Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?.

Objective: To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. Study Design: New clinical cases and review. Setting: Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. Patients: Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. Interventions: Diagnostic and review of the literature. Results: Five patients presented with profound sensorineural hearing impairment and molecularly confirmed Noonan syndrome. Sensorineural hearing impairment has been progressive for three patients. Cardiac echography identified pulmonary stenosis in two patients and was normal for the three other patients. Short stature was found in two patients. Mild intellectual disability was found in one patient. Inconspicuous clinical features as facial dysmorphism, cryptorchidism, or easy bruising were of peculiar interest to reach the diagnosis of Noonan syndrome. Conclusion: Profound sensorineural hearing impairment can be the main feature of Noonan syndrome. Associated features are highly variable; thus, detailed medical history and careful physical examination are mandatory to consider the diagnosis in case of a sensorineural hearing impairment. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2h0YWxF
via IFTTT

Unique Case of Hearing Recovery After Otic Capsule Destruction and Complete Sensorineural Hearing Loss Caused by Langerhans Cell Histiocytosis.

: A 14-year-old woman presented with right-sided otologic and vestibular symptoms after presenting with hormonal disturbances earlier that year. Imaging showed a gross destruction of the temporal bone, mastoid air cells, and external acoustic meatus with invasion into the otic capsule. The patient experienced complete sensorineural hearing loss in the right ear. Biopsy diagnosed Langerhans cell histiocytosis (LCH) and the patient was treated with chemotherapy. After 1 year of treatment, the patient's hearing partially recovered and imaging showed reconstitution of the temporal bone including the otic capsule. Our case is the first report of complete sensorineural hearing loss with partial recovery after LCH treatment. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2eMtjal
via IFTTT

Vestibular Function in Adults With Epilepsy of Unknown Etiology.

Objective: This study aimed to evaluate vestibular function in adults with chronic epilepsy of unknown etiology in the inter-ictal period. Background: Epilepsy is a chronic medical disorder. Life-long therapy may be required in one-third of patients. Epilepsy is associated with comorbid somatic conditions which impairs patients' quality of life. Methods: This cross-sectional study included 28 with generalized tonic clonic (GTC) convulsions and 14 and 3 with temporal (TLE) and frontal lobe (FLE) epilepsies with secondary generalization (all were on regular carbamazepine therapy) and 40 healthy control subjects. The patients' mean age was 34.97 +/- 7.35 years and the duration of illness was 18.75 +/- 7.99 years. All underwent videonystagmography (VNG). Results: Compared with controls, patients had frequent vestibular symptoms including dizziness (62.22%) (p = 0.0001) and sense of imbalance (44.44%) (p = 0.0001). Eleven patients (24.44%) had central vestibular dysfunction (p = 0.0001); 9 (20%) had mixed vestibular dysfunction and one (2.22%) had peripheral vestibular dysfunction (p = 0.0001). Abnormalities were observed in saccadic (44.4%) and pursuit (42.2%) eye movements, optokinetic nystagmus (42.2%) and positioning/positional (11.11%) and caloric (13.33%) testing. TLE and FLE were associated with more VNG abnormalities than GTC. No significant differences were observed in the demographic and clinical characteristics between patients with and without VNG abnormalities. Conclusion: Vestibular manifestations are frequent in patients with epilepsy. This may be a result of the permanent damaging effect of chronic epilepsy on the vestibular cortical areas and/or a toxic effect from prolonged carbamazepine therapy on the peripheral and central vestibular systems. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2h0YOyb
via IFTTT

The Middle Ear Cleft Status in a "Natural" Cohort With Eustachian Tube Dysfunction.

Background: The Eustachian tube (ET) has a major role in the middle ear (ME) pressure homeostasis. ET dysfunction is the accepted paradigm for pressure-related ME disorders. We studied the ME status in patients with severely diminished ET opening abilities, and anticipated to find ME disorders in most of them. Patients and Methods: ME status was evaluated in unconscious adults, who were hospitalized in a rehabilitation center with severe brain damage, requiring tracheotomy and gastrostomy. These patients were unable to swallow, produce valsalva, yawn, and needed oral suctioning. Examination included fiberoptic nasopharyngoscopy, gag reflex and soft palate assessments, otoscopy, and tympanometry. Results: Nineteen patients (38 ears) were evaluated: 14 men and 5 women, aged 18 to 93 years (average 59). Duration of gastrostomy and tracheotomy were between 3 months and 18 years. All the patients lacked gag reflex, palatal movements, or supraglottic sensation. Eighteen ears (47%) had otitis media with effusion (OME) (versus ~3% in the general population, p = 0.00001), none had significant tympanic membrane atelectasis, but 20 (53%) ears were normal. Twenty-two ears (59%) had tympanometry types B/C and 16 (41%) had type A. Cerumen impaction incidence (26 ears, 68%) was significantly higher than in normal adults (10%), mentally retarded (36%), and nursing homes residents (57%). Conclusions: A dysfunctional ET predisposed ME disorders. Yet, ~50% of the ears were normal, in contrast to the current paradigm. This implies that ME pressure homeostasis is maintained by factors that can compensate for ET dysfunction. Treating cerumen impaction and OME may be beneficial for rehabilitation. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2eMtiTP
via IFTTT

Stable Longitudinal Performance of Adult Cochlear Implant Users for More Than 10 Years.

Objective: To analyze the long-term performance of cochlear implant patients. Study Design: Retrospective longitudinal study. Setting: Tertiary referral center with a large cochlear implant program. Main Outcome Measure: Speech perception scores in quiet and in background noise in the short-term (1.12 +/- 0.15 yr) and long-term (12.61 +/- 2.34 yr) after implantation. Patients: Fifty-eight implanted ears from 55 patients with a mean age of 51.80 +/- 1.757 years at the time of implantation were included. Results: Speech perception scores were stable in the long-term for up to 20 years postimplantation. When alteration of speech perception over time was investigated in relation to the age at implantation, there was a deterioration of the scores in quiet in older patients (>60 years old at the time of surgery). In addition the speech comprehension in noise was negatively correlated with the age at the time of the test. Conclusion: The speech perception abilities of cochlear implant users are stable in the long-term and at the most may be affected by the age of the patients, as it is known from acoustic hearing. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2h0YIqj
via IFTTT

Fingolimod (FTY-720) is Capable of Reversing Tumor Necrosis Factor Induced Decreases in Cochlear Blood Flow.

Hypothesis: The potential of Fingolimod (FTY-720), a sphingosine-1-phosphate analogue, to revoke the changes in cochlear blood flow induced by tumor necrosis factor (TNF) was investigated. Background: Impairment of cochlear blood flow has often been considered as the common final pathway of various inner ear pathologies. TNF, an ubiquitous cytokine, plays a major role in these pathologies, reducing cochlear blood flow via sphingosine-1-phosphate-signaling. Methods: Fifteen Dunkin-Hartley guinea pigs were randomly assigned to one of three groups (placebo/placebo, TNF/placebo, TNF/FTY-720). Cochlear microcirculation was quantified over 60 minutes by in vivo fluorescence microscopy before and after topical application of placebo or TNF (5 ng/ml) and after subsequent application of placebo or FTY-720 (200 [mu]g/ml). Results: Treatment with TNF led to a significant decrease of cochlear blood flow. Following this, application of placebo caused no significant changes while application of FTY-720 caused a significant rise in cochlear blood flow. Conclusions: FTY-720 is capable of reversing changes in cochlear blood flow induced by application of TNF. This makes FTY-720 a valid candidate for potential treatment of numerous inner ear pathologies. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2eLQim3
via IFTTT

Latest Research Link Hearing Loss with Cognitive Decline, Alzheimer’s

Researchers found that hearing loss, hospitalizations, and decreases in verbal fluency are associated with cognitive decline. These findings were presented at the Alzheimer's Association International Conference (AAIC) in London earlier this month.

A University of Wisconsin study that included 783 middle-aged adults in the Wisconsin Registry for Alzheimer's Prevention (WRAP)—a registry of adults with a maternal history of Alzheimer's disease—found that 9.2 percent of the participants reported having hearing loss at baseline. These participants performed worse on cognitive tests four years after baseline assessment than those who did not report any hearing loss. They also had more than doubled risk of developing mild cognitive impairment (MCI) in five years. Based on this prospective cohort study, researchers concluded that hearing loss may not only be a risk factor for MCI, but its identification and treatment may also help detect and manage MCI earlier, thereby reducing future cases of Alzheimer's.

The study, entitled "Self-Reported Hearing Loss, Cognitive Performance, and Risk of MCI: Findings from the Wisconsin Registry for Alzheimer's Prevention," was presented last July 17.

In another University of Wisconsin study, researchers found that changes in speech such as increases in the use of non-specific language (more pronouns), hesitations, and fillers were associated with early onset of MCI. In this study, researchers analyzed two speech samples taken two years apart from 264 middle-aged adults enrolled in the WRAP. Those who had early MCI were found to have reduced verbal fluency that declined faster based on the samples collected.

Other risk factors of cognitive impairment were also discussed at AAIC, including those posed by unplanned visits to emergency units. Bryan James, PhD, of the Rush Alzheimer's Disease Center at Rush University Medical Center explained that emergency or urgent hospital visits, as opposed to planned visits, are associated with significant acceleration (about 60 percent) of mental decline in older adults.

Author information: Noah Glenn

Published: 7/25/2017 5:03:00 PM

from #Audiology via ola Kala on Inoreader http://ift.tt/2uX8wqR
via IFTTT