Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5–9, received 3–5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs. The megalimbs score showed significant improvement (P = 0.01) in 5 of the 6 patients. Motor function did not change. Respiratory function deteriorated in all. CsA treatment corrected mitochondrial dysfunction, increased muscle regeneration, and decreased the number of apoptotic nuclei. Results from this study demonstrate that long-term treatment with CsA ameliorates performance in the limbs, but not in the respiratory muscles of UCMD patients, and that it is well tolerated. These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised

Current trends on subtotal petrosectomy with cochlear implantation in recalcitrant chronic middle ear disorders

Objective. To establish the safety and effectiveness of subtotal petrosectomy with cochlear implantation in patients affected by chronic middle ear disorders to refractory to previous surgical treatments. Methods. A multicentre, retrospective study was conducted on patients affected by recalcitrant chronic middle ear disorders who underwent cochlear implantation in combi-nation with subtotal petrosectomy. Patients’ details were collected from databases of 11 Italian tertiary referral centres. Additionally, a review of the most updated literature was carried out. Results. 55 patients were included with a mean follow-up time of 44 months. Cholestea-toma was the most common middle ear recurrent pathology and 50.9% of patients had an open cavity. 80% of patients underwent a single stage surgery. One case of explantation for device failure was reported among the 7 patients with post-operative complications. Conclusions. Subtotal petrosectomy with cochlear implantation is a benchmark for management of patients with recalcitrant chronic middle ear disorders. A single stage procedure is the most recommended strategy. Optimal follow-up is still debated. Further studies are required to investigate the role of this surgery in paediatric patients. © Società Italiana di Otorinolaringoiatria e Chirurgia Cervico-Facciale

Epidemiology of orofacial clefts in Emilia Romagna and Tuscany Regions

Background and aim Epidemiological information gathered through Birth defects surveillance is an important adjunct to carrying out clinical and etiological research. Methods An Italian epidemiological investigation on Orofacialclefts (OFCs) conducted by the Congenital Malformation Registries of Emilia/Romagna (http://www.registroimer.it/) and Tuscany (http://www.rtdc.it/) in the period 2001–2011 identified 751 of OFC cases among 724.944 with an overall birth prevalence of 1.04/1,000. Birth prevalence of OFC variessignificantly in Europe ranging from 6,2 to 22,9 with a European mean value of1,45, showing a clear difference between the north and south of Europe (http://www.eurocat-network.eu/). The complex model of inheritance and the frequently conflicting results in different populations on the role of genes that constitute risk factors, suggest the presence of real biological differences. Results Recorded cases included 166 (22%) CL, 286 (38%) CLP and 299 (40%) CP. A predominance of males among CL (P) (M/F 1,60) and of females among CP (M/F 0,79) as confirmed. Among 751 of OFC cases, 661 were live births (88.0%), 7 stillbirths (0.9%), while 83 (11.1%) were terminations of pregnancy.522 cases (69%) were isolated, 118 cases (16%) OFC were present in recognised condition, and 111 cases (15%) were associated with other congenital malformations (MCA). The study confirmed that cardiovascular (27%), musculoskeletal (21%) and central nervous system (21%) defects are frequently associated. Conclusions Thus a routine screening for other malformations may need to be considered in infants with OFC and a multidisciplinary approach of these patients to be organised starting from birth

Anemizzazione acuta grave in un neonato VLBW

none6Caso clinico: raro caso di anemizzazione acuta grave in un neonato pretermine affetto da emiperitoneo.noneE.Ballardini; S.Fanaro; G.Garani; P.Guerrini; C.Vella; A.FranchellaBallardini, Elisa; Fanaro, Silvia; Garani, Giampaolo; Guerrini, Pietro; Vella, Claudio; Franchella, Andre