An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.

We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis

A prototype for anomaly detection in video surveillance context

Security has been raised at major public buildings in the most famous and crowded cities all over the world following the terrorist attacks of the last years, the latest one at the Bardo museum in the centre of Tunis. For that reason, video surveillance systems have become more and more essential for detecting and hopefully even prevent dangerous events in public areas. In this paper, we present a prototype for anomaly detection in video surveillance context. The whole process is described, starting from the video frames captured by sensors/cameras till at the end some well-known reasoning algorithms for finding potentially dangerous activities are applied. The conducted experiments confirm the efficiency and the effectiveness achieved by our prototype

An explainable artificial intelligence methodology for hard disk fault prediction

Failure rates of Hard Disk Drives (HDDs) are high and often due to a variety of different conditions. Thus, there is increasing demand for technologies dedicated to anticipating possible causes of failure, so to allow for preventive maintenance operations. In this paper, we propose a framework to predict HDD health status according to a long short-term memory (LSTM) model. We also employ eXplainable Artificial Intelligence (XAI) tools, to provide effective explanations of the model decisions, thus making the final results more useful to human decision-making processes. We extensively evaluate our approach on standard data-sets, proving its feasibility for real world applications

Improving graph embeddings via entity linking: A case study on Italian clinical notes

The ever-increasing availability of Electronic Health Records (EHRs) is the key enabling factor of precision medicine, which aims to provide therapies and diagnoses based not only on medical literature, but also on clinical experience and individual information of patients (e.g. genomics, lifestyle, health history). The unstructured nature of EHRs has posed several challenges on their effective analysis, and heterogeneous graphs are the most suitable solution to handle the heterogeneity of information contained in EHRs. However, while EHRs are an extremely valuable data source, information from current medical literature has yet to be considered in clinical decision support systems. In this work, we build an heterogeneous graph from Italian EHRs provided by the Hospital of Naples Federico II, and we define a methodological workflow allowing us to predict the presence of a link between patients and diagnosed diseases. We empirically demonstrate that linking concepts to biomedical ontologies (e.g. UMLS, DBpedia) — which allow us to extract entities and relationships from medical literature — is significantly beneficial to our link-prediction workflow in terms of Area Under the ROC curve (AUC) and Mean Reciprocal Rank (MRR)

Malignant perivascular epithelioid cell tumor in children: description of a case and review of the literature

Perivascular epithelioid cell tumors (PEComas) include different morphological entities originating from perivascular epitheliod cells. Their clinical behavior is not predictable, and there are no strict histologic criteria for malignancy, although larger tumors with infiltrative growth, hypercellularity, cellular atypia, atypical mitoses, and necrosis generally have a malignant course. Pediatric PEComas are rare, with less than 40 cases reported, mostly in children older than 5 years. We describe a case of malignant PEComa of the ligamentum teres in a 2-year-old girl, characterized by the occurrence of local relapse after primary treatment with chemotherapy and surgery and poor response to imatinib mesilate and temsirolimus used after further analyses confirmed p70S6K expression involved in the mTOR pathway. The girl was eventually treated with a debulking surgical procedure and is now alive with disease 6 years after diagnosis. Literature data of children affected by PEComas were also analyzed, trying to identify pathologic characteristics that could predict their course and therapeutic options. Histologically, they may be differentiated in 3 prognostic categories: (1) benign, lacking unfavorable morphological markers; (2) with uncertain malignant potential, carrying 1 unfavorable marker; and (3) malignant, with at least 2 unfavorable markers. In the literature, 9% of cases occurred as a second malignancy probably because of genomic instability related to treatment. Their different biology and the potential value of targeted therapies remain to be explored. The indolent evolution in our patient was similar to that reported in some other cases in the literature. In terms of treatment, the present case suggests a minor response to temsirolimus compared with the adult population

Topiramate: effect on EEG interictal abnormalities and background activity in patients affected by focal epilepsy.

PURPOSE: To evaluate the effects of topiramate (TPM) on interictal epileptiform abnormalities (IEA) and background activity by means of a computerized EEG analysis, in adult patients affected by focal epilepsy, with or without secondarily generalization, treated with TPM as adjunctive therapy or monotherapy. METHODS: Twenty-four patients affected by symptomatic or cryptogenic focal epilepsy underwent long-term video-EEG recording before and after TPM addition (mean dose 175+/-25 mg per day). RESULTS: TPM addition induced a significant reduction of both partial and secondarily generalized tonic-clonic (SGTC) seizures; treatment responder patients (seizure reduction > or = 50%) were 19 out of 24 patients (79.1%), of whom 5 were seizure-free. Quantitative analysis of IEA showed a significant decrease in the mean number of spikes/10 min during TPM therapy ( 4.2+/-4.2 versus 2.2+/-4.4; P<0.003 ). The analysis of spatial distribution of interictal spikes showed that such reduction was more evident at the level of the epileptogenic area rather than on the spreading component. Statistical analysis revealed only a significant decrease of mean relative power of alpha band in the EEG spectral content, recorded at rest in a group of 18 out of 24 epileptic patients during TPM therapy. In addition, during TPM treatment we observed a significant reduction in alpha reactivity without any important changes of alpha indexes (peak frequency and median frequency). CONCLUSION: These findings suggest that TPM has a strong inhibitory effect on IEA, probably acting on the generating processes, and, if used at low dosage and gradually titrated, seems to have only mild interferences with EEG background activity