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Dublin Core
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Title
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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URL Address
<a href="http://doi.org/10.1002/ajmg.a.33902" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.33902</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI
Publisher
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American Journal of Medical Genetics Part A
Date
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2011
Subject
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clinical feature; priority journal; preschool child; cross-sectional study; prospective study; human; article; child; female; male; controlled study; clinical article; prevalence; disease severity; pulmonary hypertension; polysomnography; disease association; anamnesis; apnea; Doppler echocardiography; Glycosaminoglycans; Lysosomal storage diseases; lysosome storage disease; macroglossia; Maroteaux Lamy syndrome; Morquio syndrome; Mucopolysaccharidosis; oxygen saturation; oxygen/ec [Endogenous Compound]; physical examination; pigeon thorax; Sleep apnea; sleep apnea syndrome/di [Diagnosis]; sleep disorder; snoring; breathing difficulties; MPSVI; trajectory; characteristics; witnessed apnea
Creator
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John A; Fagondes S; Schwartz I; Azevedo A C; Barrios P; Dalcin P; Menna-Barreto S; Giugliani R
Description
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Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease that affects an enzyme responsible for the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate in several tissues, such as the upper airways (UA), which leads to the development of obstructive sleep apnea (OSA). Our objective was to determine the prevalence of OSA in a group of untreated patients with MPS VI and the association of OSA with clinical and echocardiographic findings. Patients aged 4 years or older with a biochemical diagnosis of MPS VI were included. Data about clinical history, physical examination, Doppler echocardiogram, and overnight polysomnography (PSG) were collected. Our results showed that of the 28 participants, 14 were boys; mean age was 98.5 months, and mean age at MPS VI diagnosis was 48.4 months. Snoring, witnessed apnea, pectus carinatum, and macroglossia were the main clinical findings. PSG results showed that 23:27 patients (85.1%) had OSA which was mild in 4, moderate in 5, and severe in 14 patients. Echocardiograms showed evidence of pulmonary hypertension (PH) in 14 patients. Lower (P=0.037) and nadir SpO<inf>2</inf> (P=0.007) were positively associated with PH. Clinical signs suggestive of respiratory abnormalities during sleep were not significantly correlated with the results of PSG. We conclude that the prevalence of OSA in patients with MPS VI was high, and the level of desaturation was positively correlated with PH. Symptoms during sleep were not associated with PSG findings, which suggests that this population should undergo routine PSG as earlier as possible. This study provides baseline data to estimate the potential impact of specific treatments in the sleep abnormalities presented by patients with MPS VI. © 2011 Wiley-Liss, Inc.
Identifier
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<a href="http://doi.org/10.1002/ajmg.a.33902" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.33902</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2011
American Journal of Medical Genetics Part A
anamnesis
apnea
Article
Azevedo A C
Barrios P
breathing difficulties
characteristics
Child
Clinical Article
Clinical Feature
Controlled Study
Cross-sectional Study
Dalcin P
disease association
Disease Severity
Doppler echocardiography
Fagondes S
Female
Giugliani R
Glycosaminoglycans
Human
John A
Lysosomal storage diseases
lysosome storage disease
macroglossia
Male
Maroteaux Lamy syndrome
Menna-Barreto S
Morquio syndrome
MPSVI
Mucopolysaccharidosis
oxygen saturation
oxygen/ec [Endogenous Compound]
physical examination
pigeon thorax
Polysomnography
Preschool Child
Prevalence
Priority Journal
Prospective Study
pulmonary hypertension
Schwartz I
Sleep apnea
sleep apnea syndrome/di [Diagnosis]
sleep disorder
snoring
Trajectory
witnessed apnea