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1.
Molecules ; 26(19)2021 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-34641307

RESUMO

Over 15 years, with the support of a Canadian funding agency, the Universidad Mayor de San Simón, in Bolivia, undertook a large survey of aromatic plants of the South American country. More than a hundred species were studied under various aspects, including the production and characterization of essential oils. As part of this survey, the chemical composition of an essential oil sample obtained from Pentacalia herzogii (Asteraceae) growing wild in the High Valley region of the department of Cochabamba was determined by a combination of GC and GC-MS measurements. α-Pinene was the main constituent of this essential oil (34%), accompanied by limonene (22%) and germacrene D (7.5%) as well as an important fraction of methoxylated monoterpenoids. They were mainly isomers of thymol methyl ether, accounting for 13% of the chromatogram. A new quantitatively important compound (9%) was identified through NMR and chemical synthesis as 4-isopropyl-6-methylbenzo[d][1,3]dioxole, and designated herzogole, alongside the minor related compound 1-isopropyl-2,3-dimethoxy-5-methylbenzene. The monoterpene benzodioxole featured a distinctive green-phenolic aroma which could raise interest for fragrance use. Since these compounds were not known naturally, a biosynthetic mechanism of their formation was proposed and put in perspective to illustrate the metabolic originality of P. herzogii.


Assuntos
Asteraceae/química , Benzodioxóis/isolamento & purificação , Óleos Voláteis/análise , Monoterpenos Bicíclicos/isolamento & purificação , Cromatografia Gasosa-Espectrometria de Massas , Limoneno/isolamento & purificação , Monoterpenos/isolamento & purificação , Óleos Voláteis/química , Componentes Aéreos da Planta/química , Óleos de Plantas/análise , Óleos de Plantas/química , Sesquiterpenos de Germacrano/isolamento & purificação
2.
Neuromuscul Disord ; 31(1): 52-55, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33303358

RESUMO

Neutral lipid storage disease with myopathy is an ultra-rare, inherited autosomal recessive neuromuscular metabolic disorder caused by pathogenic variants in PNPLA2. It typically presents in adults as a progressive myopathy and is associated with myocardiopathy, hepatic involvement, and high creatine kinase levels. Only three children and adolescents with neutral lipid storage disease with myopathy have been reported. We report a female infant with congenital hypotonia born to consanguineous parents, whose mother presented with polyhydramnios during pregnancy. She demonstrated delayed acquisition of motor milestones, hepatomegaly, and elevated creatine kinase levels. Homozygous pathogenic variants in PNPLA2 were identified. Lipid accumulation was observed within the muscle fibers and Jordans' anomaly was observed in a blood smear. This is the first report to describe an infant with mildly symptomatic neutral lipid storage disease with myopathy and demonstrate hepatic involvement in a pediatric patient. Despite her mild symptoms, her ancillary test results were markedly abnormal.


Assuntos
Hepatomegalia/etiologia , Erros Inatos do Metabolismo Lipídico/diagnóstico , Hipotonia Muscular/etiologia , Doenças Musculares/diagnóstico , Adulto , Pré-Escolar , Feminino , Humanos , Lactente , Erros Inatos do Metabolismo Lipídico/patologia , Masculino , Doenças Musculares/patologia , Mutação , Linhagem , Adulto Jovem
3.
Hum Mutat ; 40(7): 842-864, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30882951

RESUMO

Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited lysosomal storage disorders. GNPTAB and GNPTG encode the α/ß-precursor and the γ-subunit of N-acetylglucosamine (GlcNAc)-1-phosphotransferase, respectively, the key enzyme for the generation of mannose 6-phosphate targeting signals on lysosomal enzymes. Defective GlcNAc-1-phosphotransferase results in missorting of lysosomal enzymes and accumulation of non-degradable macromolecules in lysosomes, strongly impairing cellular function. MLII-affected patients have coarse facial features, cessation of statural growth and neuromotor development, severe skeletal abnormalities, organomegaly, and cardiorespiratory insufficiency leading to death in early childhood. MLIII alpha/beta and MLIII gamma are attenuated forms of the disease. Since the identification of the GNPTAB and GNPTG genes, 564 individuals affected by MLII or MLIII have been described in the literature. In this report, we provide an overview on 258 and 50 mutations in GNPTAB and GNPTG, respectively, including 58 novel GNPTAB and seven novel GNPTG variants. Comprehensive functional studies of GNPTAB missense mutations did not only gain insights into the composition and function of the GlcNAc-1-phosphotransferase, but also helped to define genotype-phenotype correlations to predict the clinical outcome in patients.


Assuntos
Mucolipidoses/genética , Mutação , Transferases (Outros Grupos de Fosfato Substituídos)/genética , Éxons , Humanos , Íntrons , Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/classificação , Doenças por Armazenamento dos Lisossomos do Sistema Nervoso/genética , Mucolipidoses/classificação , Fenótipo , Prognóstico , Domínios Proteicos , Transferases (Outros Grupos de Fosfato Substituídos)/química
4.
NOVA publ. cient ; 11(20): 97-119, jul.-dic. 2013. ilus, tab
Artigo em Espanhol | LILACS, COLNAL | ID: lil-729518

RESUMO

Colombia ha sido recientemente definida como uno de los países con mayor inequidad, marcada con desigualdades y brechas socioeconómicas muy amplias, situación que exige que urgentemente se busquen herramientas de cohesión social, que permitan mejorar la calidad de vida de la población, y que a la vez, permitan enfrentar los retos de la globalización, mediante la integración a un mundo que cada vez es más heterogéneo. En este contexto, la cohesión social es relevante y se determina como el diálogo constante entre la exclusión y la inclusión social, determinada por características particulares como el empleo, el bienestar y la salud, entre otros aspectos, que dan cuenta de una adecuada calidad de vida para los individuos, de forma que se sienta una pertenencia a la sociedad. Frente a esta necesidad, se requiere que los países se preocupen por hacer valer los principios de equidad, desarrollo social, gobernabilidad y Estado Social de derecho. En consonancia con loa anterior, en este artículo se hace una revisión sistemática sobre la incidencia de la pobreza como factor de riesgo en la calidad de la salud, especialmente referida a la desnutrición, como elementos que deben ser mejorados para empezar a pensar en cohesión social. Surge como antecedentes en el desarrollo del proyecto de investigación “Intervención de la pobreza mediante la aplicación de un modelo de emprendimiento”.


Colombia has recently been defined as one of the countries with great inequity, marked with inequalities and very extensive socioeconomic gaps, a situation that requires to urgently look for tools of social cohesion that allow Colombians to improve the quality of life for the population and, at the same time, to meet the challenges of globalization, through the integration to a world that is becoming increasingly heterogeneous. Within this context, social cohesion is relevant and is determined as the constant dialog between the exclusion and social inclusion, as determined by particular characteristics such as employment, welfare, and health among others that give an account of an adequate quality of life for individuals, so that there is a feeling of belonging to society. In response to this need, it is required that the countries worry about upholding the principles of equity, social development, governance, and a social state of law. Consequently, this article makes a systematic review of the incidence of poverty as a risk factor in the quality of health care, especially referring to malnutrition, as an item that should be improved to start thinking about social cohesion. It arises from the search for background on the development of the research project "Intervention of poverty through the application of a model of entrepreneurship".


Assuntos
Humanos , Pobreza , Qualidade de Vida
5.
NOVA publ. cient ; 9(16): 188-208, jul.-dic. 2011. graf
Artigo em Espanhol | LILACS | ID: lil-638318

RESUMO

El presente artículo responde a la necesidad de cubrir espacios de intervención en el manejo de los residuos en PYMES productoras de residuos peligrosos, mediante la aplicación de estrategias de prevención, centradas en la aplicación de un modelo educativo que genere beneficios económicos, sociales y al medio ambiente. La intervención para la solución de esta debilidad se presenta desde la integración y trabajo mancomunado universidad empresa, con el aporte significativo de cada uno de los escenarios, representados en el conocimiento y capacidad de investigación que caracteriza a la universidad como constructora del conocimiento y la empresa como agente relevante en el ciclo económico y productivo.


Assuntos
Gestão Ambiental , Gerenciamento de Resíduos , Desenvolvimento Sustentável , Ecologia , Planejamento Socioeconômico , Resíduos Perigosos
6.
Rev. GASTROHNUP ; 13(1, Supl.1): S71-S82, ene.-abr. 2011. tab, ilus
Artigo em Espanhol | LILACS | ID: lil-645142

RESUMO

El propósito de este artículo es describir la importancia del examen neurológico de rutina del RN a término, las características normales y anormales de la evaluación neurológica neonatal e ilustrar la importancia de estas características en el comprendimiento del desarrollo y la enfermedad neurológica.


The purpose of the following article is to describe what a routine neurological evaluation in the fullterm neonate should consist, it's normal and abnormal features and to illustrate the importance of these features in the understanding of neurological development and disease.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Exame Neurológico/métodos , Neurologia/métodos , Reflexo/fisiologia , Tono Muscular/fisiologia
8.
J Chromatogr A ; 1054(1-2): 211-5, 2004 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-15553146

RESUMO

High-performance liquid chromatography (HPLC)-diode array detection (DAD)-mass spectrometry (MS) techniques have been successfully employed in the identification of the anthocyanins of the coloured tubers of isla oca (Oxalis tuberosa), the second most cultivated tuber in the Andean region. Tubers underwent a pre-treatment step in order to inhibit enzymatic reactions and to obtain a stable powder or "concentrate". This concentrate was dissolved, purified and then analysed. Eight different compounds were found. The major peaks were malvidin glucosides (malvidin 3-O-glucoside and 3,5-O-diglucoside). The rest of the peaks were 3,5-O-diglucosides of petunidin and peonidin, and 3-O-glucosides of delphinidin, petunidin and peonidin. Only malvidin 3-O-acetylglucoside-5-O-glucoside was found as an acylated anthocyanin.


Assuntos
Antocianinas/análise , Cromatografia Líquida de Alta Pressão/métodos , Magnoliopsida/química , Espectrometria de Massas/métodos
9.
Anesthesiology ; 99(4): 969-75, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14508333

RESUMO

BACKGROUND: The clinical efficacy of the noncompetitive N-methyl-d-aspartate receptor antagonist ketamine for treating orofacial pain has already been reported. Side effects related to psychotomimetic disturbances, however, limit ketamine use as an analgesic. Theoretically, this limitation could be minimized by using low doses of ketamine in combination with other analgesics. In the present study, the potential synergistic antinociceptive interaction between ketamine and morphine in the orofacial capsaicin test in rats was investigated. METHODS: Male Sprague-Dawley rats were subcutaneously injected with solvent, ketamine, morphine, or combination of both drugs. Thirty minutes later, the orofacial capsaicin test was performed by injecting of 1.5 microg/25 microl of a capsaicin solution into the vibrissa pad. Animal behavior was recorded on videotape and analyzed off-line. The total time spent on rubbing-scratching nociceptive behavior during a period of 42 min was measured. RESULTS: Subcutaneously administered ketamine (0.4, 1.25, 4, 12.5 mg/kg), morphine (0.5, 1, 2, 4 mg/kg) and ketamine + morphine (0.20 + 0.12, 0.40 + 0.24, 0.80 + 0.49, 1.61 + 0.97, 3.21 + 1.94 mg/kg) reduced the rat facial rubbing-scratching behavior in a dose-dependent manner. Isobolographic analysis showed that the ketamine + morphine association inhibited the studied behavior in a superadditive manner. CONCLUSIONS: These results indicate that ketamine and morphine have antinociceptive effects on the orofacial capsaicin test. Furthermore, their combination produces synergistic antinociception. It is therefore suggested that, used together, ketamine and morphine might be clinically efficient at lower doses than those currently used when administered separately. This could provide a useful strategy for the clinical management of orofacial pain.


Assuntos
Analgésicos/uso terapêutico , Dor Facial/tratamento farmacológico , Ketamina/uso terapêutico , Morfina/uso terapêutico , Medição da Dor/efeitos dos fármacos , Analgésicos/farmacologia , Animais , Capsaicina/toxicidade , Relação Dose-Resposta a Droga , Sinergismo Farmacológico , Quimioterapia Combinada , Dor Facial/induzido quimicamente , Ketamina/farmacologia , Masculino , Morfina/farmacologia , Medição da Dor/métodos , Ratos , Ratos Sprague-Dawley
10.
Life Sci ; 73(13): 1667-81, 2003 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-12875899

RESUMO

Fifty-four different extracts of nine Bolivian plants belonging to the family Asteraceae were evaluated for their radical scavenging activity by the DPPH*, NBT/hypoxanthine superoxide, and (*)OH/luminol chemiluminescence methods, and for their antioxidant activity by the beta-carotene bleaching test. The total phenolic content was also determined by the Folin-Ciocalteu method, and the oxidative stability by the Rancimat test. Both remarkably high phenolic content and radical scavenging and antioxidant activities were found mainly in the ethyl acetate fractions among the different plant extracts. Some ethyl acetate and even some defatted crude extracts exhibited activities comparable to those of commercial extracts/compounds, thus making it possible to consider some of the studied plants as a potential source of antioxidants of natural origin.


Assuntos
Antioxidantes/análise , Asteraceae/química , Sequestradores de Radicais Livres/análise , Extratos Vegetais/química , Bolívia , Hidroxianisol Butilado/análise , Medições Luminescentes , Luminol , Fenol/análise , Quercetina/análise
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