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Background: Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD., Methods: A total of 522 patients belonging to 430 families were screened for deletions, duplications, and methylation abnormalities involving 15q11-q13 with multiplex ligation-dependent probe amplification (MLPA)., Results: We identified four patients with 15q11-q13 abnormalities: a supernumerary chromosome 15, a paternal interstitial duplication, and two subjects with Angelman syndrome, one with a maternal deletion and the other with a paternal uniparental disomy., Conclusions: Our results show that abnormalities of the 15q11-q13 region are a significant cause of ASD, accounting for approximately 1% of cases. Maternal interstitial 15q11-q13 duplications, previously reported to be present in 1% of patients with ASD, were not detected in our sample. Although paternal duplications of chromosome 15 remain phenotypically silent in the majority of patients, they can give rise to developmental delay and ASD in some subjects, suggesting that paternally expressed genes in this region can contribute to ASD, albeit with reduced penetrance compared with maternal duplications. These findings indicate that patients with ASD should be routinely screened for 15q genomic imbalances and methylation abnormalities and that MLPA is a reliable, rapid, and cost-effective method to perform this screening.

We report a case of a 23-year-old patient admitted for a right femur fracture resulting from a traffic accident. An intra-alveolar haemorrhage occurred 48 hours later, with asphyxia anaemia, haematic bronchial aspirations, and bilateral alveolar opacities at chest X-ray. This symptomatology was associated with fever, sub-conjunctival petechiae, major hypocholesterolemia, deterioration of renal function, and cholestasis. All these features suggested a fat embolism. Other possible aetiologies were discarded because of normal cardiovascular and immunologic systems and absence of infection. The outcome under symptomatic treatment was satisfactory within 15 days. The occurrence of intra-alveolar haemorrhage in post-traumatic fat embolism is a rare event caused by pulmonary capillary obstruction by fat emboli.

Although the range of applications for antisense oligonucleotides is vast, current research concentrates mainly on virology and oncology. We have conducted in vivo and in vitro investigations of radiolabelling and biodistribution of a 22-mer phosphodiester oligonucleotide injected in athymic mice bearing xenograft of human mammary tumor (coculture: MCF7 and fibroblasts strain AF-11). Tumor/healthy tissue ratio of the 22-mer phosphodiester oligonucleotide fixation is high during the 24 hours after injection instead of fast elimination.

The development of biotechnologies offers considerable potential for new therapeutical approaches, targetting nucleic acids as information bearing molecules responsible for various pathologies. Gene therapy has, up to now, mainly aimed at compensating deficiencies of gene expression, through complex molecular and cellular constructions. Recently, an increasing interest has focused on short nucleotidic sequences (thus relatively easy to synthetize), or oligonucleotides, which could be able to specifically block the expression of mutated or overexpressed genes. When the target of these oligonucleotides is the mRNA of such genes, the strategy is called "antisense". This strategy has already led to a number of successful results in experimental models in vitro. Much more rare are actual effects in animal models and clinical trials are just being sketched. A review on the current state of the art will enlighten the physiological potential of these new molecules but also underline the still numerous issues before controlling therapeutical applications.

Four new arterial lesions observed with Behçet's disease are reported: two popliteal aneurysms, one carotid aneurysm and one carotid stenosis. The clinical features, therapeutic modalities and postoperative complications of these uncommon lesions are reviewed briefly.

Estrogen receptor concentration was measured in fine needle aspirates from 98 human mammary carcinomas. We performed a biochemical radiolabeled assay by the Charcoal-Dextran procedure on cytosols obtained after homogenization in a saline hypertonic buffer (0,4 M KCl) and centrifugation at 105,000 g. DNA content of the pellets was measured by fluorimetry. A sample of about 10(6) cells, containing at least 10 micrograms of DNA, was needed to obtain a reliable result. In this report, 74 samples were over 10 micrograms of DNA each. The analysis of these samples showed that, in 39 cases (52,8%), the estrogen receptor level was over the limit of 500 fmol/mg of DNA. In 5 cases (6,7%), the range was between 500 to 600 fmol/mg DNA and, in 30 cases (40,5%), it was under 500 fmol/mg DNA and was considered as negative. For 15 patients, estrogen receptors were determined on the same tumor, as removed by fine needle aspiration and by a surgical procedure (6 cases) or drill-biopsy (9 cases). There was a good correlation between the receptor content in needle aspirates and in tissue specimens for 13 cases out of 15.