A new clinical score for cranial CT in ED non-trauma patients: Definition and first validation.

Introduction:Well recognized guidelines are available for the use of cranial computed tomography (CCT) in traumatic patients,while no definitely accepted standards exists to for CCT in patientswithout history of head injury. The aimof this study is to propose an easy clinical score to stratify the need of CCT inemergency department (ED) patients with suspect non-traumatic intracranial pathology. Methods: We retrospectively evaluated patients presenting to the ED for neurological deficit, postural instability, acute headache, alteredmental status, seizures, confusion, dizziness, vertigo, syncope, and pre-syncope.Webuild a score for positive CCT prediction by using a logistic regression model on clinical factors significant at univariate analysis. The score was validated on a population of prospectively observed patients. Results: We reviewed clinical data of 1156 patients; positivity of CCT was 15.2%. Persistent neurological deficit, new onset acute headache, seizures and/or altered state of consciousness, and transient neurological disorders were independent predictors of positive CCT. We observed 508 patients in a validation prospective cohort; CCT was positive in 11.3%. Our score performed well in validation population with a ROC AUC of 0.787 (CI 95% 0.748\u20130.822). Avoiding CT in score 0 patients would have saved 82 (16.2%) exams. No patients with score 0 had a positive CCT findings; score sensitivity was 100.0 (CI 95% 93.7\u2013100.0). Conclusions: A score for risk stratification of patients with suspect of intra-cranial pathology could reduce CT request in ED, avoiding a significant number of CCT while minimizing the risk of missing positive results

Analysis of X chromosome inactivation in autism spectrum disorders.

International audienceAutism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked syndromes. In this study, we aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 163 affected girls. The XCI pattern was also determined in two control groups (144 adult females and 40 young females) with a similar age distribution to the mothers sample and affected girls sample, respectively. We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (> or = 80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z-score of 1.75 close to rs719489. In summary, our results suggest that there is no major X-linked gene subject to XCI and expressed in blood cells conferring susceptibility to ASD. However, the possibility that rare mutations in X-linked genes could contribute to ASD cannot be excluded. We propose that the XCI profile could be a useful criteria to prioritize families for mutation screening of X-linked candidate genes

Genetics of migraine and pharmacogenomics: some considerations

Migraine is a complex disorder caused by a combination of genetic and environmental factors

Stress-induced cortisol secretion and in vivo metabolism of arachidonic acid.

Il lavoro è stato selezionato e premiato tra i 25 migliori presentati al congress