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Williams syndrome is a neurodevelopmental disorder associated with cardiovascular problems, facial abnormalities and several behavioural and neurological disabilities. It is also characterized by some typical audiological features including abnormal sensitivity to sounds, cochlear impairment related to the outer hair cells of the basal turn of the cochlea, and sensorineural or mixed hearing loss, predominantly in the high frequency range. The aim of this report is to describe a follow-up study of auditory function in a cohort of children affected by this syndrome. 24 patients, aged 5-14 years, were tested by means of air/bone conduction pure-tone audiometry, immittance test and transient evoked otoacoustic emissions. They were evaluated again 5 years after the first assessment, and 10 of them underwent a second follow-up examination after a further 5 years. The audiometric results showed hearing loss, defined by a pure tone average >15 dB HL, in 12.5% of the participants. The incidence of hearing loss did not change over the 5-year period and increased to 30% in the patients who underwent the 10-year follow-up. Progressive sensorineural hearing loss was detected in 20% of the patients. A remarkable finding of our study regarded sensorineural hearing impairment in the high frequency range, which increased significantly from 25% to 50% of the participants over the 5-year period. The increase became even more significant in the group of patients who underwent the 10-year follow-up, by which time the majority of them (80%) had developed sensorineural hearing loss. Otoacoustic emissions were found to be absent in a high percentage of patients, thus confirming the cochlear fragility of individuals with Williams syndrome. Our study verified that most of the young Williams syndrome patients had normal hearing sensitivity within the low-middle frequency range, but showed a weakness regarding the high frequencies, the threshold of which worsened significantly over time in most patients., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Impaired control of balance has been described in Williams syndrome (WS). The aim of this study was to investigate balance function by means of clinical and instrumental tests in order to measure postural sway in people with WS in an objective way. 23 WS patients (11 males, 12 females, mean age 17.52 ± 8.33 years) and 23 healthy subjects (11 males, 12 females, mean age 17.74 ± 8.93 years) performed static posturography with eyes open and closed, on a firm surface and on foam pads. The WS patients had higher mean length, velocity and surface values than controls under all of the test conditions, and their length and surface values were significantly higher in the eyes open test. The cognitive abilities of the WS patients were not related to their stabilometric performance. The greatest differences between the WS patients and the controls were found mainly in the older subjects. WS patients are more unstable than healthy subjects of the same age, particularly when they use visual information to maintain their balance: i.e. under conditions of normal everyday life. Possible explanations may be the ophthalmologic problems and the visuospatial difficulties attributed to a neural processing abnormality involving the dorsal stream impairment model. The balance function of WS patients is different from that of normal developing subjects, especially after adolescence when postural control is generally complete. This suggests an atypical developmental trajectory., (Copyright © 2012 Elsevier B.V. All rights reserved.)

We investigated eye-hand coordination in children with autism spectrum disorders (ASD) in comparison with age-matched normally developing peers. The eye-hand correlation was measured by putting fixation latencies in relation with pointing and key pressing responses in visual detection tasks where a gap-overlap paradigm was used and compared to fixation latencies in absence of manual response. ASD patients showed less efficient eye-hand coordination, which was particularly evident when pointing towards a target was being fixated. The data of normally developing participants confirmed that manual gap effects are more likely for more complex hand movements. An important discrepancy was discovered in participants with ASD: beside normal eye gap effects, they showed no concurrent hand gap effects when pointing to targets. This result has been interpreted as a further sign of inefficient eye-hand coordination in this patient population.

We describe the case of a 3-year-old girl with a 15-day clinical history of lower back pain. We diagnosed a spondylodiscitis of vertebral bodies L5-S1 caused by Salmonella species group B that totally recovered with appropriate antibiotic therapy. Spondylodiscitis in children is a rare condition and Salmonella infection is one of the rarest aetiology. A high index of suspicion is needed for prompt diagnosis to ensure better long-term outcome. Microbiological diagnosis is essential for the appropriate choice of antibiotic treatment.

Public awareness of audiological issues has never been measured in the general public even if the World Health Organization (WHO) has detected a common urgent need for action to prevent and manage ear diseases and hearing loss. The aim of this study was to measure urban community citizens' awareness of managing and preventing ear disease and hearing loss using a specific questionnaire. A questionnaire was formulated on the basis of WHO material concerning the major specific audiological issues and attitudes, focusing in particular on four domains: (1) knowledge of infant hearing loss, (2) correct management of the ears including cleaning and treating, (3) focus on the effect of overexposure to loud sounds and noise, (4) underestimated ear symptoms leading to diagnostic delay. 254 volunteers were enrolled in this cross-sectional study by a team of medical doctors and audiologists stationed in a mobile unit that visited different areas of Milan, Italy. More than 80% of correct responses were given to almost all of the statements by the interviewees, although certain important knowledge was found to be lacking. The proposed audiological questionnaire seems to be a suitable tool to evaluate the public awareness of ear and hearing management. The results showed a need for continued development of comprehensive hearing conservation programs, focused on hearing aid management and early infant hearing loss identification as well as noise exposure.

Several studies have previously demonstrated that postural changes modify evoked otoacoustic emission. In order to evaluate a possible interaction between eye muscles and ciliated cells in the inner ear, we studied the effects of eye lateralization on the contralateral suppression of transient evoked otoacoustic emissions (TEOAEs). Thirty-eight normal hearing subjects with TEOAEs were recruited. Their TEAOEs at threshold level were recorded with contralateral suppression (white noise) via straight ahead fixation and right or left lateral fixation. Eye lateralization in the same direction of the white noise significantly decreased the suppression at 4 kHz (p = 0.003). The signal-to-noise ratio in the suppression condition with straight ahead was 1.54 (± 4.610) dB, while the ratio was 3.48 (± 4.631) dB in the suppression condition with gaze toward the white noise. Eye lateralization seems to reduce the contralateral suppression effect of TEOAEs at 4 kHz. However, further studies are necessary to investigate the possible mechanisms of this phenomenon.

Objectives: The aim of this study was to design a complementary speech audiometry test using verbal tasks and motor responses (VTMR) to assess the ability of a subject to understand and perform simple motor tasks with 3-dimensional objects, to describe its construction, and to show the preliminary results of a pilot study on the Italian version of the test., Methods: The items used in the test setting included 1 base, 1 hammer, 1 wooden structure with 4 sticks, and 5 rings of different colors and 20 lists with 5 verbal tasks per list. The VTMR test and bisyllabic speech audiometry were evaluated in normal-hearing subjects with and without cognitive impairment and in subjects with sensorineural hearing loss., Results: All normal-hearing subjects without cognitive impairment performed the VTMR tasks (100%) correctly at 35 dB sound pressure level. In subjects with sensorineural hearing loss, the percentage of correct answers was significantly higher for the VTMR test than for bisyllabic speech audiometry above 50 dB sound pressure level. This percentage was higher for the VTMR also in normal-hearing subjects with poor cognitive skills., Conclusions: The VTMR might make it easier to check patients' ability to understand verbal commands than does traditional speech audiometry, in particular in those patients with poor test-taking skills.

The aim of this study was to investigate, in a clinical setting, the auditory function of a group of individuals affected by Williams syndrome (WS). Sixty-nine patients with WS, aged 2-30, underwent comprehensive audiological testing including air/bone conduction behavioral audiometry, speech audiometry, tympanometry and measurement of the acoustic reflex, transient evoked otoacoustic emissions and brainstem auditory evoked responses. Hearing loss, defined by a pure-tone average above 15 dB HL, affected 22.6% of the patients studied with traditional audiometry and was mostly slight in severity. Hearing loss was conductive in 9.4% of patients, mainly children with otitis media with effusion, and sensorineural in 13.2% of patients. However, 30% of the ears studied had a hearing impairment in the high frequency range (high-frequency pure-tone audiometry above 15 dB HL), higher in participants above 15 years (46.15%) than in the younger ones (23.45%). Contralateral stapedial reflexes were present in all patients with A-type tympanograms. Transient otoacoustic emissions were absent in 44% of the ears of patients with normal hearing. Brainstem auditory evoked responses fell within normal ranges thus confirming the absence of retrocochlear dysfunction. Although hearing loss does not seem to be frequent, a cochlear fragility, especially in the high frequency range, related to outer hair cells is characteristic of WS. Therefore we strongly recommend monitoring patients affected by WS using annual audiometric tests and performing otoacoustic emissions in order to identify a subclinical cochlear dysfunction which might benefit from an audiological follow up before the possible onset of hearing loss., (Copyright © 2012 Wiley Periodicals, Inc.)

Phototherapy using narrowband ultraviolet B (UVB) is considered among the treatments of choice in vitiligo, even in childhood. The objective of the current study was to evaluate the profile of safety and effectiveness of such therapy in a group of children. An open, uncontrolled study was performed on 28 children with vitiligo who were receiving narrow band UVB phototherapy. The children were classified according to vitiligo type and phototype. Family history and presence of thyroid disease were investigated. Eighteen patients had received other treatments that was stopped 3 months before starting phototherapy. Phototherapy was administered twice a week. The mean duration of therapy was 10 ± 3.4 months. The mean total dose administered was 156.12 ± 79.4 J/cm(2). Photographs of lesions were taken before and at the end of treatment. The response to phototherapy was expressed as percentage of repigmentation. The data were statistically analyzed using SPSS (SPSS Inc., Chicago, IL). Fourteen percent of patients showed excellent response, 28.6% good response, 25% moderate response, and 28.6% mild response; the remaining 3.5% were not responsive. No side effects were observed except mild erythema requiring a decrease in dosage in a few patients. The results of the present study confirm those of other authors, with better results than adults probably related to good adherence of patients and their families. Nevertheless, high cumulative doses are not necessarily related to a good response. Therefore, we suggest stopping treatment after 6 months in nonresponding cases., (© 2012 Wiley Periodicals, Inc.)

Aims of this prospective study were to evaluate the results of vocal fold structural fat grafting for glottic insufficiency and to compare the outcomes obtained in unilateral vocal fold paralysis (UVFP) and congenital or acquired soft tissue defects in vocal folds. Sixty-six consecutive patients with breathy dysphonia, in 43 cases (aged 16-79 years) related to UVFP and in 23 cases (aged 16-67 years) related to vocal fold iatrogenic scar or sulcus vocalis, underwent autologous structural fat grafting into vocal folds. Lipoaspirates were centrifuged at 1200 g for 3 min to separate and remove blood, cell debris and the oily layer. The refined fat was injected under direct microlaryngoscopy in a multilayered way. The main outcome measures were grade, roughness, breathiness, asthenicity and strain (GRBAS) perceptual evaluation, maximum phonation time (MPT), self-assessed Voice Handicap Index (VHI), and voice acoustic analysis, considered pre-operatively and at 3 and 6 months after fat grafting. After surgery, MPT, VHI, G and B improved in both groups (p < 0.05). In particular, G and VHI functional subscales showed a significantly greater decrease in patients with UVFP (p < 0.05). The acoustic variables improved significantly only in the UVFP group (p < 0.005). From 3 to 6 months postoperatively, most variables showed a trend with further improvement. Vocal fold structural fat grafting was significantly effective in treating glottic insufficiency due to UVFP or soft tissue defects. Perceptual, acoustic and subjective assessments confirmed that patients with UVFP had better outcomes than those with soft tissue defects.

Aim: Among pediatric population the recurrent upper respiratory tract infections are very common. Several phytotherapies are been proposed as support therapies and, in particular, the efficacy of Echinacea angustifolia is controversial. This paper presents an evaluation of a new herbal compound in the treatment of recurrent upper respiratory tract infections in a pediatric cohort., Methods: An immunostimulant herbal compound of Echinacea angustifolia, Arabinogalactan, Acerola (Vitamin C), Beta- Glucan e Zinc (Imoviral® Junior) was given to 37 children affected by recurrent pharyngotonsillitis or otitis media., Results: The mean number of inflammatory episodes (i.e. tonsillitis or otitis media) during 6 months before treatment was 3±2.19, during the 6 months following treatment initiation it was 1±0.93 (P=0.04). After the complete treatment, 77% of children reported an improvement of chronic inflammatory in frequency of acute episodes. The total score of a questionnaire about life quality is improved (P=0.04). Finally, none collateral effects was occurred., Conclusion: The herbal compound of echinacea, beta-glucan, vitamin c, arabinoglactan and zinc (Imoviral® Junior) can improve the quality of life in pediatric patients affected by recurrent pharyngotonsillitis and otitis media without contralateral effects.

The goal was to identify acoustic and aerodynamic indices that allow the discrimination of a benign organic dysphonic voice from a normal voice. Fifty-three patients affected by dysphonia caused by vocal folds benign lesions, and a control group were subjected to maximum phonation time (MPT) measurements, GRB perceptual evaluations and acoustic/aerodynamic tests. All analyzed variables except the airflow variation coefficient were significantly different between the two groups. The unique significant factors in the discrimination between healthy and dysphonic subjects were the aerodynamic indices of MPT and Glottal efficiency index, and the acoustic index Shimmer. These results show that a combination of three parameters can discriminate a voice deviance and highlight the importance of a multidimensional assessment for objective voice evaluation.

With the optimization of transfusional and chelation regimens, beta-thalassemia has changed from a pediatric disease with poor life expectancy into a chronic disease. Bone demineralization is an important cause of morbidity in older patients; the etiology is multifactorial and partially unknown. We examined, cross-sectionally, 111 adult patients with beta-thalassemia major (66 females and 45 males, 32.6 ± 6 years) who were regularly transfused, sufficiently chelated and replaced for endocrine defects. Bone demineralization was detected in 92.7% of patients with different severity according to gender and site: osteopenia was the prominent finding at the femur, osteoporosis at the lumbar spine (p < 0.001), more evident in males. The femoral site was more influenced by biochemical and clinical factors; despite adequate replacement, the femoral T-score was lower in the hypogonadic group than in the eugonadic group (p = 0.047). A significant correlation was found between the bone mass and body mass index (BMI), alkaline phosphatase (ALP), and pre-transfusional Hb levels. The multivariate analysis indicated as significant regressors ALP, BMI and hypoparathyroidism (T-score, p = 0.005, 0.035, and 0.002; Z-score, 0.002, 0.009, and 0.003, respectively) at the femoral site; whereas, only ALP at the lumbar spine (p = 0.008 and 0.045 for T-and Z-scores, respectively). The statistical significance was reached more frequently by the T-score, while the Z-score seemed to be a less sensitive parameter. Despite best care facilities, bone demineralization in thalassemic patients remains a challenge. Further exploration of the relationships between bone loss and endocrine, biochemical and hematologic parameters is warranted to find effective measures to reduce the risk of fracture in this disease.

Tinnitus patients without hearing loss or hyperacusis often start tinnitus retraining therapy but do not return to the tinnitus clinic for follow-up visits. The aim of this study was to evaluate how these 'missing patients' feel and whether they still use their sound generators after they discontinue retraining therapy. We interviewed 269 tinnitus patients by phone who never returned to the clinic after receiving initial counseling and a generator for sound enrichment. Twenty-six percent did not have tinnitus anymore, 30.5% still used the sound generator to treat their tinnitus, and 43.5% did not use their sound generator but still suffered from tinnitus. This study suggests that therapists need to contact missing patients periodically to follow their improvement, encourage them, and decide on new therapeutic approaches as necessary.

The purpose of this study was to investigate how non-verbal visual reinforcement provided by the audiologist during speech testing influences performance in the elderly. Thirty-two volunteers with age-related hearing loss with or without dual sensory-impairment (DSI), were administered a speech audiometry test in which they repeated lists of ten disyllabic words in two different conditions, namely with and without visual reinforcement. In the conditions of "with visual reinforcement", the tester provided non-verbal cues to acknowledge the response of each participant. The "visual reinforcement" condition did not apparently provide any significant variation in the results. However, when we considered the group of patients without DSI, the non-verbal "visual reinforcement" resulted in better scores (p < 0.001). Non-verbal visual reinforcement may influence speech audiometry results in the elderly. During speech testing of elderly people with age-related hearing loss, audiologists should always remember to administer visual reinforcement to the patients in order to remove a possible confounding factor from audiological evaluation.

Objective: The aims of this study were to examine auditory function in a group of adolescents with prelingual deafness who received cochlear implants (CI) and to identify poor-outcome predictors in order to define reliable prognostic indicators useful in selecting patients for CI., Study Design: Prospective study., Setting: The study was conducted in the Audiology Unit of Cà Granda Ospedale Maggiore Policlinico, Milan, Italy., Subjects and Methods: The study involved 45 adolescents (mean age at implantation: 13.4 +/- 2.6 years, range: 11-18) with profound congenital hearing impairment with a follow-up of three years. Preimplantation and postimplantation auditory performance and speech perception were evaluated using the mean score of three hearing and speech perception tests (vowel-consonant-vowel [VCV], identification of disyllabic words, and recognition of short sentences) performed in auditory-only listening conditions., Results: Significant improvements in all speech perception tests were observed after CI. However, 15 cases were considered "poor performers" (i.e., the auditory performance of these patients was less than 30 percent). The diagnosis of deafness in these subjects was significantly delayed (18.07 +/- 6.25 and 34.4 +/- 10.26 months in good and poor performers, respectively, P = 0.006), and their hearing threshold was significantly lower than in the good users group. The mean age at CI was 12.8 +/- 2.33 and 14.53 +/- 2.70 years in good and poor performers, respectively (P = ns)., Conclusion: CI was shown to be a useful device with the ability to reverse the adverse consequences of hearing loss, particularly for prelingual adolescents who receive implantation early in life and who present a hearing threshold of 100 dB or better both at diagnosis and at surgery., (Copyright 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.)

In this study we analyzed the surface properties of different silicon-based materials used for micro-electro-mechanical systems (MEMS) production, such as thermally grown silicon oxide, plasma-enhanced chemical vapor deposition (PECVD)-treated silicon oxide, reactive-ion etch (RIE)-treated silicon oxide, and Pyrex. Substrates were characterized by atomic force microscopy (AFM) and X-ray photoelectron spectroscopy (XPS) to define the surface chemical and morphological properties, and by fluorescence microscopy to directly assess the absorption of the different polymerase chain reaction (PCR) components. By using microchips fabricated with the same materials we investigated their compatibility with PCR reactions, exploiting the use of different enzymes and reagents or proper surface treatments. We established the best conditions for DNA amplification in silicon/Pyrex microdevices depending on the type of device and fabrication method used and the quality of reagents, rather than on the passivation treatment or increment in standard Taq polymerase concentration.

It is well known that high intensity sounds modify balance by activating the saccule, which is sensitive to both vestibular and acoustic stimuli. Few studies have examined the effects of music on the postural responses in healthy subjects. The aim of this study was to evaluate the influence of different types of music (Mozart, Köhler, Köhler with a carrier of 12 KHz and subjects' favourite music) on twelve healthy subjects standing on a stabilometric platform. With each type of music, all subjects underwent static posturography with eyes opened and eyes closed, and with and without foam pads. We evaluated the length and the surface of body sway and the correlation between them, and we analyzed the visual, vestibular and somatosensory sub-components. Listening to different types of music did not significantly change the stabilometric variables, with the exception of listening to Mozart's Jupiter, which caused a significant reduction in the visual component with a consequent increase in both the vestibular and somatosensory inputs. Further studies are needed to determine the effect of Mozart's music in modifying the sensory strategy in the rehabilitation of patients with vestibular impairments.

Objective: The aims of this study were to evaluate the efficacy of open ear canal hearing aids in tinnitus treatment and to investigate the influence of gender, age, medication usage, tinnitus cause, tinnitus perception side, tinnitus pitch, pure tone audiometry, distortion product otoacoustic emissions, and minimal masking level on outcome., Methodology: One hundred tinnitus patients were evaluated by the tinnitus handicap inventory (THI) at the beginning of the study and after nine months of treatment. All subjects were submitted to counselling and sound enrichment from the simple sound amplification provided by the open ear canal hearing aids., Results: Initial mean THI score was 54.22 (+/- 20.37) and final mean score was 28.32 (+/- 16.50), p < 0.0001. No statistically significant correlations were found between THI value reduction and the studied parameters., Conclusion: Open ear canal hearing aids were useful in all tinnitus patients with mild hearing loss.

In this study the initial reactions of different carbon-based materials with human blood were investigated by short-time exposure to platelet poor plasma (PPP). Extent of protein adsorption and conformational changes of proteins adsorbed on material surfaces are known to be keys factors affecting further biological reactions. Plasma protein adsorption on multi-walled carbon nanotubes (MWCNTs), highly oriented pyrolytic graphite (HOPG) and nanocrystalline graphite (NG) were investigated and the results obtained on these materials were compared with those obtained studying pyrolytic carbon (PyC), a material showing good anti-trombogenic properties. The quantification of adsorbed plasma proteins on sample surfaces was obtained by Micro BCA Protein Assay, while immunofluorescence analysis was employed to monitor the surface density and distribution of two selected proteins, namely fibrinogen (Fg) and Hageman factor (FXII), proteins playing a leading role in mediating platelet adhesion. The dependence of the biological response on the surface chemical and morphological properties were also investigated and data obtained using X-ray photoelectron spectroscopy (XPS), scanning electron microscopy (SEM) and atomic force microscopy (AFM) are presented. After PPP incubation PyC is characterized by the presence of low level of whole proteins and FXII adsorption, in contrast to a high adhesion of Fg. Compared to PyC the analysis of the other carbon-based materials result in a higher whole protein adsorption with an increasing trend moving from MWCNTs, NG and HOPG respectively. The Fg surface density on PyC, NG and MWCNTs is about four times higher than on HOPG while only HOPG show a detectable fluorescent signal of FXII. If AFM data indicate that surface morphology does not play a crucial role in protein adhesion, XPS analysis show chemical differences that can be correlated with this biological response.

Objective: The aim of this study was to evaluate the correlation between the most common instruments used to quantify tinnitus and the level of anxiety and depression experienced by patients in order to provide a guideline for otolaryngologists., Study Design: Cross-sectional survey., Subjects and Methods: A total of 108 tinnitus patients were submitted to a series of instruments, including Visual Analogue Scales (VAS), Tinnitus Handicap Inventory (THI), State Trait Anxiety Inventory Form Y (STAI-T), and Beck Depression Inventory (BDI). These instruments were chosen based on their psychometric properties, time of administration, and validity in many countries., Results: Of the patients studied, 24 percent had severe tinnitus, 35 percent had anxiety disorders, and 13 percent had a depressive pathosis. Significant correlations between STAI-T and THI scores (P < 0.001), and between BDI and THI scores were shown (P < 0.001). The same results were found with VAS., Conclusion: If a patient reports a THI greater than 38, the otolaryngologist should supplement diagnostic studies with a psychological consultation.

A 13-year-old girl with persistent fever, pharyngitis, acute anaemia, peripheral blood and bone marrow positive for parvovirus B19 DNA.Microscopic findings of gastrointestinal biopsy showed diffuse vacuolar alteration of the cytoplasma of duodenal enterocytes and virological analysis demonstrated the presence of parvovirus in lymphocytes of the duodenal wall's epithelial layer.In unexplained gastrointestinal pathologies, the role of parvovirus B19 infection should be investigated.

Movement disturbances play an intrinsic part in autism. Upper limb movements like reach-and-throw seem to be helpful in early identification of children affected by autism. Nevertheless few works investigate the application of classifying methods to upper limb movements. In this study we used a machine learning approach Support Vector Machine (SVM) for identifying peculiar features in reach-and-throw movements. 10 pre-scholar age children with autism and 10 control subjects performing the same exercises were analyzed. The SVM algorithm proved to be able to separate the two groups: accuracy of 100% was achieved with a soft margin algorithm, and accuracy of 92.5% with a more conservative one. These results were obtained with a radial basis function kernel, suggesting that a non-linear analysis is possibly required.

Tinnitus retraining therapy (TRT) is a useful treatment for tinnitus. The aim of this study was to evaluate the results obtained after 18 months of TRT as well as 18 months after completion of therapy, i.e. 36 months after initiation of TRT. Forty-five subjects suffering from an idiopathic tinnitus with or without hyperacusis for at least 6 months were recruited. There were significant improvements during therapy (p < 0.001) and the mean Tinnitus Handicap Inventory (THI) was lowered by more than 20 points. These improvements persisted 18 months after treatment completion. Furthermore, the percentage of patients reporting the disappearance of their difficulties in various activities (relaxation, concentration, sleep, social relations and work) increased continuously after treatment completion. TRT improved self-perceived disability induced by chronic tinnitus for a long time after the end of therapy., (Copyright (C) 2009 S. Karger AG, Basel.)

Guidelines are an essential tool to ensure an optimal clinical governance in oncology. The Province of Trento started a research project whose aim is to develop a system for supporting and controlling the best evidence-based oncological care process based on guidelines. The significant role of ontologies for the semantic interoperability of such a system is pointed out.

Background: Auditory brainstem responses (ABRs) have been previously investigated in subjects with Down's syndrome (DS), but the published data are generally from children with hearing loss. The aim of this study was to evaluate the hearing pathway in normal hearing adult DS patients., Methods: We used ABRs to analyze absolute and interpeak latencies in 19 adult DS patients aged 18-45 years whose pure tone audiometry (PTA) test results indicated thresholds within normal limits, and 19 normal controls., Results: The DS sample showed statistically significant gender-related differences in interpeak interval III-V (p = 0.015). The latencies of waves III and V, and interpeak intervals III-V and I-V, were significantly shortened in the DS patients than in the controls., Conclusions: Our findings may be due to the smaller brain sizes and simpler afferent auditory pathways of DS subjects.

The aim of the present study was to compare the duration of computer use assessed through a software package and through self-report by questionnaire. Applied in a large Public Administration the software package led altogether to a remarkable reduction in the number of workers reaching the duration of use which requires medical examination. Nevertheless, it highlighted that self-reporting of a considerable number of workers had underestimated the computer use. The consistency with Italian laws is also discussed.

Objective: The aim of this study was to investigate the effect of silence on the appearance of auditory phantom perceptions in normal-hearing adults, with specific emphasis on the influence of suggestion., Study Design: Cross-sectional survey., Subjects and Methods: Fifty-three normal-hearing young Caucasian adults were subjected to two 4-minute sessions in an anechoic sound chamber. In the first session the chamber was empty; in the second session the chamber contained a nonfunctioning loudspeaker. At the end of each session, subjects had to indicate which sounds they perceived from a list of 23 different sounds., Results: When the loudspeaker was not present, 83 percent of the participants reported that they experienced at least one sound, and the percentage increased to 92 percent when the loudspeaker was present., Conclusion: These results confirm the emergence of tinnituslike perceptions in a nonclinical population in a silent environment and indicate that suggestive mechanisms play only a minor role in their generation.

Our purpose was to determine the prevalence and features of metabolic syndrome (MS) in a series of long-term hematopoietic stem cell transplantation (HSCT) survivors. We assessed the clinical, metabolic and endocrinological data, and plasma TNF, leptin, resistin and adiponectin levels relating to 85 HSCT recipients. MS was diagnosed on the basis of the National Cholesterol Education Program-Adult Treatment Panel III criteria. Its prevalence was compared with that observed in an Italian population, and its relationship with the clinical and laboratory parameters was assessed univariately and multivariately. Twenty-nine HSCT recipients had MS instead of the 12.8 expected (P<0.0001), with hypertriglyceridemia being the most common feature. Univariate analysis indicated that high insulin and leptin levels, low-adiponectin levels and hypogonadism were significantly related to a diagnosis of MS; multivariate analysis indicated plasma leptin, insulin resistance, age and hypogonadism. We conclude that HSCT recipients are at increased risk of a form of MS that has particular clinical features. Plasma leptin levels are independently related to MS, thus suggesting that leptin resistance may play a role as a pathogenetic clue, as in other conditions in which MS occurs as a secondary phenomenon. MS deserves consideration as a life-threatening complication in patients who are probably cured of their underlying disease.

Aim: Narrowband UVB (NBUVB)phototherapy has been used for vitiligo for years, but today there are no standardized protocols of treatment and follow-up data. A long-term study on 53 patients with localized or diffuse vitiligo is presented with the aim at improving the data availability in the literature., Methods: Phototherapy was administered two times a week on non-consecutive days; the treatment was continued for one year. The mean total dose administered was 201.28 J/cm2.The response to phototherapy was expressed as percentage of repigmentation: a repigmentation greater than 75% was considered excellent, a repigmentation between 74% and 50% good, a repigmentation between 49% and 25% moderate, a repigmentation less than 24% mild. In case of absence of repigmentation, the patient was judged as non-responder, Results: Three point eight percent of patients showed excellent response, 32.05% good response, 32.05% moderate response, 28.3% mild response, while the remaining 3.8% was not responsive. According to statistical analysis best responses, were observed in non-acral areas (P<0.001), in patients with recent vitiligo (P=0.003), in patients with negative family history for vitiligo (P=0.038), and in those not exposed to previous therapies (P=0.005). In 36 patients a mean follow-up of 19.78 months was obtained., Conclusion: NBUVB phototherapy is useful and safe for vitiligo, but in the future it will be necessary to compare results of different studies using the same treatment protocols and to obtain data of series endowed with an adequate follow-up.

We contrasted visual search for targets presented in prototypical views and targets presented in nonprototypical views, when targets were defined by their names and when they were defined by the action that would normally be performed on them. The likelihood of the first fixation falling on the target was increased for prototypical-view targets falling in the lower visual field. When targets were defined by actions, the durations of fixations were reduced for targets in the lower field. The results are consistent with eye movements in search being affected by representations within the dorsal visual stream, where there is strong representation of the lower visual field. These representations are sensitive to the familiarity or the affordance offered by objects in prototypical views, and they are influenced by action-based templates for targets.

Cutaneous myiasis is a common travel-associated dermatosis caused by fly larvae. We report an unusual case of furuncular myiasis caused by Dermatobia hominis that was associated with signs of systemic inflammation. In this case study, morphological and novel molecular approaches were used to identify and characterize the larvae responsible for human infestation.

We provide evidence for long-term priming based on view-specific representations of neglected stimuli. A patient with visual neglect, M.P., was asked to search for a target presented amongst other objects on a table. Subsequently recognition memory was tested for items that were identified and for items missed in search. Items that were missed were rejected more slowly than novel items in the recognition memory task, providing evidence for implicit processing (Experiment 1). Implicit memory for missed items was both item-specific (Experiment 2) and view-specific (Experiment 3), and it was eliminated when there were intervening activities lasting about 1 hour (Experiment 4). There was also an implicit memory for distractors in the search task, which was item- but not view-specific (Experiments 2 and 3) and it lasted for at least an hour, even with other intervening activities (Experiment 4). The data suggest that the representations of neglected stimuli may differ qualitatively from those of nonneglected items, with representations of neglected objects being both view-specific and vulnerable across extended retention intervals. The results support the argument that attention is needed in order to encode object representations that are robust to view transformations and temporal decay or interference.

The aim of this study was to evaluate the efficacy of TRT in patients suffering from tinnitus. The tinnitus disorder affects about 10-15% of the population and, in one person out of a hundred, it is a disabling disorder. TRT treatment is based on Jastreboff's neurophysiological model. TRT consists of two parts: counselling, and sound therapy by means of dedicated hearing aids and sound generators. It proved to be useful to reduce the symptoms related to tinnitus. Jastreboff's structured interviews were proposed to a sample of 51 patients with tinnitus belonging to the I-II-III-IV classes according to Jastreboff. These patients were treated for 18 months. Sixty-eight percent of patients reported a reduction in the symptoms related to tinnitus, such as sleep disturbance, problems in concentration, and inability to relax. A percentage (64.7%) of patients thought that their quality of life was improved. Patients who had suffered from tinnitus for less than one year achieved significantly better results than patients who had suffered for a longer period of time. TRT is an effective tool in the treatment of tinnitus.

Heart failure can be the final stage of almost any type of cardiovascular diseases. Such diseases are the leading cause of recurrent hospital stay and mortality in developed countries, and an increasingly important cause of morbidity and mortality in developing countries. In consideration of the growing incidence of this syndrome, the Province of Trento (Northern Italy) supports a research project called e-Heart Failure. The aims of this project include the implementation of a web-based patient record management system which must allow all the professionals involved in the care process to provide a shared and continuous care. This paper emphasizes the role of ontologies in supporting the continuity of care. In a complex scenario where multiple agents co-operate in order to allow continuity of care, ontologies are the essential glue to ensure semantic consistency to data and knowledge shared by the different actors involved in the process, including patients and their families.

We present OncoQUAL, a clinical instrument panel for quality assessment in cancer care. OncoQUAL is fully integrated in an oncological electronic patient record (OEPR) and it enables oncologists to interactively retrieve clinical data for performing process and outcome-based measures of quality of care. The capability of incorporating accurate and timely 'internal' quality measurements into the daily work of clinicians is essential for moving towards a user-oriented approach to the improvement of quality of care processes.

Objective: The present paper estimates the 1980-2000 trend in exposure to benzene of the population living within the urban area of Modena. An assessment of leukaemia risk is also presented., Design: The 2000 annual means of benzene atmospheric concentrations in 73 sites has been derived using a procedure which integrated data from fixed site stations and passive samplers: on this basis, an annual mean for the whole urban area has been calculated. The population exposure trend for the period 1980-2000 has been estimated using the information on traffic emission changes. The expected annual number of leukaemia cases attributable to benzene has been calculated by using two different approaches., Setting: Residents in the urban area of Modena., Main Outcome Measures: Annual incidence of leukaemia attributable to benzene., Results: In 2000, the mean urban concentration was about 7 microg/m3 and in average the population was exposed to about 9 microg/m3. In the eighties, the population exposure was 5 times higher than the 2000 value, with a maximum of 51 microg/m3 in 1988. The leukaemia risk assessment procedures gave a value of about 4 x 10(-1) with the method based on cumulative exposure and of about 4 x 10(-2) with the method based on weighted exposure., Discussion and Conclusion: This study is one of the few examples of evaluation of both the trend in benzene exposure for a population and assessment of leukaemia risk. Uncertainties in the assessment of health impact derive from inconsistencies in the underlyng methods.

This poster presents an innovative real-time Teleconsultation System for synchronized navigation of the pages of a web-based Oncological Electronic Medical Record, designed to provide clinicians a cooperative work tool supporting the oncologic patient management between different hospitals. The system embeds additional tools supporting the discussion: digital whiteboard, chat and a digital audio channel.

This study is concerned with the nature of object representations coded within and between vision and touch, assessed through a study of perceptual matching abilities in a patient with impaired semantic knowledge for objects: JP. Prior work with JP has indicated that she has a category-specific deficit that is particularly severe for tools (see the Case report and Humphreys, G. W., Vernier, M. -P., & Riddoch, M. J. A semantic deficit for tools, in preparation). Here, we test whether, despite this semantic deficit, JP can perform object matching under various conditions. We demonstrate that JP could perform matching across sensory modalities (between touch and vision) when objects appeared in the same view, but this did not generalise across views. In addition, JP was able to match from 3D felt representations to 2D visual representations provided the stimuli were real (previously familiar) objects. The data support the idea that matching between touch and vision can be based on common view-specific, perceptual representations, sensitive to the familiarity of individual objects.

We present an interactive real-time visualization environment of time-ordered medical data aimed to support multidisciplinary disease management of patients with heart failure. Our prototype has been integrated into a working Electronic Patient Record implemented for the integrated management of heart failure patients. Since January 2005, the system has been evaluating in a clinical setting to assess its practical utility involving 30 General Practitioners, 7 Hospital Physicians and 50 Hospital and Community Nurses.

In the present study, the authors examined the effect of tool use in a patient, MP, with neglect of peripersonal space. They found that target detection improved when the patient searched with his arm outstretched, when both visual and motor cues were present. Motor cues (arm outstretched but hidden from view) and visual cues alone (shining a torch on the objects) were less effective. In a final experiment, the authors reported that MP established a better memory for the objects that were searched for when a combined visual and motor cue was present. The authors argue that search was improved by combined visuomotor cuing, which was effective when the action could affect the objects present. Visuomotor cuing also led to stronger memories for searched locations, which reduced any tendency to reexamine positions that had been searched previously. The data are discussed in terms of the interaction between perception and action.

Background: Early diagnosis and surgical excision is the most effective treatment of melanoma. Well-trained dermatologists reach a high level of diagnostic accuracy with good sensitivity and specificity. Their performances increase using some technical aids as digital epiluminescence microscopy. Several studies describe the development of computerized systems whose aim is supporting dermatologists in the early diagnosis of melanoma. In many cases, the performances of those systems were comparable to those of dermatologists. However, this cannot tell us whether a system is able to support dermatologists. Actually, the computerized system might correctly recognize the same lesions that the dermatologist does, without providing them any useful advice and therefore being useless in recognizing early malignant lesions., Purpose: We present a novel approach to enhance dermatologists' performances in the diagnosis of early melanoma. We provide results of our evaluation of a computerized system combined with dermatologists., Methods: A Multiple-Classifier system was developed on a set of 152 cases and combined to a group of eight dermatologists to support them by improving their sensitivity., Results: The eight dermatologists have average sensitivity and specificity values of 0.83 and 0.66, respectively. The Multiple-Classifier system performs as well as the eight dermatologists (sensitivity range: 0.75-0.86; specificity range: 0.64-0.89). The combination with the dermatologists shows an average improvement of 11% (P=0.022) of dermatologists' sensitivity., Conclusion: Our results suggest that an automated system can be effective in supporting dermatologists because it recognizes different malignant melanomas with respect to the dermatologists.

Fibulin-1 (Fbln-1) is an immunogenic breast cancer-related glycoprotein identified by serological analysis of cDNA expression library (SEREX) strategy. Here, we show that dendritic cells from two breast cancer patients elicited a CD4(+)-mediated T-cell response to Fbln-1 presentation. In both patients, an antibody response to Fbln-1 was also found. By contrast, a Fbln-1-seronegative patient and a weakly seropositive patient demonstrated no such T-cell response. Analysis of human breast cancers for Fbln-1 RNA and protein expression revealed the presence of Fbln-1C and -1D variants. Fbln-1 was detected in the cytoplasm and at the cell surface of different human breast carcinoma cell lines. Immunohistochemical analysis of 528 archival primary breast carcinomas showed the expression of Fbln-1 in 35% of the cases. When the immunohistochemical findings were compared against pathobiological information associated with each specimen, an inverse relationship between Fbln-1 and cathepsin D expression was observed (P=0.04). Furthermore, even though long-term survival was similar between Fbln-1-positive and -negative cases, the survival of Fbln-1-positive cases improved when a lymphoid infiltrate was present at the tumour site. Taken together, our findings of an Fbln-1-specific immunity and the improved survival associated with Fbln-1 expression in the presence of lymphoid infiltration point to a role of Fbln-1 in tumour immunosurveillance.

Fibulin-1 (Fbln-1) is an extracellular matrix (ECM) and plasma glycoprotein. Considering the growing evidence indicating that Fbln-1 plays a role in cancer we sought to develop monospecific antibodies to better facilitate further studies of the function of Fbln-1 in breast cancer. Using a plasmid expression vector encoding full-length human Fbln-1D as an immunogen and CpG oligodeoxyribonucleotides as adjuvant a monoclonal antibody (MAb) against Fbln-1 was produced. This MAb, designated MEM-2 was of IgM isotype and reacted with bacterially expressed Fbln-1. Furthermore, MEM-2 reacted with Fbln-1 expressed in the ECM released by cultured human breast carcinoma SKBR-3 cells in ELISA, and also with Fbln-1 present in SKBR-3 cell extract in immunoprecipitation and Western blotting. MEM-2 also reacted with Fbln-1 in human breast carcinoma specimens. These findings illustrate the utility of genetic immunization as a means of generating monoclonal antibodies to tumor-related ECM proteins. MEM-2 represents a useful new tool for the study of Fbln-1 in breast cancer., (Copyright 2003 Wiley-Liss, Inc.)

There is an increasing interest in assessing telemedicine as alternative method of delivering high quality cancer treatment to patients living in rural areas. In the Province of Trento (north-east Italy) a tele-oncology system was implemented to provide non-surgical oncological consultation to district general hospitals. The aim of this study was to explore user-satisfaction with the system after 6 months of experimentation. During the on-field validation two questionnaires with open and closed-response questions were distributed to 80 physicians and nurses 6 months apart to investigate the users' expected benefits vs. perceived ones. The two questionnaires were compared to assess how perceived benefits differed from expected ones. Significant differences were found regarding improvements in: the standardization of diagnostic-therapeutic procedures using the Electronic Patient Record (EPR)]; information sharing; data updating; consultation speed; and the possibility to diminish patients' travels through the use of teleconsultation (TC). Physicians' responses showed a significant difference regarding the EPR's effects on relationship with patient, the nurses' responses with regards to its effects on care quality. Physicians felt that both modalities of teleconsultation were useful in enhancing communication with colleagues (86% for the synchronous TC, 80% for the asynchronous TC). Responses indicated that the major difficulties encountered were in the introduction of the system into the daily routine. Despite this, user expectations for its future use in clinical field were considerably high.

The objective of this study was to develop and test a brief and unobtrusive instrument to detect exaggeration and simulation in whiplash syndrome. The instrument consists of eight scenarios with ten response options that have to be ordered according to how easy a behavior is to perform. Twenty-five simulating and 25 non-simulating patients with whiplash syndrome of grades 2 and 3 according to the Quebec Task Force classification as well as 25 simulating and 25 non-simulating controls completed the instrument. In a cross-validation study 20 controls and 20 patients participated. Malingering and exaggeration scores were determined for each subject and patient. The scores were summed up and compared across malingering and exaggerating subjects and controls and cut-off values were determined to classify the patients. T-tests and a discriminant analysis were used to determine classification accuracy. The instrument correctly identified 94% of the simulators and 84% of the exaggerators in both samples. This brief and unobtrusive instrument can detect exaggeration and simulation in whiplash syndrome.

Melanoma is the most dangerous skin cancer and early diagnosis is the key factor in its successful treatment. Well-trained dermatologists reach a diagnosis via visual inspection, and reach sensitivity and specificity levels of about 80%. Several computerised diagnostic systems were reported in the literature using different classification algorithms. In this paper, we will illustrate a novel approach by which a suitable combination of different classifiers is used in order to improve the diagnostic performances of single classifiers. We used three different kinds of classifiers, namely linear discriminant analysis (LDA), k-nearest neighbour (k-NN) and a decision tree, the inputs of which are 38 geometric and colorimetric features automatically extracted from digital images of skin lesions. Multiple classifiers were generated by combining the diagnostic outputs of single classifiers with appropriate voting schemata. This approach was evaluated on a set of 152 digital skin images. We compared the performances of multiple classifiers (2- and 3-classifier groups) between them and with respect to single ones (1-classifier group). We further compared the classifiers' performances with those of eight dermatologists. Classifiers' performances were measured in terms of distance from the ideal classifier. Compared with 1- and 2-classifier groups, performances of 3-classifier systems were significantly higher (P<0.0005 and P<0.001, respectively). No statistically significant differences were found between the 1- and 2-classifier groups (P=0.352). While the dermatologists group showed a level of performances significantly higher than the 1-classifier systems (P<0.020), no differences were found between the multiple classifier groups and the dermatologists groups, indicating comparable performances. This work suggests that a suitable combination of different kinds of classifiers can improve the performances of an automatic diagnostic system.

This poster present our experience in designing, developing and deploying a Web-based Teleconsultation System based on a Patient Centered Oncological Electronic Medical Record (PEMR) specifically de-signed to provide clinicians a cooperative work tool supporting the oncological patient management. An evaluation phase in a clinical setting was performed when the system was deployed in the hospitals. A second evaluation phase after two year of utilization has been carrying on.

We present a real implementation of a concept-based Electronic Medical Record for the management of heart failure disease. Our approach is based on GEHR archetypes represented in XML format for modelling clinical information. By using this technique it could be possible to build a interoperable future-proof clinical information system.