MLPA analysis in a cohort of patients with autism

BACKGROUND: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation dependent Probe Amplification (MLPA) and methylation specific multiplex ligation dependent probe amplification (MS-MLPA) test in autistic children refered by the neurodevelopmental center and autism unit of a Paediatric Hospital. RESULTS: In this study 150 unrelated children with autism spectrum disorders were analysed for copy number variation in specific regions of chromosomes 15, 16 and 22, using MLPA. All the patients had been previously studied by conventional karyotype and fluorescence in situ hybridization (FISH) analysis for 15(q11.2q13) and, with these techniques, four alterations were identified. The MLPA technique confirmed these four and identified further six alterations by the combined application of the two different panels. CONCLUSIONS: Our data show that MLPA is a cost effective straightforward and rapid method for detection of imbalances in a clinically characterized population with autism. It contributes to strengthen the relationship between genotype and phenotype of children with autism, showing the clinical difference between deletions and duplications

Evolution of a Late Pleistocene aeolianite in the northern Mediterranean (Liguria, NW Italy).

Based on a 19th century scientific report, a recent geological survey has highlighted the presence of a complex, mostly aeolian deposit along the coast of Liguria (Laigueglia, Savona Province, NW Italy). This finding was recognized to be a relevant palaeoclimatic marker, being the northernmost aeolianite outcrop ever reported from the Mediterranean Basin. The investigated deposit is spread along a steep sea-facing slope from 2-3 m up to almost 60 m a.s.l.; it is strongly reworked due to recent urbanization of the area. Its stratigraphic features were recognized thanks to its exposure in different sections and analysed in order to obtain reliable indications on the sedimentary environments. Facies analysis suggests that the sedimentary body is a relict cliff-top dune evolved on top of a foreshore deposit in temperate-cold and moist climate conditions. Two samples from the upper, strictly aeolian part of the sequence were subjected to OSL (Optically Stimulated Luminescence) dating and yielded an age consistent with its deposition during the Marine Isotopic Stage (MIS) 5.2 and 5.1 substages (88-83 and 83-71 ka). This paper contributes to the increase of the number of Upper Plei - stocene coastal aeolianites accounted for in literature. Being located at the northern border of the occurrence of aeolianites in the northern Mediterranean, it helps to outline climatic and environmental boundary conditions for the formation of this type of deposit

Dysregulated Sexuality in Women with Eating Disorders: The Role of Childhood Traumatic Experiences

The present study explored the psychopathological, behavioral, and putative biological underpinnings of dysregulated sexuality in eating disorders (EDs), focusing on the role of childhood trauma–evaluated with the Childhood Trauma Questionnaire (CTQ). The comparison between Binge-Purging and Restricting patients outlined the predominance of markers of dysregulated sexuality in the first subgroup. In the clinical sample, hypersexuality–measured through the Hypersexual Behavior Inventory (HBI)–was associated with severe psychopathology, emotion dysregulation, childhood trauma, adverse consequences, and higher ghrelin levels. Moderation analyses showed that hypersexuality was associated with emotion dysregulation and psychopathology only in those patients reporting childhood traumatic experiences