I progetti gestiti dai Coordinatori: analisi del loro profilo e successo

Obiettivo. Descrivere la storia dei progetti affidati/ gestiti dai Coordinatori infermieristici ospedalieri. Metodi. \uc8 stato incluso un campione di 56 Coordinatori in ruolo da almeno un anno nei reparti di 13 Ospedali del nord Italia, contattati con criterio di convenienza. Tramite un\u2019intervista strutturata sono stati raccolti dati sui progetti gestiti nel 2009, tipologia, origine (bottom up; top down), il numero di operatori coinvolti e stato del progetto al momento dell\u2019intervista (concluso, incompleto, abbandonato). Risultati. Nel 2009 i Coordinatori hanno gestito 114 progetti, in media 1.8/ciascuno (\ub11.2): 94 (82.5%) erano progetti di miglioramento, 17 (14.9%) di accreditamento, e 3 (2.6%) di ricerca. I progetti avevano coinvolto complessivamente 2.732 persone (73.7% dei team) con un impegno medio di 84 ore ciascuno; 55 (48.2%) progetti erano ancora in corso, 52 (45.6%) conclusi, 5 (4.4%) incompleti (ovvero mancavano di valutazione) mentre 2 (1.8%) erano stati abbandonati. Conclusioni. Gli infermieri sono coinvolti in numerosi progetti nelle aziende sanitarie. La fase pi\uf9 trascurata \ue8 il monitoraggio dei risultati e il loro consolidamento: i progetti assorbono molte risorse e per questo \ue8 fondamentale che siano correttamente gestiti e partano da reali problemi ed esigenze dei pazienti

An integrated precision medicine approach in major depressive disorder: a study protocol to create a new algorithm for the prediction of treatment response

Major depressive disorder (MDD) is the most common psychiatric disease worldwide with a huge socio-economic impact. Pharmacotherapy represents the most common option among the first-line treatment choice; however, only about one third of patients respond to the first trial and about 30% are classified as treatment-resistant depression (TRD). TRD is associated with specific clinical features and genetic/gene expression signatures. To date, single sets of markers have shown limited power in response prediction. Here we describe the methodology of the PROMPT project that aims at the development of a precision medicine algorithm that would help early detection of non-responder patients, who might be more prone to later develop TRD. To address this, the project will be organized in 2 phases. Phase 1 will involve 300 patients with MDD already recruited, comprising 150 TRD and 150 responders, considered as extremes phenotypes of response. A deep clinical stratification will be performed for all patients; moreover, a genomic, transcriptomic and miRNomic profiling will be conducted. The data generated will be exploited to develop an innovative algorithm integrating clinical, omics and sex-related data, in order to predict treatment response and TRD development. In phase 2, a new naturalistic cohort of 300 MDD patients will be recruited to assess, under real-world conditions, the capability of the algorithm to correctly predict the treatment outcomes. Moreover, in this phase we will investigate shared decision making (SDM) in the context of pharmacogenetic testing and evaluate various needs and perspectives of different stakeholders toward the use of predictive tools for MDD treatment to foster active participation and patients' empowerment. This project represents a proof-of-concept study. The obtained results will provide information about the feasibility and usefulness of the proposed approach, with the perspective of designing future clinical trials in which algorithms could be tested as a predictive tool to drive decision making by clinicians, enabling a better prevention and management of MDD resistance

A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene

A novel mutation, a C-->T transition at nucleotide 455 of the coding sequence of the ARSA gene, was found in a control individual during the search for metachromatic leukodystrophy mutations. Its distribution in three different populations was examined. The frequency of the T allele was 0.058, 0.025 and 0.033, in Italian, German and Greek populations, respectively. The mutation results in no amino acid substitution and can be identified as it creates a a polymorphic site for the restriction endonuclease N/aIII

Temporary bridging external fixation in distal tibial fracture.

Fractures that involve the distal area of the tibia are associated with a high percentage of complications. Soft tissue oedema, swelling, blisters, skin abrasions and open wounds could compromise the outcome of these lesions. The waiting time before surgery with ORIF is mostly due to soft tissue conditions. Early application of a simple joint-spanning external fixator would achieve the initial goal of stability and the respect of soft tissue, thereby decreasing the time necessary for definitive treatment. A total of 40 consecutive patients (22 male and 18 female) with a mean age of 52 years (range 17-82 years) with distal tibial fracture treated between January 2010 and January 2013 were evaluated. Early temporary external fixation was the first treatment step. Twenty patients had pilon fractures, characterised by the intra-articular involvement of the distal tibia with metaphyseal extension, and 20 patients had malleolar fracture-dislocation. Patients were divided into two groups, A and B. Group A comprised 10 patients with ankle fracture-dislocation and bone fragmentation, who were treated with a temporary bridging external fixation that was maintained after ORIF to exploit ligamentotaxis during the first phases of bone healing. In Group B (30 patients), the external fixation was removed after ORIF. The results of the study are in line with the recent literature: temporary external fixation in high-energy trauma and fracture-dislocation of the ankle enables soft tissue to be restored, which facilitates postoperative assessment of bone fragments by CT scan. The complication rate in this study was 5% in patients with malleolar fractures and 20% in patients with pilon fractures. The maintenance of temporary external fixation after ORIF synthesis during the entire first stage of bone healing seems to be a good method of treatment that has a low rate of soft tissue complications

Splicing mutation causes infantile Sandhoff disease

no abstract availabl