The purpose of the research is to test the measurement of the total urinary volume, induced by the diuretic osmotic action of mannitol, in a group of symptomatic MD patients and in healthy controls.
...An altered excretory urinary volume after mannitol challenge was observed in symptomatic MD (874.3 ± 302.1) compared to healthy volunteers (361.7 ± 181.6) (p = 0.0001). This easy and self-administered method might be proposed to replace the analysis of the urinary sugars' concentration in symptomatic MD patients.
We report the case of a 51-year-old woman with multiple otologic and vestibular symptoms. She presented with two different types of tinnitus in her right ear, vertigo, and fluctuating aural symptoms ...in the left ear. She also complained of disequilibrium; chronic headache; hyperhidrosis; amenorrhea; insomnia; broadened hands and feet; and widened, thickened, and stubby fingers. The patient underwent careful collection of medical history, otomiscroscopy, pure tone audiometry, tympanometry, reflex threshold measurements, vestibular assessments, blood tests, magnetic resonance imaging (MRI), and cone beam computed tomography (CBTC) of the head. The audiogram showed: (1) a mild low-to-mid frequency conductive hearing loss, and a sharply sloping sensorineural hearing loss above 4000 Hz in the right ear; (2) a mild low-frequency sensorineural hearing loss in the left ear. MRI with 3D FLAIR sequences detected an acoustic neuroma (7.4 mm × 5.2 mm) in the middle-third of the right internal auditory canal, a pituitary macroadenoma (13 mm × 10 mm × 10 mm) and left saccular hydrops. The CBCT scan documented an outbreak of otosclerosis (3 mm) around the fissula ante fenestram in the right ear. Therefore, acoustic neuroma (right ear), growth hormone-secreting macroadenoma of the pituitary gland, Menière’s disease (left ear), and otosclerosis (right ear) were diagnosed/strongly suspected. A watch-and-wait strategy was adopted for acoustic neuroma and otosclerosis, while transsphenoidal surgery was successfully performed to remove the pituitary macroadenoma. This case report confirms that multiple otologic disorders can occur simultaneously in the same patient, requiring prompt audiological and imaging evaluations.
This book covers some innovative aspects of the multifaceted and continuously evolving field of rehabilitation of hearing loss. International leading experts share their view and advanced experience ...on unilateral deafness, services for the hard of hearing, hair cell regeneration, advanced imaging, active middle ear and bone conduction hearing aids, and cochlear implants.
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed ...with autosomal dominant non-syndromic HL have a hearing-impaired parent, although de novo mutations should be considered in all cases of negative family history. To date, more than 50 genes and 80 loci have been identified for autosomal dominant non-syndromic HL. DFNA22 (
gene), DFNA8/12 (
gene), DFNA20/26 (
gene), DFNA6/14/38 (
gene), DFNA15 (
gene), DFNA2A (
gene), and DFNA10 (
gene) are some of the most common forms of autosomal dominant non-syndromic HL. The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood to early adulthood), high-frequency (sloping audiometric configuration), progressive, and variable in severity (mild to profound degree). DFNA1 (
gene) and DFNA6/14/38 (
gene) are the most common forms of autosomal dominant non-syndromic HL affecting low frequencies, while DFNA16 (unknown gene) is characterized by fluctuating HL. A long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or cochlear implants.
Little is known regarding fitting parameters and receptive and expressive language development in cochlear-implanted children (CCI) with profound sensorineural hearing loss (SHL) who are diagnosed ...with Autism Spectrum Disorder (ASD). The aim of the study was to evaluate a group of ASD CCI users in order to describe their ASD clinical features and CCI outcomes; report on the average electrical charge requirements; and evaluate the possible correlations between electrical and psychophysical outcomes with ASD characteristics.
A multicentre observational study of 22 ASD children implanted in four cochlear implant (CI) centers. Data concerning profound SHL diagnosis, ASD diagnosis, CI timing and CI compliance were collected. Sound Field (SF) was assessed through repeated behavioural measurements. Categories of Auditory Perception (CAP) and Categories of Language (CL) were used to evaluate speech perception and language skills at short (≤2 yrs), medium (5 yrs) and long term (>10 yrs) follow-up. Fitting parameters such as comfortable thresholds, pulse-width (pw, μsec) and clinical units converted into units of charge/phase were collected. The diagnosis of ASD was acquired by the referral neuropsychiatric department and severity was assessed through the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and the Childhood Autism Rating Scale (CARS).
At the final follow-up session the median SF threshold for CI outcomes was 30 dB HL (min 15 – max 60). CAP score was extremely variable: 45.5% showed no improvement over time and only 22% of children reached CAP scores of 5–7. CL 45.5% showed no improvement over time and score was 1–2 in the majority of ASD children (72.7%), while only 18.2% reached the highest level of language skills. There were no statistically significant differences at each follow-up between subjects with or without comorbidities. CAP and CL were inversely correlated with DSM-V A and B domains, corresponding to lower speech and language scores in children with more severe ASD symptoms, and maintained their correlation at mid and long follow-ups whilst controlling for age at CI. Electrical charge requirements did not correlate with SF or age at implant but did inversely correlate with ASD severity. With regards to CI compliance: only 13.6% children (3) with severe DSM-V A/B levels and CARS score were partial/intermittent users.
The present study is a targeted contribution to the current literature to support clinical procedures for CI fitting and audiological follow-up in children with ASD. The findings indicate that the outcomes of CI use and the fitting procedures are both influenced by the severity of the ASD symptoms rather than the demographic variables or associated disorders.
Congenital Cytomegalovirus (cCMV) is the most common cause of non-genetic hearing loss in childhood. A newborn hearing screening program (NHSP) is currently running in Italy, but no universal cCMV ...nor statewide hearing-targeted CMV screening programs have been implemented yet. This observational monocentric study was aimed at estimating the rate of cCMV infections identified by CMV-DNA analysis on Dried Blood Spots (DBS) samples in deaf children identified via NHSP in Northern Italy in the period spanning from 2014 to 2018.
Children with a confirmed diagnosis of deafness and investigated for CMV-DNA by nucleic acid extraction and in-house polymerase-chain reaction (PCR) on stored newborns screening cards (DBS-test) were included in this study. Deafness was defined by a hearing threshold ≥20 decibel (dB HL) by Auditory Brainstem Responses (ABR); all investigated DBS samples were collected within 3 days of life.
Overall, 82 children were included (median age: 3.4 months; lower-upper quartiles: 2-5.3 months; males: 60.9%). Most of them (70.7%) presented bilateral hearing loss with a symmetrical pattern in 79.3% of the cases. ABR thresholds were ≥ 70 dB HL (severe/profound deafness) in 46.5% of children. Among all tested children, 6.1% resulted positive for cCMV. The rate of severe/profound deafness was statistically higher in children with cCMV infection.
The addition of DBS-test to the NHSP allowed the identification, in their first months of life, of a cCMV infection in 6.1% of children who had failed NHS. The introduction of a targeted CMV screening strategy could help clinicians in the differential diagnosis and in the babies' management. DBS samples can be considered a "universal newborns biobank": their storage site and duration should be the subject of political decision-making.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The aim of this study was to evaluate audiological characteristics and parents' opinions on hearing device use in children with unilateral sensorineural hearing loss (USNHL) who attended a ...tertiary-level audiologic center. The medical charts of 70 children aged 6 to 12 years with USNHL were reviewed. In 51.4% of cases, the children were diagnosed with USNHL after the age of 2 years. The main causes of USNHL were congenital cytomegalovirus infection (21.4%) and unilateral cochlear nerve hypoplasia (12.9%). The percentage of patients wearing a hearing device was 45.7% (32/70); of these, 28 (87.5%) wore a conventional hearing aid, 2 (6.3%) a CROS device, and 2 (6.3%) a cochlear implant. Regarding the choice to use a hearing device, no significant differences were found between the subcategories of hearing loss degree (
= 0.55) and audiometric configuration (
= 0.54). Most parents of children with mild-to-severe USNHL observed improved attention (90.9%), and reduced fatigue and restlessness (86.4%) using the hearing aid. These children performed significantly better on all audiological tests (speech perception in quiet and in noise conditions, and sound localization) while wearing the hearing aid (
< 0.001). More efforts should be made to raise awareness among professionals and parents about the negative consequences of uncorrected USNHL.
The diagnosis of “definite” Méniére's disease (MD) relies upon its clinical manifestations. MD has been related with Endolymphatic Hydrops (EH), an enlargement of the endolymphatic spaces (ES) ...(cochlear duct, posterior labyrinth, or both). Recent advances in Magnetic Resonance (MR) imaging justify its increasing role in the diagnostic workup: EH can be consistently recognized in living human subjects by means of 3-dimensional Fluid-Attenuated Inversion-Recovery sequences (3D-FLAIR) acquired 4 h post-injection of intra-venous (i.v.) Gadolinium-based contrast medium, or 24 h after an intratympanic (i.t.) injection. Different criteria to assess EH include: the comparison of the area of the vestibular ES with the whole vestibule on an axial section; the saccule-to-utricle ratio (“SURI”); and the bulging of the vestibular organs toward the inferior 1/3 of the vestibule, in contact with the stapedial platina (“VESCO”). An absolute link between MD and EH has been questioned, since not all patients with hydrops manifest MD symptoms. In this literature review, we report the technical refinements of the imaging methods proposed with either i.t. or i.v. delivery routes, and we browse the outcomes of MR imaging of the ES in both MD and non-MD patients. Finally, we summarize the following imaging findings observed by different researchers: blood-labyrinthine-barrier (BLB) breakdown, the extent and grading of EH, its correlation with clinical symptoms, otoneurological tests, and stage and progression of the disease.
Chondrodermatitis nodularis helicis (CNH) is an idiopathic inflammatory painful condition of the ear characterized by a tender nodule located on the helix or antihelix. Even if various causes have ...been ascribed, such as a microvascular injury due to acute exposure to cold or trauma, pressure, or rubbing, etiopathogenesis still remains unknown. We describe the unusual case of a young female with a peculiar sequential onset of bilateral CNH in the antihelix region, possibly ascribed to the direct use of mobile phone without earphones.
Sensorineural age-related hearing loss affects a large proportion of the elderly population, and has both environmental and genetic causes. Notwithstanding increasing interest in this debilitating ...condition, the genetic risk factors remain largely unknown. Here, we report the case of two sisters affected by isolated profound sensorineural hearing loss after the age of seventy. Genomic DNA sequencing revealed that the siblings shared two monoallelic variants in two genes linked to Usher Syndrome (USH genes), a recessive disorder of the ear and the retina: a rare pathogenic truncating variant in USH1G and a previously unreported missense variant in ADGRV1. Structure predictions suggest a negative effect on protein stability of the latter variant, allowing its classification as likely pathogenic according to American College of Medical Genetics criteria. Thus, the presence in heterozygosis of two recessive alleles, which each cause syndromic deafness, may underlie digenic inheritance of the age-related non-syndromic hearing loss of the siblings, a hypothesis that is strengthened by the knowledge that the two genes are integrated in the same functional network, which underlies stereocilium development and organization. These results enlarge the spectrum and complexity of the phenotypic consequences of USH gene mutations beyond the simple Mendelian inheritance of classical Usher syndrome.
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