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., 2016; Sairanen et al., 2017 Sairanen et al., , 2018 . ... V Sairanen et al.: Preprint submitted to Elsevier Page 8 of 12 ...doi:10.1101/2021.06.09.447697 fatcat:lxqu2374mrah5ke4wlyzc4alra
Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder causing developmental delay, intellectual disability, and eventual death. A distinct feature in AGU is iron accumulation within the thalamus. Our aim is to demonstrate that susceptibility-weighted images (SWI) could be used as an MRI biomarker to evaluate the response within the AGU population to newly evolving treatments. SWI from 16 patients with AGU and 16 age-matched controls were used in the analysis. Thalamic volume with andoi:10.3390/brainsci10100677 pmid:32992453 pmcid:PMC7600807 fatcat:lnx2ejvebje4ba33vcga2h7npm
more »... iron accumulation was identified using a permutation test. Group differences were investigated for both the complete thalamus and the iron accumulation regions. Group-wise age correlation within these volumes were assessed with analysis of variance and multivariate regression. We found a statistically significant and large difference (p-value = 0.01, Cohen's D = 0.97) for the whole thalamus comparison and an even greater difference in the iron accumulation regions (p-value < 0.01, Cohen's D = 3.52). Furthermore, we found strong evidence for iron accumulation as a linear function of age with R2 = 0.65 only for AGU. The statistical analysis of SWI provides tools for assessing the degree of iron accumulation. This method could be used to study the response to treatments, in that a successful treatment would be expected to result in a decline in iron accumulation.
Viljami Sairanen for his help with FSL and slurm queue scripting. ...doi:10.1101/2020.02.17.952697 fatcat:2nt74bczezam5hqiricojhd5va
Human Brain Mapping
Viljami Sairanen for his help with FSL and slurm queue scripting. ACKNOWLEDGEMENT ...doi:10.1002/hbm.25424 pmid:33788350 pmcid:PMC8193531 fatcat:etjwmotr5rbfxegga7m3npmveq
Thanks to Tapani Honkavaara, Viljami Sairanen, Janne Hirvonen, Arto Köliö, Jukka Piironen, Saku Suuriniemi, and Lauri Kettunen for their valuable help. ...doi:10.1088/0266-5611/30/11/114016 fatcat:pwreos554rbkxhhj37uxiyyjua
Especially, Toni Ihalainen, Touko Kaasalainen, Linda Kuusela, Lauri Lehmonen, Nadja Lönnroth, Teemu Mäkelä, Viljami Sairanen, Alexey Sofiev, Marjut Timonen and Jouni Uusi-Simola have contributed significantly ...doi:10.1007/s10278-016-9919-4 pmid:27834027 pmcid:PMC5359204 fatcat:mzipqg4emba5tdbn4j7hxezzmu