Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 5 de 5
Filtrar
Mais filtros










Filtros aplicados

Base de dados
Intervalo de ano de publicação
1.
Rev. esp. enferm. dig ; 110(3): 204-206, mar. 2018. ilus
Artigo em Espanhol | IBECS | ID: ibc-171527

RESUMO

La adenomatosis hepática es una enfermedad benigna definida por la aparición de múltiples adenomas en un hígado normal. Se trata de una entidad poco frecuente y de causa no conocida, de la que existen menos de un centenar de casos publicados en la literatura médica y que se ha relacionado con la toma de anticonceptivos orales o esteroides anabolizantes, con enfermedades por depósito y con mutaciones genéticas asociadas a la diabetes mellitus tipo MODY (maturity onset diabetes of the young). En los últimos años se ha comunicado la coexistencia de adenomatosis hepática con lesiones de esteatohepatitis no alcohólica en dos pacientes con síndrome metabólico, una asociación de interés por la creciente prevalencia de la enfermedad hepática grasa no alcohólica en los países desarrollados y por la posibilidad de que compartan un mecanismo causal. Comunicamos el caso de una mujer joven con fructosemia familiar y esteatosis hepática durante cuyo seguimiento aparecieron múltiples adenomas hepáticos asociados a lesiones de esteatohepatitis y discutimos el posible significado de dicha asociación (AU)


Hepatic adenomatosis is a benign disease defined as the presence of multiple adenomas in a normal liver. It is an uncommon condition and there are less than a hundred reported cases in the literature. The etiology is unknown, although it has been associated with the use of oral contraceptives, anabolic steroids, certain storage diseases and some genetic mutations linked to maturity onset diabetes of the young. The coexistence of hepatic adenomatosis and nonalcoholic steatohepatitis has been recently described in two patients suffering from metabolic syndrome. This association is particularly interesting due to the growing prevalence of nonalcoholic fatty liver disease in developed countries and the possibility of a common causal pathway. We report the case of a young woman with fructosemia and hepatic steatosis; multiple hepatic adenomas associated to steatohepatitis lesions were also found during clinical follow-up. The possible implications are discussed (AU)


Assuntos
Humanos , Feminino , Adulto , Hepatopatia Gordurosa não Alcoólica/complicações , Adenoma de Células Hepáticas/complicações , Frutose/sangue , Mutação/genética , Predisposição Genética para Doença , Fator 1-alfa Nuclear de Hepatócito/genética
2.
J. physiol. biochem ; 70(3): 781-789, sept. 2014.
Artigo em Inglês | IBECS | ID: ibc-127322

RESUMO

MicroRNAs (miRNAs) are noncoding RNAs involved in the regulation of the diverse biological processes such as metabolism, proliferation, and cell cycle, in addition to regulation of differentiation. So far, some miRNAs have been recognized to have important role in regulating hepatic functions. Statistically, let-7f has been revealed as a negative regulator of hepatic differentiation. In the present study, we investigated the effect of let-7f on hepatic differentiation of human adipose tissue-derived stem cells (hADSCs). hADSCs were transduced with recombinant lentivirus containing human inhibitor let-7 f. The expression of hepatocyte nuclear factors alpha (HNF4a), albumin (ALB), alpha fetoprotein (AFP), cytokeratin 18 (CK18), and cytokeratin 19 (CK19) was evaluated using quantitative real-time PCR (qRT-PCR). Immunocytochemistry was used to investigate the expression levels of the hepatocyte markers including ALB, AFP, and HNF4a, and biochemical analysis was implemented for hepatic function, glycogen deposition, and urea secretion. qRT-PCR showed significant upregulation in HNF4a, ALB, AFP, CK18, and CK19 expression in cells transduced with let-7f inhibitor lentiviruses. Moreover, positive staining was detected for ALB, AFP, and HNF4a using immunocytochemistry. Urea production and glycogen deposits were also found in the treated cells, the two specific features of the hepatic cells. Therefore, let-7f silencing led to the increased expression of the hepatocyte-specific factors and the accelerated hADSCs hepatic differentiation. Summing all these finding together, our present report has provided evidences that inhibition of let-7f would facilitate induction of hADSCs into hepatocyte-like cells and possibly in regenerative therapy of the liver disease in a wider spectrum


No disponible


Assuntos
Humanos , Tecido Adiposo/citologia , Células-Tronco/fisiologia , Diferenciação Celular/fisiologia , MicroRNAs , Fibronectinas , Fator 1-alfa Nuclear de Hepatócito , alfa-Fetoproteínas , Queratinas , Albuminas , Diferenciação Celular
3.
Endocrinol. nutr. (Ed. impr.) ; 58(7): 341-346, ago.-sept. 2011. tab
Artigo em Inglês | IBECS | ID: ibc-93167

RESUMO

La diabetes tipo MODY (del inglés maturity onset diabetes of the young) constituye un grupo de patologías bien definidas y caracterizadas por su aparición antes de los 25 años, herencia autosómica dominante y por el hecho de que no precisan un tratamiento con insulina (al menos, inicialmente) para evitar la formación de cuerpos cetónicos. A pesar de la importancia de una clasificación precisa del paciente diabético, no siempre resulta sencillo clasificar el diagnóstico de un paciente joven con diabetes, y los estudios genéticos, a menudo, se usan de forma inadecuada. Métodos Se describen las características clínicas de pacientes cuyo estudio para MODY2 y MODY3 resultó negativo, y se comparan con las características de pacientes con resultado de estudio positivo. Resultados Todos los pacientes con MODY3 habían sido diagnosticados antes de los 25 años de edad y requerían algún tratamiento farmacológico para controlar la glucemia. Los pacientes con MODY2 fueron diagnosticados a partir de la primera analítica realizada, bien de forma accidental o dentro de un contexto de cribado de diabetes gestacional. La descripción clínica de los 19 pacientes cuyo estudio para MODY2 y MODY3 resultó negativo, mostró que sólo dos pacientes presentaban un cuadro clínico compatible con MODY3 y solo un paciente con MODY2.ConclusionesLas características clínicas pueden ser utilizadas para excluir el diagnóstico de MODY2 y MODY3, y ello puede reducir la necesidad de estudios genéticos (AU)


MODY (maturity onset diabetes of the young) is a group of well-defined diseases clinically characterised by onset before age 25 years that does not require insulin treatment (at least initially)to prevent the formation of ketone bodies and autosomal dominant inheritance. Despite the importance of accurate classification, it is not always simple to catalogue the diagnosis of a young patient with diabetes, and genetic studies are often improperly used. Methods: We describe the clinical features of patients negative for MODY2 and MODY3 and compared them to patients positive for these subtypes. Results: All patients with MODY3 had been diagnosed before age 25 years and required drug therapy for blood glucose control. MODY2 patients were diagnosed at the first laboratory workup either incidentally or as part of gestational diabetes screening. The clinical description of the19 patients negative for MODY2 and MODY3 showed that only two patients presented a clinical picture consistent with MODY3 and one patient with MODY2.Conclusions: Clinical features can be used for early exclusion of a MODY2 or MODY3 diagnosis and may reduce the need for genetic testing (AU)


Assuntos
Humanos , Diabetes Mellitus/fisiopatologia , Hipoglicemiantes/uso terapêutico , Fator 1-alfa Nuclear de Hepatócito/análise , Marcadores Genéticos
4.
Rev. esp. pediatr. (Ed. impr.) ; 66(6): 385-387, nov.-dic. 2010. tab
Artigo em Espanhol | IBECS | ID: ibc-92177

RESUMO

La diabetes MODY (maturity onset diabetes of the Young) tipo 3 es una de las diabetes monogénicas y está causada por mutaciones en los genes del factor nuclear hepático 1 alfa (HNF1-α). Presentamos el caso de una niña de 6 años remitida para estudio de hiperglucemia, sin síntomas cardinales de diabetes tipo 1, y con antecedentes de diabetes en las dos generaciones anteriores. En el test de sobrecarga oral de glucosa (SOG) se objetivan cifras en rango diabético, hecho por frecuente una edad tan temprana. Se inicia tratamiento con insulina en un principio, y posteriormente con antidiabéticos orales, para disminuir el riesgo de afectación microvascular, que en la MODY tipo 3 es tan alto como en la diabetes tipo 1 (AU)


MODY diabetes (maturity onset diabetes of the yong), type 3, is one of the monogenic diabetes. It is caused by mutations in the hepatocyte nuclear factor (HNF)-q (alpha) gene mutations. We present the case of a 6 year old girl referred for a hyperglycemia study, with no core symptoms of type 1 diabetes, and with a background of diabetes in the two previous generations. In the glucose overload test (GOT), values were observed within the diabetic range, a rare event at such a young age. Treatment was initiated with insulin in the beginning and them with oral antidiabetics, to decrease the risk of microvascular involvement, which is as high as in type 1 diabetes in type 3 MODY (AU)


Assuntos
Humanos , Feminino , Criança , Diabetes Mellitus/genética , Hiperglicemia/diagnóstico , Fator 1-alfa Nuclear de Hepatócito/genética , Teste de Tolerância a Glucose
5.
Endocrinol. nutr. (Ed. impr.) ; 57(1): 4-8, ene. 2010. tab
Artigo em Inglês | IBECS | ID: ibc-81244

RESUMO

Objective: The aim of our study was to describe and evaluate the clinical and metabolic characteristics of patients with MODY-3, MODY-2 or type 2 diabetes who presented I27L polymorphism in the HNF1α gene. Methods: The study included 31 previously diagnosed subjects under follow-up for MODY-3 (10 subjects from 5 families), MODY-2 (15 subjects from 9 families), or type 2 diabetes (6 subjects) with I27L polymorphism in the HNF1α gene. The demographic, clinical, metabolic, and genetic characteristics of all patients were analyzed. Results: No differences were observed in distribution according to sex, age of onset, or form of diagnosis. All patients with MODY-2 or MODY-3 had a family history of diabetes. In contrast, 33.3% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1α gene had no family history of diabetes (p < 0.05). No differences were observed in body mass index, prevalence of hypertension, or microvascular or macrovascular complications. Drug therapy was required by 100% of MODY-3 patients, but not required by 100% of MODY-2 patients or 16.7% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1α gene (p < 0.05). Conclusions: Occasional difficulties may be encountered when classifying patients with MODY-2, MODY-3 or type 2 diabetes of atypical characteristics, in this case patients who present I27L polymorphism in the HNF1α gene


Objetivos: El objetivo de este estudio es describir y evaluar las características clínicas y metabólicas de pacientes diabéticos MODY 3, MODY 2 y con diabetes tipo 2 portadores del polimorfismo I27L en el gen HNF1α. Métodos: Se incluyó a 31 pacientes diagnosticados previamente y en seguimiento en consultas externas por diabetes tipo MODY 3, MODY 2 y diabetes tipo 2 portadores del polimorfismo I27L en el gen HNF1α: 10 pacientes diagnosticados de diabetes MODY 3 (pertenecientes a 5 familias); 15 pacientes con diabetes MODY 2 (pertenecientes a 9 familias) y 6 pacientes diagnosticados de diabetes tipo 2 portadores del polimorfismo I27L en el gen HNF1α. Se analizan las características clínicas, antropométricas y metabólicas de los pacientes. Resultados: No se objetivaron diferencias en la distribución por sexos y edad o forma de diagnóstico de la diabetes. Todos los pacientes con diabetes MODY 2 y MODY 3 tenían antecedentes familiares de diabetes. El 33,3% de los pacientes con diabetes tipo 2 portadores del polimorfismo I27L en el gen HNF1α no tenían antecedentes familiares de diabetes (p > 0,05). No se encontraron diferencias en el IMC, la prevalencia de hipertensión arterial o la incidencia de complicaciones microvasculares o macrovasculares. En cuanto al tratamiento, el 100% de los pacientes con diabetes MODY 3 necesitaban tratamiento farmacológico. El 100% de los pacientes con diabetes MODY 2 y el 16,7% de los pacientes con diabetes tipo 2 y el polimorfismo I27L en el gen HNF1α no necesitaban tratamiento farmacológico (p > 0,05). Conclusiones: Este artículo realza la dificultad en la correcta clasificación clínica de los pacientes con diabetes MODY 2, MODY 3 y diabéticos tipo 2 con características clínicas atípicas, en este caso portadores del polimorfismo I27L en el gen HNF1α


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Diabetes Mellitus Tipo 2/genética , Fator 1-alfa Nuclear de Hepatócito/genética , Polimorfismo Genético
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA