Publications by authors named "Walter Livi"

12 Publications

  • Page 1 of 1

Correlation Between and Malocclusion in Rett Syndrome: A preliminary study.

Sultan Qaboos Univ Med J 2018 Nov 28;18(4):e489-e493. Epub 2019 Mar 28.

Department of Ear, Nose & Throat, University Hospital of Siena, Siena, Italy.

Objectives: Rett syndrome (RS) is a severe neurological developmental disorder characterised by stereotypical hand movements, epileptic seizures, craniofacial dysmorphism and digestive dysfunction. This study aimed to examine the correlation between the severity of malocclusion and in patients with RS.

Methods: This preliminary study was conducted at the Ear, Nose & Throat Clinic of the University Hospital of Siena, Siena, Italy, from January 2014 to December 2017. A total of 56 patients with RS were examined and grouped according to the severity of (absent, mild, moderate or severe) and malocclusion (<2 mm, 2-3 mm, 3-4 mm or >4 mm).

Results: All of the patients were female and the mean age was 11.3 years. Eight (14.3%) patients had mild, 18 (32.1%) had moderate and 30 (53.6%) had severe . Four (7.1%) patients had <2 mm occlusion, 10 (17.9%) had 2-3 mm occlusion, 26 (46.4%) had 3-4 mm occlusion and 16 (28.6%) had >4 mm occlusion. Mild was observed in 100% and 40% of patients with <2 and 2-3 mm malocclusion, respectively, while moderate was present in 60% and 38.5% of patients with 2-3 and 3-4 mm malocclusion, respectively. Severe was observed in 28.6% and 87.5% of patients with 3-4 and >4 mm malocclusion, respectively. There was a significant correlation between and malocclusion severity ( <0.001).

Conclusion: A higher degree of malocclusion was associated with more severe among a cohort of patients with RS.
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http://dx.doi.org/10.18295/squmj.2018.18.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443277PMC
November 2018

A Multicenter Clinical Evaluation of Data Logging in Cochlear Implant Recipients Using Automated Scene Classification Technologies.

Audiol Neurootol 2017 13;22(4-5):226-235. Epub 2017 Dec 13.

ENT Audio-Vestibology Unit, Ospedale di Circolo e Fondazione MACCHI, Varese, Italy.

Currently, there are no studies assessing everyday use of cochlear implant (CI) processors by recipients by means of objective tools. The Nucleus 6 sound processor features a data logging system capable of real-time recording of CI use in different acoustic environments and under various categories of loudness levels. In this study, we report data logged for the different scenes and different loudness levels of 1,366 CI patients, as recorded by SCAN. Monitoring device use in cochlear implant recipients of all ages provides important information about the listening conditions encountered in recipients' daily lives that may support counseling and assist in the further management of their device settings. The findings for this large cohort of active CI users confirm differences between age groups concerning device use and exposure to various noise environments, especially between the youngest and oldest age groups, while similar levels of loudness were observed.
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http://dx.doi.org/10.1159/000484078DOI Listing
May 2019

Dysphagia in Rett Syndrome: A Descriptive Study.

Ann Otol Rhinol Laryngol 2017 Sep 2;126(9):640-645. Epub 2017 Aug 2.

1 Department of Medicine, Surgery and Neuroscience, ENT Clinic, University Hospital of Siena, Viale Bracci 14, 53100 Siena, Italy.

Objectives: Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications.

Methods: The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS. Speech evaluation associated with observation during mealtimes was useful to formulate suggestions for caregivers.

Results: Progressive deterioration of feeding was commonly noted by caregivers. Fifty-four patients had a history of recurrent episodes of bronchitis. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most common findings in all patients.

Conclusions: Dysphagia was primarily limited to oral preparatory phases, while the pharyngeal phase was normal in most patients. The high percentage of dysphagia suggests the need to accurately monitor the feeding capability of RS children. It is critical to correctly inform caregivers about safe swallowing procedures to reduce the incidence of fatal complications.
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http://dx.doi.org/10.1177/0003489417723033DOI Listing
September 2017

Underwater Acoustic Source Localisation Among Blind and Sighted Scuba Divers: Comparative study.

Sultan Qaboos Univ Med J 2017 May 20;17(2):e168-e173. Epub 2017 Jun 20.

Department of Ear, Nose & Throat, University of Siena, Siena, Italy.

Objectives: Many blind individuals demonstrate enhanced auditory spatial discrimination or localisation of sound sources in comparison to sighted subjects. However, this hypothesis has not yet been confirmed with regards to underwater spatial localisation. This study therefore aimed to investigate underwater acoustic source localisation among blind and sighted scuba divers.

Methods: This study took place between February and June 2015 in Elba, Italy, and involved two experimental groups of divers with either acquired (n = 20) or congenital (n = 10) blindness and a control group of 30 sighted divers. Each subject took part in five attempts at an under-water acoustic source localisation task, in which the divers were requested to swim to the source of a sound originating from one of 24 potential locations. The control group had their sight obscured during the task.

Results: The congenitally blind divers demonstrated significantly better underwater sound localisation compared to the control group or those with acquired blindness ( = 0.0007). In addition, there was a significant correlation between years of blindness and underwater sound localisation ( <0.0001).

Conclusion: Congenital blindness was found to positively affect the ability of a diver to recognise the source of a sound in an underwater environment. As the correct localisation of sounds underwater may help individuals to avoid imminent danger, divers should perform sound localisation tests during training sessions.
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http://dx.doi.org/10.18295/squmj.2016.17.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488817PMC
May 2017

High-mobility group box protein 1 expression in inflammatory diseases of the middle ear.

Int J Immunopathol Pharmacol 2017 Jun 15;30(2):168-173. Epub 2017 Mar 15.

1 Medical Surgical and Neuroscience Department, ENT Clinic, University of Siena, Siena, Italy.

High-mobility group box 1 (HMGB1) is a nuclear non-histone protein, playing a critical role as a mediator between innate and acquired immunity; when released extracellularly, it coordinates the cellular stress response (under necrosis, bacterial lipopolysaccharide stimulation) and acts as an inflammatory marker and cytokine. The aim of the study was to demonstrate whether HMGB1 is over-expressed in chronic middle-ear pathologies and whether the entity of expression and the localization are correlated with the degree of the inflammatory reaction, thus suggesting that HMGB1 may play a crucial role in chronic inflammatory disorders of the middle ear, as already demonstrated in other airway diseases. We analyzed 30 samples of middle-ear mucosa in patients affected by chronic suppurative otitis media with ear drum perforation with/without cholesteatoma and otosclerosis as control. The distribution of HMGB1 was evaluated as nuclear, cytoplasmic, and/or extracellular staining. The inflammatory cells observed in the biopsies were mostly lymphocytes and plasmacells. A statistically significant difference in inflammation score between otosclerosis and chronic otitis samples ( P < 0.01; Anova test) and between otosclerosis and cholesteatoma samples ( P < 0.05; Anova test) was observed; the HMGB1 positivity was in accordance with the density of the inflammatory infiltrate. HMGB1 is over-expressed in chronic middle-ear pathologies and may play a role in the progression of the inflammatory process from recurrent acute otitis media to chronic suppurative otitis media.
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http://dx.doi.org/10.1177/0394632017698713DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806793PMC
June 2017

Kinesio Taping in Dysphonic Patients.

J Voice 2017 Sep 23;31(5):589-593. Epub 2017 Feb 23.

ENT Department, Policlinico S.M. alle Scotte, Siena, Italy. Electronic address:

Objective: Kinesio taping (KT) is a method of elastic bandaging that produces a biomechanical effect on the organism. This study aims to evaluate its use in dysphonic patients tratment, as integrated part of speech therapy.

Study Design: Randomized controlled MATERIALS AND METHODS: Fifteen dysphonic patients were given the option to complement the speech therapy treatment with KT (DG1). 15 dysphonic patients suffering from similar conditions (DG2) who underwent traditional speech therapy were the control group.

Results: After treatment, both DG1 and DG2 obtained a statistically significant improvement for jitter and noise-to-harmonic ratio (P >0.05) and showed an improvement in Voice Handicap Index (VHI) total (VHIt), VHI functional (VHIf), VHI emotional (VHIe), and VHI physical (VHIp). However, the improvement was statistically significant for VHIt (P =0.0102), VHIe (P =0.0349), and VHIp (P =0.0366) in DG1, and only in VHIt (P =0.0466) in DG2. In DG1, P had a lower value than in DG2 for VHIt, VHIe, and VHIp. In DG2, there were a few patients who after therapy had a VHIt higher than before therapy, whereas this did not occur in DG1.

Conclusions: As expected, this study confirms the benefits of speech therapy. Although KT is not a substitute for speech therapy, our preliminary results and patients' favorable response to KT encouraged us to continue with our studies on a larger scale. Further studies are required to better define the role of KT in speech therapy and evaluate its real effect over its placebo effect.
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http://dx.doi.org/10.1016/j.jvoice.2017.01.012DOI Listing
September 2017

Objective Evaluation of Presbyphonia: Spectroacoustic Study on 142 Patients with Praat.

J Voice 2017 Mar 15;31(2):257.e25-257.e32. Epub 2016 Jul 15.

Department of Neonatology, University Hospital of Siena, Siena, Italy.

Objectives: Presbyphonia is the sequence of physiological events related to the process of senility of the vocal folds. The aim of our analysis was to provide deeper knowledge of presbyphonia, raising awareness of this condition as well as giving basic suggestions on how to treat related vocal alterations.

Study Design: This is a randomized study.

Methods: In 2015, we conducted a study on 182 subjects. Each participant underwent an ENT examination (video-laryngo-stroboscopy and subjective acoustic analysis using the General degree of dysphonia; degree of voice Instability; degree of voice Roughness; degree of voice Breathiness; degree of voice Asthenia; degree of voice Strain (GIRBAS) scale) and a logopedic examination (anamnesis, medical history, and acoustic voice analysis using the free software Praat).

Results: The comparison between the voice of young people and the seniors showed significant differences for the following Praat-analyzed acoustic parameters: modal fundamental frequency (F0) in women (P < 0,0001), fraction of locally unvoiced frames (P < 0,0001), number of voice breaks (P < 0,0001), jitter local (P < 0,0001), jitter local abs (P < 0,0001), jitter rap (P < 0,0001), jitter ppq5 (P < 0,0001), shimmer local (P < 0,0001), shimmer local dB (P < 0,0001), shimmer apq3 (P < 0,0001), shimmer apq5 (P < 0,0001), mean N/H (P < 0,0001), and mean H/N (P < 0,001), for both sexes.

Conclusions: The Praat was confirmed to be a useful tool to detect the existence of the variation of the speech parameters in relation to aging and to quantify statistically significant differences that show a general deterioration in the voice quality, defined numerically. This might lead to a phoniatric treatment or speech therapy, which could improve patients' quality of life, leading to better vocal performance and social and communicative interaction.
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http://dx.doi.org/10.1016/j.jvoice.2016.05.022DOI Listing
March 2017

Otoneurological and Postural Assessment in Blind Scuba Divers.

Sultan Qaboos Univ Med J 2015 Nov 23;15(4):e569-71. Epub 2015 Nov 23.

Department of Ear, Nose & Throat, Università degli Studi di Siena, Siena, Italy.

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http://dx.doi.org/10.18295/squmj.2015.15.04.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664110PMC
November 2015

New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge.

Brain Dev 2008 Aug 28;30(7):461-8. Epub 2008 Jan 28.

Department of Pediatrics, Section of Pediatrics Neurology and Pediatrics Neuropsychiatric Unit, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, University of Siena, Viale Bracci, I-53100 Siena, Italy.

Objective: Case study of a CNS impairment lacking in presumptive cause; case presents with a clinical phenotype encompassing multiple differently expressed and combined symptoms, as well as a subtle skin defect.

Materials And Methods: A 6-year-old male with apparently isolated mental delay, speech delay, attention deficit/hyperactivity disorder, epilepsy, and subtle and insignificant skin dyschromias. The patient underwent a systematic evaluation, including clinical history; medical, neurological and ophthalmologic examinations. Skin, teeth, nails, hair and sudation were examined for defects. Routine laboratory tests for blood, urine, were performed. The proband had thyroid function tests, electrocardiography, genitourinary system and abdominal examinations. Special examinations pertaining to mental performance, biochemistry, chromosome studies, imaging and electrodiagnostic studies, and skin biopsy were also performed.

Results: Investigators ruled out genetic syndromes, congenital infections, fetal deprivation, perinatal insults, intrauterine exposure to drug abuse, and postnatal events such as CNS infections as possible common causes of brain impairment. Being all further test negative, the patient exhibited an ultrastructural defect of the skin, identical to that previously described [Buoni S, Zannolli R, de Santi MM, Macucci F, Hayek J, Orsi A et al. Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vesicular trafficking and melanosome defects. Eur J Neurol 2006;13:842-51], suggesting that some cell compartments, such as rough endoplasmic reticulum, lysosomes, Golgi apparatus, and the vesicular zone (racket) of Birbeck granules, sharing similar components, can be altered, resulting in a common defect in cell trafficking, associated to melanosome defects.

Conclusions: This new devasting, ultrastructural phenotype accompanied by apparently unspecific and mixed neurological symptoms should represent a future challenge to finally discover the pathogenesis of many childhood CNS symptoms, that currently seem to lack any apparent cause.
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http://dx.doi.org/10.1016/j.braindev.2007.12.008DOI Listing
August 2008

Polydactyly with ectodermal defect, osteopenia, and mental delay.

J Child Neurol 2008 Jun 8;23(6):683-9. Epub 2008 Jan 8.

Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy.

Five members from 3 generations, including a 35-year-old woman and her 2 sons, both mentally impaired to a different degree, were studied in a tertiary care hospital. Anamnestic, clinical, neurological, and radiological evaluations were used to describe phenotypes. A and B postaxial polydactyly, transmitted likely as autosomal dominant, was associated with an extensive variability of phenotypic features: (1) cutaneous syndactyly, (2) nail-teeth dysplasia, (3) osteopenia, and (4) mental delay. The likelihood that the constellation of observations we report here is caused by mutation of a single gene that subsequently affects multiple physiological activities, although fascinating, remains to be proven. Instead, we hypothesize that it likely develops as a contiguous gene syndrome.
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http://dx.doi.org/10.1177/0883073807309778DOI Listing
June 2008

Global developmental delay, osteopenia and ectodermal defect: a new syndrome.

Brain Dev 2006 Apr 20;28(3):155-61. Epub 2005 Dec 20.

Department of Paediatrics, Obstetrics and Reproductive Medicine, Section of Paediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy.

Unlabelled: Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive behavioral symptoms such as temper tantrums, aggressiveness, poor concentration and attention, impulsiveness, and mental retardation).

Setting: Tertiary care hospital.

Patients: Three children (two male siblings, and one unrelated girl).

Methods: We used the results from clinical neurological evaluations; imaging and electrodiagnostic studies; metabolic and genetic tests; skin biopsies and bone mineral densitometry. All three children suffered from (A) global developmental delay, (B) osteopenia, and (C) identical skin defects. The skin ultrastructural abnormalities were abnormal keratin differentiation, consisting of hyperkeratosis and granular layer thickening; sweat gland abnormalities, consisting of focal, cytoplasmic clear changes in eccrine secretory cells; and melanocyte abnormalities, with both morphological changes (reduced number and size without evident dendritic processes), and functional changes (defects in the migration of melanosomes in the keratinocytes). These patients present a previously unrecognized syndrome. We retain useful to report this new association, to be recognized, in the next future, as a specific key-sign of a well-defined genetic defect.
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http://dx.doi.org/10.1016/j.braindev.2005.06.011DOI Listing
April 2006

Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.

Int J Audiol 2003 Dec;42(8):475-80

Institute of Genetics and Biophysics 'A. Buzzati Traversò, Naples, Italy.

Otosclerosis is the single most common cause of hearing impairment among adult caucasians. Little is known about its aetiology and its molecular aspects. Until now, genetic linkage in otosclerosis has been demonstrated in an Indian family and a Belgian family, showing the presence of two otosclerosis loci, OTSC1 and OTSC2, respectively. Linkage analysis has never been applied to Italian otosclerotic families. We have collected four multigenerational Italian otosclerotic families that show dominant transmission for the pathology. Here, we report a detailed audiological analysis of these families and a genetic linkage study on the OTSC1 and OTSC2 loci. Statistical analysis revealed the absence of linkage between the disease in our families and the OTSC1 and OTSC2 loci. These data strongly suggest the presence of one or more additional loci for otosclerosis, which still need to be defined.
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http://dx.doi.org/10.3109/14992020309081517DOI Listing
December 2003