| 1. |
- Antonenko, Kateryna, et al.
(författare)
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Sex-related differences in risk factors, type of treatment received and outcomes in patients with atrial fibrillation and acute stroke: Results from the RAF-study (Early Recurrence and Cerebral Bleeding in Patients with Acute Ischemic Stroke and Atrial Fibrillation)
- 2017
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Ingår i: European Stroke Journal. - : SAGE Publications. - 2396-9873 .- 2396-9881. ; 2:1, s. 46-53
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Atrial fibrillation is an independent risk factor of thromboembolism. Women with atrial fibrillation are at a higher overall risk for stroke compared to men with atrial fibrillation. The aim of this study was to evaluate for sex differences in patients with acute stroke and atrial fibrillation, regarding risk factors, treatments received and outcomes. Methods: Data were analyzed from the ‘‘Recurrence and Cerebral Bleeding in Patients with Acute Ischemic Stroke and Atrial Fibrillation’’ (RAF-study), a prospective, multicenter, international study including only patients with acute stroke and atrial fibrillation. Patients were followed up for 90 days. Disability was measured by the modified Rankin Scale (0–2 favorable outcome, 3–6 unfavorable outcome). Results: Of the 1029 patients enrolled, 561 were women (54.5%) (p<0.001) and younger (p<0.001) compared to men. In patients with known atrial fibrillation, women were less likely to receive oral anticoagulants before index stroke (p¼0.026) and were less likely to receive anticoagulants after stroke (71.3% versus 78.4%, p¼0.01). There was no observed sex difference regarding the time of starting anticoagulant therapy between the two groups (6.411.7 days for men versus 6.512.4 days for women, p¼0.902). Men presented with more severe strokes at onset (mean NIHSS 9.26.9 versus 8.17.5, p<0.001). Within 90 days, 46 (8.2%) recurrent ischemic events (stroke/TIA/systemic embolism) and 19 (3.4%) symptomatic cerebral bleedings were found in women compared to 30 (6.4%) and 18 (3.8%) in men (p¼0.28 and p¼0.74). At 90 days, 57.7% of women were disabled or deceased, compared to 41.1% of the men (p<0.001). Multivariate analysis did not confirm this significance. Conclusions: Women with atrial fibrillation were less likely to receive oral anticoagulants prior to and after stroke compared to men with atrial fibrillation, and when stroke occurred, regardless of the fact that in our study women were younger and with less severe stroke, outcomes did not differ between the sexes.
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| 2. |
- Benatti, Alice, et al.
(författare)
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Endocochlear inflammation in cochlear implant users : Case report and literature review
- 2013
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - Amsterdam : Elsevier. - 0165-5876 .- 1872-8464. ; 77:6, s. 885-893
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Forskningsöversikt (refereegranskat)abstract
- Objectives: Cochlear implantation is a relatively safe procedure with a low complication rate. The overall rate of complications among cochlear implant patients ranges from 6% to 20%. Major complications are those that are life-threatening or require surgery, whereas minor complications are those that can be medically treated. Nonetheless, certain complications, even if highly rare, may require specific investigations and treatments. Among these rare complications are those with endocochlear involvement, such as cochleitis or labyrinthitis, with fibrosis or ossification that could lead to explantation. The aims of the present study were to report a particular case of post-operative cochleitis and to review the rate of complications after cochlear implantation, emphasising those conditions with proven endocochlear involvement.Methods: We refer to the case of an eight-year-old Italian boy affected by the sudden onset of headache, ipsilateral otalgia and facial paresis, who presented to our clinic for inexplicable worsening of the performance of his implant and his residual hearing, six years after surgery. A complete investigation including (clinical history, routine, autoimmune and serological blood tests, electrophysiological measurements from the cochlear implant and neuroimaging) was performed and is herein described. Additionally, a comprehensive review of the literature was conducted using internet search engines; 274 papers were selected, 88 of which were best suited to our purposes.Results: In our case, the progression of the symptoms and the performance decrement required explantation, followed by a complete recovery. Reviewing the literature revealed only three reports concerning cases of proven endocochlear phlogosis that required revision surgery. Wound swelling/infection and vertigo remain the two most common complications of cochlear implantation. Failure of the device is the third most frequent complication (10.06% of all complications and 1.53% of cochlear implantations). Other rare conditions (such as granulating labyrinthitis with cochlear fibrosis, ossification and erosion, silicone allergy and the formation of a biofilm around the internal device) are possible and unpredictable. Although rare (approximately 1%), such cases may require explantation.Conclusions: Despite efforts by both surgeons and manufacturers, device-related and surgical complications still occur. These and other rare conditions demand specific management, and their frequency may be underestimated. Further studies are needed to assess more realistic rates of complications and devise more efficient strategies for early diagnosis and treatment.
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| 3. |
- Bovo, Roberto, et al.
(författare)
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Cavernous hemangioma of the external ear : case report and literature review
- 2010
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Ingår i: B-ENT. - : Societe Royale Belge d'Oto - Rhino - Laryngologie et de Chirurgie Cervico - Faciale. - 1781-782X .- 1781-782X. ; 6:2, s. 127-130
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Forskningsöversikt (refereegranskat)abstract
- Objectives: To describethe occurrence of a cavernous hemangioma of the external auditory meatus extending to the middle ear and the retroauricolar region in an adult patient, and to review the relevant literature.Methods: Case report. We report the clinical presentation, imaging studies and surgical procedures used in the study.Results: The angiographic study showed that the blood supply of the mass originated from the posterior auricular artery. Via a retroauricular approach, this artery was isolated and ligated in order to control the intra-operative bleeding. A canal wall up mastoidectomy with posterior tympanotomy and a tympano-canaloplasty were performed, permitting a complete excision. At 36 months of follow-up, no clinical and radiological signs of recurrence were detected.Conclusion: Surgical removal is the treatment of choice, with rare recurrence of the hemangiomas. Pre-operative evaluation is based on computed tomography (CT scan), but should be followed by magnetic resonance angiography (MR-angio) or intra-arterial digital subtraction angiography (IA-DSA), especially in case of wider lesions.
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| 4. |
- Bovo, Roberto, et al.
(författare)
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Cochlear implant in Cogan syndrome
- 2011
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Ingår i: Acta Oto-Laryngologica. - : Taylor & Francis. - 0001-6489 .- 1651-2251. ; 131:5, s. 494-497
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Tidskriftsartikel (refereegranskat)abstract
- Conclusions: Despite the need for special fitting strategies, improvements in speech discrimination tests support the use of cochlear implantation (CI) for patients with Cogan syndrome. Adequate preimplant counselling is mandatory, to prevent high expectations and to stress the necessity for bilateral implantation.Objective: In 60% of patients with Cogan syndrome, CI remains the only treatment option. Literature data agree that once the electrode array is properly inserted, functional outcomes are very good. Nevertheless, results may deteriorate due to progressive cochlear ossification. A few studies have documented the outcomes of CI in these patients, but none have reported the long-term results.Methods: This was a retrospective study describing the outcomes of 3 implanted patients with Cogan syndrome – among 300 adult patients who received a cochlear implant, 3 had become deaf due to Cogan syndrome.Results: In one patient the cochlear ossification advanced and the speech perception abilities worsened from the highest category to identification of words in closed set. The second patient complained of an abrupt reduction of loudness at 18 months post-implant, which required an increased electrical stimulation. The third patient reached the identification category probably due to auditory dyssynchrony, as an atypical consequence of the syndrome.
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| 5. |
- Brotto, Davide, et al.
(författare)
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Salivary glands abnormalities in oculo-auriculo-vertebral spectrum
- 2018
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Ingår i: Clinical Oral Investigations. - Berlin, Germany : Springer. - 1432-6981 .- 1436-3771. ; 22:1, s. 395-400
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Tidskriftsartikel (refereegranskat)abstract
- Background: Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined.Material and methods: Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls.Results: All controls disclosed normal salivary glands. Abnormal parotid glands were found exclusively ipsilateral to facial microsomia in 21/25 OAVS patients (84%, aplasia in six patients) and showed no association with phenotype severity (14/16 patients with Goldenhar phenotype vs 7/9 patients with milder phenotype, p = 0.6). Submandibular salivary gland hypoplasia was detected in six OAVS patients, all with concomitant ipsilateral severe involvement of the parotid gland (p < 0.001). Submandibular salivary gland hypoplasia was associated to Goldenhar phenotype (p < 0.05). Parotid gland abnormalities were associated with ipsilateral fifth (p < 0.001) and seventh cranial nerve (p = 0.001) abnormalities. No association was found between parotid gland anomaly and ipsilateral internal carotid artery, inner ear, brain, eye, or spine abnormalities (p > 0.6).Conclusions: Salivary gland abnormalities are strikingly common in OAVS. Their detection might help the management of OAVS-associated swallowing and feeding impairment.
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| 6. |
- Busi, Micol, et al.
(författare)
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Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies
- 2015
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Ingår i: Biomedical Research International. - : Hindawi Publishing Corporation. - 2314-6133 .- 2314-6141. ; 2015
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Tidskriftsartikel (refereegranskat)abstract
- Background: Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders.Methods: The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations) on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests.Results: Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years). Among these, 143 patients (64 females and 79 males) presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children) ranged from 9 months and 16 years (average = 4.4; median = 3.0).Conclusions: Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities, even if central nervous system anomalies represent a negative prognostic factor that is made worse by the concomitant presence of cochlear malformations. Common cavity and stenosis of the internal auditory canal (less than 2 mm) are negative prognostic factors even if brain lesions are absent.
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| 7. |
- Busi, Micol, et al.
(författare)
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Novel mutations in the SLC26A4 gene
- 2012
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - Amsterdam : Elsevier. - 0165-5876 .- 1872-8464. ; 76:9, s. 1249-1254
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Mutations in the SLC26A4 gene (7q22.3–7q31.1) are considered one of the most common causes of genetic hearing loss. There are two clinical forms related to these mutations: syndromic and non-syndromic deafness. The first one is named Pendred Syndrome (PS) when deafness is associated with thyroid goiter; the second is called DFNB4, when no other symptoms are present. Both are transmitted as an autosomal recessive trait, but simple heterozygotes can develop both forms of deafness. Actually it is thought that Pendred Syndrome occurs when both alleles of SLC26A4 gene are mutated; DFNB4 seems due to monoallelic mutations. PS and DFNB4 can be associated with inner ear malformations. In most of the cases (around 80%), these consist in Enlarged Vestibular Aqueduct (EVA). EVA can also be present without SLC26A4 mutations.Understanding the role of new SLC26A4 variants should facilitate clinical assessment, as well as diagnostic and therapeutic approaches. This investigation aims to detect and report genetic causes of two unrelated Italian boys with hearing loss.Methods: Patients and family members underwent clinical, audiological and genetic evaluations. To identify genetic mutations, DNA sequencing of SLC26A4 gene (including all 21 exons, exon-intron boundaries and promoter region) was carried out.Results: Both probands were affected by congenital, progressive and fluctuating mixed hearing loss. Temporal bone imaging revealed a bilateral EVA with no other abnormalities in both cases. Probands were heterozygotes for previously undescribed mutations in the SLC26A4 gene: R409H/IVS2+1delG (proband 1) and L236P/K590X (proband 2). No other mutations were detected in GJB2, GJB6 genes or mitochondrial DNA (mit-DNA).Conclusions: The IVS2+1delG and K590X mutations have not yet been described in literature but there is some evidence to suggest that they have a pathological role. The results underlined the importance of considering the complete DNA sequencing of the SLC26A4 gene for differential molecular diagnosis of deafness, especially in those patients affected by congenital, progressive and fluctuating mixed hearing loss with bilateral EVA.
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| 8. |
- Castiglione, Alessandro, 1976-, et al.
(författare)
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Aging, Cognitive Decline and Hearing Loss : Effects of Auditory Rehabilitation and Training with Hearing Aids and Cochlear Implants on Cognitive Function and Depression among Older Adults
- 2016
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Ingår i: Audiology & neuro-otology. - Basel : S. Karger. - 1420-3030 .- 1421-9700. ; 21:Sup. 1, s. 21-28
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Tidskriftsartikel (refereegranskat)abstract
- A growing interest in cognitive effects associated with speech and hearing processes is spreading throughout the scientific community essentially guided by evidence that central and peripheral hearing loss is associated with cognitive decline. For the present research, 125 participants older than 65 years of age (105 with hearing impairment and 20 with normal hearing) were enrolled, divided into 6 groups according to their degree of hearing loss and assessed to determine the effects of the treatment applied. Patients in our research program routinely undergo an extensive audiological and cognitive evaluation protocol providing results from the Digit Span test, Stroop color-word test, Montreal Cognitive Assessment and Geriatric Depression Scale, before and after rehabilitation. Data analysis was performed for a cross-sectional and longitudinal study of the outcomes for the different treatment groups. Each group demonstrated improvement after auditory rehabilitation or training on short- and long-term memory tasks, level of depression and cognitive status scores. Auditory rehabilitation by cochlear implants or hearing aids is effective also among older adults (median age of 74 years) with different degrees of hearing loss, and enables positive improvements in terms of social isolation, depression and cognitive performance.
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| 9. |
- Castiglione, Alessandro, 1976-, et al.
(författare)
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Correspondence Between Cognitive and Audiological Evaluations Among the Elderly : A Preliminary Report of an Audiological Screening Model of Subjects at Risk of Cognitive Decline With Slightto Moderate Hearing Loss
- 2019
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Ingår i: Frontiers in Neuroscience. - Lausanne : Frontiers Media S.A.. - 1662-4548 .- 1662-453X. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- Epidemiological studies show increasing prevalence rates of cognitive decline and hearing loss with age, particularly after the age of 65 years. These conditions are reported to be associated, although conclusive evidence of causality and implications is lacking. Nevertheless, audiological and cognitive assessment among elderly people is a key target for comprehensive and multidisciplinary evaluation of the subject's frailty status. To evaluate the use of tools for identifying older adults at risk of hearing loss and cognitive decline and to compare skills and abilities in terms of hearing and cognitive performances between older adults and young subjects, we performed a prospective cross-sectional study using supraliminal auditory tests. The relationship between cognitive assessment results and audiometric results was investigated, and reference ranges for different ages or stages of disease were determined. Patients older than 65 years with different degrees of hearing function were enrolled. Each subject underwent an extensive audiological assessment, including tonal and speech audiometry, Italian Matrix Sentence Test, and speech audiometry with logatomes in quiet. Cognitive function was screened and then verified by experienced clinicians using the Montreal Cognitive Assessment Score, the Geriatric Depression Scale, and further investigations in some. One hundred twenty-three subjects were finally enrolled during 2016-2019: 103 were >65 years of age and 20 were younger participants (as controls). Cognitive functions showed a correlation with the audiological results in post-lingual hearing-impaired patients, in particular in those affected by slight to moderate hearing loss and aged more than 70 years. Audiological testing can thus be useful in clinical assessment and identification of patients at risk of cognitive impairment. The study was limited by its sample size (CI 95%; CL 10%), strict dependence on language, and hearing threshold. Further investigations should be cond
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| 10. |
- Castiglione, Alessandro, 1976-, et al.
(författare)
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EYA1-related disorders : two clinical cases and a literature review
- 2014
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - Amsterdam : Elsevier. - 0165-5876 .- 1872-8464. ; 78:8, s. 1201-1210
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Forskningsöversikt (refereegranskat)abstract
- Objectives: To delineate the diagnostic and rehabilitative aspects of syndromes that have overlapping features, we present the cases of two unrelated Caucasian males affected by hearing impairment, preauricular pits and cervical fistulae. Specific findings that are helpful in the diagnosis and management of EYA1-related disorders are highlighted.Methods: Genetic, otologic, imaging, eye and renal evaluations were conducted to achieve a detailed and comprehensive assessment, leading to the most accurate diagnosis and appropriate treatment. A literature review was also carried out.Results: Diagnostic criteria indicated that the two patients were affected by BOS1 (Branchio-Otic Syndrome 1). We also identified a novel sporadic missense mutation in the EYA1 gene: p.G533R (c.1597G>A, NM_000503.4), a highly conserved, heterozygotic amino acid substitution. In the other case, we identified the p.X593QextX6 (c.1777T>A, NM_000503.4) substitution. Both variants lead to isoform 1 (EYA1B and EYA1C) which is composed of 592 amino acids. Clinical and in silico evidence suggests a pathogenic role for the new mutations. Imaging evaluation revealed a complex pathology, characterized by external, inner and middle ear malformations, without renal anomalies.Conclusions: Our results demonstrate the importance of considering the imaging evaluation and the complete DNA sequencing of the EYA1 gene for the differential diagnosis of deafness and related branchio-oto-renal disorders.
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