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Gaucher disease is a metabolic storage disorder caused by a mutation in the lysosomal enzyme B-glucocerebrosidase. This disease is usually manifested in new born infants, however, an exceptional case of this disease in adult has been recently reported. A 21-year-old Caucasian patient was diagnosed with Gaucher disease, demonstrating Virchow's lymphatic node enlargement and mild splenomegaly. A familial link to this disease was also found. Macrophage infiltration was observed in the aff ected Virchow's lymph node which is not a classic sign of Gaucher disease. DNA analysis and a whole blood count also suggested a manifestation of this disease. In summary, this is the first study to report such case of Gaucher disease in an adult female patient, which may suggest an asymptomatic characteristic of this condition and an importance of the presence of Gaucher cells in the enlarged Virchow's lymph node.
This article was published in the following journal.
Name: Folia medica
Ductal carcinoma of the lacrimal gland is a very rare and aggressive neoplasm, with clinical and histopathologic similarities to salivary ductal carcinoma. Of the 25 previously reported cases, 2 patie...
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RATIONALE: Diagnostic procedures, such as lymph node mapping and sentinel lymph node identification, performed before and during surgery, may improve the ability to detect lymph node metas...
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First lymph node to receive drainage from the primary tumor. SENTINEL LYMPH NODE BIOPSY is performed to determine early METASTASIS status because cancer cells may appear first in the sentinel node.
A diagnostic procedure used to determine whether LYMPHATIC METASTASIS has occurred. The sentinel lymph node is the first lymph node to receive drainage from a neoplasm.
The historic designation for scrofula (TUBERCULOSIS, LYMPH NODE). The disease is so called from the belief that it could be healed by the touch of a king. This term is used only for historical articles using the name "king's evil", and is to be differentiated from scrofula as lymph node tuberculosis in modern clinical medicine. (From Webster, 3d ed)
Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.
The local lymph node assay (LLNA) is an alternative method for the identification of chemicals that have the ability to cause skin sensitization and allergic contact dermatitis. Endpoints have been established so fewer animals are required and less painful procedures are used.
Enzymes are proteins that catalyze (i.e., increase the rates of) chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical re...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...