An Exploratory Study of Field Failures

Field failures, that is, failures caused by faults that escape the testing phase leading to failures in the field, are unavoidable. Improving verification and validation activities before deployment can identify and timely remove many but not all faults, and users may still experience a number of annoying problems while using their software systems. This paper investigates the nature of field failures, to understand to what extent further improving in-house verification and validation activities can reduce the number of failures in the field, and frames the need of new approaches that operate in the field. We report the results of the analysis of the bug reports of five applications belonging to three different ecosystems, propose a taxonomy of field failures, and discuss the reasons why failures belonging to the identified classes cannot be detected at design time but shall be addressed at runtime. We observe that many faults (70%) are intrinsically hard to detect at design-time

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

Objective: We investigated the contribution to sporadic focal epilepsies (FE) of ultrarare variants in genes coding for the components of complexes regulating mechanistic Target Of Rapamycin (mTOR)complex 1 (mTORC1). Methods: We collected genetic data of 121 Italian isolated FE cases and 512 controls by Whole Exome Sequencing (WES) and single-molecule Molecular Inversion Probes (smMIPs) targeting 10 genes of the GATOR1, GATOR2, and TSC complexes. We collapsed “qualifying” variants (ultrarare and predicted to be deleterious or loss of function) across the examined genes and sought to identify their enrichment in cases compared to controls. Results: We found eight qualifying variants in cases and nine in controls, demonstrating enrichment in FE patients (P = 0.006; exact unconditional test, one-tailed). Pathogenic variants were identified in DEPDC5 and TSC2, both major genes for Mendelian FE syndromes. Interpretation: Our findings support the contribution of ultrarare variants in genes in the mTOR pathway complexes GATOR and TSC to the risk of sporadic FE and a shared genetic basis between rare and common epilepsies. The identification of a monogenic etiology in isolated cases, most typically encountered in clinical practice, may offer to a broader community of patients the perspective of precision therapies directed by the underlying genetic cause

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry. To dissect out syndrome-related variants, we also explored two distinct GGE subgroups comprising 1434 patients with genetic absence epilepsies (GAEs) and 1134 patients with juvenile myoclonic epilepsy (JME). Joint Stage-1 and 2 analyses revealed genome-wide significant associations for GGEs at 2p16.1 (rs13026414, Pmeta = 2.5 × 10−9, OR[T] = 0.81) and 17q21.32 (rs72823592, Pmeta = 9.3 × 10−9, OR[A] = 0.77). The search for syndrome-related susceptibility alleles identified significant associations for GAEs at 2q22.3 (rs10496964, Pmeta = 9.1 × 10−9, OR[T] = 0.68) and at 1q43 for JME (rs12059546, Pmeta = 4.1 × 10−8, OR[G] = 1.42). Suggestive evidence for an association with GGEs was found in the region 2q24.3 (rs11890028, Pmeta = 4.0 × 10−6) nearby the SCN1A gene, which is currently the gene with the largest number of known epilepsy-related mutations. The associated regions harbor high-ranking candidate genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32. Further replication efforts are necessary to elucidate whether these positional candidate genes contribute to the heritability of the common GGE syndrome

Educatore professionale in Pronto Soccorso Pediatrico

L\u2019educatore professionale, da alcuni anni, \ue8 impegnato in progetti sperimentali nei reparti pediatrici italiani, in cui ha il compito di attivare strategie finalizzate all\u2019elaborazione della malattia, in chiave educativa, affinch\ue9 essa non si trasformi in un\u2019esperienza traumatica. Finora non sembrano, per\uf2, esserci inserimenti nel Pronto Soccorso Pediatrico. Alla luce di ci\uf2, \ue8 stato condotto uno studio presso il Pronto Soccorso Pediatrico (PSP) dell\u2019Azienda Sanitaria Universitaria Integrata di Udine per rilevare, in una prima fase, se bambini e caregiver che accedevano al PSP presentassero dei bisogni educativi e per attuare, nella seconda, un progetto educativo che rispondesse ai bisogni emersi. La ricerca ha messo in evidenza che sussiste un bisogno educativo su cui poter intervenire: la riduzione dell\u2019eccesso di preoccupazione dei caregiver. L\u2019intervento proposto, che si \ue8 concretizzato in un\u2019attivit\ue0 di creazione guidata di fiabe da svolgersi in collaborazione tra caregiver e bambino, ha mostrato un\u2019attenuazione delle manifestazioni comportamentali correlate alla preoccupazione. Il positivo risultato dell\u2019esperienza ha fornito un contributo rispetto a quanto gi\ue0 presente in letteratura in merito all\u2019esistenza di uno spazio d\u2019intervento per l\u2019educatore professionale in ambito pediatrico

Chest ultrasound in children

Sebbene per molti anni il polmone sia stato erroneamente considerato non esplorabile con gli ultrasuoni, nell\u2019ultimo decennio l\u2019ecografia toracica (ET) \ue8 stata applicata allo studio della patologia pleurica, degli addensamenti parenchimali e dell\u2019interstizio polmonare nel paziente adulto. L\u2019ET pu\uf2 risultare utile per chiarire la natura e la pertinenza anatomica di reperti radiografici dubbi, permettendo di distinguere tra addensamenti, atelettasie e versamenti pleurici; inoltre \ue8 la metodica di scelta per la valutazione longitudinale di queste condizioni. Il basso costo, la rapidit\ue0 di esecuzione e la ripetibilit\ue0 dell\u2019indagine, oltre alle ovvie ragioni radioprotezionistiche, fanno s\uec che l\u2019ET in campo pediatrico - soprattutto se direttamente eseguibile dal clinico al letto del paziente - si proponga come metodica di grande interesse, degna di approfondimenti e sviluppi

Recurrent seizures during acute acquired toxoplasmosis in an immunocompetent traveller returning from Africa

Introduction: We report an unusual case of acute acquired toxoplasmosis (AAT) presenting as lymphadenopathy and recurrent seizures in an immunocompetent 15-year-old boy. Materials and methods: The patient reported an 18-day vacation to Africa (Ethiopia), 39 days prior to the first seizure. Electroencephalogram (EEG) showed sporadic single-spike or sharp-wave paroxysms and the magnetic resonance imaging (RMI) of the brain was negative. The serology for T. gondii was compatible with an acute infection defined as positive for both toxoplasma-specific IgG and IgM and a low avidity (6 %), confirmed by a reference laboratory. The patient reported other two episodes of seizures, occurring 7 days apart. He was treated with pyrimethamine plus sulfadiazine and leucovorin for 4 weeks, with an improvement of lymphadenitis and normalization of EEG. After 5 months, new seizures were reported and a diagnosis of epilepsy was done. Toxoplasma polymerase chain reaction (PCR) of cerebrospinal fluid (CSF) and blood were negative. A treatment with valproic acid was started, obtaining control of the neurological disease. Conclusion: Awareness of this neurologic manifestation by clinicians is required, also in immunocompetent patients. The relationship between toxoplasmosis and recurrent seizure needs to be investigated by new studie

Sleep disorders in children with brain tumors: a pilot study based on a sleep disorder questionnaire

Purpose: The aim of this study is to compare the prevalence of sleep disorders (SD) between children treated for brain tumors and healthy children, and to define the type of SD. Methods: A case-control study was performed from October 2014 to April 2015. Inclusion criteria were patients between 2 and 16 years with \u201ccases\u201d defined as children affected by central nervous system tumors at least 3 months after the end of treatment (surgery and/or radiotherapy and/or chemotherapy) at the time of evaluation and \u201ccontrols\u201d as healthy children. Children\u2019s sleep quality was assessed with a questionnaire administered to parents (Child\u2019s Sleep Habits Questionnaire, CSHQ). A total score greater than 41 is suggestive for the presence of disturbed sleep. The risk of SD was estimated by the odds ratio (OR) and their 95% confidence intervals (95% CI) through logistic regression models. Results: Twenty-nine cases and 87 controls (in a 1:3 model) were enrolled, for a total of 116 subjects. The prevalence of SD resulted of 82.8% among cases and 64.4% in controls. A statistically significant difference between the two groups (OR 2.65; 95% CI 0.92\u20137.65) was not reached. Analyzing singular disturbances, parasomnias and night awakenings showed a statistically significant difference between the two groups (OR 4.32; 95% CI 1.08\u201317.34). Conclusions: Our study revealed a trend toward SD in children with brain tumor when compared to healthy population. Hovewer, analyzing specific subtypes of SD some significant differences were obtained. A significant difference was obtained only for specific subtypes of SD. Further investigations could better define the real burden of SD