovam a existência de fatores que influenciam a adesão ao cumprimento da lista de verificação de segurança cirúrgica, nomeadamente fatores individuais, processuais e contextuais. Através da mesma destacam-se algumas estratégias para melhorar a adesão que se prendem essencialmente com a formação contínua e supervisão do desempenho dos membros da equipa cirúrgica no preenchimento da lista.


Assuntos
Procedimentos Cirúrgicos Operatórios , Segurança do Paciente , Enfermagem Médico-Cirúrgica , Enfermeiras Especialistas
12.
Cells ; 12(4)2023 02 16.
Artigo em Inglês | MEDLINE | ID: mdl-36831304

RESUMO

Drug-induced liver injury (DILI) is one of the leading causes of acute liver injury. While many factors may contribute to the susceptibility to DILI, obese patients with hepatic steatosis are particularly prone to suffer DILI. The secretome derived from mesenchymal stem cell has been shown to have hepatoprotective effects in diverse in vitro and in vivo models. In this study, we evaluate whether MSC secretome could improve DILI mediated by amiodarone (AMI) or tamoxifen (TMX). Hepatic HepG2 and HepaRG cells were incubated with AMI or TMX, alone or with the secretome of MSCs obtained from human adipose tissue. These studies demonstrate that coincubation of AMI or TMX with MSC secretome increases cell viability, prevents the activation of apoptosis pathways, and stimulates the expression of priming phase genes, leading to higher proliferation rates. As proof of concept, in a C57BL/6 mouse model of hepatic steatosis and chronic exposure to AMI, the MSC secretome was administered endovenously. In this study, liver injury was significantly attenuated, with a decrease in cell infiltration and stimulation of the regenerative response. The present results indicate that MSC secretome administration has the potential to be an adjunctive cell-free therapy to prevent liver failure derived from DILI caused by TMX or AMI.


Assuntos
Amiodarona , Doença Hepática Induzida por Substâncias e Drogas , Fígado Gorduroso , Células-Tronco Mesenquimais , Camundongos , Animais , Humanos , Tamoxifeno , Amiodarona/metabolismo , Secretoma , Camundongos Endogâmicos C57BL , Células-Tronco Mesenquimais/metabolismo , Fígado Gorduroso/metabolismo , Fatores Imunológicos/metabolismo , Doença Hepática Induzida por Substâncias e Drogas/metabolismo
13.
Rev Paul Pediatr ; 41: e2022004, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36700568

RESUMO

OBJECTIVE: To understand the experience of parents regarding prenatal diagnosis of orofacial cleft in their children. METHODS: Descriptive study with a qualitative approach, carried out in a Brazilian public tertiary hospital between January and March 2019. Parents who were accompanying their children during hospitalization for primary surgeries and who had received the diagnosis of malformation during pregnancy were included in this study. Data was collected through semi-structured interviews, which were audio-recorded and transcribed in full. To prepare the results, Content Analysis was used in the Thematic modality. RESULTS: The sample had 17 participants: 16 mothers and one father. From the speeches, three categories were unveiled: dealing with the unknown, assimilating the diagnosis, and positive and negative implications of prenatal diagnosis. CONCLUSIONS: We learned how complex and conflicting it was for parents to receive the diagnosis of malformation in their children, and that family and professional support was essential to the process of assimilation and coping. The findings point to the need for planning and implementing interventions, protocols and/or public policies aimed at assisting these parents in this period.


Assuntos
Fenda Labial , Fissura Palatina , Gravidez , Feminino , Criança , Humanos , Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Pais , Diagnóstico Pré-Natal , Mães
14.
Health Care Women Int ; 44(1): 46-60, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-34635029

RESUMO

We analyzed the European countries participation in clinical trials addressing to new drug development focused on rare diseases in women comparing to more prevalent diseases as breast cancer. Participation was not associated with type of healthcare system neither socio-economic features, but it was associated with population size. Protocol ratios focused on breast cancer vs. orphan drugs and rare diseases was 15:1 and 9:1, respectively, mainly focused on ovarian cancer. Protocol number was insufficient to evaluate the success of Regulation (EC) 141/2000, it is necessary to increase the scientific quality and the number of really new molecules.


Assuntos
Neoplasias da Mama , Doenças Raras , Adulto , Feminino , Humanos , Doenças Raras/tratamento farmacológico , Produção de Droga sem Interesse Comercial , Europa (Continente)/epidemiologia , Grupos Minoritários
15.
Microb Ecol ; 85(4): 1423-1433, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-35525854

RESUMO

Plants modulate the soil microbiota and select a specific microbial community in the rhizosphere. However, plant domestication reduces genetic diversity, changes plant physiology, and could have an impact on the associated microbiome assembly. Here, we used 16S rRNA gene sequencing to assess the microbial community in the bulk soil and rhizosphere of wild, semi-domesticated, and domesticated genotypes of lima bean (Phaseolus lunatus), to investigate the effect of plant domestication on microbial community assembly. In general, rhizosphere communities were more diverse than bulk soil, but no differences were found among genotypes. Our results showed that the microbial community's structure was different from wild and semi-domesticated as compared to domesticated genotypes. The community similarity decreased 57.67% from wild to domesticated genotypes. In general, the most abundant phyla were Actinobacteria (21.9%), Proteobacteria (20.7%), Acidobacteria (14%), and Firmicutes (9.7%). Comparing the different genotypes, the analysis showed that Firmicutes (Bacillus) was abundant in the rhizosphere of the wild genotypes, while Acidobacteria dominated semi-domesticated plants, and Proteobacteria (including rhizobia) was enriched in domesticated P. lunatus rhizosphere. The domestication process also affected the microbial community network, in which the complexity of connections decreased from wild to domesticated genotypes in the rhizosphere. Together, our work showed that the domestication of P. lunatus shaped rhizosphere microbial communities from taxonomic to a functional level, changing the abundance of specific microbial groups and decreasing the complexity of interactions among them.


Assuntos
Microbiota , Phaseolus , Phaseolus/genética , Phaseolus/microbiologia , Raízes de Plantas/microbiologia , Rizosfera , Domesticação , RNA Ribossômico 16S/genética , Microbiota/genética , Proteobactérias/genética , Plantas , Acidobacteria/genética , Solo/química , Microbiologia do Solo
16.
Eur J Pharmacol ; 938: 175396, 2023 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-36410419

RESUMO

The most prevalent cystic fibrosis (CF)-causing mutation - F508del - impairs the folding of CFTR protein, resulting in its defective trafficking and premature degradation. Small molecules termed correctors may rescue F508del-CFTR and therefore constitute promising pharmacotherapies acting on the fundamental cause of the disease. Here, we screened a collection of triazole compounds to identify novel F508del-CFTR correctors. The functional primary screen identified four hit compounds (LSO-18, LSO-24, LSO-28, and LSO-39), which were further validated and demonstrated to rescue F508del-CFTR processing, plasma membrane trafficking, and function. To interrogate their mechanism of action (MoA), we examined their additivity to the clinically approved drugs VX-661 and VX-445, low temperature, and genetic revertants of F508del-CFTR. Rescue of F508del-CFTR processing and function by LSO-18, LSO-24, and LSO-28, but not by LSO-39, was additive to VX-661, whereas LSO-28 and LSO-39, but not LSO-18 nor LSO-24, were additive to VX-445. All compounds under investigation demonstrated additive rescue of F508del-CFTR processing and function to low temperature as well as to rescue by genetic revertants G550E and 4RK. Nevertheless, none of these compounds was able to rescue processing nor function of DD/AA-CFTR, and LSO-39 (similarly to VX-661) exhibited no additivity to genetic revertant R1070W. From these findings, we suggest that LSO-39 (like VX-661) has a putative binding site at the NBD1:ICL4 interface, LSO-18 and LSO-24 seem to share the MoA with VX-445, and LSO-28 appears to act by a different MoA. Altogether, these findings represent an encouraging starting point to further exploit this chemical series for the development of novel CFTR correctors.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística , Fibrose Cística , Humanos , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Aminopiridinas/farmacologia , Aminopiridinas/uso terapêutico , Benzodioxóis/farmacologia , Fibrose Cística/tratamento farmacológico , Mutação , Triazóis/farmacologia , Triazóis/uso terapêutico
17.
Saúde Soc ; 32(3): e220127pt, 2023. tab
Artigo em Português | LILACS | ID: biblio-1522951

RESUMO

Resumo O Subsistema de Atenção à Saúde Indígena (SasiSUS), como parte do Sistema Único de Saúde (SUS), é responsável pela atenção à saúde dos povos indígenas do Brasil. Em âmbito local, são os Distritos Sanitários Especiais Indígenas (DSEI) os responsáveis pela gestão, planejamento e organização do processo de trabalho das equipes multidisciplinares de saúde indígena (EMSI), que realizam a atenção primária à saúde para essa população. O objetivo do estudo foi analisar como ocorrem o planejamento e a gestão do processo de trabalho das EMSI. Foi realizado um estudo de casos múltiplos holístico, considerando sete DSEI como unidades de análise. A principal fonte de dados utilizada foi a entrevista e, de forma complementar, a observação direta. Os resultados indicaram que, de forma geral, o planejamento está presente na organização do processo de trabalho das equipes, com variações entre os DSEI. A efetivação das ações planejadas foi relacionada à disponibilidade de diferentes recursos: funcionamento adequado do sistema de informação e a articulação intra e intersetorial do SasiSUS. Como conclusão, apontou-se a necessidade de radicalização da participação no planejamento e na gestão, necessária a uma ação coordenada para garantia da atenção diferenciada e dos princípios do SUS.


Abstract The Indigenous Health Care Subsystem (SasiSUS), as part of the Brazilian National Health System (SUS), is responsible for health care for indigenous peoples in Brazil. At the local level, the Special Indigenous Health Districts (DSEI) are responsible for managing, planning, and organizing the work process of the multidisciplinary indigenous health teams (EMSI), which provide primary health care for this population. The objective of the study was to analyze how the planning and the management of the EMSI work process occurs. A holistic multiple-case study was carried out, considering seven DSEI as units of analysis. The main source of data used were interviews and, in a complementary way, direct observation. The results indicated that, in general, planning is present in the organization of the teams' work process, with variations between the DSEI. Carrying out the planned actions was related to the availability of different resources: adequate functioning of the information system and the intra and intersectoral articulation of SasiSUS. As a conclusion, the need to radicalize participation in planning and management, necessary for a coordinated action to guarantee differentiated care and the principles of SUS, was pointed out.


Assuntos
Sistema Único de Saúde , Sistemas Locais de Saúde , Gestão em Saúde , Planejamento em Saúde , Serviços de Saúde do Indígena
18.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1422836

RESUMO

ABSTRACT Objective: To understand the experience of parents regarding prenatal diagnosis of orofacial cleft in their children. Methods: Descriptive study with a qualitative approach, carried out in a Brazilian public tertiary hospital between January and March 2019. Parents who were accompanying their children during hospitalization for primary surgeries and who had received the diagnosis of malformation during pregnancy were included in this study. Data was collected through semi-structured interviews, which were audio-recorded and transcribed in full. To prepare the results, Content Analysis was used in the Thematic modality. Results: The sample had 17 participants: 16 mothers and one father. From the speeches, three categories were unveiled: dealing with the unknown, assimilating the diagnosis, and positive and negative implications of prenatal diagnosis. Conclusions: We learned how complex and conflicting it was for parents to receive the diagnosis of malformation in their children, and that family and professional support was essential to the process of assimilation and coping. The findings point to the need for planning and implementing interventions, protocols and/or public policies aimed at assisting these parents in this period.


RESUMO Objetivo: Compreender a experiência de pais quanto ao diagnóstico pré-natal da fissura orofacial em seu filho. Métodos: Estudo descritivo, de abordagem qualitativa, realizado em hospital público e terciário brasileiro, entre janeiro e março de 2019. Foram incluídos pais que acompanhavam os filhos durante a internação para realização de cirurgias primárias, e que haviam recebido o diagnóstico da malformação durante o período gestacional. A coleta de dados foi realizada por meio de entrevista semiestruturada, que foi gravada e transcrita na íntegra. Para confecção dos resultados utilizou-se a Análise de Conteúdo na modalidade temática. Resultados: A amostra constou de 17 participantes, dos quais 16 mães e um pai. Com base nos discursos, desvelaram-se três categorias: lidando com o desconhecido; assimilando o diagnóstico; e implicações positivas e negativas do diagnóstico no pré-natal. Conclusões: Apreendeu-se quão complexo e conflitante foi para os pais receber o diagnóstico da malformação em seu filho, e o apoio familiar e profissional estabeleceu-se como indispensável ao processo de assimilação e enfrentamento. Os achados apontaram a necessidade de planejar e implementar intervenções, protocolos e/ou políticas públicas, para assistir esses pais nesse período.

19.
Genet Mol Biol ; 45(3): e20220065, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36218381

RESUMO

The Protist kingdom individuals are the most ancestral representatives of eukaryotes. They have inhabited Earth since ancient times and are currently found in the most diverse environments presenting a great heterogeneity of life forms. The unicellular and multicellular algae, photosynthetic and heterotrophic organisms, as well as free-living and pathogenic protozoa represents the protist group. The evolution of sex is directly associated with the origin of eukaryotes being protists the earliest protagonists of sexual reproduction on earth. In eukaryotes, the recombination through genetic exchange is a ubiquitous mechanism that can be stimulated by DNA damage. Scientific evidences support the hypothesis that reactive oxygen species (ROS) induced DNA damage can promote sexual recombination in eukaryotes which might have been a decisive factor for the origin of sex. The fact that some recombination enzymes also participate in meiotic sex in modern eukaryotes reinforces the idea that sexual reproduction emerged as consequence of specific mechanisms to cope with mutations and alterations in genetic material. In this review we will discuss about origin of sex and different strategies of evolve sexual reproduction in some protists such that cause human diseases like malaria, toxoplasmosis, sleeping sickness, Chagas disease, and leishmaniasis.

20.
Medicine (Baltimore) ; 101(36): e30216, 2022 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-36086782

RESUMO

Inflammatory bowel disease (IBD), including ulcerative colitis (UC) and Crohn disease (CD), has emerged as a global disease with an increasing incidence in developing and newly industrialized regions such as South America. This global rise offers the opportunity to explore the differences and similarities in disease presentation and outcomes across different genetic backgrounds and geographic locations. Our study includes 265 IBD patients. We performed an exploratory analysis of the databases of Chilean and North American IBD patients to compare the clinical phenotypes between the cohorts. We employed an unsupervised machine-learning approach using principal component analysis, uniform manifold approximation, and projection, among others, for each disease. Finally, we predicted the cohort (North American vs Chilean) using a random forest. Several unsupervised machine learning methods have separated the 2 main groups, supporting the differences between North American and Chilean patients with each disease. The variables that explained the loadings of the clinical metadata on the principal components were related to the therapies and disease extension/location at diagnosis. Our random forest models were trained for cohort classification based on clinical characteristics, obtaining high accuracy (0.86 = UC; 0.79 = CD). Similarly, variables related to therapy and disease extension/location had a high Gini index. Similarly, univariate analysis showed a later CD age at diagnosis in Chilean IBD patients (37 vs 24; P = .005). Our study suggests a clinical difference between North American and Chilean IBD patients: later CD age at diagnosis with a predominantly less aggressive phenotype (39% vs 54% B1) and more limited disease, despite fewer biological therapies being used in Chile for both diseases.


Assuntos
Colite Ulcerativa , Doença de Crohn , Doenças Inflamatórias Intestinais , Chile/epidemiologia , Colite Ulcerativa/genética , Etnicidade , Humanos , Doenças Inflamatórias Intestinais/diagnóstico , América do Norte/epidemiologia , Fenótipo
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