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Sensorineural Hearing Loss (sensorineural + hearing_loss)
Kinds of Sensorineural Hearing Loss Selected AbstractsIntratympanic Dexamethasone for Sudden Sensorineural Hearing Loss After Failure of Systemic TherapyTHE LARYNGOSCOPE, Issue 1 2007David S. Haynes MD Abstract Objective: Intratympanic steroids are increasingly used in the treatment of inner ear disorders, especially in patients with sudden sensorineural hearing loss (SNHL) who have failed systemic therapy. We reviewed our experience with intratympanic steroids in the treatment of patients with sudden SNHL to determine overall success, morbidity, and prognostic factors. Hypothesis: Intratympanic steroids have minimal morbidity and the potential to have a positive effect on hearing recovery in patients with sudden SNHL who have failed systemic therapy. Study Design: The authors conducted a retrospective review. Methods: Patients presenting with sudden SNHL defined as a rapid decline in hearing over 3 days or less affecting 3 or more frequencies by 30 dB or greater who underwent intratympanic steroids therapy (24 mg/mL dexamethasone) were reviewed. Excluded were patients with Meniere disease, retrocochlear disease, autoimmune HL, trauma, fluctuating HL, radiation-induced HL, noise-induced HL, or any other identifiable etiology for sudden HL. Patients who showed signs of fluctuation of hearing after injection were excluded. Pretreatment and posttreatment audiometric evaluations including pure-tone average (PTA) and speech reception threshold (SRT) were analyzed. Patient variables as they related to recovery were studied and included patient age, time to onset of therapy, status of the contralateral ear, presence of diabetes, severity of HL, and presence of associated symptoms (tinnitus, vertigo). A 20-dB gain in PTA or a 20% improvement in SDS was considered significant. Results: Forty patients fit the criteria for inclusion in the study. The mean age of the patients was 54.8 years with a range from 17 to 84 years of age. Overall, 40% (n = 16) showed any improvement in PTA or SDS. Fourteen (35%) men and 26 (65%) women were included. Using the criteria of 20-dB improvement in PTA or 20% improvement in SDS for success, 27.5% (n = 11) showed improvement. The mean number of days from onset of symptoms to intratympanic therapy was 40 days with a range of 7 days to 310 days. A statistically significant difference was noted in those patients who received earlier injection (P = .0008, rank sum test). No patient receiving intratympanic dexamethasone after 36 days recovered hearing using 20-dB PTA decrease or a 20% increase in discrimination as criteria for recovery. Twelve percent (n = 5) of patients in the study had diabetes with 20% recovering after intratympanic dexamethasone (not significantly different from nondiabetics at 28.6%, Fisher exact test, P = 1.0). Comparison to other studies that used differing steroid type, concentration, dosing schedule, inclusion criteria, and criteria for success revealed, in many instances, a similar overall recovery rate. Conclusions: Difficulty in proving efficacy of a single modality is present in all studies on SNHL secondary to multiple treatment protocols, variable rates of recovery, and a high rate of spontaneous recovery. Forty percent of patients showed some improvement in SDS or PTA after treatment failure. When criteria of 20-dB PTA or 20% is considered to define improvement, the recovery rate was 27.5%. Modest improvement is seen with the current protocol of a single intratympanic steroid injection of 24 mg/mL dexamethasone in patients who failed systemic therapy. Dramatic hearing recovery in treatment failures was rarely encountered. No patient showed significant benefit from intratympanic steroids after 36 days when using this protocol for idiopathic sudden SNHL. If patients injected after 6 weeks are excluded from the study, the improvement rate increases from 26.9% to 39.3%. Earlier intratympanic injection had a significant impact on hearing recovery, although with any therapeutic intervention for sudden SNHL, early success may be attributed to natural history. If we further exclude seven patients treated with intratympanic steroids within 2 weeks of the onset of symptoms (i.e., study only those patients treated with intratympanic dexamethasone between 2 and 6 weeks after onset of symptoms), still, 26% improved by 20 dB or 20% SDS. The recovery rates after initial systemic failure are higher than would be expected in this treatment failure group given our control group (9.1%) and literature review. These findings indicate a positive effect from steroid perfusion in this patient population. [source] Two Temporal Bone Computed Tomography Measurements Increase Recognition of Malformations and Predict Sensorineural Hearing Loss,THE LARYNGOSCOPE, Issue 8 2006Derk D. Purcell MD Abstract Objectives/Hypothesis: The objectives of this prospective study were to assess the reproducibility of the measurements of the cochlea and lateral semicircular canal (LSCC) and to determine if abnormal measurements predict sensorineural hearing loss (SNHL). Methods: Two readers independently measured the cochlear height on coronal section and the LSCC bony island width on axial section on 109 temporal bone computed tomography scans; audiologic data on these patients were collected independently from medical records. Inter- and intrareader variability was evaluated using intraclass correlation coefficients (ICCs) based on a random-effects model. The positive and negative predictive values of abnormal measurement for hearing loss were determined. Results: There was excellent inter- and intraobserver agreement for both measurements (ICC >80%). The average cochlear height was 5.1 mm (normal range, 4.4,5.9 mm) and average LSCC bony island width was 3.7 mm (normal range, 2.6,4.8 mm). Review of the original radiology reports demonstrated that both cochlear hypoplasia and LSSC dysplasia were overlooked in >50% of patients with both abnormal measurements and SNHL. Cochlear hypoplasia (<4.4 mm) had a positive predictive value of 100% for SNHL, whereas cochlear hyperplasia and bony island dysplasia were less predictive. Conclusion: The measurements of coronal cochlear height and axial LSCC bony width have excellent reproducibility and identify bony labyrinth abnormalities missed by visual inspection alone. In addition, cochlear hypoplasia is highly predictive of SNHL. To reliably identify inner ear malformations, measurement of the cochlear height and LSCC bony island width, in addition to the vestibular aqueduct, should be routinely performed on all temporal bone studies. [source] Intratympanic Dexamethasone Injection for Refractory Sudden Sensorineural Hearing LossTHE LARYNGOSCOPE, Issue 5 2006Yun-Hoon Choung DDS Abstract Objective: This case-control study aimed to analyze the effect of intratympanic dexamethasone injection (ITDI) as a treatment option for patients with sudden sensorineural hearing loss (SSNHL) who were refractory to classic oral steroid treatment. Methods: Sixty-six patients with SSNHL, who were refractory to a course of oral steroid therapy, were included in this study. We prospectively treated consecutive 33 patients (34 ears) with ITDI from August 2002 to January 2004. We then retrospectively collected data from age- and sex-matched previous patients who did not take any more treatments after the initial regimen between March 2000 and July 2002. ITDI was performed in the supine position on four separate occasions over the course of 2 weeks. Hearing was assessed immediately before every injection and at 1 week after therapy. Hearing improvement was defined as more than 10 dB in pure-tone average (PTA). Results: Hearing improvement was observed in 13 (39.4%) of 33 patients who underwent ITDI and in two (6.1%) of 33 patients in the control group. Five of 13 represented hearing improvement over than 20 dB in PTA, and 11 of 20 patients, who showed no improvement in PTA by ITDI, showed improvement over 10 dB in some frequencies. There were no definite prognostic factors between the patients who responded to ITDI and those who did not. Conclusion: ITDI may be a simple and effective therapy for patients with refractory SSNHL. [source] Auditory Brainstem Response versus Magnetic Resonance Imaging for the Evaluation of Asymmetric Sensorineural Hearing Loss,THE LARYNGOSCOPE, Issue 10 2004Roberto A. Cueva MD Abstract Objectives/Hypothesis: Auditory brainstem response (ABR) testing and magnetic resonance imaging (MRI) are compared for the evaluation of patients with asymmetric sensorineural hearing loss (SNHL). MRI with gadolinium administration is the current gold standard for identifying retrocochlear lesions causing asymmetric SNHL. The study seeks to determine the sensitivity and specificity of ABR in screening for possible retrocochlear pathology. Most important among SNHL etiologies are neoplastic lesions such as vestibular schwannomas, cerebellopontine angle (CPA) tumors, as well as multiple sclerosis, stroke, or other rare nonneoplastic causes. The study results will allow the author to recommend a screening algorithm for patients with asymmetric SNHL. Study Design: The study is a multi-institutional, institutional review board approved, prospective, nonrandomized comparison of ABR and MRI for the evaluation of patients with asymmetric SNHL. Methods: Three hundred twelve patients (between the ages of 18 and 87) with asymmetric SNHL completed the study. Asymmetric SNHL was defined as 15 dB or greater asymmetry in two or more frequencies or 15% or more asymmetry in speech discrimination scores (SDS). These patients prospectively underwent both ABR and MRI. The ABR and MRI were interpreted independently in a blinded fashion. In addition to the ABR and MRI results, a variety of clinical and demographic data were collected. Results: Thirty-one (9.94%) patients of the study population of 312 were found on MRI to have lesions causing their SNHL. Of the 31 patients with causative lesions on MRI there were 24 vestibular schwannomas, 2 glomus jugulare tumors, 2 ectatic basilar arteries with brainstem compression, 1 petrous apex cholesterol granuloma, 1 case of possible demyelinating disease, and 1 parietal lobe mass. Twenty-two of the 31 patients had abnormal ABRs, whereas 9 patients (7 with small vestibular schwannomas) had normal ABRs. This gives an overall false-negative rate for ABR of 29%. The false-positive rate was found to be 76.84%. Sensitivity of ABR as a screening test was 71%, and specificity was 74%. Conclusions: Ten percent of patients with asymmetric SNHL (by this study's criteria) are likely to have causative lesions found on MRI. Although the recently reported annual incidence of vestibular schwannoma in the general population is 0.00124%, for patients with asymmetric SNHL in this study, the incidence was 7.7% (nearly 4 orders of magnitude higher). ABR has been demonstrated to have low sensitivity and specificity in the evaluation of these patients and cannot be relied on as a screening test for patients with asymmetric SNHL. Keeping the use of MRI conditional on the results of ABR will annually result in missed or delayed diagnosis of causative lesions in 29 patients per 1,000 screened. The author recommends abandoning ABR as a screening test for asymmetric SNHL and adoption of a focused MRI protocol as the screening test of choice (within certain guidelines). [source] Use of Laboratory Evaluation and Radiologic Imaging in the Diagnostic Evaluation of Children With Sensorineural Hearing Loss,THE LARYNGOSCOPE, Issue 1 2002Derek D. Mafong BS Abstract Objective Laboratory testing and radiologic imaging are commonly used to delineate syndromic from nonsyndromic sensorineural HL (SNHL). The aim of this study was to examine the yield of laboratory tests and radiologic imaging commonly used in the diagnostic evaluation of SNHL in children. Study Design Retrospective analysis of 114 (54 female, 60 male) consecutively investigated children with SNHL between 1998 and 2000 at a tertiary-care university hospital. Methods Results of routine laboratory testing to assess autoimmunity, blood dyscrasias, endocrine abnormalities, renal function, infection, and cardiac testing were reviewed. Results of radiologic evaluation were also reviewed. In general, computed tomography (CT) was obtained in patients with symmetric SNHL, whereas magnetic resonance imaging (MRI) with or without CT was obtained in asymmetric SNHL. Results Laboratory evaluation of the blood did not yield the etiology of SNHL in any patient. Blood tests for autoimmune disease were often positive but did not correlate with clinical disease. Nonspecific elevation of erythrocyte sedimentation rate (ESR) and antinuclear antibody (ANA) was present in 22% of cases. An abnormal electrocardiogram with a prolonged QT interval resulted in the diagnosis of Jervall and Lange-Nielsen syndrome. In the 97 patients who underwent radiologic studies, abnormalities were present in 38 of 97 studies (39%). Isolated inner ear malformations were twice as common as multiple abnormalities with large vestibular aqueducts as the most common isolated finding. Conclusion In the evaluation of children with unexplained SNHL, routine laboratory evaluation should be reconsidered given its low diagnostic yield. However, radiologic abnormalities of the inner ear are common. Identification of inner ear malformations has direct impact on management of these children, suggesting that all children should undergo radiologic imaging as an integral component of evaluation of SNHL. [source] Autoimmune Sensorineural Hearing Loss in Young Patients: An Exploratory StudyTHE LARYNGOSCOPE, Issue 11 2001Jean-Paul Tomasi MD Abstract Objectives P0 protein is expressed exclusively in myelinating Schwann cells of the peripheral nervous system. In a previous study from our laboratory, 27% of patients with sensorineural hearing loss (SNHL) had antibodies to P0 protein in their serum. The purpose of the present exploratory study was to examine the relationship between the clinical presentation of SNHL among children and young adults (age range, 5,30 y) and the presence of serum anti-P0 antibodies. Study Design The data were collected by retrospective questionnaires from Belgian otolaryngologists. Methods Patients were divided for comparison into two groups according to the presence or absence of anti-P0 antibodies. Results Analyses of clinical data and audiometric results indicated that a progressive hearing loss was more frequently recorded in the patients in the anti-P0 antibody,positive group (82% [14 of 17]) than in those in the anti-P0 antibody,negative group (35% [6 of 17]) (P <.005). Conclusions Thus, in the age group in the present study, autoimmune SNHL (as measured in the present study by the presence of anti-P0 antibodies) is more frequently associated with progressive than with sudden hearing loss. The implications of this finding for preventive screening of hearing loss in children and young adults are discussed. [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] Clinical application of neurotrophic factors: the potential for primary auditory neuron protectionEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 9 2005Lisa N. Gillespie Abstract Sensorineural hearing loss, as a result of damage to or destruction of the sensory epithelia within the cochlea, is a common cause of deafness. The subsequent degeneration of the neural elements within the inner ear may impinge upon the efficacy of the cochlear implant. Experimental studies have demonstrated that neurotrophic factors can prevent this degeneration in animal models of deafness, and can even provide functional benefits. Neurotrophic factor therapy may therefore provide similar protective effects in humans, resulting in improved speech perception outcomes among cochlear implant patients. There are, however, numerous issues pertaining to delivery techniques and treatment regimes that need to be addressed prior to any clinical application. This review considers these issues in view of the potential therapeutic application of neurotrophic factors within the auditory system. [source] Neurodevelopmental outcome in high-risk patients after renal transplantation in early childhoodPEDIATRIC TRANSPLANTATION, Issue 1 2002Erik Qvist Abstract: Patient and graft survival rates of pediatric renal transplant recipients are currently excellent, but there are few reports regarding the long-term neurodevelopmental outcome after renal transplantation (Tx) in early childhood. Children with renal failure from infancy would be expected to have a less favorable developmental prognosis. We report the neurodevelopmental outcome in 33 school-age children transplanted between 1987 and 1995 when < 5 yr of age. We prospectively performed a neurological examination, magnetic resonance imaging (MRI) of the brain, electroencephalograms (EEGs), audiometry, and neuropsychological tests (NEPSY), and measured cognitive performance (WISC-R); we related these results to school performance and to retrospective risk factors prior to Tx. Twenty-six (79%) children attended normal school and 76% had normal motor performance. Six of the seven children attending a special school had brain infarcts on MRI. The EEG was abnormal in 11 (35%), and five (15%) received anti-convulsive treatment after Tx. Sensorineural hearing loss was documented in six patients. The mean intelligence quotient (IQ) was 87, and 6,24% showed impairment in neuropsychological tests. The children attending a special school had been more premature, but had not had a greater number of pre- or neonatal complications. They had experienced a greater number of hypertensive crises (p =,0.002) and seizures (p =,0.03), mainly during dialysis, but the number of septic infections and the mean serum aluminum levels were not significantly greater than in the children with normal school performance. In these previously lethal diseases, the overall neurodevelopmental outcome is reassuring. However, it is of crucial importance to further minimize the risk factors prior to Tx. [source] Systemic steroid reduces long-term hearing loss in experimental pneumococcal meningitis,THE LARYNGOSCOPE, Issue 9 2010Lise Worsøe MD Abstract Objectives/Hypothesis: Sensorineural hearing loss is a common complication of pneumococcal meningitis. Treatment with corticosteroids reduces inflammatory response and may thereby reduce hearing loss. However, both experimental studies and clinical trials investigating the effect of corticosteroids on hearing loss have generated conflicting results. The objective of the present study was to determine whether systemic steroid treatment had an effect on hearing loss and cochlear damage in a rat model of pneumococcal meningitis. Study Design: Controlled animal study of acute bacterial meningitis. Methods: Adult rats were randomly assigned to two experimental treatment groups: a group treated with systemic steroid (n = 13) and a control group treated with saline (n = 13). Treatment was initiated 21 hours after infection and repeated once a day for three days. Hearing loss and cochlear damage were assessed by distortion product otoacoustic emissions (DPOAE), auditory brainstem response (ABR) at 16 kHz, and spiral ganglion neuron density. Results: Fifty-six days after infection, steroid treatment significantly reduced hearing loss assessed by DPOAE (P < .05; Mann-Whitney) and showed a trend toward reducing loss of viable neurons in the spiral ganglion (P = .0513; Mann-Whitney). After pooling data from day 22 with data from day 56, we found that systemic steroid treatment significantly reduced loss of spiral ganglion neurons (P = .0098; Mann-Whitney test). Conclusions: Systemic steroid treatment reduces long-term hearing loss and loss of spiral ganglion neurons in experimental pneumococcal meningitis in adult rats. The findings support a beneficial role of anti-inflammatory agents in reducing hearing loss and cochlear damage in meningitis. Laryngoscope, 2010 [source] Sensorineural hearing loss after general anaesthesia: 52 cases reported until now!ANAESTHESIA, Issue 2 2009J. Punj No abstract is available for this article. [source] Chondrocyte-specific Smad4 gene conditional knockout results in hearing loss and inner ear malformation in miceDEVELOPMENTAL DYNAMICS, Issue 8 2009Shi-Ming Yang Abstract Smad4 is the central intracellular mediator of transforming growth factor-, (TGF-,) signaling, which plays crucial roles in tissue regeneration, cell differentiation, embryonic development, and regulation of the immune system. Conventional Smad4 gene knockout results in embryonic lethality, precluding its use in studies of the role of Smad4 in inner ear development. We used chondrocyte-specific Smad4 knockout mice (Smad4Co/Co) to investigate the function of Smad4 in inner ear development. Smad4Co/Co mice were characterized by a smaller cochlear volume, bone malformation, and abnormalities of the osseous spiral lamina and basilar membrane. The development of the hair cells was also abnormal, as evidenced by the disorganized stereocilia and reduced density of the neuronal processes beneath the hair cells. Auditory function tests revealed the homozygous Smad4Co/Co mice suffered from severe sensorineural hearing loss. Our results suggest that Smad4 is required for inner ear development and normal auditory function in mammals. Developmental Dynamics, 2009. © 2009 Wiley-Liss, Inc. [source] Enlarged vestibular aqueduct in two male siblingsDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 10 2002C M Varghese MSc MRCP FRCPCH This report describes the case history of two male siblings with sensorineural hearing loss and an enlarged vestibular aqueduct (EVA). Sibling 1 presented with a history of intermittent self-limiting ataxia and hearing loss at the age of 25 months and sibling 2 presented with a similar history at the age of 18 months. MRI showed an enlarged endolymphatic duct and sac bilaterally in both children. Perchlorate discharge tests were positive in both infants leading to a diagnosis of Pendred syndrome. A number of conditions associated with EVA are discussed with a view to devising management strategies. [source] Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatmentEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 3 2003Angela Rösen-Wolff Abstract: Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is characterized by fever, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin rash, and a deforming arthritis. In the CIAS1 gene of many but not all CINCA patients, disease-associated mutations have been found recently. We here describe two such patients from Germany. One of them, a 3-yr-old boy, has a 1709A,G, Y570C, mutation, which has previously been described to cause CINCA syndrome. His clinical course is very severe and no satisfying response has been achieved even with high doses of local and systemic steroids. The other patient has a somewhat milder clinical course and considerable improvement could be accomplished with moderate and low doses of steroids. In her CIAS1 gene we have found a 1043C,T, T348M, mutation, which has only been detected in Muckle,Wells syndrome before. Our results suggest that the severity of symptoms in CINCA patients may be influenced by the underlying mutation in the CIAS1 gene. Furthermore, our observations support the view that CINCA syndrome and Muckle,Wells syndrome are essentially the same disease with different degrees of severity. [source] Neurologic manifestations of ulcerative colitisEUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2007R. Scheid Ulcerative colitis (UC) has traditionally been considered to be an inflammatory disease limited to the colonic mucosa. However, since it has been shown that UC is frequently accompanied by various extraintestinal disorders, there is increasing evidence that UC may also manifest in the nervous system. The following review focuses particularly on these possible manifestations of UC, both in the peripheral (PNS), and in the central nervous system (CNS). A systematic literature search according to the MEDLINE database was performed for this purpose. Although a reliable differentiation may clinically not always be possible, three major pathogenic entities can be differentiated: (i) cerebrovascular disease as a consequence of thrombosis and thromboembolism; (ii) systemic and cerebral vasculitis; (iii) probably immune mediated neuropathy and cerebral demyelination. With the exception of thromboembolism and sensorineural hearing loss, evidence for a causal relationship relies merely on single case reports or retrospective case series. Considering the CNS-manifestations, similarities between UC-associated disorders of the white matter and acute disseminated encephalomyelitis (ADEM) are obvious. Epileptic seizures, unspecified encephalopathies and confusional states are most likely epiphenomena that have to be regarded symptomatic rather than as own entities. A prospective study on the neurologic aspects of UC would be very welcome. [source] Turner syndrome and the evolution of human sexual dimorphismEVOLUTIONARY APPLICATIONS (ELECTRONIC), Issue 3 2008Bernard Crespi Abstract Turner syndrome is caused by loss of all or part of an X chromosome in females. A series of recent studies has characterized phenotypic differences between Turner females retaining the intact maternally inherited versus paternally inherited X chromosome, which have been interpreted as evidence for effects of X-linked imprinted genes. In this study I demonstrate that the differences between Turner females with a maternal X and a paternal X broadly parallel the differences between males and normal females for a large suite of traits, including lipid profile and visceral fat, response to growth hormone, sensorineural hearing loss, congenital heart and kidney malformations, neuroanatomy (sizes of the cerebellum, hippocampus, caudate nuclei and superior temporal gyrus), and aspects of cognition. This pattern indicates that diverse aspects of human sex differences are mediated in part by X-linked genes, via genomic imprinting of such genes, higher rates of mosaicism in Turner females with an intact X chromosome of paternal origin, karyotypic differences between Turner females with a maternal versus paternal X chromosome, or some combination of these phenomena. Determining the relative contributions of genomic imprinting, karyotype and mosaicism to variation in Turner syndrome phenotypes has important implications for both clinical treatment of individuals with this syndrome, and hypotheses for the evolution and development of human sexual dimorphism. [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] 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] Improved treatment of sudden hearing loss by specific fibrinogen aphaeresisJOURNAL OF CLINICAL APHERESIS, Issue 2 2004Heidrun Ullrich Abstract The etiology of sudden sensorineural hearing loss is still unclear and is thought to result from disturbances of microcirculation, infectious causes, or autoimmune disorders. So far standard therapy did not show clear improvement over spontaneous remission rate, which is assumed to be about 50% [Nakashima et al., Acta. Otolaryngol. Stockh. 514:14,16, 1994; Schuknecht and Donovan, Arch. Otorhinolaryngol. 243:1,15, 1986; Harris and Sharp, Laryngoscope 100:516,524, 1990; Mayot et al., Clin. Immunol. Immunopath. 68:41,45, 1993; Gussen, Ann. Otol. Rhinol. Laryngol. 85:94,100, 1976]. Elevated blood viscosity due to high fibrinogen levels is supposed to cause decreased cochlear blood flow and thus initiate sudden hearing loss. The specific lowering of fibrinogen immediately decreases plasma viscosity exactly to the desired extent and should lead to improved cochlear blood flow [Suckfüll et al., Acta. Otolaryngol 119:763,766, 1999; Suckfüll, Lancet 360:1811,1817, 2002; Walch et al., Laryngol. Rhino. Otol. 75:641,645, 1996; Suckfüll et al., Otol. Neurotol. 23:309,311, 2002]. In a prospective uncontrolled pilot study on 36 patients with unilateral sudden onset sensorineural hearing loss (SHL) we tried to establish that 1,3 specific fibrinogen aphaereses alone improve recovery of hearing and that it is possible to lower fibrinogen to the target of 80,100 mg/dl without important side effects. Pure tone audiometry was carried out immediately before and after each aphaeresis as well as at 2 and 4 weeks and 6 months after treatment. Sixteen patients recovered spontaneously before undergoing fibrinogen adsorption. All 20 aphaeresis patients improved during immunoadsorption; in 60% of patients auditory thresholds returned to normal after the first immunoadsorption and treatment could be discontinued, in another 20% of patients complete recovery was reached after 4 weeks. The mean plasma fibrinogen concentration of the 20 patients before the first aphaeresis session was 308.1 ± 51.5 mg/dl. Immediately after the first treatment session, the fibrinogen concentration was lowered to 100.7 ± 25.3 mg/dl (P < 0.001). The second and third sessions also showed highly significant reductions in plasma fibrinogen. No important side effects were seen. In conclusion, specific fibrinogen adsorption is a promising new treatment modality that should be tested in a prospective, randomized controlled trial in patients with sudden hearing loss. J. Clin. Apheresis 19:71,78, 2004. © 2004 Wiley-Liss, Inc. [source] Symptomatic infant characteristics of congenital cytomegalovirus disease in AustraliaJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 8 2005Sian C Munro Background: Human cytomegalovirus (CMV) is the most common cause of viral intrauterine infection. In utero transmission can occur during primary maternal infection, reactivation or reinfection of seropositive mothers. Objective: To describe the aetiology and clinical features of infants diagnosed with congenital CMV and to document maternal factors that were presented. Methods: Active national surveillance was initiated in 1999 in collaboration with the Australian Paediatric Surveillance Unit. Results: Monthly notifications resulted in 70 cases of congenital CMV being identified between 1999 and 2003. Nearly all of the cases were symptomatic with the most common clinical sequelae reported in infected infants being jaundice, thrombocytopaenia, hepatomegaly, petechiae, purpura and splenomegaly. Almost half (43.5%) of the infants had central nervous system (CNS) complications, such as microcephaly, chorioretinitis, sensorineural hearing loss, intracranial calcifications, developmental delay or seizures, with over half presenting two or more CNS abnormalities. Maternal febrile illness was noted in 54.8% of the cases. The majority of mothers were primiparous (46.4%) or secundiparous (39.3%), indicating two different population groups at risk of primary CMV infection. Conclusion: This study documents symptomatic congenital CMV cases in Australia. [source] Laser irradiation of the guinea pig basilar membraneLASERS IN SURGERY AND MEDICINE, Issue 3 2004Gentiana I. Wenzel MD Abstract Background and Objectives The cochlea is the part of the inner ear that transduces sound waves into neural signals. The basilar membrane, a connective tissue sheet within the cochlea, is tonotopically tuned based on the spatial variation of its mass, stiffness, and damping. These biophysical properties are mainly defined by its constituent collagen fibers. We sought to assess the effect of laser irradiation on collagen within the basilar membrane using histological analysis. Study Design/Materials and Methods Four excised guinea pig cochleae were stained with trypan blue. From these, two were irradiated with a 600 nm pulsed dye laser and two were used as controls. Collagen organization was visualized using polarization microscopy. Results Laser irradiation reduced the birefringence within the basilar membrane as well as within other stained collagen-containing structures. Larger reductions in birefringence were measured when more laser pulses were given. The effects were similar across all turns of each cochlea. Conclusions Laser irradiation causes immediate alterations in collagen organization within the cochlea that can be visualized with polarization microscopy. These alterations may affect cochlear tuning. Ongoing research is aimed at analyzing the effect of laser irradiation on cochlear function. It is conceivable that this technique may have therapeutic benefits for patients with high-frequency sensorineural hearing loss. Lasers Surg. Med. 35:174,180, 2004. © 2004 Wiley-Liss, Inc. [source] Auditory-evoked potentials in general anesthesia monitoring: baseline study of availability in relation to hearing function in awake statusACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 6 2005L. De Siena Background:, It has been confirmed that middle latency auditory-evoked potentials are good indicators of the hypnotic level in patients undergoing general anesthesia. The focal point for the evocation of auditory-evoked potentials is the presence of a serviceable hearing function. The aim of the study was to evaluate the limit of hearing loss above which the test could not be applied. Methods:, To determine the limit of applicability of the technique, 100 subjects were studied. Twenty of them were normally hearing and 80 were affected by sensorineural hearing loss of various degrees. Each subject was submitted to pure tone audiometry, to determine hearing threshold, and then, in awake status, to auditory-evoked potentials recording using acoustic stimuli of 85 dB HL. Results:, All the 20 normally hearing subjects showed a reliable auditory-evoked potentials. Among the 80 subjects affected by hearing loss, only five had no potentials. These five subjects presented a pure tone audiometry threshold greater than 85 dB HL. Conclusion:, The study demonstrated that middle latency auditory-evoked potentials recorded using an A-Line® (software version 1.4) AEP monitor (Danmeter, Odense, Denmark) can be carried out even in presence of hearing loss if the pure tone threshold is less than 85 dB HL. [source] Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood (Case Report)NEPHROLOGY, Issue 2 2006EYUP KOÇ SUMMARY: Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic nephropathy. It may be associated with acanthosis nigricans, hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis, hyperlipidaemia, dilated cardiomyopathy and short stature. We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome. [source] Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhoodPEDIATRIC DIABETES, Issue 4 2007Birthe S Olsen Abstract:, Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive condition, characterized by megaloblastic anaemia, non-autoimmune diabetes mellitus, and sensorineural hearing loss. We describe three infants with TRMA from two consanguineous Pakistani families, who were not known to be related but originated from the same area in Pakistan. All children were homozygous, and the parents were heterozygous for a c.196G>T mutation in the SLC19A2 gene on chromosome 1q23.3, which encodes a high-affinity thiamine transporter. The result is an abnormal thiamine transportation and vitamin deficiency in the cells. Thiamine in high doses (100,200 mg/d) reversed the anaemia in all our patients. Two patients discontinued insulin treatment successfully after a short period, while the third patient had to continue with insulin. The hearing loss persisted in all three children. The diagnosis of TRMA should be suspected in patients with syndromic diabetes including hearing loss and anaemia, even if the latter is only very mild and, particularly, in the case of consanguinity. [source] Association of the C677T polymorphism in the methylenetetrahydrofolate reductase gene with sudden sensorineural hearing loss,,§THE LARYNGOSCOPE, Issue 4 2010Yasue Uchida MD Abstract Objectives/Hypothesis: To investigate the recently reported association of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene with sudden sensorineural hearing loss (SSNHL), we analyzed data from a community-based Japanese population. Study Design: Nested case-control study. Methods: Among 2,174 adults (1,096 males and 1,078 females) aged 40 to 79 years old who participated in the National Institute for Longevity Sciences,Longitudinal Study of Aging, we compared 33 cases of prevalent SSNHL, defined as a self-reported otolaryngologist diagnosis, with the other cases. Multiple logistic regression was used to obtain odds ratios (ORs) for SSNHL in subjects with the MTHFR C677T polymorphism, with adjustment for other possibly influential factors under additive, dominant, and recessive genetic models. Results: The per-allele ORs for SSNHL risk were 1.687 (95% confidence interval [CI], 1.023,2.780) in model 1, with adjustment for age and sex, and 1.654 (CI, 1.003,2.728) in model 2, with adjustment for smoking status, body mass index, histories of heart disease, hypertension, and diabetes, in addition to the factors in model 1. In model 3, a significant association between SSNHL and the C677T polymorphism was observed under all genetic models independent of factors including folic acid and homocysteine, although there were only 25 cases and 1,677 controls due to the addition of moderating factors. Conclusions: Our results suggest that the T allele of MTHFR C677T could be associated with susceptibility to SSNHL, and even imply that this mutation could be a risk factor that is independent of blood folic acid and homocysteine. Laryngoscope, 2010 [source] Sudden bilateral sensorineural hearing loss after intravenous cocaine injection: A case report and review of the literatureTHE LARYNGOSCOPE, Issue 12 2009Markus Stenner MD Abstract Little is known about the effects of intravenous abuse of cocaine, especially on the inner ear. We report on a 26-year-old man who presented to our outpatient department with a sudden severe hearing loss after intravenous injection of cocaine. The audiogram on admission showed symmetric air conduction levels up to 80 dB at 4 kHz. After treatment with intravenous sodium chloride, prednisolone, and pentoxifylline, the audiogram 2 days later showed a bilateral normacusis. A review of the literature on the topic is given and possible reasons for inner ear damages caused by cocaine are discussed. Laryngoscope, 2009 [source] Hepatocyte growth factor protects auditory hair cells from aminoglycosidesTHE LARYNGOSCOPE, Issue 10 2009Yayoi S. Kikkawa MD Abstract Objectives/Hypothesis: To examine the effect of hepatocyte growth factor (HGF) for protection of auditory hair cells against aminoglycosides and its molecular mechanisms. Study Design: Experimental study. Methods: We quantitatively assessed protective effects of HGF on mouse cochlear hair cells against neomycin toxicity using explant culture systems. To understand mechanisms of hair cell protection by HGF, we examined the expression of c-Met, HGF receptor, and 4-hydroxynonenal (a lipid peroxidation marker) in the cochlea by means of immunohistochemistry and Western blotting. Results: The application of HGF to cochlear explant cultures significantly reduced the hair cell loss induced by neomycin. Immunohistochemistry showed c-Met expression in normal auditory hair cells, and its increase in response to neomycin-induced damage. Immunostaining for 4-hydroxynonenal suggested that HGF acted by attenuating the lipid peroxidation of auditory epithelia induced by neomycin. Conclusions: These findings demonstrate that a functional HGF/c-Met coupling is present in the cochlea, and HGF application exerts protective effects on hair cells, indicating the potential of HGF as a therapeutic agent for sensorineural hearing loss. Laryngoscope, 2009 [source] Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing lossTHE LARYNGOSCOPE, Issue 4 2009A. Eliot Shearer BSc Abstract Objectives. To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families. Study Design. Family study. Methods. Members of each family received otologic and audiometric examination for the type and extent of hearing loss. Linkage mapping using Affymetrix 50K GeneChips and short tandem repeat (STRP) analysis localized the hearing loss in both families to the DFNB3 locus. Direct sequencing of the MYO15A gene was completed on affected members of both families. Results. Family L-3165 segregated a novel homozygous missense mutation (c.6371G>A) that results in a p.R2124Q amino acid substitution in the myosin XVa protein, while family L-896 segregated a novel homozygous missense (c.6555C>T) mutation resulting in a p.P2073S amino acid change. Conclusions. These are the first MYO15A mutations reported to cause DFNB3 sensorineural hearing loss in the Iranian population. Like other mutations located in the myosin tail homology 4 (MyTH4) domain, the p.R2124Q and p.P2073S mutations are predicted to disrupt the function of the myosin XVa protein, which is integral to the mechanosensory activity of hair cells in the inner ear. Laryngoscope, 2009 [source] Audiological Application Criteria for Implantable Hearing Aid Devices: A Clinical Experience at the Nijmegen ORL Clinic,THE LARYNGOSCOPE, Issue 9 2008Veronique J. O. Verhaegen MD Abstract Objectives/Hypothesis: To define audiological application criteria for different implantable hearing aid devices. Study Design: Retrospective study. Methods: Comparisons were made between aided speech recognition scores obtained at conversational level (65 dB) in patients with the Vibrant Soundbridge (VSB) (n = 22), the Otologics middle ear transducer (MET) (n = 10), conventional hearing aids (behind-the-ears) (n = 47), and cochlear implants (CIs) (n = 123). Results: In relation to hearing loss, only for mild hearing loss, speech recognition scores with VSB were comparable to that with conventional hearing aids. In the Otologics MET users, speech recognition scores were comparable with those of the conventional hearing aid users until a mean hearing loss of about 75 dB HL. At a sensorineural hearing loss of about 65 dB HL or more, the Otologics MET users have better speech recognition scores than the VSB users. For comparison with CI users, we followed a more conservative approach. In 90% of the users of a CI, speech recognition scores were better than those in: 1) patients with a conventional hearing aid and a mean hearing loss of about 95 dB HL or worse; 2) patients with an Otologics MET and a mean hearing loss of 85 dB HL or worse. Conclusions: Patients fitted with a VSB or an Otologics MET middle ear implant do not demonstrate better speech recognition scores than patients fitted with today's conventional hearing aids. Results might even been worse. However, the VSB and Otologics MET are a good option in patients with moderate (VSB) to severe (Otologics MET) sensorineural hearing loss and external otitis. [source] Connexin 26 and 30 Genes Mutations in Patients with Chronic Rhinosinusitis,THE LARYNGOSCOPE, Issue 2 2008FACS, Nicolas Y. BuSaba MD Abstract Objectives: Connexin proteins play an important role in cell-to-cell communication. Mutations in the genes that encode for these connexins may potentially lead to dysfunction in mucociliary clearance predisposing to chronic rhinosinusitis (CRS) or recurrent acute rhinosinusitis (RARS). The objective of this study was to assess for the presence of connexin 26 and 30 gene mutations in patients with CRS and RARS. Study Design: Prospective case series. Methods: Forty-six consecutive patients who were diagnosed with CRS or RARS at a single tertiary care facility were included in the study. Patients with known dysfunction in mucociliary clearance were excluded. The following clinical data were collected: age, gender, duration of disease and age at onset, personal history of otitis media and/or sensorineural hearing loss (SNHL), and family history of paranasal sinus disease and SNHL. Buccal swab deoxyribonucleic acid (DNA) specimens were sequenced for connexin 26 and 30 genes. Results: The study group consisted of 32 females and 14 males, 8 children and 38 adults. Adequate sequencing of connexin 30 gene was possible in all 46 specimens, but in only 19 specimens for connexin 26 gene. Connexin 30 gene mutations were not detected in any of the 46 specimens. Two of the 19 specimens had heterozygous mutations in the connexin 26 gene; there was one V371 mutation and one 35dG mutation. Both patients were adults; the patient with 35dG mutation had SNHL. Conclusion: Mutations in connexin 26 and 30 genes are rare in patients with CRS or RARS and do not seem to play a contributory role in the pathogensis of these disorders. [source] | ||||||||||||||||||||||||||||||||||