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40
2
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/j.nmd.2007.06.002" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.nmd.2007.06.002</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
A name given to the resource
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
Publisher
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Neuromuscular Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Middle Aged; Disease Progression; Longitudinal Studies; adolescent; Preschool; Q3 Literature Search; retrospective studies; Age of Onset; Electromyography; Glycogen Storage Disease Type II/diagnosis/physiopathology; Limb-Girdle; Muscle Weakness; Muscular Dystrophies; Respiration Disorders/etiology
Creator
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Mueller-Felber W; Horvath R; Gempel K; Podskarbi T; Shin Y; Pongratz D; Walter MC; Baethmann M; Schlotter-Weigel B; Lochmuller H; Schoser B
Description
An account of the resource
To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during 1985 and 2006 are described in detail. The mean delay from onset of symptoms or first medical consultation until diagnosis was 10.4 and 7.1 years, respectively. A different diagnosis was suggested in 11 of 38 patients. Ten patients underwent repeated muscle biopsies before diagnosis of Pompe disease was established. Limb girdle weakness was the most frequent presenting sign. Six patients complained of myalgia. Wolf-Parkinson-White syndrome was found in 3 of 38 patients. Respiratory failure preceded the onset of overt limb muscle weakness in three patients. The course of the patients was progressive in all, but there was a wide variety of progression, which did not correlate with the age of disease onset. In 71% of the patients, neurophysiological investigations revealed a myopathic EMG pattern, half of the patients had spontaneous activity including complex repetitive discharges. A normal EMG was found in 9% of the patients. Nerve conduction studies were normal in all. Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.nmd.2007.06.002" target="_blank" rel="noreferrer">10.1016/j.nmd.2007.06.002</a>
Rights
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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).
Type
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Journal Article
2007
Adolescent
Adult
Age of Onset
Backlog
Baethmann M
Child
Disease Progression
Electromyography
Female
Gempel K
Glycogen Storage Disease Type II/diagnosis/physiopathology
Horvath R
Humans
Journal Article
Limb-Girdle
Lochmuller H
Longitudinal Studies
Male
Middle Aged
Mueller-Felber W
Muscle Weakness
Muscular Dystrophies
Neuromuscular Disorders
Podskarbi T
Pongratz D
Preschool
Q3 Scoping Review Results
Respiration Disorders/etiology
Retrospective Studies
Schlotter-Weigel B
Schoser B
Shin Y
Walter MC
-
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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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1016/j.braindev.2008.03.007" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.braindev.2008.03.007</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
A name given to the resource
Sleep disordered breathing in childhood-onset acid maltase deficiency
Publisher
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Brain and Development
Date
A point or period of time associated with an event in the lifecycle of the resource
2009
Subject
The topic of the resource
Male; Child; Humans; Adolescent; Female; Retrospective Studies; Polysomnography; Positive-Pressure Respiration; Respiratory Function Tests; Muscle Weakness; Blood Gas Analysis; Quality of Life; Respiration; Glycogen Storage Disease Type II/pp [Physiopathology]; Sleep Apnea Syndromes/pp [Physiopathology]; Sleep Apnea Syndromes/th [Therapy]; Muscle Strength; Respiration Disorders/pp [Physiopathology]; Respiration Disorders/th [Therapy]; Sleep/ph [Physiology]; breathing difficulties; glycogen storage disease type II; physical intervention; non-invasive positive pressure ventilation; sleep apnea
Creator
An entity primarily responsible for making the resource
Nabatame S; Taniike M; Sakai N; Kato-Nishimura K; Mohri I; Kagitani-Shimono K; Okinaga T; Tachibana N; Ozono K
Description
An account of the resource
OBJECTIVES: To clarify the feature of sleep disordered breathing (SDB) associated with childhood-onset acid maltase deficiency (AMD): the progressive nature of SDB and the stage of AMD.;STUDY DESIGN: We retrospectively studied 4 patients with childhood-onset AMD by analyzing the results of neurological examinations for muscle wasting and muscle strength and the data on venous gas and from a pulmonary function test and nocturnal polysomnography (PSG).;RESULTS: Three out of the 4 patients showed muscular symptoms including myalgia, lordoscoliosis, muscle wasting and muscle weakness. They also complained of sleep-related symptoms such as tiredness in the morning and daytime sleepiness. All of them showed SDB by PSG, even in a patient in the earliest stage who exhibited no signs or symptoms of muscle weakness. In 3 patients, noninvasive intermittent positive pressure ventilation during sleep was introduced; and thereafter sleep-related symptoms were resolved and no lower respiratory infection reoccurred. Although their quality of life was improved, no improvement of respiratory function was shown by spirometry over a 2-year follow-up period.;CONCLUSIONS: SDB seems to be common in childhood-onset AMD, which is not always accompanied by daytime muscular symptoms, especially in mild patients. PSG should be utilized for detecting SDB, which could be one of the earliest signs of respiratory muscle involvement in childhood-onset AMD.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.braindev.2008.03.007" target="_blank" rel="noreferrer noopener">10.1016/j.braindev.2008.03.007</a>
Rights
Information about rights held in and over the resource
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).
2009
Adolescent
Blood Gas Analysis
Brain and Development
breathing difficulties
Child
Female
glycogen storage disease type II
Glycogen Storage Disease Type II/pp [Physiopathology]
Humans
Kagitani-Shimono K
Kato-Nishimura K
Male
Mohri I
Muscle Strength
Muscle Weakness
Nabatame S
non-invasive positive pressure ventilation
Okinaga T
Ozono K
physical intervention
Polysomnography
Positive-Pressure Respiration
Quality Of Life
Respiration
Respiration Disorders/pp [Physiopathology]
Respiration Disorders/th [Therapy]
Respiratory Function Tests
Retrospective Studies
Sakai N
Sleep apnea
Sleep Apnea Syndromes/pp [Physiopathology]
Sleep Apnea Syndromes/th [Therapy]
Sleep/ph [Physiology]
Tachibana N
Taniike M