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40
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Text
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URL Address
<a href="http://doi.org/10.1203/01.pdr.0000190572.68191.13" target="_blank" rel="noreferrer">http://doi.org/10.1203/01.pdr.0000190572.68191.13</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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Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency
Publisher
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Pediatric Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Prognosis; Mutation; adolescent; Preschool; infant; Q3 Literature Search; Newborn; DNA; Mitochondrial/genetics; Proteins/genetics; Sequence Deletion; Membrane Proteins; Mitochondrial Proteins; Carrier Proteins; Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality; Czech Republic; Poland; Slovakia
Creator
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Bohm M; Pronicka E; Karczmarewicz E; Pronicki M; Piekutowska-Abramczuk D; Sykut-Cegielska J; Mierzewska H; Hansikova H; Vesela K; Tesarova M; Houstkova H; Houstek J; Zeman J
Description
An account of the resource
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features, prognosis, and molecular bases of the COX deficiency. Clinical symptoms including failure to thrive, encephalopathy, hypotony, Leigh syndrome, cardiac involvement, and hepatopathy appeared in most patients early after birth or in early childhood. Two thirds of all children died. Biochemical examination revealed an isolated COX deficiency in 101 children and COX deficiency combined with disturbances of other respiratory chain complexes in 79 children. Blood and cerebrospinal fluid lactate increased in 85% and 81% of examined cases, respectively. Pathogenic mutations in mitochondrial or nuclear DNA were established in 75 patients. Mutations in surfeit locus protein 1 gene (SURF1) were found in 47 children with Leigh syndrome; 2bp deletion 845-846delCT was found in 89% of independent alleles. Mutations in a mitochondrial copper-binding protein (SCO2) gene were found in nine children with encephalomyopathy and/or cardiomyopathy; all of them were homozygotes or heterozygotes for 1541G>A mutation. Different mitochondrial DNA (mtDNA) deletion or depletion were found in nine children, mtDNA mutation 3243A>G in six, mtDNA mutation 8363G>A in two children with Leigh syndrome and mtDNA mutations 8344A>G, and 9205-9206delTA in one child each. COX deficiency represents a heterogeneous group of diseases with unfavorable prognosis. Marked prevalence of two nuclear DNA mutations (845-846delCT in the SURF1 gene and 1541G>A in the SCO2 gene) associated with COX deficiency in a Slavonic population suggests the existence of regional differences in the genetic basis of COX deficiency.
2006
Identifier
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<a href="http://doi.org/10.1203/01.pdr.0000190572.68191.13" target="_blank" rel="noreferrer">10.1203/01.pdr.0000190572.68191.13</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
2006
Adolescent
Backlog
Bohm M
Carrier Proteins
Child
Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality
Czech Republic
DNA
Female
Hansikova H
Houstek J
Houstkova H
Humans
Infant
Journal Article
Karczmarewicz E
Male
Membrane Proteins
Mierzewska H
Mitochondrial Proteins
Mitochondrial/genetics
Mutation
Newborn
Pediatric Research
Piekutowska-Abramczuk D
Poland
Preschool
Prognosis
Pronicka E
Pronicki M
Proteins/genetics
Q3 Scoping Review Results
Sequence Deletion
Slovakia
Sykut-Cegielska J
Tesarova M
Vesela K
Zeman J
-
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/10.1177/000992280304200806" target="_blank" rel="noreferrer">http://doi.org/10.1177/000992280304200806</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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The clinical spectrum of mitochondrial disease in 75 pediatric patients
Publisher
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Clinical 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
Child; Female; Humans; infant; Male; adolescent; Preschool; infant; Q3 Literature Search; Newborn; retrospective studies; Age of Onset; Mitochondrial Diseases/diagnosis/epidemiology
Creator
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Skladal D; Sudmeier C; Konstantopoulou V; Stockler-Ipsiroglu S; Plecko-Startinig B; Bernert G; Zeman J; Sperl W
Description
An account of the resource
The clinical presentation of mitochondrial disorders in childhood is highly variable causing difficulties in diagnosis and management. We assessed records of 75 children (48 male, 27 female) with a biochemically and/or molecularly established mitochondrial disorder in a retrospective, multicentric study. The predominant biochemical defect was an isolated respiratory chain complex IV, followed by respiratory chain complex I, combined respiratory chain, and isolated pyruvate dehydrogenase complex (PDHC) deficiencies. For the 75 patients, the predominant clinical presentations were a nonspecific encephalomyopathy (n = 34) and Leigh syndrome (n = 17). Classical mitochondrial syndromes with associated mutations of the mitochondrial DNA were rare (n = 12). Eleven children had a lethal infantile mitochondrial disease (LIMD). This group comprised a considerable variety of clinical pictures, and the cohort was big enough to show the high frequency and wide spectrum of nonneuromuscular symptoms in mitochondrial disorders in childhood.
2003
Identifier
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<a href="http://doi.org/10.1177/000992280304200806" target="_blank" rel="noreferrer">10.1177/000992280304200806</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
Age of Onset
Backlog
Bernert G
Child
Clinical Pediatrics
Female
Humans
Infant
Journal Article
Konstantopoulou V
Male
Mitochondrial Diseases/diagnosis/epidemiology
Newborn
Plecko-Startinig B
Preschool
Q3 Scoping Review Results
Retrospective Studies
Skladal D
Sperl W
Stockler-Ipsiroglu S
Sudmeier C
Zeman J