RESUMO
BACKGROUND: Hearing loss impacts health-related quality of life and general well-being and was identified in a Lancet report as one of the largest potentially modifiable factors for the prevention of age-related dementia. There is a lack of robust data on how cochlear implant treatment in the elderly impacts quality of life. The primary objective was to measure the change in health utility following cochlear implantation in individuals aged ≥ 60 years. METHODS: This study uniquely prospectively recruited a large multinational sample of 100 older adults (mean age 71.7 (SD7.6) range 60-91 years) with severe to profound hearing loss. In a repeated-measures design, pre and post implant outcome measures were analysed using mixed-effect models. Health utility was assessed with the Health Utilities Index Mark III (HUI3). Subjects were divided into groups of 60-64, 65-74 and 75 + years. RESULTS: At 18 months post implant, the mean HUI3 score improved by 0.13 (95%CI: 0.07-0.18 p < 0.001). There was no statistically significant difference in the HUI3 between age groups (F[2,9228] = 0.53, p = 0.59). The De Jong Loneliness scale reduced by an average of 0.61 (95%CI: 0.25-0.97 p < 0.014) and the Lawton Instrumental Activities of Daily Living Scale improved on average (1.25, 95%CI: 0.85-1.65 p < 0.001). Hearing Handicap Inventory for the Elderly Screening reduced by an average of 8.7 (95%CI: 6.7-10.8, p < 0.001) from a significant to mild-moderate hearing handicap. Age was not a statistically significant factor for any of the other measures (p > 0.20). At baseline 90% of participants had no or mild depression and there was no change in mean depression scores after implant. Categories of Auditory perception scale showed that all subjects achieved a level of speech sound discrimination without lip reading post implantation (level 4) and at least 50% could use the telephone with a known speaker. CONCLUSIONS: Better hearing improved individuals' quality of life, ability to communicate verbally and their ability to function independently. They felt less lonely and less handicapped by their hearing loss. Benefits were independent of age group. Cochlear implants should be considered as a routine treatment option for those over 60 years with bilateral severe to profound hearing loss. TRIAL REGISTRATION: ClinicalTrials.gov ( http://www. CLINICALTRIALS: gov/ ), 7 March 2017, NCT03072862.
Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Perda Auditiva , Percepção da Fala , Idoso , Idoso de 80 Anos ou mais , Humanos , Atividades Cotidianas , Surdez/cirurgia , Perda Auditiva/diagnóstico , Perda Auditiva/terapia , Qualidade de Vida , Resultado do Tratamento , Pessoa de Meia-IdadeRESUMO
Janzen's hypothesis (JH) posits that low thermal variation selects for narrow physiological tolerances, and thus small species distributional ranges and high species turnover along tropical elevational gradients. Although this hypothesis has been intensely revisited, it does not explain how many tropical species may exhibit broad distributions, encompassing altitudinal gradients. Moreover, the physiological responses of tropical species remain largely unknown, limiting our understanding on how they respond to climate variation. To fill these knowledge gaps, we tested a major component of JH, the climate variability hypothesis (CVH), which predicts broader thermal tolerance breadth (Tbr = CTmax - CTmin) with broader temperature variation. Specifically, we sampled populations of five amphibian species distributed in two mountain ranges in Brazil's Atlantic Forest to test how CTmin and CTmax vary along elevational gradients. Since both thermal and water balance traits are pivotal to the evolutionary history of amphibians, we also measured rates of dehydration and rehydration and their relations with thermal tolerances. We found that broader temperature variation with increasing altitude did not always lead to broader Tbr, since changes in CTmin and CTmax were species-specific. In addition, we found that water balance did not show consistent variation with altitude, also with low correlations between hydric and thermal traits. While we also found that highland populations are at lower risk of thermal stress than lowland counterparts, both are living far from their upper thermal limits. As a consequence of intraspecific variation in physiological traits and spatial variation in climate along altitude, responses to climate variation in tropical amphibian species were context-dependent and heterogeneous. Together with recent studies showing thermal tolerances of some tropical amphibians comparable to temperate taxa, our findings highlight that several responses to climate variation in tropical species may not conform to predictions made by either the CVH or other important hypotheses concerning physiological variation. This reinforces the need to overcome geographical bias in physiological data to improve predictions of climate change impacts on biodiversity. (Portuguese abstract) Resumo A Hipótese de Janzen (JH) postula que a baixa variação térmica seleciona tolerâncias fisiológicas estreitas e, portanto, amplitudes restritas de distribuição das espécies e alta substituição de espécies ao longo de gradientes altitudinais tropicais. Embora intensamente revisitada, essa hipótese não explica como espécies tropicais podem exibir amplas distribuições geográficas, abrangendo gradientes altitudinais. Além disso, as respostas fisiológicas das espécies tropicais permanecem amplamente desconhecidas, limitando nossa compreensão sobre como elas respondem à variação climática. Para preencher essas lacunas de conhecimento, testamos um componente importante da JH, a Hipótese de Variabilidade Climática (CVH), que prevê uma maior amplitude de tolerância térmica (Tbr = CTmax - CTmin) quando a variação da temperatura ambiental é mais ampla. Especificamente, amostramos populações de cinco espécies de anfíbios distribuídas em duas cadeias montanhosas na Mata Atlântica do Brasil para testar como CTmin e CTmax variam ao longo de gradientes de altitude. Dado que parâmetros térmicos e do balanço hídrico são fundamentais para a história evolutiva dos anfíbios, também medimos as taxas de desidratação e reidratação e suas relações com as tolerâncias térmicas. Encontramos que uma variação de temperatura ambiental mais ampla com o aumento da altitude nem sempre conduz a uma Tbr mais ampla, uma vez que as mudanças em CTmin e CTmax foram espécie-específicas. Além disso, encontramos que o balanço hídrico não apresentou variação consistente com a mudança de altitude, e que as correlações entre parâmetros hídricos e térmicos foram baixas. Embora populações das maiores altitudes apresentaram menor risco de estresse térmico do que populações da mesma espécie em altitudes menores, ambas estão vivendo longe de seus limites térmicos superiores. Em consequência da variação intraespecífica em parâmetros fisiológicos e variação espacial no clima ao longo da altitude, as respostas à variação climática em espécies de anfíbios tropicais foram contexto-dependentes e heterogêneas. Juntamente com estudos recentes indicando tolerâncias térmicas de alguns anfíbios tropicais comparáveis a de táxons temperados, nossas descobertas destacam que várias respostas à variação climática em espécies tropicais podem não estar de acordo com as previsões feitas pela CVH ou outras hipóteses importantes sobre a variação fisiológica. Isso reforça a necessidade de superar o viés geográfico em dados fisiológicos para aperfeiçoar previsões dos impactos das mudanças climáticas sobre a biodiversidade. (Spanish abstract) Resumen La hipótesis de Janzen (JH) postula que la baja variación térmica selecciona tolerancias fisiológicas estrechas y, por lo tanto, rangos de distribución de especies restringidos con alta rotación de especies a lo largo de gradientes de elevación tropicales. Aunque esta hipótesis ha sido intensamente discutida, no explica cómo várias especies tropicales pueden exhibir distribuciones amplias, abarcando gradientes altitudinales. Además, las respuestas fisiológicas de las especies tropicales siguen siendo bastante desconocidas, lo que limita la comprensión de cómo responden a la variación climática. Para llenar estos vacíos de conocimiento, examinamos un componente importante de JH, la Hipótesis de Variabilidad Climática (CVH), que predice mayor amplitud de tolerancia térmica (Tbr = CTmax - CTmin) cuando la variación de temperatura es más amplia. Específicamente, tomamos muestras de poblaciones de cinco especies de anfibios distribuidas en dos cadenas montañosas en el Bosque Atlántico de Brasil para verificar cómo CTmin y CTmax varían a lo largo de este gradiente de elevación. Dado que los rasgos de equilibrio térmico y hídrico son fundamentales para la historia evolutiva de los anfibios, también medimos las tasas de deshidratación y rehidratación y sus relaciones con las tolerancias térmicas. Encontramos que una variación de temperatura más amplia con el aumento de la altitud no siempre conduce a una Tbr más amplia, ya que los cambios en CTmin y CTmax son específicos de la especie. Además, encontramos que el balance hídrico no muestra variación consistente con la altitud, con bajas correlaciones también entre los rasgos hídricos y térmicos. Si bien las poblaciones de las tierras altas tienen un menor riesgo de estrés térmico que las contrapartes de las tierras bajas, ambas se encuentran lejos de sus límites térmicos superiores. Como consecuencia de la variación intraespecífica en los rasgos fisiológicos y la variación espacial en el clima a lo largo de la altitud, las respuestas a la variación climática en las especies de anfibios tropicales fueron dependientes del contexto y heterogéneas. Junto con estudios recientes que muestran tolerancias térmicas de algunos anfibios tropicales comparables a los taxones de zonas templadas, nuestros hallazgos resaltan que varias respuestas a la variación climática en especies tropicales pueden no ajustarse a las predicciones hechas por el CVH u otras hipótesis importantes sobre la variación fisiológica. Esto refuerza la necesidad de superar el sesgo geográfico en los datos fisiológicos para mejorar las predicciones de los impactos del cambio climático en la biodiversidad.
Assuntos
Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Procedimentos Neurocirúrgicos/métodos , Neoplasias da Base do Crânio/cirurgia , Base do Crânio/cirurgia , Adulto , Idoso , Estudos de Coortes , Endoscopia , Feminino , Perda Auditiva/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Processo Mastoide , Pessoa de Meia-Idade , Neuroma Acústico/cirurgia , Estudos Retrospectivos , Base do Crânio/anatomia & histologia , Osso Temporal , Adulto JovemRESUMO
The objective of this study was to ascertain the effects of competitive noise on second language perception skills of sequentially bilingual children and to compare the results with those relating to matched monolingual peers. Fifteen bilingual immigrant children (aged 6-10 years) (BL) learning through their second language (L2), which was Italian, were matched with 15 peers who only spoke Italian (IO). All immigrant children had arrived in Italy and were exposed to L2 after their 4th year of life. The speech-to-noise ratio (SNR) needed to obtain 50% intelligibility - the speech reception threshold (SRT) - for Italian words was measured against the Italian version of ICRA noise, using an adaptive method. Moreover, presentation of phrases against a contralateral continuous discourse (informational masking) was carried out to exclude possible biases due to differences in memory, attention, or other central auditory processing disorders between groups. The SNR was -2.7 dB (SD 1.7; range: -5.5 to + 0.9) for the BL group and -5.3 dB (SD 2.3; range: -8.8 to -0.9) for the IO group (p < 0.01). With contralateral continuous discourse presentation the SNR were -32.8 dB (SD 2.4; range: -36.1 to -28.2) for the BL group and -27.8 dB (SD 2.1; range: -31.7 to -24.1) for the OI group (p < 0.01). Even sequential bilingual individuals exposed to L2 at 4 years old had worse speech perception in noise than their matched IO peers. On the other hand, the BL group demonstrated superior divided attention skills in tests with competitive contralateral discourse (p < 0.01).
Assuntos
Multilinguismo , Ruído , Percepção da Fala , Criança , Feminino , Humanos , MasculinoRESUMO
In the last 20 years, neonatal survival has progressively increased due to the constant amelioration of neonatal medical treatment and surgical techniques. Thus, the number of children with congenital malformations and severe chronic pathologies who need rehabilitative care has progressively increased. Rehabilitation programs for paediatric patients with disorders of voice, speech and language, communication and hearing, deglutition and breathing are not widely available in hospital settings or in long-term care facilities. In most countries, the number of physicians and technicians is still inadequate; moreover, multidisciplinary teams dedicated to paediatric patients are quite rare. The aim of the present study is to present some new trends in ENT paediatric rehabilitation.
Assuntos
Otorrinolaringopatias/reabilitação , Criança , Humanos , Reabilitação/tendênciasRESUMO
The aim of this paper is to assess the long-term audiological features and outcomes of hearing rehabilitation in a large group of individuals with CHARGE Syndrome. The study has been conducted retrospectively, on a paediatric patient database, at the Audiology Department of the University Hospitals of Ferrara and Padua. The study sample included 31 children presenting with different degrees of hearing impairment associated with CHARGE syndrome. Hearing was assessed using auditory brainstem responses (ABRs) and/or electrocochleography, or conditioned audiometry (visual reinforcement audiometry [VRA] or play audiometry). Auditory-perceptual outcomes in terms of communication skills and expressive language were also recorded. The effects of hearing rehabilitation (with hearing aids or cochlear implants) in this group of children and language outcomes after rehabilitation were monitored during long-term follow-up. The outcomes of rehabilitation measures differed in relation to the heterogeneous and often severe disabilities associated with CHARGE syndrome, e.g. developmental delay, intellectual delay, visual impairment, thin 8(th) nerve with retrocochlear auditory dysfunction (as described in cases of auditory neuropathy/dyssynchrony). Oral expressive language was severely impaired in most cases, even after lengthy follow-up, suggesting the need for alternative augmentative communication modes. The early identification of sensorineural hearing loss, and carefully planned rehabilitation treatments, can be of some benefit in children with CHARGE syndrome.
Assuntos
Síndrome CHARGE/reabilitação , Implantes Cocleares , Auxiliares de Audição , Perda Auditiva/reabilitação , Síndrome CHARGE/complicações , Feminino , Perda Auditiva/etiologia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
The aim of this study was to analyse audiometric and speech perception outcomes after cochlear implantation (CI) in adult and elderly patients in the first year post-CI activation. We evaluated 42 subjects who underwent CI at the Otorhinolaryngological Clinic of Padua Hospital. The subjects enrolled were post-lingually deafened patients who were unilaterally implanted for bilateral, severe-to-profound hearing loss. The overall sample was divided into three groups according to the age at the time of implantation: group A (35-49 years), group B (50-64 years) and group C (≥ 65 years). The subjects were assessed, both before and after surgery (at months 1, 3, 6 and 12), using pure tone audiometry, speech audiometry and speech perception tests and the CAP questionnaire. Statistical analysis of outcomes was using a Student's t-test for paired data. In all study groups a significant improvement was demonstrated in auditory performance examinations post-CI compared to the pre-operative scores. All subjects in all age groups obtained significant improvements in PTA scores before surgery and post-CI activation. Comparison of PTA values among the three age groups did not reveal any significant difference. Considerable improvement was obtained even in the speech audiometry thresholds in all groups at follow-up, with no significant differences between groups. The speech perception examination and CAP questionnaire showed good progress in all study groups, although younger patients tended to achieve more complex categories than older ones. In conclusion, CI is an effective treatment for severe-to-profound hearing loss with no significant differences in auditory performances between older and younger CI recipients. Even if somewhat slower, subjects older than 65 reached good performance and therefore are good candidates for a cochlear implant.
Assuntos
Audiometria de Tons Puros , Implante Coclear , Surdez/cirurgia , Percepção da Fala , Adulto , Idade de Início , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
The Veneto region's database of hospital discharge records was queried for ICD-9 codes corresponding to: peritonsillar abscess (PTA), PTA incision and drainage, tonsillectomy, pharyngeal-retropharyngeal abscess, cervical phlegmon, cervical abscess, and mediastinitis recorded from 1997 to 2006. All these codes were considered to identify cases of PTA recurrence and severe infectious complications occurring in conservatively treated patients. Among 4,199 patients whose PTA was incised and drained on admission to hospital, 1,532 were treated with tonsillectomy, while 2,667 were treated conservatively (without tonsillectomy). Abscess tonsillectomy was carried out almost exclusively in children (0-14 years of age), and only in 40 young and adult patients (0.95 %). The relapse rate after a single episode of PTA was 11.7 %, while potentially fatal complication occurred in 0.41 % of cases. Incidence of PTA hospital admission has remained stable in the considered period despite a 45 % reduction in the tonsillectomy rate. In conclusion, our data seem to show that conservative treatment for PTA is not associated with a significant risk of recurrence (and becomes minimal after 6-12 months), provided that patients have not suffered from previous PTA episodes.
Assuntos
Antibacterianos/uso terapêutico , Mediastinite , Abscesso Peritonsilar , Abscesso Retrofaríngeo , Tonsilectomia , Adulto , Idoso , Criança , Drenagem/efeitos adversos , Drenagem/métodos , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Incidência , Itália/epidemiologia , Masculino , Mediastinite/epidemiologia , Mediastinite/etiologia , Abscesso Peritonsilar/diagnóstico , Abscesso Peritonsilar/epidemiologia , Abscesso Peritonsilar/cirurgia , Prognóstico , Recidiva , Infecções Respiratórias/epidemiologia , Abscesso Retrofaríngeo/epidemiologia , Abscesso Retrofaríngeo/etiologia , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Tonsilectomia/efeitos adversos , Tonsilectomia/métodosRESUMO
INTRODUCTION: This study concerns a case series of 23 infants with a diagnosis of severe-to-profound hearing loss at 3 months old, who significantly improved (even reaching a normal auditory threshold) within their first year of life. METHODS: All infants were routinely followed up with audiological tests every 2 months after being fitted with hearing aids as necessary. A reliable consistency between the various test findings (DPOAE, ABR, behavioral responses, CAEP and ECoG) clearly emerged in most cases during the follow-up, albeit at different times after birth. RESULTS: The series of infants included 7 cases of severe prematurity, 6 of cerebral or complex syndromic malformations, 5 healthy infants, 2 with asymptomatic congenital CMV infection, and 1 case each of hyperbilirubinemia, hypoxia, and sepsis. All term-born infants showed a significant improvement over their initial hearing threshold by 6 months of age, while in most of those born prematurely the first signs of threshold amelioration occurred beyond 70 weeks of gestational age, and even beyond 85 weeks in one case. CONCLUSIONS: Cochlear implantation (CI) should only be considered after a period of auditory stimulation and follow-up with electrophysiological and behavioral tests, and an accurate analysis of their correlation. In our opinion, CI can be performed after a period of 8 months in all term-born infants with persistent severe-to-profound hearing loss without risk of diagnostic error, whereas the follow-up for severely preterm infants should extend to at least 80 weeks of gestational age.
Assuntos
Implante Coclear , Surdez/diagnóstico , Surdez/terapia , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/terapia , Seleção de Pacientes , Fatores Etários , Limiar Auditivo/fisiologia , Implantes Cocleares , Surdez/congênito , Feminino , Auxiliares de Audição , Testes Auditivos , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Reprodutibilidade dos TestesRESUMO
BACKGROUND AND PURPOSE: Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of the foramen ovale and inferior alveolar nerve canal in a cohort of oculo-auriculo-vertebral spectrum patients. MATERIALS AND METHODS: Twenty-nine patients with oculo-auriculo-vertebral spectrum (mean age, 7 years; age range, 0.2-31 years; 12 females) underwent brain MR imaging, CT, and neurologic evaluation; 19 patients had a more severe phenotype (Goldenhar syndrome). RESULTS: Cranial nerve abnormalities were detected only in patients with Goldenhar syndrome (17/19, bilaterally in 8) and were involved the second (4/19), third (1/18), fifth (11/19), sixth (8/16), seventh (11/18), and eighth (8/18) cranial nerves. Multiple cranial nerve abnormalities were common (11/17). Eleven patients showed bone foramina abnormalities. Trigeminal and facial nerve dysfunctions were common (44% and 58%, respectively), especially in patients with Goldenhar syndrome. Trigeminal abnormalities showed a good correlation with ipsilateral dysfunction (P = .018), which further increased when bone foramina abnormalities were included. The facial nerve showed a trend toward correlation with ipsilateral dysfunction (P = .081). Diplopia was found only in patients with Goldenhar syndrome and was associated with third and sixth cranial nerve abnormalities (P = .006). CONCLUSIONS: Among patients with oculo-auriculo-vertebral spectrum, cranial nerve morphologic abnormalities are common, correlate with phenotype severity, and often entail a functional impairment. The spectrum of cranial nerve abnormalities appears wider than simple hypo-/aplasia and includes an anomalous cisternal course and partial/complete fusion of diverse cranial nerves.
Assuntos
Nervos Cranianos/anormalidades , Síndrome de Goldenhar/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Fenótipo , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
The aim of this review is to summarise literature data on clinical aspects and traditional management of fungal malignant external otitis (FMEO), and to identify potential predictive factors of positive treatment outcome. Articles were initially selected based on their titles or abstracts. Full articles were then retrieved and further scrutinised according to predetermined criteria. Reference lists of selected articles were searched for any missed publications. The selected articles were methodologically evaluated. Of an initial 143 references, 14 were selected that focalised on the management of FMEO. The majority of studies demonstrated a correlation between treatment effectiveness, assessed as symptom resolution, and clinical and management variables: abstention from surgical debridement, absence of facial palsy, Aspergillus spp. as causative pathogen and absence of imaging findings at diagnosis and follow-up. The effectiveness of FMEO treatment depends on the assessment of cranial nerve state, the causative pathogen and imaging findings. Above all, absence of facial nerve palsy, Aspergillus spp. and absence of radiological signs at diagnosis and during follow-up correlate with symptom resolution. The fact that conservative treatment may be associated with a better outcome than surgical debridement could purely reflect that patients with more aggressive and advanced illness required debridement, whereas milder disease was treated conservatively. Thus, caution should be advised in the interpretation of data due to the need for further trials on the topic.
Assuntos
Micoses/tratamento farmacológico , Otite Externa/tratamento farmacológico , Desbridamento , Paralisia Facial , Humanos , Micoses/complicações , Micoses/microbiologia , Otite Externa/complicações , Otite Externa/microbiologia , Resultado do TratamentoRESUMO
The objective of our study was to review retrospectively the clinical, radiological and therapeutic findings in 62 adults with acute mastoiditis treated at the ENT Department of Ferrara from 1992 to 2010. 62 adult cases fulfilled the following inclusion criteria: otoscopical evidence of co-existent or recent otitis media; postauricular swelling, erythema or tenderness; protrusion of the auricle; fever and/or significant radiological findings of mastoiditis. Conservative treatment comprehended antibiotic ± ventilation tube. Surgical procedures comprehended mastoidectomy or mastoido-tympanoplasty. The incidence of adult's mastoiditis in our district (0.99 cases/year/100.000 inhabitants) has maintained quite stable during the considered 19-year period. The typical clinical presentation was observed in 48% of cases. Complications were meningitis (15 cases), meningo-encephalitis (1), meningitis associated with lateral sinus thrombosis (1), facial nerve paralysis (11), and labyrinthitis (8). In all cases except one, the facial palsy recovered completely and no mortality was observed due to these complications. Complete cure was obtained with conservative treatment in 69% of uncomplicated cases and in 24% of patients with intracranial complications. Mastoiditis in adults may present as the acute classical form, as well as latent forms which often have prolonged and insidious development followed by a rapid clinical deterioration. Clinical features are frequently atypical, while incidence of meningitis and other complications is still high particularly in the most elderly. Thus, great care is required from clinicians to make an early diagnosis in order to promote adequate treatment.
Assuntos
Mastoidite/diagnóstico , Centros Médicos Acadêmicos , Doença Aguda , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antibacterianos/uso terapêutico , Paralisia Facial/etiologia , Feminino , Seguimentos , Humanos , Itália , Labirintite/etiologia , Trombose do Seio Lateral/etiologia , Masculino , Processo Mastoide/cirurgia , Mastoidite/complicações , Mastoidite/terapia , Meningite/etiologia , Pessoa de Meia-Idade , Ventilação da Orelha Média , Otoscopia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Timpanoplastia , Adulto JovemRESUMO
The first child (proband) of nonconsanguineous Caucasian parents underwent genetic investigation because she was affected with congenital choanal atresia, heart defects and kidney hyposplasia with mild transient renal insufficiency. The direct DNA sequencing after PCR of the CHD7 gene, which is thought to be responsible for approximately 60-70% of the cases of CHARGE syndrome/association, found no mutations. The cytogenetic analysis (standard GTG banding karyotype) revealed the presence of extrachromosomal material on 10q. The chromosome analysis was completed with array CGH (30 kb resolution), MLPA and FISH, which allowed the identification of three 6p regions (6p.25.3p23 × 3): 2 of these regions are normally located on chromosome 6, and the third region is translocated to the long arm of chromosome 10. The same chromosomal rearrangement was subsequently found in the father, who was affected with congenital ptosis and progressive hearing loss, and in the proband's sister, the second child, who presented at birth with choanal atresia and congenital heart defects. The mutated karyotypes, which were directly inherited, are thought to be responsible for a variable phenotype, including craniofacial dysmorphisms, choanal atresia, congenital ptosis, sensorineural hearing loss, heart defects, developmental delay, and renal dysfunction. Nevertheless, to achieve a complete audiological assessment of the father, he underwent further investigation that revealed an increased level of the coagulation factor XIII (300% increased activity), fluctuating levels of fibrin D-dimer degradation products (from 296 to 1,587 ng/ml) and a homoplasmic mitochondrial DNA mutation: T961G in the MTRNR1 (12S rRNA) gene. He was made a candidate for cochlear implantation. Preoperative high-resolution computed tomography and magnetic resonance imaging of the temporal bone revealed the presence of an Arnold-Chiari malformation type I. To the best of our knowledge, this study is the second report on partial 6p trisomy that involves the 10q terminal region. Furthermore, we report the first case of documented Arnold-Chiari malformation type I and increased factor XIII activity associated with 6p trisomy. We present a comprehensive report of the familial cases and an exhaustive literature review.
Assuntos
Anormalidades Múltiplas/genética , Malformação de Arnold-Chiari/genética , Trissomia , Sequência de Bases , Atresia das Cóanas/genética , Cromossomos Humanos Par 6 , Análise Citogenética , Feminino , Cardiopatias Congênitas/genética , Humanos , Cariótipo , Masculino , Fenótipo , Insuficiência Renal/genética , Análise de Sequência de DNA , Translocação GenéticaRESUMO
A cochlear implant (CI) is a partially implanted electronic device that can help to provide a sense of sound and support speech to severely to profoundly hearing impaired patients. It is constituted by an external portion, that usually sits behind the ear and an internal portion surgically placed under the skin. The external components include a microphone connected to a speech processor that selects and arranges sounds pucked up by the microphone. This is connected to a transmitter coil, worn on the side of the head, which transmits data to an internal receiver coil placed under the skin. The received data are delivered to an array of electrodes that are surgically implanted within the cochlea. The primary neural targets of the electrodes are the spiral ganglion cells which innervate fibers of the auditory nerve. When the electrodes are activated by the signal, they send a current along the auditory nerve and auditory pathways to the auditory cortex. Children and adults who are profoundly or severely hearing impaired can be fitted with cochlear implants. According to the Food and Drug Administration, approximately 188,000 people worldwide have received implants. In Italy it is extimated that there are about 6-7000 implanted patients, with an average of 700 CI surgeries per year. Cochlear implantation, followed by intensive postimplantation speech therapy, can help young children to acquire speech, language, and social skills. Early implantation provides exposure to sounds that can be helpful during the critical period when children learn speech and language skills. In 2000, the Food and Drug Administration lowered the age of eligibility to 12 months for one type of CI. With regard to the results after cochlear implantation in relation to early implantation, better linguistic results are reported in children implanted before 12 months of life, even if no sufficient data exist regarding the relation between this advantage and the duration of implant use and how long this advantage persists in the subsequent years. With regard to cochlear implantation in children older than 12 months the studies show better hearing and linguistic results in children implanted at earlier ages. A sensitive period under 24-36 months has been identified over which cochlear implantation is reported to be less effective in terms of improvement in speech and hearing results. With regard to clinical effectiveness of bilateral cochlear implantation, greater benefits from bilateral implants compared to monolateral ones when assessing hearing in quiet and in noise and in sound localization abilities are reported to be present in both case of simultaneous or sequential bilateral implantation. However, with regard to the delay between the surgeries in sequential bilateral implantation, although benefit is reported to be present even after very long delays, on average long delays between surgeries seems to negatively affect the outcome with the second implant. With regard to benefits after cochlear implantation in children with multiple disabilities, benefits in terms of speech perception and communication as well as in quality of the daily life are reported even if benefits are slower and lower in comparison to those generally attained by implanted children without additional disabilities. Regarding the costs/efficacy ratio, the CI is expensive, in particular because of the cost of the high technological device, long life support, but even if healthcare costs are high, the savings in terms of indirect costs and quality of life are important. The CI, in fact, has a positive impact in terms of quality of life.
Assuntos
Implante Coclear/métodos , Perda Auditiva Bilateral/reabilitação , Qualidade de Vida , Criança , Implante Coclear/economia , Implantes Cocleares/economia , Análise Custo-Benefício , Perda Auditiva Bilateral/economia , Humanos , Localização de Som , Inteligibilidade da Fala , Percepção da Fala , Resultado do TratamentoRESUMO
Malignant external otitis (MEO) is a rare infection of the temporal bone primarily affecting elderly patients and diabetics or immunocompromised individuals, which may have dismal prognosis if treatment is not prompt and adequate. Almost 95% of MEO cases reported in the literature are attributed to Pseudomonas aeruginosa, and this pathogen is isolated from aural drainage in > 90% of cases. However, in recent years fungal and polymicrobial temporal bone infections have been reported with increasing frequency. The aim of this paper is to discuss a possible pitfall in MEO treatment using an unusual clinical case. In this patient, bacteriological data positive for Pseudomonas delayed correct diagnosis of Aspergillus infection, which was obtained after surgical debridement and biopsy of the infra-temporal space.
Assuntos
Aspergilose , Otite Externa/microbiologia , Infecções por Pseudomonas , Idoso , Aspergilose/diagnóstico , Aspergilose/terapia , Humanos , Masculino , Otite Externa/diagnóstico , Otite Externa/terapia , Infecções por Pseudomonas/diagnóstico , Infecções por Pseudomonas/terapia , Fatores de Risco , Falha de TratamentoRESUMO
Our objective is to determine the complication rate in a population of infants, children, adolescents and adults, from a University Hospital Cochlear Implant program and to discuss their causes and treatments. The methods include a retrospective study of 438 consecutive patients in a tertiary referral centre, the Audiology Department of the University Hospital of Ferrara. All patients receiving cochlear implants, between 1 January 2003 and 31 December 2009, have been included. All complications and treatments were systematically reviewed with an average duration of follow-up of 46 months (range 10-84 months). The results reveal that the overall rate of complications in our group was 9.1% (40 of 438), and most of them were minor. Wound swelling and infections represent the most common complication occurred. There were no cases of transient or permanent facial palsy following surgery, and also we did not register any case of postsurgical meningitis. Thirteen patients (3.0%) underwent explantation followed by reimplantation. In conclusion, we find that Cochlear implantation is a safe low-morbility technique with a relatively low complication rate in the presented population.
Assuntos
Implantes Cocleares/efeitos adversos , Perda Auditiva/cirurgia , Infecções Relacionadas à Prótese/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Incidência , Lactente , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Infecções Relacionadas à Prótese/diagnóstico , Infecções Relacionadas à Prótese/terapia , Reoperação , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Adulto JovemRESUMO
BACKGROUND: It is common in clinical practice to administer systemic steroids to treat sensorineural hearing loss due to bullous myringitis (BM). Nonetheless, there is currently no definitive evidence that steroid therapy is effective and appropriate for BM. OBJECTIVE: The aim of this study was to assess the effectiveness of systemic steroid therapy for treating BM. PATIENTS AND METHODS: This prospective study included 23 patients affected by BM with sensorineural hearing loss (median age, 45.8 years). The subjects were divided into two groups: Group A received only systemic antibiotic treatment and Group B received systemic antibiotics plus systemic steroid treatment. RESULTS AND CONCLUSIONS: There were no differences between the groups in terms of the sensorineural hearing loss recovery. Both treatments were effective, suggesting that administration of oral steroids in combination with antibiotics did not confer an advantage in terms of sensorineural hearing loss recovery rate in the tested population.
Assuntos
Glucocorticoides/administração & dosagem , Perda Auditiva Neurossensorial/tratamento farmacológico , Otite Média/complicações , Administração Oral , Adolescente , Adulto , Idoso , Antibacterianos/administração & dosagem , Audiometria , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Seguimentos , Audição/fisiologia , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Pessoa de Meia-Idade , Otite Média/fisiopatologia , Estudos Prospectivos , Resultado do Tratamento , Membrana Timpânica/patologia , Adulto JovemRESUMO
OBJECTIVE: To describe the effect of age and noise on high frequency hearing thresholds in an Italian population aged 70 years and older, in order to investigate the interaction between presbycusis and noise exposure. METHODS: We compared 460 subjects: 367 affected by presbycusis alone (204 women and 163 men) and 93 affected by presbycusis and noise exposure (eight women and 85 men). Pure tone average hearing thresholds, for each ear, were compared between groups, and between sexes and ages within groups. RESULTS: A slight threshold difference was found between the two groups at 4 kHz. After adjusting for age and gender, this difference was found to be related only to differing patient age. Men's and women's thresholds differed significantly in both groups, especially at high frequencies, at which threshold deterioration was worse in men than women. CONCLUSION: The threshold differences between patients with presbycusis with and without noise exposure were limited. Larger studies are needed to assess the relative effects of ageing and noise exposure on hearing thresholds.
Assuntos
Perda Auditiva de Alta Frequência/epidemiologia , Perda Auditiva Neurossensorial/epidemiologia , Ruído/efeitos adversos , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/fisiologia , Análise de Variância , Audiometria de Tons Puros , Limiar Auditivo/fisiologia , Condução Óssea/fisiologia , Feminino , Perda Auditiva de Alta Frequência/etiologia , Perda Auditiva Neurossensorial/etiologia , Humanos , Itália/epidemiologia , Masculino , Ruído Ocupacional/efeitos adversos , Ruído Ocupacional/estatística & dados numéricos , Exposição Ocupacional/efeitos adversos , Exposição Ocupacional/estatística & dados numéricos , Distribuição por Sexo , Estatísticas não ParamétricasAssuntos
Antibacterianos/uso terapêutico , Mastoidite/tratamento farmacológico , Mastoidite/epidemiologia , Doença Aguda , Adolescente , Distribuição por Idade , Criança , Pré-Escolar , Hospitais Universitários , Humanos , Incidência , Lactente , Itália/epidemiologia , Mastoidite/diagnóstico , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Resultado do TratamentoRESUMO
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.