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1.
Clin Radiol ; 78(10): 715-723, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37453807

RESUMEN

Gadoxetic disodium (Primovist) is a hepatocyte-specific magnetic resonance imaging (MRI) contrast agent with increasing popularity with its unique dual dynamic and excretory properties in focal liver lesion detection and characterisation. In-depth knowledge of its diagnostic utility and pitfalls in hepatocellular carcinoma (HCC) and liver metastases is crucial in facilitating clinical management. The current article reviews the pearls and pitfalls in these aspects with highlights from the latest research evidence. Pearls for common usage of Primovist in HCC includes detection of precursor cancer lesions in cirrhotic patients. Hepatobiliary phase hypointensity precedes arterial phase hyperenhancement (APHE) in hepatocarcinogenesis. Hepatobiliary phase hypointense nodules without APHE can represent early or progressed hepatocellular carcinoma (HCC) and high-grade dysplastic nodules. In addition, Primovist is useful to differentiate HCC from pseudolesions. Pitfalls in diagnosing HCC include transient tachypnoea in the arterial phase, rare hepatobiliary phase hyperintense HCC, and decompensated liver cirrhosis compromising image quality. Primovist is currently the most sensitive technique in diagnosing liver metastases before curative hepatic resection. Other patterns of enhancement of liver metastases, "disappearing" liver metastases are important pitfalls. Radiologists should be aware of the diagnostic utility, limitations, and potential pitfalls for the common usage of hepatobiliary specific contrast agent in liver MRI.


Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Carcinoma Hepatocelular/diagnóstico por imagen , Carcinoma Hepatocelular/patología , Neoplasias Hepáticas/patología , Medios de Contraste , Sensibilidad y Especificidad , Gadolinio DTPA , Imagen por Resonancia Magnética/métodos , Estudios Retrospectivos
2.
Genet Couns ; 23(3): 415-21, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23072191

RESUMEN

Infantile galactosemia can be caused by inborn errors of galactose metabolism or other rare causes like Fanconi-Bickel syndrome, congenital porto-systemic shunting and multiple hepatic arterio-venous malformations. All these disease entities are however not commonly seen. We report a case of transient infantile galactosemia who first presented in the 1990s, for which no underlying pathology could be identified despite extensive investigations. The diagnosis had not been apparent until after more than a decade, at that time the patient was lost to contact. Considering the potential diagnosis an important and significant one, efforts were made by the case pathologists and clinicians to search for the patient. Ethical dilemmas were encountered during the search of the patient, which involved issues of patient confidentiality and autonomy, and the doctors' duty-to-care. Modern biochemical and molecular testing confirmed the diagnosis after the patient was finally found. The case illustrates the power of molecular testing to retrospectively diagnose an inherited metabolic disease when biochemical abnormalities have subsided, the value of an accurate and precise diagnosis, and the importance of appropriate genetic counselling in an apparently asymptomatic patient in the era of personalized medicine.


Asunto(s)
Galactosemias/genética , Adolescente , Galactosemias/diagnóstico , Asesoramiento Genético , Humanos , Recién Nacido , Masculino , Factores de Tiempo
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