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1.
Am J Med Genet A ; 164A(10): 2482-9, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24700551

RESUMO

Ectodermal dysplasias (EDs) comprise a large clinically and etiologically heterogeneous group of genetic disorders characterized by abnormalities in tissues derived from the embryonic ectoderm. Controversy exists over which syndromes should be classified as EDs and which should be excluded from the classification. The challenge will be to balance comprehensiveness within the classification with usability and accessibility so that the benefits truly serve the needs of researchers, health-care providers, and ultimately the individuals and families directly affected by EDs. The overarching goal of the Second International Conference was to develop a consensus on EDs classifications, with the ultimate goal of creating a system that integrates clinical and molecular knowledge, using an interactive Internet-based database that clinicians, researchers, and laymen can use. The Conference, brought together a group of experts from around the world, including a diverse health-care providers, researchers, patient advocate representatives, and administrators. The Conference was modeled after the 2008 conference, with plenary sessions, scientific updates, and small group discussions. Based on the present clinical knowledge, new molecular advances and both coupled with new bioinformatics developments, the participants agree to develop a multi-axis system approach for the classification of EDs. The multi-axis approach will include a clinical/phenotype axis, a gene-based axis, and a functional/pathways axis. The significance of the conference outcomes includes, a new classification approach that will foster a better understanding of EDs, open new fields of research and develop a nosologic approach that may have broad implications for classifying other hereditary conditions.


Assuntos
Displasia Ectodérmica/genética , Displasia Ectodérmica/patologia , Biologia Computacional/métodos , Humanos , Fenótipo , Pesquisa , Transdução de Sinais/fisiologia
2.
J Med Food ; 12(4): 893-901, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19735192

RESUMO

Interest exists in the manufacture of meat products with added functional ingredients to enhance consumer health. Because experimental evidence suggests that many herbs and spices, particularly those of the Lamiaceae family such as Salvia officinalis L. (sage) and Origanum vulgare L. (oregano), possess a wide range of biological and pharmacological activities, they represent promising functional ingredients for incorporation into meat and meat products. The present study aimed to determine the bioactivity of cooked beef patties that were enriched with or without sage or oregano extracts (1,200 microg/g). Cooked beef patties were subjected to an in vitro digestion procedure, and the resulting micelles isolated from the digested meats were added to human intestinal Caco-2 cells. The antioxidant potential (ferric reducing antioxidant power [FRAP] value) of enriched beef patties was significantly higher than the FRAP value of non-enriched beef patties, both before and after in vitro digestion. Cell viability significantly increased following treatment with certain concentrations of the micelle fractions from digested sage- or oregano-enriched beef patties. Pretreatment with micelles derived from sage- or oregano-enriched beef patties did not significantly protect against cell injury or DNA damage induced by H(2)O(2). However, micelles derived from digested sage-enriched beef patties (10% vol/vol) significantly increased cellular reduced glutathione (GSH) content. In addition, micelles derived from both sage- and oregano-enriched beef patties (10% vol/vol) significantly protected against H(2)O(2)-induced GSH depletion. Thus, it appears that sage and oregano exhibit some bioactivity within a meat system. Our findings suggest that herbal extracts have potential as possible functional ingredients in meat products.


Assuntos
Antioxidantes/farmacologia , Glutationa/metabolismo , Carne , Origanum , Extratos Vegetais/farmacologia , Salvia officinalis , Células CACO-2 , Sobrevivência Celular/efeitos dos fármacos , Dano ao DNA/efeitos dos fármacos , Humanos , Peróxido de Hidrogênio , Micelas , Especiarias
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