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Objective: This study aimed to explore clinical characteristics and prognosis of elderly cases with sudden sensorineural hearing loss. Methods: Fifty-five elderly cases with sudden sensorineural hearing loss and 55 younger cases with sudden sensorineural hearing loss were enrolled in the study. Recovery rates of hearing between elderly group and younger group were compared. In elderly group, the recovery rate of hearing in the patients with normal hearing of the contralateral ear was compared to those with hearing loss of the contralateral ear. Results: The overall recovery rate in the elderly group was 50.9%, significantly lower than 74.5% in the younger group ( p  < .01). Among the elderly group, the patients with normal hearing of the contralateral ear recovered better than those with hearing loss of the contralateral ear (recovery rates, 76.7% versus 20.0%). Among the elderly group, the recovery rate of cases with treatment onset ≤14 days was 64.7%, while the recovery rate of those with treatment onset longer than 14 days was only 28.6%, with significant difference ( p  < .01). Conclusion: Elderly cases with sudden sensorineural hearing loss had poor prognosis. Prognosis of elderly cases with sudden sensorineural hearing loss was associated with hearing of the contralateral ear and treatment onset.

Many studies showed that children with sensorineural hearing loss (SNHL) have possible vestibular affection which is related to the severity of cochlear pathology., Objectives: this work is designed to evaluate vestibular function in children with congenital severe to profound SNHL and correlate the degree of hearing loss with the results of vestibular tests., Methods: this work included 52 children divided into two groups; control group consisted of 20 normal hearing children with no vestibular complaints, and study group consisted of 32 children with congenital severe to profound SNHL. All children were submitted to basic audiologic evaluation, combined vestibular evoked myogenic potentials, sinusoidal harmonic acceleration test (SHA) of rotatory chair test., Results: all children in the control group had normal oVEMP and cVEMPs results while abnormal cVEMPs and oVEMPs results were found in 89% and 96.9% of the tested ears of the study group respectively. Sinusoidal harmonic acceleration test results were normal in control group with significant reduction in gain, phase lead and higher level of asymmetry in 50% of the children in study group. There was a significant relation between the degree of hearing loss and the cVEMPs, oVEMPs abnormalities, while SHA test results showed no such relationship., Conclusion: There is an evident vestibular abnormalities in children with severe to profound sensorineural hearing loss as revealed by the rotatory chair testing and VEMPs recordings. Vestibular assessment is very important in such group as it has an impact on their rehabilitation plan., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Auditory deprivation in the form of deafness during development leads to lasting changes in central auditory system function. However, less is known about the effects of mild-to-moderate sensorineural hearing loss (MMHL) during development. Here, we used a longitudinal design to examine late auditory evoked responses and mismatch responses to nonspeech and speech sounds for children with MMHL. At Time 1, younger children with MMHL (8-12 years; n = 23) showed age-appropriate mismatch negativities (MMNs) to sounds, but older children (12-16 years; n = 23) did not. Six years later, we re-tested a subset of the younger (now older) children with MMHL (n = 13). Children who had shown significant MMNs at Time 1 showed MMNs that were reduced and, for nonspeech, absent at Time 2. Our findings demonstrate that even a mild-to-moderate hearing loss during early-to-mid childhood can lead to changes in the neural processing of sounds in late childhood/adolescence., Competing Interests: AC, OT, AC, SR, LH No competing interests declared, (© 2019, Calcus et al.)

Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Under carbamazepine monotherapy, the patient presented hypoparathyroidism accompanied by severe hypocalcemia. Subsequently, renal ultrasound analysis revealed bilateral multicystic dysplastic kidneys. Because she had difficulty hearing, we sequenced GATA3 and determined that she had a c.708&#95;709insC (p.Ser237Glnfs*66) allelic variant in exon 3. As a result, we found a family of this disease. Each family member, including her grandfather, mother, and two siblings, had HDR syndrome of varying clinical penetrance. We found a craniofacial anomaly, congenital choanal atresia, which was inherited as an autosomal dominant trait. Hypocalcemia coupled with vitamin D deficiency, triggered by carbamazepine treatment, ultimately revealed the proband's childhood- onset HDR syndrome. Pure-tone audiometry revealed different severities of deafness as well as the progression of sensory hearing loss. However, auditory brainstem response for hearing screening is probably insufficient for ascertaining HDR syndrome in the early stages of life. We presented new clinical clues to diagnose the HDR syndrome., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Objective Current recommendations for cochlear hydrops treatment include systemic glucocorticoids and diuretics. Cochlear cells express dopamine receptors, although their role is unknown in the pathophysiology of cochlear hydrops. Case Description We report the case of remission of recurrent right-sided cochlear hydrops in a young male patient treated with bromocriptine due to pituitary macroprolactinoma. Transient improvement was observed after oral steroid and diuretic treatment, but cochlear hydrops recurred until the dose of bromocriptine was increased to 10 mg daily. Conclusion Bromocriptine may stimulate dopamine receptors in cochlear cells with potential therapeutic role in patients with cochlear hydrops. There are no widely accepted and effective treatments for endolymphatic hydrops, and identifying potential new and efficacious therapeutics is of high relevance.

Tinnitus and hearing impairment are prevalent among headache patients. This study aims to investigate the risk of tinnitus, sensorineural hearing impairment, and sudden deafness in patients with non-migraine headache. Participants included 43 294 patients with non-migraine headache (non-migraine headache cohort) and 173 176 patients with no headache of any type (control cohort) frequency-matched with respect to 10-year age interval and sex from the Longitudinal Health Insurance Database 2005 of the Taiwan National Health Insurance Research Database. The mean age of the non-migraine headache cohort was 28.4 ± 14.9 years, and 58.5% of this cohort was male. The incidence rates of tinnitus, sensorineural hearing impairment, and sudden deafness were compared between cohorts using the Kaplan-Meier method with the log-rank test. A Cox proportional hazard model was used to examine the association of tinnitus, sensorineural hearing impairment, and sudden deafness with non-migraine headache, with adjustment for all covariates. The combined risk of either tinnitus, sensorineural hearing impairment, or sudden deafness was higher in the non-migraine headache cohort than in the control cohort (adjusted odds ratio [aHR], 2.73; 95% confidence interval [95% CI], 2.62-2.84; p < 0.0001). Subgroup analysis showed that patients in the non-migraine headache cohort were at significantly higher risk of developing tinnitus (aHR, 3.05; 95% CI, 2.91-3.19; p < 0.0001), sensorineural hearing impairment (aHR, 1.89; 95% CI, 1.74-2.05; p < 0.0001), and sudden deafness (aHR, 2.14; 95% CI, 1.77-2.59; p < 0.0001) than were controls. In this population-based study, the risks of tinnitus, sensorineural hearing impairment, and sudden deafness were found to be significantly higher in patients with non-migraine headache than in those without headache., Competing Interests: The authors have declared that no competing interests exist.

Background: The thalamus is an integrative hub conveying sensory information between cortical areas and related to cognition. However, alterations of the thalamus following partial hearing deprivation remains unknown., Purpose: To investigate the modifications of the thalamus and its seven subdivisions in terms of structure, function, and perfusion in subjects with sensorineural hearing loss (SNHL), as well as their associations with SNHL-induced cognitive impairments., Study Type: Cross-sectional study., Subjects: Thirty-seven bilateral long-term SNHL patients and 38 well-matched controls., Field Strength: 3 T/BOLD, T 1 -weighted imaging, arterial spin labeling (ASL)., Assessment: Quantitative measurements in the thalamus and subdivisions were obtained, including the relative volume, fractional amplitude of low-frequency fluctuation (fALFF) within slow 5 (0.01-0.027 Hz), slow 4 (0.027-0.073 Hz), and combined frequency (0.01-0.073 Hz), as well as the whole-brain functional connectivity. Twenty-five SNHL patients and 20 controls underwent ASL scanning. Then correlation analysis was computed between all significant changes and cognition tests., Statistical Tests: Continuous and categorical variables were compared by independent-sample t-test and chi-square test, respectively. Quantitative MRI measurement comparisons were corrected for multiple comparison, and functional connectivity (FC) analysis used two-sample t-test with false-discovery rate correction. Area under the curve (AUC) in receiver operating characteristic curve analysis was applied to evaluate the power of alterations in differentiating SNHL and controls., Results: No significant difference in the relative volume and perfusion of seven thalamus subdivisions were observed, but a decrease in fALFF in SNHL. SNHL showed reduced thalamic connectivity with the cerebellum lobule VIII, ventral anterior cingulate cortex, insula, superior temporal gyrus, media temporal gyrus, medial frontal gyrus, Heschl's gyrus, and temporal pole. And some FC abnormalities exhibited positive correlations with cognitive tests and high discriminative power (0.8 < AUC < 1) in two groups., Data Conclusion: SNHL led to decreased thalamic activity and widespread weakened connectivity with other brain areas., Level of Evidence: 2 Technical Efficacy Stage: 3 J. Magn. Reson. Imaging 2019;50:787-797., (© 2019 International Society for Magnetic Resonance in Medicine.)

Background: Pathogenic PLOD3 variants cause a connective tissue disorder (CTD) that has been described rarely. We further characterise this CTD and propose a clinical diagnostic label to improve recognition and diagnosis of PLOD3 -related disease., Methods: Reported PLOD3 phenotypes were compared with known CTDs utilising data from three further individuals from a consanguineous family with a homozygous PLOD3 c.809C>T; p.(Pro270Leu) variant. PLOD3 mRNA expression in the developing embryo was analysed for tissue-specific localisation. Mouse microarray expression data were assessed for phylogenetic gene expression similarities across CTDs with overlapping clinical features., Results: Key clinical features included ocular abnormalities with risk for retinal detachment, sensorineural hearing loss, reduced palmar creases, finger contractures, prominent knees, scoliosis, low bone mineral density, recognisable craniofacial dysmorphisms, developmental delay and risk for vascular dissection. Collated clinical features showed most overlap with Stickler syndrome with variable features of Ehlers-Danlos syndrome (EDS) and epidermolysis bullosa (EB). Human lysyl hydroxylase 3/ PLOD3 expression was localised to the developing cochlea, eyes, skin, forelimbs, heart and cartilage, mirroring the clinical phenotype of this disorder., Conclusion: These data are consistent with pathogenic variants in PLOD3 resulting in a clinically distinct Stickler-like syndrome with vascular complications and variable features of EDS and EB. Early identification of PLOD3 variants would improve monitoring for comorbidities and may avoid serious adverse ocular and vascular outcomes., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Objectives: We aimed to verify the hypothesis that metabolic syndrome (MetS) and its components affect the prognosis of idiopathic sudden sensorineural hearing loss (ISNNHL)., Study Design: A retrospective cohort study., Setting: Tertiary otology referral center., Patients: We divided patients who were diagnosed with ISSNHL between January 2015 and January 2018 into a MetS group and a Non-MetS group according to the diagnostic criteria of MetS., Interventions: We diagnosed ISSNHL patients by using pure-tone audiometry and treated them with oral steroids, blood flow promoting agents, and hyperbaric oxygen therapy., Main Outcome Measures: We used multivariate logistic analysis to identify prognostic factors of ISSNHL., Results: The MetS group comprised 94 patients, and the Non-MetS group comprised 162 subjects. Despite the rate of hypertension, diabetes mellitus, hyperlipidemia, and BMI, no significant difference was observed between the two groups (p > 0.05). The rates of complete recovery and partial recovery of the MetS group were significantly lower than those of the Non-MetS group (p < 0.05). According to the multivariate analysis, MetS was significantly correlated with a poor prognosis (OR = 2.912, p = 0.008), and the OR increased with an increase in the number of MetS components. Late onset of treatment, high initial hearing threshold, and presence of diabetes mellitus and hyperlipidemia were associated with a poor prognosis (p < 0.05)., Conclusions: The presence of MetS may negatively affect the recovery of Chinese patients with ISSNHL, and the prognosis was poorer with an increase in the number of MetS components. Early onset of treatment, low initial hearing threshold and absence of diabetes mellitus, and hyperlipidemia are associated with favorable hearing recovery.

Objective: EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy. In this article, our goal is to present a comprehensive description of epilepsy and its management. A literature review is also presented to consolidate and compare our findings with the previously reported cases., Methods: Retrospective chart review was done to collect patient data. Research clinic was organized to obtain missing data. Molecular genetic testing was done at the CGC Genetics Laboratory. Electroencephalogram (EEG) was done for all patients and interpreted by a pediatric epileptologist and brain MRI was reviewed by a pediatric neuroradiologist. Developmental assessment was done by a developmental pediatrician using Griffiths Mental Developmental Scale., Results: In patients with EAST syndrome, seizure is the first symptom occurring around 3-4 months of age. Most common seizure type was generalized tonic clonic (GTC). Usually, the seizures were brief lasting <3 min but few patients also presented with status epilepticus especially when the medication was weaned. Carbamazepine (CBZ) was found to be effective in most cases. Lamotrigine (LTG), valproic acid (VPA), and topiramate (TPM) were also found to be helpful. Routine EEGs were usually normal or showed non-specific findings. In few patients, EEG showed background slowing. Brain MRI revealed hyperintensity in the dentate nuclei in some patients, and quantitative volumetric analysis studies showed volume loss in different regions of the brain especially the cerebellum. All our five patients have the same homozygous c.170C>T (p.Thr57Ile) missense mutation in KCNJ10 gene., Conclusion: This article provides the readers with an understanding of the natural history of epilepsy in this syndrome to help in early recognition, avoid unnecessary investigations, and provide the best treatment for seizures. It also helps the physicians to share the prognosis of this rare syndrome with the parents., (Copyright © 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Purpose of Review: The literature regarding prophylactic treatment of rhegmatogenous retinal detachment in Stickler syndrome remains controversial. We review major published clinical studies and offer a critical analysis of this subject., Summary: Stickler syndrome is a systemic collagenopathy affecting multiple organ systems including the eye, ear, and skeleton. Stickler syndrome is probably the most common cause of genetically determined pediatric rhegmatogenous retinal detachment. Congenital developmental anomalies constitute over half rhegmatogenous detachments (RRD) in patients less than 10 years. The majority are caused by hereditary vitreoretinopathies associated with Stickler syndrome. Sixty percent of patients with Stickler syndrome develop RRD's over their lifetime with possible severe visual loss and subsequent lifelong morbidity. In view of these complications, some have emphasized the importance of prophylactic laser treatment to the retina of patients with Stickler syndrome to reduce the occurrence of and/or prevent future rhegmatogenous retinal detachment, but there appears to be insufficient data to support the absolute benefit of such prophylactic treatment. Guidelines regarding the age at prophylactic treatment as well as type and frequency of intervention are scarce and would benefit from additional clinical investigations.

Background: Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment. In some cases, patients present with a diversity of neurological signs. To date, mutations in six genes are known to cause Perrault syndrome, but they do not explain all clinically-diagnosed cases. In addition, the number of reported cases and the spectra of mutations are still small to establish conclusive genotype-phenotype correlations., Methods: Affected siblings from family SH19, who presented with features that were suggestive of Perrault syndrome, were subjected to audiological, neurological and gynecological examination. The genetic study included genotyping and haplotype analysis for microsatellite markers close to the genes involved in Perrault syndrome, whole-exome sequencing, and Sanger sequencing of the coding region of the TWNK gene., Results: Three siblings from family SH19 shared similar clinical features: childhood-onset bilateral sensorineural hearing impairment, which progressed to profound deafness in the second decade of life; neurological signs (spinocerebellar ataxia, polyneuropathy), with onset in the fourth decade of life in the two females and at age 20 years in the male; gonadal dysfunction with early cessation of menses in the two females. The genetic study revealed two compound heterozygous pathogenic mutations in the TWNK gene in the three affected subjects: c.85C>T (p.Arg29*), previously reported in a case of hepatocerebral syndrome; and a novel missense mutation, c.1886C>T (p.Ser629Phe). Mutations segregated in the family according to an autosomal recessive inheritance pattern., Conclusions: Our results further illustrate the utility of genetic testing as a tool to confirm a tentative clinical diagnosis of Perrault syndrome. Studies on genotype-phenotype correlation from the hitherto reported cases indicate that patients with Perrault syndrome caused by TWNK mutations will manifest neurological signs in adulthood. Molecular and clinical characterization of novel cases of recessive disorders caused by TWNK mutations is strongly needed to get further insight into the genotype-phenotype correlations of a phenotypic continuum encompassing Perrault syndrome, infantile-onset spinocerebellar ataxia, and hepatocerebral syndrome.

Patients with sensorineural hearing loss (SNHL) tend to show language delay, executive functioning deficits, and visual cognitive impairment, even after intervention with hearing amplification and cochlear implants, which suggest altered brain structures and functions in SNHL patients. In this study, we investigated structural brain MRI in 30 children with SNHL (18 mild to moderate [M-M] SNHL and 12 moderately severe to profound [M-P] SNHL) by comparing gender- and age-matched normal controls (NC). Region-based analyses did not show statistically significant differences in volumes of the cerebrum, basal ganglia, cerebellum, and the ventricles between SNHL and NC. On surface-based analyses, the global and lobar cortical surface area, thickness, and volumes were not statistically significantly different between SNHL and NC participants. Regional surface areas, cortical thicknesses, and cortical volumes were statistically significantly smaller in M-P SNHL compared to NC in the left middle occipital cortex, and left inferior occipital cortex after a correction for multiple comparisons using random field theory (p < 0.02). These regions were identified as areas known to be related to high level visual cognition including the human middle temporal area, lateral occipital area, occipital face area, and V8. The observed regional decreased thickness in M-P SNHL may be associated with dysfunctions of visual cognition in SNHL detectable in a clinical setting., (Copyright © 2019 ISDN. Published by Elsevier Ltd. All rights reserved.)

TSFM is a nuclear gene encoding the elongation factor Ts (EFTs), an essential component of mitochondrial translational machinery. Impaired mitochondrial translation is responsible for neurodegenerative disorders characterized by multiple respiratory chain complex defects, multisystemic involvement, and neuroradiological features of Leigh-like syndrome. With the use of a next-generation sequencing (NGS)-based multigene panel for mitochondrial disorders, we identified the novel TSFM homozygous variant c.547G>A (p.Gly183Ser) in a 5-year-old boy with infantile early onset encephalocardiomyopathy, sensorineural hearing loss, and peculiar partially reversible neuroimaging features. Our findings expand the phenotypic spectrum of TSFM-related encephalopathy, offering new insights into the natural history of brain involvement and suggesting that TSFM should be investigated in pediatric mitochondrial disorders with distinctive neurologic and cardiac involvement.

Enlarged vestibular aqueduct syndrome (EVAS) is the most common congenital ear anomaly that causes sensorineural hearing loss in children and may predispose a child to sudden hearing loss from sudden pressure changes or minor head trauma. We report a case of a 4-year-old boy with a history of a ventriculoperitoneal shunt and migraines who presented to the emergency department with parental and child care provider reports of acute hearing loss, without a history of trauma, infection, or hardware malfunction, who was diagnosed with bilateral EVAS. Diagnosis of EVAS occurs with specific temporal bone imaging with either high-resolution, thin-cut computed tomography or magnetic resonance imaging scans. Enlarged vestibular aqueduct syndrome is typically refractory to medical treatment and often results in hearing loss that is too severe to benefit from amplification, requiring cochlear implantation.

A female child with deafness was diagnosed to have neonatal diabetes mellitus at the age of 6 months, on routine evaluation prior to cochlear implant surgery. She presented to us at 11 months of age with diabetic ketoacidosis due to an intercurrent febrile illness. Her haematological parameters showed megaloblastic anaemia and thrombocytopenia. Therefore a possibility of Thiamine Responsive Megaloblastic Anaemia (TRMA) syndrome was considered. She was empirically treated with parenteral thiamine hydrochloride (Hcl). Subsequently, due to the unavailability of pharmacological preparation of oral thiamine Hcl in a recommended dose she was treated with benfotiamine. She had a sustained improvement in all her haematological parameters on oral benfotiamine. The insulin requirement progressively reduced and she is currently in remission for last 2 years. The genetic analysis confirmed the diagnosis of TRMA syndrome. Thus benfotiamine can be considered a new treatment option in management of TRMA syndrome., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose We retrospectively studied the efficacy of intratympanic steroid administration in comparison with hyperbaric oxygen (HBO) therapy for idiopathic sudden sensorineural hearing loss (ISSNHL) with negative prognostic factors. Method We enrolled 301 patients (302 ears) with ISSNHL (average hearing level at 250-4000 Hz ≥ 40 dB; time from onset to treatment ≤ 30 days). From August 2002 to March 2009, 174 patients (174 ears) received systemic steroid plus HBO therapy (HBO group), and from June 2015 to January 2018, 127 patients (128 ears) received systemic plus intratympanic steroid (IT group). Hearing outcomes were evaluated by 6 indices: cure rate, marked-recovery rate (percent of patients with hearing gain ≥ 30 dB), recovery rate (percent of patients with hearing gain ≥ 10 dB), hearing gain, hearing level after treatment, and percent hearing improvement compared to the unaffected contralateral ear. Results The recovery rate was significantly higher in the IT group than in the HBO group (80.5% vs. 68.4%, p = .019). The IT group showed a higher recovery rate than the HBO group in patients aged ≥ 60 years ( p = .010), patients with early (≤ 7 days from onset) treatment ( p = .005), patients with initial hearing levels ≥ 90 dB ( p = .037), and patients with vertigo/dizziness ( p = .040). The IT group also showed higher hearing gain and percent hearing improvement than the HBO group in patients with vertigo/dizziness ( p = .046 and p = .026, respectively). Conclusions Systemic plus intratympanic steroid is more effective for ISSNHL than systemic steroid plus HBO, particularly in patients with negative prognostic factors, such as old age, profound hearing loss, and/or presence of vertigo/dizziness.

Background: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome., Methods: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form., Results: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (±1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate., Conclusion: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients., (© The Author(s) 2019. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.)

Objective: To explore the relationships between glucocorticoid (GC) sensitivity and the prognosis of refractory sudden sensorineural hearing loss (SSNHL), and to analyze the related factors being affected the prognosis of SSNHL. Method: Ninety-one refractory SSNHL patients were enrolled in the present investigation. Peripheral blood mononuclear cells (PBMCs) from the refractory SSNHL were extracted to conduct GC proliferation dexamethasone (DEX) inhibition experiments. All patients accepted comprehensive treatment with methylprednisolone. Result: Total effective rate was 40.66% in refractory SSNHL patients. Gender, number of affected ear, age, accompanying with vertigo, tinnitus or not and the procedure of methylprednisolone treatment were irrelevant to the efficacy. Only the inhibitory rate of DEX and the time from onset to visit were related to GC treatment effect, especially for inhibitory rate of DEX. The DEX inhibition rate of the effective group was higher than that of the ineffective group. Conclusion: DEX inhibition rate can predict GC sensitivity and prognosis of SSNHL. GC sensitivity and the time from onset to treatment are two important factors affecting the prognosis of refractory SSNHL patients.., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Background: In sudden and asymmetrical progressive sensorineural hearing loss (SNHL), magnetic resonance imaging (MRI) is required to evaluate retrocochlear pathology and, with recent advances in MRI techniques, inner ear pathology. Given the limited literature regarding inner ear pathology associated with SNHL, we aimed to assess the incidence of retrocochlear and inner ear pathology, and congenital malformation on MRI in sudden SNHL (SSNHL) and progressive SNHL., Methods: A total of 987 acoustic neuroma (AN) protocol MRI internal acoustic meatus studies performed at our institution to investigate SNHL between January 2013 and December 2015 inclusive were identified. Following categorization for indication of SSNHL versus progressive asymmetrical SNHL, MRIs with retrocochlear or inner ear abnormality, congenital malformation or other otology-related abnormality were identified, and further data were collected for these patients including patient demographics, associated symptomatology, management and outcomes., Results: In SSNHL, aetiological abnormality on MRI was identified for 6.9% patients with AN present on 4% overall. 3.2% of MRIs for progressive asymmetrical SNHL identified a causative lesion with 2.3% of scans overall diagnosing AN. The incidence of congenital inner ear malformation on MRI in the setting of SSNHL and progressive asymmetrical SNHL are 1.7% and 0.6%, respectively., Conclusion: This is the first retrospective study of inner ear MRI abnormalities in both SSNHL and progressive asymmetrical SNHL in Australia and one of the largest cohorts published in the literature to date. MRI must be performed in the setting of SNHL to ensure aforementioned and rarer causative lesions are identified., (© 2018 Royal Australasian College of Surgeons.)

Objective: Evidence shows that anemic individuals are at a higher risk of hearing loss. However, there is no systematic review and meta-analysis study. Thus, we aimed to meta-analyze the existing evidence on the association of iron deficiency anemia (IDA) with sensorineural hearing loss (SNHL). We searched PubMed, MEDLINE, Embase, Scopus, and Google Scholar from inception through October 30, 2017, for studies done on the association of the IDA with SNHL. Pooled odds ratio (OR) was calculated by random effect meta-analysis method. Heterogeneity was assessed by I 2 metrics., Result: Four studies, covering a total of 344,080 adults and children, were included. The odds of SNHL was higher by 55% in individuals with IDA, compared with individuals without IDA (OR = 1.55, 95% CI 1.17-2.06; P = 0.03). The age-specific ORs were 1.36 (95% CI 1.15-1.61; P = 0.27) and 3.67 (95% CI 1.72-7.84) for adults and children, respectively. IDA may be a contributing factor to hearing loss. Further studies are warranted, including whether IDA treatment reduces the risk of hearing loss. Meanwhile, hearing loss screening in anemic individuals, or vice versa, may represent an important consideration. PROSPERO registration CRD42017082108.

Background: Hypothyroidism, one of the prevalent endocrine disorders worldwide, has a broad spectrum of clinical manifestations, from an asymptomatic condition to myxedema coma. Although the majority of patients with hypothyroidism have minor clinical symptoms, which are recovered with levothyroxine treatment, some patients occasionally do experience fatal complications. Here we report, for the first time, the case of a patient who had hypothyroidism with simultaneous occurrence of rhabdomyolysis with acute kidney injury, moderate pericardial effusion, and sudden sensorineural hearing loss., Case Presentation: A 57-year-old man with a previous history of dyslipidemia and untreated hypothyroidism was admitted to the hospital due to shortness of breath, lethargy, lower extremity discomfort, and unilateral hearing loss. Laboratory results revealed rhabdomyolysis with acute kidney injury and severe hypothyroidism. We detected cardiomegaly without lung parenchymal infiltration on chest radiography and moderate pericardial effusion on transthoracic echocardiography. We performed pure tone audiometry and identified profound unilateral sensorineural hearing loss. Aggressive fluid resuscitation, levothyroxine treatment, and systemic and intratympanic steroid therapy alleviated the patient's severe hypothyroidism, rhabdomyolysis, and pericardial effusion; however, sensorineural hearing loss was not fully recovered., Conclusions: Early recognition of life-threatening complications is important in patients with severe hypothyroidism to prevent adverse outcomes. This case suggests that hypothyroidism should be considered in patients who have rhabdomyolysis with acute kidney disease and pericardial effusion. Moreover, sudden sensorineural hearing loss should be kept in mind as a rare complication of hypothyroidism.

Objective: To analyze acute vertigo showing spontaneous nystagmus with negative video head impulse test (vHIT)., Study Design: Retrospective chart analysis., Setting: Tertiary referral hospital., Subjects and Methods: Over 16 months, 155 patients were identified with acute vertigo with spontaneous nystagmus. Of these 155, 30 (19.4%) were enrolled in this study because they did not show gain loss or catch-up saccades in both sides of the horizontal vHIT. Results of vestibular function tests (videonystagmography, horizontal vHIT, caloric test, and cervical vestibular-evoked myogenic potential [cVEMP]) and pure tone audiometry were analyzed. For all cases, magnetic resonance imaging with diffusion-weighted imaging was checked., Results: Patients consisted of 17 with Ménière's disease and 7 with sudden sensorineural hearing loss with vertigo (SSNHL&#95;V), and only 3 patients were finally diagnosed as having acute vascular stroke. Except for the loss of hearing on the lesion side, the direction of nystagmus or cVEMP asymmetry showed very different results. All 7 patients with SSNHL&#95;V did not have canal paresis in the caloric test, but cVEMP amplitude was smaller on the lesion side for 6 patients., Conclusions: For patients with acute vertigo presenting spontaneous nystagmus with negative horizontal vHIT, it is important not only to focus on the diagnosis of acute vascular stroke but also to evaluate hearing because of the high possibility of Ménière's disease or SSNHL&#95;V.

Objective: To evaluate the prevalence of bilateral hearing loss in children with unilateral enlarged vestibular aqueduct (EVA) at a single institution., Methods: A retrospective case review was performed at a tertiary care pediatric referral center involving children with radiologic findings of unilateral EVA and normal labyrinthine anatomy of the contralateral ear diagnosed via CT and/or MRI. The main outcome measure of interest is the number of patients with unilateral EVA who were diagnosed with bilateral hearing loss., Results: Sixty-one pediatric patients were identified. The mean audiometric follow-up was 48.2 months (0-150). Three (4.9%) patients with unilateral EVA were noted to have bilateral hearing loss, and this rate was not significantly different (p = 1.0) from the rate reported in a comparison group of patients with contralateral hearing loss (6.0%) without an EVA. The pure-tone average (defined as the average dB HL at 500, 1000, 2000, and 4000 Hz) in the group with bilateral hearing loss was 31.3 dB HL in the better hearing ear and 79.6 dB HL in the worse hearing ear, with the difference being statistically significant (p = 0.02). In the unilateral EVA patients without contralateral hearing loss (n = 56, 91.8%), the PTA was 9.4 dB HL in the better hearing ear and 51.9 dB HL in the worse hearing ear, with the difference being statistically significant (p < 0.001). Two patients (3.3%) with unilateral EVA were found to have hearing within normal limits bilaterally. The EVA was ipsilateral to the worse hearing ear in all cases., Conclusion: The prevalence of bilateral hearing loss in children with unilateral EVA appears to be low. Specifically, it may be no different than the rate of contralateral hearing loss in children with unilateral hearing loss without an EVA. The present report is somewhat different than the previously described prevalence in the literature. This difference could be related to the imaging type and diagnostic criteria used, the patients included, the source of the identified patents, and the overall population of patients studied., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Background and Objectives: No consensus has been reached regarding the optimum treatment or factors affecting prognosis in pediatric idiopathic sudden sensorineural hearing loss (ISSNHL) due to its rarity. In the present study, treatment outcomes and prognostic factors of ISSNHL were investigated in pediatric patients who underwent steroid therapy., Subjects: and Methods: Forty-two patients diagnosed with ISSNHL were enrolled in this retrospective study and compared with 39 normal healthy controls with respect to demography and complete blood cell count test results. In addition, prognosis factors were sought by dividing the 42 ISSNHL patients to 3 groups according to their response to the treatment., Results: Neutrophil-to-lymphocyte ratio (NLR) value in the ISSNHL group were significantly higher than in the control group. NLR value in the three treatment response groups differed significantly. Early treatment with steroid and accompanying tinnitus were positive prognostic factor for hearing recovery. Other characteristics were not significant., Conclusion: The results of this study suggest that good hearing recovery in children may be associated with early time of initial treatment and accompanying tinnitus. Also, NLR value might be useful readily accessible prognostic markers in pediatric ISSNHL patients. Further studies are required to confirm prognostic factors useful to predict prognosis and treat ISSNHL in pediatric patients., (Copyright © 2019 Elsevier B.V. All rights reserved.)

The genetic causes of combined pituitary hormone deficiency remain elusive in most patients. Recently, incompletely penetrant heterozygous mutations in ROBO1 have been described in patients with pituitary stalk interruption syndrome. Herein, we identified a novel homozygous slice site mutation in ROBO1 (c.1342+1G>A) using a trio whole-exome sequencing strategy in a 5-year-old Japanese boy who had combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus, and characteristic facial features, including a broad forehead, micrognathia, and arched eyebrows. Magnetic resonance imaging delineated anterior pituitary hypoplasia, ectopic posterior pituitary, invisible pituitary stalk, thinning of the corpus callosum, and hypoplasia of the pons and midbrain. The phenotypically normal parents (first cousins) were heterozygous for the mutation. The results provide further evidence of ROBO1 being involved in the development of the pituitary gland. A recessive mutation of ROBO1 is a potential novel cause of a syndromic disorder associated with combined pituitary hormone deficiency.

MYH9 disorders are associated with sensorineural hearing loss, glomerular nephropathy, and presenile cataract. With this case report, we show the important role of the blood smear in its identification.

Background: Pediatric retinal detachments occur rarely, and thus may be easily missed. Without treatment, this condition leads to permanent vision loss. Patients with Stickler syndrome, an inherited disorder of collagen synthesis, are more likely to have retinal detachments than the general population., Case Report: We present a case of a 9-year-old boy who presented to the Emergency Department with blurry vision, and who was subsequently diagnosed with bilateral retinal detachments. The patient underwent successful operative intervention. He was eventually determined to have Stickler syndrome. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: It is important for emergency physicians to recognize pediatric visual problems such as retinal detachment, as their presentations may be unusual, and delay of definitive care could result in lifelong visual impairment., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Aim: Epstein syndrome is a hereditary disease characterized by macrothrombocytopaenia and progressive nephritis. The abnormality of the MYH9 gene has a strong relationship to the severity of the disease. Severe Epstein syndrome progresses to end-stage renal disease rapidly after adolescence. There is no established therapy. We sought to clarify appropriate management of Epstein syndrome nephropathy., Methods: Epstein syndrome patients who underwent renal transplantation at our institution between March 2009 and March 2017 were enrolled. Epstein syndrome was diagnosed based on clinical features and genetic testing. Patient medical records were reviewed retrospectively., Results: Four male patients with Epstein syndrome, all with severe MYH9 gene mutations (p.R702C in three and p.S96L in one), were enrolled. Despite treatment with renin-angiotensin system blockers, nephropathy was refractory and progressed rapidly, and the patients required dialysis or renal transplantation after adolescence. Early preparation for treatment based on early and accurate diagnosis of Epstein syndrome enabled two patients to undergo pre-emptive renal transplantation. For these patients, we kept the platelet count above 100 × 10 9 /L until day 7 after renal transplantation with platelet transfusions for macrothrombocytopaenia, and no postoperative bleeding episodes occurred., Conclusion: Epstein syndrome nephropathy due to a severe MYH9 gene mutation can be refractory and progress rapidly; therefore, early and accurate diagnosis is important for safer therapeutic options including pre-emptive renal transplantation. By keeping the platelet count above 100 × 10 9 /L during the perioperative period, renal transplantation can be a safe treatment option for severe Epstein syndrome nephropathy., (© 2018 Asian Pacific Society of Nephrology.)

Objective: To investigate any meaningful differences in hearing between patients with unilateral and bilateral enlarged vestibular aqueduct (EVA). EVA is a common radiological finding in children presenting with hearing loss. We hope to provide insight into the pathogenesis of EVA and provide further guidelines for unilateral EVA management. We hypothesized that hearing loss in unilateral EVA would be similar to that seen in bilateral EVA., Methods: A longitudinal retrospective study design was used. Three measures of hearing, pure tone average (PTA) word recognition score (WRS) and speech awareness threshold (SAT) and radiologic morphologies were tested for difference across unilateral versus bilateral ear EVA status. Linear mixed effects models were used to identify differences while accounting for time and multiple measurements per ear., Results: Using Cincinnati criteria, 89 ears fit inclusion criteria, 75 of which were from patients with bilateral EVA compared to 14 ears from patients with unilateral EVA. No significant differences across bilateral status were observed in audiological measurements. Models showed that speech recognition threshold (SRT) (p = 0.925), word recognition score (WRS)(p = 0.521) and pure tone average (PTA) of air and bone conduction from 250 to 4000 Hz (p = 0.281-0.933) were not statistically different with respect to bilateral status. Wilcoxon rank-sum tests showed no statistical difference in vestibular aqueduct width or operculum size (VA)(p = 0.234, p = 0.623). Each year after the first audiogram was associated with significantly greater SRT (p = 0.003) decreased WRS (0.014) and increased PTA (0.003.). Greater midpoint width was associated with significantly lower SRT (p = 0.004) WRS (<0.001) and PTA (<0.001.) CONCLUSION: Our results indicate no statistically significant difference in hearing ability with respect to bilateral EVA status, suggesting that unilateral EVA patients require close follow-up. Our results also demonstrate the progressive nature of EVA and a relationship between VA midpoint width and hearing loss severity., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Introduction: The aim was to investigate the progress of hearing loss over time in a cohort of pendred syndrome and non-syndromic enlarged vestibular aqueduct (PS/NSEVA) with one or two confirmed pathogenic variations in SLC26A4., Study Design: Retrospective cohort study., Subjects and Methods: At our tertiary referral center, a retrospective search of all patients with enlarged vestibular aqueduct, hearing loss and SLC26A4 mutations yielded 103 individuals by March 2017, 96 of whom had records of hearing levels; both an early audiometry and the latest between 3 and 668 months follow-up. Pure-tone average (PTA; average of thresholds at 0.5, 1, 2 and 4 kHz) was calculated for both ears at time 1 and time 2. Neonatal screening results were retrieved., Results: Eighty-seven (87) individuals had biallelic (M2) and 16 had monoallelic alterations (M1) in their SLC26A4. On average, the PTA progressed to 80 dB HL by the age of 6 years for the entire cohort, and 3.2 years for the biallelic (M2) affected individuals. 25% of the cohort was screened in the neonatal screening program; of these 42% had "passed" at least monaurally. Audiometric profiles related to age show faster deterioration in high frequencies than in low frequencies., Conclusion: In patients with PS/NSEVA and SLC26A4 mutations, the average hearing loss progresses to 80 dB HL by the age of 6 years. For biallelic (M2) affected individuals it was 3.2 years. Although hearing levels reached severe to profound during childhood, almost 1/2 had passed neonatal hearing screening, at least monaurally, emphasizing the need for close follow-up.

Objective: To further recognize the clinical characteristics of non-syndromic enlarged vestibular aqueduct through the retrospective analysis of cases, with the purpose of providing references for clinical diagnosis and treatment. Method: Collect 54 cases of non-syndromic enlarged vestibular aqueduct, and analyze their clinical characteristics after history taking, physical examination, audiometry and imaging examination. Measure the biggest width of midpoint between internal and external of vestibular aqueduct on temporal bone thin-section CT, and analyze the relationship between the pipe width and sides of ear, types of hearing loss and degree of hearing loss through t test. Result: All 54 patients with non-syndromic enlarged vestibular aqueduct had bilateral ear involvement. There were 42 cases with prelingual deafness, 12 cases with postlingual deafness, and there were 38 ears with severe deafness, 70 ears with profound deafness. Ninety-six ears of hearing loss showed sensorineural deafness, and 12 ears manifested mixed deafness. The biggest width of midpoint between internal and external of vestibular aqueduct spread over 1.60-3.90 mm, and the average was 2.60 mm. There were no significant differences in data between left and right sides, degree of hearing loss and type of hearing loss. Conclusion: Non-syndromic enlarged vestibular aqueduct mainly manifests serious sensorineural deafness, and the diagnosis depends on imaging examination. There is no difference in the degree of expanding between left and right ear, and the extent of enlargement is not related to the type and the severity of hearing loss., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Epidemiological evidence suggests a strict correlation between sudden sensorineural hearing loss (SSNHL) and cerebrovascular disorders. Leukoaraiosis represents a diffuse alteration of the periventricular and subcortical white matter. The aim of our study was to verify if the presence of white matter hyperintensity (WMH) was higher in patients affected by SSNHL compared to controls and evaluate the correlation between WMH and the cardiovascular risk factors, hearing level, and the response to therapy in SSNHL patients. The study group included 36 subjects affected by unilateral SSNHL. Thirty-six age- and sex-matched normal subjects with a negative history of SSNHL were used as controls. All patients underwent magnetic resonance imaging (MRI) (1.5 Tesla GE Signa) and the extent of leukoaraiosis was assessed with the Fazekas scale. The results of the present study demonstrate a high prevalence of WMH in SSNHL patients compared to controls confirming the hypothesis of a vascular impairment in SSNHL patients. The higher recovery rate in patients with greater periventricular white matter hyperintensity (PWMH) may suggest a vascular etiology that is still responsive to medical treatment. We aim to expand both the number of patients and the controls to avoid the limitation of the still small number to warrant solid scientific conclusions.

Rationale: Children with unilateral deafness could have concurrent vestibular dysfunction which would be associated with balance deficits and potentially impair overall development. The prevalence of vestibular and balance deficits remains to be defined in these children., Methods: Twenty children with unilateral deafness underwent comprehensive vestibular and balance evaluation., Results: Retrospective review revealed that more than half of the cohort demonstrated some abnormality of the vestibular end organs (otoliths and horizontal canal), with the prevalence of end organ specific dysfunction ranging from 17 to 48% depending on organ tested and method used. In most children, impairment occurred only on the deaf side. Children with unilateral deafness also displayed significantly poorer balance function than their normal hearing peers., Conclusions: The prevalence of vestibular dysfunction in children with unilateral deafness is high and similar to that of children with bilateral deafness. Vestibular and balance evaluation should be routine and the functional impact of combined vestibulo-cochlear sensory deficits considered., (Copyright © 2018 Elsevier B.V. All rights reserved.)

DOOR syndrome is an extremely rare genetic disorder. "DOOR″ is an acronym to describe the combination of: deafness, onychodystrophy, osteodystrophy and mental retardation. We present a patient, with all of the above-mentioned main symptoms, that was rehabilitated with convencional hearing aids. The presented case suggested that every case of deafness and abnormal nails and phalanges in the hands and feet should have a clinical diagnosis of possible DOOR syndrome. Based on embryological process, congenital abnormal nails or phalanges highlights the importance for detailed hearing screening., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Objective: To evaluate the association between benign paroxysmal positional vertigo (BPPV) and sudden sensorineural hearing loss (SSNHL) using a national sample cohort from Korea., Methods: Data from the years 2002 through 2013 were collected for individuals aged more than or equal to 20 years from the Korean National Health Insurance Service-National Sample Cohort. SSNHL was classified based on the International Classification of Disease-10 (ICD-10) code H91.2. We included only participants who received an audiometry examination and steroid treatment. After exclusion of participants diagnosed with Menière's disease (H81.0), we extracted data for SSNHL patients (n = 4,109) and 1:4-matched controls (n = 16,436). Matching was performed based on age, sex, income, region of residence, and medical history. BPPV was diagnosed with the ICD-10 code H81.1. Among them, we only included the participants who visit more than or equal to two times for BPPV that does not mean recurrent BPPV. The crude and adjusted hazard ratios (HRs) were calculated using Cox proportional hazard models, and the 95% confidence intervals (CIs) were determined. Subgroup analyses were also performed according to age and sex., Results: The rate of BPPV in the SSNHL group (3.8% [157/4,109]) was higher than that in the control group (1.9% [220/16,436], p < 0.001). The adjusted HR of BPPV was 2.90 (95% CI = 2.36-3.56, p < 0.05). After experiencing SSNHL, the rate of BPPV in the SSNHL group was significantly higher for patients with two, three to four, and more than or equal to five visits for BPPV. In the subgroup analyses, a significant association between SSNHL and BPPV was observed regardless of age and sex., Conclusion: The risk of BPPV is greater in patients with SSNHL.

Competing Interests: Competing interests: None declared.

Introduction:  A 28-year-old man presented with a history of sensorineural deafness since early childhood treated with bilateral cochlear implants (CIs). He showed signs of debilitating dystonia that had been present since puberty. Dystonic symptoms, especially a protrusion of the tongue and bilateral hand tremor, had not responded to botulinum toxin therapy. We diagnosed Mohr-Tranebjaerg syndrome (MTS)., Methods and Material:  Deep brain stimulation (DBS) of the bilateral globus pallidus internus was performed predominantly with stereotaxic computed tomography angiography guidance under general anesthesia. Electrophysiology was used to identify the target regions and to guide DBS electrode placement., Results:  In the immediate postoperative course and stimulation, the patient showed marked improvement of facial, extremity, and cervical dystonia. More than 2 years after implantation, his dystonic symptoms had dramatically improved by 82%., Discussion:  MTS is a rare genetic disorder leading to sensorineural deafness, dystonia, and other symptoms. The use of DBS for the dystonia in MTS was previously described but not in the presence of bilateral CIs., Conclusion:  DBS in MTS may be a viable option to treat debilitating dystonic symptoms. We describe successful DBS surgery, despite the presence of bilateral CIs, and stimulation therapy over 2 years., Competing Interests: None., (Georg Thieme Verlag KG Stuttgart · New York.)

Objective: Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder associated with auditory neuropathy (AN). The decision process for CI in AN is evolving with increasing evidence of efficacy. We evaluated the benefit of CI in children with BVVL syndrome., Methods: A retrospective study reviewed the pre- and post-operative hearing outcomes of three patients with BVVL who presented for CI. A fourth patient with BVVL who was not suitable for CI is also discussed. The primary outcomes were hearing thresholds and auditory perception. Outcome measurement instruments included visual reinforcement audiometry (VRA) or Play Audiometry (PA), Categories of Auditory Performance (CAP) and Auditory Speech Sound Evaluation (ASSE). Secondary outcomes were parental report (BAPP questionnaire), the perception of our SaLT and compliance., Results: Patient 1 had ASSE levels of 40-45 dB HL 1 year post-operatively, and CAP score had improved from 2 to 5. At 2-year review, aided thresholds were 40 dB at 2-4 kHz. Three months following CI, the CAP score of Patient 2 had improved from 3 to 5. At 6 months, thresholds were 25-30 dB at 2-4 kHz. Single words/phrases are used by both patients and benefit is reported by both families. Patient 3 has recently undergone CI, having been previously rejected at another centre. Three months following CI, his thresholds were 35-40 dB at 2-4 kHz and increased use of sign and vocalization is reported., Conclusion: CI in children with AN complicating BVVL has a variable, but a positive effect. Other manifestations of BVVL make measuring benefit challenging, in the absence of a 'bespoke' measurement instrument for children with complex needs. This study provides further evidence for the benefit of CI in children with AN.

Ciliopathies-are widely recognized and associated with a wide variety of developmental and degenerative disorders. Most cilia-related diseases have renal manifestation, and there is a cross- overlapping relationship between gene mutations and cilia disease. Here, we investigated the clinical and pathological manifestation of a rare disease patient. We present the case of a 15-year-old child with dysplasia and multiple-organ damage who was initially diagnosed with nephrotic syndrome. The patient's kidney disease progressed to renal failure and received hemodialysis 10 months after renal biopsy. The individual presented primary ciliary dyskinesia (PCD) and additional symptoms including sensorineural deafness, kidney dysplasia, severe kidney function loss, and congenital heart disease which potentially linked to primary cilia deficiency. Cilia immunofluorescence of renal tissue showed a decrease in the number of cilium of the patient compared to the normal kidney. We identified a site mutation in CCDC114 (NM&#95;144577 exon7 c. 596Cå T p. Ala199Val) by whole-exon sequences. We found that CCDC114 located at the basal body at cilia and the knockdown of CCDC114 could affect the occurrence of cilia in hRPE1 cells. The previous study of CCDC114 mainly lies in the motile cilia, and this study found that its impact on primary cilia thus broadened the understanding of overlapping function of different types of cilia.

Objective: Health care disparities are noted between different socioeconomic groups; it is crucial to recognize and correct disparities, if present, that extend to children with hearing loss. The objective of the study is to evaluate the effect of socioeconomic status (SES) on access to hearing rehabilitation and speech and language therapy and outcomes in children with hearing loss., Methods: Retrospective Chart Review of children diagnosed with hearing loss at 3 tertiary care academic centers from 2010 to 2012. Two hundred patients were then randomly selected from each institution for analysis. International and self-pay patients were excluded. They were separated into two groups based on SES using insurance coverage as proxy for financial status (private insurance versus Medicaid). Main outcome measures included number of hearing aid evaluations recommended andcompleted, compliance with hearing aids use, diagnosis on speech therapy evaluations, participation in speech therapy, and outcomes noted on the last speech therapy session in patients' medical record at time of study completion., Results: 600 patients were identified by random selection out of total of 3679 patients. 18 were excluded because they were international pay or self-pay. Of 582 patients, 299 (51.4%) had private insurance and 283 (48.6%) had Medicaid. The pure tone average (PTA) at initial diagnosis did not differ between the two populations (left ear p = 0.74, right ear p = 0.68). There was no significant difference in the number of hearing aid evaluations recommended (p = 0.49), hearing aid evaluation completed (p = 0.68), or documented hearing aid compliance (p = 0.68) between the two populations. Similarly, there was no significant difference in the presence of speech delay (p = 0.62), the receipt of speech therapy (p = 0.49), or speech language outcomes between the two groups (p = 0.45)., Conclusions: This study suggests that despite lower socioeconomic status, in children with hearing loss, Medicaid allows equivalent access to hearing rehabilitation and speech therapy as their privately insured counterparts and children achieve similar speech and language outcomes., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Objective: To evaluate the balance skills and falling risk in children with a congenital bilateral profound sensorineural hearing loss (CBPSNHL)., Methods: 25 children with CBPSNHL and healthy 25 children with similar age and gender were included in the study. The flamingo balance test, the tandem stance test, and the one-leg standing test were performed to assess the patients' static balance skills. The pediatric balance scale (PBS) was used to evaluate the dynamic balance. Visual analog scale (VAS) was applied to the patients assess the frequency of falls., Results: The flamingo balance test, the tandem stance test, and the one-leg standing test in the children with CBPSNHL were all significantly worse than the control group. Although the scores of PBS in patients with CBPSNHL were significantly lower than the control group (p < 0.001), the results of both groups were consistent with a low risk of falls. There was no significant difference between the VAS scores indicating the frequency of falls among the groups (p = 0.552)., Conclusion: Static and dynamic balance skills of the children with CBPSNHL are significantly impaired compared to their healthy peers. Children with CBPSNHL also have a lower risk of falling just like their healthy peers and there is no significant difference between their falling frequencies. Balance skills of children with CBPSNHL can be assessed quickly and effectively on a hard floor (eyes closed), with a tandem standing test or a one-leg standing test., (Copyright © 2018 Elsevier B.V. All rights reserved.)