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Abstract Objective To evaluate the growth trajectory of head circumference and neurodevelopment, and to correlate head circumference with cognitive, language, and motor outcomes during the first two years. Method Prospective cohort study in a tertiary hospital including 95 newborns under 32 weeks or 1500 g. Neonates who developed major neonatal morbidities were excluded. The head circumference was measured at birth, at discharge, and at term-equivalent age, 1, 3, 5, 12, 18, and 24 months of corrected age, and the Bayley Scales (Bayley-III) were applied at 12, 18 and 24 months of corrected age to assess cognitive, language and, motor domains. Scores below 85 were classified as mild/moderate deficits and scores below 70 as severe deficits. The association between head circumference Z score and Bayley scores was assessed using Pearson's correlation. The study considered a significance level of 0.05. Results There was a decrease of -0.18 in the head circumference Z score between birth and discharge and the catch-up occurred between discharge and 1 month (an increase of 0.81 in the Z score). There was a positive correlation between head circumference and Bayley scores at 18 months. There was also a positive correlation between head circumference at discharge and at 5 months with the three domains of the Bayley. Conclusion Serial measurements of head circumference provide knowledge of the trajectory of growth, with early catch-up between discharge and 1 month, as well as its association with neurodevelopment. Head circumference is therefore a valuable clinical marker for neurodevelopment, especially in very preterm newborns.
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With the aging of the global population, neurodegenerative diseases are emerging as a major public health issue. The adoption of a less sedentary lifestyle has been shown to have a beneficial effect on cognitive decline, but the molecular mechanisms responsible are less clear. Here we provide a detailed analysis of the complex molecular, cellular, and systemic mechanisms underlying age-related cognitive decline and how lifestyle choices influence these processes. A review of the evidence from animal models, human studies, and postmortem analyses emphasizes the importance of integrating physical exercise with cognitive, multisensory, and motor stimulation as part of a multifaceted approach to mitigating cognitive decline. We highlight the potential of these non-pharmacological interventions to address key aging hallmarks, such as genomic instability, telomere attrition, and neuroinflammation, and underscore the need for comprehensive and personalized strategies to promote cognitive resilience and healthy aging.
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Exercício Físico , Comportamento Sedentário , Humanos , Animais , Envelhecimento , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/metabolismo , Instabilidade GenômicaRESUMO
More globally diverse perspectives are needed in genomic studies and precision medicine practices on non-Europeans. Here, we illustrate this by discussing the distribution of clinically actionable genetic variants involved in drug response in Andean highlanders and Amazonians, considering their environment, history, genetic structure, and historical biases in the perception of biological diversity of Native Americans.
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Genômica , Humanos , Variação Genética , Indígenas Sul-Americanos/genética , Genoma Humano , América do Sul , Medicina de PrecisãoRESUMO
Objetivo: compreender as vulnerabilidades a que as mulheres com hanseníase estão expostas e quais as implicações tanto para sua saúde como para sua vida social, religiosa, política e familiar. Metodologia: Trata-se de uma revisão integrativa da literatura. A coleta de dados foi realizada no mês de abril de 2024, na base de dados do Scientific Electronic Library Online (SciELO). O descritor utilizado foi: mulheres and hanseníase. Resultados: Ao todo, 19 artigos foram selecionados. A partir da análise realizada, optou-se por produzir três categorias temáticas (vulnerabilidade, corpo e estigma) para classificar o ponto central dos artigos escolhidos. Conclusão: Necessita-se de pesquisas que possam cada vez mais elucidar quais são as necessidades de mulheres com o diagnóstico ou em tratamento da hanseníase e pensar em políticas públicas, no gerenciamento e administração da enfermidade a partir da atenção primária.
Objective: To understand the vulnerabilities to which women with leprosy are exposed and the implications for both their health and their social, religious, political, and family life. Methodology: This is an integrative literature review. Data collection was conducted in April 2024 in the Scientific Electronic Library Online (SciELO) database. The descriptor used was women and leprosy. Results: In total, nineteen articles were selected. Based on the analysis conducted, it was decided to produce three thematic categories (vulnerability, body, and stigma) to classify the crucial point of the chosen articles. Conclusion: There is a need for research that can increasingly elucidate the needs of women diagnosed with or undergoing treatment for leprosy, and to consider public policies, management, and administration of the disease from primary care.
Objetivo: comprender las vulnerabilidades a las que están expuestas las mujeres con lepra y las implicaciones tanto para su salud como para su vida social, religiosa, política y familiar. Metodología: Se trata de una revisión integradora de la literatura. La recolección de datos se realizó en abril de 2024 en la base de datos de la Scientific Electronic Library Online (SciELO). El descriptor utilizado fue: mujeres y lepra. Resultados: En total, se seleccionaron diecinueve artículos. A partir del análisis realizado, se optó por producir tres categorías temáticas (vulnerabilidad, cuerpo y estigma) para clasificar el punto central de los artículos elegidos. Conclusión: Se necesitan investigaciones que puedan elucidar cada vez más cuáles son las necesidades de las mujeres con diagnóstico o en tratamiento de la lepra y considerar políticas públicas, así como la gestión y administración de la enfermedad desde la atención primaria.
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Direito SanitárioRESUMO
Physical mapping evidences the chromosome organization and structure. Despite the data about plant cytogenomics, physical mapping has been conducted from single-copy and/or low-copy genes for few species. Carica papaya cytogenomics has been accomplished from BAC-FISH and repeatome sequences. We aimed to map the serk 2, svp-like and mdar 4 sequences in C. papaya. The sequences were amplified and the amplicons sequenced, showing similarity in relation to serk 2, svp-like and mdar 4 genes. Carica papaya diploidy was confirmed and the mitotic chromosomes characterized. The chromosome 1 exhibited the secondary constriction pericentromeric to the centromere of the long arm. So, we concluded that it is the sex chromosomes. serk 2 was mapped in the long arm interstitial portion of the sex chromosomes, and the interphase nuclei showed two fluorescence signals. Considering these results and the sequencing data from the C. papaya sex chromosomes, svp-like and mdar 4 genes were mapped in the interstitial region of the sex chromosome long arm. Both sequences showed only one fluorescence signal in the interphase nuclei. The procedure adopted here can be reproduced for other single-copy and/or low-copy genes, allowing the construction of cytogenetic maps. In addition, we revisited the cytogenomics data about C. papaya sex chromosomes, presenting a revised point of view about the structure and evolution to these chromosomes.
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Carica , Cromossomos de Plantas , Cromossomos Sexuais , Carica/genética , Cromossomos de Plantas/genética , Cromossomos Sexuais/genética , Mapeamento Físico do Cromossomo , Hibridização in Situ Fluorescente/métodos , Proteínas de Plantas/genética , Mapeamento Cromossômico , Genes de PlantasRESUMO
Compared with full-term infants, preterm infants have fat-free mass deficit in the first months of life, which increases the risk of metabolic diseases in the future. In this cohort of children born under 32-week gestational age or less than 1500 g, we aimed to evaluate the associations of body composition at term equivalent age and in the first 3 months of life with fat-free mass and fat mass percentage at 4 to 7 years of life. Body composition assessments by air displacement plethysmography and anthropometry were performed at term, at 3 months of corrected age, and at 4 to 7 years of age. Multiple linear regression analysis was used to observe the associations between body composition at these ages. At term, fat mass percentage showed a negative association and fat-free mass a positive association with fat-free mass at 4 to 7 years. The fat-free mass at 3 months and the gain in fat-free mass between term and 3 months showed positive associations with fat-free mass at 4 to 7 years. Conclusion: Body composition at preschool age is associated with fat-free mass in the first 3 months of life, a sensitive period for the risk of metabolic diseases. What is Known: ⢠Preterm infants have a deficit in fat-free mass and high adiposity at term equivalent age compared to full-term infants. ⢠Fat-free mass reflects metabolic capacity throughout life and therefore is considered a protective factor against the risk of metabolic syndrome. What is New: â¢Fat-free mass gain in the first 3 months of corrected age is associated with fat-free mass at preschool and school ages. â¢The first 3 months of life is a sensitive period to the risk of metabolic diseases.
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Composição Corporal , Recém-Nascido Prematuro , Humanos , Feminino , Masculino , Pré-Escolar , Recém-Nascido Prematuro/crescimento & desenvolvimento , Recém-Nascido , Lactente , Criança , Estudos de Coortes , Adiposidade/fisiologia , Pletismografia , AntropometriaRESUMO
OBJECTIVE: To evaluate the growth trajectory of head circumference and neurodevelopment, and to correlate head circumference with cognitive, language, and motor outcomes during the first two years. METHOD: Prospective cohort study in a tertiary hospital including 95 newborns under 32 weeks or 1500 g. Neonates who developed major neonatal morbidities were excluded. The head circumference was measured at birth, at discharge, and at term-equivalent age, 1, 3, 5, 12, 18, and 24 months of corrected age, and the Bayley Scales (Bayley-III) were applied at 12, 18 and 24 months of corrected age to assess cognitive, language and, motor domains. Scores below 85 were classified as mild/moderate deficits and scores below 70 as severe deficits. The association between head circumference Z score and Bayley scores was assessed using Pearson's correlation. The study considered a significance level of 0.05. RESULTS: There was a decrease of -0.18 in the head circumference Z score between birth and discharge and the catch-up occurred between discharge and 1 month (an increase of 0.81 in the Z score). There was a positive correlation between head circumference and Bayley scores at 18 months. There was also a positive correlation between head circumference at discharge and at 5 months with the three domains of the Bayley. CONCLUSION: Serial measurements of head circumference provide knowledge of the trajectory of growth, with early catch-up between discharge and 1 month, as well as its association with neurodevelopment. Head circumference is therefore a valuable clinical marker for neurodevelopment, especially in very preterm newborns.
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Cefalometria , Desenvolvimento Infantil , Cabeça , Humanos , Recém-Nascido , Estudos Prospectivos , Cabeça/anatomia & histologia , Cabeça/crescimento & desenvolvimento , Masculino , Feminino , Desenvolvimento Infantil/fisiologia , Lactente , Pré-Escolar , Lactente Extremamente Prematuro/crescimento & desenvolvimento , Recém-Nascido Prematuro/crescimento & desenvolvimento , Idade Gestacional , Cognição/fisiologiaRESUMO
There is a lack of questionnaires specifically designed to assess social isolation in adolescents. We developed and validated a self-report measure of social isolation in adolescents, the Social Isolation Questionnaire (QIS). A literature review on social isolation and mental health in adolescents indicated 20 questions to form QIS. Two cross-sectional surveys with 48 and 1135 adolescents, respectively, evaluated the reproducibility and validity of QIS. The Bland-Altman plot did not indicate a systematic difference between measurements 15 days apart. Bartlett's sphericity test verified a correlation between the questions and the Kaiser-Meyer-Olkin test showed good adequacy (.896) to the factor analysis. Exploratory factor analysis suggested the exclusion of three questions (loading factors <0.3), and eigenvalues (4.9-0.8) indicated that the questionnaire should be composed of three factors (dimensions). The Cronbach's alpha indicated high internal consistency of the 17 questions (0.850 overall; Dimensions: 0.815 'feeling of loneliness'; 0.760 'friendship'; and, 0.680 'Family support'). The QIS score ranged from 0 to 131 (maximum social isolation score). The correlation between QIS and depressive symptoms (r = .543) indicated the construct validity of QIS. We evaluated QIS in the Portuguese version, thus translation and cultural adaptation are necessary to evaluate the questionnaire in other settings. We constructed and validated the QIS questionnaire, a self-administered questionnaire to assess social isolation in adolescents, composed of three dimensions; feelings of loneliness, friendship and family support. The QIS questionnaire seems a very promising tool to support practitioners and researchers in assessing social isolation among adolescents.
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Solidão , Psicometria , Isolamento Social , Humanos , Adolescente , Isolamento Social/psicologia , Feminino , Masculino , Inquéritos e Questionários/normas , Reprodutibilidade dos Testes , Estudos Transversais , Solidão/psicologia , Análise Fatorial , Autorrelato , Depressão/psicologia , Depressão/diagnósticoRESUMO
INTRODUCTION: The transfusion practice by surgery blood reserve, varied among services, must be performed through the rational and restrictive use of blood components because it is a scarce and expensive resource for health care services. OBJECTIVE: Analyze the use of blood products for surgery blood reserve by means of the study of the clinical-hematological profile of patients submitted to intraoperative and immediate postoperative transfusions. METHODS: This was an observational, cross-sectional, and retrospective study, conducted by collecting biological, operational, and laboratory variables, involving 680 patients at a university hospital who had elective surgery with surgery blood reserve request sent during the period from October 2021 to October 2022. RESULTS: The overall transfusion rate was 25.44%, and the mean preoperative hemoglobin level of transfused patients was 9.74 ± 2.50 g/dL, with the mean number of transfusions packed red blood cell units was 1.58 ± 0.77. Patients with higher preoperative hemoglobin levels were less likely to have transfusion (p < 0.001) and patients who had surgical oncologic were more likely to require transfusion (p = 0.048). The transfusion rate of packed red blood cells and platelets concentrates, compared to what was requested, was 15.86% and 5.82%. CONCLUSION: There is a tendency of transfusions to follow restrictive models, with higher transfusion probability in surgical oncologic. Furthermore, there should be more a conscise use of the surgery blood reserves request.
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Transfusão de Sangue , Hemoglobinas , Humanos , Estudos Transversais , Hemoglobinas/análise , Hospitais , Estudos Retrospectivos , BrasilRESUMO
BACKGROUND: Staphylococcus spp and Microsporum canis are zoonotic microorganisms which can cause infections and systemic diseases. The bone infection is usually caused by invasion of pathogen through the hematologic route. Mixed osteomyelitis caused by bacteria and fungi is rare, and to date, there have been no reports of mixed osteomyelitis with Staphylococcus spp. and Microsporum canis. CASE PRESENTATION: This essay reports an atypical presentation of mixed osteomyelitis (Staphylococcus spp. and Microsporum canis) in a domestic cat. A 15-month-old female Persian cat was presented to a veterinary service; the main complaint was the appearance of a nodule in the mandibular ventral rostral region. A radiographic exam performed on the animal showed proliferative and osteolytic bone lesions. The patient was submitted to a biopsy for histopathological evaluation, along with bacterial and fungal cultures. Results showed mixed osteomyelitis by Staphylococcus spp. and Microsporum canis. Microbial Sensitivity Test was performed to choose a more suitable treatment. Two surgical procedures were executed to resect and curette the lesion, and treatments with anti-inflammatory, antibiotic, and antifungal drugs were established, showing a positive clinical evolution. After 8 months of treatment, the patient's owner moved to a different city, and the animal was seen by other veterinarians, who followed along with the same treatment. However, due to complications and a diminishing quality of life over 4 years of diagnosis, the patient was euthanized. CONCLUSION: Given the above, mixed osteomyelitis is difficult to treat and can cause losses of life quality resulting death, especially in infections where M. canis is the agent causing the disease. Bacterial osteomyelitis is more frequently reported. But the lack of investigation of microorganisms other than bacteria, such as fungal cases, may imply in underdiagnosed cases. Treatment of osteomyelitis can be difficult considering the difficulties in isolating the pathological agent, resistance to the drug used, prolonged treatment time, and cost.
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Doenças do Gato , Dermatomicoses , Microsporum , Osteomielite , Gatos , Feminino , Animais , Dermatomicoses/veterinária , Qualidade de Vida , Antifúngicos/uso terapêutico , Osteomielite/tratamento farmacológico , Osteomielite/veterinária , Doenças do Gato/tratamento farmacológicoRESUMO
Purpose: To compare minor allele frequencies (MAFs) of psychiatric drug response variants in a Brazilian admixed cohort with global populations and other Brazilian groups. Methods: PharmGKB MAFs were gathered from publicly available genetic datasets for Brazil and worldwide. Results: Among 146 variants in CYP2D6 and CYP2C19, 41 were present in Brazil, mostly rare (MAF <1%). 11 variants showed significant MAF differences with large effect sizes compared with global populations. CYP2C19*3 (rs4986893), CYP2C19*17 (rs12248560), CYP2D6*17 (rs28371706-A) and CYP2D6*29 (rs61736512) exhibited higher frequencies in Brazil, with the latter three also differing from other Brazilian groups. Conclusion: This study highlights significant pharmacogenomic diversity in Brazil and globally, underscoring the need for more research in personalized psychiatric drug therapy.
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Citocromo P-450 CYP2D6 , Polimorfismo Genético , Humanos , Citocromo P-450 CYP2D6/genética , Citocromo P-450 CYP2C19/genética , Brasil , Farmacogenética , Genótipo , Frequência do Gene/genéticaRESUMO
OBJECTIVES: Periodontitis is a non-communicable disease (NCD) that may be linked to other NCDs through shared risk factors. Accordingly, we analyzed the relationship between periodontitis and behavioral and metabolic risks common to NCDs in Brazilian adults over three decades. METHODS: Indicators of periodontitis, behavioral risks (smoking, alcohol use, sugar-sweetened beverages (SSB), and physical activity), and metabolic risks (overweight/obesity, dyslipidemia, hyperglycemia, and hypertension) in Brazilian adults (25-49 y-old) between 1990 to 2019 were obtained from the Global Burden of Disease Study 2019. Data were adjusted for Gini index. Fixed-effects and Prais-Winsten regressions were performed (p < 0.05). RESULTS: The prevalence of periodontitis has increased among Brazilians since 2005. High-SSB diet, alcohol use, and metabolic risks increased between 1990-2019, whereas smoking decreased. In crude models, periodontitis prevalence increased with alcohol use (2545.1; 95%CI: 2307.9-2782.3), high-SSB diet (365.5; 95%CI: 322.5-408.4), low physical activity (1784.4; 95%CI: 763.7-2805.0), overweight/obesity (172.3; 95%CI: 156.3-188.4), dyslipidemia (734.5; 95%CI: 624.7-844.2), and hyperglycemia (1774.3; 95%CI: 1555.9-1992.7). After adjustment for the Gini index, periodontitis prevalence raised with a high-SBB diet (1416.0; 95%CI: 1120.2-1711.8), overweight/obesity (629.9; 95%CI: 573.1-686.8), dyslipidemia (2035.8; 95%CI: 1728.1-2343.5), and hyperglycemia (8918.1; 95%CI: 7979.8-9856.3). CONCLUSIONS: Periodontitis has increased in Brazil since 2005, despite the smoking reduction. Sugar-sweetened beverage was the behavioral risk that mostly accompanied the periodontal trend. CLINICAL RELEVANCE: Our results support upstream strategies targeting commercial, social, political, and structural determinants to tackle NCDs and reduce oral health inequities.
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Periodontite , Fatores de Risco , Adulto , Humanos , Brasil/epidemiologia , Dislipidemias/epidemiologia , Carga Global da Doença , Hiperglicemia/complicações , Obesidade/epidemiologia , Obesidade/etiologia , Sobrepeso/complicações , Sobrepeso/epidemiologia , Periodontite/epidemiologia , Periodontite/complicações , Pessoa de Meia-Idade , Bebidas Adoçadas com AçúcarRESUMO
The Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF) studies Latin American populations to benefit from the implementation of personalized medicine. Since 2006, it has studied ethnicity to apply pharmacogenetics knowledge in autochthonous populations of Latin America, considering ancestral medicine. The meeting 'Pharmacogenetics: ethnicity, Treatment and Health in Latin American Populations' was held in Mexico City, Mexico, and presented the relevance of RIBEF collaboration with Latin American researchers and the governments of Mexico, Spain and the Autonomous Community of Extremadura. The results of 17 years of uninterrupted work by RIBEF, the Declaration of Mérida/T'Hó and the call for the Dr José María Cantú Award for studies focused on the pharmacogenetics of native populations in Latin America were presented.
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Etnicidade , Farmacogenética , Humanos , Etnicidade/genética , América Latina/epidemiologia , México/epidemiologia , Farmacogenética/métodos , Medicina de PrecisãoRESUMO
In the Amazon, the treatment for Plasmodium vivax is chloroquine plus primaquine. However, this regimen is limited due to the risk of acute hemolytic anemia in glucose-6-phosphate dehydrogenase deficiency. Primaquine is a prodrug that requires conversion by the CYP2D6 enzyme to be effective against malaria. A series of cases were performed at an infectious diseases reference hospital in the Western Brazilian Amazon. The STANDARD G6PD (SD Biosensor®) assay was used to infer G6PD status and real-time PCR to genotype G6PD, CYP2C19, CYP2D6 and CYP3A4. Eighteen patients were included, of which 55.6% had African A- variant (G202A/A376G), 11.1% African A+ variant (A376G), 5.6% Mediterranean variant (C563T) and 27.8% were wild type. CYP2C19, CYP2D6 and CYP3A4 genotyping showed no statistically significant differences in the frequency of star alleles between the groups G6PD deficient and G6PD normal. Elevated levels of liver and kidney markers in the G6PDd patients were observed in gNM, gRM and gUM of CYP2C19 and CYP2D6 (p < 0.05). Furthermore, in this study there was no influence of CYPs on hemolysis. These findings reinforce the importance of studies on the mapping of G6PD deficiency and genetic variations of CYP2C19, CYP2D6 and CYP3A4. This mapping will allow us to validate the prevalence of CYPs and determine their influence on hemolysis in patients with malaria, helping to decide on the treatment regimen.
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Over the last decades, stable fly (Stomoxys calcitrans) outbreaks associated with agricultural and/or livestock production systems have become a serious problem in some Brazilian locations. This article presents a survey on the history, evolution and mapping of such outbreaks in Brazil over five decades (1971-2020). Outbreaks (n= 579) were recorded in 285 municipalities from 14 states, mainly associated with by-products from the ethanol industry (82.7%), in natura organic fertilizers (12.6%) and integrated crop-livestock systems (3.1%). Few cases were reported until the mid-2000s, progressively increasing since then. Outbreaks associated with ethanol mills occurred in 224 municipalities, mainly in Southeast and Midwest states, while those associated with organic fertilizers (mainly poultry litter and coffee mulch) affected 39 municipalities, mostly in the Northeast and Southeast states. More recently, outbreaks in integrated crop-livestock systems during the rainy season have occurred in Midwest states. This survey highlights the magnitude of the problem of stable fly outbreaks in Brazil and its relationship with environmental public policies, agricultural production chains and regional trends. Specific public actions and policies are urgently needed to prevent their occurrence and impact in the affected regions.
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Surtos de Doenças , Muscidae , Animais , Brasil/epidemiologia , Surtos de Doenças/veterinária , Estudos RetrospectivosRESUMO
Diploid and polyploid species derived from the euploid series x = 11 occur in the genus Psidium, as well as intraspecific cytotypes. Euploidy in the genus can alter the gene copy number, resulting in several "omics" variations. We revisited the euploidy, reported genomic (nuclear 2C value, GC%, and copy number of secondary metabolism genes) and epigenomic (5-mC%) differences in Psidium, and related them to essential oil yield and composition. Mean 2C values ranged from 0.90 pg (P. guajava) to 7.40 pg (P. gaudichaudianum). 2C value is intraspecifically varied in P. cattleyanum and P. gaudichaudianum, evidencing cytotypes that can be formed from euploid (non-reduced) and/or aneuploid reproductive cells. GC% ranged from 34.33% (P. guineense) to 48.95% (P. myrtoides), and intraspecific variations occurred even for species without 2C value intraspecific variation. Essential oil yield increased in relation to 2C value and to GC%. We showed that P. guajava (diploid) possesses two and P. guineense (tetraploid) four copies of the one specific TPS gene, as well as eight and sixteen copies respectively of the conserved regions that occur in eight TPS genes. We provide a wide "omics'' characterization of Psidium and show the outcome of the genome and epigenome variation in secondary metabolism.
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Óleos Voláteis , Psidium , Epigenômica , Genômica , PoliploidiaRESUMO
Coronavirus disease 2019 (COVID-19) is a systemic disease that impacts multiple organ systems with a complex clinical presentation and outcomes that can vary from person to person and between populations. To optimize COVID-19 treatment outcomes, and in light of the availability of antiviral drugs, there is a need for greater attention to the field of theranostics, the fusion of therapeutics and diagnostics. Theranostics tests would be invaluable, we suggest in this expert review, so as to optimize the efficacy and safety of current and future antiviral drugs against COVID-19. Theranostics would also assist in the design and implementation of clinical trials with antiviral drug candidates. We discuss here theranostics considering drugs such as remdesivir, Paxlovid™, and molnupiravir. All in all, we underscore that theranostics as a concept and practice is essential for efficient and safe health interventions against COVID-19 and other ecological crises in the 21st century.
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COVID-19 , Humanos , Antivirais/uso terapêutico , Medicina de Precisão , SARS-CoV-2 , Tratamento Farmacológico da COVID-19RESUMO
OBJECTIVES: Determine the frequency of actionable mutations in non-small cell lung cancer (NSCLC) and their correlation with overall survival (OS) and the site of metastases. METHODS: We performed a descriptive cross-sectional study at the Hospital de Especialidades Eugenio Espejo, Ecuador, between 2017 and 2020. Demographic, pathological, and molecular alterations in epidermal growth factor (EGFR), Anaplastic lymphoma kinase (ALK), ROS proto-oncogene 1 (ROS1), Programmed death-ligand 1 (PD-L1) expression, and clinical data detailed in patients' medical records with metastatic NSCLC were collected and analyzed. Seventy-nine stage IV patients had NSCLC; adenocarcinoma histology represents 56 (70.9%). The predominant mutation was in EGFR (22.8%); the most common variant was the deletion of exon 19 (72.2%). The most common metastatic site was in the contralateral lung (22.3%); however, this variable showed no significant correlation to the molecular markers (p=0.057). The overall survival (OS) and the status of molecular markers are not statistically significant (p=0.27). OS was better for non-mutated EGFR than for mutated EGFR (p=0.012). However, the frequency values are unrelated to contralateral lung metastasis or survival. CONCLUSIONS: Our frequency mutations are concordant with those found in other studies in Latin America. EGFR was the most common biomarker mutation, and there was a better OS in EGFR non-mutated patient.
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Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/patologia , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Proteínas Tirosina Quinases/genética , Estudos Transversais , Equador , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas/metabolismo , Mutação/genética , Receptores ErbB/genéticaRESUMO
Breast cancer was declared the most prevalent type of cancer in 2020. Among other factors, treatment response can be affected by genetic polymorphisms - which is the focus of pharmacogenetics - and ethnicity is also a contributing factor in this context. Relevant genes in disease treatment pathways were selected to evaluate treatment response from the pharmacogenetic perspective; polymorphism frequencies and ethnic and continental representation across the available literature were also assessed through a systematic review. The identified associations and gaps have been described in this study with the purpose that, in the future, treatments can be personalized and thus be more effective, safer, and accessible to all.
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Neoplasias da Mama , Humanos , Feminino , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/genética , Polimorfismo Genético/genética , Farmacogenética , EtnicidadeRESUMO
Over the last decades, stable fly (Stomoxys calcitrans) outbreaks associated with agricultural and/or livestock production systems have become a serious problem in some Brazilian locations. This article presents a survey on the history, evolution and mapping of such outbreaks in Brazil over five decades (1971-2020). Outbreaks (n= 579) were recorded in 285 municipalities from 14 states, mainly associated with by-products from the ethanol industry (82.7%), in natura organic fertilizers (12.6%) and integrated crop-livestock systems (3.1%). Few cases were reported until the mid-2000s, progressively increasing since then. Outbreaks associated with ethanol mills occurred in 224 municipalities, mainly in Southeast and Midwest states, while those associated with organic fertilizers (mainly poultry litter and coffee mulch) affected 39 municipalities, mostly in the Northeast and Southeast states. More recently, outbreaks in integrated crop-livestock systems during the rainy season have occurred in Midwest states. This survey highlights the magnitude of the problem of stable fly outbreaks in Brazil and its relationship with environmental public policies, agricultural production chains and regional trends. Specific public actions and policies are urgently needed to prevent their occurrence and impact in the affected regions.(AU)
Nas últimas décadas, surtos da mosca-dos-estábulos (Stomoxys calcitrans), associados a sistemas de produção agrícola e/ou pecuária, tornaram-se um grave problema em algumas localidades brasileiras. Este artigo apresenta um levantamento sobre a história, evolução e mapeamento desses surtos no Brasil ao longo de cinco décadas (1971-2020). Surtos (n= 579) foram registrados em 285 municípios de 14 estados, principalmente associados a subprodutos da indústria do etanol (82,7%), fertilizantes orgânicos in natura (12,6%) e sistemas de integração lavoura-pecuária (3,1%). Poucos casos foram registrados até meados dos anos 2000, aumentando progressivamente desde então. Surtos associados a usinas de etanol ocorreram em 224 municípios, principalmente no Sudeste e Centro-Oeste, enquanto surtos associados a fertilizantes orgânicos (principalmente esterco aviário e palha de café) afetaram 39 municípios, principalmente nos estados do Nordeste e Sudeste. Mais recentemente, surtos em sistemas de integração lavoura-pecuária, durante a estação chuvosa, têm ocorrido no Centro-Oeste. Este levantamento ressalta a magnitude do problema dos surtos da mosca-dos-estábulos no Brasil e sua relação com políticas públicas ambientais, cadeias produtivas agrícolas e tendências regionais. Ações e políticas públicas específicas são urgentemente necessárias para prevenir sua ocorrência e impacto nas regiões afetadas.(AU)