1
40
3
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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
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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
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/ana.410340107" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.410340107</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
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations
Publisher
An entity responsible for making the resource available
Annals Of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
1993
Subject
The topic of the resource
Child; Female; Humans; Male; Molecular Sequence Data; Preschool; infant; Q3 Literature Search; Tomography; X-Ray Computed; Base Sequence; Capillaries/pathology; DNA/analysis; Electron; MELAS Syndrome/genetics/pathology/radiography; Microscopy; Mitochondria/pathology; Muscles/pathology
Creator
An entity primarily responsible for making the resource
Koo B; Becker LE; Chuang S; Merante F; Robinson BH; MacGregor D; Tein I; Ho VB; McGreal DA; Wherrett JR
Description
An account of the resource
We reviewed 10 patients (5 males, 5 females) with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The age of symptom onset ranged from 3 months to 12 years. All had lactic acidosis, multiple stroke-like events with secondary neurological deficits, radiological changes of progressive brain infarction, and muscle biopsy showing ragged-red fibers. In patients with earlier onset of symptoms (< 2 yr), involvement tended to be more diffuse, with failure to thrive and early onset of delayed development. Patients whose symptoms appeared later tended to have focal neurological deficits with migraine-like headache, and a rate of cognitive regression reflecting the rapidity of disease progression. Radiological changes included multiple areas of infarction with initial predilection for parietal occipital areas, progressing to generalized atrophy. Pathological findings in muscle biopsies included type 1 fiber predominance, ragged-red fibers, increased intermyofibrillar lipid deposition, and abnormal mitochondria. Four patients showed mitochondrial DNA tRNA mutation at position 3,243. No difference was noted in clinical, radiological, or pathological findings in patients with and without this mutation, suggesting that multiple sites of point mutation may give rise to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
1993
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ana.410340107" target="_blank" rel="noreferrer">10.1002/ana.410340107</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
1993
Annals Of Neurology
Backlog
Base Sequence
Becker LE
Capillaries/pathology
Child
Chuang S
DNA/analysis
Electron
Female
Ho VB
Humans
Infant
Journal Article
Koo B
MacGregor D
Male
McGreal DA
MELAS Syndrome/genetics/pathology/radiography
Merante F
Microscopy
Mitochondria/pathology
Molecular Sequence Data
Muscles/pathology
Preschool
Q3 Scoping Review Results
Robinson BH
Tein I
Tomography
Wherrett JR
X-Ray Computed
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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/10.1086/318197" target="_blank" rel="noreferrer">http://doi.org/10.1086/318197</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
A Genomewide Linkage-Disequilibrium Scan Localizes the Saguenay -Lac-Saint-Jean Cytochrome Oxidase Deficiency to 2p16
Publisher
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American Journal Of Human Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2001
Subject
The topic of the resource
Female; Humans; Male; Mutation; Family Health; Gene Frequency; Molecular Sequence Data; DNA Mutational Analysis; DNA/chemistry/genetics; Pedigree; Chromosomes; Human; Base Sequence; Disease Specific; Chromosome Mapping; Cytochrome-c Oxidase Deficiency; Electron Transport Complex IV/genetics; Genes/genetics; Genome; Haplotypes; Leigh Disease/enzymology/genetics; Linkage Disequilibrium; Microsatellite Repeats; Pair 2/genetics; Polymorphism; Single Nucleotide
Creator
An entity primarily responsible for making the resource
Lee N; Daly MJ; Delmonte T; Lander ES; Xu F; Hudson TJ; Mitchell GA; Morin CC; Robinson BH; Rioux JD
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1086/318197" target="_blank" rel="noreferrer">10.1086/318197</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
Description
An account of the resource
2001
2001
American Journal Of Human Genetics
Backlog
Base Sequence
Chromosome Mapping
Chromosomes
Cytochrome-c Oxidase Deficiency
Daly MJ
Delmonte T
Disease Specific
DNA Mutational Analysis
DNA/chemistry/genetics
Electron Transport Complex IV/genetics
Family Health
Female
Gene Frequency
Genes/genetics
Genome
Haplotypes
Hudson TJ
Human
Humans
Journal Article
Lander ES
Lee N
Leigh Disease/enzymology/genetics
Linkage Disequilibrium
Male
Microsatellite Repeats
Mitchell GA
Molecular Sequence Data
Morin CC
Mutation
Pair 2/genetics
Pedigree
Polymorphism
Rioux JD
Robinson BH
Single Nucleotide
Xu F