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Biomedical subjects

S Berrettini

Publications and source records attributed to S Berrettini.

At least 19 recordsLinked to original sources
PubMed2006

Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions.

Auditory neuropathy (AN) is a hearing disorder characterized by the absence or severe distortion of the auditory brainstem responses, in the presence of preserved otoacoustic emissions. This peculiar combination suggests the presence of a defect impinging upon the functional complex formed by inner hair cells, the primary afferents (spiral ganglion neurones) and the first order synapses between hair cells and the cochlear nerve. Typically, AN patients show a severe speech perception impairment, which appears reduced out of proportion to pure tone threshold, but the clinical presentation of AN is quite complex. Hearing loss is a common symptom associated with mitochondrial diseases; however, AN has only rarely been reported in these disorders. Here we report a rare association, the first case observed in Italy, in a patient with autosomal recessive mitochondrial myopathy and mitochondrial DNA multiple deletions, and a hearing deficit with the audiological and electrophysiological features of AN.

DNA, Mitochondrial↗
PubMed2006

IERAPSI project: simulation of a canal wall-up mastoidectomy.

Among the various EU research projects concerning the medical application of virtual reality, the project Ist-1999-12175, called IERAPSI (Integrated Environment for the Rehearsal and Planning of Surgical Interventions), specifically addressed the creation of a virtual and interactive surgical field for the temporal bone using three-dimensional images derived from CT data. We report on the experience obtained in the IERAPSI project in simulating a canal wall-up mastoidectomy. A surgeon with extensive experience in surgery of the petrous bone performed the mastoidectomy. The operative field included the mastoid, with its substantial differences in density between the cortex and the pneumatized bone, together with soft tissue structures, both on the border and inside the bone. The simulation is better in the first part of the operation than in the second part, suffering from a lack of haptic feedback from soft tissue and the surgical tool in deeper contexts, and under-representation of the variability inherent in pneumatized bone. This said, the excellent representation of dust production and removal, 3D simulation through color, and very good visual and haptic feedback in the early stage of the procedure are impressive. IERAPSI represents a potential surgical planning theater for the training of students and young surgeons, but is also expected to aid expert surgeons in the preoperative planning of difficult cases.

Computer Simulation↗
PubMed2004

Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.

Pendred syndrome and the enlarged vestibular aqueduct (EVA) are considered phenotypic variations of the same entity due to mutations in the SLC26A4 (pendrin) gene. Pendred syndrome consists in sensorineural deafness, goiter and impaired thyroid hormone synthesis while in EVA thyroid function seems to be preserved. The aim of this study was to evaluate thyroid function and morphology and to look for mutations in the SLC26A4 gene in patients presented with EVA. Among 57 consecutive patients with sensorineural deafness 15 with EVA, as assessed by magnetic resonance imaging (MRI), were identified and studied. A complete evaluation of thyroid function including thyroid echography and perchlorate discharge test was carried out in all patients with EVA; all exons of the SLC26A4 gene were amplified from peripheral leukocytes and directly sequenced, using specific intronic primers. Out of 15 patients with EVA, goiter was present in 8 (53%), hypothyroidism in 7 (47%), increased serum thyroglobulin levels in 8 (53%) and a positive perchlorate discharge test in 10 (67%). Nine alleles of the SLC26A4 gene were mutated: 2 novel mutations (L465W and G497R) and 4 already known mutations (T410M, R409H, T505N and IVS1001+1G>A) were found. Four subjects were compound heterozygous and 1 heterozygous (G497R/wt). All patients harbouring mutations in the SLC26A4 gene had goiter and a positive perchlorate discharge test: 3 were slightly hypothyroid and 2 euthyroid. The remaining 10 patients had no mutations in the SLC26A4 gene: 4 of them were hypothyroid, 2 with goiter and positive perchlorate discharge test, 2 without goiter and with negative perchlorate discharge test. Two patients without mutations were euthyroid with positive perchlorate discharge test. Patients with mutations in the SLC26A4 gene had larger thyroid volume (p<0.002), higher serum thyroglobulin (Tg) levels (p<0.002) and greater radioiodine discharge after perchlorate (p=0.09) than patients without mutations. The results of the present study lend support to the concept that all patients with mutated SLC26A4 gene have abnormalities of thyroid function tests.

Adolescent↗
PubMed2004

A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation.

We described a patient with progressive non-syndromic hearing loss (NSHL) harboring the A3243G mutation in the mitochondrial DNA (mtDNA). Muscle biopsy showed scattered ragged-red, cytochrome c oxidase negative fibers, whereas the biochemical analysis of the mitochondrial respiratory chain complexes was normal. Restriction fragment length polymorphism (RFLP) analysis showed A3243G mtDNA transition, present at very low in patient's muscle (3%) and in urinary sediments (1%), and not detectable in blood and buccal mucosa. The patient was submitted to a bilateral cochlear implantation with post-operative excellent hearing and communicative outcomes. Our findings indicate that A3243G mutation may be responsible both for SHL and NSHL, may be depending on the levels of mutated mtDNA. Patients with hearing loss due to mtDNA mutations should be considered as good candidates for cochlear implantation.

Aged↗
PubMed2002

[Therapeutic maneuvers in the treatment of paroxysmal positional vertigo: can they indicate a central genesis?].

Typical Paroxysmal Positional Nystagmus (PPNy) is a highly specific clinical finding that indicates the existence of a specific peripheral lesion: Paroxysmal Positional Vertigo (PPV). However, besides this typical nystagmus of high topodiagnostic significance, atypical PPNy's are also frequently found. Such atypical findings can lead one to suspect a central vestibular system pathology and often require additional diagnostic testing. Of 1805 patients with complaints of vertigo, 305 proved affected by PPV. The present study evaluated how patients affected by the posterior semicircular canal PPV (278/305, 91.2%) responded to canalith repositioning maneuvers. In 246 patients (88.5%) the Semont maneuver was performed as simplified by Toupet, while the remaining 32 subjects (11.5%) were treated with the Epley maneuver as modified by Herdman. The Semont maneuver provides the relief of symptoms in 96% of patients while the Epley maneuver resolved 78% of cases. The patients that did not respond to the maneuvers, even after several attempts, were subsequently treated using "habituation"-based rehabilitation techniques (the Brandt-Daroff technique and Vestibular Habituation Training). The presence of atypical PPNy was found in 57 subjects. Of these, the liberatory maneuver always resolved the PPV. In the present study, the choice to perform a neuroradiological study was based on the lack of response to physical therapy, whether performed with liberatory maneuvers or with habituation techniques. In 2 of the 3 cases of PPV which remained unchanged despite treatment, imaging revealed a severe expansive CNS pathology. In these patients the dizziness complaints disappeared after neurosurgery: this fact appears to confirm the central origin of these PPNy cases. These data clearly indicate that the results of PPV treatment must be carefully evaluated. In cases of PPV of the PSC, when either typical or atypical PPNy persists one month after diagnosis, with no appreciable period of remission, neuroradiological tests should be performed in order to rule out any CNS pathology.

Adult↗
PubMed2002

[Diagnostic evaluation of "acute" vertigo].

Numerous studies of outpatients have been effected with the object of evaluating the role of the different causes of vertigo, and these have clearly evidenced the importance of the individual disciplinary sectors and, consequently, of the clinicoinstrumental exams necessary in order to reach the correct etiopathogenetic interpretation of the dizzy syndrome. We report the experience of a retrospective study carried out in 310 patients suffering from dizziness who were sent to us from the Emergency Room with a generic diagnosis of "acute vertigo". A detailed medical history was taken in every case, after which the patients underwent a series of otoneurological examinations which enabled us to situate each in the ambit of a vestibular pathology (central and/or peripheral) or to schedule him for a series of specialized exams, the indication of which was drawn directly from the characteristics of the clinical examination and medical history associated with the vertigo symptomatology. Of the 157 cases (50.6%) with otoneurological signs compatible with a vestibular involvement, 77 presented positional paroxysmal vertigo, 34 had an acute peripheral vestibulopathy, and 32 manifested sufferance of the central vestibular structures. In 137 patients, the otoneurological exam was negative and further investigations led to the identification of a psychogenic form in 54 cases, a cardiovascular disease in 31 cases, and a neurological disorder in 24 cases. Our data highlights the fundamental role of the anamnestic approach and the objective examination with particular reference to the search for nystagmic evidence that enabled us to make a definitive diagnosis in an elevated number of cases. In the remainder, we proceeded to perform various instrumental examinations, at times upon the request of the other specialists involved in the management of the vertigo patient. By means of a structured and detailed medical interview, it was possible to obtain useful information that directed our investigation towards a clear distinction between extravestibular and vestibular forms. In this way, furthermore, the same information was able to supply a whole series of clinical indicators of fundamental importance in identifying the most suitable specialist for the clinical picture under examination. A detailed knowledge of the different pathologies (vestibular and extravestibular) capable of causing acute vertigo appears to us to be of fundamental importance if the patients sent from the Emergency Room is to be properly evaluated. From the above, one may see how fundamental a multidisciplinary approach is in appraising the vertigo patients, enabling the correct diagnosis to be reached rapidly and economically, as demonstrated by the results obtained by our group, in which we failed to reach a precise diagnostic conclusion in only 5% of the cases.

Acute Disease↗
PubMed2001

Virtual endoscopy of the middle ear.

Virtual endoscopy is a computer-generated simulation of fiberoptic endoscopy, and its application to the study of the middle ear has been recently proposed. The need to represent the middle ear anatomy by means of virtual endoscopy arose from the increased interest of otolarygologists in transtympanic endoscopy. In fact, this imaging method allows the visualization of middle ear anatomy with high detail, but it is evasive and is essentially used for surgical guidance. Virtual endoscopy provides similar perspectives of the tympanic cavity but does not require the tympanic perforation. In the study of the middle ear, specific attention is given to the retroperitoneum. This region contains elevations of the medial wall (pyramidal eminence and ridge, styloid eminence and ridge, subiculum, ponticulus) and depressions (sinus tympani, posterior sinus tympani, facial sinus, fossula of Grivot, oval window fossula), which can be effectively displayed by virtual endoscopy. Virtual endoscopy is foreseen as a useful tool in preoperative management of patients who are candidates for middle ear surgery, since it can predict with high detail the patient's specific anatomy by imaging perspectives familiar to otosurgeons.

Computer Simulation↗
PubMed2001

The importance of nasal resistance in obstructive sleep apnea syndrome: a study with positional rhinomanometry.

The importance of nasal obstruction in the pathogenesis of obstructive sleep apnea syndrome (OSAS) has not yet been totally defined. Numerous studies have reported an association between nasal obstruction and OSAS, but the precise nature of this relationship remains to be clarified. This study was undertaken to evaluate the prevalence of nasal obstruction disorders in a group of OSAS patients. For this purpose, we analyzed the nasal resistance of 36 OSAS patients by performing a traditional basal anterior active rhinomanometry test (AAR) and a positional AAR, with the patient in a supine position. Seven patients had a pathologic nasal resistance in the seated position that increased further in the supine position; 9 patients had normal resistance in the seated position but a pathologic resistance in the supine position. In 20 patients, nasal resistance was normal in both positions. No statistically significant differences in the degree of apnea/hypopnea index (AHI) was found between the 20 patients with normal positional AAR and the 16 with pathologic positional AAR (p = 0.13). Moreover, no statistically significant differences in the degree of AHI was found between the 7 patients with pathologic basal and positional AAR and the 9 patients with normal basal AAR and pathologic positional AAR (p = 0.38).

Adult↗
PubMed2001

Large vestibular aqueduct in distal renal tubular acidosis. High-resolution MR in three cases.

High-resolution MR of the inner ear performed in 3 consecutive pediatric patients affected by distal renal tubular acidosis (dRTA) and progressive sensorineural hearing loss (SNHL) revealed enlarged vestibular aqueducts (LVA) (bilateral in 1 case and unilateral in 2). LVA is associated to sporadic, progressive SNHL, often secondary to minor head trauma and activities involving the Valsalva maneuver. We believe that the presence of LVA may have contributed to the onset of SNHL and its progression in our patients, and therefore want to stress the importance of morphological studies of the inner ear in patients affected by dRTA and SNHL.

Acidosis, Renal Tubular↗
PubMed2001

Sudden bilateral hearing loss and sporadic mitochondrial DNA deletion.

Several studies have indicated that a number of different mitochondrial DNA (mtDNA) mutations may be responsible for human pathologies. Sensorineural Hearing Loss (SNHL) may be associated with known syndromes (syndromal SNHL) or represent the only manifestation of mitochondrial damage (non-syndromal hearing loss). Moreover, mtDNA alterations may be responsible for aminoglycoside-induced deafness. We describe a patient harbouring a single sporadic mtDNA deletion, who presented with sudden adult-onset bilateral, although non-simultaneous SNHL, that was partially responsive to corticosteroids. Increased values of rest, and exercise, blood lactic acid were decisive for diagnosis, prompting muscle biopsy that revealed the mtDNA deletion. The case underscores the importance of investigating a mitochondrial disease in cases of SNHL of unknown origin and points out the importance of an increased blood level of lactic acid as a screening test.

DNA, Mitochondrial↗
PubMed2001

Sudden hypoacusis treated with hyperbaric oxygen therapy: a controlled study.

The term sudden hypoacusis describes a hearing loss of rapid onset and unknown origin that can progress to severe deafness. Of the many therapeutic protocols that have been proposed for treating sudden hypoacusis, hyperbaric oxygen therapy (HOT) plays a leading role. We studied 50 patients who had been referred to our ENT unit within 48 hours of the onset of sudden hypoacusis. We randomly assigned 30 of these patients to undergo once-daily administration of HOT for 10 days; the other 20 patients were treated for 10 days with an intravenous vasodilator. Response to therapy in all patients was evaluated by calculating the mean hearing threshold at frequencies between 500 and 4,000 Hz and by assessing liminal tonal audiometry results recorded at baseline and 10 days after the cessation of treatment. These results, plus the findings of other audiologic and otoneurologic examinations, revealed that the patients in the HOT group experienced a significantly greater response to treatment than did those in the vasodilator group, regardless of age and sex variables. Significantly more patients in the HOT group experienced a good or significant response. In both groups, patients with pantonal hypoacusis responded significantly better than did those with a milder condition. Based on our findings, coupled with the fact that oxygen therapy is well tolerated and produces no side effects, we conclude that HOT should be considered the preferred treatment for patients with sudden hypoacusis.

Female↗
PubMed2000

High-resolution magnetic resonance and volume rendering of the labyrinth.

Our aim was to verify the feasibility of volume rendering (VR) of high-resolution magnetic resonance (HR-MR) data sets of the labyrinth. We retrospectively reviewed the HR-MR data sets of 16 consecutive patients with no MR evidence of labyrinthine pathology. High-resolution MR data sets were obtained by means of a 3D T2-weighted FSE sequence with the use of a 3-in. circular surface coil for signal reception, and processed with a high-end workstation. Two reviewers performed separately VR of the labyrinth by selecting the signal intensity interval for attribution of opacity and transparency. Concerning the time taken for definition of the volume of interest, the two observers needed, respectively, 28.9 and 33.1 min (SD +/- 8.7-9.5 min), whereas the time taken for VR was respectively, 26 and 33.2 min (SD +/- 8.8-8.9 min). Concerning the selection of the signal intensity interval, the two observers had, respectively, 86.4 and 88.7 mean lower threshold (SD +/- 34.5-33.5), 488.9 and 495.4 mean upper threshold (SD +/- 56.3-53.8). In our experience, we have found VR of HR-MR to offer a reliable and reproducible technique for producing 3D representations of the labyrinth. The VR algorithms use all data within the imaging volume and optimize the dynamic range ascribed to the object being visualized.

Adolescent↗
PubMed2000

A novel mutation in the pendrin gene associated with Pendred's syndrome.

OBJECTIVE: Pendred's syndrome is an autosomal recessive disorder characterized by goitre, sensorineural deafness and iodide organification defect. It is one of the most frequent causes of congenital deafness, accounting for about 10% of hereditary hearing loss. It is caused by mutations in the pendrin (PDS) gene, a 21 exon gene located on chromosome 7. The aim of this study was to examine an Italian family affected with Pendred's syndrome at the molecular level. PATIENTS: Thirteen subjects belonging to a family from Southern Italy were evaluated for the clinical and genetic features of Pendred's syndrome. MEASUREMENTS: Exons 2-21 of the PDS gene were amplified from peripheral leucocytes by the polymerase chain reaction; mutation analysis was performed by single strand conformation polymorphism, direct sequencing and restriction analysis. RESULTS: The index patient had the classical triad of the syndrome and harboured two mutations in the PDS gene in the form of compound heterozygosity. He was found to be heterozygous for a cytosine to adenosine mutation at nucleotide 1523 in exon 13 and for a IVS 1001 + 1G --> A mutation. The former is a novel mutation which results in a change of 508 threonine to asparagine in the putative eleventh transmembrane domain. The latter mutation in the donor splice site has already been described in other patients and is thought to lead to aberrant splicing and premature protein truncation. Three subjects who were heterozygous for one mutation had normal phenotypes. Two subjects had sensorineural deafness and were heterozygous for a single mutation. Goitre was found only in patients with Pendred's syndrome and was absent in all other individuals, albeit residing in an iodine-deficient area. CONCLUSIONS: We have identified a novel mutation in the pendrin gene causing Pendred's syndrome, and confirm that molecular analysis is a useful tool for a definitive diagnosis. This is particularly relevant in cases such as in the subjects of our family in which the clinical features might be misleading and other genetics factors might be responsible for deafness.

Adult↗
PubMed1999

Langerhans' cells histiocytosis.

Langerhans cell histiocytosis (LCH) is a rare disorder of unknown cause, characterized by the proliferation of histiocytic cells in various tissues and organs. The role of the otolaryngologist is important in the early and accurate evaluation, staging and diagnosis of LCH, because it may mimic more common diseases such as otitis externa and acute mastoiditis. We discuss a case report of bilateral mastoid involvement in a child with a history of otalgia unresponsive to medical therapy.

Acute Disease↗
PubMed1999

Progressive sensorineural hearing loss in childhood.

A progressive sensorineural hearing loss in childhood, with an extremely variable prevalence (from 4% to 30%), has been reported in the literature. This wide range of reported figures could depend on the different criteria used for identifying the deterioration, the groups, and the examined age ranges. The most frequent etiology of progressive sensorineural hearing loss in childhood includes hereditary causes, both syndromic and nonsyndromic, and developmental and infectious causes, whereas metabolic, toxic, autoimmune, traumatic, and vascular etiologies are less common; however, the origin of the hearing impairment often remains unknown. The population for this study consisted of 178 children with bilateral sensorineural hearing loss who were examined between 1971 and 1993 using audiologic tests. Syndromal genetic hearing loss was excluded from the study. A progressive loss of acuity was found in 11 subjects, with a prevalence of 6.2%. The etiology was hereditary deafness in five patients, congenital infection in one, and congenital inner ear anomaly in another patient; in the last four children the etiology was unknown. Onset of deterioration was after 4 years of age in 73% of the patients. The progressive evolution was binaural in almost all patients (10 of 11) and asymmetric in most, with a tendency to a greater deterioration at the frequencies initially least affected.

Age of Onset↗
PubMed1999

Perennial allergic rhinitis and chronic sinusitis: correlation with rhinologic risk factors.

BACKGROUND: The reported association of allergy and sinusitis varies greatly between study, and the exact role of allergy in predisposing to sinusitis is not clear. We attempted to determine whether patients with perennial allergic rhinitis are at greater risk of developing sinusitis with respect to a control group, and to determine whether there is a correlation between rhinomanometry, endoscopy, and nasal swab, and computed tomography (CT) findings. METHODS: Forty adult patients with perennial allergic rhinitis underwent CT scans of the paranasal sinuses, and the results were then compared to CTs of the paranasal sinuses of 30 control subjects. All allergic patients underwent nasal endoscopy, nasal swab, and active anterior rhinomanometry, and the results were studied in relation to the CT findings. RESULTS: We found sinusitis in 67.5% of the allergic patients and in 33.4% of the controls, with a statistically significant difference between the two groups (P = 0.017). Twenty-three patients had a positive nasal swab; 22 showed increased nasal resistance on rhinomanometry, and 36 had positive endoscopy, but the association of CT findings with endoscopy, rhinomanometry, or nasal swab was not statistically significant (P = 0.583, P = 1.00, P = 0.506, respectively). CONCLUSIONS: Allergic rhinitis is often associated with sinusitis, but the underlying mechanism has yet to be determined. Evidently, factors other than classical pathogen growth and mechanical factors, such as the association of the various factors and immunologic mechanisms, may contribute to the pathogenesis of chronic sinusitis in allergic patients.

Adolescent↗
PubMed1999

[Orbital decompression in Grave's disease: comparison of techniques].

Grave's ophthalmopathy is an inflammatory, autoimmune disorder often associated with Grave's disease. The inflammatory infiltration involves the retrobulbar fatty tissue and the extrinsic eye muscles, causing proptosis, extraocular muscle dysfunction and often diplopia. Orbital decompression is an effective treatment in such cases, particularly when resistant to drugs and external radiation therapy. This work compares the results of orbital decompression performed by removing: a) the medial and lateral walls (Mourits technique) in 10 patients (19 orbits) and b) the medial and lower walls (Walsh-Ogura technique) in 17 patients (31 orbits). The results show that removing the floor of the orbit enables better reduction of proptosis but more easily leads to post-operative diplopia. Thus it proves necessary to combine the two techniques, modifying the surgical approach on a case-by-case basis.

Decompression, Surgical↗