Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization

<p>Abstract</p> <p>Background</p> <p>Routine cytogenetic investigations for ovarian cancers are limited by culture failure and poor growth of cancer cells compared to normal cells. Fluorescence <it>in situ </it>Hybridization (FISH) application or classical comparative genome hybridization techniques are also have their own limitations in detecting genome imbalance especially for small changes that are not known ahead of time and for which FISH probes could not be thus designed.</p> <p>Methods</p> <p>We applied microarray comparative genomic hybridization (A-CGH) using one mega base BAC arrays to investigate chromosomal disorders in ovarian adenocarcinoma in patients with familial history.</p> <p>Results</p> <p>Our data on 10 cases of ovarian cancer revealed losses of 6q (4 cases mainly mosaic loss), 9p (4 cases), 10q (3 cases), 21q (3 cases), 22q (4 cases) with association to a monosomy X and gains of 8q and 9q (occurring together in 8 cases) and gain of 12p. There were other abnormalities such as loss of 17p that were noted in two profiles of the studied cases. Total or mosaic segmental gain of 2p, 3q, 4q, 7q and 13q were also observed. Seven of 10 patients were investigated by FISH to control array CGH results. The FISH data showed a concordance between the 2 methods.</p> <p>Conclusion</p> <p>The data suggest that A-CGH detects unique and common abnormalities with certain exceptions such as tetraploidy and balanced translocation, which may lead to understanding progression of genetic changes as well as aid in early diagnosis and have an impact on therapy and prognosis.</p

El mantenimiento para las "Estaciones del Arte" en Nápoles

Las &ldquo;Estaciones del Arte&rdquo; nacen a partir de un proyecto promovido por la Administraci&oacute;n Municipal de N&aacute;poles, junto con la Empresa Metronapoli, para realizar un plan estrat&eacute;gico de fomento y localizar en la l&iacute;nea 1 el eje portador de la movilidad con la construcci&oacute;n de nuevas estaciones, que se convierten en ocasi&oacute;n de recualificaci&oacute;n urbana para algunos puntos neur&aacute;lgicos de la ciudad. De las 34 estaciones del Sistema Metronapoli, 13 son aquellas definidas como &ldquo;Estaciones del Arte&rdquo;, 9 de la l&iacute;nea uno (Tab. 1) y 4 de la l&iacute;nea seis, dise&ntilde;adas por: &Oacute;scar Tusquets Blanca, Karim Rashid, Atelier Mendini, Gae Aulenti, Domenico Orlacchio, Michele Capobianco y Renato Miano. La propuesta de los proyectistas de acuerdo con el cr&iacute;tico de arte Achille Bonito Oliva, encargado por el Ayuntamiento de N&aacute;poles de la direcci&oacute;n art&iacute;stica, ha transformado los espacios de tr&aacute;nsito de las estaciones en lugares de encuentro con el arte contempor&aacute;neo para los ciudadanos que diariamente utilizan las l&iacute;neas 1 y 6. Se trata de una asignaci&oacute;n ins&oacute;lita del arte, en un lugar de paso, definido a menudo como &ldquo;non luogo&rdquo; del transporte p&uacute;blico, que se vuelve una escenograf&iacute;a de una operaci&oacute;n cultural de gran envergadura, en la que se ven implicados los nombres m&aacute;s importantes del arte contempor&aacute;neo. Con su patrimonio art&iacute;stico compuesto por unas 200 obras realizadas por 95 artistas Metronapoli constituye un ejemplo &uacute;nico de museo descentrado y distribuido en el &aacute;rea urbana, que exprime el deseo de querer interactuar e integrarse con el territorio, contribuyendo no solamente a mejorar la movilidad urbana sino tambi&eacute;n a dar un valor adicional a la ciudad desde el punto de vista &eacute;tico y est&eacute;tico, e incidiendo en el &aacute;mbito socio-cultural. Con este proyecto, el arte contempor&aacute;neo encuentra una amplia difusi&oacute;n en la capital de la regi&oacute;n Campania desde el a&ntilde;o 1995, cuando por entonces la administraci&oacute;n promovi&oacute; un proyecto denominado &laquo;gli Annali delle Arti&raquo; y otras iniciativas dirigidas a un p&uacute;blico a menudo poco atra&iacute;do por este g&eacute;nero de arte.Tópico 2: Patrimonio Arquitectónico, Ingenieril y Arqueológico (urbano, rural, industrial, religioso, funerario). Construcciones en Tierra. Intervenciones en construcciones con patologías estructurales (aplicación de refuerzos). Técnicas de limpieza y conservación. Sostenibilidad (iluminación, ventilación, acústica, climatización, etc.) Biodeterioro del Patrimonio y técnicas de intervención sobre distintos sustratos

The SURPRISE demonstrator: a super-resolved compressive instrument in the visible and medium infrared for Earth Observation

While Earth Observation (EO) data has become ever more vital to understanding the planet and addressing societal challenges, applications are still limited by revisit time and spatial resolution. Though low Earth orbit missions can achieve resolutions better than 100 m, their revisit time typically stands at several days, limiting capacity to monitor dynamic events. Geostationary (GEO) missions instead typically provide data on an hour-basis but with spatial resolution limited to 1 km, which is insufficient to understand local phenomena. In this paper, we present the SURPRISE project - recently funded in the frame of the H2020 programme – that gathers the expertise from eight partners across Europe to implement a demonstrator of a super-spectral EO payload - working in the visible (VIS) - Near Infrared (NIR) and in the Medium InfraRed (MIR) and conceived to operate from GEO platform -with enhanced performance in terms of at-ground spatial resolution, and featuring innovative on-board data processing and encryption functionalities. This goal will be achieved by using Compressive Sensing (CS) technology implemented via Spatial Light Modulators (SLM). SLM-based CS technology will be used to devise a super-resolution configuration that will be exploited to increase the at-ground spatial resolution of the payload, without increasing the number of detector’s sensing elements at the image plane. The CS approach will offer further advantages for handling large amounts of data, as is the case of superspectral payloads with wide spectral and spatial coverage. It will enable fast on-board processing of acquired data for information extraction, as well as native data encryption on top of native compression. SURPRISE develops two disruptive technologies: Compressive Sensing (CS) and Spatial Light Modulator (SLM). CS optimises data acquisition (e.g. reduced storage and transmission bandwidth requirements) and enables novel onboard processing and encryption functionalities. SLM here implements the CS paradigm and achieves a super-resolution architecture. SLM technology, at the core of the CS architecture, is addressed by: reworking and testing off-the-shelf parts in relevant environment; developing roadmap for a European SLM, micromirror array-type, with electronics suitable for space qualification. By introducing for the first time the concept of a payload with medium spatial resolution (few hundreds of meters) and near continuous revisit (hourly), SURPRISE can lead to a EO major breakthrough and complement existing operational services. CS will address the challenge of large data collection, whilst onboard processing will improve timeliness, shortening time needed to extract information from images and possibly generate alarms. Impact is relevant to industrial competitiveness, with potential for market penetration of the demonstrator and its components

Male Oxidative Stress Infertility (MOSI): Proposed Terminology and Clinical Practice Guidelines for Management of Idiopathic Male Infertility

Despite advances in the field of male reproductive health, idiopathic male infertility, in which a man has altered semen characteristics without an identifiable cause and there is no female factor infertility, remains a challenging condition to diagnose and manage. Increasing evidence suggests that oxidative stress (OS) plays an independent role in the etiology of male infertility, with 30% to 80% of infertile men having elevated seminal reactive oxygen species levels. OS can negatively affect fertility via a number of pathways, including interference with capacitation and possible damage to sperm membrane and DNA, which may impair the sperm’s potential to fertilize an egg and develop into a healthy embryo. Adequate evaluation of male reproductive potential should therefore include an assessment of sperm OS. We propose the term Male Oxidative Stress Infertility, or MOSI, as a novel descriptor for infertile men with abnormal semen characteristics and OS, including many patients who were previously classified as having idiopathic male infertility. Oxidation-reduction potential (ORP) can be a useful clinical biomarker for the classification of MOSI, as it takes into account the levels of both oxidants and reductants (antioxidants). Current treatment protocols for OS, including the use of antioxidants, are not evidence-based and have the potential for complications and increased healthcare-related expenditures. Utilizing an easy, reproducible, and cost-effective test to measure ORP may provide a more targeted, reliable approach for administering antioxidant therapy while minimizing the risk of antioxidant overdose. With the increasing awareness and understanding of MOSI as a distinct male infertility diagnosis, future research endeavors can facilitate the development of evidence-based treatments that target its underlying cause

[Tri-test: clinical considerations on 1784 cases].

To evaluate the triple screen serum test as a noninvasive screening test for expectant mothers > 35 years old, who are not usually considered for invasive screening for trisomy 21. 1784 tri-tests (triple serum screening tests) were performed on expectant mothers between their 15th and 18th week of pregnancy, using the radioimmunological Ria-Kodak with an Alpha program (Logical Medical System LTD) with a cut-off value of 1:350. 244 positive equal to 13.60%. The percentage of false positives was respectively 12.9% (age 35). Only in two of these cases did we have a positive response in amniocentesis for a fetus affected with Down syndrome. Of the 1540 patients with a negative tri-test, one woman gave birth to a fetus with Down syndrome. Our study revealed a sensitivity of 66%. The elevated number of false positives has led us to decide on a variation on the cut off in the future: from 1:350 to 1:300

Contribution of genetic factors to renal lesions in the stroke-prone spontaneously hypertensive rat.

Stroke-prone spontaneously hypertensive rats (SHRSP) develop renal lesions more frequently than the closely related control strain, the stroke-resistant SHR. The aim of this study was to investigate the contribution of genetic factors to the enhanced susceptibility to renal damage of SHRSP in an SHRSP/SHR F2 intercross by means of a genotype/phenotype cosegregation analysis. For this purpose, 154 6-week-old F2-SHRSP/SHR rats (79 male, 75 female) were fed a stroke-permissive Japanese diet for 4 weeks. Systolic blood pressure (SBP) was recorded at the end of the dietary period. Renal damage was scored from 0 to 3, and 274 genetic markers polymorphic between SHR and SHRSP were genotyped. Linkage of genotype markers to the degree of renal disease was determined by chi2 test. Experimental threshold level to declare linkage was calculated by QTL cartographer. SBP was not correlated to renal damage (rho coefficient, 0.201; P=NS). Grade 2 and grade 3 lesions were more frequent in male than in female rats (P=0.01). Two loci, D1Rat238, on chromosome 1 and the IGF receptor-binding protein 4 (Rbp4g) on chromosome 10, were significantly linked to the degree of renal damage, with SHRSP allele being aggressive at D1Rat238 locus and protective at Rbp4g locus. In male rats only, the SHRSP allele at one locus on chromosome 16, D16Mit2, was associated with a more severe degree of renal disease. Our results demonstrate that in this intercross, susceptibility to renal damage is influenced by several genetic loci acting independently from high blood pressure levels and also shows a sexual dimorphis

STERILITA': NUOVO APPROCCIO MOLECOLARE E CITOGENETICA. ANALISI DELLA LETTERATURA

In the therapeutic procedure of conjugal fertility, the use of intracytoplasmic sperm injection (ICSI) has opened new possibilities when conventional in vitro fertilization (IVF) techniques are unsuccessful. Cytogenetic studies showed the presence of genetic anomalies in foetuses conceived with this technique. Starting from these considerations, through a data collection of the literature, the authors report the latest scientific findings on this problem. They show the limits of the knowledge about genetic risks linked to these techniques, increasingly imposing rigorous medical behavior and conscious choices of the couple