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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/10.1542/peds.2006-1866" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.2006-1866</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
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases
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
2007
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Cohort Studies; Follow-Up Studies; Severity of Illness Index; Survival Analysis; Longitudinal Studies; Probability; Time Factors; Proportional Hazards Models; Preschool; infant; Q3 Literature Search; Newborn; AIM; IM; retrospective studies; cause of death; DNA; Mitochondrial Diseases/ge [Genetics]; Mitochondrial/ge [Genetics]; MELAS Syndrome/di [Diagnosis]; Mitochondrial Encephalomyopathies/di [Diagnosis]; DNA Fragmentation; HEREDITARY; Leber/di [Diagnosis]; Leber/ge [Genetics]; Leber/mo [Mortality]; MELAS Syndrome/mo [Mortality]; MELAS Syndrome/th [Therapy]; Mitochondrial Diseases/di [Diagnosis]; Mitochondrial Diseases/mo [Mortality]; Mitochondrial Encephalomyopathies/mo [Mortality]; Mitochondrial Encephalomyopathies/th [Therapy]; Mitochondrial Myopathies/di [Diagnosis]; Mitochondrial Myopathies/ge [Genetics]; Mitochondrial Myopathies/mo [Mortality]; Optic Atrophy
Creator
An entity primarily responsible for making the resource
Debray FG; Lambert M; Chevalier I; Robitaille Y; Decarie JC; Shoubridge EA; Robinson BH; Mitchell GA
Description
An account of the resource
OBJECTIVES: We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial diseases and to identify prognostic factors. METHODS: Medical charts were reviewed for 73 children diagnosed between 1985 and 2005. The functional status of living patients was assessed prospectively by using the standardized Functional Independence Measure scales. RESULTS: Patients fell into 7 phenotypic categories: neonatal-onset lactic acidosis (10%), Leigh syndrome (18%), nonspecific encephalopathy (32%), mitochondrial (encephalo)myopathy (19%), intermittent neurologic (5%), visceral (11%), and Leber hereditary optic neuropathy (5%). Age at first symptoms ranged from prenatal to 16 years (median: 7 months). Neurologic symptoms were the most common (90%). Visceral involvement was observed in 29% of the patients. A biochemical or molecular diagnosis was identified for 81% of the patients as follows: deficiency of complex IV (27%), of pyruvate dehydrogenase or complex I (25% each), of multiple complexes (13%), and of pyruvate carboxylase (5%) or complexes II+III (5%). A mitochondrial DNA mutation was found in 20% of patients. At present, 46% of patients have died (median age: 13 months), 80% of whom were 5 years (n = 32), 62% had Functional Independence Measure quotients of >0.75. CONCLUSIONS: Mitochondrial diseases in children span a wide range of symptoms and severities. Age at first symptoms is the strongest predictor mortality. Despite a high mortality rate in the cohort, 62% of patients aged >5 years have only mild impairment or normal functional outcome.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.2006-1866" target="_blank" rel="noreferrer">10.1542/peds.2006-1866</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
2007
AIM
Backlog
Cause Of Death
Chevalier I
Child
Cohort Studies
Debray FG
Decarie JC
DNA
DNA Fragmentation
Female
Follow-up Studies
HEREDITARY
Humans
IM
Infant
Journal Article
Lambert M
Leber/di [Diagnosis]
Leber/ge [Genetics]
Leber/mo [Mortality]
Longitudinal Studies
Male
MELAS Syndrome/di [Diagnosis]
MELAS Syndrome/mo [Mortality]
MELAS Syndrome/th [Therapy]
Mitchell GA
Mitochondrial Diseases/di [Diagnosis]
Mitochondrial Diseases/ge [Genetics]
Mitochondrial Diseases/mo [Mortality]
Mitochondrial Encephalomyopathies/di [Diagnosis]
Mitochondrial Encephalomyopathies/mo [Mortality]
Mitochondrial Encephalomyopathies/th [therapy]
Mitochondrial Myopathies/di [Diagnosis]
Mitochondrial Myopathies/ge [Genetics]
Mitochondrial Myopathies/mo [Mortality]
Mitochondrial/ge [Genetics]
Newborn
Optic Atrophy
Pediatrics
Preschool
Probability
Proportional Hazards Models
Q3 Scoping Review Results
Retrospective Studies
Robinson BH
Robitaille Y
Severity Of Illness Index
Shoubridge EA
Survival Analysis
Time Factors
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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/10.1002/mus.10507" target="_blank" rel="noreferrer">http://doi.org/10.1002/mus.10507</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
Prevalence and progression of mitochondrial diseases: a study of 50 patients
Publisher
An entity responsible for making the resource available
Muscle & Nerve
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Female; Humans; Male; Adult; Aged; Middle Aged; Disease Progression; Survival Analysis; Phenotype; adolescent; IM; Age of Onset; Electromyography; Chronic Progressive External/ep [Epidemiology]; Chronic Progressive External/ge [Genetics]; Chronic Progressive External/pa [Pathology]; DNA; Epilepsies; Lactic Acid/bl [Blood]; MELAS Syndrome/ep [Epidemiology]; MELAS Syndrome/ge [Genetics]; MELAS Syndrome/pa [Pathology]; Mitochondrial Diseases/ep [Epidemiology]; Mitochondrial Diseases/ge [Genetics]; Mitochondrial Diseases/pa [Pathology]; Mitochondrial/ge [Genetics]; Muscle; Myoclonic/ep [Epidemiology]; Myoclonic/ge [Genetics]; Myoclonic/pa [Pathology]; Neural Conduction/ph [Physiology]; Ophthalmoplegia; Skeletal/pa [Pathology]; Spain/ep [Epidemiology]
Creator
An entity primarily responsible for making the resource
Arpa J; Cruz-Martinez A; Campos Y; Gutierrez-Molina M; Garcia-Rio F; Perez-Conde C; Martin MA; Rubio JC; Del Hoyo P; Arpa-Fernandez A; Arenas J
Description
An account of the resource
We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed a large variety of abnormalities in molecular biology and biochemistry. The prevalence of mitochondrial diseases was found to be 5.7 per 100,000 in the population over 14 years of age. Clinical and electrophysiological assessment reveal signs of neuropathy in 10 patients. Electromyographic findings consistent with myopathy were obtained in 37 cases. Six patients died of medical complications. Disease phenotype influenced survival to some degree (P < 0.01). Age of onset and gender were not associated with differences in survival. Mitochondrial disease is thus far more common than expected and a common cause of chronic morbidity.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/mus.10507" target="_blank" rel="noreferrer">10.1002/mus.10507</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
Adolescent
Adult
Age of Onset
Aged
Arenas J
Arpa J
Arpa-Fernandez A
Backlog
Campos Y
Chronic Progressive External/ep [Epidemiology]
Chronic Progressive External/ge [Genetics]
Chronic Progressive External/pa [Pathology]
Cruz-Martinez A
Del Hoyo P
Disease Progression
DNA
Electromyography
Epilepsies
Female
Garcia-Rio F
Gutierrez-Molina M
Humans
IM
Journal Article
Lactic Acid/bl [Blood]
Male
Martin MA
MELAS Syndrome/ep [Epidemiology]
MELAS Syndrome/ge [Genetics]
MELAS Syndrome/pa [Pathology]
Middle Aged
Mitochondrial Diseases/ep [Epidemiology]
Mitochondrial Diseases/ge [Genetics]
Mitochondrial Diseases/pa [Pathology]
Mitochondrial/ge [Genetics]
Muscle
Muscle & Nerve
Myoclonic/ep [Epidemiology]
Myoclonic/ge [Genetics]
Myoclonic/pa [Pathology]
Neural Conduction/ph [Physiology]
Ophthalmoplegia
Perez-Conde C
Phenotype
Rubio JC
Skeletal/pa [Pathology]
Spain/ep [Epidemiology]
Survival Analysis