| 1. |
- Autti, Taina, et al.
(author)
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Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation
- 1997
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In: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 12:6, s. 369-75
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Journal article (peer-reviewed)abstract
- Twelve living patients (aged 19 months to 32 years) with aspartylglucosaminuria were examined by magnetic resonance imaging (MRI), and the magnetic resonance (MR) images of 16 health volunteers (aged 4 to 32 years) were used as controls. One patient was examined twice. Postmortem MRI and histopathologic analysis were done on the brains of four additional adult patients. Signal intensities determined quantitatively on T2-weighted images differed significantly between patients and controls, being higher from the white matter (P < .0002) and lower from the thalami (P < .03) in the patients. The generally increased signal intensity of the white matter was most obvious in the young patients, with many focal areas of very high signal intensity in the subcortical white matter. The subcortical white matter showed a somewhat increased signal intensity even at the age of 32 years. In two of the four postmortem MR images, the distinction between the gray and white matter was still poor. At histopathologic analysis, the basic cortical cytoarchitecture was generally preserved but most neurons contained vacuoles, which were also found in the neurons of the deep gray matter. In two of the four autopsy cases the white matter showed diffuse pallor of myelin staining and some gliosis. Thus aspartylglucosaminuria is primarily a gray-matter disease also affecting white matter by delaying myelination.
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| 2. |
- Autti, Taina, et al.
(author)
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Bone marrow transplantation in aspartylglucosaminuria : histopathological and MRI study
- 1999
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In: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 30:6, s. 283-8
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Journal article (peer-reviewed)abstract
- This study comprised two patients with aspartylglucosaminuria (AGU), who were followed up for 4 and 7 years. The patients underwent allogeneic bone marrow transplantation (BMT) at the ages of 2 and 2.6 years. Both patients had abnormal speech development and gross motor clumsiness. At the time of the BMT, they were mentally retarded. We report on follow-up data of these patients obtained by MRI, in addition to the histopathological, biochemical and clinical investigations. MR images of six non-transplanted patients and seven healthy children served as controls. In the non-transplanted patients, MRI revealed evident delay of myelination in contrast to the two transplanted patients showing fair or evident grey- vs. white matter differentiation on T2-weighted images. The aspartylglucosaminidase (AGA) activity in blood leukocytes reached a heterozygous level. Urinary excretion of aspartylglucosamine and glycoasparagines slowly decreased but remained about a third of the pre-BMT level 5 years after BMT. Storage lysosomes in electron microscopic investigations were not decreased 6 months after BMT, but after 1.5-2 years, rectal mucosa samples showed a decrease in the storage vacuoles of different cells. Three years after BMT, no cells with storage vacuoles were present. Allogeneic BMT slowly normalises the pathological, biochemical and MRI findings in patients with AGU.
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| 3. |
- Holmberg, Ville, et al.
(author)
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Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
- 2000
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In: Neurology. - 0028-3878. ; 55:4, s. 579-81
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Journal article (peer-reviewed)abstract
- The authors analyzed the clinical phenotype, including MRI, of eight patients with Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCLFin; CLN5; MIM256731). Although the four known mutations, including one novel mutation identified in this study, have very different consequences for the predicted polypeptide, none of them results in an atypical phenotype, as has been reported in other forms of NCL. Thus, it seems likely that each mutation severely disturbs the normal function of the CLN5 protein.
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| 4. |
- Rantakari, Krista, et al.
(author)
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Early oxygen levels contribute to brain injury in extremely preterm infants
- 2021
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In: Pediatric Research. - : Springer Science and Business Media LLC. - 0031-3998 .- 1530-0447. ; 90, s. 131-139
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Journal article (peer-reviewed)abstract
- BACKGROUND Extremely low gestational age newborns (ELGANs) are at risk of neurodevelopmental impairments that may originate in early NICU care. We hypothesized that early oxygen saturations (SpO(2)), arterial pO(2) levels, and supplemental oxygen (FiO(2)) would associate with later neuroanatomic changes.METHODS SpO(2), arterial blood gases, and FiO(2) from 73 ELGANs (GA 26.4 +/- 1.2; BW 867 +/- 179 g) during the first 3 postnatal days were correlated with later white matter injury (WM, MRI, n = 69), secondary cortical somatosensory processing in magnetoencephalography (MEG-SII, n = 39), Hempel neurological examination (n = 66), and developmental quotients of Griffiths Mental Developmental Scales (GMDS, n = 58).RESULTS The ELGANs with later WM abnormalities exhibited lower SpO(2) and pO(2) levels, and higher FiO(2) need during the first 3 days than those with normal WM. They also had higher pCO(2) values. The infants with abnormal MEG-SII showed opposite findings, i.e., displayed higher SpO(2) and pO(2) levels and lower FiO(2) need, than those with better outcomes. Severe WM changes and abnormal MEG-SII were correlated with adverse neurodevelopment.CONCLUSIONS Low oxygen levels and high FiO(2) need during the NICU care associate with WM abnormalities, whereas higher oxygen levels correlate with abnormal MEG-SII. The results may indicate certain brain structures being more vulnerable to hypoxia and others to hyperoxia, thus emphasizing the role of strict saturation targets. Impact This study indicates that both abnormally low and high oxygen levels during early NICU care are harmful for later neurodevelopmental outcomes in preterm neonates. Specific brain structures seem to be vulnerable to low and others to high oxygen levels. The findings may have clinical implications as oxygen is one of the most common therapies given in NICUs. The results emphasize the role of strict saturation targets during the early postnatal period in preterm infants.
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