The X-linked dystonia-parkinsonism (XDP) is a severe, progressive, adult-onset, X-linked endemic disorder in Filipinos, which is characterized by dystonic movements that start in the third or fourth decade, and replaced by parkinsonism beyond the 10th year of illness. Understanding the pathophysiology of XDP and development of rational therapies will depend on observations from imaging, pathological, and genetic studies. In this paper we summarize the results of these studies on patients with XDP.
View Article and Find Full Text PDFA 6-year-old girl presented with disseminated polymorphous skin lesions of several months' duration, joint pains, recurrent fever, anemia, and inguinal adenopathy. Subsequent evaluation of skin, lymph node, and bone marrow morphology showed infiltration of atypical lymphocytic cells. Immunohistochemical and flow cytometric analysis showed findings consistent with the rare but highly malignant blastic Natural killer cell lymphoma/leukemia also termed CD4/CD56 hematodermic neoplasm.
View Article and Find Full Text PDFBackground: Chromogenic in situ hybridization (CISH) is emerging as a practical, cost-effective, and valid alternative to fluorescent in situ hybridization in testing for gene alteration, especially in centers primarily working with immunohistochemistry (IHC).
Methods: We assessed Her-2/neu alteration using CISH on formalin-fixed paraffin-embedded primary invasive ductal carcinoma tumors in which IHC (CB11 antibody) had previously been performed, and we compared the results with IHC. The 160 selected cases were equally stratified randomly into the four IHC categories (scores of 0, 1+, 2+, and 3+).