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The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

ABSTRACT: Genetic defects in ATP8B1 or ABCB11 account for the majority of cholestasis with low GGT. But the ranges for GGT in patients with ATP8B1 or ABCB11 deficiency are unclear. This study tried to unravel the features of GGT in these patients that improve diagnostic efficiency.This study enrolled 207 patients with chronic cholestasis who were ordered to test for ATP8B1 and/or ABCB11 from January 2012 to December 2015. Additional 17 patients with ATPB81 or ABCB11 deficiency diagnosed between January 2004 and December 2011 were also enrolled in this study. 600 population-matched children served as controls. Clinical data were obtained by retrospectively reviewing medical records.A total of 26 patients were diagnosed with ATP8B1 deficiency and 30 patients were diagnosed with ABCB11 deficiency. GGT levels were similar between the two disorders at any observed month of age, but varied with age. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month and <50U/L beyond one year. GGT levels in patients with a genetic diagnosis were different from that in patients without a genetic diagnosis and controls. Larger ranges for GGT were found in patients without a genetic diagnosis. Some controls had GGT?70U/L in the 2nd~6th month. Of the 207 patients, 39 (18.8%) obtained a genetic diagnosis. 111 patients met the ranges described above, including all the 39 patients with ATP8B1 or ABCB11 deficiency. The sensitivity was 100.0%. The rate of a positive molecular diagnosis increased to 35.1% (39/111 vs. 39/207, X2 = 10.363, P = 0.001). The remaining 96 patients exceeded the ranges described above and failed to receive a genetic diagnosis. These patients accounted for 43.8% of sequencing cost.GGT levels in patients with ATP8B1 or ABCB11 deficiency varied with age. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month and <50U/L beyond one year.

SUBMITTER: Wang NL

PROVIDER: S-EPMC4822785 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Wang Neng-Li NL Li Li-Ting LT Wu Bing-Bing BB Gong Jing-Yu JY Abuduxikuer Kuerbanjiang K Li Gang G Wang Jian-She JS

PloS one 20160406 4

<h4>Background and aims</h4>Genetic defects in ATP8B1 or ABCB11 account for the majority of cholestasis with low GGT. But the ranges for GGT in patients with ATP8B1 or ABCB11 deficiency are unclear. This study tried to unravel the features of GGT in these patients that improve diagnostic efficiency.<h4>Methods</h4>This study enrolled 207 patients with chronic cholestasis who were ordered to test for ATP8B1 and/or ABCB11 from January 2012 to December 2015. Additional 17 patients with ATPB81 or AB ...[more]

PMID: 27050426

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Project description:BackgroundIt is difficult to distinguish the pathological grade of lung adenocarcinoma (LUAD) with traditional computed tomography (CT). The aim of this study was to assess tumor differentiation by dual-layer spectral detector CT combined with morphological parameters.MethodsIn this prospective study, a total of 67 patients with pathologically diagnosed LUAD were enrolled: 39 patients in the well- and moderately-differentiated group (14 and 25 patients, respectively) and 28 patients in the poorly-differentiated group. Morphological parameters, non-enhanced CT number, double-enhanced CT number, effective atomic number, monoenergetic CT images (40 and 70 keV), iodine density, and thoracic aorta iodine density of tumors were measured. The slope of the spectral curve and normalized iodine density were calculated. The diagnostic efficiency of the spectral parameters alone, and the combined spectral and morphological parameters were obtained by statistical analysis.ResultsThe morphological signs of LUAD (the vessel convergence sign, bronchus encapsulated air sign, and liquefactive necrosis) were higher in the poorly-differentiated group than in the well-moderately-differentiated group (57.1% vs. 30.8%, 40.0%; 60.7% vs. 28.2%, 32.0%; 64.3% vs. 28.2%, 24.0%; all P<0.05). There were significant differences in normalized iodine density (arterial phase: 0.10±0.04 vs. 0.12±0.05, 0.13±0.04; venous phase: 0.31±0.07 vs. 0.39±0.17, 0.40±0.17) among the poorly-differentiated group and moderately-differentiated group as well as the well-differentiated group (all P<0.05). Receiver operating characteristic (ROC) curves of the poorly-differentiated group and well-moderately-differentiated group showed that the normalized iodine density had the best diagnostic efficiency in the arterial phase, with an area under the curve (AUC) of 0.817, sensitivity of 92.9%, and specificity of 82.1% (P<0.001). The AUC increased to 0.916 when the morphological parameters were included, and sensitivity and specificity were 96.4% and 82.1% (P<0.001), respectively.ConclusionsThe parameters of dual-layer spectral detector CT can help discriminate the pathological grade of LUAD. Among the spectral parameters, the normalized iodine density in the arterial phase has the best diagnostic efficiency, and the combination of spectral and morphological parameters improves the pathological grading of LUAD.

Dataset Information

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Publications

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

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