Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease
Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean a...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Razek, Ahmed Abdel Khalek Abdel [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2013 |
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| Schlagwörter: |
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| Anmerkung: |
© European Society of Radiology 2013 |
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| Übergeordnetes Werk: |
Enthalten in: European radiology - Berlin : Springer, 1991, 23(2013), 11 vom: 20. Juni, Seite 3005-3011 |
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| Übergeordnetes Werk: |
volume:23 ; year:2013 ; number:11 ; day:20 ; month:06 ; pages:3005-3011 |
| Links: |
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| DOI / URN: |
10.1007/s00330-013-2924-9 |
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| Katalog-ID: |
SPR004008235 |
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| 100 | 1 | |a Razek, Ahmed Abdel Khalek Abdel |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease |
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| 520 | |a Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease. | ||
| 650 | 4 | |a Neuronopathic |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Gaucher disease |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Children |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a MR spectroscopy |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a CNS |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Abdalla, Ahmed |4 aut | |
| 700 | 1 | |a Gaber, Nahed Abdel |4 aut | |
| 700 | 1 | |a Fathy, Abeer |4 aut | |
| 700 | 1 | |a Megahed, Ahmed |4 aut | |
| 700 | 1 | |a Barakat, Tarek |4 aut | |
| 700 | 1 | |a latif Alsayed, Mona Abdel |4 aut | |
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10.1007/s00330-013-2924-9 doi (DE-627)SPR004008235 (SPR)s00330-013-2924-9-e DE-627 ger DE-627 rakwb eng Razek, Ahmed Abdel Khalek Abdel verfasserin aut Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © European Society of Radiology 2013 Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease. Neuronopathic (dpeaa)DE-He213 Gaucher disease (dpeaa)DE-He213 Children (dpeaa)DE-He213 MR spectroscopy (dpeaa)DE-He213 CNS (dpeaa)DE-He213 Abdalla, Ahmed aut Gaber, Nahed Abdel aut Fathy, Abeer aut Megahed, Ahmed aut Barakat, Tarek aut latif Alsayed, Mona Abdel aut Enthalten in European radiology Berlin : Springer, 1991 23(2013), 11 vom: 20. Juni, Seite 3005-3011 (DE-627)268757526 (DE-600)1472718-3 1432-1084 nnns volume:23 year:2013 number:11 day:20 month:06 pages:3005-3011 https://dx.doi.org/10.1007/s00330-013-2924-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 23 2013 11 20 06 3005-3011 |
| spelling |
10.1007/s00330-013-2924-9 doi (DE-627)SPR004008235 (SPR)s00330-013-2924-9-e DE-627 ger DE-627 rakwb eng Razek, Ahmed Abdel Khalek Abdel verfasserin aut Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © European Society of Radiology 2013 Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease. Neuronopathic (dpeaa)DE-He213 Gaucher disease (dpeaa)DE-He213 Children (dpeaa)DE-He213 MR spectroscopy (dpeaa)DE-He213 CNS (dpeaa)DE-He213 Abdalla, Ahmed aut Gaber, Nahed Abdel aut Fathy, Abeer aut Megahed, Ahmed aut Barakat, Tarek aut latif Alsayed, Mona Abdel aut Enthalten in European radiology Berlin : Springer, 1991 23(2013), 11 vom: 20. Juni, Seite 3005-3011 (DE-627)268757526 (DE-600)1472718-3 1432-1084 nnns volume:23 year:2013 number:11 day:20 month:06 pages:3005-3011 https://dx.doi.org/10.1007/s00330-013-2924-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 23 2013 11 20 06 3005-3011 |
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10.1007/s00330-013-2924-9 doi (DE-627)SPR004008235 (SPR)s00330-013-2924-9-e DE-627 ger DE-627 rakwb eng Razek, Ahmed Abdel Khalek Abdel verfasserin aut Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © European Society of Radiology 2013 Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease. Neuronopathic (dpeaa)DE-He213 Gaucher disease (dpeaa)DE-He213 Children (dpeaa)DE-He213 MR spectroscopy (dpeaa)DE-He213 CNS (dpeaa)DE-He213 Abdalla, Ahmed aut Gaber, Nahed Abdel aut Fathy, Abeer aut Megahed, Ahmed aut Barakat, Tarek aut latif Alsayed, Mona Abdel aut Enthalten in European radiology Berlin : Springer, 1991 23(2013), 11 vom: 20. Juni, Seite 3005-3011 (DE-627)268757526 (DE-600)1472718-3 1432-1084 nnns volume:23 year:2013 number:11 day:20 month:06 pages:3005-3011 https://dx.doi.org/10.1007/s00330-013-2924-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 23 2013 11 20 06 3005-3011 |
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10.1007/s00330-013-2924-9 doi (DE-627)SPR004008235 (SPR)s00330-013-2924-9-e DE-627 ger DE-627 rakwb eng Razek, Ahmed Abdel Khalek Abdel verfasserin aut Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © European Society of Radiology 2013 Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease. Neuronopathic (dpeaa)DE-He213 Gaucher disease (dpeaa)DE-He213 Children (dpeaa)DE-He213 MR spectroscopy (dpeaa)DE-He213 CNS (dpeaa)DE-He213 Abdalla, Ahmed aut Gaber, Nahed Abdel aut Fathy, Abeer aut Megahed, Ahmed aut Barakat, Tarek aut latif Alsayed, Mona Abdel aut Enthalten in European radiology Berlin : Springer, 1991 23(2013), 11 vom: 20. Juni, Seite 3005-3011 (DE-627)268757526 (DE-600)1472718-3 1432-1084 nnns volume:23 year:2013 number:11 day:20 month:06 pages:3005-3011 https://dx.doi.org/10.1007/s00330-013-2924-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 23 2013 11 20 06 3005-3011 |
| allfieldsSound |
10.1007/s00330-013-2924-9 doi (DE-627)SPR004008235 (SPR)s00330-013-2924-9-e DE-627 ger DE-627 rakwb eng Razek, Ahmed Abdel Khalek Abdel verfasserin aut Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © European Society of Radiology 2013 Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease. Neuronopathic (dpeaa)DE-He213 Gaucher disease (dpeaa)DE-He213 Children (dpeaa)DE-He213 MR spectroscopy (dpeaa)DE-He213 CNS (dpeaa)DE-He213 Abdalla, Ahmed aut Gaber, Nahed Abdel aut Fathy, Abeer aut Megahed, Ahmed aut Barakat, Tarek aut latif Alsayed, Mona Abdel aut Enthalten in European radiology Berlin : Springer, 1991 23(2013), 11 vom: 20. Juni, Seite 3005-3011 (DE-627)268757526 (DE-600)1472718-3 1432-1084 nnns volume:23 year:2013 number:11 day:20 month:06 pages:3005-3011 https://dx.doi.org/10.1007/s00330-013-2924-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 23 2013 11 20 06 3005-3011 |
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English |
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Enthalten in European radiology 23(2013), 11 vom: 20. Juni, Seite 3005-3011 volume:23 year:2013 number:11 day:20 month:06 pages:3005-3011 |
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Enthalten in European radiology 23(2013), 11 vom: 20. Juni, Seite 3005-3011 volume:23 year:2013 number:11 day:20 month:06 pages:3005-3011 |
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findex.gbv.de |
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Neuronopathic Gaucher disease Children MR spectroscopy CNS |
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European radiology |
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Razek, Ahmed Abdel Khalek Abdel @@aut@@ Abdalla, Ahmed @@aut@@ Gaber, Nahed Abdel @@aut@@ Fathy, Abeer @@aut@@ Megahed, Ahmed @@aut@@ Barakat, Tarek @@aut@@ latif Alsayed, Mona Abdel @@aut@@ |
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2013-06-20T00:00:00Z |
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Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Neuronopathic</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Gaucher disease</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Children</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">MR spectroscopy</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">CNS</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Abdalla, Ahmed</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Gaber, Nahed Abdel</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Fathy, Abeer</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Megahed, Ahmed</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Barakat, Tarek</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">latif Alsayed, Mona Abdel</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">European radiology</subfield><subfield code="d">Berlin : Springer, 1991</subfield><subfield code="g">23(2013), 11 vom: 20. 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Razek, Ahmed Abdel Khalek Abdel |
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Razek, Ahmed Abdel Khalek Abdel misc Neuronopathic misc Gaucher disease misc Children misc MR spectroscopy misc CNS Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease |
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Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease Neuronopathic (dpeaa)DE-He213 Gaucher disease (dpeaa)DE-He213 Children (dpeaa)DE-He213 MR spectroscopy (dpeaa)DE-He213 CNS (dpeaa)DE-He213 |
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Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease |
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European radiology |
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Razek, Ahmed Abdel Khalek Abdel Abdalla, Ahmed Gaber, Nahed Abdel Fathy, Abeer Megahed, Ahmed Barakat, Tarek latif Alsayed, Mona Abdel |
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proton mr spectroscopy of the brain in children with neuronopathic gaucher’s disease |
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Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease |
| abstract |
Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease. © European Society of Radiology 2013 |
| abstractGer |
Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease. © European Society of Radiology 2013 |
| abstract_unstemmed |
Objective To assess the clinical usefulness of proton magnetic resonance spectroscopy (1H-MRS) in children with neuronopathic Gaucher’s disease (NGD). Methods A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent 1H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping. Results There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = −0.682; P = 0.001) Conclusion 1H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping. Key Points • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher’s disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher’s disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher’s disease. © European Society of Radiology 2013 |
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Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease |
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Abdalla, Ahmed Gaber, Nahed Abdel Fathy, Abeer Megahed, Ahmed Barakat, Tarek latif Alsayed, Mona Abdel |
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| score |
7.403063 |