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SP Cannavò† F Borgia† M Vaccaro† F Guarneri† E Magliolo‡ B Guarneri† 《Journal of the European Academy of Dermatology and Venereology》2002,16(6):625-627
Pretibial myxoedema is a cutaneous mucinosis typically associated with Graves' disease, although it may also develop in subjects with non-thyrotoxic thyroid pathologies. This report presents a rare case of pretibial myxoedema occurring in a 58-year-old woman with biopsy-proven Hashimoto's thyroiditis. The hypothetical pathogenetic link between the two disorders is discussed with particular attention to the role of thyroid stimulating hormone receptor antibodies. 相似文献
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The molecular lesions causing beta-thalassemia in Sicily can be subdivided into two groups. One that occurs at a 71% frequency and consists of the beta 39, IVS 1,110 and IVS 1,6 mutations and the other group at a 20% frequency comprising the -87, beta s, IVS 1,1 and IVS 2,745 mutations. The identification of all these mutations by polymerase chain reaction (PCR) and conventional dot-blot hybridization has been time consuming and expensive. In this article, we describe the implementation of the reverse dot-blot (RDB) hybridization as a rapid nonradioactive method for the identification of the nine most frequent molecular lesions in the beta-globin gene (-87, beta s, beta c, IVS 1,1, IVS 1,6, IVS 1,110, beta 39, IVS 2,1, IVS 2,745) in Sicily. Sixty prenatal diagnoses were performed by this RDB assay, each of which was confirmed by dot-blot/ASO hybridization; thus demonstrating the accuracy of the RDB. The main advantage of this assay is the rapid typing of an individual's DNA for many mutations in a single working day. Because the mutations in this assay are representative for the Mediterranean region, this mutational panel can also be extended to the screening of beta-thalassemia from other Mediterranean regions. 相似文献
75.
Inhibition of tissue factor/factor VIIa activity in plasma requires factor X and an additional plasma component 总被引:10,自引:0,他引:10
A study was carried out to explore requirements for the inhibition of tissue factor-factor VIIa enzymatic activity in plasma. Reaction mixtures contained plasma, 3H-factor IX or 3H-factor X, tissue factor (vol/vol 2.4% to 24%), and calcium. Tissue factor-factor VIIa activity was evaluated from progress curves of activation of factor IX or factor X, plotted from tritiated activation peptide release data. With normal plasma, progress curves exhibited initial limited activation followed by a plateau indicative of loss of tissue factor-factor VIIa activity. With hereditary factor X-deficient plasma treated with factor X antibodies, progress curves revealed full factor IX activation. Adding only 0.4 micrograms/mL factor X (final concentration) could restore inhibition. Inhibition was not observed in purified systems containing 6% to 24% tissue factor, factor VII, 0.5 micrograms/mL, factor IX, 13 micrograms/mL, and factor X up to 0.8 micrograms/mL, but could be induced by adding barium-absorbed plasma to the reaction mixture. Thus, both factor X and an additional material in plasma were required for inhibition. The amount of factor X needed appeared related to the concentration of tissue factor; adding more tissue factor at the plateau of a progress curve induced further activation. These results also indicate that inhibited reaction mixtures contained active free factor VII(a). Preliminary data suggest that inhibition may stem from loss of activity of the tissue factor component of the tissue factor- factor VII(a) complex. 相似文献
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Persistent primitive sciatic artery 总被引:1,自引:0,他引:1
80.
Alexopoulou A Koskinas J Deutsch M Delladetsima J Kountouras D Dourakis SP 《Tumori》2006,92(4):354-357
BACKGROUND: Acute liver failure is a rare complication of metastatic liver disease with a high mortality. Recognition of malignant infiltration of the liver as the cause of acute liver failure could be a diagnostic challenge. PATIENTS: The medical files of 5 patients with acute liver failure due to metastatic liver disease collected over a 4-year period (1997-2000) in our department were reviewed. RESULTS: No patient had a past history of cancer. The interval from jaundice to encephalopathy ranged from 7 to 12 days (median, 10). Physical examination revealed hepatomegaly and deep jaundice in all patients. AST elevation ranged from 147 to 1870 IU/L (median, 716 IU/L) and ALT elevation from 74 to 556 IU/L (median, 138 IU/L). All patients died within 4-14 days (median, 7) of admission. None had papillary edema or decerebrate posture before death. Four patients had concurrent renal impairment. Liver imaging studies in 2 of the 5 patients were nondiagnostic and the malignant liver infiltration was confirmed postmortem. Liver histology in all cases showed massive tumoral infiltration of the hepatic sinusoids with diffuse replacement of hepatocytes. The primary tumors were colon, gastric, small cell lung, pancreas and cancer of unknown origin. CONCLUSIONS: Malignant infiltration of the liver should be taken into account in the differential diagnosis of rapidly progressive liver failure. Although effective chemotherapy has improved the survival of patients with metastatic liver disease, there has been no change in the course and outcome of acute liver failure due to malignant infiltration of the liver over the last 2 decades. A proper diagnosis by liver biopsy is mandatory to prevent such patients from being considered for liver transplant. 相似文献