De novo unbalanced translocations have a complex history/aetiology

We investigated 52 cases of de novo unbalanced translocations, consisting in a terminally deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal portion of another chromosome or its opposite end was transposed. Array CGH, whole-genome sequencing, qPCR, FISH, and trio genotyping were applied. A biparental origin of the deletion and duplication was detected in 6 cases, whereas in 46, both imbalances have the same parental origin. Moreover, the duplicated region was of maternal origin in more than half of the cases, with 25% of them showing two maternal and one paternal haplotype. In all these cases, maternal age was increased. These findings indicate that the primary driver for the occurrence of the de novo unbalanced translocations is a maternal meiotic non-disjunction, followed by partial trisomy rescue of the supernumerary chromosome present in the trisomic zygote. In contrast, asymmetric breakage of a dicentric chromosome, originated either at the meiosis or postzygotically, in which the two resulting chromosomes, one being deleted and the other one inv-dup del, are repaired by telomere capture, appears at the basis of all inv-dup del translocations. Notably, this mechanism also fits with the origin of some simple translocations in which the duplicated region was of paternal origin. In all cases, the signature at the translocation junctions was that of non-homologous end joining (NHEJ) rather than non-allelic homologous recombination (NAHR). Our data imply that there is no risk of recurrence in the following pregnancies for any of the de novo unbalanced translocations we discuss here

Analisi dei tempi d\u2019attesa tra le varie fasi di gestione dei carcinomi mammari screening-detected a Trieste nel biennio 2013-2014: come si pu\uf2 migliorare?

Gli indicatori relativi ai tempi di attesa sono difficili da rispettare, come recentemente evidenziato al XIII Convegno ONS 2015 . Per questo motivo \ue8 fondamentale identificare in quale momento della gestione dei carcinomi screening-detected si concentrino i ritardi e stabilirne le cause (se attribuibili alla paziente o all\u2019organizzazione del programma o intrinseci al tipo di lesione) cos\uec da proporre mirate modifiche migliorative. Metodi: L\u2019analisi riguarda 146 carcinomi screening-detected consecutivi (biennio 2013-2014). Sono stati misurati i tempi tra le varie fasi diagnostiche (Mammografia di I\ub0 livello, Richiamo II\ub0 livello, I\ub0 approfondimento cito/microistologico, Comunicazione diagnosi) e i tempi chirurgici (Visita chirurgica, Intervento chirurgico, Referto istologico con marcatori biologici, Visita oncologica). Per ogni fase sono stati calcolati i tempi medi/mediani rappresentati tramite box plot e giustificati gli outliers.Risultati: La latenza nella presa in carico chirurgica \ue8 legato alla complessit\ue0 degli esami preoperatori (3) (tempo mediano tra richiamo al II\ub0 livello ed intervento: 53 giorni (se unico esame pre-operatorio) vs 73 (se pi\uf9 di un esame pre-operatorio, p<0.0001), mentre rispetto ad un recente studio (4) il tempo mediano tra visita chirurgica e intervento non \ue8 aumentato per i casi con necessit\ue0 di RM (28 vs 26 giorni, p=0.13), perch\ue9 gi\ue0 programmata in fase preoperatoria. Per i casi con mastectomia sempre con ricostruzione, si registra un tempo medio dalla visita chirurgica all\u2019intervento di 7 giorni superiore rispetto alle quadrantectomie. Ulteriore criticit\ue0 \ue8 il tempo mediano tra intervento e visita oncologica (44 giorni), attribuibile in parte ad un \u201critardo\u201d nella disponibilit\ue0 dei marcatori biomolecolari (soprattutto HER2/FISH) ed in parte a rinvii dell\u2019appuntamento da parte della paziente stessa Conclusioni: Soltanto un attento monitoraggio del turnaround time dell\u2019intero percorso delle pazienti con carcinoma screening detected consente l\u2019identificazione dei punti di debolezza su cui intervenire efficacemente per garantire il rispetto degli indicatori

La gestione del paesaggio tra governo e governance territoriale. Continuità e innovazione

All'interno della ricerca "Gli interventi paesaggistico-ambientali nelle politiche regionali di sviluppo rurale", il volume presenta i contributi sul tema della interazione tra attori e strumenti nello sviluppo rurale e sulle concettualizzazioni del paesaggio in questo contesto emergenti. Attenzione viene posta sia alle esperienze maturate nell'attuazione dei Piani di Sviluppo Rurale, sia al di fuori della regia pubblica

La gestione del paesaggio tra governo e governance territoriale. Continuit\ue0 e innovazione

All'interno della ricerca "Gli interventi paesaggistico-ambientali nelle politiche regionali di sviluppo rurale", il volume presenta i contributi sul tema della interazione tra attori e strumenti nello sviluppo rurale e sulle concettualizzazioni del paesaggio in questo contesto emergenti. Attenzione viene posta sia alle esperienze maturate nell'attuazione dei Piani di Sviluppo Rurale, sia al di fuori della regia pubblica

Gli interventi paesaggistico-ambientali nelle politiche regionali di sviluppo rurale pianificazione, strumenti di intervento e di valutazione

CAP reforms, from the Nineties to Mid Term Review, aim to start important structural measures, that improve relationship between agriculture and environment. In this context the multifunctionality in agriculture seems to be a condition to produce environmental and landscape externalities, but there are not many studies about positive externalities analysis and evaluation. This paper regards agriculture landscapes, that have aesthetic, ecological and cultural value. The authors present some results of the national research "Landscape-environmental measures in rural development regional policies". They particularly examine critically the components of integration and interaction among different dimensions of landscape actions: the dimension concerning the territorial and local planning, the one about the economic instruments of policy (effectiveness and efficiency in agri-environmental measures), the other about the evaluation (monetary and not)

Pediatric digital replantations: regenerativedermis in a salvage procedure.

A 28 month-old male was admitted (April 2010) at our department for a complete amputation of the right thumb at the meta-carpal-phalangeal joint level due to a crush-avulsion injury. (Fig.1) The amputated stump was replanted with restoration of arterial and venous flow. After four days, an arterial thrombosis required a secondary revision of the original anastomosis. Nevertheless, in the following days a progressive necrosis of apical superficial cutaneous tissues was observed: surprisingly, underlying tissues were effectively vascularized in spot areas. Thus, an amputation at the inter-phalangeal joint was performed in association with a soft tissue coverage by means of a regenerative dermal substitute (INTEGRATM, Integra Life Sciences Corporation, USA) and, after three weeks, of a full thickness skin graft over the dermal substitute. At the 19-months clinical follow-up the skin graft appeared smooth and viable. Relative grip strength and relative pinch strength were comparable to those of the contra-lateral hand: the ability to accomplish preselected daily activities was preserved. Globally, we considered it an excellent aesthetic and functional outcome

Heterologous lyophilized collagen in the treatment of chronic cutaneous lesions with loss of substance

The efficacy and tolerability of lyophilized heterologous collagen in the topical treatment of cutaneous lesions of various aetiology characterized by loss of substance were investigated in 22 patient (12 females, 10 males), aged 46.40 \ub1 10.70. After 3-4 weeks of treatment the ulcers had healed completely, with viable elastic tissue, in 17 patients. In 3 cases the lesions had improved considerably but had not healed completely after 4 weeks of treatment; a much longer time was required before a complete cure was obtained, probably on account of the patients' poorer general condition. In 2 cases in which the collagen was applied on the site from which partial thickness skin grafts had been taken the formation of an excess of granulation tissue hindering epithelization of the wounds was observed; for this reason, treatment with lyophilized collagen was discontinued. The preparation was well tolerated in all cases. Lyophilized collagen proved effective in promoting the formation of granulation tissue and in expediting cicatrization