Départ des Comédiens italiens : [estampe] / gravé par Louis Jacob ; d'après Watteau

Référence bibliographique : Dacier et Vuaflart, 184

Design and evaluation of a panel os single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

MicroRNAs (miRNA) are recognized posttranscriptional gene repressors involved in the control of almost every biological process. Allelic variants in these regions may be an important source of phenotypic diversity and contribute to disease susceptibility. We analyzed the genomic organization of 325 human miRNAs (release 7.1, miRBase) to construct a panel of 768 single-nucleotide polymorphisms (SNPs) covering approximately 1 Mb of genomic DNA, including 131 isolated miRNAs (40%) and 194 miRNAs arranged in 48 miRNA clusters, as well as their 5-kb flanking regions. Of these miRNAs, 37% were inside known protein-coding genes, which were significantly associated with biological functions regarding neurological, psychological or nutritional disorders. SNP coverage analysis revealed a lower SNP density in miRNAs compared with the average of the genome, with only 24 SNPs located in the 325 miRNAs studied. Further genotyping of 340 unrelated Spanish individuals showed that more than half of the SNPs in miRNAs were either rare or monomorphic, in agreement with the reported selective constraint on human miRNAs. A comparison of the minor allele frequencies between Spanish and HapMap population samples confirmed the applicability of this SNP panel to the study of complex disorders among the Spanish population, and revealed two miRNA regions, hsa-mir-26a-2 in the CTDSP2 gene and hsa-mir-128-1 in the R3HDM1 gene, showing geographical allelic frequency variation among the four HapMap populations, probably because of differences in natural selection. The designed miRNA SNP panel could help to identify still hidden links between miRNAs and human disease.

Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders

Genetic and functional data indicate that variation in the expression of the neurotrophin-3 receptor gene (NTRK3) may have an impact on neuronal plasticity, suggesting a role for NTRK3 in the pathophysiology of anxiety disorders. MicroRNA (miRNA) posttranscriptional gene regulators act by base-pairing to specific sequence sites, usually at the 3'UTR of the target mRNA. Variants at these sites might result in gene expression changes contributing to disease susceptibility. We investigated genetic variation in two different isoforms of NTRK3 as candidate susceptibility factors for anxiety by resequencing their 3'UTRs in patients with panic disorder (PD), obsessive-compulsive disorder (OCD), and in controls. We have found the C allele of rs28521337, located in a functional target site for miR-485-3p in the truncated isoform of NTRK3, to be significantly associated with the hoarding phenotype of OCD. We have also identified two new rare variants in the 3'UTR of NTRK3, ss102661458 and ss102661460, each present only in one chromosome of a patient with PD. The ss102661458 variant is located in a functional target site for miR-765, and the ss102661460 in functional target sites for two miRNAs, miR-509 and miR-128, the latter being a brain-enriched miRNA involved in neuronal differentiation and synaptic processing. Interestingly, these two variants significantly alter the miRNA-mediated regulation of NTRK3, resulting in recovery of gene expression. These data implicate miRNAs as key posttranscriptional regulators of NTRK3 and provide a framework for allele-specific miRNA regulation of NTRK3 in anxiety disorders.

Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean).

BACKGROUND: As little such data is available in African populations, we investigated the prevalence of ADPKD and the impact of the disease in the Seychelles islands, where approximately 65% of the population is of African descent and 30% of Caucasian or mixed descent. METHODS: Prevalent cases were identified over a 3-year period by requesting all the doctors in the country (most of them are employed within a national health system) to refer all presumed or confirmed cases and by systematically examining the family members of all confirmed cases. The diagnosis was based on standard criteria including ultrasonographic findings and family history. RESULTS: Forty-two cases were identified in this population of 74,331 inhabitants, a total prevalence (per 100,000 total population) of 57 (95% CI, 41-76). All but one of the cases were of Caucasian descent so that the prevalence rates of the disease in the populations of Black and Caucasian descents were respectively 2 (0-11) and 184 (132-249). The prevalence rates of the gene(s) carriers were estimated to be 75 (45-117) in the total population respectively 6 (0-33) and 236 (140-372) in the Black and Caucasian populations. Haplotype analysis in 58 cases from three families showed a common DNA fragment in all affected individuals. Cases had significantly higher blood pressure compared to the general population and 21% had serum creatinine higher than 120 mumol/l. Among the established pedigrees, mean age of death between 1960 and 1995 (haemodialysis was introduced in 1992) was younger in subjects with than those without ADPKD (50.5 vs 67.7 years; P < 0.001). CONCLUSIONS: In the Seychelles, ADPKD clusters in the Caucasian population (possibly a founder effect), is rare in individuals of black descent, and is associated with substantial clinical and survival impact.

Marseille. Collection de copies et de documents originaux concernant l'histoire de Marseille. Collection Mortreuil sur Marseille vol. 12 : Corps religieux (Préfecture des Bouches du Rhône. Archives de l’église d’Arcoules, du monastère de Saint Sauveur et des Grands Trinitaires de Marseille. Actes antérieurs au XIV e siècle. A.M. 1855.)

Copie manuscrite de documents d’archives : F. 1-91. Archives de l’Eglise d’Arcoules de Marseille. F. 92-104. Augustins. F. 105-149. Archives des Dominicains (precheurs) de Marseille. F. 150-153. Abbaye de l’Huveaune, prémontrés. F. 154-178. Frères Mineurs. F. 179-180. La Major. F. 181 -184. St Carmat. F. 185-186. St Etienne des îles Ratoneau. F. 187-191. St Jacques de Corrégie. F. 192-193. St Laurent. F. 194-195. Prieuré de St Lazare. F. 196-199. St Martin F. 200-206. St Michel et St Etienne du Plan. F. 207 -379. Archives du monastère de Saint Sauveur de Marseille. F. 381-387. Sainte Claire. F. 388-391. N.D. de Syon. F. 392 459. Archives des Grands Trinitaires de Marseille.

Vitae sanctorum. Pars I. Saints du mois de janvier.

Agnes (184). - Ascla (205). - Babillus (206 v). - Balthildis regina (243 v). - Concordius (20). -Emerentiana (204). - Felix, 19 kl. febr. (105). - Firminus (101). - Fructuosus etc. (189). - Furseus (114). - Genovefa (21 v). - Hilarius (92). - Julianus et Bas. (67). - Leucus, Tyrsus et Galenicus (227). -Lutianus (62). - Macra (59). - Marcellus papa (107 v). - Martina (7 v). - Nicolaus (258 v). - Patroclus (190 v). - Paula (213 v). - Policarpus (209 v). - Quintinus (34 v). - Remigius (98). - Rigobertus (36 v). - Sabinianus (239 v). - Saturninus, Davitus etc. (142). - Sebastianus (154 v). - Speusipphus El. et Mel. (132 v). - Sulpitius (138 v). - Symeon (49 v). - Theogenius (32). - Timotheus (202 v). - Vincentius (194).

Outcomes of patients on dual-boosted PI regimens: experience of the Swiss HIV cohort study.

Dual-boosted protease inhibitors (DBPI) are an option for salvage therapy for HIV-1 resistant patients. Patients receiving a DBPI in the Swiss HIV Cohort Study between January1996 and March 2007 were studied. Outcomes of interest were viral suppression at 24 weeks. 295 patients (72.5%) were on DBPI for over 6 months. The median duration was 2.2 years. Of 287 patients who had HIV-RNA >400 copies/ml at the start of the regimen, 184 (64.1%) were ever suppressed while on DBPI and 156 (54.4%) were suppressed within 24 weeks. The median time to suppression was 101 days (95% confidence interval 90-125 days). The median number of past regimens was 6 (IQR, 3-8). The main reasons for discontinuing the regimen were patient's wish (48.3%), treatment failure (22.5%), and toxicity (15.8%). Acquisition of HIV through intravenous drug use and the use of lopinavir in combination with saquinavir or atazanavir were associated with an increased likelihood of suppression within 6 months. Patients on DBPI are heavily treatment experienced. Viral suppression within 6 months was achieved in more than half of the patients. There may be a place for DBPI regimens in settings where more expensive alternates are not available.

Perdão e Esperança Na Promoção Da Saúde Mental Do Sénior

As sociedades modernas são estruturas duplamente envelhecidas, caracterizadas por uma maior longevidade dos seus membros e por uma menor taxa de natalidade, o que torna necessário a conjugação de esforços multidisciplinares para minorar as consequências desta realidade. Envelhecer com saúde, autonomia, independência, o mais tempo possível, constitui assim, hoje, um desafio à responsabilidade individual e colectiva. Com este estudo pretendeu-se conhecer de que forma é que o desenvolvimento das competências emocionais (perdão, esperança) é promotor da saúde mental do sénior. Teve como apoio uma metodologia empírica, exploratória e transversal, e como suporte análise de conteúdo e pesquisas bibliográficas. A amostra utilizada neste estudo é uma amostra de conveniência e é constituída por indivíduos residentes no Algarve (Portimão) e Alentejo (Vidigueira e Beja), composta de 82 idosos com idades compreendidas entre os 65 a 85 anos, sendo 31 do sexo masculino e 51 do sexo feminino. A recolha de informação foi efectuada através da aplicação de três instrumentos aos respectivos inqueridos: a escala sobre o Perdão (Oliveira, J.H. B., 2002); a escala de Esperança Estado (Snyder et al., 1996; Faria, M.C., 2000) – versão portuguesa; “Inventário Depressivo” (Beck, A. T., 1967), versão portuguesa de (Vaz-Serra, A. & Pio Abreu, J. L., 1973). Os resultados da aplicação dos instrumentos permitiram concluir que não houve influências do género, da idade e das habilitações académicas. Constatou-se que não existem correlações significativas entre os totais dos instrumentos. As análises efectuadas expõem valores significativos que nos permitem concluir que quanto maior é o perdão, maior é a esperança e maior é a depressão, por outro lado, quanto maior é a depressão menor é a esperança. Assim, coloca-se um desafio à Psicologia da Saúde: intervir na educação de idosos e na formação dos cuidadores dos mesmos.