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1.
Br J Nutr ; 127(4): 526-539, 2022 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-33902765

RESUMO

This work aimed to evaluate the effects of whey protein concentrate (WPC) admixtured of curcumin on metabolic control, inflammation and oxidative stress in Wistar rats submitted to exhaustive exercise. A total of forty-eight male rats were divided into six experimental groups (n 8): standard diet group (AIN-93M), standard diet submitted to exhaustion test group (AIN-93M ET), WPC admixtured of curcumin group (WPC + CCM), WPC + CCM submitted to exhaustion test group (WPC + CCM ET), CCM group and CCM subjected to exhaustion test group (CCM ET). The swimming exhaustion test was performed after 4 weeks of experiment. The consumption of WPC + CCM as well as isolated CCM did not alter the biometric measurements, the animals' food consumption and the hepatic and kidney function, as well as the protein balance of the animals (P > 0·05), but reduced the glycaemia and the gene expression of TNF-α and IL-6 and increased the expression of IL-10 (P < 0·05). The animals that were submitted to the exhaustion test (AIN-93M ET) showed higher aspartate aminotransferase values when compared to the animals that did not perform the exercise (AIN-93 M) (P < 0·05). WPC + CCM reduced the concentration of nitric oxide, carbonylated protein and increased the concentration of catalase (P < 0·05). Both (WPC + CCM and CCM) were able to increase the concentrations of superoxide dismutase (P < 0·05). We concluded that the WPC admixtured of CCM represents a strategy capable of decreasing blood glucose and oxidative and inflammatory damage caused by exhaustive physical exercise in swimming.


Assuntos
Curcumina , Animais , Curcumina/farmacologia , Inflamação/prevenção & controle , Masculino , Estresse Oxidativo , Ratos , Ratos Wistar , Proteínas do Soro do Leite/farmacologia
2.
Rev Esc Enferm USP ; 48(2): 315-20, 2014 Apr.
Artigo em Português | MEDLINE | ID: mdl-24918892

RESUMO

Uncontrolled intervention study that compared the effectiveness of two elective courses on Prevention and Assistance to violence victims for students and professionals of the Health Sector. The participants answered multiple-choice questions on the topic before and after the course. Statistical analyzes were performed by comparison of two proportions on STATA/IC. Regarding the overall index of correct answers,before and after, it was 54.8 and 58.4% in the 10h Course and the 69.6 and 79.2% in the 30h Course. The most effective course was the 30h Course, with strategies of case discussions and visits to assistance services to violence victims. There is a great necessity to include the discipline in the curriculum of healthcare courses permanently.


Assuntos
Pessoal de Saúde/educação , Violência/prevenção & controle , Adolescente , Adulto , Feminino , Humanos , Masculino , Inquéritos e Questionários , Adulto Jovem
3.
J Interpers Violence ; : 8862605241256389, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38829004

RESUMO

Despite the majority of Brazilians identifying as black, racial disparities are significant. Black women encounter disproportionate difficulties, with greater rates of homicide, unemployment, and poverty. After the Maria da Penha Law (2006), which is regarded as one of the most comprehensive laws to address domestic violence, there has been a notable increase in femicide among black women and a decrease in cases among white women. This paper aims to analyze the differences between white and black survivors of domestic violence in terms of the access and support they received from the violence against women multi agency network in the city of São Paulo, Brazil. To this end, in-depth interviews (IDI) were conducted with nine white and nine black women who were seeking help in the justice system in June of 2018. The IDI were analyzed under critical path and structural racism theories, in order to understand how inequality markers such as race might affect the institutional response to the survivor's help seeking. The results indicated that black women received less information and support while seeking institutional help, as they faced more obstacles compared to white women. Among the interviewees critical paths, the access to the services was denied by providers 13 times for black women in contrast with 1 access denial for white women-also considering cases that discontinued the needed assistance due to institutional violence. The observed obstacles lived by black women in the multiagency network not only resulted in the path for these women toward support being longer but in many cases being repeated unsuccessfully multiple times. This study concludes that thus all women face obstacles while seeking help in formal institutions, black women may face greater barriers in this path due to how structural racism is reproduced in the services that should guarantee rights.

4.
Health Policy Plan ; 39(6): 552-563, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38758072

RESUMO

Domestic violence (DV) is a global prevalent health problem leading to adverse health consequences, yet health systems are often unprepared to address it. This article presents a comparative synthesis of the health system's pre-conditions necessary to enable integration of DV in health services in Brazil, Nepal, Sri Lanka and occupied Palestinian Territories (oPT). A cross-country, comparative analysis was conducted using a health systems readiness framework. Data collection involved multiple data sources, including qualitative interviews with various stakeholders; focus-group discussions with women; structured facility observations; and a survey with providers. Our findings highlight deficiencies in policy and practice that need to be addressed for an effective DV response. Common readiness gaps include unclear and limited guidance on DV, unsupportive leadership coupled with limited training and resources. Most providers felt unprepared, lacked guidance and felt unsupported and unprotected by managers and their health system. While in Brazil most providers felt they should respond to DV cases, many in Sri Lanka preferred not to. Such organizational and service delivery challenges, in turn, also affected how health providers responded to DV cases leaving them not confident, uncertain about their knowledge and unsure about their role. Furthermore, providers' personal beliefs and values on DV and gender norms also impacted their motivation and ability to respond, prompting some to become 'activists' while others were reluctant to intervene and prone to blame women. Our synthesis also pointed to a gap in women's use of health services for DV as they had low trust in providers. Our conceptual framework demonstrates the importance of having clear policies and highlights the need to engage leadership across every level of the system to reframe challenges and strengthen routine practices. Future research should also determine the ways in which women's understanding and needs related to DV help-seeking are addressed.


Assuntos
Violência Doméstica , Grupos Focais , Humanos , Feminino , Nepal , Violência Doméstica/prevenção & controle , Sri Lanka , Brasil , Pessoal de Saúde/psicologia , Atenção à Saúde/organização & administração , Pesquisa Qualitativa , Masculino , Entrevistas como Assunto , Adulto , Liderança
5.
Trauma Violence Abuse ; 24(3): 1282-1299, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-34978481

RESUMO

Background: Globally, healthcare professionals (HCPs) are increasingly asked to identify and respond to domestic violence and abuse (DVA) among patients. However, their own experiences of DVA have been largely ignored.Aim: To determine the prevalence of current and lifetime DVA victimisation among HCPs globally, and identify risk markers, consequences and support-seeking for DVA.Method: PubMed, EMBASE, PsycINFO, CINAHL ASSIA and ProQuest were searched. Studies about HCPs' personal experience of any type of DVA from any health service/country were included. Meta-analysis and narrative synthesis were adopted.Results: Fifty-one reports were included. Pooled lifetime prevalence was 31.3% (95% CI [24.7%, 38.7%] p < .001)) and past-year prevalence was 10.4% (95% CI [5.8%, 17.9%] p <.001). Pooled lifetime prevalence significantly differed (Qb=6.96, p < .01) between men (14.8%) and women (41.8%), and between HCPs in low-middle income (64.0%) and high-income countries (20.7%) (Qb = 31.41, p <.001). Risk markers were similar to those in the general population, but aspects of the HCP role posed additional and unique risks/vulnerabilities. Direct and indirect consequences of DVA meant HCP-survivors were less able to work to their best ability. While HCP-survivors were more likely than other HCPs to identify and respond to DVA among patients, doing so could be distressing. HCP-survivors faced unique barriers to seeking support. Being unable to access support - which is crucial for leaving or ending relationships with abusive people - leaves HCP-survivors entrapped.Conclusion: Specialised DVA interventions for HCPs are urgently needed, with adaptations for different groups and country settings. Future research should focus on developing interventions with HCP-survivors.


Assuntos
Vítimas de Crime , Violência Doméstica , Feminino , Humanos , Masculino , Atenção à Saúde , Pessoal de Saúde , Prevalência
6.
Mol Nutr Food Res ; 67(15): e2300096, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37428472

RESUMO

Emerging evidence indicates the association between an unhealthy gut and chronic diseases. A healthy gut comprises an intact gut epithelium and balanced gut microbes. Diet is one of the critical factors that modulate gut health by positively or negatively affecting the intestinal barrier and gut microbes. Blueberries are an excellent source of health-promoting bioactive components, and this systematic review is conducted to evaluate the effect of dietary blueberries on gut health. A literature search is conducted on PubMed/MEDLINE, Scopus, Web of Science, and Embase databases to review relevant studies published between 2011 and 2022 according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The Systematic Review Center for Laboratory Animal Experimentation Risk of Bias (SYRCLE-RoB) tool is used for methodological quality assessments. Sixteen studies included from four countries are reviewed and the results are synthesized narratively. This data analysis indicates that blueberry supplementation improves gut health by improving intestinal morphology, reducing gut permeability, suppressing oxidative stress, ameliorating gut inflammation, and modulating the composition and function of gut microbes. However, there are significant knowledge gaps in this field. These findings indicate that further studies are needed to establish the beneficial effects of blueberries on gut health.


Assuntos
Mirtilos Azuis (Planta) , Microbioma Gastrointestinal , Animais , Dieta , Nível de Saúde , Inflamação
7.
Gene ; 871: 147428, 2023 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-37068695

RESUMO

BACKGROUND: Since patients with cystic fibrosis with different Cystic Fibrosis Transmembrane Regulator (CFTR) genotypes present a wide response variability for modulator drugs such as Orkambi®, it is important to screen variants in candidate genes with an impact on precision and personalized medicine, such as Solute Carrier Family 26, member 9 (SLC26A9) gene. METHODS: Sanger sequencing for the exons and intron-exon boundary junctions of the SLC26A9 gene was employed in nine individuals with p.Phe508del homozygous genotype for the CFTR gene who were not under CFTR modulators therapy. The sequencing variants were evaluated by in silico prediction tools. The CFTR function was measured by cAMP-stimulated current (ΔIsc-eq-FSK) in polarized CFTR of human nasal epithelial cells cultured in micro-Ussing chambers with Orkambi®. RESULTS: We found 24 intronic variants, three in the coding region (missense variants - rs74146719 and rs16856462 and synonymous - rs33943971), and three in the three prime untranslated region (3' UTR) region in the SLC26A9 gene. Twenty variants were considered benign according to American College of Medical Genetics and Genomics guidelines, and ten were classified as uncertain significance. Although some variants had deleterious predictions or possible alterations in splicing, the majority of predictions were benign or neutral. When we analyzed the ΔIsc-eq-FSK response to Orkambi®, there were no significant differences within the genotypes and alleles for all 30 variants in the SLC26A9 gene. CONCLUSIONS: Among the nine individuals with p.Phe508del homozygous genotype for the CFTR gene, no pathogenic SLC26A9 variants were found, and we did not detect associations from the 30 SLC26A9 variants and the response to the Orkambi® in vitro.


Assuntos
Fibrose Cística , Humanos , Fibrose Cística/tratamento farmacológico , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Mutação , Nucleotídeos , Transportadores de Sulfato/genética , Antiporters/genética
8.
BMC Prim Care ; 24(1): 198, 2023 09 25.
Artigo em Inglês | MEDLINE | ID: mdl-37749549

RESUMO

BACKGROUND: Health systems have a critical role in a multi-sectoral response to domestic violence against women (DVAW). However, the evidence on interventions is skewed towards high income countries, and evidence based interventions are not easily transferred to low-and middle-income countries (LMIC) where significant social, cultural and economic differences exist. We evaluated feasibility and acceptability of implementation of an intervention (HERA-Healthcare Responding to Violence and Abuse) to improve the response to DVAW in two primary health care clinics (PHC) in Brazil. METHODS: The study design is a mixed method process and outcome evaluation, based on training attendance records, semi-structured interviews (with 13 Primary Health Care (PHC) providers, two clinic directors and two women who disclosed domestic violence), and identification and referral data from the Brazilian Epidemiological Surveillance System (SINAN). RESULTS: HERA was feasible and acceptable to women and PHC providers, increased providers' readiness to identify DVAW and diversified referrals outside the health system. The training enhanced the confidence and skills of PHC providers to ask directly about violence and respond to women's disclosures using a women centred, gender and human rights perspective. PHC providers felt safe and supported when dealing with DVAW because HERA emphasised clear roles and collective action within the clinical team. A number of challenges affected implementation including: differential managerial support for the Núcleo de Prevenção da Violência (Violence Prevention Nucleus-NPV) relating to the allocation of resources, monitoring progress and giving feedback; a lack of higher level institutional endorsement prioritising DVAW work; staff turnover; a lack of feedback from external support services to PHC clinics regarding DVAW cases; and inconsistent practices regarding documentation of DVAW. CONCLUSION: Training should be accompanied by system-wide institutional change including active (as opposed to passive) management support, allocation of resources to support roles within the NPV, locally adapted protocols and guidelines, monitoring progress and feedback. Communication and coordination with external support services and documentation systems are crucial and need improvement. DVAW should be prioritised within leadership and governance structures, for example, by including DVAW work as a specific commissioning goal.


Assuntos
Violência Doméstica , Humanos , Feminino , Brasil/epidemiologia , Violência Doméstica/prevenção & controle , Projetos de Pesquisa , Instituições de Assistência Ambulatorial , Atenção Primária à Saúde
9.
BMJ Open ; 12(2): e051924, 2022 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-35193906

RESUMO

OBJECTIVES: To synthesise evidence on the effectiveness, cost-effectiveness and barriers to responding to violence against women (VAW) in sexual and reproductive health (SRH) services in low/middle-income countries (LMICs). DESIGN: Mixed-methods systematic review. DATA SOURCES: Medline, Embase, Psycinfo, Cochrane, Cinahl, IMEMR, Web of Science, Popline, Lilacs, WHO RHL, ClinicalTrials.gov, Google, Google Scholar, websites of key organisations through December 2019. ELIGIBILITY CRITERIA: Studies of any design that evaluated VAW interventions in SRH services in LMICs. DATA EXTRACTION AND SYNTHESIS: Concurrent narrative quantitative and thematic qualitative syntheses, integration through line of argument and mapping onto a logic model. Two reviewers extracted data and appraised quality. RESULTS: 26 studies of varied interventions using heterogeneous outcomes. Of ten interventions that strengthened health systems capacity to respond to VAW during routine SRH consultation, three reported no harm and reduction in some types of violence. Of nine interventions that strengthened health systems and communities' capacity to respond to VAW, three reported conflicting effects on re-exposure to some types of VAW and mixed effect on SRH. The interventions increased identification of VAW but had no effect on the provision (75%-100%) and uptake (0.6%-53%) of referrals to VAW services. Of seven psychosocial interventions in addition to SRH consultation that strengthened women's readiness to address VAW, four reduced re-exposure to some types of VAW and improved health. Factors that disrupted the pathway to better outcomes included accepting attitudes towards VAW, fear of consequences and limited readiness of the society, health systems and individuals. No study evaluated cost-effectiveness. CONCLUSIONS: Some VAW interventions in SRH services reduced re-exposure to some types of VAW and improved some health outcomes in single studies. Future interventions should strengthen capacity to address VAW across health systems, communities and individual women. First-line support should be better tailored to women's needs and expectations. PROSPERO REGISTRATION NUMBER: CRD42019137167.


Assuntos
Serviços de Saúde Reprodutiva , Países em Desenvolvimento , Feminino , Humanos , Pobreza , Saúde Reprodutiva , Comportamento Sexual , Violência/prevenção & controle
10.
Int J Health Policy Manag ; 11(7): 961-972, 2022 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-33327691

RESUMO

BACKGROUND: There is growing recognition of the health sector's potential role in addressing domestic violence (DV) against women. Although Brazil has a comprehensive policy framework on violence against women (VAW), implementation has been slow and incomplete in primary healthcare (PHC), and little is known about the implementation challenges. This paper aims to assess the readiness of two PHC clinics in urban Brazil to integrate an intervention to strengthen their DV response. METHODS: We conducted 20 semi-structured interviews with health managers and health providers; a document analysis of VAW and DV policies from São Paulo and Brazil; and 2 structured facility observations. Data were analysed using thematic analysis. RESULTS: Findings from our readiness assessment revealed gaps in both current policy and practice needing to be addressed, particularly with regards to governance and leadership, health service organisation and health workforce. DV received less political recognition, being perceived as a lower priority compared to other health issues. Lack of clear guidance from the central and municipal levels emerged as a crucial factor that weakened DV policy implementation both by providers and managers. Furthermore, responses to DV lost visibility, as they were diluted within generic violence responses. The organizational structure of the PHC system in São Paulo, which prioritised the number of consultations and household visits as the main performance indicators, was an additional difficulty in legitimising healthcare providers' time to address DV. Individual-level challenges reported by providers included lack of time and knowledge of how to respond, as well as fears of dealing with DV. CONCLUSION: Assessing readiness is critical because it helps to evaluate what services and infrastructure are already in place, also identifying obstacles that may hinder adaptation and integration of an intervention to strengthen the response to DV before implementation.


Assuntos
Violência Doméstica , Humanos , Feminino , Brasil , Violência Doméstica/prevenção & controle , Pessoal de Saúde , Encaminhamento e Consulta , Atenção Primária à Saúde
11.
Nutrients ; 14(22)2022 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-36432591

RESUMO

(1) Background: Exhaustive exercise can induce muscle damage. The consumption of nutritional compounds with the ability to positively influence the oxidative balance and an exacerbated inflammatory process has been previously studied. However, little is known about the nutritional value of curcumin (CCM) when mixed with whey protein concentrate (WPC). This study was developed to evaluate the effect of CCM-added WPC on inflammatory and oxidative process control and histopathological consequences in muscle tissue submitted to an exhaustive swimming test (ET). (2) Methods: 48 animals were randomly allocated to six groups (n = 8). An ET was performed 4 weeks after the start of the diet and animals were euthanized 24 h post ET. (3) Results: WPC + CCM and CCM groups reduced IL-6 and increased IL-10 expression in muscle tissue. CCM reduced carbonyl protein after ET compared to standard AIN-93M ET and WPC + CCM ET diets. Higher nitric oxide concentrations were observed in animals that consumed WPC + CCM and CCM. Consumption of WPC + CCM or isolated CCM reduced areas of inflammatory infiltrate and fibrotic tissue in the muscle. (4) Conclusions: WPC + CCM and isolated CCM contribute to the reduction in inflammation and oxidative damage caused by the exhaustive swimming test.


Assuntos
Curcumina , Animais , Proteínas do Soro do Leite/farmacologia , Proteínas do Soro do Leite/metabolismo , Curcumina/farmacologia , Curcumina/metabolismo , Estresse Oxidativo , Músculo Esquelético/metabolismo , Inflamação/metabolismo
12.
EClinicalMedicine ; 54: 101703, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36284645

RESUMO

Background: Well tolerated antivirals administered early in the course of COVID-19 infection when the viremia is highest could prevent progression to severe disease. Favipiravir inhibits SARS-CoV-2 viral replication in vitro with evidence of clinical benefit in open label trials. Placebo controlled studies of people with early symptomatic COVID-19 with regular assessments of SARS-CoV-2 viral load can determine if it has an antiviral effect and improves clinical outcomes. Methods: People with PCR-confirmed COVID-19 and 5 days or less of symptoms were randomised 1:1 to favipiravir 1800 mg on day 1, then 800 mg twice daily or matched placebo for 14 days. SARS-CoV-2 viral load was quantitated from second daily self-collected nose-throat swabs while receiving study drug. The primary endpoint was time to virological cure defined as 2 successive swabs negative for SARS-CoV-2 by PCR and secondary outcomes were progression of disease severity, symptom resolution and safety. Findings: Between 31 July 2020 and 19 September 2021, 200 people were enrolled (199 in the community, 1 in hospital) with 190 receiving one or more doses of drug (modified intention to treat [mITT] population). There was no difference in time to virological cure (Log-rank p=0.6 comparing Kaplan Meier curves), progression to hospitalisation (14 favipiravir, 9 placebo; p=0.38), time to symptom resolution (cough, fever, sore throat) and there were no deaths. 51 people related an adverse event that was possibly drug related, but these were evenly distributed (n=24 favipiravir, n=27 placebo). Sensitivity analyses where the definition of virological cure was changed to: a single negative PCR, exclude datapoints based on the presence or absence of human DNA in the swab, a SARS-CoV-2 viral load < 300 copies/mL being considered negative all demonstrated no difference between arms. Interpretation: Favipiravir does not improve the time to virological cure or clinical outcomes and shows no evidence of an antiviral effect when treating early symptomatic COVID-19 infection. Funding: The study was supported in part by grants from the Commonwealth Bank Australia, the Lord Mayor's Charitable Foundation, Melbourne Australia and the Orloff Family Charitable Trust, Melbourne, Australia. JHM is supported by the Medical Research Future Fund, AYP, JT are supported by the Australian National Health and Medical Research Council.

13.
Oxid Med Cell Longev ; 2021: 9264639, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34659641

RESUMO

Exhaustive and acute unusual physical exercise leads to muscle damage. Curcumin has been widely studied due to the variety of its biological activities, attributed to its antioxidant and anti-inflammatory properties. Furthermore, it has shown positive effects on physical exercise practitioners. However, there is no literature consensus on the beneficial effects of curcumin in acute physical activities performed by sedentary individuals. Therefore, we systematically reviewed evidence from clinical trials on the main effects of curcumin supplementation on inflammatory markers, sports performance, and muscle damage during acute physical exercises in these individuals. We searched PubMed/MEDLINE, Scopus, Web of Science, and Embase databases, and only original studies were analyzed according to the PRISMA guidelines. The included studies were limited to supplementation of curcumin during acute exercise. A total of 5 studies were selected. Methodological quality assessments were examined using the SYRCLE's risk-of-bias tool. Most studies have shown positive effects of curcumin supplementation in sedentary individuals undergoing acute physical exercise. Overall, participants supplemented with curcumin showed less muscle damage, reduced inflammation, and better muscle performance. The studies showed heterogeneous data and exhibited methodological limitations; therefore, further research is necessary to ensure curcumin supplementation benefits during acute and high-intensity physical exercises. Additionally, mechanistic and highly controlled studies are required to improve the quality of the evidence and to elucidate other possible mechanisms. This study is registered with Prospero number CRD42021262718.


Assuntos
Anti-Inflamatórios não Esteroides/uso terapêutico , Desempenho Atlético/fisiologia , Curcumina/uso terapêutico , Suplementos Nutricionais/análise , Exercício Físico/fisiologia , Inflamação/tratamento farmacológico , Músculo Esquelético/efeitos dos fármacos , Adulto , Anti-Inflamatórios não Esteroides/farmacologia , Curcumina/farmacologia , Feminino , Humanos , Masculino , Comportamento Sedentário , Adulto Jovem
14.
Food Chem ; 345: 128772, 2021 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-33310255

RESUMO

We developed a whey protein admixture of turmeric extract by spray drying (TWPC-SD) and by foam mat drying (TWPC-FMD) and compared its bioactive compounds and nutrients contents. TWPC samples were evaluated for preference and acceptability. Vitamins and carotenoids were determined by high-performance liquid chromatography. Total phenolics, curcumin and antioxidant capacity were determined by spectrophotometry. Centesimal composition was performed according to the Association of Official Analytical Chemists. Chemical elements were determined by inductively coupled plasma optical emission spectrometry. TWPC containing 3.6 mg of curcumin showed good acceptability. Carotenoids and riboflavin were not detected in either TWPC. Vitamin C content was maintained, and antioxidant capacity was increased in both products (p < 0.05). TWPC-SD showed higher total phenolic and curcumin contents compared to TWPC-FMD (p < 0.05). Thus, the TWPC-SD is a good alternative for human consumption since it showed good sensory acceptability and its nutrients and bioactive compounds can contribute to human health.


Assuntos
Misturas Complexas/química , Curcuma/química , Nutrientes/análise , Extratos Vegetais/química , Proteínas do Soro do Leite/química , Antioxidantes/análise , Ácido Ascórbico/análise , Carotenoides/análise , Cromatografia Líquida de Alta Pressão , Dessecação , Humanos , Fenóis/análise , Secagem por Atomização , Vitaminas/análise
15.
Sci Rep ; 9(1): 6234, 2019 04 17.
Artigo em Inglês | MEDLINE | ID: mdl-30996306

RESUMO

Cystic fibrosis (CF) is caused by ~300 pathogenic CFTR variants. The heterogeneity of which, challenges molecular diagnosis and precision medicine approaches in CF. Our objective was to identify CFTR variants through high-throughput sequencing (HTS) and to predict the pathogenicity of novel variants through in 8 silico tools. Two guidelines were followed to deduce the pathogenicity. A total of 169 CF patients had genomic DNA submitted to a Targeted Gene Sequencing and we identified 63 variants (three patients had three variants). The most frequent alleles were: F508del (n = 192), G542* (n = 26), N1303K (n = 11), R1162* and R334W (n = 9). The screened variants were classified as follows: 41 - pathogenic variants [classified as (I) n = 23, (II) n = 6, (III) n = 1, (IV) n = 6, (IV/V) n = 1 and (VI) n = 4]; 14 - variants of uncertain significance; and seven novel variants. To the novel variants we suggested the classification of 6b-16 exon duplication, G646* and 3557delA as Class I. There was concordance among the predictors as likely pathogenic for L935Q, cDNA.5808T>A and I1427I. Also, Y325F presented two discordant results among the predictors. HTS and in silico analysis can identify pathogenic CFTR variants and will open the door to integration of precision medicine into routine clinical practice in the near future.


Assuntos
Biologia Computacional/métodos , Simulação por Computador , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Heterogeneidade Genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Adolescente , Alelos , Éxons , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Medicina de Precisão/métodos , Prognóstico , Análise de Sequência de DNA/métodos
16.
Biochim Biophys Acta Mol Basis Dis ; 1865(6): 1323-1331, 2019 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-30716472

RESUMO

BACKGROUND: We analyzed the CFTR response to VX-809/VX-770 drugs in conditionally reprogrammed cells (CRC) of human nasal epithelium (HNE) from F508del/F508del patients based on SNP rs7512462 in the Solute Carrier Family 26, Member 9 (SLC26A9; MIM: 608481) gene. METHODS: The Isc-eq measurements of primary nasal epithelial cells from F508del/F508del patients (n = 12) for CFTR function were performed in micro Ussing chambers and compared with non-CF controls (n = 2). Data were analyzed according to the rs7512462 genotype which were determined by real-time PCR. RESULTS: The CRC-HNE cells from F508del/F508del patients evidenced high variability in the basal levels of CFTR function. Also, the rs7512462*C allele showed an increased basal CFTR function and higher responses to VX-809 + VX-770. The rs7512462*CC + CT genotypes together evidenced CFTR function levels of 14.89% relatively to wt/wt (rs7512462*CT alone-15.29%) i.e., almost double of rs7512462*TT (7.13%). Furthermore, sweat [Cl-] and body mass index of patients also evidenced an association with the rs7512462 genotype. CONCLUSION: The CFTR function can be performed in F508del/F508del patient-derived CRC-HNEs and its function and responses to VX-809 + VX-770 combination as well as clinical data, are all associated with the rs7512462 variant, which partially sheds light on the generally inter-individual phenotypic variability and in personalized responses to CFTR modulator drugs.


Assuntos
Aminofenóis/farmacologia , Aminopiridinas/farmacologia , Antiporters/genética , Benzodioxóis/farmacologia , Agonistas dos Canais de Cloreto/farmacologia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Células Epiteliais/efeitos dos fármacos , Quinolonas/farmacologia , Transportadores de Sulfato/genética , Alelos , Antiporters/metabolismo , Sequência de Bases , Índice de Massa Corporal , Estudos de Casos e Controles , Reprogramação Celular , Fibrose Cística/genética , Fibrose Cística/metabolismo , Fibrose Cística/patologia , Regulador de Condutância Transmembrana em Fibrose Cística/deficiência , Cultura em Câmaras de Difusão , Células Epiteliais/metabolismo , Células Epiteliais/patologia , Expressão Gênica , Genótipo , Humanos , Modelos Biológicos , Mucosa Nasal/efeitos dos fármacos , Mucosa Nasal/metabolismo , Mucosa Nasal/patologia , Polimorfismo de Nucleotídeo Único , Cultura Primária de Células , Deleção de Sequência , Transportadores de Sulfato/metabolismo , Suor/química
17.
Pediatr Pulmonol ; 53(7): 888-900, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29635781

RESUMO

BACKGROUND: Cystic fibrosis (CF) is due to dysfunction of the CFTR channel and function of this channel is, in turn, affected by modifier genes that can impact the clinical phenotype. In this context, we analyzed the interaction among rs3788766*SLC6A14, rs7512462*SLC26A9, rs17235416*SLC11A1, and rs17563161*SLC9A3 variants, CFTR mutations and 40 CF severity markers by the Multifactor Dimensionality Reduction (MDR) model. METHODS: A total of 164 patients with CF were included in the study. The variants in the modifier genes were identified by real-time PCR and the genotype of the CFTR gene in the diagnostic routine. Analysis of interaction between variants, CFTR mutations groupings and demographic, clinical and laboratory data were performed by the MDR. RESULTS: There were interaction between the rs3788766, rs7512462, rs17235416, and rs17563161 variants, and CFTR mutations with pancreatic insufficiency (PI), onset of digestive symptoms, and presence of mucoid Pseudomonas aeruginosa. Regarding PI, the interaction was observed for CFTR*rs17563161 (P-value = 0.015). Also, for onset of digestive symptoms the interaction was observed for CFTR*rs3788766*rs7512462*rs17235416*rs17563161 (P-value = 0.036). Considering the presence of mucoid P. aeruginosa, the interaction occurred for CFTR*rs3788766*rs7512462*rs17563161 (P-value = 0.035). CONCLUSION: Interaction between variants in the SLC family genes and the grouping for CFTR mutations were associated with PI, onset of digestive symptoms and mucoid P. aeruginosa, being important to determine one of the factors that may cause the diversity among the patients with CF.


Assuntos
Fibrose Cística/genética , Insuficiência Pancreática Exócrina/genética , Proteínas de Membrana Transportadoras/genética , Infecções por Pseudomonas/genética , Adolescente , Adulto , Idoso , Biomarcadores , Criança , Pré-Escolar , Fibrose Cística/complicações , Fibrose Cística/microbiologia , Insuficiência Pancreática Exócrina/complicações , Insuficiência Pancreática Exócrina/microbiologia , Feminino , Genótipo , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Infecções por Pseudomonas/complicações , Infecções por Pseudomonas/microbiologia , Pseudomonas aeruginosa , Adulto Jovem
18.
Interface (Botucatu, Online) ; 27: e220656, 2023.
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1514395

RESUMO

É difícil reconhecer o sexo forçado vivido nas relações sexuais no âmbito doméstico como violência. Há também uma imprecisão entre a violência, tal como no sexo forçado, e a desigualdade de gênero, como na aceitação do dever marital. Buscou-se compreender o que profissionais da Atenção Primária pensam sobre essas duas experiências, como interpretam relatos das mulheres e o que fazem sobre isso. Entrevistados, os profissionais dizem que sexo forçado ou sexo sem consentimento explícito são ambos violência, e assim devem ser nomeados. Agindo desse modo, eles pensam esclarecer suas pacientes acerca dos direitos das mulheres. No entanto, no dia a dia, nem todos o fazem e ninguém reconheceu ou nomeou a aceitação do dever marital como desigualdade de gênero. Conclui-se que, se a violência está presente como questão, sua distinção quanto à desigualdade de gênero ainda é um desafio.(AU)


Es difícil reconocer el sexo forzado vivido en las relaciones sexuales en el ámbito doméstico como violencia. Hay también una imprecisión entre la violencia, tal como en el sexo forzado, y la desigualdad de género, como en la aceptación del deber conyugal. Se buscó entender lo que los profesionales de la atención primaria piensan sobre esas dos experiencias, cómo interpretan los relatos de las mujeres y qué hacen sobre eso. Al ser entrevistados, los profesionales decían que el sexo forzado o el sexo sin consentimiento explícito son violencia y deben ser denominados como tal. Actuando así, ellos piensan aclarar a sus pacientes los derechos de las mujeres. Sin embargo, en el cotidiano no todos lo hacen y ninguno reconoció o nombró la aceptación del deber conyugal como desigualdad de género. Se concluyó que la violencia está presente como cuestión y que su distinción con relación a la igualdad de género todavía es un desafío.(AU)


Studies show how difficult it is to recognize what is experienced in sexual relationships within households. There is an inaccuracy between violence as in the forced sex, and gender inequality as in the acceptance of the marital duty. We aimed to understand what health care providers think about these two experiences, how they interpret women's reports and what they do about it. Interviewed, the professionals say that both forced sex and sex with no explicit consent are violence and so they should be named. By doing so, professionals intend to enlighten their patients about women's rights. However, in everyday life not everyone does and no one recognized or named marital duty as gender inequality. We conclude that if violence is present as an issue, its distinction in relation to gender inequality is still a challenge.(AU)

19.
Saúde Soc ; 32(1): e220266pt, 2023. tab
Artigo em Português | LILACS | ID: biblio-1432383

RESUMO

Resumo O trabalho em rede tem papel central na assistência a mulheres em situação de violência. Este estudo analisa as diferentes perspectivas desse trabalho para profissionais da Atenção Primária e profissionais de serviços especializados nas áreas de assistência social, assistência jurídica e segurança pública, na cidade de São Paulo, Brasil. Realizaram-se entrevistas semi-estruturadas com 16 profissionais dos serviços especializados e 46 da saúde. Os eixos para a análise temática foram: o que os profissionais sabem e pensam sobre os demais serviços; sua atuação a partir disso; e suas expectativas. Os dados revelaram conhecimento insuficiente sobre os distintos serviços, resultando em dificuldades comunicativas, bem como em encaminhamentos equivocados pautados em idealizações sobre como deveria atuar o outro serviço. Concluímos que cada setor é bastante autônomo e seus serviços partem de seu próprio campo de atuação para definir aquilo que seria melhor para a mulher. O conjunto funciona mais como uma trama de serviços do que como uma rede.


Abstract Networking plays a central role in assisting women in situations of violence. This study analyzes how different the work perspectives are for Primary Care professionals and specialized services professionals in the areas of social and law assistance, and public security in the city of São Paulo, Brazil. Semi-structured interviews were carried out with 16 professionals from specialized services and 46 from the health sector. The axes for a thematic analysis were: what professionals know and think about services other than their own; their performance based on that; and their expectations. The findings revealed insufficient knowledge of the different services, resulting in communication difficulties as well as wrong referrals to other services, based on how other services would ideally work. We concluded that each sector is autonomous and its services start from its own field of action to define what would be best for women. The set works more like a mesh of services than a network.


Assuntos
Humanos , Feminino , Atenção Primária à Saúde , Serviços de Saúde da Mulher , Violência contra a Mulher , Acessibilidade aos Serviços de Saúde , Apoio Social , Defensoria Pública
20.
Gene ; 629: 117-126, 2017 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-28756021

RESUMO

INTRODUCTION: Cystic fibrosis (CF) manifests with clinical and histopathological variability depending on environmental and genetic factors. Moreover, the genes encoding ion channels[rs3788766(SLC6A14), rs7512462(SLC26A9), rs17235416(SLC11A1) and rs17563161(SLC9A3)] have been insufficiently studied as modifier genes. Then, our objective was associate the variants in the genes of SLC family with 43 CF severity markers. METHODS: The variants were identified by real-time-PCR in 188 CF patients considering the CFTR genotype. Statistical analyses were performed by parametric and nonparametric tests. The correction by multiple testing was performed by the False Rate Discovery test, alpha=0.05. RESULTS: Depending on the CFTR mutations, we found association of: (i) rs3788766*CC with mucoid Pseudomonas aeruginosa (OR=0.171; 95%CI=0.029-0.696), non-mucoid P. aeruginosa (OR=0.283; 95%CI=0.094-0.853) and Staphyloccocus aureus (OR=4.443; 95%CI=1.019-40.64), largest FEFmax(p=0.041) and best response to bronchodilator for FEF50%(p=0.033) and FEV1/FVC(p=0.044); (ii) rs3788766*CT with early start of pulmonary symptom (OR=3.524; 95%CI=1.229-10.1) and osteoporosis (OR=0.203; 95%CI=0.022-0.883); (iii) rs3788766*TT with lowest body mass index (OR=4.242; 95%CI=1.505-11.95), presence of mucoid P. aeruginosa (OR=3.176; 95%CI=1.29-7.819) and S. aureus (OR=0.116; 95%CI=0.004-0.881), highest Bhalla score (p=0.047) and lowest FEFmax(p=0.028) and FEF25%(p=0.031) values; (iv) rs7512462*CC with highest Shwachman-Kulczycki score (p=0.019), FVC(p=0.043), FEV1(p=0.047), FEV1/FVC(p=0.022), FEF50%(p=0.038) and FEF25-75%(p=0.016); (v) rs7512462*CT with lowest values of FVC(p=0.034), FEV1(p=0.047), FEV1/FVC(p=0.022), FEF25%(p=0.012), FEF50%(p=0.038), FEF75%(p=0.008), FEF25-75%(p=0.016) and ERV(p=0.023); (vi) rs7512462*TT with best response to the inhaled bronchodilator for FEV1(p=0.011), FEF50%(p=0.019), FEF75%(p=0.036) and FEF25-75%(p=0.008); (vii) rs17234516*Normal allele with lowest value of SaO2 (p=0.010) and S. aureus (OR=3.333; 95%CI=1.085-10.24); (viii) rs17563161*GG with lowest age for onset of digestive symptoms (OR=2.564; 95%CI=1.234-5.33). CONCLUSIONS: The clinical and laboratory variability of CF were associated with the variants in the genes of SLC family in our sample.


Assuntos
Fibrose Cística/genética , Fibrose Cística/patologia , Polimorfismo de Nucleotídeo Único , Proteínas Carreadoras de Solutos/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Humanos , Reação em Cadeia da Polimerase em Tempo Real
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