RESUMO
The phenotypic effect of perturbing a gene's activity depends on the activity level of other genes, reflecting the notion that phenotypes are emergent properties of a network of functionally interacting genes. In the context of cancer, contemporary investigations have primarily focused on just one type of functional relationship between two genes-synthetic lethality (SL). Here, we define the more general concept of "survival-associated pairwise gene expression states" (SPAGEs) as gene pairs whose joint expression levels are associated with survival. We describe a data-driven approach called SPAGE-finder that when applied to The Cancer Genome Atlas (TCGA) data identified 71,946 SPAGEs spanning 12 distinct types, only a minority of which are SLs. The detected SPAGEs explain cancer driver genes' tissue specificity and differences in patients' response to drugs and stratify breast cancer tumors into refined subtypes. These results expand the scope of cancer SPAGEs and lay a conceptual basis for future studies of SPAGEs and their translational applications.
Assuntos
Regulação Neoplásica da Expressão Gênica , Neoplasias/genética , Mutações Sintéticas Letais/genética , Antineoplásicos/farmacologia , Antineoplásicos/uso terapêutico , Carcinogênese/efeitos dos fármacos , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Genes Neoplásicos , Humanos , Neoplasias/tratamento farmacológico , Especificidade de Órgãos/genética , Análise de SobrevidaRESUMO
Soft tissue augmentation is widely used to enhance or improve a patient's appearance. Hyaluronic acid is considered to be one of the best fillers for cosmetic procedures, mainly because of its lack of immunogenicity. We report a case of a persistent inflammatory reaction to injectable hyaluronic acid gel used for the correction of melolabial folds.
Assuntos
Toxidermias/diagnóstico , Dermatoses Faciais/diagnóstico , Ácido Hialurônico/efeitos adversos , Envelhecimento da Pele , Diagnóstico Diferencial , Toxidermias/etiologia , Toxidermias/patologia , Dermatoses Faciais/induzido quimicamente , Dermatoses Faciais/patologia , Feminino , Géis , Humanos , Ácido Hialurônico/administração & dosagem , Injeções Subcutâneas , Pessoa de Meia-IdadeRESUMO
Congenital syphilis is a rare and serious disease that, although preventable, continues to be a major healthcare problem. Its clinical spectrum ranges from an asymptomatic infection to fulminating sepsis or death. A diagnosis of congenital syphilis was made in an 8-week-old infant whose mother had adequate prenatal care. We present the clinical and histopathologic findings of this uncommon congenital disease.
Assuntos
Sífilis Congênita/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Transmissão Vertical de Doenças Infecciosas , Masculino , Penicilinas/uso terapêutico , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Sífilis Congênita/tratamento farmacológicoRESUMO
Solar elastosis is a recognized manifestation of chronic sun exposure affecting mainly Caucasian skin. Recognizable clinical manifestations of solar elastosis include cutis rhomboidalis nuchae, Favre-Racouchot syndrome, actinic comedonal plaque, nodular forms such as elastomas, elastic nodule of the ear and elastotic bands, collagenous plaques of the hand, and colloid milia. We report two patients with an unusual presentation of vesicular lesions clinically and histopathologically situated in zones of severe solar elastosis that has been previously referred to as bullous solar elastosis.