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Summary Purpose To investigate the electroclinical features and the outcome of patients with typical absences starting before the 3 years of life. Methods We reviewed the clinical data of patients with absences started before 3 years observed over a 15-year period. Mutation analysis of SLC2A1 (GLUT-1) gene was performed when possible. Their clinical features were compared with those of subjects with a diagnosis of childhood absence epilepsy (CAE). Results Among 33 children with absence epilepsy starting before 3 years of life, there were 20 boys and 13 girls. Mean seizure onset was at 28.0±8.3 (range: 8–36) months of life. Two children displayed borderline intellectual functioning at long-term follow-up. Twenty-eight (85%) patients showed excellent response to therapy. Three subjects evolved into a different form of idiopathic generalized epilepsy (IGE). No SLC2A1 mutation was identified in 20 (60.6%) patients tested. The main clinical features of patients with early-onset absences did not differ from those of CAE except for increased prevalence of males ( p =0.002) and longer treatment duration ( p =0.001) in the former. Conclusions Strong similarities in the electroclinical features and outcome between children with early-onset absences and those with CAE support the view that these conditions are part of the wide spectrum of IGE.

Background: Family-centred care (FCC) is recognized as the model of best practice for the provision of services for children who have physical disabilities and their families. Objective: To assess the overall perception of FCC provided in an Italian network of 17 rehabilitation services, as perceived by parents of children with cerebral palsy and professionals, and to explore whether children, families, service providers and service-related characteristics influence parent satisfaction regarding service provision in an FCC practice. Methods: The Measure of Processes of Care (MPOC-20) for parents/caregivers and the Measure of Processes of Care for Service Providers (MPOC-SP) for healthcare providers were used. For the purposes of the study, an ad hoc information form was developed to collect information concerning children, families, service providers and services. Results: A total of 382 parents/caregivers and 269 healthcare providers completed the MPOC questionnaires. Parents and service providers both identified the domains for enabling partnerships and interpersonal sensitivity as a strength, while the domain relating to general information was always scored the lowest. An advanced maternal age, being a single parent, being unemployed and having lower socio-economic status were factors identified as individually predictive of lower FCC scores on the MPOC-20. Higher intensity treatment, inpatient services, primary healthcare settings and settings identified with limited financial resources and reduced space/time for each family were other variables significantly associated with less favourable MPOC-20 ratings. Conclusions: The perception of FCC provided was fairly positive, with some areas of improvement, such as the domain of provision of information. Professionals should, therefore, provide better communication and take more time in giving information and attention to parents. Potential sources of variation in parent perceptions of FCC based on family characteristics and the organization of services highlight the importance the need to support services through the provision of greater financial and human resources.

L'approccio alle cure centrato sulla famiglia è ormai riconosciuto come il modello di buona prassi nei Servizi dedicati ai bambini con disabilità e alle loro famiglie. Lo scopo di questo studio è quello di valutare la percezione della qualità delle cure, sia da parte delle famiglie che dei professionisti e la reale applicazione del concetto di FCC in una rete italiana di 17 servizi di riabilitazione e di esaminare la relazione tra caratteristiche del bambino, della famiglia, dei professionisti, dell'organizzazione dei servizi e il grado di soddisfazione per le cure ricevute.

The aim of our study was to assess long-term results of radiofrequency volumetric tissue reduction of inferior turbinates (RVTR). We performed a prospective long-term longitudinal evaluation of 305 patients affected by rhinitis (114 allergic and 191 non-allergic) who were unresponsive to medical treatment and underwent RVTR (January 2004 - December 2010). Subjects were followed for a mean period of 39.70 ± 19.41 months (range 24-60). Patients completed the NOSE-scale questionnaire pre- and post-operatively after 1 month and yearly for 5-years. Recurrence was assumed if the post-operative total NOSE score increased by at least 75% during follow-up and the patient restarted medical treatments. Estimation of relapse over time was performed by Kaplan-Meyer analyses. We documented overall good satisfaction of patients regarding the procedure, with a good rate of pain control and a low rate of complications. Post-operatively there was a significant improvement in nasal stuffiness, nasal obstruction and mouth breathing (p0.05). We observed a worsening trend for symptoms after 36 months with progressive increasing rate of recurrences that were significantly higher in allergic than non-allergic patients (p0.05). We also observed a slight worsening trend of global satisfaction of patients. Our study confirms the minor discomfort and low risk of side effects of RVTR. Our data showed good efficacy of the procedure in the majority of patients for at least 36 months after surgery, and in fact in this time period the cumulative probability to remain relapse-free was up to 0.8. In the following 2 years, we observed a worse temporal trend in term of recurrence rate, and in particular in allergic patients with a significant difference vs non-allergic individuals (p0.05).Lo scopo del nostro studio è stato quello di valutare i risultati a lungo termine della procedura di riduzione volumetrica dei turbinati inferiori mediante radiofrequenze (RVTR). Abbiamo eseguito una valutazione prospettica longitudinale a lungo termine di 305 pazienti affetti da rinite (114 allergici e 191 non allergici) refrattari alla terapia medica e sottoposti a intervento di RVTR (gennaio 2004 - dicembre 2010). I pazienti sono stati seguiti per un Follow-up medio di 39,70±19,41 mesi (minimo-24, massimo-60 mesi) e sono stati valutati mediante la somministrazione del questionario NOSE-scale prima e dopo l’intervento a distanza di un mese e successivamente ogni anno per 5 anni. I pazienti sono stati considerati affetti da recidiva durante il periodo di follow-up in caso di ricomparsa dei sintomi con un aumento del punteggio totale del NOSE scale di almeno il 75% e necessità di riassumere trattamenti medici. La ricorrenza è stata valutata mediante analisi di sopravvivenza con il metodo di Kaplan-Meyer. Complessivamente abbiamo documentato una buona soddisfazione dei pazienti per quanto riguarda la procedura, con un elevato controllo del dolore e poche complicanze. Nel post-operatorio abbiamo avuto un significativo miglioramento di ostruzione nasale e respirazione orale vicariante (p0,05). Dopo 36 mesi abbiamo osservato un peggioramento dei sintomi, in particolare, dopo 36 mesi con un progressivo crescente tasso di recidive significativamente più elevato nei pazienti allergici rispetto a quelli non-allergici (p0,05). Abbiamo anche osservato una leggera diminuizione della soddisfazione generale dei pazienti. Il nostro studio conferma la buona tollerabilità da parte dei pazienti della procedura di decongestione dei turbinati inferiori con radiofrequenze con un basso rischio di complicanze. I nostri dati confermano inoltre una buona efficacia a lungo termine nella maggior parte dei pazienti per almeno 36 mesi dopo l’intervento con una probabilità di rimanere liberi da recidiva in questo periodo sempre superiore a 0,8. Nei mesi successivi si assiste a una progressiva riduzione del beneficio clinico in particolare nei pazienti allergici, con una differenza statisticamente significativa rispetto ai pazienti non allergici (p0,05).

The aim of this study was to investigate the oncological outcomes in patients affected by oral carcinoma treated with radical compartmental surgery followed by microvascular flap reconstruction. We conducted a retrospective analysis on a cohort of 130 patients. All patients underwent ablative tumour resection (compartmental surgery) followed by immediate reconstruction with free flaps and adjuvant chemoradiotherapy, when necessary according to our tumour board and international guidelines. Disease-specific survival (DSS) curves were obtained using the Kaplan-Meier method. Log-rank test and generalised Wilcoxon test were used to investigate the most important prognostic factors on 5-year DSS. A Cox proportional hazards model was constructed to provide hazard ratios or relative risks for individual variables. 88.5% of patients were affected by SCC. There were 46 (35.4%) women and 84 (64.6%) men in the sample with a mean age of 58.5 years. At the end of the follow-up period, 36 (27.7%) patients died, only 3 of which for other causes. The 5-year DSS rate was 67.8% (S.E. 4.9%). In univariate Kaplan-Meier analysis and in multivariate Cox regression model, seven variables were found to have a significant relationship with DSS: T (p = 0.026) and N (p = 0.0001) status, clinical stage (according to the UICC TNM Sixth Edition) (p = 0.007), margins of resection (p = 0.001), extracapsular spread (p = 0.005), recurrence of disease (p = 0.00002) and treatment modality (evaluated as surgery alone or surgery + RT/CHT) (p = 0.004). Our results confirmed findings already reported in the literature, and allowed us to conclude that compartmental surgery combined with free flap reconstruction can increase survival in oral cancer patients.Obiettivo del presente studio è stato valutare i risultati oncologici della nostra casistica di pazienti affetti da tumore del cavo orale trattati mediante chirurgia compartimentale radicale seguita da ricostruzione mediante lembo microvascolare. Abbiamo condotto un'analisi retrospettiva su 130 casi. Tutti i pazienti sono stati sottoposti ad una resezione chirurgica della neoformazione seguita da una ricostruzione immediata mediante lembo libero e, quando necessario, in accordo con la valutazione espressa dal nostro tumor board e con le linee guida internazionali, ad un trattamento chemioradioterapico adjuvante. Le curve di sopravvivenza specifica per malattia (DSS) sono state ottenute mediante il metodo di Kaplan-Meier. Il test Long Rank e il Wilcoxon sono stati utilizzati per investigare i più importanti fattori influenzanti la sopravvivenza specifica per malattia a 5 anni. Per calcolare l'HR e il RR per le singole variabili è stato utilizzato un modello di Cox. L'88,5% dei pazienti è risultato affetto da una neoplasia a istologia squamocellulare. Il campione è risultato essere composto da 46 (35,4%) donne e 84 (64,6%) uomini con un età media di 58,5 anni. Al termine del periodo di follow up, 36 pazienti (27,7%) erano deceduti, 3 dei quali per altre cause. Il DSS è stato del 67,8% (S.E. = 4,9%). All'analisi univariata secondo Kaplan-Meier ed alla analisi multivariata con regressione di Cox sono state individuate sette differenti variabili aventi una relazione significativa con il DSS: T (p = 0,026) ed N (p = 0,0001), lo staging clinico (UICC TNM Sixth Edition) (p = 0,007), i margini di resezione (p = 0,001), l'extracapsular spread (p = 0.005), la recidiva di malattia (p = 0,00002) e la modalità di trattamento (sola chirurgia o chirurgia + RT/CHT) (p = 0,004). In nostri risultati sono risultati in linea con le osservazioni in letteratura, e ci permettono di sottolineare come la chirurgia ricostruttiva mediante lembo libero microvascolare possa incrementare la sopravvivenza nei pazienti con tumore del cavo orale.

PURPOSE: To assess incidence, indicators and outcome of satisfaction with antiepileptic drugs in children. METHODS: Multicenter, observational, open, prospective survey of children and adolescents with epilepsy with three-month follow-up. Included were patients aged 3-17 years with newly diagnosed ("new diagnosis") or chronic epilepsy ("old diagnosis") requiring treatment start or change. Satisfaction was assessed with the Hedonic Visual Scale or direct questions, depending on patient's age. Quality of life of adolescents (QOLIE-48) and of caregivers (SF-36) and predictors of (dis)satisfaction were also assessed. RESULTS: 293 patients completed the study. Most had generalized idiopathic epilepsy, and a disease lasting

The term RBC-transfusion-dependence is widely-used by hematologists to describe a condition of severe anemia typically arising when erythropoiesis is reduced such that a person continuously requires ≥ 1 RBC-transfusions over a specified interval. Defining a person as RBC-transfusion-dependent has important implications in diverse hematological disorders especially because it strongly-correlated with decreased survival. Conversely, becoming RBC-transfusion-independent or receiving fewer RBC-transfusions over a specified interval is defined as improvement or response in many disease- and/or therapy-setting. Whether this correlates with improved survival is controversial. We used a structured expert-panel consensus panel process to define RBC-transfusion-dependence and -independence or improvement. We suggest these definitions may prove useful to persons studying or treating these diseases.

SUMMARY In this series of patients, the underlay or overlay positioning of a graft achieves successful outcome for both repair of perforation and hearing function, with better hearing gain in the underlay group. In myringoplasty, the two most common techniques for positioning the graft relative to the remnant of both the tympanic membrane and the annulus are the "overlay" and the "underlay" techniques. 115 patients who underwent myringoplasty for tympanic membrane perforation secondary to chronic otitis media and/or trauma were included, and hearing function was evaluated. We prefer an overlay technique in subtotal perforations, in those involving the anterior and antero-inferior parts of the ear drum with respect to the handle of the malleus and in revision surgery. We reserve an underlay technique for smaller perforations and for those limited to the posterior part of the tympanic membrane. Of 115 cases, 63 underwent an overlay myringoplasty and 52 underlay myringoplasty. In the former group, five cases were anatomically unsuccessful, whereas in the second group there were three failures. The air bone gap improved significantly in both groups with a better hearing gain in the underlay group.

SUMMARY Parotid gland tumours account for 80% of all salivary gland neoplasms, 20% of these are malignant, but in daily clinical practice most parotid masses are operated on before obtaining the final histological diagnosis. This clinical setting further complicates the critical point of parotid surgery, which is the management of the facial nerve. In the present study, data were evaluated referring to 540 patients who underwent parotidectomy for a mass which was discovered to be a benign (470 cases) or a malignant (70 cases) neoplasm, between November 1994 and December 2007, at our Institution. The most significant single parameter in this series of malignancies regarding disease specific survival was the clinical involvement of the facial nerve at diagnosis (p = 0.006). Also for this reason, as there is no evidence that liberal VIIth nerve sacrifice improves prognosis, when it is not clinically involved, every attempt is made to dissect and preserve it. At present, the most complicated situation concerning nerve preservation may be, on the other hand, recurrence of a benign tumour, in particular pleomorphic adenoma, which, in our series, has a higher incidence (8.3%) of permanent facial dysfunction, than surgery with nerve preservation for malignancy (3.7%).