Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses

Lin, Hsiang‐Yu; Shih, Shou-Chuan; Chen, Chuang; Lee, Kuo‐Sheng; Chen, Ming–Ren; Lin, Hung-Ching; Chiu, Pao Chin; Niu, Dau‐Ming; Lin, Shuan‐Pei

doi:10.1016/j.ymgme.2014.02.003

Cited by 40 publications

(51 citation statements)

References 14 publications

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“…The low incidence of individuals with normal auditory thresholds and without involvement of the ossicular-tympanic system agrees with the literature 21,23.…”

Section: Discussionsupporting

confidence: 91%

“…Of the total number of ears, 102 presented hearing loss, most of them (96%) with conductive impairment (Table 2) in the form of either conductive or mixed hearing loss, corroborating a study that observed a high prevalence of hearing loss (85%) of different types and degrees of severity in 39 patients with MPS who underwent threshold tonal audiometry (TTA) 23.…”

Section: Discussionsupporting

confidence: 77%

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Audiometric evaluation in individuals with mucopolysaccharidosis

Silveira¹,

Buriti²,

Martins³

et al. 2018

Clinics

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OBJECTIVES:To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis.METHOD:Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hurler-Scheie and Scheie syndrome), type II (Hunter syndrome), type III (Sanfilippo syndrome), type IV (Morquio syndrome), and type VI (Maroteaux-Lamy syndrome). Immittance audiometry and play or conventional threshold tone audiometry were used to obtain auditory thresholds and were chosen according to the patient's chronological age and ability to understand/respond to the procedure. The findings were analyzed using descriptive statistics and considering the recommendations for research involving human beings contained in Resolution CNE N° 466/2012.RESULTS:Fifty-one subjects (96.2%) had hearing loss, and the conductive type was the most frequent. Only two (3.8%) patients presented bilateral thresholds within normal limits, one with type IV mucopolysaccharidosis and the other with type VI. There were 11 individuals (20.8%) with mucopolysaccharidosis type I with mixed hearing loss, 9 (16.9%) individuals with type I with conductive hearing loss and 9 (16.9%) with type VI with conductive hearing loss. Mild hearing loss was most common (37.3%), followed by moderately severe hearing loss (36.3%). The type B tympanometric curve (80.4%) was the most frequent.CONCLUSIONS:Most of the individuals with mucopolysaccharidosis types I, II, III, IV and VI presented mixed or conductive hearing losses of mild to moderately severe degree, type B tympanograms and an absence of contralateral acoustic reflexes.

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“…The low incidence of individuals with normal auditory thresholds and without involvement of the ossicular-tympanic system agrees with the literature 21,23.…”

Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 77%

Audiometric evaluation in individuals with mucopolysaccharidosis

Silveira¹,

Buriti²,

Martins³

et al. 2018

Clinics

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show abstract

“…The clinical manifestations in these patients include coarse facial features, organomegaly, developmental delay, short stature, and skeletal deformities (dysostosis multiplex). In addition, vision and hearing conditions, airway obstruction, abnormal cardiovascular function, pulmonary function, bone mineral density, and joint mobility have also been reported (Lin et al, ; Lin et al, ; Lin et al, ; Lin, Chen, Lin, et al, ; Lin, Lin, Chuang, Lin, & Chen, ; Muenzer, ). The clinical manifestations may present from early to late childhood or even in early adulthood depending on the severity and type of MPS.…”

Section: Introductionmentioning

confidence: 95%

The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses

Lin

Lee

et al. 2018

Molec Gen & Gen Med

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BackgroundThe aim of this study was to use the liquid chromatography/tandem mass spectrometry (LC‐MS/MS) method to quantitate levels of three urinary glycosaminoglycans (GAGs; dermatan sulfate [DS], heparan sulfate [HS], and keratan sulfate [KS]) to help make a correct diagnosis of mucopolysaccharidosis (MPS).MethodsWe analyzed the relationships between phenotypes and levels of urinary GAGs of 79 patients with different types of MPS.ResultsThe patients with mental retardation (n = 21) had significantly higher levels of HS than those without mental retardation (n = 58; 328.8 vs. 3.2 μg/ml, p < 0.001). The DS levels in the patients with hernia, hepatosplenomegaly, claw hands, coarse face, valvular heart disease, and joint stiffness were higher than those without. Twenty patients received enzyme replacement therapy (ERT) for 1–12.3 years. After ERT, the KS level decreased by 90% in the patients with MPS IVA compared to a 31% decrease in the change of dimethylmethylene blue (DMB) ratio. The DS level decreased by 79% after ERT in the patients with MPS VI compared to a 66% decrease in the change of DMB ratio.ConclusionsThe measurement of GAG fractionation biomarkers using the LC‐MS/MS method is a more sensitive and reliable tool than the DMB ratio for MPS high‐risk screening, diagnosis, subclass identification, and monitoring the efficacy of ERT.

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“…MPS patients present with many distinct clinical features, including organomegaly, developmental delay, dysmorphic facial features, skeletal dysplasia (dysostosis multiplex), and growth retardation. In addition, hearing [5], vision (mostly with corneal clouding), pulmonary and cardiovascular function [6,7], bone mineral density [8], and joint mobility are also affected. The MPS clinical features may present from birth to late childhood or even in early adulthood, depending on the severity of the MPS type.…”

Section: Introductionmentioning

confidence: 99%

A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses

Chen

Lin

Wang

et al. 2014

Orphanet J Rare Dis

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BackgroundThe identification of acid mucopolysaccharide by the liquid chromatography/tandem mass spectrometry method (LC-MS/MS) of the predominant disaccharide units of glycosaminoglycans (GAGs) (chondroitin sulfate, CS; dermatan sulfate, DS; heparan sulfate, HS) after methanolysis is validated and applicable for mucopolysaccharidosis (MPS) type determination.MethodsA total of 76 urine samples were collected and analyzed, from nine MPS I patients, 13 MPS II patients, seven MPS III patients, eight MPS VI patients, and 39 normal controls. Urinary GAG was first precipitated by the Alcian blue method followed by a treatment of 3 N HCl methanol. The protonated species of the methylated disaccharide products were detected by using a multiple reaction monitoring experiment. Internal standards, [2H6] CS, [2H6] DS and [2H6] HS, were prepared in-house by deuteriomethanolysis of CS, DS and HS.ResultsOne particular disaccharide for each GAG was selected, in which the parent ion and its daughter ion after collision were m/z 426.1 → 236.2 for DS (m/z 432 → 239 for dimers derived from [2H6] CS and [2H6] DS) and m/z 384.2 → 161.9 for HS (m/z 390.4 → 162.5 for the [2H6] HS dimer). The quantities of DS and HS were determined, which varied from one MPS type to the other. The results can be used to evaluate the severity of MPS subgroups, as well as urinary GAG amelioration at follow-up after enzyme replacement therapy (ERT).ConclusionsThe modified LC–MS/MS method for MPS type determination is specific, sensitive, validated, accurate, and applicable for simultaneous quantifications of urinary DS and HS. This method can help to make correct diagnosis of MPS patients and evaluate the effectiveness of ERT.

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Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses

Cited by 40 publications

References 14 publications

Audiometric evaluation in individuals with mucopolysaccharidosis

Audiometric evaluation in individuals with mucopolysaccharidosis

The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses

A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses

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