Incidental orbital calcifications on computed tomography scans.

We retrospectively studied the computed tomography scans of the orbit in 75 patients in order to identify the presence of incidental calcifications (scleral and trochlear apparatus calcifications). These imaging findings should integrate the vast list of differential diagnosis of orbital calcifications, as they may help radiologists to distinguish these calcifications from orbital foreign bodies.Estudamos, retrospectivamente, tomografias computadorizadas de órbita de 75 pacientes, de maneira a identificar a presença de calcificações incidentais (esclerais e do aparato troclear). Estes achados devem ser incluídos no vasto diagnóstico diferencial das calcificações orbitárias. A familiaridade com seus achados de imagem pode ajudar o radiologista a diferenciá-las do diagnóstico de corpo estranho orbitário.UNIFESP-EPM DDIUNIFESP-EPM Departamento de OftalmologiaUNIFESP, EPM, DDIUNIFESP, EPM Depto. de OftalmologiaSciEL

Environmental stress, transposons and evolution

It has been shown that in flies and plants mutations in the stress protein Hsp90 induce a wide spectrum of heritable phenotypic variants. The interpretation was that Hsp90 is a capacitor of morphological evolution and buffers pre-existing genetic variation that is not expressed and accumulates in neutral conditions. This stress-sensitive storage and release of genetic variation by Hsp90 would favour adaptive evolution. However, our recent study has suggested a different explanation of these results (Specchia et al., 2010). It has been demonstrated that Hsp90 is involved in repression of transcription and mobilization of transposable elements in germ cells by affecting piRNA biogenesis. The reduction of HSP90 causes stress response-like activation and transposition of mobile elements along with a wide range of phenotypic variants due to the transposons insertions to the corresponding genes. In addition a molecular analysis of a phenotypic variant, isolated in Hsp90 mutant strain, has also shown a transposon insertion in the corresponding gene. Intriguingly, it has also found that other mutations that impair piRNA biogenesis as capable to induce phenotypic variation. This further indicates that the expression of morphological variability could be related to the disruption of the piRNA silencing mechanism. So that, we proposed that, in general, the stress causes the activation of transposons that induce de novo gene mutations affecting development pathways. Data on the relationship among Stress, mobile elements, genome and epigenomic modifications and their evolutionary significance will be presented

<i>Pneumocystis carinii</i> pneumonia in patients with malignant haematological diseases: 10 years' experience of infection in GIMEMA centres

Summary. A retrospective survey was conducted over a 10‐year period (1990–99) among 52 haematology divisions in order to evaluate the clinical and laboratory characteristics and outcome of patients with proven Pneumocystis carinii pneumonia (PCP) complicating haematological diseases. The study included 55 patients (18 with non‐Hodgkin's lymphoma, 10 with acute lymphoblastic leukaemia, eight with acute myeloid leukaemia, five with chronic myeloid leukaemia, four with chronic lymphocytic leukaemia, four with multiple myeloma, three with myelodysplastic syndrome, two with myelofibrosis and one with thalassemia) who developed PCP. Among these, 18 (33%) underwent stem cell transplantation; only two received an oral prophylaxis with trimethroprim/sulphamethoxazole. Twelve patients (22%) developed PCP despite protective isolation in a laminar airflow room. The most frequent symptoms were: fever (86%), dyspnoea (78%), non‐productive cough (71%), thoracic pain (14%) and chills (5%); a severe hypoxaemia was present in 39 patients (71%). Chest radiography or computerized tomography showed interstitial infiltrates in 34 patients (62%), alveolar infiltrates in 12 patients (22%), and alveolar–interstitial infiltrates in nine patients (16%). Bronchoalveolar lavage was diagnostic in 47/48 patients, induced sputum in 9/18 patients and lung biopsy in 3/8 patients. The diagnosis was made in two patients at autopsy. All patients except one started a specific treatment (52 patients trimethroprim/sulphamethoxazole, one pentamidine and one dapsone). Sixteen patients (29%) died of PCP within 30 d of diagnosis. Multivariate analysis showed that prolonged steroid treatment (P < 0·006) and a radiological picture of diffuse lung involvement (P < 0·003) were negative diagnostic factors

Use of DPB1 T-cell epitope algorithm among italian transplant centers: a survey on behalf of Associazione Italiana di Immunogenetica e Biologia dei Trapianti

The HLA-DPB1 locus has been demonstrated to have a significant role on patients' outcome after allogeneic HSCT, and the so-called T-cell epitope (TCE) algorithm has been incorporated in international guidelines for the selection of unrelated donors. The purpose of the present study is to measure, through a national survey conducted on behalf of the Associazione Italiana di Immunogenetica e Biologia dei Trapianti (AIBT), the extent of awareness and use of HLA-DPB1 TCE-based algorithms during the donor search. 89% of the HLA laboratories answered to a short questionnaire and the results showed a progressive increase of the laboratories typing DPB1 in patients and their potential donors during the search (from 44% to 79% during the 2010–2019 period) as well as the application of a TCE-based algorithm for the donor choice whenever possible (from 24% to 65% during the same period). The DP-permissiveness status is detailed in the official HLA typing report by 12%, 32% and 50% of laboratories in 2010, 2015 and 2019, respectively. The present data indicate an encouraging raise in the awareness of the HLA-DPB1 role in unrelated donor selection; noteworthy, mentioning the TCE-based permissiveness status in the HLA typing report of each potential unrelated donor represents a notable mean to raise awareness among transplant physicians and to support them in their task of choosing the best donor. Nonetheless, despite the compelling evidence of the predictive ability of TCE-based algorithms, further efforts are still needed to extend its application to all transplant centers in Italy