PubMed · 10876179
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B Cady, M Chung. 2000. Invited commentary: sentinel node biopsy-comment on techniques.. https://doi.org/10.1067/msy.2000.107230
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The evaluation and management of hepatitis C differ from those of other infectious diseases in important ways. In this review, the roles of liver biopsy, virus load determination, and genotyping in the pretreatment evaluation and monitoring of patients with hepatitis C are discussed from a hepatologist's perspective.
Defects in mitochondrial energy metabolism lead to severe disorders in humans referred to as mitochondriocytopathies. Most of them have been reported to result from deficiencies of one or more complexes of the respiratory chain and, more rarely, from mitochondrial transmembrane metabolite carrier defects. Dysfunctioning of the ADP/ATP carrier, which catalyses the export of matrix ATP in exchange for cytosolic ADP, has been demonstrated to induce myopathies in mouse and in humans. To screen for ADP/ATP carrier deficiency in patients suffering from mitochondriocytopathy with no defined etiology, we have set up a fluorometric assay to quantify the ADP/ATP carrier in small muscle homogenates, without preliminary isolation of mitochondria. The assay is based on the use of a fluorescent derivative of atractyloside, namely naphthoyl-atractyloside, a highly specific inhibitor of ADP/ATP transport. Here, we describe analysis of healthy and pathological muscle samples, and characterization of ADP/ATP carrier deficiencies in two patients, one displaying an absence of the carrier and the second one containing a limited amount of the carrier with altered binding properties.
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