Hearing characterization in oculoauriculovertebral spectrum : a prospective study with 10 patients

Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first and second branchial arches, leading to structural abnormalities arising from it. The aim of this study is to verify the hearing features presented by patients with OAVS and provide additional information that may contribute to improvement of speech therapy. The sample consisted of 10 individuals diagnosed with OAVS and cared for by the Clinical Genetics Service. All patients underwent objective assessment of auditory function through tonal and vocal audiometry. This evaluation was completed using TOAE and BERA. The patient’s age ranged from 1 year and 9 months to 27 years and 4 months. At physical examination it was found that 10 had microtia, 7 preauricular tags, 6 low-set ears, 6 ear canal atresia, and 2 preauricular pits. Among the patients, five presented with abnormal hearing. Three patients had conductive hearing loss ranging from mild to moderate, and two patients had sensorineural hearing loss from mild to profound. Three patients had hearing loss in both ears. Speech-language disorders are common in children with OAVS. Thus, the referral to the audiologist and speech pathologist is indicated as soon as possible. Early recognition and detailed understanding of aspects related to the etiology, clinical features, and outcome of patients with OAVS are essential for their proper management

Mycobacterium lentiflavum Infection in Immunocompetent Patient

Mycobacterium lentiflavum is a recently described nontuberculous mycobacterium that has mainly clinical importance in young children with cervical lymphadenitis and in immunocompromised patients. We describe a case of chronic pulmonary infection in an immunocompetent patient. Our observation confirms clinical, diagnostic, and treatment difficulties in the management of M. lentiflavum infection

Evaluation of virological response and resistance profile in HIV-1 infected patients starting a first-line integrase inhibitor-based regimen in clinical settings

Background: Virological response and resistance profile were evaluated in drug-naïve patients starting their first-line integrase inhibitors (INIs)-based regimen in a clinical setting. Study design: Virological success (VS) and virological rebound (VR) after therapy start were assessed by survival analyses. Drug-resistance was evaluated at baseline and at virological failure. Results: Among 798 patients analysed, 38.6 %, 27.1 % and 34.3 % received raltegravir, elvitegravir and dolutegravir, respectively. Baseline resistance to NRTIs, NNRTIs, PIs and INIs was: 3.9 %, 13.9 %, 1.6 % and 0.5 %, respectively. Overall, by 12 months of treatment, the probability of VS was 95 %, while the probability of VR by 36 months after VS was 13.1 %. No significant differences in the virological response were found according to the INI used. The higher pre-therapy viremia strata was (<100,000 vs. 100,000-500,000 vs. > 500,000 copies/mL), lower was the probability of VS (96.0 % vs. 95.2 % vs. 91.1 %, respectively, P < 0.001), and higher the probability of VR (10.2 % vs. 15.8 % vs. 16.6 %, respectively, P = 0.010). CD4 cell count <200 cell/mm3 was associated with the lowest probability of VS (91.5 %, P < 0.001) and the highest probability of VR (20.7 %, P = 0.008) compared to higher CD4 levels. Multivariable Cox-regression confirmed the negative role of high pre-therapy viremia and low CD4 cell count on VS, but not on VR. Forty-three (5.3 %) patients experienced VF (raltegravir: 30; elvitegravir: 9; dolutegravir: 4). Patients failing dolutegravir did not harbor any resistance mutation either in integrase or reverse transcriptase. Conclusions: Our findings confirm that patients receiving an INI-based first-line regimen achieve and maintain very high rates of VS in clinical practice

Spoligotyping and Mycobacterium tuberculosis

Speed of spoligotyping could be a benefit in the clinical setting

Time course and specificity of sensory-motor alpha modulation during the observation of hand motor acts and gestures: a high density EEG study

The main aim of the present study was to explore, by means of high-density EEG, the intensity and the temporal pattern of event-related sensory-motor alpha desynchronization (ERD) during the observation of different types of hand motor acts and gestures. In particular, we aimed to investigate whether the sensory-motor ERD would show a specific modulation during the observation of hand behaviors differing for goal-relatedness (hand grasping of an object and meaningless hand movements) and social relevance (communicative hand gestures and grasping within a social context). Time course analysis of alpha suppression showed that all types of hand behaviors were effective in triggering sensory-motor alpha ERD, but to a different degree depending on the category of observed hand motor acts and gestures. Meaningless gestures and hand grasping were the most effective stimuli, resulting in the strongest ERD. The observation of social hand behaviors such as social grasping and communicative gestures, triggered a more dynamic time course of ERD compared to that driven by the observation of simple grasping and meaningless gestures. These findings indicate that the observation of hand motor acts and gestures evoke the activation of a motor resonance mechanism that differs on the basis of the goal-relatedness and the social relevance of the observed hand behavior

Qualit\ue0 delle relazioni precoci e benessere dell'individuo: il ruolo del supporto sociale.

Background: Il presente studio fa riferimento alla prospettiva ecologica che si interessa allo studio delle variabili contestuali in riferimento alle possibili connessioni fra la qualit\ue0 delle relazioni nell\u2019infanzia e il benessere dell\u2019individuo; in tal senso, il focus dello studio \ue8 orientato su aspetti quali il supporto sociale percepito e le modalit\ue0 con cui gli individui fronteggiano le situazioni e percepiscono lo stress. Entro questo modello, l\u2019obiettivo \ue8 di indagare: a) se e come il supporto sociale pu\uf2 avere un \u201ceffetto cuscinetto\u201d o diretto nell\u2019insorgenza di un\u2019eventuale sintomatologia fisica e/o psicologica; b) se e come la qualit\ue0 delle relazioni precoci pu\uf2 influenzare pi\uf9 o meno direttamente lo stato generale di salute percepito dal soggetto. Metodo: Il campione, reclutato con un procedimento a pioggia, \ue8 costituito da 26 soggetti con et\ue0 compresa tra 30 e 50 anni, appartenenti alla popolazione generale. I soggetti hanno compilato una scheda socio \u2013 anagrafica e una batteria di questionari self \u2013 report: Interpersonal Support Evaluation List (ISEL, Cohen, Hoberman, 1983); Symptom Chek List \u2013 90 (SCL \u2013 90, Derogatis et al., 1970); Parental Bonding Instrument (PBI, Parker et al., 1979); Coping Orientation to Problems Experienced (COPE \u2013 NVI, Sica et al., 2008); Misura dello Stress Psicologico (MSP, Di Nuovo et al., 2000). Results: Tramite un modello di \u201cpath analysis\u201d, i dati hanno evidenziato: a) un effetto buffering del supporto sociale sull\u2019insorgenza di sintomi fisici e/o psichici; b) un legame indiretto tra la qualit\ue0 delle esperienze precoci e lo stato di salute percepito dall\u2019individuo, mediato dalla percezione del supporto sociale, dal livello di stress e dalle strategie di coping (X2 (4; N=266) = 4.05; p = .40; RMSEA = .024; CI for RMSEA = .00; GFI = .99; NFI = .99; NNFI = 1.00). Conclusion: Le variabili contestuali risultano avere un importante ruolo di mediazione \u2013 rispetto alla qualit\ue0 delle esperienze precoci \u2013 nel determinare l\u2019insorgenza di un\u2019eventuale sintomatologia fisica e/o psichica

The Possible Role of Gut Microbiota and Microbial Translocation Profiling During Chemo-Free Treatment of Lymphoid Malignancies

The crosstalk between gut microbiota (GM) and the immune system is intense and complex. When dysbiosis occurs, the resulting pro-inflammatory environment can lead to bacterial translocation, systemic immune activation, tissue damage, and cancerogenesis. GM composition seems to impact both the therapeutic activity and the side effects of anticancer treatment; in particular, robust evidence has shown that the GM modulates the response to immunotherapy in patients affected by metastatic melanoma. Despite accumulating knowledge supporting the role of GM composition in lymphomagenesis, unexplored areas still remain. No studies have been designed to investigate GM alteration in patients diagnosed with lymphoproliferative disorders and treated with chemo-free therapies, and the potential association between GM, therapy outcome, and immune-related adverse events has never been analyzed. Additional studies should be considered to create opportunities for a more tailored approach in this set of patients. In this review, we describe the possible role of the GM during chemo-free treatment of lymphoid malignancies

Genova. Resilienza e sviluppo

Quello genovese \ue8 un sistema urbano assai complesso, che nella sua continua evoluzione ha dovuto confrontarsi con una molteplicit\ue0 di vincoli e di possibilit\ue0 d'ordine geografico chiamti in causa dalla dinamica economica e sociale della citt\ue