154 research outputs found
GENETIC AND EPIGENETIC MECHANISMS OF COMPLEX REPRODUCTIVE DISORDERS
No full textCommon, complex disorders are polygenic and multifactorial traits representing interactions between environmental, genetic and epigenetic risk factors. More often than not, contributions of these risk factors have been studied individually and this is especially true for complex reproductive traits where application of genomic technologies has been challenging and slow to progress. This thesis explores the potential of genetic and epigenetic components contributing to a better understanding of the biological pathways underlying disease risk in two specific female complex reproductive traits - polycystic ovary syndrome (PCOS) and preterm premature rupture of membranes (PPROM). The PCOS projects focus on characterization of a gene, DENND1A, whose association to PCOS has been established by Genome Wide Association Studies (GWAS) and is known to contribute to PCOS steroidogenic phenotype. In addition, differential microRNAs expression contributing to DENND1A expression regulation in PCOS theca cells was identified. The studies on PPROM utilize a Whole Exome Sequencing approach to identify rare variants in fetal genes contributing to extracellular matrix composition and synthesis contributing to PPROM risk. The results suggest that fetal contribution to PPROM is polygenic and is driven by a significant genetic burden of potentially damaging rare variants in genes contributing to fetal membrane strength and integrity. Tissue and location specific expression patterns of the Chromosome 21 miRNA cluster (miR-99a, miR-125b, let-7c) in fetal membranes from term pregnancies with spontaneous rupture were investigated. The results suggest that these miRNAs play potential roles in fetal membrane rupture and fetal membrane defects associated with T21
Psychological treatments in schizophrenia: II. Meta-analyses of randomized controlled trials of social skills training and cognitive remediation
No full textBackground. Social skills training and cognitive remediation are psychological techniques with considerable face validity for the treatment of negative symptoms of schizophrenia and their consequences. This paper provides a meta-analytical review of these treatments. It includes an appreciable number of randomized controlled trials, using comparisons against both standard care and other active interventions. However, the assessment of particular outcomes sometimes had to be based on single studies.Method. A detailed search strategy was used to identify randomized controlled trials of social skills training and cognitive remediation, primarily employing electronic databases. Randomized controlled trials (RCTs) that met predefined criteria were then subjected to meta-analysis on a variety of outcome measures.Results. There was no clear evidence for any benefits of social skills training on relapse rate, global adjustment, social functioning, quality of life or treatment compliance. Cognitive remediation had no benefit on attention, verbal memory, visual memory, planning, cognitive flexibility or mental state.Conclusions. Social skills training and cognitive remediation do not appear to confer reliable benefits for patients with schizophrenia and cannot be recommended for clinical practice
The Genetics of Polycystic Ovary Syndrome: From Genome-Wide Association to Molecular Mechanisms
No full textExpression patterns of the chromosome 21 MicroRNA cluster (miR-99a, miR-125b and let-7c) in chorioamniotic membranes
No full textAbstractTrisomy 21 (T21) is the most common chromosome abnormality in humans and is associated with a spectrum of phenotypes, including cognitive impairment, congenital heart defects and immune system defects. In addition, T21 is also associated with abnormalities of fetal membranes including chorioamniotic separation, delayed fusion of the chorioamniotic membranes, defects in syncytiotrophoblast formation, as well as amniocyte senescence. There is evidence indicating miRNAs encoded by sequences on chromosome 21 (Chr-21) are involved in several of the cognitive and neurological phenotypes of T21, but the role of Chr-21 derived miRNAs in fetal membrane abnormalities associated with T21 has not been investigated. In the current study, we determined the expression patterns of three miRNAs derived from a cluster on Chr-21 – hsa-miR-99a, hsa-miR-125b and hsa-let-7c in chorioamniotic membranes obtained from term pregnancies with spontaneous rupture (n = 20). Tissue and location specific expression patterns within the chorioamniotic membranes were identified. The rupture zone in the choriodecidua had distinct expression patterns compared to other fetal membrane locations. Despite the increased gene dosage associated with T21, the expression of all three miRNAs was reduced in cultured T21 amniocytes as compared to cultured euploid amniocytes. In silico analysis of experimentally validated targets of the three miRNAs suggest these Chr-21 derived miRNAs play a potential role in fetal membrane rupture and the fetal membrane defects associated with T21
Synthesis and optical characterization of ternary chalcogenide Cu3BiS3 thin film by spin coating
No full text
Glossario del primo cunto della Posilecheata di P. Sarnelli
No full textA partir de la lectura de l'edició preparada per E. Malato, aquest estudi pretén aprofundir en el coneixement d'un autor i una obra literària poc coneguts i, en particular, proposa un estudi del lèxic que apareix en ella. L'article conté un glossari del primer cuntode la Posilecheatade P. Sarnelli. Llegir aquest text en el dialecte napolità del segle XVII significa entrar en contacte amb un món ple de folklore, proverbis i expressions idiomàtiques que arrosseguen el lector al bigarrat món del poble napolità.Starting from the reading of the edition by E. Malato, this study aims at delving into an author and his little-known literary work. In particular, we propose a study of the lexicon contained in it. The article includes a glossary of the first cuntofrom Posilecheataby P. Sarnelli. Reading this text in the Neapolitan dialect of the seventeenth century allows to come into contact with a world full of folklore, proverbs and idioms that drag the reader into the colorful world of the Neapolitan people.A partir de la lectura de la edición preparada por E. Malato, este estudio pretende profundizar en el conocimiento de un autor y una obra literaria poco conocidos y, en particular, propone un estudio del léxico que aparece en ella. El artículo contiene un glosario del primer cuntode la Posilecheatade P. Sarnelli. Leer este texto en el dialecto napolitano del siglo XVII significa entrar en contacto con un mundo lleno de folclore, proverbios y expresiones idiomáticas que arrastran al lector al abigarrado mundo del pueblo napolitano.A partire dalla lettura dell’edizione a cura di E. Malato, questo studio si propone di approfondire la conoscenza di un autore e di un opera letteraria poco conosciuti e, in particolar modo, si propone uno studio del lessico in essa contenuta. Nell’articolo è riportato un glossario del primo cunto della Posilecheatadi P. Sarnelli. Leggere questo testo in dialetto napoletano del ‘600, vuol dire venire a contatto con un mondo ricco di folklore, proverbi e modi di dire che trascinano il lettore nel colorato mondo del popolo napoletano
- …
