Azacitidine for the treatment of lower risk myelodysplastic syndromes : a retrospective study of 74 patients enrolled in an Italian named patient program.

BACKGROUND: Azacitidine induces responses and prolongs overall survival compared with conventional care regimens in patients who have high-risk myelodysplastic syndromes (MDS). However, limited data are available concerning the efficacy and safety of azacitidine in patients who have lower risk MDS. METHODS: The authors retrospectively evaluated 74 patients with International Prognostic Scoring System low-risk or intermediate 1-risk MDS, who received azacitidine on a national named patient program. At baseline, 84% of patients were transfusion-dependent, 57% had received erythropoietin, and 51% were aged >70 years. Azacitidine was administered subcutaneously for 5 days (n = 29 patients), 7 days (n = 43 patients), or 10 days (n = 2 patients) every month at a dose of 75 mg/m(2) daily (n = 45 patients) or at a fixed dose of 100 mg daily (n = 29 patients) and for a median of 7 cycles (range, 1-30 cycles). RESULTS: According to the 2006 International Working Group criteria, overall response rate (ORR) was 45.9%, including complete responses (10.8%), partial responses (9.5%), hematologic improvements (20.3%), and bone marrow complete responses (5.4%). The ORR was 51.6% in 64 patients who completed > or = 4 cycles of treatment. The median duration of response was 6 months (range, 1-30 months). After a median follow-up of 15 months, 71% of patients remained alive. A survival benefit was observed in responders versus nonresponders (94% vs 54% of patients projected to be alive at 2.5 years, respectively; P < .0014). The most common grade 3 or 4 adverse events were myelosuppression (21.6%) and infection (6.8%). CONCLUSIONS: The current results indicated that azacitidine may be a feasible and effective treatment for patients with lower risk MDS

Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis:a randomised, double-blind, placebo-controlled, phase 2b trial

Background: Lung delivery of plasmid DNA encoding the CFTR gene complexed with a cationic liposome is a potential treatment option for patients with cystic fibrosis. We aimed to assess the efficacy of non-viral CFTR gene therapy in patients with cystic fibrosis. Methods: We did this randomised, double-blind, placebo-controlled, phase 2b trial in two cystic fibrosis centres with patients recruited from 18 sites in the UK. Patients (aged ≥12 years) with a forced expiratory volume in 1 s (FEV1) of 50–90% predicted and any combination of CFTR mutations, were randomly assigned, via a computer-based randomisation system, to receive 5 mL of either nebulised pGM169/GL67A gene–liposome complex or 0·9% saline (placebo) every 28 days (plus or minus 5 days) for 1 year. Randomisation was stratified by % predicted FEV1 (&lt;70 vs ≥70%), age (&lt;18 vs ≥18 years), inclusion in the mechanistic substudy, and dosing site (London or Edinburgh). Participants and investigators were masked to treatment allocation. The primary endpoint was the relative change in % predicted FEV1. The primary analysis was per protocol. This trial is registered with ClinicalTrials.gov, number NCT01621867. Findings: Between June 12, 2012, and June 24, 2013, we randomly assigned 140 patients to receive placebo (n=62) or pGM169/GL67A (n=78), of whom 116 (83%) patients comprised the per-protocol population. We noted a significant, albeit modest, treatment effect in the pGM169/GL67A group versus placebo at 12 months' follow-up (3·7%, 95% CI 0·1–7·3; p=0·046). This outcome was associated with a stabilisation of lung function in the pGM169/GL67A group compared with a decline in the placebo group. We recorded no significant difference in treatment-attributable adverse events between groups. Interpretation: Monthly application of the pGM169/GL67A gene therapy formulation was associated with a significant, albeit modest, benefit in FEV1 compared with placebo at 1 year, indicating a stabilisation of lung function in the treatment group. Further improvements in efficacy and consistency of response to the current formulation are needed before gene therapy is suitable for clinical care; however, our findings should also encourage the rapid introduction of more potent gene transfer vectors into early phase trials

I fenomeni demografici nel corso di vita familiare

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Potential and Effective Support Networks of Young Italian Adults

International literature on individual behavior has shown the importance of the network of relationships binding individuals to the people who are close to them in everyday life. Family and other role relations are important sources of emotional and instrumental support, as well as social companionship. For the Italian scenario, the 2003 Generations and Gender Survey offers some challenges for constructing ego-centered support networks based on reasonable assumptions of the frequency of contacts and residential proximity of respondents with kin, friends and neighbors. Focusing on young Italian adults aged 18\u201334 years who are single or have a partner, we define two kinds of support networks\u2014the potential support ego network and the effective support family network\u2014with the aim of analyzing the effects of network characteristics (size and composition) on the probability of receiving help. Our findings show that couples received more support and more often than singles. Although singles\u2019 potential support networks were more characterized by no family ties than the ones of partners, the availability of a \u2018\u2018comprehensive\u2019\u2019 network or a network not \u2018\u2018encapsulated\u2019\u2019 only in the family increased the probability of receiving help in both groups. Moreover, gender differences provide evidence of distinct behavior between partners in activating their network for (family) support

GOLDENHAR'S SYNDROME: CASE REPORT.

La S. di Goldenhar è una patologia plurimalformativa rara descritta per la prima volta nel 1950. è caratterizzata da varie anomalie: dermoidi epibulbari, appendici auricolari e malformazioni all'orecchio. l'eziologia di questa rara malattia non è appieno compresamostrando varaibilità genetica e cause sconosciute. lo scopo del laboro è illustrare un nostro caso di una bambina di 9 anni

EVALUATION OF REFRACTIVE STATUS 10 YARS AFTER MIOPIC PHOREFRACTIVE KERATECTOMY

La PRK si e dimostrata una tecnica efficace nella correzione dei difetti miopici fino a 6 diotrrie con una buoma stabilizzazione dei risultati a lungo termine (10 anni), mentre nelle correzioni al di sopra di tale valore questa stabilità non si conferm

Social Support Networks of Italian Couples

During the last decades, researchers have shown great interest in the topic of social support and international literature has illustrated the importance of the network of relationships that bind an individual to the people who are close to him in his everyday life. This set of people represents the \u201csocial space\u201d surrounding individuals (Pattison et al., 2004). The social space can take shape in the (immediate or extended) family and the circles of friends, workmates, or neighbors; it can generate strong or weak ties that interact with individual choices, and it can take the form of emotional support, instrumental support, or social companionship. According to this line of research, we intend: i) to analyze the Potential Support Ego (PSE)-centered networks of Italian couples along the different phases of family formation; ii) to extract structurally similar groups (PSE-network typologies) from partners\u2019 ego-networks by means of multivariate techniques for categorical data. More specifically, our research questions concern: the characteristics of partners\u2019 ego-social support networks; the types of help couples receive from people outside the immediate family; the effect of network typologies on the probability of receiving help in the household life course

COGAN'S SYNDROME: CASE REPORT.

La S. di Cogan è una patologia sistemica immuno-mediata con frequente interessamento di strutture oculari e audio-vestibolari. Sebbene la cheratite interstiziale in assenza di cause infetti-ve è la classica forma di interessamento oculare, possono rinvenirsi anche altre cause non infiam-matorie oculari. Il danno audio-vestibulare è difficile da trattare e può concludersi con una profonda perdita dell'udito. Scopo del lavoro è quello di illustrare un raro caso clinico di S. di Cogan in un paziente di 28 anni