Gastrointestinal stromal tumour of the duodenum in childhood: a rare case report

<p>Abstract</p> <p>Background</p> <p>Gastrointestinal stromal tumours (GISTs) are uncommon primary mesenchymal tumours of the gastrointestinal tract mostly observed in the adults. Duodenal GISTs are relatively rare in adults and it should be regarded as exceptional in childhood. In young patients duodenal GISTs may be a source of potentially lethal haemorrhage and this adds diagnostic and therapeutic dilemmas to the concern about the long-term outcome.</p> <p>Case presentation</p> <p>A 14-year-old boy was referred to our hospital with severe anaemia due to recurrent episodes of upper gastrointestinal haemorrhage. Endoscopy, small bowel series, scintigraphy and video capsule endoscopy previously done elsewhere were negative. Shortly after the admission, the patient underwent emergency surgery for severe recurrence of the bleeding. At surgery, a 4 cm solid mass arising from the wall of the fourth portion of the duodenum was identified. The invasion and the erosion of the duodenal mucosa was confirmed by intra-operative pushed duodenoscopy. The mass was resected by a full-thickness duodenal wall excision with adequate grossly free margins. Immunohistochemical analysis of the specimen revealed to be positive for CD117 (c-KIT protein) consistent with a diagnosis of GIST. The number of mitoses was < 5/50 HPF. Mutational analysis for c-KIT/PDGFRA tyrosine kinase receptor genes resulted in a wildtype pattern. The patient had an uneventful course and he has remained disease-free during two years of follow-up.</p> <p>Conclusion</p> <p>Duodenal GISTs in children are very rare and may present with massive bleeding. Cure can be achieved by complete surgical resection, but even in the low-aggressive tumours the long-term outcome may be unpredictable.</p

Comparison Study of MS-HRM and Pyrosequencing Techniques for Quantification of APC and CDKN2A Gene Methylation

There is increasing interest in the development of cost-effective techniques for the quantification of DNA methylation biomarkers. We analyzed 90 samples of surgically resected colorectal cancer tissues for APC and CDKN2A promoter methylation using methylation sensitive-high resolution melting (MS-HRM) and pyrosequencing. MS-HRM is a less expensive technique compared with pyrosequencing but is usually more limited because it gives a range of methylation estimates rather than a single value. Here, we developed a method for deriving single estimates, rather than a range, of methylation using MS-HRM and compared the values obtained in this way with those obtained using the gold standard quantitative method of pyrosequencing. We derived an interpolation curve using standards of known methylated/ unmethylated ratio (0%, 12.5%, 25%, 50%, 75%, and 100% of methylation) to obtain the best estimate of the extent of methylation for each of our samples. We observed similar profiles of methylation and a high correlation coefficient between the two techniques. Overall, our new approach allows MS-HRM to be used as a quantitative assay which provides results which are comparable with those obtained by pyrosequencing

Quantitative value of aldosterone-renin ratio for detection of aldosterone-producing adenoma: The Aldosterone-Renin Ratio for Primary Aldosteronism (AQUARR) study

Background Current guidelines recommend use of the aldosterone\u2010renin ratio (ARR) for the case detection of primary aldosteronism followed by confirmatory tests to exclude false\u2010positive results from further diagnostic workup. We investigated the hypothesis that this could be unnecessary in patients with a high ARR value if the quantitative information carried by the ARR is taken into due consideration. Methods and Results We interrogated 2 large data sets of prospectively collected patients studied with the same predefined protocol, which included the captopril challenge test. We used an unambiguous diagnosis of aldosterone\u2010producing adenoma as reference index. We also assessed whether the post\u2010captopril ARR and plasma aldosterone concentration fall furnished a diagnostic gain over baseline ARR values. We found that the false\u2010positive rate fell exponentially, and, conversely, the specificity increased with rising ARR values. At receiver operating characteristics curves and diagnostic odds ratio analysis, the high baseline ARR values implied very high positive likelihood ratio and diagnostic odds ratio values. The baseline and post\u2010captopril ARR showed similar diagnostic accuracy (area under the receiver operating characteristics curve) in both the exploratory and validation cohorts, indicating lack of diagnostic gain with this confirmatory test (between\u2010area under the curve difference, 0.005; 95% CI, 120.031 to 0.040; P=0.7 for comparison, and 0.05; 95% CI, 120.061 to 0.064; P=0.051 for comparison, respectively). Conclusions These results indicate that the ARR conveys key quantitative information that, if properly used, can simplify the diagnostic workup, resulting in saving of money and resources. This can offer the chance of diagnosis and ensuing adrenalectomy to a larger number of hypertensive patients, ultimately resulting in better control of blood pressure

Investigation on the interaction between the outdoor environment and the indoor microclimate of a historical library

In recent years, the study of the indoor microclimate has assumed increasing importance, both in relation to the health of people living in confined environments for a considerable part of their time, both for the problems associated with the conservation of works of art and cultural heritage housed in museums, galleries and libraries. In this paper, we present the results of a measurement campaign carried out in two periods of the year, which can be considered "extreme" from the meteo-climatic point of view, in the Classense Library located in the city of Ravenna (Italy). This is a famous Italian historical library that houses many books of great value. The campaigns took place one in the summer period (from July 22nd to August 6th 2014) and another one in winter (from 15th December to 30th December 2014). During these measurements campaigns, we have characterized different and heterogeneous indoor environments. The internal pollutants concentrations and thermo-hygrometric data have been compared with the external ones, obtained from nearby measuring points. In this way, we have been able to determine the Indoor/Outdoor ratio (I/O ratio) of the pollutants concentrations. From these data and from the estimated air exchange rate, the pollutants deposition velocities have been calculated, too. The building has no air conditioning systems and our experimental data show that it is characterized by a relatively low rate of air exchange and a high thermal inertia. We have also compared the analysed microclimatic data with the specific values recommended by different norms and standards, in order to verify the conditions of preservation of the precious texts. Finally, we have applied a mathematical model to study the indoor pollutants concentrations, in order to confirm that the correlations between the outdoor and the indoor pollutants levels can be explained in terms of the building characteristics. The results of the model application fit well the experimental data and the consequent theoretical estimates made in this work; in fact, they are consistent with very low values of air exchange ratio of the building. These results can be used to define a specific "Performance Index" (PI) of the building, expressed as the percentage of time in which the microclimatic parameters of the library (i.e. the thermo-hygrometric values) do not match the recommended values. Furthermore, they can also provide a first step, based on experimental data, for the development, in close collaboration with the conservation scientists, of a methodology for risk assessment, specifically to be used for cultural heritage housed in museums, galleries and archives

The Aymand's hernia. Case report and review of the literature

The crural hernia containing an inflamed appendix is a rare entity and must be considered a variant of the hernia first described in 1735 by Claudius Amyand. This hernia is rarely recognised and diagnosed before the surgical treatment because it is often confused with a stran- gled hernia. In spite of this, the clinical presentation seems to follow a well determined pathway, so is possible to argue that the uncorrect diagnosis is to be attributed to the ignorance of this hernia. We report a case of Amyand’s crural hernia in a woman 57 years old. The base of the appendix was not inflamed and, according to this, we made an appendectomy. We closed the hernia defect without the use of a synthetic mesh. The post operative period was regular and free of complications