Registri malformazioni Congenite della Toscana e dell\u27Emilia Romagna: aggiornamento sulla sorveglianza dei difetti del tubo neurale.

not availableIntroduzione: Il Network Italiano Promozione Acido Folico per la Prevenzione Primaria dei Difetti Congeniti ? una rete coordinata dall\u27ISS il cui obiettivo ? diffondere le conoscenze riguardo al ruolo dell\u27acido folico (AF) nel ridurre il rischio di malformazioni congenite gravi, in particolare dei difetti del tubo neurale (DTN), promuovendo il suo corretto impiego (raccomandazione della dose e del periodo di assunzione) tra le donne in et? fertile che stanno programmando una gravidanza. Nel 2006 sono stati pubblicati i risultati del progetto ISS "Registro Nazionale Malattie Rare" che ha utilizzato i dati dei registri dei difetti congeniti attivi in Italia (Nord-Est Italia, Emilia Romagna, Toscana, Campania, Sicilia), relativi al periodo 1996-2002, sulle malformazioni che sono o possono essere sensibili all\u27assunzione di AF (DTN, cardiopatie, schisi orofacciali, atresia/stenosi ano-rettale, onfalocele, difetti in riduzione degli arti e malformazioni urinarie). Per tutte le malformazioni analizzate, ad eccezione delle cardiopatie e delle malformazioni urinarie, era emersa una condizione di omogeneit?, sia per i nati che per i casi totali, comprensivi delle interruzioni di gravidanza (IVG), che aveva consentito di pervenire a valide stime di prevalenza a livello nazionale, indispensabili anche ai fini di una valutazione dell\u27impatto dell\u27utilizzo dell\u27AF negli anni successivi. Metodi: E\u27 stato effettuato un aggiornamento dei dati raccolti dai Registri Malformazioni Congenite della Toscana e dell\u27Emilia Romagna nel periodo 1996-2006 su circa 620.000 nati sorvegliati. I casi comprendono i nati vivi, le morti fetali oltre le 20 settimane di et? gestazionale e le IVG con DTN, anencefalia, spina bifida ed encefalocele. Sono state effettuate analisi del trend sui dati individuali di ciascun registro e sui dati complessivi rilevati dall\u27insieme dei due registri. Risultati: Sui dati totali non si segnala alcun trend statisticamente significativo, mentre sono state individuate condizioni di eterogeneit? a causa di andamenti non lineari della prevalenza osservata, dovuti alla presenza di alcuni picchi annuali (per i DTN negli anni 1998, 2000 e 2004, per l\u27anencefalia nel 1998 e per la spina bifida nel 1998 e nel 2004). Conclusioni: Tenendo in debita considerazione la modesta capacit? di risoluzione dello strumento osservazionale su un breve periodo, l\u27assenza di un trend decrescente per i DTN non ci permette di ipotizzare un effetto ascrivibile ad azione preventiva secondaria alla campagna di sensibilizzazione seguita all\u27attivazione del Network Italiano Promozione Acido Folico nel 2004. Presso l\u27ISS ? stato programmato un progetto specifico che comprende tra i vari obiettivi anche un\u27attivit? di sorveglianza da svolgersi in aree selezionate delle regioni coperte dai Registri MC. I risultati conseguiti consentiranno di valutare le dimensioni del fenomeno valutando l\u27impatto delle azioni di prevenzione primaria dell\u27utilizzo in epoca periconcezionale dell\u27AF, cos? come di aggiornare i risultati relativi alle precedenti indagini conoscitive sull\u27AF

Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy)

Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% of women seek counselling when already pregnant. Methods: data on 804 pregnant women out of 2 158 (37.3%) referred for genetic counselling in 2010 to three Clinical Genetic Services were retrospectively analysed. Patients referred only for advanced maternal age were analysed in a separate study. Results: the 804 pregnant women were referred for 932 counselling issues. 325 issues (34.9%) were identified during pregnancy and 607 (65.1%) were pre-existing. 81.2% of Italians compared to 41.8% of the non-Italians (P<0.01) had access to counselling before 13 weeks of gestation for risk factors present before pregnancy. An accurate genetic diagnosis was available in 25.0% of cases. In 21.7% of the cases an elevated a priori risk of >10% for the unborn child was established. Conclusions: genetic services provide 37.3% of counselling to pregnant women. Referral for genetic counselling during pregnancy can require considerable resources and pose significant ethical and organizational challenges. New models of pregnancy care in the community need to be developed. General practitioners and gynaecologists have an important role in the referral and in the defence of equity of access and a more structured approach to the participation of medical geneticists to primary practice should be considered

Biomolecular electronic devices based on self-organized deoxyguanosine nanocrystals.

We report on a new class of hybrid electronic devices based on a DNA nucleoside (deoxyguanosine lipophilic derivative) whose assembled polymeric ribbons interconnect a submicron metallic gate. The device exhibits large conductivity at room temperature, rectifying behavior and strong current-voltage hysteresis. The transport mechanism through the molecules is investigated by comparing films with different self-assembling morphology. We found that the main transport mechanism is connected to pi-pi interactions between guanosine molecules and to the formation of a strong dipole along ribbons, consistently with the results of our first-principles calculations

First-Principles Theory of Correlated Transport through Nanojunctions

Article on the first-principles theory of correlated transport through nanojunctions

Transport of Stratospheric Air Masses to the Nepal Climate Observatory–Pyramid (Himalaya; 5079 m MSL): A Synoptic-Scale Investigation

AbstractThis work analyzes and classifies stratospheric airmass transport events (ST) detected at the Nepal Climate Observatory–Pyramid (NCO-P; 27°57′N, 86°48′E, 5079 m MSL) Global Atmospheric Watch–World Meteorological Organization station from March 2006 to February 2008. For this purpose, in situ ozone (O3), meteorological parameters (atmospheric pressure and relative humidity), and black carbon (BC) are analyzed. The paper describes the synoptic-scale meteorological scenarios that are able to favor the development of ST over the southern Himalaya, by analyzing the meteorological fields provided by the ECMWF model (geopotential height, wind speed, and potential vorticity), satellite Ozone Monitoring Instrument data (total column ozone), and three-dimensional back trajectories calculated with the Lagrangian Analysis Tool (LAGRANTO) model. The study, which represents the first "continuous" classification of ST in the southern Himalaya, permitted classification of 94% of ST days within four synoptic-scale scenarios: stratospheric potential vorticity structures (PVS), subtropical jet stream (SJS), quasi-stationary ridges (QSR), and monsoon depressions (MD). SJS and PVS were the most frequent scenarios (48% and 30% of occurrences, respectively), QSR occurred for 12% of the ST days, and MD were detected only during the monsoon season (3%). SJS and PVS scenarios presented a peak frequency during the nonmonsoon seasons, when the jet stream and westerly disturbances influence atmospheric circulation over the southern Himalaya. During the identified ST, significant variations of O3 (+24%) and BC (−56%) were recorded relative to the averaged 2-yr mean values. On average, PVS and SJS were the most effective synoptic-scale scenarios in modifying the O3 and BC levels at NCO-P from postmonsoon to premonsoon seasons, and ST is one of the leading processes in defining the "background" BC variability at NCO-P

Ab-initio study of model guanine assemblies: The role of pi-pi coupling and band transport

Several assemblies of guanine molecules are investigated by means of first-principle calculations. Such structures include stacked and hydrogen-bonded dimers, as well as vertical columns and planar ribbons, respectively, obtained by periodically replicating the dimers. Our results are in good agreement with experimental data for isolated molecules, isolated dimers, and periodic ribbons. For stacked dimers and columns, the stability is affected by the relative charge distribution of the pi orbitals in adjacent guanine molecules. pi-pi coupling in some stacked columns induces dispersive energy bands, while no dispersion is identified in the planar ribbons along the connections of hydrogen bonds. The implications for different materials comprised of guanine aggregates are discussed. The bandstructure of dispersive configurations may justify a contribution of band transport (Bloch type) in the conduction mechanism of deoxyguanosine fibres, while in DNA-like configurations band transport should be negligible.Comment: 21 pages, 6 figures, 3 tables, to be published in Phys. Rev.

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3?2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies

Toward the effective surveillance of hypospadias.

Concern about apparent increases in the prevalence of hypospadias--a congenital male reproductive-tract abnormality--in the 1960s to 1980s and the possible connection to increasing exposures to endocrine-disrupting chemicals have underlined the importance of effective surveillance of hypospadias prevalence in the population. We report here the prevalence of hypospadias from 1980 to 1999 in 20 regions of Europe with EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers, 14 of which implemented a guideline to exclude glanular hypospadias. We also report data from the England and Wales National Congenital Anomaly System (NCAS). Our results do not suggest a continuation of rising trends of hypospadias prevalence in Europe. However, a survey of the registers and a special validation study conducted for the years 1994-1996 in nine EUROCAT registers as well as NCAS identified a clear need for a change in the guidelines for registration of hypospadias. We recommend that all hypospadias be included in surveillance, but that information from surgeons be obtained to verify location of the meatus, and whether surgery was performed, in order to interpret trends. Investing resources in repeated special surveys may be more cost-effective than continuous population surveillance. We conclude that it is doubtful whether we have had the systems in place worldwide for the effective surveillance of hypospadias in relation to exposure to potential endocrine-disrupting chemicals