Screening of subtelomeric rearrangements in autism spectrum disorder. Identification of a partial trisomy of 13q in a patient

Screening of subtelomeric rearrangements in autism spectrum disorder. Identification of a partial trisomy of 13q in a patient.

Valutazione delle possibilità e dei limiti del trattamento palliativo del carcinoma del retto mediante laser Nd-Yag versus colostomia

Marcatori di rischio diabetologico nella Sindrome dell’ovaio policistico (PCOS).

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families

We have screened 143 Sicilian (Italian) families with one autistic child to verify, by a linkage disequilibrium approach, the involvement of the 2q31.1 region in the cause of the disease in these families. Our study design includes the use of intrafamilial association to prevent a population stratification bias and ethnic homogeneity of the sample. The results of our analysis provided suggestive evidence of the occurrence of transmission disequilibrium between autism and the D2S2188 polymorphism in Sicilian TRIO families, a finding which provides further and independent support to the hypothesis of the existence of a susceptibility gene (or genes) for autism on chromosome 2q.

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients

Differential up-regulation of circulating soluble selectins and endothelial adhesion molecules in Sicilian patients with Boutonneuse fever

SUMMARYIn 150 patients with Boutonneuse fever (BF), caused by Rickettsia conorii, we studied the plasma levels of soluble l-selectin (s l-selectin), vascular cell adhesion molecule-1 (sVCAM-1), intercellular adhesion molecule-1 (sICAM-1) and E-selectin (sE-selectin) in various phases of disease to clarify their role in disease evolution. Results indicate that during the acute phase of BF there is a significant increase in the serum levels of s l-selectin, sE-selectin, sVCAM-1 and sICAM-1. s l-selectin and sVCAM-1 returned to normal levels in the third week of disease, whereas sE-selectin and sICAM-1 persisted at significantly high levels even after the third week. The secretion of these sol…

PHARMACOLOGICAL MODULATION OF OPERANT BEHAVIOUR FOR ACETALDEHYDE. INVOLVEMENT OF D2 AND CB1 RECEPTORS.

Acetaldehyde (ACD), the first metabolite of ethanol, has rewarding and motivational properties, as shown by behavioural studies specifically tailored for studying addictive-like behaviour (1, 2). The rewarding and incentive effects of alcohol and others addictive substances, result from their capability to enhance mesolimbic dopamine (DA) transmission, as well as to affect the cannabinoid system, which is able to fine-tune the activity of DA neurons (3). ACD directly increases DA neurotransmission (4), but the neural underpinning the operant behaviour for oral-self administered ACD still remains poorly understood. Since D2 and CB1 receptors are involved in alcohol addiction (3), as well as …

Analisi molecolare di 3 geni (NLGN3, NLGN4, GRPR) localizzati sul cromosoma X in una popolazione autistica siciliana.

Analisi molecolare di 3 geni (NLGN3, NLGN4, GRPR) localizzati sul cromosoma X in una popolazione autistica siciliana..

Persistenza e cinetica degli anticorpi sierici anti-L. infantum.