RESUMEN
Congenital dysfibrinogenemia (CD) is a hereditary disease that causes by the mutation of fibrinogen (Fg) gene, which result in abnormal of fibrinogen structure and function.Most of the mutations are dominant heredity which located at autosomal.The clinical manifestations of CD patients are highly diverse including asymptomatic, bleeding tendency, thrombophilia in some cases both bleeding tendency and thrombophilia coexist. As a result of highly diverse symptom the CD diagnosis mainly relies on laboratory tests. The result of coagulation test which has the best diagnostic value of CD was found to be fibrinogen antigen/activity ratio (PT-der/Clauss) greater than 1.43, thrombin time (TT) prolonged, prothrombin time (PT) and activated partial thromboplastin time (APTT)normal. According to patient′s clinical manifestations and coagulation function test results, combing with family history surveys diagnosis of CD can be made. Mass spectrometry can efficiently identify the type of fibrinogen defects in CD patients. And DNA sequencing can directly locate the site of mutation in fibrinogen gene.
RESUMEN
<p><b>OBJECTIVE</b>To explore the clinical phenotype of a family affected with congenital dysfibrinogenemia and potential mutations underlying the disease.</p><p><b>METHODS</b>Coagulation testing and hepatorenal function testing were conducted on 18 individuals from three generations. Plasma fibrinogen was extracted and analyzed with SDS-PAGE electrophoresis. All of the exons and flanking sequences of fibrinogen FGA, FGB, FGG genes were analyzed by PCR, and the products were subjected to Sanger sequencing.</p><p><b>RESULTS</b>Hepatorenal function, prothrombin time and activated partial thromboplastin time of the proband were all normal. However, his thrombin time was significantly prolonged. Fibrinogen activity was decreased, while the concentration of antigen was in the normal range. The results of his mother, brother, and nephew were similar. DNA sequencing has confirmed that the proband, his mother, brother, and nephew have all carried a g.5877G>A mutation in the exon 8 of the FGG gene, which resulted in replacement of arginine (Arg) by histidine (His) at position 275.</p><p><b>CONCLUSION</b>The Arg275His mutation of the fibrinogen gamma chain probably underlies the pathogenesis of congenital dysfibrinogenemia in this family.</p>
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Afibrinogenemia , Genética , Metabolismo , Pueblo Asiatico , Genética , Secuencia de Bases , China , Fibrinógeno , Genética , Metabolismo , Datos de Secuencia Molecular , Mutación , Mutación Missense , Linaje , Mutación PuntualRESUMEN
Objective To evaluate the clinical application of mammorgraphy with core needle biopsy in the diagnosis of breast lesions.Methods 36 cases of clinical nonpalpable breast lesions were detected with stereotactic needle core biopsy(SCNB) and 27 cases of ≥2 cm breast masses with direct core biopsy. Results The study showed that breast cancer was 20(31.7%), benign breast lesion 43(68.3%). The diagnostic accuracy, aspiration misplay and false negatigve were 93.6%, 3.2% and 3.2%, respectively. No false positive was found. Conclusion Mammorgaphy with core needle biopsy is a simple, less invasive and accurate localization procedure, very valuable in the diagnosis of nonpalpable lesions that only be visible on mammography.