Errors in the Radiological Evaluation of the Alimentary Tract: Part II

: Plain abdominal radiography and computed tomographic (CT) enteroclysis are 2 essential radiological investigations in the study of gastrointestinal tract. Errors in patient preparation, execution, and interpretation may lead to severe consequences in the diagnosis and thus in patient outcome. Abdominal radiography is one of the most frequently requested radiographic examinations, and has an established role in the assessment of the acute abdomen. CT enteroclysis has revolutionized the assessment of small-bowel pathology, especially in patients with inflammatory bowel. The purpose of this article is to describe the pitfalls in the execution and interpretation of plain abdominal film and CT enteroclysis

Can semi-quantitative evaluation of uncertain (type II) time-intensity curves improve diagnosis in breast DCE-MRI?

Qualitative assessment of un- certain (type II) time-intensity curves (TICs) in breast DCE-MRI is problematic and operator dependent. The aim of this work is to evaluate if a semi-quanti- tative assessment of uncertain TICs could improve overall diagnostic performance. Methods: In this study 49 lesions from 44 patients were retrospectively analysed. Per each lesion one region-of-interest (ROI)- averaged TIC was qualitatively evaluated by two ra- diologists in consensus: all the ROIs resulted in type II (uncertain) TIC. The same TICs were semi-quan- titatively re-classified on the basis of the difference between the signal intensities of the last-time-point and of the peak: this difference was classified accord- ing to two different cut-off ranges (±5% and ±3%). All patients were cytological or histological biopsy proven. Fisher test and McNemar test were per- formed to evaluate if results were statistically signifi- cant (p < 0.05). Results: Using ±5% cut-off 16 TICs were reclassified as type III and 12 as type I while 21 were reclassified again as type II. Using ±3% 22 TICs were reclassified as type III and 16 as type I while 11 were reclassified again as type II. The semi-quantita- tive classification was compared to the histological- cytological results: the sensitivity, specificity, positive and negative predictive values obtained with ±3% were 77%, 91%, 91% and 78% respectively while using ±5% were 58%, 96%, 94% and 68% respec- tively. Using the ±5% cut-off 26/28 (93%) TICs were correctly reclassified while using the ±3% cut-off 34/38 (90%) TICs were correctly reclassified (p < 0.05). Conclusions: Semi-quantitative methods in ki- netic curve assessment on DCE-MRI could improve classification of qualitatively uncertain TICs, leading to a more accurate classification of suspicious breast lesions

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant

BACKGROUND: ZFYVE19 (Zinc Finger FYVE-Type Containing 19) mutations have most recently been associated to a novel type of high gamma-glutamyl transpeptidase (GGT), non-syndromic, neonatal-onset intrahepatic chronic cholestasis possibly associated to cilia dysfunction. Herein, we report a new case with further studies of whole exome sequencing (WES) and immunofluorescence in primary cilia of her cultured fibroblasts which confirm the observation.RESULTS: A now 5-year-old girl born to clinically healthy consanguineous Moroccan parents was assessed at 59days of life due to severe cholestatic jaundice with increased serum bile acids and GGT, and preserved hepatocellular synthetic function. Despite fibrosis/cirrhosis and biliary ducts proliferation on liver biopsy suggested an extrahepatic biliary obstacle, normal intra-operatory cholangiography excluded biliary atresia. Under choleretic treatment, she maintained a clinically stable anicteric cholestasis but developped hyperlipidemia. After exclusion of the main causes of cholestasis by multiple tests, abnormal concentrations of sterols and WES led to a diagnosis of hereditary sitosterolemia (OMIM #618666), likely unrelated to her cholestasis. Further sequencing investigation revealed a homozygous non-sense mutation (p.Arg223Ter) in ZFYVE19 leading to a 222 aa truncated protein and present in both heterozygous parents. Immunofluorescence analysis of primary cilia on cultured skin fibroblasts showed a ciliary phenotype mainly defined by fragmented cilia and centrioles abnormalities.CONCLUSIONS: Our findings are consistent with and expands the recent evidence linking ZFYVE19 to a novel, likely non-syndromic, high GGT-PFIC phenotype with neonatal onset. Due to the possible role of ZFYVE19 in cilia function and the unprecedented coexistence of a coincidental hereditary sterol disorder in our case, continuous monitoring will be necessary to substantiate type of liver disease progression and/or possible emergence of a multisystemic involvement. What mentioned above confirms that the application of WES in children with undiagnosed cholestasis may lead to the identification of new causative genes, widening the knowledge on the pathophysiology