A genome-wide significant linkage for severe depression on chromosome 3: the depression network study.

Objective: The purpose of this study was to find loci for major depression via linkage analysis of a large sibling pair sample. Method: The authors conducted a genome-wide linkage analysis of 839 families consisting of 971 affected sibling pairs with severe recurrent major depression, comprising waves I and II of the Depression Network Study cohort. In addition to examining affected status, linkage analyses in the full data set were performed using diagnoses restricted by impairment severity, and association mapping of hits in a large case-control data set was attempted. Results: The authors identified genome-wide significant linkage to chromosome 3p25-26 when the diagnoses were restricted by severity, which was a maximum LOD score of 4.0 centered at the linkage marker D3S1515. The linkage signal identified was genome-wide significant after correction for the multiple phenotypes tested, although subsequent association mapping of the region in a genome-wide association study of a U.K. depression sample did not provide significant results. Conclusions: The authors report a genome-wide significant locus for depression that implicates genes that are highly plausible for involvement in the etiology of recurrent depression. Despite the fact that association mapping in the region was negative, the linkage finding was replicated by another group who found genome-wide-significant linkage for depression in the same region. This suggests that 3p25-26 is a new locus for severe recurrent depression. This represents the first report of a genome-wide significant locus for depression that also has an independent genome-wide significant replication.

Dos Militars davant i després de l'aixecament del 19 de juliol de 1936: Antonio Alcubilla i Enrique Justo

En aquest treball s'aprofundeix en el coneixement del que va ser l' alçament del 19 de juliol de 1936 i es detalla l'actuació contraposada que protagonitzaren, en temps de guerra idel franquisme, dos militars destinats a la ciutat: el tinent coronel Alcubilla iel capità Justo

Expression of SCCmec cassette chromosome recombinases in methicillin-resistant Staphylococcus aureus and Staphylococcus epidermidis.

OBJECTIVES: Methicillin resistance in staphylococci is mediated by the mecA gene, which is carried on the staphylococcal cassette chromosome mec (SCCmec). SCCmec is responsible for vertical and horizontal transfer of methicillin resistance. Horizontal transfer implies first SCCmec excision from the chromosome. Site-specific excision is catalysed by the Ccr recombinases, which are encoded by ccrAB genes located on the cassette. The aim of this study is to determine the promoter activity of ccrAB genes in individual cells of methicillin-resistant Staphylococcus aureus (N315, COL and MW2) and Staphylococcus epidermidis (RP62A). One mutant cured of its SCCmec (N315EX) was also used. Exposure to various stresses was included in the study. METHODS: For each strain, translational promoter-green fluorescent protein (gfp) fusions were used to assess the levels of ccr promoter activity in individual cells. Analyses were performed using epifluorescence microscopy and flow cytometry. RESULTS: ccr promoter activity was observed in only a small percentage of cell populations. This 'bistable' phenotype was strain dependent (GFP was expressed in N315 and RP62A, but not in COL and MW2) and growth dependent (GFP-expressing cells decreased from approximately 3% to 1% between logarithmic and stationary growth phases). The ccr promoter of strain N315 displayed normal promoter activity when expressed in SCCmec-negative N315EX. Likewise, the ccr promoter of strain COL (which was inactive in COL) showed normal N315-like activity when transformed into N315 and N315EX. CONCLUSIONS: SCCmec excision operates through bistability, favouring a small fraction of cells to 'sacrifice' their genomic islands for transfer, while the rest of the population remains intact. Determinants responsible for the activity of the ccr promoter were not located on SCCmec, but were elsewhere on the genome. Thus, the staphylococcal chromosome plays a key role in determining SCCmec stability and transferability.

“El Mediterráneo en el diálogo Norte-Sur”: III Curso Internacional de Defensa. Jaca (Huesca), 19-23 de septiembre de 1995

Del 19 al 23 de setembre de 1995 es va celebrar a Jaca (Osca) el III Curs Internacional de Defensa, amb el títol específic “ El Mediterrani en el Diàleg Nord Sud”, organitzat per la Càtedra Miguel de Cervantes de l’Acadèmia General Militar i la Universitat de Saragossa. Els objectius assenyalats pels organitzadors es van centrar a potenciar l’intercanvi d’opinions entre especialistes i representants de les institucions sobre aspectes polítics, socials, econòmics i de defensa que afecten l’espai geopolític de les dues riberes del Mediterrani, i a analitzar els mecanismes de cooperació que actuen a l’àrea i la política de la Unió Europea a la zona

Phénotype de la trisomie 9q distale chez un enfant présentant un chromosome surnuméraire remanié [t(X;9)]. [Distal 9q trisomy phenotype in a patient with a supernumerary rearranged chromosome [t(X:9)] (author's transl).]

A child with clinical features associated a trisomy for the distal part of 9q was shown to have the following abnormal chromosome complement : 47,XY,+t)X;9) (Xpter yields Xq24:9q31 yields 9qter), inv 9(p11q13), var 14 (14pQFQ34).

Consommation d'alcool des hommes de 19 ans : résultat d'une enquête auprès de 1004 hommes des trois régions linguistiques de Suisse

Résumé de l'étude La consommation d'alcool chez les adolescents et les jeunes adultes est une préoccupation de santé publique majeure dans de nombreux pays. En Suisse, comme ailleurs, la consommation à risque épisodique ou binge drinking (BD) est associée dans cette tranche d'âge à une morbidité et une mortalité élevées. Il a été clairement démontré que le BD pouvait entraîner des conséquences néfastes sur la santé mais aussi des répercussions sur la vie familiale, sociale et professionnelle. Le but de cette étude menée durant l'été 2002 a été de mesurer les habitudes de consommation d'alcool, en particulier la prévalence et les conséquences du BD, dans une population particulièrement à risque, à savoir les hommes de 19 ans. En élargissant notre échantillon à toute la Suisse, nous avons également cherché à savoir s'il existe des différences notables dans le mode de consommation dans sept différentes régions des trois zones linguistiques principales du pays (Suisse romande, alémanique et italienne). Résultats : 1'004 hommes âgés de 19 ans des trois régions linguistiques principales de Suisse ont accepté de remplir un questionnaire de santé pendant leur journée de recrutement de l'Armée entre mai et août 2002. Considérant les 881 questionnaires analysables, plus des trois quarts (78.3%) rapportent au moins un épisode de BD au cours des 12 derniers mois dont 269 sujets (30.5%) au plus 1x/mois et 421 sujets (47.8%) au moins 2x/mois. De plus, 379 sujets (40.0%) ont expérimenté au moins 3 problèmes liés à leur consommation d'alcool au cours des 12 derniers mois, et le nombre de ces problèmes semble augmenter graduellement avec la fréquence du BD. Parmi les 687 sujets consommateurs d'alcool modérés (<14 boissons/semaine), 252 (36.7%) rapportent un épisode de BD au plus 1 x/mois, parmi lesquels 82 (32.5%) ont expérimenté au moins 3 problèmes liés à la consommation d'alcool au cours des 12 derniers mois; alors que 246 sujets (35.8%) ont une consommation de type BD au moins 2x/mois parmi lesquels 128 sujets (52%) ont expérimenté au moins 3 problèmes. Parmi les sept centres visités, les régions de Martigny, Brigue et Lausanne présentaient des taux particulièrement élevés de BD et de buveurs excessifs par rapport aux autres centres évalués. Conclusions : La consommation d'alcool de type BD est fréquente dans cet échantillon d'hommes de 19 ans et elle est associée à de nombreux problèmes, même chez les sujets ayant un volume global de consommation considéré comme modéré.

Early estimates of the effectiveness of the 2011/12 influenza vaccine in the population targeted for vaccination in Spain, 25 December 2011 to 19 February 2012.

We present early estimates of influenza vaccine effectiveness (VE) in the population targeted for vaccination, during 25 December 2011 to 19 February 2012. The adjusted VE was 55% (95% CI: 3 to 79) against any type of influenza virus and 54% (95% CI: 1 to 79) against influenza A(H3N2) virus. This suggests a moderate protective effect of the vaccine in the targeted population in a late influenza epidemic with limited match between vaccine and circulating strains.

Metastasis of renal cell carcinoma to the buccal mucosa 19 years after radical nephrectomy

Renal cell carcinoma (RCC) has high metastatic potential, which requires early diagnosis to optimize the chance of cure. Metastasis of RCC to the head and neck region is less common and metastasis to the buccal mucosa is extremely rare. This phenomenon occurs mostly in patients with generalized dissemination, especially with lung metastases. In this article we report a case of buccal mucosa metastasis from RCC in a 65-year-old man who presented 19 years after undergoing a left radical nephrectomy for clear cell RCC. Surgical excision of the buccal lesion was performed without evidence of recurrence or new metastatic lesions after 6 years of followup. To our knowledge, this is the first case of metastasis to the buccal mucosa from a RCC reported in the literature.

Prenatal detection of rare chromosomal autosomal abnormalities in Europe.

The aim of the present study was to evaluate the prenatal detection of rare chromosomal autosomal abnormalities by ultrasound (US) examination. Data were obtained from 19 congenital malformation registries from 11 European countries, between 01/07/96 and 31/12/98. A total of 664,340 births were covered and 7,758 cases with congenital malformations were recorded. Rare autosomal abnormalities were diagnosed in 114 cases (6.6%) from a total of 1,738 chromosome abnormalities. There were a wide variety of autosomal abnormalities: the most common were deletions (33 cases), duplications (32 cases), trisomies of chromosomes 8, 9, 10, 14, 15, and 16 (23 cases), and unbalanced rearrangements (19 cases). Out of these cases, 45.6% were detected prenatally by US examination due to the presence of congenital anomaly. As for the types of chromosomal anomaly, unbalanced rearrangements and deletions were the most frequently detected by US. A high percentage of cases with balanced rearrangements were associated with severe congenital anomalies. The most frequent congenital anomalies detected by US were cystic hygroma (20.6%), central nervous system defects (17.6%), cardiac defects (13.2%), and diaphragm defects (10.3%). This large series offers useful information about prenatal diagnosis by US of congenital defects associated with rare autosomal abnormalities and it provides a valuable knowledge about outcome. Fetal anomalies detected by US that were associated with rare autosomal abnormalities were significantly more frequent than those associated with common chromosomal abnormalities (45.6 vs. 34.7%). This study indicates the need to increase the detection of congenital anomalies by US.

Chromosomal rearrangements and gene flow over time in an inter-specific hybrid zone of the Sorex araneus group.

Most hybrid zones have existed for hundreds or thousands of years but have generally been observed for only a short time period. Studies extending over periods long enough to track evolutionary changes in the zones or assess the ultimate outcome of hybridization are scarce. Here, we describe the evolution over time of the level of genetic isolation between two karyotypically different species of shrews (Sorex araneus and Sorex antinorii) at a hybrid zone located in the Swiss Alps. We first evaluated hybrid zone movement by contrasting patterns of gene flow and changes in cline parameters (centre and width) using 24 microsatellite loci, between two periods separated by 10 years apart. Additionally, we tested the role of chromosomal rearrangements on gene flow by analysing microsatellite loci located on both rearranged and common chromosomes to both species. We did not detect any movement of the hybrid zone during the period analysed, suggesting that the zone is a typical tension zone. However, the gene flow was significantly lower among the rearranged than the common chromosomes for the second period, whereas the difference was only marginally significant for the first period. This further supports the role of chromosomal rearrangements on gene flow between these taxa.

4-7-19, stade Pershing, [Lawrence] Shields, Américain, à l'arrivée de la course de relais de 3000 m [des Jeux interalliés, le n°835 William C. Gray, membre du relais américain, lève le poing en signe de victoire] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 54716