Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome

A form of autosomal dominant macrothrombocytopenia is characterized by mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. Because this condition has so far received little attention, patients are subject to misdiagnosis and inappropriate therapy. To identify the molecular basis of this disease, 12 Italian families were studied by linkage analysis and mutation screening. Flow cytometry evaluations of platelet membrane glycoproteins (GPs) were also performed. Linkage analysis in 2 large families localized the gene to chromosome 17p, in an interval containing an excellent candidate, the GPIbα gene. GPIbα, together with other proteins, constitutes the plasma von Willebrand factor (vWF) receptor, which is altered in Bernard-Soulier syndrome (BSS). In 6 of 12 families, a heterozygous Ala156Val missense substitution was identified. Platelet membrane GP studies were performed in 10 patients. Eight were distinguished by a reduction of GPs comparable to that found in a BSS heterozygous condition, whereas the other 2, without the Ala156Val mutation, had a normal content of platelet GPs. In conclusion, the current study provides evidence that most (10 of 12) patients with an original diagnosis of autosomal dominant macrothrombocytopenia shared clinical and molecular features with the heterozygous BSS phenotype. The remaining 2 affected subjects represented patients with "true" autosomal dominant macrothrombocytopenia; the GPIb/IX/V complex was normally distributed on the surface of their platelets. Thus, the diagnosis of heterozygous BSS must always be suspected in patients with inherited thrombocytopenia and platelet macrocytosis

Glutathione S-transferase homozygous deletions and relapse in childhood acute lymphoblastic leukemia: a novel study design in a large Italian AIEOP cohort

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Arquitectura futurista

Presenta los siguientes textos: Antonio Sant'Elia, "La Arquitectura Futurista. Manifiesto; Umberto Boccioni, "Arquitectura futurista. Manifiesto"; Volt (Vicenzo Fani), "Del funanbulismo obligatorio o: suprimamos las plantas de las casas"; Enrico Prampolini, "La "Atmosferastruttura" - Bases para la arquitectura futurista"; Vincenzo Fani (Volt), "La Casa Futurista independiente-movil-desmontable-mecánica-divertida"; Virgilio Marchi, "Manifiesto de la arquitectura futurista dinámica, estado de ánimo y dramática"; Enrico Prampolini, "Arquitectura Futurista"; Cesar Augusto Poggi, "Arquitectura Futursita (sic) Poggi"; F.T. Marinetti, Angiolo Mazzoni, Mino Somenzi, "Manifiesto Futurista de la arquitectura aérea"Presenta una serie de manifiestos y textos sobre Arquitectura futurista. Dossier elaborado por Juan Agustín Mancebo. Traducción: Marta Morcill

Asymmetric inheritance of the apical domain and self-renewal of retinal ganglion cell progenitors depend on Anillin function.

Divisions that generate one neuronal lineage-committed and one self-renewing cell maintain the balance of proliferation and differentiation for the generation of neuronal diversity. The asymmetric inheritance of apical domains and components of the cell division machinery has been implicated in this process, and might involve interactions with cell fate determinants in regulatory feedback loops of an as yet unknown nature. Here, we report the dynamics of Anillin - an essential F-actin regulator and furrow component - and its contribution to progenitor cell divisions in the developing zebrafish retina. We find that asymmetrically dividing retinal ganglion cell progenitors position the Anillin-rich midbody at the apical domain of the differentiating daughter. anillin hypomorphic conditions disrupt asymmetric apical domain inheritance and affect daughter cell fate. Consequently, the retinal cell type composition is profoundly affected, such that the ganglion cell layer is dramatically expanded. This study provides the first in vivo evidence for the requirement of Anillin during asymmetric neurogenic divisions. It also provides insights into a reciprocal regulation between Anillin and the ganglion cell fate determinant Ath5, suggesting a mechanism whereby the balance of proliferation and differentiation is accomplished during progenitor cell divisions in vivo.journal articleresearch support, non-u.s. gov't2015 Mar 012015 02 05importe

Road traffic pollution and childhood leukemia: a nationwide case-control study in Italy

Background The association of childhood leukemia with traffic pollution was considered in a number of studies from 1989 onwards, with results not entirely consistent and little information regarding subtypes. Aim of the study We used the data of the Italian SETIL case-control on childhood leukemia to explore the risk by leukemia subtypes associated to exposure to vehicular traffic. Methods We included in the analyses 648 cases of childhood leukemia (565 Acute lymphoblastic–ALL and 80 Acute non lymphoblastic-AnLL) and 980 controls. Information on traffic exposure was collected from questionnaire interviews and from the geocoding of house addresses, for all periods of life of the children. Results We observed an increase in risk for AnLL, and at a lower extent for ALL, with indicators of exposure to traffic pollutants. In particular, the risk was associated to the report of closeness of the house to traffic lights and to the passage of trucks (OR: 1.76; 95% CI 1.03–3.01 for ALL and 6.35; 95% CI 2.59–15.6 for AnLL). The association was shown also in the analyses limited to AML and in the stratified analyses and in respect to the house in different period of life. Conclusions Results from the SETIL study provide some support to the association of traffic related exposure and risk for AnLL, but at a lesser extent for ALL. Our conclusion highlights the need for leukemia type specific analyses in future studies. Results support the need of controlling exposure from traffic pollution, even if knowledge is not complete

In vivo expression of natural killer cell inhibitory receptors by human melanoma-specific cytolytic T lymphocytes.

Natural killer (NK) receptor signaling can lead to reduced cytotoxicity by NK cells and cytolytic T lymphocytes (CTLs) in vitro. Whether T cells are inhibited in vivo remains unknown, since peptide antigen-specific CD8(+) T cells have so far not been found to express NK receptors in vivo. Here we demonstrate that melanoma patients may bear tumor-specific CTLs expressing NK receptors. The lysis of melanoma cells by patient-derived CTLs was inhibited by the NK receptor CD94/NKG2A. Thus, tumor-specific CTL activity may be decreased through NK receptor triggering in vivo

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

Scienza e realismo di Guillaume de Jerphanion [avec Bibliographie chronologique de Guillaume de Jerphanion s.j. (1877-1948)]

Vincenzo Poggi, Scienza e realismo di Guillaume de Jerphanion, p. 795-826. G. de Jerphanion merita la nostra ammirazione per il suo curriculum d'archeologo e di uomo di scienza. Ma la sua umanità si rivela in una trattativa diplomatica, meno conosciuta, condotta da lui quando i superiori religiosi lo inviano ripetutamente ad Ankara, nel triennio 1925-1927. Deve ottenere soddisfazione dal governo turco che ha confiscato beni dei Gesuiti durante la prima guerra mondiale. Jerphanion interrompe corsi e studi presso il Pontificio Istituto orientale, per affrontare la burocrazia turca. Difatti, viene, vede e vince, sua pure a costo di molta pazienza. Porta a termine la difficile missione e usufruisce di quel suo ultimo soggiomo turco per acquistare una conoscenza, ancora più profonda, dell'Asia Minore. Lo dimostrano le voci della sua bibliografia che risalgono a quel soggiomo. La statura morale di Guillaume de Jerphanion ne risulta ancora più imponente.Poggi Vincenzo. Scienza e realismo di Guillaume de Jerphanion [avec Bibliographie chronologique de Guillaume de Jerphanion s.j. (1877-1948)]. In: Mélanges de l'École française de Rome. Moyen-Age, tome 110, n°2. 1998. pp. 795-838

Da Livorno a Costantinopoli : edizione di lettera di Antonio M. Nacchi S. J. (1666-1746)

Donated by Klaus KreiserReprinted from in : La conoscenza dell'Asia e dell'Africa in Italia nei secoli, Volme: 1, 1984