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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
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
An entity responsible for making the resource available
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
-
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/10.1542/peds.112.2.332" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.112.2.332</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
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
Publisher
An entity responsible for making the resource available
Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Humans; infant; Disease Progression; Mutation; Survival Analysis; Child Development; infant; Premature; AIM; IM; Blood Chemical Analysis; alpha-Glucosidases/ge [Genetics]; alpha-Glucosidases/me [Metabolism]; Brain/pa [Pathology]; Cardiomegaly/di [Diagnosis]; Cardiomegaly/et [Etiology]; Glycogen Storage Disease Type II/co [Complications]; Glycogen Storage Disease Type II/mo [Mortality]; Glycogen Storage Disease Type II/pp [Physiopathology]; Netherlands/ep [Epidemiology]; Newborn/gd [Growth & Development]
Creator
An entity primarily responsible for making the resource
van den Hout HM; Hop W; van Diggelen OP; Smeitink JA; Smit GP; Poll-The BT; Bakker HD; Loonen MC; de Klerk JB; Reuser AJ; Van der Ploeg AT
Description
An account of the resource
OBJECTIVE: Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. METHODS: A total of 20 infantile patients diagnosed by the collaborative Dutch centers and 133 cases reported in literature were included in the study. Information on clinical history, physical examination, and diagnostic parameters was collected. RESULTS: The course of Pompe's disease is essentially the same in the Dutch and the general patient population. Symptoms start at a median age of 1.6 months in both groups. The median age of death is 7.7 and 6 months, respectively. Five percent of the Dutch patients and 8% of all reported patients survive beyond 1 year of age. Only 2 patients from literature became older than 18 months. A progressive cardiac hypertrophy is characteristic for infantile Pompe's disease. The diastolic thickness of the left ventricular posterior wall and cardiac weight at autopsy increase significantly with age. Motor development is severely delayed and major developmental milestones are generally not achieved. For the Dutch patient group, growth deviates significantly from normal despite start of nasogastric tube feeding. Levels of aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, creatine kinase, or creatine kinase-myocardial band isoenzyme are typically elevated, although aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase increase significantly with age. The patients have fully deleterious mutations. Acid alpha-glucosidase activity is severely deficient. CONCLUSIONS: Survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies of infantile Pompe's disease. Mutation analysis and measurement of the alpha-glucosidase activity should be part of the enrollment program. [References: 111]
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.112.2.332" target="_blank" rel="noreferrer">10.1542/peds.112.2.332</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).
Type
The nature or genre of the resource
Journal Article
2003
AIM
alpha-Glucosidases/ge [Genetics]
alpha-Glucosidases/me [Metabolism]
Backlog
Bakker HD
Blood Chemical Analysis
Brain/pa [Pathology]
Cardiomegaly/di [Diagnosis]
Cardiomegaly/et [Etiology]
Child Development
de Klerk JB
Disease Progression
Glycogen Storage Disease Type II/co [Complications]
Glycogen Storage Disease Type II/mo [Mortality]
Glycogen Storage Disease Type II/pp [Physiopathology]
Hop W
Humans
IM
Infant
Journal Article
Loonen MC
Mutation
Netherlands/ep [Epidemiology]
Newborn/gd [Growth & Development]
Pediatrics
Poll-The BT
Premature
Reuser AJ
Smeitink JA
Smit GP
Survival Analysis
van den Hout HM
Van der Ploeg AT
van Diggelen OP