Radboud Centre for Mitochondrial Medicine Pediatric MRI score
We developed the first user-friendly, semi-quantitative, and quick-to-perform Radboud Centre for Mitochondrial Medicine Pediatric MRI score (RCMM-PMRIS), focusing on the six most commonly described neuroimaging abnormalities in the literature. The RCMM-PMRIS was validated through individual review o...
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| Published in | Mitochondrion Vol. 32; pp. 36 - 41 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Netherlands
01.01.2017
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1567-7249 1872-8278 |
| DOI | 10.1016/j.mito.2016.11.008 |
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| Abstract | We developed the first user-friendly, semi-quantitative, and quick-to-perform Radboud Centre for Mitochondrial Medicine Pediatric MRI score (RCMM-PMRIS), focusing on the six most commonly described neuroimaging abnormalities in the literature. The RCMM-PMRIS was validated through individual review of 30 sets of brain MRI studies in 24 patients with genetically confirmed mitochondrial disorders by six raters. The application of RCMM-PMRIS can help to define the extent of the brain involvement and therefore to assess the radiological mitochondrial disease severity, to monitor disease progression and consequently to act as an outcome measure for treatment effects in patients with mitochondrial disease. |
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| AbstractList | We developed the first user-friendly, semi-quantitative, and quick-to-perform Radboud Centre for Mitochondrial Medicine Pediatric MRI score (RCMM-PMRIS), focusing on the six most commonly described neuroimaging abnormalities in the literature. The RCMM-PMRIS was validated through individual review of 30 sets of brain MRI studies in 24 patients with genetically confirmed mitochondrial disorders by six raters. The application of RCMM-PMRIS can help to define the extent of the brain involvement and therefore to assess the radiological mitochondrial disease severity, to monitor disease progression and consequently to act as an outcome measure for treatment effects in patients with mitochondrial disease. |
| Author | de Boer, Lonneke Vister, Jeroen Fung, Cheuk-Wing Koene, Saskia Smeitink, Jan Wong, Sheila Suet-Na Goraj, Bozena |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27865797$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_1016_j_pediatrneurol_2022_04_013 crossref_primary_10_1136_jmedgenet_2017_105094 crossref_primary_10_26815_acn_2024_00542 |
| Cites_doi | 10.1016/j.mito.2004.07.008 10.1007/s10540-007-9046-z 10.1093/brain/awg170 10.1007/978-94-007-2869-1_8 10.2307/2529310 10.1111/j.1552-6569.2007.00130.x 10.1136/jmedgenet-2013-102256 10.1111/j.1750-3639.2000.tb00273.x 10.1111/j.1600-0404.2006.00671.x 10.1001/archneur.65.9.1202 10.1038/gim.2014.177 10.3233/JAD-142088 |
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| Keywords | End point Mitochondrial disorders Magnetic resonance imaging Mitochondrial disease Outcome measure |
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| References_xml | – volume: 4 start-page: 471 issue: 5–6 year: 2004 ident: 10.1016/j.mito.2016.11.008_bb0040 article-title: Neuroimaging of mitochondrial disorders publication-title: Mitochondrion doi: 10.1016/j.mito.2004.07.008 – volume: 27 start-page: 69 issue: 1–3 year: 2007 ident: 10.1016/j.mito.2016.11.008_bb0005 article-title: Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies publication-title: Biosci. Rep. doi: 10.1007/s10540-007-9046-z – volume: 126 start-page: 1905 issue: Pt 8 year: 2003 ident: 10.1016/j.mito.2016.11.008_bb0065 article-title: Minimum birth prevalence of mitochondrial respiratory chain disorders in children publication-title: Brain doi: 10.1093/brain/awg170 – volume: 942 start-page: 187 year: 2012 ident: 10.1016/j.mito.2016.11.008_bb0035 article-title: Inherited mitochondrial disorders publication-title: Adv. Exp. Med. Biol. doi: 10.1007/978-94-007-2869-1_8 – volume: 33 start-page: 159 issue: 1 year: 1977 ident: 10.1016/j.mito.2016.11.008_bb0055 article-title: The measurement of observer agreement for categorical data publication-title: Biometrics doi: 10.2307/2529310 – volume: 17 start-page: 10S year: 2007 ident: 10.1016/j.mito.2016.11.008_bb0020 article-title: Measuring brain atrophy in multiple sclerosis publication-title: J. Neuroimaging doi: 10.1111/j.1552-6569.2007.00130.x – volume: 51 start-page: 429 issue: 7 year: 2014 ident: 10.1016/j.mito.2016.11.008_bb0015 article-title: Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations publication-title: J. Med. Genet. doi: 10.1136/jmedgenet-2013-102256 – volume: 10 start-page: 419 issue: 3 year: 2000 ident: 10.1016/j.mito.2016.11.008_bb0025 article-title: Introduction: mitochondrial encephalomyopathies publication-title: Brain Pathol. doi: 10.1111/j.1750-3639.2000.tb00273.x – volume: 114 start-page: 217 issue: 4 year: 2006 ident: 10.1016/j.mito.2016.11.008_bb0030 article-title: Central nervous system manifestations of mitochondrial disorders publication-title: Acta Neurol. Scand. doi: 10.1111/j.1600-0404.2006.00671.x – volume: 65 start-page: 1202 issue: 9 year: 2008 ident: 10.1016/j.mito.2016.11.008_bb0010 article-title: Measuring cerebral atrophy and white matter hyperintensity burden to predict the rate of cognitive decline in Alzheimer disease publication-title: Arch. Neurol. doi: 10.1001/archneur.65.9.1202 – volume: 17 start-page: 689 issue: 9 year: 2015 ident: 10.1016/j.mito.2016.11.008_bb0060 article-title: Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society publication-title: Genet. Med. doi: 10.1038/gim.2014.177 – volume: 44 start-page: 1023 issue: 3 year: 2015 ident: 10.1016/j.mito.2016.11.008_bb0045 article-title: A comprehensive visual rating scale of brain magnetic resonance imaging: application in elderly subjects with Alzheimer's disease, mild cognitive impairment, and normal cognition publication-title: J. Alzheimers Dis. doi: 10.3233/JAD-142088 – year: 2011 ident: 10.1016/j.mito.2016.11.008_bb0050 – volume: 76 start-page: 16 issue: 3 year: 2011 ident: 10.1016/j.mito.2016.11.008_bb0070 article-title: Normative values for selected linear indices of the intracranial fluid spaces based on CT images of the head in children publication-title: Pol. J. Radiol. |
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| SubjectTerms | Adolescent Brain - diagnostic imaging Brain - pathology Child Child, Preschool Female Humans Infant Infant, Newborn Magnetic Resonance Imaging - methods Male Mitochondrial Diseases - diagnostic imaging Severity of Illness Index |
| Title | Radboud Centre for Mitochondrial Medicine Pediatric MRI score |
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