Home About us Contact
|
Home About us Contact | ||
|
|
||
Hearing Impairment (hearing + impairment)
Selected AbstractsCombined hearing and visual impairment and depression in a population aged 75 years and olderINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 9 2002Taina Lupsakko Abstract Background Depression is associated with both visual and hearing impairment. Little is known about the relationship between combined hearing and visual impairment and mood in this age group. The aim of this population-based study was to investigate the association between functional sensory impairment, especially combined sensory impairment and depressive symptoms and depression diagnosed according to the DSM-IV criteria. Method The study group consisted of 470 adults, population-based sample, aged 75 years or older. We used the Snellen eye charts with E-letters and reading charts to evaluate the functional visual acuity. The ability to conduct a face-to-face conversation, the hearing aid use and the self-reported hearing problems were used to assess the functional hearing acuity. Depression was identified with two different methods. A geriatrician interviewed the subjects and the DSM-IV checklist was used to determine whether they met the criteria for major depression. The Zung Depression Status Inventory (DSI) was used to identify depressive symptoms. The cut off points of 40/80 and 48/80 in the DSI-score was used. Results Seventy-two persons (15%) of the study population had depression diagnosed according to the DSM-IV criteria. Twelve per cent of subjects in the Functional Hearing Impairment (FHI) group, twenty per cent in the Functional Visual Impairment (FVI) group, eighteen per cent in the Combined Sensory Impairment (CSI) group and fifteen per cent in the Adequate Sensory Function (ASF) group suffered major depression. The differences between these groups were insignificant. The occurrence rates of the DSI score equal or over 40 points was 50% in the FHI group, 53% in the FVI group, 70% in the CSI group and 45% in the ASF group. The difference between the ASF group and sensory impairment group including FHI, FVI and CSI groups was statistically significant (p,=,0.03). Conclusions Depressive symptoms, but not major depression, were common if elderly persons had combined sensory impairment. Copyright © 2002 John Wiley & Sons, Ltd. [source] Speech adaptation after treatment of full edentulism through immediate-loaded implant protocolsCLINICAL ORAL IMPLANTS RESEARCH, Issue 1 2008Liene Molly Abstract Objectives: The objective of the present study was to evaluate the influence of immediate loading of implants on speech adaptation. Material and methods: Ten patients (mean age 54, 6 females) were examined before surgery and 1, 3, 6 and 12 months afterwards. Articulation analysis was done using objective DAT-recoded data evaluated by two groups of speech and language therapists and a computer software program. Besides, patient VAS-scores, myofunctional problems and hearing impairment were recorded and analysed. Results: In the present study only one patient suffered from deteriorated speech after immediate loading. Other patients showed unaffected or improved articulation 3 to 6 months after surgery with a strident and interdental pronunciation mostly becoming addental. Furthermore, myofunctional problems occurred in one patient, other patients adapted to the new situation after three months. Hearing impairment did not influence speech pathology in this study. Conclusion: Immediate loading of oral implants does not seem to compromise the normal 3,6 months speech adaptation period. Whether such procedure presents advantages to the conventional 2-stage rehabilitation remains to be investigated. [source] Families and children with hearing loss: Grief and copingDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 4 2003Ellen Kurtzer-White Abstract Parental coping with the diagnosis of their child's hearing impairment has not received a great deal of research attention, despite the evident importance of it. Parental coping has been changing with the inception of newborn screening as we move from a parent-initiated model of diagnosis to an institution-initiated model. Coping now begins without any preparation, and without any time for parents to "enjoy" their child as "normal." The grief models, based on the death experience, usually employed to describe parental reactions to the diagnosis may also be inappropriate. Death grief is terminable whereas parental grief is chronic. There is not sufficient research on the long-term effects of chronic grief and how that impacts on parent-child bonding. There is evidence that our screening endeavors have far outstripped our habilitation efforts, leaving parents with a diagnosis but without support. This gap must be closed. MRDD Research Reviews 2003;9:232,235. © 2003 Wiley-Liss, Inc. [source] Disruption of fibroblast growth factor receptor 3 signaling results in defects in cellular differentiation, neuronal patterning, and hearing impairment,DEVELOPMENTAL DYNAMICS, Issue 7 2007Chandrakala Puligilla Abstract Deletion of fibroblast growth factor receptor 3 (Fgfr3) leads to hearing impairment in mice due to defects in the development of the organ of Corti, the sensory epithelium of the Cochlea. To examine the role of FGFR3 in auditory development, cochleae from Fgfr3,/, mice were examined using anatomical and physiological methods. Deletion of Fgfr3 leads to the absence of inner pillar cells and an increase in other cell types, suggesting that FGFR3 regulates cell fate. Defects in outer hair cell differentiation were also observed and probably represent the primary basis for hearing loss. Furthermore, innervation defects were detected consistent with changes in the fiber guidance properties of pillar cells. To elucidate the mechanisms underlying the effects of FGFR3, we examined the expression of Bmp4, a known target. Bmp4 was increased in Fgfr3,/, cochleae, and exogenous application of bone morphogenetic protein 4 (BMP4) onto cochlear explants induced a significant increase in the outer hair cells, suggesting the Fgf and Bmp signaling act in concert to pattern the cochlea. Developmental Dynamics 236:1905,1917, 2007. Published 2007 Wiley-Liss, Inc. [source] Hearing loss in Fabry disease: data from the Fabry Outcome SurveyEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 9 2006S. Hegemann Abstract Background, Hearing loss is a common symptom in Fabry disease, but neither its natural course nor its aetiology has been defined precisely. The aim of this study was to provide a detailed epidemiological description of hearing impairment in patients in the Fabry Outcome Survey (FOS), which is the largest available database of Fabry patients. Materials and methods, Questionnaires were completed by 566 Fabry patients, of whom 316 reported ear-related symptoms. Pure-tone audiograms from 86 patients, performed before starting enzyme replacement therapy, were analysed and compared with age- and sex-specific normal values (International Organization for Standardization, ISO 7029). Results, When compared to an age-matched population (ISO 7029), 74% of patients had a threshold elevated above the 95th centile in at least one tested frequency. All frequencies were affected to a similar degree. However, only 14 patients (16%) were clinically affected by hearing impairment according to the age-independent World Health Organization (WHO) classification (mean threshold at 0·5, 1 and 2 kHz worse than 25 dB). Hearing loss was sensorineural in 63 patients (73%) of whom 7 patients (8%) had also a conductive component. One patient had a purely conductive hearing loss. Episodes of sudden hearing loss seemed to occur more frequently than in the general population. Men were affected earlier and more severely than women. Conclusions, Hearing in Fabry disease is significantly worse than in an age-matched general population but leads to clinically relevant hearing impairment in only 16% of cases. It resembles accelerated presbycusis with an additional Fabry-specific strial-type hearing loss. [source] Horizontal canal benign paroxysmal positioning vertigo with ipsilateral hearing lossEUROPEAN JOURNAL OF NEUROLOGY, Issue 1 2004H. Rambold The etiology of benign paroxysmal positioning vertigo (h-BPPV) of the horizontal semicircular is unknown. Insight was obtained from two patients with h-BPPV and associated hearing impairment. Based on the different inner ear lesion patterns in neurolabyrinthitis contrary to ischemic labyrinthine infarction we assessed multiple vestibulo-cochlear functions for the first time in two patients who suffered from h-BPPV with sudden unilateral hearing loss. While in patient no. 1 the lesion pattern (posterior canal paresis in addition to the sudden hearing loss) could possibly be caused by ischemia of the common cochlear artery, the lesion pattern of patient no. 2 (hearing loss and ipsilateral paresis of the posterior and horizontal semicircular canal) exceeds the typical vascular labyrinthine territories and may indicate viral neurolabyrinthitis. [source] Self-reported functional ability predicts three-year mobility and mortality in community-dwelling older personsGERIATRICS & GERONTOLOGY INTERNATIONAL, Issue 2 2002Ryuichi Kawamoto Background:, A comprehensive evaluation of the functions of community-dwelling older persons was conducted in 1988. Three years after the 1988 study commenced, the relationship between these background factors and changes during the subsequent 3 years were examined. Methods: ,The study was a comprehensive evaluation of the daily functions of community-dwelling elderly people, and encompassed age, gender, mode of living, marital status, financial status, family relationships, basic activities of daily living, visual and hearing impairment, a history of disease, self-related feeling, social role, social support, habits and physical exercise and the relationship between independence and survival for 3 years after the basic study. The subjects were 2274 community-dwelling elderly people who participated in the first survey in July 1998 and who were aged 65 years and over at that time. Unassisted questionnaire sheets were used for the first survey and changes since the first survey. Results:, Thirty men and 60 women died during the 3 year period. Data were also gathered about the daily activity levels of 1709 persons (75.2%) with 1499 (87.7%) ranking J for independence and 210 persons (12.3%) ranking A to C for dependence. Age, gender, basic activities of daily living (BADL), history of falls, self-related happiness, participation in community events and physical-exercise habits were found to be explanatory variables for independence after three years; as were age, gender, and BADL for survival. Conclusion: , The explanatory variables relating to independence and prognosis of life of the elderly obtained in this study will be important in future considerations of the issue of care-taking and measures to enable it. [source] Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation,HEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 7 2002Hajime Ishinaga MD Abstract Background Pendred's syndrome (PS) is an autosomal recessive disorder characterized by goiter and congenital sensorineural hearing loss. Recent advances in molecular biology revealed the gene responsible for PS (PDS) and provided an important aid for the diagnosis of this condition. Methods A case of PS with huge goiter and congenital hearing impairment was diagnosed by mutational analysis of the PDS gene. Results Physical examination and computer tomography CT revealed a diffuse swelling of the thyroid gland. Thyroid function tests were normal, and the perchlorate discharge test was negative. Audiologic examination confirmed sensorineural hearing loss, and temporal bone CT revealed bilateral enlarged vestibular aqueducts. The mutational analysis revealed that the patient was homozygous for His 723 Arg (2168A,G) in exon 19, a missense mutation. Conclusions The results of thyroid function tests in PS patients are usually normal, and the positive perchlorate discharge test has been used for the diagnosis. However, this is a nonspecific test and is not sensitive enough for PS. In our case, despite a negative perchlorate test, the patient was diagnosed by mutational analysis and received total thyroidectomy to relieve respiratory distress caused by thyroid enlargement. This is the first report of a mutation detected in the thyroid tissue and clearly shows that the mutation caused histopathologic change in that gland. © 2002 Wiley Periodicals, Inc. [source] Estimating production costs in the economic evaluation of health-care programsHEALTH ECONOMICS, Issue 1 2009Carmen Herrero Abstract We propose a method for calculating the production costs of an intervention in a manner that accounts for differences in productive ,effort.' This method could be used within a cost-effectiveness analysis framework in the evaluation of new medical technologies, pharmaceuticals, treatment programs, or public health interventions. We apply it to show evidence in favor of implementing a newborn screening program to detect congenital hearing impairment. Copyright © 2008 John Wiley & Sons, Ltd. [source] A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy,HUMAN MUTATION, Issue 6 2008Montserrat Rodríguez-Ballesteros Abstract Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been identified to date. One of these, OTOF, encodes otoferlin, a membrane-anchored calcium-binding protein that plays a role in the exocytosis of synaptic vesicles at the auditory inner hair cell ribbon synapse. We have investigated the prevalence and spectrum of deafness-causing mutations in the OTOF gene. Cohorts of 708 Spanish, 83 Colombian, and 30 Argentinean unrelated subjects with autosomal recessive NSHI were screened for the common p.Gln829X mutation. In compound heterozygotes, the second mutant allele was identified by DNA sequencing. In total, 23 Spanish, two Colombian and two Argentinean subjects were shown to carry two mutant alleles of OTOF. Of these, one Colombian and 13 Spanish subjects presented with auditory neuropathy. In addition, a cohort of 20 unrelated subjects with a diagnosis of auditory neuropathy, from several countries, was screened for mutations in OTOF by DNA sequencing. A total of 11 of these subjects were shown to carry two mutant alleles of OTOF. In total, 18 pathogenic and four neutral novel alleles of the OTOF gene were identified. Haplotype analysis for markers close to OTOF suggests a common founder for the novel c.2905_2923delinsCTCCGAGCGCA mutation, frequently found in Argentina. Our results confirm that mutation of the OTOF gene correlates with a phenotype of prelingual, profound NSHI, and indicate that OTOF mutations are a major cause of inherited auditory neuropathy. Hum Mutat 29(6), 823,831, 2008. © 2008 Wiley-Liss, Inc. [source] USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II,,HUMAN MUTATION, Issue 2 2004Ronald J.E. Pennings Abstract Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis of USH2A was performed in 70 Dutch USH2 families. Ten mutations in USH2A were detected, of which three are novel, c.949C>A, c.2242C>T (p.Gln748X) and c.4405C>T (p.Gln1468X). Including 9 previously published Dutch USH2a families, estimates of the prevalence of USH2a in the Dutch USH2 population were made. Mutations were identified in 62% of the families. In 28% both mutated alleles were identified, whereas in 34% the mutation in only one allele was found. It is estimated that about 28% of the Dutch USH2 families have a different causative gene. Analysis of deduced haplotypes suggests that c.1256G>T (p.Cys419Phe) is a Dutch ancestral mutation, occurring in 16% of the alleles. © 2004 Wiley-Liss, Inc. [source] A rare connexin 26 mutation in a patient with a forme fruste of keratitis,ichthyosis,deafness (KID) syndromeINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 10 2009Ching Yin Neoh MBBS, MMed(Int Med) Background, Keratitis,ichthyosis,deafness (KID) syndrome is a rare ectodermal dysplasia characterized by generalized erythrokeratotic plaques, sensorineural hearing loss, and vascularizing keratitis. Cutaneous changes and hearing loss typically present in early childhood, whereas ocular symptoms present later. Mutations in the connexin (Cx) 26 gene, GJB2, are now established to underlie many of the affected cases, with the majority of patients harboring the p.D50N mutation. Methods, A rare patient demonstrating features of incomplete KID syndrome associated with an uncommon Cx26 gene mutation is described. Results, The patient presented late in adolescence with partial features of KID syndrome. There was limited cutaneous involvement and the rare association of cystic acne. Both hearing impairment and ophthalmic involvement were mild in severity. Genetic mutation analysis revealed a previously described, rare mutation in GJB2, resulting in a glycine to arginine change at codon 12 (p.G12R). Conclusions, This report describes a patient exhibiting characteristics suggestive of a late-onset, incomplete form of KID syndrome with the GJB2 mutation (p.G12R). The p.G12R mutation has only been described in one other patient with KID syndrome, whose clinical presentation was not characterized. [source] Validation of the modified telephone interview for cognitive status (TICS-m) in HebrewINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 5 2003Michal Schnaider Beeri Abstract Introduction The validity of the Hebrew version of the Telephone Interview for Cognitive Status-Modified (TICS-m) for Mild Cognitive Impairment (MCI), for dementia, and for cognitive impairment (either MCI or dementia) was investigated. Methods Of the 10,059 who took part of the Israel Ischemic Heart Disease Cohort, 1902 of the 2901 survivors in 1999 had TICS-m interviews. Those with a score of 27 or below and a random sample with a score of 28 or 29 were invited to have a physician's examination for the diagnosis of dementia. The analysis was performed on the 576 who agreed. Results Based on physician's diagnosis, 269 were diagnosed as suffering from dementia, 128 as suffering from MCI, and 179 were diagnosed with no cognitive impairment. The TICS-m Hebrew version's internal consistency was very high (Cronbach's alpha,=,0.98) and showed a strong convergent validity with the MMSE (r,=,0.82; p,<,0.0005). The sensitivity was 100% for each of the conditions. Finally, after controlling for age, education and hearing impairment, TICS-m was a strong predictor of dementia, MCI and cognitive impairment. Conclusion At a cut-off of 27/50 the Hebrew version of the TICS-m is a useful screening instrument to identify subjects suffering from mild cognitive impairment, dementia and cognitive impairment (MCI or dementia). Copyright © 2003 John Wiley & Sons, Ltd. [source] Combined hearing and visual impairment and depression in a population aged 75 years and olderINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 9 2002Taina Lupsakko Abstract Background Depression is associated with both visual and hearing impairment. Little is known about the relationship between combined hearing and visual impairment and mood in this age group. The aim of this population-based study was to investigate the association between functional sensory impairment, especially combined sensory impairment and depressive symptoms and depression diagnosed according to the DSM-IV criteria. Method The study group consisted of 470 adults, population-based sample, aged 75 years or older. We used the Snellen eye charts with E-letters and reading charts to evaluate the functional visual acuity. The ability to conduct a face-to-face conversation, the hearing aid use and the self-reported hearing problems were used to assess the functional hearing acuity. Depression was identified with two different methods. A geriatrician interviewed the subjects and the DSM-IV checklist was used to determine whether they met the criteria for major depression. The Zung Depression Status Inventory (DSI) was used to identify depressive symptoms. The cut off points of 40/80 and 48/80 in the DSI-score was used. Results Seventy-two persons (15%) of the study population had depression diagnosed according to the DSM-IV criteria. Twelve per cent of subjects in the Functional Hearing Impairment (FHI) group, twenty per cent in the Functional Visual Impairment (FVI) group, eighteen per cent in the Combined Sensory Impairment (CSI) group and fifteen per cent in the Adequate Sensory Function (ASF) group suffered major depression. The differences between these groups were insignificant. The occurrence rates of the DSI score equal or over 40 points was 50% in the FHI group, 53% in the FVI group, 70% in the CSI group and 45% in the ASF group. The difference between the ASF group and sensory impairment group including FHI, FVI and CSI groups was statistically significant (p,=,0.03). Conclusions Depressive symptoms, but not major depression, were common if elderly persons had combined sensory impairment. Copyright © 2002 John Wiley & Sons, Ltd. [source] Hearing Impairment Affects Older People's Ability to Drive in the Presence of DistractersJOURNAL OF AMERICAN GERIATRICS SOCIETY, Issue 6 2010Louise Hickson PhD OBJECTIVES: To investigate the effects of hearing impairment and distractibility on older people's driving ability, assessed under real-world conditions. DESIGN: Experimental cross-sectional study. SETTING: University laboratory setting and an on-road driving test. PARTICIPANTS: One hundred seven community-living adults aged 62 to 88. Fifty-five percent had normal hearing, 26% had a mild hearing impairment, and 19% had a moderate or greater impairment. MEASUREMENTS: Hearing was assessed using objective impairment measures (pure-tone audiometry, speech perception testing) and a self-report measure (Hearing Handicap Inventory for the Elderly). Driving was assessed on a closed road circuit under three conditions: no distracters, auditory distracters, and visual distracters. RESULTS: There was a significant interaction between hearing impairment and distracters, such that people with moderate to severe hearing impairment had significantly poorer driving performance in the presence of distracters than those with normal or mild hearing impairment. CONCLUSION: Older adults with poor hearing have greater difficulty with driving in the presence of distracters than older adults with good hearing. [source] Combined functional visual and hearing impairment in a population aged 75 and older in Finland and its influence on activities of daily livingJOURNAL OF AMERICAN GERIATRICS SOCIETY, Issue 10 2002Taina A. Lupsakko MD No abstract is available for this article. [source] Phenotypic Characterization of Early Onset Paget's Disease of Bone Caused by a 27-bp Duplication in the TNFRSF11A Gene,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 8 2003Kiyoshi Nakatsuka Abstract Three different insertion mutations in the TNFRSF11A gene affecting the signal peptide of RANK have been described. An 18-bp duplication at position 84 (84dup18) is associated with the clinical syndrome of familial expansile osteolysis (FEO), whereas a 15-bp duplication at the same site (84dup15) causes the syndrome of expansile skeletal hyperphosphatasia (ESH). Here we report the phenotype of patients harboring a 27-bp duplication at position 75 (75dup27) in RANK. Affected individuals had hearing impairment and tooth loss beginning in the second or third decade. Radiographs of affected bones showed lytic and sclerotic lesions with bony enlargement and deformity. Serum alkaline phosphatase levels were elevated between 2 and 17 times above the normal range. Most patients had pelvic and skull involvement, and all had involvement of the mandible and maxilla. Most patients also had bony enlargement of the small joints of the hands, and one developed hypercalcemia during a period of immobilization. We conclude that the 75dup27 mutation of RANK causes a Paget's disease of bone-like phenotype that is distinct from, but which overlaps with, FEO and ESH. A particularly striking feature was involvement of the mandible and maxilla, but it remains to be seen if this is a specific feature of the 75dup27 mutation until further kindreds with this mutation are reported. [source] Obstacles in large-scale epidemiological assessment of sensory impairments in a Dutch population with intellectual disabilitiesJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 8 2004H. Evenhuis Abstract Background A population-based epidemiological study on visual and hearing impairment was planned in a random sample of 2100 clients, drawn from a base population of 9012 users of Dutch residential and day-care intellectual disability (ID) services with the whole range of IDs. Stratification was applied for age 50 years and over and Down syndrome. Visual and hearing functions were assessed according to a standardized protocol, in cooperation with regular ophthalmologists and regional audiological centres. Anticipated obstacles in sample collection, random inclusion, informed consent, expertise of investigators, time and costs were eliminated by a careful preparation. However, inclusion and participation were incomplete. Method In a descriptive retrospective design, we collected data from our study files on inclusion and participation as well as reasons for non-participation, to identify unanticipated obstacles for this kind of research. Results Consent was obtained for 1660 clients, and 1598 clients participated in the data collection (76% of intended sample of 2100). Inclusion and participation rates were especially lower in community-based care organizations, resulting in unintentional skewing of the sample towards more severe levels of ID. Complete and reliable data to diagnose visual impairment were obtained for 1358/1598 (85%) and to diagnose hearing impairment for 1237/1598 participants (77%). Unanticipated obstacles had to do with the quality of coordination within care organizations, with characteristics of screening methods, and with collaboration with the regular health care system. Assessments of visual function were more easy to organize than were those of hearing. Based on our current experience, practical recommendations are given for future multicentre research, especially in community-based settings. [source] Sensory impairments, intellectual disability and psychiatryJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 6 2001S. Carvill Abstract The present review looks at: (1) prevalence studies of sensory impairments in people with intellectual disability (ID); (2) studies looking at psychological and psychiatric disorders in people with sensory impairments; and (3) studies that have examined the association of sensory impairments with autism. Research has indicated that sensory impairments are more common in people with ID. Psychiatric disorders are believed to be more common in children with visual impairment (VI) when associated with other handicaps. Some authors believe that hearing impairment (HI) can result in personality disorders. Studies have also shown a higher prevalence of psychiatric disorders in children with HI and a higher incidence of deaf people in psychiatric hospitals than in the general population. Psychiatric disorders in children with HI are particularly associated with low IQ and low communication ability, especially in those with multiple handicaps. There is little evidence for a higher incidence of schizophrenia in people with HI. Blind people demonstrate many autistic-like features and there has been discussion in the literature as to their cause. Deaf people also demonstrate some similar features to those in autism, but an association with autism has not been conclusively made. Deaf-blind people commonly demonstrate problem behaviour (e.g. self-injury). Usher syndrome, which is the most common cause of deaf-blindness, is associated with psychiatric disorders, particularly psychosis. The need for assessment of sensory functioning in people with ID, the difficulties inherent in this and the need for specialist services is stressed. [source] Hearing loss in chronic myeloid leukemiaPEDIATRIC BLOOD & CANCER, Issue 1 2005Rahul Naithani MBBS Abstract A 12-year-old girl presented with abdominal pain, fever, and hearing impairment of 6 months duration. She had massive hepatosplenomegaly and anemia. On the basis of her peripheral blood and bone marrow findings, she was diagnosed as chronic myeloid leukemia (CML) in chronic phase. Her hearing was assessed by brainstem evoked responses (BERA), which showed objective improvement in hearing with hydroxyurea. The rare occurrence of deafness in CML is reviewed and possible pathogenesis is discussed. Pediatr Blood Cancer 2005; 45: 54,56. © 2005 Wiley-Liss, Inc. [source] Endothelin-1 gene polymorphism and hearing impairment in elderly JapaneseTHE LARYNGOSCOPE, Issue 5 2009Yasue Uchida MD Abstract Objectives/Hypothesis: To investigate the association between the Lys198Asn (G/T) polymorphism (rs5370) in the endothelin-1 gene (EDN1) and hearing impairment in middle-aged and elderly Japanese. Study Design: Longitudinal study. Methods: Data were collected from community-dwelling Japanese adults who participated in the Longitudinal Study of Aging biennially between 1997 and 2006. The participants at baseline were 2,231 adults aged 40 years to 79 years. An average hearing threshold level of 25 dB or better in the better ear for frequencies 500 Hz, 1,000 Hz, 2,000 Hz, and 4,000 Hz was defined as no hearing impairment. Using generalized estimating equations to treat repeated observations within subjects, 7,097 cumulative data were analyzed to assess the association between hearing status and the EDN1 G/T polymorphism with adjustment for age, sex, histories of ear disease, occupational noise exposure, heart disease, hypertension, and body mass index under additive, dominant, and recessive genetic models. Results: Comparison with wild-type homozygotes (GG), heterozygotes, and mutant homozygotes (GT/TT) showed a positive association with hearing impairment after adjustment for age in model 1 (odds ratio [OR] = 1.24; 95% confidence interval [CI] = 1.02,1.50; P = .033), for age and sex in model 2 (OR = 1.29; CI = 1.06,1.57; P = .0122), and for age, sex, history of ear disease, and history of occupational noise exposure in model 3 (OR = 1.31; CI = 1.07,1.60; P = .0092). The association was also significant in model 3 under the additive model. Conclusions: This study demonstrated that mutant T-allele carriers were associated with a higher risk of hearing impairment than carriers of wild-type homozygotes in middle-aged and elderly people. This result implies that endothelin-1 plays a valuable role in the cochlea. Laryngoscope, 2009 [source] Evidence for surviving outer hair cell function in congenitally deaf ears,THE LARYNGOSCOPE, Issue 11 2003FRCS (London), FRCS (ORL-HNS), Peter A. Rea MA Abstract Objective/Hypothesis: The hypotheses of the study were that congenital hearing impairment in infants can result from the isolated loss of inner hair cells of the cochlea and that this is shown by the presence of abnormal positive summating potentials on round window electrocochleography. The objectives were to establish the proportion of infants with hearing loss affected, the nature of the cochlear lesion, and its etiology. And to highlight the important implications for otoacoustic emissions testing and universal neonatal screening. Study Design: A prospectively conducted consecutive cohort study with supplemental review of notes was performed. Methods: Four hundred sixty-four children underwent round window electrocochleography and auditory brainstem response testing under general anesthesia to assess suspected hearing loss. The presence of abnormal positive potentials was recorded. Otoacoustic emissions data were collected separately and retrospectively. Results: Three hundred forty-two children had significant bilateral congenital hearing loss. All results were from hearing-impaired children. Abnormal positive potentials were recorded in 73 of 342 children (21%). Eighty-three percent of children with otoacoustic emissions also had abnormal positive potentials, but only 14% of children without otoacoustic emissions had abnormal positive potentials (P < .001). In the neonatal intensive care unit setting, 43% of infants were found to have abnormal positive potentials, whereas only 10% had abnormal positive potentials if not in the neonatal intensive care unit setting (P < .001). Abnormal positive potentials were present in 63% of infants born before 30 weeks gestation and in 14% of infants born at term (P < .001). Abnormal positive potentials were identified in 57% of infants with documented hypoxia and 11% of children with no episodes (P < .001). Otoacoustic emissions were present in 48% of infants from the neonatal intensive care unit, despite their hearing loss. Conclusion: Both otoacoustic emissions and abnormal positive potentials may originate from outer hair cell activity following inner hair cell loss. This may occur in more than 40% of hearing-impaired children in the neonatal intensive care unit setting. Chronic hypoxia is the most likely cause. Otoacoustic emissions testing may not be a suitable screening tool for such infants. [source] Progressive Sensorineural Hearing Loss in Children With Mitochondrial Encephalomyopathies,THE LARYNGOSCOPE, Issue 3 2001Priv. Doz. Abstract Objective Mitochondrial disorders are responsible for a variety of neurological syndromes. Specific mitochondrial DNA mutations have been identified recently in some of these rare disorders. Clinical symptoms may occur in different organs to various extent; often they are associated with progressive hearing loss. The aims of this study were to determine incidence, onset, and characteristics of hearing loss in children with mitochondrial encephalomyopathies and to investigate a possible correlation between the degree of hearing loss and neurological symptoms. In addition, we investigated the prognostic value of hearing loss as a predictor of the disease. Study Design From August 1992 to September 1998, 29 patients ranging in age from 5 to 23 years (mean years) were studied. These children were hospitalized for diagnostic purposes in the neuropediatric department. Methods The mitochondrial disorder was diagnosed by clinical and laboratory testings, including analysis of the mtDNA. Audiological evaluation consisted of measurements of pure-tone and speech audiometry, tympanometry, and acoustic refle- threshold testing, auditory brainstem response, and evoked as well as distortion-product otoacoustic emissions. Results A sensorineural hearing loss was identified in 12 children. Three of these were diagnosed as having classic Kearns-Sayre syndrome; five as having multisystem KSS; two as having the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); one as having KSS-MELAS overlap syndrome; and one as having Friedreich ataxia. Longitudinal testing was performed in seven children, and in all of them a progression of the hearing loss could be demonstrated. Audiological test results in all 12 children suggested cochlear as well as retrocochlear origin of the hearing loss presenting independently from the severity of hearing impairment. No correlation between the characteristics and degrees of hearing loss and the number and severity of clinical neurological symptoms could be found. Conclusions The present study demonstrated a high incidence (42%) of sensorineural hearing loss in children with mitochondrial encephalomyopathies. The progressive nature of the hearing impairment was confirmed by a significant correlation between the duration in years and severity of hearing loss in the children. The hearing loss does not have a prognostic value for the progression of the disorder. Based on our findings, we recommend regular audiometric examinations in patients with mitochondrial disorders. [source] Delirium in Older Emergency Department Patients: Recognition, Risk Factors, and Psychomotor SubtypesACADEMIC EMERGENCY MEDICINE, Issue 3 2009Jin H. Han MD Abstract Objectives:, Missing delirium in the emergency department (ED) has been described as a medical error, yet this diagnosis is frequently unrecognized by emergency physicians (EPs). Identifying a subset of patients at high risk for delirium may improve delirium screening compliance by EPs. The authors sought to determine how often delirium is missed in the ED and how often these missed cases are detected by admitting hospital physicians at the time of admission, to identify delirium risk factors in older ED patients, and to characterize delirium by psychomotor subtypes in the ED setting. Methods:, This cross-sectional study was a convenience sample of patients conducted at a tertiary care, academic ED. English-speaking patients who were 65 years and older and present in the ED for less than 12 hours at the time of enrollment were included. Patients were excluded if they refused consent, were previously enrolled, had severe dementia, were unarousable to verbal stimuli for all delirium assessments, or had incomplete data. Delirium status was determined by using the Confusion Assessment Method for the Intensive Care Unit (CAM-ICU) administered by trained research assistants (RAs). Recognition of delirium by emergency and hospital physicians was determined from the medical record, blinded to CAM-ICU status. Multivariable logistic regression was used to identify independent delirium risk factors. The Richmond Agitation and Sedation Scale was used to classify delirium by its psychomotor subtypes. Results:, Inclusion and exclusion criteria were met in 303 patients, and 25 (8.3%) presented to the ED with delirium. The vast majority (92.0%, 95% confidence interval [CI] = 74.0% to 99.0%) of delirious patients had the hypoactive psychomotor subtype. Of the 25 patients with delirium, 19 (76.0%, 95% CI = 54.9% to 90.6%) were not recognized to be delirious by the EP. Of the 16 admitted delirious patients who were undiagnosed by the EPs, 15 (93.8%, 95% CI = 69.8% to 99.8%) remained unrecognized by the hospital physician at the time of admission. Dementia, a Katz Activities of Daily Living (ADL) , 4, and hearing impairment were independently associated with presenting with delirium in the ED. Based on the multivariable model, a delirium risk score was constructed. Dementia, Katz ADL , 4, and hearing impairment were weighed equally. Patients with higher risk scores were more likely to be CAM-ICU positive (area under the receiver operating characteristic [ROC] curve = 0.82). If older ED patients with one or more delirium risk factors were screened for delirium, 165 (54.5%, 95% CI = 48.7% to 60.2%) would have required a delirium assessment at the expense of missing 1 patient with delirium, while screening 141 patients without delirium. Conclusions:, Delirium was a common occurrence in the ED, and the vast majority of delirium in the ED was of the hypoactive subtype. EPs missed delirium in 76% of the cases. Delirium that was missed in the ED was nearly always missed by hospital physicians at the time of admission. Using a delirium risk score has the potential to improve delirium screening efficiency in the ED setting. [source] Is AZOOR an autoimmune disease?ACTA OPHTHALMOLOGICA, Issue 2007SF SEIDOVA Purpose: Acute zonal occult outer retinopathy (AZOOR) is one of the "white dot syndromes" a clinically heterogeneous group of inflammatory chorioretinopathies. The etiology is not yet clear. Methods: We present a 50 years female patient with a prior history of migraine. She experienced progressive visual loss and visual field defects in the last 3 years. Preceding each episode she experienced blue flickering photopsias. Results: Visual acuity was 0,3 in the right eye and 0,6 in the left eye. Biomicroscopy showed a normal anterior segment, fundus exam revealed pigment epithelial atrophy more pronounced in the worse eye. Electrophysiology showed a marked reduction in the photopic ERG in the more affected eye. MRI demonstrated multiple white matter lesions including a corpus callosum location. Lumbar puncture showed oligoclonal bands. Further tests demonstrated hearing impairment. Therapy was instituted during the three years course of the disease with steroids, immune suppressants and plasmapheresis with visual loss being progressive. New photopsia is currently present. Conclusions: The etiology of AZOOR remains unclear. With our patient being one of the few described in the literature with concomitant multiple sclerosis, the question remains on whether there is an underlying common process of inflammatory autoimmune reactions. Whether treatment is possible, remains to be evaluated. [source] Audit of local performance compared with standards recommended by the national guidelines for aetiologic investigation of permanent childhood hearing impairmentCHILD: CARE, HEALTH AND DEVELOPMENT, Issue 6 2005S. Yoong Abstract Background National guidelines for aetiologic investigation of childhood deafness were developed as the Newborn Hearing Screening Program (NHSP) was being implemented in the United Kingdom. This guidance document was expected to be incorporated into the operational procedure of the NHSP. Method This criterion-based audit compared local care set against developed guidelines that can be used to assess the appropriateness of specific investigations, services and outcomes. Data on children diagnosed to have sensorineural deafness from March 2002,2004 were extracted from an established computerized database for analysis. Results Forty-seven children were included; 17 have bilateral severe to profound hearing loss, 25 have bilateral mild to moderate loss and 5 with unilateral loss. A high proportion of Pakistani children were from consanguineous marriages with a family history of deafness. Total 29.8% of children were diagnosed through newborn screening and 70.2% detected through hearing surveillance programmes. For children with bilateral severe to profound deafness, 53.0% accepted, 5.9% declined and 41.2% were not offered imaging of their inner ears. A total of 47.1% accepted and 52.9% declined electrocardiograph (ECG) evaluation. Total 70.6% accepted and 29.4% declined connexin mutations testing. Parental requests were required for those with lesser degree of hearing loss. Total 24% accepted, 28% declined and 48% were not offered connexin testing. None were offered ECG and imaging. Testing for congenital infections was inappropriate for children over 1 year old. Ten subjects accepted and five declined this investigation. In the total group, 63.8% accepted, 17.0% declined and 19.1% were not offered referral to the ophthalmic service. Total 46.8% accepted, 44.7% declined and 8.5% were not offered referral to genetics service. Investigations resulted in two connexin-positive children with moderate loss. Conclusion Our study identified key areas where guidelines were not followed. These were related to lack of funding and parental choice. This sample has a higher connexin ,hit' rate for lesser degree deafness. [source] Phenotype and genotype in females with POU3F4 mutationsCLINICAL GENETICS, Issue 6 2009S Marlin X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients. Only one has an inner ear malformation. No genotype/phenotype correlation is identified. [source] Audioprofiling identifies TECTA and GJB2 -related deafness segregating in a single extended pedigreeCLINICAL GENETICS, Issue 2 2007NC Meyer An audioprofile displays phenotypic data from several audiograms on a single graph that share a common genotype. In this report, we describe the application of audioprofiling to a large family in which a genome-wide screen failed to identify a deafness locus. Analysis of audiograms by audioprofiling suggested that two persons with hearing impairment had a different deafness genotype. On this basis, we reassigned affectation status and identified a p.Cys1837Arg autosomal dominant mutation in ,-tectorin segregating in all family members except two persons, who segregated autosomal recessive deafness caused by p.Val37Ile and p.Leu90Pro mutations in Connexin 26. One nuclear family in the extended pedigree segregates both dominant and recessive non-syndromic hearing loss. [source] The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23CLINICAL GENETICS, Issue 5 2006G Ali Autosomal recessive non-syndromic hearing impairment (ARNSHI) is the most common form of prelingual inherited hearing impairment (HI). Here is described the mapping of a novel ARNSHI locus in a consanguineous Pakistani family with profound congenital HI. Two-point and multipoint linkage analyses were performed for the genome scan and fine mapping markers. Haplotypes were constructed to determine the region of homozygosity. At , = 0, the maximum two-point LOD score of 4.0 was obtained at marker AAC040. A maximum multipoint LOD score of 5.3 was derived at marker D12S320, with the three-unit support interval demarcated by D12S89 and D12S1042. The region of homozygosity is flanked by markers D12S358 and D12S1042, which corresponds to 22.4 cM according to the Rutgers combined linkage-physical map of the human genome and spans 15.0 Mb on the sequence-based physical map. A novel ARNSHI locus DFNB62 was mapped to chromosome 12p13.2-p11.23. DFNB62 represents the second ARNSHI locus to map to chromosome 12. [source] Speech adaptation after treatment of full edentulism through immediate-loaded implant protocolsCLINICAL ORAL IMPLANTS RESEARCH, Issue 1 2008Liene Molly Abstract Objectives: The objective of the present study was to evaluate the influence of immediate loading of implants on speech adaptation. Material and methods: Ten patients (mean age 54, 6 females) were examined before surgery and 1, 3, 6 and 12 months afterwards. Articulation analysis was done using objective DAT-recoded data evaluated by two groups of speech and language therapists and a computer software program. Besides, patient VAS-scores, myofunctional problems and hearing impairment were recorded and analysed. Results: In the present study only one patient suffered from deteriorated speech after immediate loading. Other patients showed unaffected or improved articulation 3 to 6 months after surgery with a strident and interdental pronunciation mostly becoming addental. Furthermore, myofunctional problems occurred in one patient, other patients adapted to the new situation after three months. Hearing impairment did not influence speech pathology in this study. Conclusion: Immediate loading of oral implants does not seem to compromise the normal 3,6 months speech adaptation period. Whether such procedure presents advantages to the conventional 2-stage rehabilitation remains to be investigated. [source] | ||||||||||||||||||||||||||||||||||