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Rev. cuba. pediatr ; 91(1): e441, ene.-mar. 2019. tab, graf
Artigo em Espanhol | LILACS (Américas) | ID: biblio-985592


Introducción: Existen pocas investigaciones sobre factores de riesgo de tumores renales pediátricos. Objetivo: Caracterizar en detalle regiones geográficas de alta incidencia de tumores renales pediátricos en el centro de Argentina y su posible vinculación con factores de riesgo genéticos. Métodos: El área de estudio comprendió la provincia de Córdoba (Argentina). Se generó una base de datos de incidencia del cáncer renal infantil con información del Registro Provincial de Tumores. Se realizaron análisis de conglomerados espaciotemporales. En localidades dentro de los conglomerados, se llevaron a cabo entrevistas en profundidad a informantes claves. Resultados: Se registraron 56 casos de tumores renales pediátricos en el Registro en el periodo 2004-2013. Se detectó un conglomerado espacial significativo que abarca siete departamentos de la provincia. En esa región se concretaron seis entrevistas en profundidad a informantes claves. Los entrevistados resaltaron la mayor frecuencia de enfermedad genética de Sandhoff y las prácticas de endogamia (corroboradas en numerosos resultados científicos). A partir de estos datos se determinaron zonas de superposición de tumores renales y de la enfermedad de Sandhoff. Conclusiones: Se detectó una región particular de la provincia con alta frecuencia de tumores renales pediátricos y de la enfermedad de Sandhoff. Numerosos estudios científicos determinan que la endogamia es el factor de riesgo que aumenta la frecuencia de esta enfermedad en esta región. En futuras investigaciones se deberá corroborar si la endogamia también actúa aumentando la incidencia de tumores renales infantiles(AU)

Introduction: There is little research on risk factors of pediatric renal tumors. Objective: To characterize in detail the geographic regions of greatest incidence of pediatric renal tumors in central Argentina and exploring their possible link to genetic risk factors. Methods: The study area comprised the province of Córdoba (Argentina), and a database of pediatric renal tumors incidence was generated with information from the Provincial Tumor Registry. Analyses of spatio-temporal clusters were performed. In-depth interviews with key informants were carried out at localities within the conglomerates. Results: 56 cases of pediatric renal tumors were registered in the Provincial Registry of Tumors between 2004 and 2013. A significant spatial conglomerate was detected, covering seven districts of the province. In that region, six in-depth interviews were conducted with key informants. Interviewees highlighted the increased frequency of Sandhoff genetic disease and endogamous practices (corroborated in numerous scientific results). From these data, zones of overlap of renal tumors and of Sandhoff disease were determined. Conclusions: A particular region of the province was detected with high frequency of pediatric renal tumors and Sandhoff disease. Numerous scientific studies have determined that endogamy is the risk factor that increases the frequency of Sandhoff disease in this region. In future research, it should be confirmed whether it also acts by increasing the incidence of renal tumors in children(AU)

Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Consanguinidade , Predisposição Genética para Doença/etiologia , Neoplasias Renais/complicações , Neoplasias Renais/epidemiologia , Argentina , Conglomerados Espaço-Temporais , Neoplasias Renais/genética
Braz. j. med. biol. res ; 47(9): 727-737, 09/2014. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: lil-719316


Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), is a chronic disorder that affects thousands of people around the world. These diseases are characterized by exacerbated uncontrolled intestinal inflammation that leads to poor quality of life in affected patients. Although the exact cause of IBD still remains unknown, compelling evidence suggests that the interplay among immune deregulation, environmental factors, and genetic polymorphisms contributes to the multifactorial nature of the disease. Therefore, in this review we present classical and novel findings regarding IBD etiopathogenesis. Considering the genetic causes of the diseases, alterations in about 100 genes or allelic variants, most of them in components of the immune system, have been related to IBD susceptibility. Dysbiosis of the intestinal microbiota also plays a role in the initiation or perpetuation of gut inflammation, which develops under altered or impaired immune responses. In this context, unbalanced innate and especially adaptive immunity has been considered one of the major contributing factors to IBD development, with the involvement of the Th1, Th2, and Th17 effector population in addition to impaired regulatory responses in CD or UC. Finally, an understanding of the interplay among pathogenic triggers of IBD will improve knowledge about the immunological mechanisms of gut inflammation, thus providing novel tools for IBD control.

Animais , Humanos , Trato Gastrointestinal/microbiologia , Predisposição Genética para Doença/etiologia , Interações Hospedeiro-Patógeno/imunologia , Doenças Inflamatórias Intestinais/etiologia , Microbiota/imunologia , Interação Gene-Ambiente , Mucosa Intestinal/imunologia , Mucosa Intestinal/microbiologia , Microbiota/genética , Polimorfismo Genético
Rev. méd. Chile ; 140(11): 1457-1463, nov. 2012. ilus
Artigo em Espanhol | LILACS (Américas) | ID: lil-674014


Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia. Colonoscopy detected multiple sessile polyps and a cecal carcinoma. The patient was operated and in the surgical piece, the tumor invaded serosa and there was lymph node involvement. Approximately 100 polyps were found. The patient received 5-fluorouracil, as adjuvant therapy. The patient had a sister (of a total of 12 brothers) with a colorectal carcinoma. The genetic study identified a homozygous mutation of the MUTYH gene, called c.340T > C, that produces an amino acid change of tyrosine for histidine called p.Y114H. The sister with colorectal cancer was a heterozygous carrier of this mutation.

Adulto , Feminino , Humanos , Polipose Adenomatosa do Colo/genética , DNA Glicosilases/genética , Mutação em Linhagem Germinativa/genética , Predisposição Genética para Doença/etiologia , Homozigoto , Linhagem , Reação em Cadeia da Polimerase