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Biomedical subjects

I Blesa

Publications and source records attributed to I Blesa.

5 recordsLinked to original sources
PubMed2000

The S65C mutation in Spain. Implications for iron overload screening.

Hereditary hemochromatosis is related to mutations of the HFE gene. The role of the S65C mutation of this gene was evaluated in a Spanish population, consisting of 100 controls and 41 patients who had resulted positive to screening for iron overload. Only one patient was heterozygous for the S65C mutation, so the S65C mutation is infrequent in our area. Nevertheless, it is advisable to search for this mutation in cases with iron overload and heterozygosity for the C282Y or H63D mutations of the HFE gene.

Case-Control Studies↗
PubMedDate not supplied

[Cholangiocarcinoma].

The cholangiocarcinoma is a low-prevalence neoplasia, but represents a great medical challenge in its diagnosis and treatment because of its insidious clinical manifestations. Its cellular origin has been associated to other hepatic tumors, and to multiple congenital or acquired factors (infections, drugs and other diseases). The most frequent histological type is the adenocarcinoma and the most common localization is the choledochal duct; local metastases are frequently found in autopsies. The usual clinical findings are pruritus, weight loss, anorexia, jaundice and hepatomegaly. The immunohistochemical advances related to oncogenes (ras & C-erb B-1) and tumor markers (Epidermal Growth Factor and Integrin among others) allow to make differential diagnosis with other hepatic cancers and will provide valuable information about its cell biology. The initial approach to patients with this disease is made by ultrasound (US), which can be associate to Doppler; Computed Axial Tomography and Nuclear Magnetic Resonance have similar sensitivity and specificity, so they are preferred to US in the elderly with history of weight loss. It's better to perform Percutaneous Transhepatic Cholangiography than Endoscopic Retrogrado Pancreatocholangiography when its possible because the first permits a comprehensive visualization of the biliary tree. The treatment includes resection and endoprosthesis placement. The combination of surgery, Chemotherapy and Radiotherapy allows to achieve the best survival rates, and opens a door to new strategies related to this malignancy.

Adult↗