Search

Littoral cell angioma (LCA) is a rare benign vascular splenic tumor that can evolve, potentially, into a malignant form. It can be found incidentally in the majority of cases during ultrasound (US) or other imaging exams, performed for other problems. It has not a (US) or computed tomography (CT) pathognomonic pattern so diagnosis is made by histological and immunochemical analysis. This is a case of LCA discovered incidentally in an 81-year-old woman admitted to our hospital for dyspnea due to cardiac tamponade. The splenic disease was discovered during an US abdomen study performed to reveal a source of infection. Our patient was evaluated also with CT study that confirmed the presence of splenic lesions but could not make a diagnosis. The patient underwent a splenectomy that showed histological and immunochemical evaluations consistent with presence of LCA.

MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5-1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients' quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary "yes or no" questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients' quality of life and savings for the health care system of about 9 million euros per year.

Background: Intramyocardial course, an inborn coronary anomaly, is defined as a segment of a major epicardial coronary artery that runs intramurally through the myocardium; in particular, we distinguish myocardial bridging, in which the vessel returns to an epicardial position after the muscle bridge, and intramyocardial course, which is described as a vessel running and ending in the myocardium. Purpose: To evaluate the prevalence of myocardial bridging and intramyocardial course of coronary arteries as defined by multidetector computed tomography (MDCT) angiography. Material and Methods: The study population consisted of 242 consecutive patients (211 men, 31 women; mean age 59±6 years) with atypical chest pain admitted to our hospital between December 2004 and September 2006. All MDCT examinations were performed using a 16-detector-row scanner (Aquilion 16 CFX; Toshiba Medical System, Tokyo, Japan). Patients with heart rate above 65 bpm received 50 mg atenolol orally for 3 days prior to the MDCT scan, or they increased their usual therapy with beta-blockers, in order to obtain a prescan heart rate Results: In 235 patients, the CT scan was successful and images were appropriate for evaluation. The prevalence of myocardial bridging and intramyocardial course of coronary arteries was 18.7% (47 cases) in our patient population. In 30 segments (63.8%), the vessels ran and ended in the myocardium. In the remaining 17 segments (36.2%), the vessels returned to an epicardial position after the muscle bridge. We found no difference in the prevalence of this inborn coronary anomaly when comparing different clinical characteristics of the study population (sex, age, body-mass index [BMI], etc.). The mean length of the subepicardial artery was 7 mm (range 5–12 mm), and the mean depth in the diastolic phase was 1.9 mm (range 1.2–2.3 mm). There was no significant difference of diameter in these segments between the different R–R phases examined. Conclusion: Our study is in agreement with major angiographic literature reporting a prevalence of myocardial bridging and intramyocardial course between 0.5% and 33%. MDCT technology represents a useful, noninvasive imaging method to assess and evaluate the location, depth, and length of this anatomical variation.

Wilm’s tumor 1 (WT1), a zinc-finger transcription factor and an epigenetic modifier, is frequently overexpressed in several hematologic disorders and solid tumors, and it has been proposed as diagnostic and prognostic marker of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). However, the exact role of WT1 in leukemogenesis and disease progression remains unclear. In this real-world evidence retrospective study, we investigated prognostic role of WT1-mRNA expression levels in AML and MDS patients and correlations with complete blood counts, flow cytometry counts, and molecular features. A total of 71 patients (AML, n = 46, and MDS, n = 25) were included in this study, and WT1 levels were assessed at diagnosis, during treatment and follow-up. We showed that WT1 expression levels were inversely correlated with normal hemopoiesis in both AML and MDS, and positively associated with blast counts. Flow cytometry was more sensitive and specific in distinguishing normal myeloid cells from neoplastic counterpart even just using linear parameters and CD45 expression. Moreover, we showed that a simple integrated approach combining blast counts by flow cytometry, FLT3 mutational status, and WT1 expression levels might be a useful tool for a better prognostic definition in both AML and MDS patients.

BACKGROUND: The aim of the present study was to assess the in-stent restenosis and occlusion of coronary artery stents by multislice computed tomography (MSCT) compared with conventional coronary angiography in patients with atypical chest pain and not practicable/non-conclusive stress test. METHODS: Between December 2004 and March 2006, 81 patients were scheduled and of these 72 (65 men, mean age 61 years) with 90 stents underwent MSCT angiography using a 16-slice scanner, Toshiba Aquilion 16, 8-12 months after stent placement. RESULTS: Of the 90 stents, 71 (79%) could be assessed and 19 (21%) were excluded because the image quality at the stent level was incompatible with diagnostic assessment. This results in sensitivity, specificity, and positive and negative predictive values for all assessable stents in the identification of occlusion and/or in-stent restenosis of 82, 96, 87, and 94%, respectively. When the 19 uninterpretable stents were included in the analysis, the diagnostic accuracy of MSCT in detecting in-stent restenosis and occlusion resulted in a sensitivity of 82%, specificity of 71%, positive predictive value of 40%, and negative predictive value of 94%. CONCLUSION: The results of the study suggest that MSCT angiography is a useful method for evaluating patency/occlusion of large (≥3 mm) coronary stents in symptomatic patients with atypical chest pain and concomitant not practicable/non-conclusive exercise or stress imaging test.