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1.
Nat Med ; 30(4): 990-1000, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38605166

ABSTRACT

Children with rare, relapsed or refractory cancers often face limited treatment options, and few predictive biomarkers are available that can enable personalized treatment recommendations. The implementation of functional precision medicine (FPM), which combines genomic profiling with drug sensitivity testing (DST) of patient-derived tumor cells, has potential to identify treatment options when standard-of-care is exhausted. The goal of this prospective observational study was to generate FPM data for pediatric patients with relapsed or refractory cancer. The primary objective was to determine the feasibility of returning FPM-based treatment recommendations in real time to the FPM tumor board (FPMTB) within a clinically actionable timeframe (<4 weeks). The secondary objective was to assess clinical outcomes from patients enrolled in the study. Twenty-five patients with relapsed or refractory solid and hematological cancers were enrolled; 21 patients underwent DST and 20 also completed genomic profiling. Median turnaround times for DST and genomics were within 10 days and 27 days, respectively. Treatment recommendations were made for 19 patients (76%), of whom 14 received therapeutic interventions. Six patients received subsequent FPM-guided treatments. Among these patients, five (83%) experienced a greater than 1.3-fold improvement in progression-free survival associated with their FPM-guided therapy relative to their previous therapy, and demonstrated a significant increase in progression-free survival and objective response rate compared to those of eight non-guided patients. The findings from our proof-of-principle study illustrate the potential for FPM to positively impact clinical care for pediatric and adolescent patients with relapsed or refractory cancers and warrant further validation in large prospective studies. ClinicalTrials.gov registration: NCT03860376 .


Subject(s)
Hematologic Neoplasms , Neoplasms , Adolescent , Child , Humans , Precision Medicine , Prospective Studies , Feasibility Studies , Neoplasms/genetics , Neoplasms/therapy
2.
Res Dev Disabil ; 143: 104620, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37918177

ABSTRACT

BACKGROUND: Local political discord together with isolation and fear marked the COVID-19 pandemic in Brazil. AIMS: To determine the prevalence of anxiety and depression symptoms and analyze adult quality of life (QoL) during the pandemic in four groups: "childless", "children without mental problems", "children with autism" and "children with other mental problems." METHODS AND PROCEDURES: A sample of 867 individuals recruited using social media in northeastern Brazil completed the following instruments: the Hospital Anxiety and Depression Scale (HADS, Brazilian version), the WHOQOL-Bref, and a sociodemographic form OUTCOMES AND RESULTS: The mean score for depression was significantly higher in the "children with autism" group compared to the other groups. The mean anxiety score was significantly higher in the "children with autism" and "childless" groups. Mean QoL scores were lower in the "children with autism" group compared to the other groups for all the domains, with this difference being statistically significant compared with the "children without mental problems" group for all the domains. CONCLUSIONS AND IMPLICATIONS: Anxiety and depression symptoms were greater and QoL scores were lower in parents of children with autism. All groups benefitted from logistic support during the pandemic, whereas having to care for others negatively impacted QoL.


Subject(s)
Autistic Disorder , Quality of Life , Child , Adult , Humans , Pandemics , Depression/epidemiology , Depression/diagnosis , Autistic Disorder/epidemiology , Surveys and Questionnaires , Parents , Anxiety/epidemiology , Anxiety/diagnosis
3.
Genes (Basel) ; 14(6)2023 05 27.
Article in English | MEDLINE | ID: mdl-37372352

ABSTRACT

Trichopoda pennipes is a tachinid parasitoid of several significant heteropteran agricultural pests, including the southern green stink bug, Nezara viridula, and leaf-footed bug, Leptoglossus phyllopus. To be used successfully as a biological control agent, the fly must selectively parasitize the target host species. Differences in the host preference of T. pennipes were assessed by assembling the nuclear and mitochondrial genomes of 38 flies reared from field-collected N. viridula and L. phyllopus. High-quality de novo draft genomes of T. pennipes were assembled using long-read sequencing. The assembly totaled 672 MB distributed among 561 contigs, having an N50 of 11.9 MB and a GC of 31.7%, with the longest contig at 28 MB. The genome was assessed for completeness using BUSCO in the Insecta dataset, resulting in a score of 99.4%, and 97.4% of the genes were single copy-loci. The mitochondrial genomes of the 38 T. pennipes flies were sequenced and compared to identify possible host-determined sibling species. The assembled circular genomes ranged from 15,345 bp to 16,390 bp and encode 22 tRNAs, two rRNAs, and 13 protein-coding genes (PCGs). There were no differences in the architecture of these genomes. Phylogenetic analyses using sequence information from 13 PCGs and the two rRNAs individually or as a combined dataset resolved the parasitoids into two distinct lineages: T. pennipes that parasitized both N. viridula and L. phyllopus, and others that parasitized only L. phyllopus.


Subject(s)
Diptera , Genome, Mitochondrial , Heteroptera , Animals , Genome, Mitochondrial/genetics , Phylogeny , Agriculture
5.
Rev. bras. cineantropom. desempenho hum ; 24: e89769, 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1407278

ABSTRACT

Abstract Infrared thermography (IRT) has been used to assess skin temperature (Tsk), especially during the COVID-19 pandemic, as an important tool in medical screening not only of the general population, but also of young athletes. However, the subcutaneous adipose tissue can act as an insulator when the Tsk is assessed by IRT, modifying the normal Tsk data and leading to their misinterpretation. Considering that the body mass index (BMI) is an important predictor of obesity, the objective of this study was to verify if the Tsk measured by IRT is affected by the BMI in adolescents. A preliminary study was carried out being four participants intentionally selected, all 16 years old, each one classified in a different BMI range according to the criteria of the World Health Organization for the adolescent population: underweight, healthy weight, overweight and obesity. Four thermograms of each participant were recorded and the ThermoHuman® software was used to evaluate 82 regions of interest (ROI), which were integrated into 6 body regions. Using healthy weight subjects as a reference, it was found a progressive reduction in Tsk in all ROI compared to overweight and obese participants, with emphasis on the anterior region of the trunk (3.04% and 6.69% less respectively), and an increase in the Tsk of all body regions for the underweight subject. There are indications that BMI can influence the Tsk value in adolescents and should be taken into account when analyzing thermograms for a correct evaluation of thermal normality.


Resumo A termografia infravermelha (TI) tem sido uma técnica empregada para avaliar a temperatura da pele (TP), especialmente durante a pandemia do COVID-19. Contudo, existem indicações que o tecido adiposo subcutâneo pode agir como uma camada isolante, alterando o comportamento da TP, o que pode dificultar a interpretação da normalidade térmica. Tendo em vista que o índice de massa corporal (IMC) é considerado um importante preditor de obesidade, o objetivo deste estudo foi verificar se a TP sofre interferência de diferentes classificações de IMC em adolescentes. Foram selecionados 4 participantes de maneira intencional, todos com 16 anos, cada um foi classificado em uma diferente faixa de IMC para população de adolescentes segundo a classificação proposta pela Organização Mundial de Saúde para essa idade: baixo peso, peso normal, sobrepeso e obesidade. Foram feitos quatro termogramas, avaliados no software ThermoHuman®, que avalia 82 regiões corporais de interesse (RCI), que foram integradas em 6 regiões corporais. Utilizando os indivíduos com peso normal como referência, foi encontrada uma redução progressiva na TP comparada aos participantes com sobrepeso e obesidade, com ênfase para a região anterior de tronco (3.04% e 6.69% menores, respectivamente), e um aumento na TP de todas as regiões corporais comparadas ao sujeito com baixo peso. Isso indica que o IMC pode influenciar nos valores da TP em adolescentes e deve ser levado em consideração para uma avaliação correta da normalidade térmica.

6.
J Sports Med Phys Fitness ; 61(7): 928-934, 2021 Jul.
Article in English | MEDLINE | ID: mdl-33337109

ABSTRACT

BACKGROUND: This study evaluated the effects of two types of energy drinks (ED) intake in trained runners. METHODS: A double-blind randomized placebo-controlled clinical trial was conducted over 6 weeks. Participants and beverages were allocated by randomization. Twelve men 23±2.6 years, 177±3.4 cm, 74.4±5.5 kg, VO2max=59.8±5.5 mL·(kg.min)-1] ingested either a conventional energy drink containing carbohydrates and 3 mg·kg-1 of caffeine, (ED1), a sugar-free energy drink 3 mg·kg-1 of caffeine (ED2), or a carbohydrate-containing, decaffeinated placebo (PL) 40-minutes before an exercise protocol. Sprint time, rate of perceived exertion (RPE), respiratory exchange ratio (RER), blood pressure (BP), heart rate and plasmatic glucose were evaluated during the experimental protocol. RESULTS: Performance improved after consuming both ED (P<0.004 ED1 and P=0.001 ED2) with lower RPE (P<0.05 for ED1 and P<0.05 for ED2) compared to PL. Consumption of ED2 decreased RER values at 0-5 minutes and 40-45 minutes (P<0.001), and ED1 increased systolic BP (P<0.05) during exercise compared to PL. There were no differences in the evaluated parameters between EDs (P>0.05). CONCLUSIONS: Consumption of conventional or sugar free ED represents a valid ergogenic strategy to improve acute performance with reduction of RPE. However, intake of a conventional ED warrants caution, mainly because the effects on systolic BP.


Subject(s)
Energy Drinks , Performance-Enhancing Substances , Caffeine , Cross-Over Studies , Double-Blind Method , Heart Rate , Humans , Male
7.
J. Phys. Educ. (Maringá) ; 30: e3033, 2019. tab, graf
Article in Portuguese | LILACS | ID: biblio-1012500

ABSTRACT

RESUMO O objetivo do estudo foi verificar se bebidas enegéticas com diferentes composições nutricionais afetam o balanço hidro-eletrolítico de corredores de resistência. Doze homens participaram desse estudo duplo cego e crossover randomizado, ingerindo 3mg.kg-1 de cafeína de bebida energética convencional e sugar free, e um placebo carboidratado e não cafeinado, 40 minutos antes de sessão de exercício em ambiente termoneutro. Em cada situação experimental, os avaliados realizaram exercício de corrida em esteira com duração de 60 minutos e intensidade constante entre 65 e 75% do VO2max, seguidos por um sprint correspondendo a 100% do VO2max até a exaustão. Foram avaliados o peso corporal (PC), desidratação absoluta e relativa, densidade da urina, taxa de sudorese e níveis de Na+, K+ e hematócrito. Durante o exercício os avaliados receberam somente água a cada 15 minutos. Foi verificada alteração nos níveis de densidade da urina antes e depois do exercício para todos os tratamentos (p<0,05). Não houve diferença significativa entre as bebidas nos níveis de Na+, K+ e hematócrito (p>0,05) mantendo-se dentro dos níveis de normalidade. Conclui-se que diferentes tipos de bebidas energéticas não afetam o balanço hidro-eletrolítico de corredores de resistência ao longo do exercício.


ABSTRACT This work compares the effects promoted by energy drinks with diferente nutricional compositions on the hydro-electrolytic balance of resistance runners. Twelve men participated in this double blinded, randomized crossover study, ingesting 3mg*Kg-1 of a conventional energy drink with caffeine or sugar-free, and a placebo 40-minutes before tests on thermoneutral environment. The duration of the session was 60 minutes with constant intensity between 65 and 75% of VO2max, followed by a sprint corresponding to 100% of VO2max until exhaustion. There were evaluated body weight (BW), absolute and relative dehydration, urine density, sweating rate and Na+, K+ and hematocrit levels. During the exercise, the participants drunk only water every 15 minutes. Changes in urine density levels were observed before and after exercise for all procedures (p <0.05). There was no significant difference on the levels of Na+, K+ and hematocrit between the drinks (p> 0.05), remaining within normal levels. It is concluded that different types of energy drinks do not affect the hydro-electrolytic balance of resistance runners during the exercise.


Subject(s)
Humans , Male , Young Adult , Energy Drinks , Walk Test , Taurine , Caffeine , Diuresis
8.
Braspen J ; 32(3): 209-213, jul-set. 2017.
Article in Portuguese | LILACS | ID: biblio-906146

ABSTRACT

Introdução: Diante da importância do desenvolvimento de protocolos seguros de avaliação nutricional em unidades hospitalares que atendam pacientes infectados pelo HIV, o objetivo deste trabalho é avaliar e comparar o diagnóstico nutricional realizado pela Avaliação Nutricional Subjetiva Global (ANSG), parâmetros antropométricos e laboratoriais, em pacientes com HIV/AIDS. Método: Estudo transversal com 70 pacientes HIV/AIDS admitidos em um hospital público de referência em Goiânia, GO. O estado nutricional foi avaliado por meio da avaliação nutricional subjetiva global, antropometria (índice de massa corporal, circunferência braquial, circunferência muscular do braço e dobra cutânea triciptal) e parâmetros laboratoriais (albumina, colesterol total e contagem de linfócitos T). Resultados: As prevalências de desnutrição verificadas por meio da avaliação nutricional subjetiva global, índice de massa corporal, circunferência braquial, circunferência muscular do braço, dobra cutânea triciptal, albumina, colesterol total e contagem de linfócitos T foram de 74,3%, 25,7%, 75,7%, 62,9%, 74,3%, 85,3%, 72,3% e 62,9%, respectivamente.Verificou-se associação positiva entre a ANSG e o perfil antropométrico e laboratorial. Conclusões: A ANSG associou-se a indicadores antropométricos e laboratoriais em pacientes infectados pelo HIV. Confirmou-se também a sua capacidade preditiva, na medida em que identificou pacientes com maior gravidade clínica conforme os níveis de células TCD4.Estes resultados fomentam os níveis de evidências que apontam a ANSG como um método confiável e adequado para o diagnóstico, acompanhamento e intervenção nutricional nesses pacientes.(AU)


Introduction: In view of the importance of developing safe protocols for nutritional evaluation in hospital units that treat HIV-infected patients, the objective of this study is to evaluate and compare the nutritional diagnosis performed by Nutritional Subjective Global Assessment (NSGA), anthropometric and laboratory parameters, in patients with HIV / AIDS admitted in a public reference hospital in Goiânia, GO. Methods: A cross-sectional study was conducted with 70 HIV / AIDS patients admitted to a public referral hospital in Goiânia, Goiás. Nutritional status was evaluated through global subjective nutritional assessment, anthropometry (body mass index, arm circumference, arm circumference and Triceps skin fold) and laboratory parameters (albumin, total cholesterol and T lymphocyte counts). Results: The prevalence of malnutrition, measured by global subjective nutritional assessment, body mass index, arm circumference, arm circumference, triceps skinfold, albumin, total cholesterol and T lymphocyte counts were 74.3%, 25.7%, 75.7%, 62.9%, 74.3%, 85.3%, 72.3% and 62.9%, respectively. There was a positive association between the NSGA and the anthropometric and laboratory profile. Conclusions: NSGA was associated with anthropometric and laboratory indicators in patients infected with HIV. Its predictive capacity was also confirmed, in that it identified patients with greater clinical severity according to the levels of CD4 T cells. These results promote the levels of evidence that point to ANSG as a reliable and adequate method for diagnosis, follow-up and nutritional intervention in these patients.(AU)


Subject(s)
Humans , Nutrition Assessment , Nutritional Status , Acquired Immunodeficiency Syndrome , Cross-Sectional Studies/instrumentation , Malnutrition
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