| 11. |
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| 12. |
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| 13. |
- Fellman, Vineta, et al.
(författare)
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Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
- 2008
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Ingår i: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 53:6, s. 554-558
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Tidskriftsartikel (refereegranskat)abstract
- The BCS1L gene encodes a chaperone responsible for assembly of respiratory chain complex III (CIII). A homozygous point mutation (232A -> G) has been found as the genetic etiology for fetal growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (GRACILE) syndrome (MIM 603358). Variable phenotypes have been found with other mutations. Our aim was to assess whether 232A -> G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder. A further aim was to confirm the GRACILE genotype-phenotype constancy (n = 8). Three new cases with homozygous 232A -> G mutation were identified; all had the primary GRACILE characteristics. No other mutations were found in the gene in other cases. All infants with GRACILE syndrome had the typical mutation. In conclusion, the rather homogenous population of Finns seems to have a specific BCS1L mutation that, as homozygous state, causes GRACILE syndrome, whereas other mutations are rare or not occurring. Thus, the novel clinical implication of this study is to screen for BCS1L mutations only if CIII is dysfunctioning or lacking Rieske protein, and to assess 232A -> G mutation in cases with GRACILE syndrome.
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| 14. |
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| 15. |
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| 16. |
- Korkman, Marit, et al.
(författare)
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Neurocognitive test profiles of extremely low birth weight five-year-old children differ according to neuromotor status
- 2008
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Ingår i: Developmental Neuropsychology. - : Informa UK Limited. - 8756-5641 .- 1532-6942. ; 33:5, s. 637-655
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Tidskriftsartikel (refereegranskat)abstract
- The neurocognitive outcome of children born with extremely low birth weight (ELBW) is highly variable due to the complexity of morbidity. So far, no study has compared comprehensive neuropsychological test profiles in groups with different neuromotor status. In a national cohort of ELBW children neuropsychological test profiles were assessed in 4 groups defined according to a neurological examination at 5 years of age: normal neuromotor status (N = 56). motor coordination problems (N = 32), Multiple Subtle neuromotor signs including, both motor coordination problems and deviant reflexes (N = 20), and spastic diplegia (N = 12). The neurocognitive assessment included a test of intelligence. the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R) and 14 subtests of attention and executive functions, verbal functions, Manual motor functions, visuoconstructional functions and verbal learning (NEPSY). The children with normal neuromotor status performed within the average range: children with motor coordination problems had widespread impairment and children with spastic diplegia and children with multiple minor neuromotor(Or Signs had uneven test profiles with stronger verbal results but weaknesses in attention and executive functions, and in manual motor and visuoconstructional tasks. In conclusion, very preterm children with neuromotor signs, including motor coordination problems, are at risk for neurocognitive impairment. in spite of average intelligence. More impaired children have more irregular test profiles. Follow-up and neuropsychological assessment of very preterm children with minor neuromotor signs are therefore indicated.
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| 17. |
- Kotarsky, Heike, et al.
(författare)
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BCS1L is expressed in critical regions for neural development during ontogenesis in mice.
- 2007
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Ingår i: Gene Expression Patterns. - : Elsevier BV. - 1567-133X. ; 7, s. 266-273
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Tidskriftsartikel (refereegranskat)abstract
- BCS1L is a chaperone necessary for the incorporation of Rieske Fes and Qcr10p into complex III (CIII) of the respiratory chain. Mutations in the BCS1L gene cause early fetal growth restriction and a lethal neonatal disease in humans, however, the pathogenesis remains unclear. Here, we analysed the expression of BCS1L during mouse embryonic development and compared its expression with that of the mitochondrial markers Porin, GRIM 19, Core 1, and Rieske Fes. BCS1L was strongly expressed in embryonic tissues already at embryonic days 7 (E7) and 9 whereas the expression of Porin and Rieske Fes was not as evident at this time point. At E 11, BCS1L, Porin, and Rieske Fes had overlapping expression patterns in organs known to contain high numbers of mitochondria such as heart, liver and somites. In contrast, BCS1L was differently distributed compared to the mitochondrial proteins Porin, Rieske FeS, Core I and Grim 19 in the floor plate of the E 11, E 12 and E 13 neural tube. These results show that the expression pattern of BCS1L only partially overlaps with the expression of Porin and Rieske Fes. Thus, BCS1L alone or in cooperation with Rieske FES may during development have previously unknown functions beside its role in assembly of complex III. The floor plate of the neural tube is essential for dorsal ventral patterning and the guidance of the developing neurons to their targets. The predominant expression of BCS1L in this region, together with its presence in peripheral ganglia from E13 onwards, indicates a role for BCS1L in the development of neural structures. (c) 2006 Elsevier B.V. All rights reserved.
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| 18. |
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| 19. |
- Kotilahti, K, et al.
(författare)
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Near-infrared spectroscopic imaging of stimulus-related hemodynamic responses on the neonatal auditory cortices.
- 2005
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Ingår i: Optical tomography and spectroscopy of tissue VI. - : SPIE. - 1996-756X .- 0277-786X. - 9780819456670 ; 5693, s. 388-395
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Konferensbidrag (refereegranskat)abstract
- We have used near-infrared spectroscopy (NIRS) to study hemodynamic auditory evoked responses on 7 full-term neonates. Measurements were done simultaneously above both auditory cortices to study the distribution of speech and music processing between hemispheres using a 16-channel frequency-domain instrument. The stimulation consisted of 5-second samples of music and speech with a 25-second silent interval. In response to stimulation, a significant increase in the concentration of oxygenated hemoglobin ([HbO2]) was detected in 6 out of 7 subjects. The strongest responses in [HbO2] were seen near the measurement location above the ear on both hemispheres. The mean latency of the maximum responses was 9.42±1.51 s. On the left hemisphere (LH), the maximum amplitude of the average [HbO2] response to the music stimuli was 0.76± 0.38 μ M (mean±std.) and to the speech stimuli 1.00± 0.45 μ± μM. On the right hemisphere (RH), the maximum amplitude of the average [HbO2] response was 1.29± 0.85 μM to the music stimuli and 1.23± 0.93 μM to the speech stimuli. The results indicate that auditory information is processed on both auditory cortices, but LH is more concentrated to process speech than music information. No significant differences in the locations and the latencies of the maximum responses relative to the stimulus type were found.
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| 20. |
- Kushnerenko, Elena, et al.
(författare)
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Processing acoustic change and novelty in newborn infants
- 2007
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Ingår i: European Journal of Neuroscience. - : Wiley. - 1460-9568 .- 0953-816X. ; 26:1, s. 265-274
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Tidskriftsartikel (refereegranskat)abstract
- Research on event-related potential (ERP) correlates of auditory deviance-detection in newborns provided inconsistent results; temporal and topographic ERP characteristics differed widely across studies and individual infants. Robust and reliable ERP responses were, however, obtained to sounds (termed 'novel' sounds), which cover a wide range of frequencies and widely differ from the context provided by a repeating sound [Kushnerenko et al., (2002) NeuroReport, 13, 1843-1848]. The question we investigated here is whether this effect can be attributed to novelty per se or to acoustic characteristics of the 'novel' sounds, such as their wide frequency spectrum and high signal energy compared with the repeated tones. We also asked how sensitivity to these stimulus aspects changes with development. Twelve newborns and 11 adults were tested in four different oddball conditions, each including a 'standard' sound presented with the probability of 0.8 and two types of infrequent 'deviant' sounds (0.1 probability, each). Deviants were (i) 'novel' sounds (diverse environmental noises); (ii) white-noise segments, or harmonic tones of (iii) a higher pitch, or (iv) higher intensity. In newborns, white-noise deviants elicited the largest response in all latency ranges, whereas in adults, this phenomenon was not found. Thus, newborns appear to be especially sensitive to sounds having a wide frequency spectrum. On the other hand, the pattern of results found for the late discriminative ERP response indicates that newborns may also be able to detect novelty in acoustic stimulation, although with a longer latency than adults, as shown by the ERP response. Results are discussed in terms of developmental refinement of the initially broadly tuned neonate auditory system.
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