Correlationship between methylation status of cholangiocarcinoma-related genes in bile and cholan-giocarcinoma / 中华消化内镜杂志

Objective To determine the aberrant methylation status of TFPI-2,FOXE1 and NPTX2 gene promoter region in bile from cholangiocarcinoma patients and the diagnostic value for cholangiocarcinoma. Methods Methylation—specific PCR(MSP)was used to detect the promoter methylation status of TFPI-2, FOXE1 and NPTX2 genes in bile from 29 patients with cholangiocarcinoma and 27 patients with choledocholi-thiasis.The sensitivity and specificity of combined methylation of 3 promotors and brush cytology were analyzed. Results There was significant difference between the methylation rate of NPTX2,FOXE1 in choledocholithiasis group and cholangiocarcinoma group(75. 86% VS 25. 93%,χ2 = 13. 964,P0. 05).Positive rate was 34. 48% with endoscopic retrograde brush cytolog,and 86. 20% with promoter methylation of FOXE1 combined with NPTX2 genes,and there was significance difference in the positive rates between the two methods(χ2 = 14. 122,P< 0. 05). Conclusion The methylation rates of NPTX2,FOXE1 were significantly higher in choledocholithiasis group than those in the cholangiocarcinoma group. Detection of comethylation rate of the FOXE1 and NPTX2 genes could improve diagnostic sensitivity of cholangiocarcinoma.

Bases moleculares del hipotiroidismo congénito / Molecular bases of congenital hypothyroidism

Las alteraciones endocrinológicas constituyen parte importante de la consulta pediátrica, la más frecuente es el hipotiroidismo congénito, grave problema de salud pública que requiere de diagnóstico neonatal. Los avances en el estudio molecular han permitido discernir las alteraciones en los procesos de organogénesis y hormonogénesis que lo producen. Se describen las principales alteraciones moleculares relacionadas con: diferenciación tiroidea, síntesis hormonal, hipotiroidismo central y con su acción periférica. El estudio de las alteraciones moleculares abre posibilidades interesantes, pues a partir del conocimiento preciso de los procesos fisiopatológicos y moleculares podrá realizarse en forma precoz el diagnóstico y manejo de estos pacientes, previniendo las secuelas que genera esta enfermedad.

The endocrinological disorders constitute an important percentage of the pediatric consultations. The most frequently endocrinopathy is congenital hypothyroidism, which is considered a public health problem. Newborn screening is mandatory in Mexico. The advances in the molecular field have allowed differentiating among the alterations caused by this disease with especial relevance in the organogénesis and homonogenesis. In this review, the main molecular alterations are analyzed, describing their relationship with thyroid cellular differentiation, hormonal synthesis, central origin hypothyroidism and peripheral tissues target. The study of the molecular abnormalities open new possibilities as to the precise knowledge of the physiopathological and molecular processes. A better and earlier diagnosis and management of this pathology may arise, which in turn will prevent the severe sequelae that congenital hypothyroidism causes.