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1.
J Pediatr Hematol Oncol ; 44(2): e546-e549, 2022 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-34966098

RESUMO

Eosinophilia is a rare presentation of acute lymphoblastic leukemia (ALL) within the pediatric population. In this report, we present a patient with pre-B ALL and eosinophilia in the setting of an isocitrate dehydrogenase-2 gene mutation. These mutations have been described in patients with acute myeloid leukemia but in very few patients with ALL.


Assuntos
Eosinofilia , Leucemia Mieloide Aguda , Leucemia-Linfoma Linfoblástico de Células Precursoras , Criança , Eosinofilia/genética , Humanos , Isocitrato Desidrogenase/genética , Leucemia Mieloide Aguda/genética , Mutação , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética
2.
Sci Rep ; 8(1): 10902, 2018 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-30026510

RESUMO

Despite major advances in targeted melanoma therapies, drug resistance limits their efficacy. Long noncoding RNAs (lncRNAs) are transcriptome elements that do not encode proteins but are important regulatory molecules. LncRNAs have been implicated in cancer development and response to different therapeutics and are thus potential treatment targets; however, the majority of their functions and molecular interactions remain unexplored. In this study, we identify a novel cytoplasmic intergenic lincRNA (MIRAT), which is upregulated following prolonged MAPK inhibition in NRAS mutant melanoma and modulates MAPK signaling by binding to the MEK scaffold protein IQGAP1. Collectively, our results present MIRAT's direct modulatory effect on the MAPK pathway and highlight the relevance of cytoplasmic lncRNAs as potential targets in drug resistant cancer.


Assuntos
Resistencia a Medicamentos Antineoplásicos , GTP Fosfo-Hidrolases/genética , Melanoma/genética , Proteínas de Membrana/genética , Mutação , RNA Longo não Codificante/genética , Proteínas Ativadoras de ras GTPase/genética , Linhagem Celular Tumoral , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Humanos , Sistema de Sinalização das MAP Quinases , Inibidores de Proteínas Quinases/farmacologia , Análise de Sequência de RNA , Bibliotecas de Moléculas Pequenas/farmacologia , Regulação para Cima
3.
J Proteome Res ; 14(1): 512-20, 2015 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-25338220

RESUMO

Proteomics of human milk has been used to identify the comprehensive cargo of proteins involved in immune and cellular function. Very little is known about the effects of gestational diabetes mellitus (GDM) on lactation and breast milk components. The objective of the current study was to examine the effect of GDM on the expression of proteins in the whey fraction of human colostrum. Colostrum was collected from women who were diagnosed with (n = 6) or without (n = 12) GDM at weeks 24-28 in pregnancy. Colostral whey was analyzed for protein abundances using high-resolution, high-mass accuracy liquid chromatography tandem mass spectrometry. A total of 601 proteins were identified, of which 260 were quantified using label free spectral counting. Orthogonal partial least-squares discriminant analysis identified 27 proteins that best predict GDM. The power law global error model corrected for multiple testing was used to confirm that 10 of the 27 proteins were also statistically significantly different between women with versus without GDM. The identified changes in protein expression suggest that diabetes mellitus during pregnancy has consequences on human colostral proteins involved in immunity and nutrition.


Assuntos
Biomarcadores/metabolismo , Colostro/química , Diabetes Gestacional/metabolismo , Proteoma/metabolismo , Proteínas do Soro do Leite/análise , Cromatografia Líquida , Feminino , Humanos , Análise dos Mínimos Quadrados , Gravidez , Proteômica/métodos , Espectrometria de Massas em Tandem
4.
JAMA Dermatol ; 151(1): 51-8, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25188246

RESUMO

IMPORTANCE: Airline pilots and cabin crew are occupationally exposed to higher levels of cosmic and UV radiation than the general population, but their risk of developing melanoma is not yet established. OBJECTIVE: To assess the risk of melanoma in pilots and airline crew. DATA SOURCES: PubMed (1966 to October 30, 2013), Web of Science (1898 to January 27, 2014), and Scopus (1823 to January 27, 2014). STUDY SELECTION: All studies were included that reported a standardized incidence ratio (SIR), standardized mortality ratio (SMR), or data on expected and observed cases of melanoma or death caused by melanoma that could be used to calculate an SIR or SMR in any flight-based occupation. DATA EXTRACTION AND SYNTHESIS: Primary random-effect meta-analyses were used to summarize SIR and SMR for melanoma in any flight-based occupation. Heterogeneity was assessed using the χ2 test and I2 statistic. To assess the potential bias of small studies, we used funnel plots, the Begg rank correlation test, and the Egger weighted linear regression test. MAIN OUTCOMES AND MEASURES: Summary SIR and SMR of melanoma in pilots and cabin crew. RESULTS: Of the 3527 citations retrieved, 19 studies were included, with more than 266 431 participants. The overall summary SIR of participants in any flight-based occupation was 2.21 (95% CI, 1.76-2.77; P < .001; 14 records). The summary SIR for pilots was 2.22 (95% CI, 1.67-2.93; P = .001; 12 records). The summary SIR for cabin crew was 2.09 (95% CI, 1.67-2.62; P = .45; 2 records). The overall summary SMR of participants in any flight-based occupation was 1.42 (95% CI, 0.89-2.26; P = .002; 6 records). The summary SMR for pilots was 1.83 (95% CI, 1.27-2.63, P = .33; 4 records). The summary SMR for cabin crew was 0.90 (95% CI, 0.80-1.01; P = .97; 2 records). CONCLUSIONS AND RELEVANCE: Pilots and cabin crew have approximately twice the incidence of melanoma compared with the general population. Further research on mechanisms and optimal occupational protection is needed.


Assuntos
Melanoma/epidemiologia , Doenças Profissionais/epidemiologia , Neoplasias Cutâneas/epidemiologia , Aeronaves , Aviação , Radiação Cósmica/efeitos adversos , Humanos , Incidência , Modelos Lineares , Melanoma/etiologia , Doenças Profissionais/etiologia , Exposição Ocupacional/efeitos adversos , Risco , Neoplasias Cutâneas/etiologia , Raios Ultravioleta/efeitos adversos
5.
J Hum Lact ; 30(2): 180-9, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24423984

RESUMO

BACKGROUND: Although it is well established that human milk varies widely in macronutrient content, it remains common for human milk fortification for premature infants to be based on historic mean values. As a result, those caring for premature infants often underestimate protein intake. Rapid precise measurement of human milk protein, fat, and lactose to allow individualized fortification has been proposed for decades but remains elusive due to technical challenges. OBJECTIVE: This study aimed to evaluate the accuracy and precision of a Fourier transform (FT) mid-infrared (IR) spectroscope in the neonatal intensive care unit to measure human milk fat, total protein, lactose, and calculated energy compared with standard chemical analyses. METHODS: One hundred sixteen breast milk samples across lactation stages from women who delivered at term (n = 69) and preterm (n = 5) were analyzed with the FT mid-IR spectroscope and with standard chemical methods. Ten of the samples were tested in replicate using the FT mid-IR spectroscope to determine repeatability. RESULTS: The agreement between the FT mid-IR spectroscope analysis and reference methods was high for protein and fat and moderate for lactose and energy. The intra-assay coefficients of variation for all outcomes were less than 3%. CONCLUSION: The FT mid-IR spectroscope demonstrated high accuracy in measurement of total protein and fat of preterm and term milk with high precision.


Assuntos
Alimentos/classificação , Unidades de Terapia Intensiva Neonatal , Leite Humano/enzimologia , Testes Imediatos/normas , Espectroscopia de Infravermelho com Transformada de Fourier/normas , Fatores de Tempo , Gorduras na Dieta , Proteínas Alimentares , Feminino , Humanos , Leite Humano/microbiologia , Gravidez , Espectroscopia de Infravermelho com Transformada de Fourier/métodos
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