“Alpha-1-antitrypsin deficiency (MID) is a rare genetic di


“Alpha-1-antitrypsin deficiency (MID) is a rare genetic disorder associated with the development of liver

and lung disease AAT is a 52-kD glycoprotein produced mainly by hepatocytes and secreted into the blood Agglomeration of the AAT-protein in hepatocytes can result in liver disease Exposure to smoke is the major risk factor for the development of lung disease characterised BEZ235 nmr as early chronic obstructive lung disease (COPD) Diagnosis is based on the analysis of the AAT genotype and phenotype The measurement of the AAT serum level is useful as screening test Liver biopsy is not necessary to establish the diagnosis Therapy for AAT-related liver disease is supportive a specific therapy

is not available MID is a rare condition (1 5000-10000) and as a consequence data and information on diagnosis and treatment are not easily accessible This chapter provides a comprehensive overview on AATD covering basic biology diagnostic and therapeutic approaches (C) 2010 Elsevier Ltd All rights reserved”
“Background Nepicastat cost : Carbonic anhydrase IX (CA9) is reportedly overexpressed in several types of carcinomas, but little is known about the expression pattern of CA9 in osteosarcoma. We aimed to assess the prevalence of CA9 expression and its prognostic implications in osteosarcoma patients. Methods : We compared

immunohistochemical expression of CA9 between conventional, high-grade and low-grade, central osteosarcomas. Specimens were obtained before chemotherapy and stained with anti-human CA9 antibody. We also evaluated the histologic grade, presence of metastasis, see more and patient prognosis. Results : Among 38 samples of conventional high-grade osteosarcoma, 22 (57.9%) tumors displayed CA9 overexpression. Twenty-five cases of low-grade central osteosarcomas were all negative (p < 0.0001). CA9 expression was significantly associated with the presence of metastasis (p = 0.0010). The overall survival rate was significantly reduced with increased CA9 expression (p = 0.0012), higher histologic grade (p <0.0001), and younger age (p = 0.0140). However, the overall survival rate was not significantly correlated with gender, tumor size, or American Joint Committee on Cancer stage. Conclusions : CA9 expression is a frequent and tumor-specific event in osteosarcoma. CA9 expression is associated with higher grade tumors, metastasis and poor prognosis for the osteosarcoma patients.

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