Oral findings in Williams-Beuren syndrome.

BACKGROUND: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. MATERIAL AND METHODS: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. RESULTS: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. CONCLUSIONS: The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life.

Investigation of A218C tryptophan hydroxylase polymorphism: association with familial suicide behavior and proband's suicide attempt characteristics.

According to WHO, suicide accounts for about 1,000,000 deaths worldwide every year. In view of these dramatic data, several studies have tried to identify possible biological mechanisms and markers of suicide. Genes encoding for proteins involved in the serotonergic transmission are major candidates in association studies of suicidal behavior. The gene that codes for tryptophan hydroxylase (TPH), the rate-limiting enzyme in the biosynthesis of serotonin, is one of these candidates. Two polymorphisms in intron 7 of this gene (A218C and A779C) have been described, but their role in suicidal behavior remains uncertain. TPH A218C polymorphism was analyzed in a sample of 248 psychiatric patients and 63 healthy controls. In addition, at least one close relative member was interviewed to assess family suicidal behavior history. Our research confirmed that a positive history of suicide attempts in a family member is associated with the chance of an individual to attempt suicide. Furthermore, we demonstrated that familial suicide attempts are more lethal and frequently more violent. We were not able to find significant differences of the TPH genotype frequencies between patients and controls. The TPH A218C genotypes were not associated with a history of suicide attempt and the lethality of the most lethal lifetime suicide attempt and suicide attempt method. The authors conclude that the A218C polymorphism of the TPH gene may not be a susceptibility factor for suicidal behavior in this group of psychiatric patients but confirm that a family suicidal behavior history increases the proband's suicide attempt risk.

Familial suicide behaviour: association with probands suicide attempt characteristics and 5-HTTLPR polymorphism.

OBJECTIVE: There is compelling evidence that a serotonergic dysfunction may play a major role in suicide behaviour and it has also been demonstrated that suicide is, at least partially, genetically determined. Thus, the serotonin-related genes are the major candidates. Previously a functional polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) was identified and the presence of the short allele (S) was found to be associated with a lower level of expression of the gene and lower levels of 5-HT uptake when compared with the long allele (L). The purpose of this study was to evaluate the association between family suicide behaviour history and probands' suicide attempt (SA) history, SA characteristics and 5-HTTLPR genotype. METHOD: We genotyped 237 probands (major depressed or schizophrenic patients) and used a semistructured interview to determine probands' SA characteristics and first- and second-degree family suicidal behaviour. RESULTS: An association between suicidal family history and proband's SA but not with SA characteristics and probands genotype was found. CONCLUSION: Our results suggest that multiple biological and environmental factors underlie familial transmission of suicidal behaviour.

Levels of particulate matter in rural, urban and industrial sites in Spain.

This paper summarises the results of a series of studies on the interpretation of time series of levels of total suspended particles (TSP) and particulate matter (PM, <10 microm) in six regions of Spain in the period 1996-2000. In addition to the local pollution events, high PM10 episodes are recorded during African dust outbreaks, regional atmospheric recirculation events (mainly in spring to autumn), and to a lesser extent, under the influence of European and Mediterranean long range transported air masses. The lowest PM10 levels are usually recorded under Atlantic air mass advective conditions. All these regional and large-scale processes account for the relatively high PM10 levels recorded in regional background stations in Spain. Thus, the PM10 levels recorded at EMEP (Cooperative Program for Monitoring and Evaluation of the Long Range Transmission of Air Pollutants in Europe) regional background stations between March 2001 and March 2002 are very close to the annual limit value proposed for 2010 by the EU Air Quality Directive 1999/30/CE. Chemical data obtained for the different monitoring stations during 2001 show a high mineral load in PM10 for most of the study sites in Spain. Furthermore, a high marine aerosol load is evidenced in the Canary Islands. These mineral and marine loads are lower when considering PM2.5, but a relatively high proportion (8-21%) of mineral dust is still present.

Analysis of T102C 5HT2A polymorphism in Brazilian psychiatric inpatients: relationship with suicidal behavior.

1. Central serotonergic dysfunction and genetic factors are associated with suicidal behavior in psychiatric patients. The goal of this study was to examine the association between the 5-HT2A gene polymorphism (102T/C) and suicide in a sample of Brazilian psychiatric inpatients. 2. We studied 225 subjects. Genotypic frequencies were obtained after DNA extraction and the region of 5-HT2A/T102C containing the polymorphic site amplified by the polymerase chain reaction and digested with the restriction enzyme HpaII. 3. No differences were found between patients with and without suicide attempt history. Patients with a history of severe suicide attempts also did not exhibit different genotypic frequencies when compared with patients without a suicide attempt history. 4. These results suggest that the 5HT2A gene polymorphism (102T/C) may not be involved in the genetic susceptibility to suicidal behavior.

[The surgical treatment of an aneurysm of the celiac trunk and hepatic artery]. / Tratamiento quirúrgico de un aneurisma del tronco celíaco y arteria hepática.

We report a case of splenic aneurysms with double location, at the celiac trunks and at the common hepatic artery, in the same patient that was treated by a surgical procedure. We also review literature about the hepatic aneurysms at the celiac trunks, with special attention on the aspects of etiology, natural evolutions and different surgical procedures available. It is remarkable on this kind of pathology that special attention should be paid in order to avoid the simple ligature-exclusion of the aneurysm, it involves realizing an endoaneurysmorrhaphy followed by an aorto-hepatic by-pass.