RESUMO
We describe Hb Alcorn County, a heterozygous hemoglobin (Hb) variant, in a 6-month-old Hispanic male and his mother. DNA sequencing demonstrated a mutation on the HBB gene [ß40(C6)ArgâThr; HBB: c.122G>C (p.Arg41Thr)], predictive of a substitution of arginine to threonine at position 40 of the ß-globin protein. This amino acid substitution involves the α1ß2 contact and occurs at the same position as Hb Austin [ß40(C6)ArgâSer; HBB: c.[123G>C or 123G>T] (p.Arg41Ser)] and Hb Athens-GA [ß40(C6)ArgâLys; HBB: c.122G>A (p.Arg41Lys)], both of which show increased oxygen affinity.
Assuntos
Alelos , Substituição de Aminoácidos , Mutação , Oxigênio/metabolismo , Globinas beta/genética , Globinas beta/metabolismo , Cromatografia Líquida de Alta Pressão , Análise Mutacional de DNA , Predisposição Genética para Doença , Genótipo , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Hemoglobinopatias/metabolismo , Humanos , Lactente , Masculino , Fenótipo , Ligação Proteica , Globinas beta/análiseRESUMO
As the COVID-19 pandemic progresses, awareness of uncommon presentations of the disease increases. Such is the case with pneumothorax and pneumomediastinum. Recent evidence suggested that these can occur in the context of COVID-19 pneumonia, even in the absence of mechanical ventilation-related barotrauma. We present two patients with COVID-19 pneumonia complicated by pneumomediastinum. The first patient was a 55-year-old woman who developed COVID-19 pneumonia. Her clinical course was complicated by pneumothorax and pneumomediastinum, and, unfortunately, she died 2 days following the admission. The second patient was a 31-year-old man who developed a small pneumomediastinum and was managed conservatively. He had a spontaneous resolution of the pneumomediastinum and was discharged 19 days later. None of our patients required invasive or noninvasive positive pressure ventilation. We performed a literature review of COVID-19 pneumonia cases that developed pneumothorax, pneumomediastinum, or both. The analysis showed that the latter had high mortality (60%). Thus, it is necessary to pay attention to these complications as early identification and management can reduce the associated morbidity and mortality.
Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Enfisema Mediastínico/etiologia , Pneumonia Viral/complicações , Pneumotórax/etiologia , Adulto , COVID-19 , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , SARS-CoV-2RESUMO
Fibrous hamartoma of infancy (FHI) is a benign mesenchymal tumor histologically characterized by a mixture of intersecting fascicles of fibroblasts/myofibroblasts in collagenous stroma, nests of primitive oval or stellate cells in basophilic mucoid stroma, and mature adipose tissue. We hypothesized that FHI, because of histologic overlap with mesenchymal overgrowth tumors seen in CLOVES (Congenital Lipomatous Overgrowth with Vascular, Epidermal, Skeletal anomalies) and Proteus syndromes, may harbor mutations in signaling pathways associated with cellular proliferation. Formalin-fixed paraffin-embedded material from a discovery set of 4 cases of FHI was investigated by targeted next-generation sequencing of a panel of cancer-associated genes. The results were confirmed by targeted Sanger sequencing of EGFR exon 20. A validation set of 8 cases of FHI and 10 cases of other pediatric fatty tumors were investigated by targeted Sanger sequencing of EGFR exon 20. All 12 cases of FHI, and none of the 10 control tumors, showed EGFR exon 20 insertion/duplication mutations. This is the first report of molecular aberrations in FHI. The consistent occurrence of EGFR exon 20 insertion/duplication mutations in 100% of cases of FHI studied suggests that they must play a principal role in the pathogenesis of FHI, likely by conferring a potential for growth and local infiltration. Although surgical treatment will remain the mainstay of FHI treatment, tyrosine kinase inhibitors may have an adjunctive role in cases that are difficult to resect.
Assuntos
Éxons , Duplicação Gênica , Genes erbB-1 , Hamartoma/genética , Mutagênese Insercional , Estudos de Casos e Controles , Pré-Escolar , Feminino , Marcadores Genéticos , Hamartoma/diagnóstico , Hamartoma/patologia , Humanos , Lactente , Masculino , Análise de Sequência de DNARESUMO
Resumen Introducción. En Colombia el almidón de Canna indica L. se extrae por métodos artesanales, pero se desconoce si estos influyen en sus propiedades físico químicas. Objetivo. Evaluar el efecto de dos métodos de extracción del almidón de Canna indica L. sobre sus propiedades físico químicas. Materiales y métodos. Se extrajo el almidón por licuado y por rallado, y se evaluó su índice de absorción de agua, solubilidad en agua, poder de hinchamiento, temperatura de gelatinización (TG) y viscosidad en buffer a diferente pH. También se determinó su calidad composicional y la del rizoma. Se empleó un diseño completamente al azar, y el análisis de los datos de las características químicas del almidón se hizo por comparación de medias de dos poblaciones normales con t student (P <0.05). Resultados. Se observó que la viscosidad en medios ácidos y la TG del almidón extraído por el método rallado fue mayor (75.6 ± 1.91 ° C), comparado con el almidón extraído por licuado (62.08 ± 1.83 ° C) (p ≤ 0.05). Conclusión. El almidón extraído por rallado soporta mayor temperatura y tolera mejor los medios ácidos, lo que demuestra que el tratamiento físico del almidón influye en las propiedades TG y la resistencia del almidón a la acidez.
Abstract Introduction. In Colombia the starch of Canna indica L. is extracted by artisan methods, but it is unknown if this influences its physical and chemical properties. Objective. Evaluate the effect of the two methods of extraction of Canna starch indicates L. on its physical and chemical properties. Materials and methods. The starch was extracted by liquefying and by scratching, and its water absorption index, water solubility, swelling power, the gelatinization temperature (TG) and viscosity in buffer at different pH were evaluated. Also, its compositional quality and that of the rhizome were determined. A completely random design was used, and the analysis of the data on the chemical characteristics of the starch was made by comparing the means of two normal populations with student t (P <0.05). Results. It was observed that the viscosity in acid media and the TG of the starch extracted by the striped method were higher (75.6 ± 1.91 ° C) compared to the starch extracted by liquefying (62.08 ± 1.83 ° C) (p ≤ 0.05). Conclusion. The starch extracted by scratching endures higher temperature and better tolerates acidic media, which shows that the physical treatment of starch influences the TG properties and the resistance of starch to acid.
Resumo Introdução. Na Colômbia o amido da Canna indica L. é extraído pelos métodos artesanais, mas é desconhecido se estes influenciam nas suas propriedades físico-químicas. Objetivo. Avaliar o efeito de dois métodos de extração do amido da Canna indica L. sobre a suas propriedades físico-químicas. Materiais e métodos. Foi extraído o amido pela liquefação e pelo ralagem, e foi avaliado seu índice de absorção da água, solubilidade em água, o poder de inchamento, a temperatura de gelatinização (TG) e a viscosidade em tampão a diferentes pH. Também foi determinada a sua qualidade composicional e a do rizoma. Empregou-se um desenho completamente aleatório, e o análise dos dados das características químicas do amido se realizou pela comparação de médias das duas populações normais com o t student (P ≤0.05). Resultados. Observou-se que a viscosidade em médios ácidos e a TG do amido extraído pelo método de ralagem foi maior (75.6 ± 1.91 ° C), comparado com o amido extraído pela liquefação (62.08 ± 1.83 ° C) (p ≤ 0.05). Conclusão. O amido extraído pelo ralagem suporta maior temperatura e tolera melhor os médios ácidos, demostrando que o tratamento físico do amido influencia nas propriedades TG e a resistência do amido à acidez.
RESUMO
Taking into account the environmental persistence and the toxicity of DDT, the Pan American Health Organization (PAHO) organized a surveillance program in Mesoamerica which included the detection of residual DDT in environmental (soil) and biological samples (fish tissue and children's blood). This program was carried out in communities from Mexico, Guatemala, El Salvador, Honduras, Nicaragua, Costa Rica and Panama. This paper presents the first report of that program. As expected, the results show that the levels for [summation operator] DDT in soil (outdoor or indoor) and fish samples in the majority of the locations studied are below guidelines. However, in some locations, we found children with high concentrations of DDT as in Mexico (mean level 50.2 ng/mL). Furthermore, in some communities and for some matrices, the DDT/DDE quotient is higher than one and this may reflect a recent DDT exposure. Therefore, more efforts are needed to avoid exposure and to prevent the reintroduction of DDT into the region. In this regard it is important to know that under the surveillance of PAHO and with the support of UNEP, a regional program in Mesoamerica for the collection and disposal of DDT and other POPs stockpiles is in progress.
Assuntos
DDT/análise , DDT/metabolismo , Exposição Ambiental/análise , Monitoramento Ambiental/métodos , Poluentes Ambientais/análise , Poluentes Ambientais/metabolismo , Animais , América Central , Criança , Pré-Escolar , DDT/sangue , Poluentes Ambientais/sangue , Peixes/metabolismo , Humanos , México , Solo/análiseRESUMO
Los retardantes de flama bromados han sido muy usados en las últimas décadas en muchos productos de consumo. Su producción, uso, lipofilicidad y persistencia, los han vuelto contaminantes ambientales ubicuos. Han sido detectados en el ser humano en varios países y poco se conoce sobre susefectos tóxicos. El propósito de este estudio fue determinar de manera preliminar los niveles de exposición a difeniléteres polibromados (PBDEs) en la población mexicana. Se tomaron muestras de sangre a 5 mujeres de una zona urbana y muestras de leche materna a 7 de una zona rural. Los niveles de PBDEs en las mujeres de la zona urbana fueron de 21.5-37.5 ng/glípido y los de las mujeres rurales fueron 0.8-5.4 ng/g lípido.
The brominated flame retardants have been used in the last decades inmany products. Their production, use, lipofilicity and persistence, make them ubiquituos in the environment. They have been detected in humans in several countries and little is known about their toxics effects. The aim of this pilot study was to determine exposure levels of polybrominated diphenylethers (PBDEs) in the Mexican population, blood samples were taken from five women living in an urban area, whereas breast milk samples were collected from seven rural women. The levels of PBDEs in theurban area were 21.5-37.5 ng/g lipid; whereas milk concentrations in rural women were 0.8-5.4 ng/glipid.