Commentary. Common criteria among States for storage and use of dried blood spot specimens after newborn screening

Biological samples collected in biobanks are a resource with significant research potential. The Italian Joint Group cNB - cNBBSV (National committee of Bioethics - National committee for Biosecurity, Biotechnologies and Life Sciences) published a document reporting recommendations on storage and use of dried blood spot (DBS) and on the development of a National Network of Regional Newborn Screening Repositories for collection of residual DBS. Several ethical questions (about consent, possible use of genetic information, unanticipated possible usages for research purposes) rise from residual newborn screening specimens collections. Moreover, legal and ethical controversies are accentuated by the conflicts between the interests of sample donors, biobank holders, researchers and the public. To overcome these difficulties the identification of a few criteria for storage and research usage of DBS is crucial

Biobanche. Aspetti scientifici ed etico-giuridici

La biobanca quale raccolta di materiali biologici umani offre alla ricerca medica un numero fino a pochi anni orsono inimmaginabile di reperti omogenei per certe caratteristiche e di informazioni da essi desumibili. Talora, si pensi alla banche di sangue cordonale, offre altres\uec elementi che possono essere utilizzati in ambito terapeutico. Si tratta, quindi, di una risorsa caratterizzata da una peculiare finalizzazione solidaristica. Ma quanto essa mette a disposizione \ue8 straordinariamente delicato: perch\ue9 se ne potrebbe far uso per gli scopi pi\uf9 diversi; perch\ue9 \ue8 in grado di fornire conoscenze sensibili sulla salute del donatore e dei suoi consanguinei; perch\ue9 potrebbe suscitare interesse da punti di vista del tutto differenti rispetto a quello sanitario. Gli elementi biologici umani sono espressione dell\u2019identit\ue0 di un individuo e ne portano i caratteri. Ciascuno, pertanto, ha il diritto e il dovere di sovrintendere al loro utilizzo, prestando il proprio consenso sulla base di un\u2019adeguata identificazione dell\u2019ambito di ricerca presente e futura (o di gestione per fini terapeutici) cui siano destinati o escludendo tipologie di utilizzo ritenute inaccettabili. Tale responsabilit\ue0 non viene meno solo perch\ue9 si renda irriconoscibile, mediante procedure di anonimizzazione, il rapporto tra un certo materiale biologico e l\u2019individuo da cui proviene. Quel rapporto, del resto, deve poter essere ricostruito ai fini della comunicazione di dati che abbiano interesse sanitario (da realizzarsi sempre attraverso un serio counseling medico e psicologico). La sensibilizzazione a donare materiali biologici s\u2019intreccia cos\uec con l\u2019esigenza che questi siano gestiti in modo trasparente e scientificamente qualificato, come pure con la necessit\ue0 di un costante dialogo tra i donatori e le loro famiglie, la comunit\ue0 dei ricercatori e tutti i potenziali beneficiari delle attivit\ue0 svolte in una biobanca. Il volume, dunque, raccoglie interventi che provengono da competenze diverse (biologia, medicina, filosofia, diritto, bioetica), miranti a evidenziare nodi problematici e a formulare proposte per fini di regolamentazione etica e giuridica

Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT Study): Interim results

PURPOSE: To prospectively compare clinical breast examination (CBE), mammography, ultrasonography (US), and contrast material-enhanced magnetic resonance (MR) imaging for screening women at genetic-familial high risk for breast cancer and report interim results, with pathologic findings as standard. MATERIALS AND METHODS: Institutional review board of each center approved the research; informed written consent was obtained. CBE, mammography, US, and MR imaging were performed for yearly screening of BRCA1 or BRCA2 mutation carriers, first-degree relatives of BRCA1 or BRCA2 mutation carriers, or women enrolled because of a strong family history of breast or ovarian cancer (three or more events in first- or second-degree relatives in either maternal or paternal line; these included breast cancer in women younger than 60 years, ovarian cancer at any age, and male breast cancer at any age). RESULTS: Two hundred seventy-eight women (mean age, 46 years +/- 12 [standard deviation]) were enrolled. Breast cancer was found in 11 of 278 women at first round and seven of 99 at second round (14 invasive, four intraductal; eight were <or=10 mm in diameter). Detection rate per year was 4.8% (18 of 377) overall; 4.3% (11 of 258) in BRCA1 or BRCA2 mutation carriers and first-degree relatives of BRCA1 or BRCA2 mutation carriers versus 5.9% (seven of 119) in women enrolled because of strong family history; and 5.3% (nine of 169) in women with previous personal breast and/or ovarian cancer versus 4.3% (nine of 208) in those without. In six (33%) of 18 patients, cancer was detected only with MR imaging. Sensitivity was as follows: CBE, 50% (95% confidence interval [CI]: 29%, 71%); mammography, 59% (95% CI: 36%, 78%); US, 65% (95% CI: 41%, 83%); and MR imaging, 94% (95% CI: 82%, 99%). Positive predictive value was as follows: CBE, 82% (95% CI: 52%, 95%); mammography, 77% (95% CI: 50%, 92%); US, 65% (95% CI: 41%, 83%); and MR imaging, 63% (95% CI: 43%, 79%). CONCLUSION: Addition of MR imaging to the screening regimen for high-risk women may enable detection of otherwise unsuspected breast cancers

[Correspondance adressée à Michel-Ange].

Contient : Ammanati, D ; Daccio d'Agnolo ; Daccio de Montelupo ; Delli, Valerio ; Benti, Donato ; Bertini, Domenico, ditto Vopolino ; Boscherello, Tommaso di Piero ; Bronzino, Agnolo ; Megiardini, Giuliano ; Buoninsegni, Domenico ; Calcagni, Tiberio ; Cellini, Benvenuto ; Condivi, Ascagno ; Cosini, Silvio ; Cuccarello, Matteo ; Della Palla, Batista ; Talcone, Silvio ; Tancelli, Domenico ; Ferrucci, Andrea ; D'Olanda, Francesco ; Frizzi, Federigo ; Ghiberti, Vittorio ; Girardi, Marco ; Granacci, Francesco ; Di Antonino di Mazziolo, Jacopo, ditto Caldana ; Ceoni, Leone ; Cunardo, detto Cusone ; Menichella, Domenico, di Terranova ; D'Andrea di Guido, Michele ; Di Piero, Michele ; Mini, Antonio ; Mini, Giov.-Batt ; Pietro, Antonio ; Piloto (il) ; Pulina, Jacopo ; Quindici ; Ricciarelli, Daniele, da Volterra ; Rosselli, Pietro ; Rosso (il) ; Rustichi, Giov.-Franc ; Di Giovanni di Bertino Scarpellino, Sandro ; Da San Gallo, Francesco ; Sansovino, Andrea ; Sansovino, Jacopo ; Di Tommaso, Stefano ; Del Tangano, Ant ; Tedaldi, Francesco ; Di Dolfo, Tommaso ; Urbano, Piero, ditto da Pistoia ; Zachetta da Reggio, Bernardino ; Zachetta da Reggio, GiovanniNumérisation effectuée à partir d'un document de substitutionCopies XIXe s., papiers E. MüntzMüntz, E

Observation of Long-Range, Near-Side Angular Correlations in Proton-Proton Collisions at the LHC

Results on two-particle angular correlations for charged particles emitted in proton-proton collisions at center-of-mass energies of 0.9, 2.36, and 7 TeV are presented, using data collected with the CMS detector over a broad range of pseudorapidity (eta) and azimuthal angle ($\phi$). Short-range correlations in $\Delta\eta$, which are studied in minimum bias events, are characterized using a simple "independent cluster" parametrization in order to quantify their strength (cluster size) and their extent in $\eta$ (cluster decay width). Long-range azimuthal correlations are studied differentially as a function of charged particle multiplicity and particle transverse momentum using a 980 inverse nb data set at 7 TeV. In high multiplicity events, a pronounced structure emerges in the two-dimensional correlation function for particle pairs with intermediate transverse momentum of 1-3 GeV/c, 2.0 < |$\Delta\eta$| < 4.8 and $\Delta\phi \approx 0$. This is the first observation of such a long-range, near-side feature in two-particle correlation functions in $pp$ or $p\overline{p}$ collisions.Results on two-particle angular correlations for charged particles emitted in proton-proton collisions at center-of-mass energies of 0.9, 2.36, and 7 TeV are presented, using data collected with the CMS detector over a broad range of pseudorapidity (eta) and azimuthal angle (phi). Short-range correlations in Delta(eta), which are studied in minimum bias events, are characterized using a simple 'independent cluster' parametrization in order to quantify their strength (cluster size) and their extent in eta (cluster decay width). Long-range azimuthal correlations are studied differentially as a function of charged particle multiplicity and particle transverse momentum using a 980 inverse nb data set at 7 TeV. In high multiplicity events, a pronounced structure emerges in the two-dimensional correlation function for particle pairs with intermediate transverse momentum of 1-3 GeV/c, 2.0< |Delta(eta)| <4.8 and Delta(phi) near 0. This is the first observation of such a long-range, near-side feature in two-particle correlation functions in pp or p p-bar collisions

Description and performance of track and primary-vertex reconstruction with the CMS tracker

A description is provided of the software algorithms developed for the CMS tracker both for reconstructing charged-particle trajectories in proton-proton interactions and for using the resulting tracks to estimate the positions of the LHC luminous region and individual primary-interaction vertices. Despite the very hostile environment at the LHC, the performance obtained with these algorithms is found to be excellent. For tbar t events under typical 2011 pileup conditions, the average track-reconstruction efficiency for promptly-produced charged particles with transverse momenta of p(T) > 0.9GeV is 94% for pseudorapidities of |η| < 0.9 and 85% for 0.9 < |η| < 2.5. The inefficiency is caused mainly by hadrons that undergo nuclear interactions in the tracker material. For isolated muons, the corresponding efficiencies are essentially 100%. For isolated muons of p(T) = 100GeV emitted at |η| < 1.4, the resolutions are approximately 2.8% in p(T), and respectively, 10μm and 30μm in the transverse and longitudinal impact parameters. The position resolution achieved for reconstructed primary vertices that correspond to interesting pp collisions is 10–12μm in each of the three spatial dimensions. The tracking and vertexing software is fast and flexible, and easily adaptable to other functions, such as fast tracking for the trigger, or dedicated tracking for electrons that takes into account bremsstrahlung