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Sökning: WFRF:(Fellman Vineta) > (2005-2009) > Tidskriftsartikel

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1.
  • Carral, V, et al. (författare)
  • A kind of auditory 'primitive intelligence' already present at birth
  • 2005
  • Ingår i: European Journal of Neuroscience. - : Wiley. - 1460-9568 .- 0953-816X. ; 21:11, s. 3201-3204
  • Tidskriftsartikel (refereegranskat)abstract
    • 'Primitive intelligence' in audition refers to the capacity of the auditory system to adaptatively model the acoustic regularity and react neurophysiologically to violations of such regularity, thus supporting the ability to predict future auditory events. In the present study, event-related brain potentials to pairs of tones were recorded in 11 human newborns to determine the infants' ability to extract an abstract acoustic rule, the direction of a frequency change. Most of the pairs (standard, P = 0.875) were of ascending frequency (i.e. the second tone higher than the first), while the remaining pairs (deviant, P = 0.125) were of descending frequency (the second tone being lower). Their frequencies varied among seven levels to prevent discrimination between standard and deviant pairs on the basis of absolute frequencies. We found that event-related brain potentials to deviant pairs differed in amplitude from those to standard pairs at 50-450 ms from the onset of the second tone of a pair, indicating the infants' ability to represent the abstract rule. This finding suggests the early ontogenetic origin of 'primitive intelligence' in audition that eventually may form a prerequisite for later language acquisition.
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  • Fellman, Vineta, et al. (författare)
  • Cortical auditory event-related potentials in newborn infants.
  • 2006
  • Ingår i: Seminars in Fetal & Neonatal Medicine. - : Elsevier BV. - 1878-0946 .- 1744-165X. ; 11:6, s. 452-458
  • Tidskriftsartikel (refereegranskat)abstract
    • The possibility of recording changes in electroencephalography potentials following perception of sound was reported several decades ago. The recent expanding research on auditory cortical event-retated potentials (AERPs) for assessing sound discrimination abilities in children and infants has indicated that several methodological issues need to be addressed before it can be implemented in clinical practice. Latencies, polarities, and amplitudes of the responses change with gestational age and during infancy. Thus, the maturation of the infant must be considered when designing stimulus paradigms and interpreting the responses. Of healthy newborn infants, only about 80% will show mismatch negativity, the automatic change detection of the auditory stimuli. Currently, the AERP method cannot be applied in clinical practice in the neonatal period, although the findings in healthy newborns at risk for dyslexia are promising. Further research will elucidate the possibility of developing AERPs as a possible early screening method during infancy for later dyslexia or cognitive dysfunction.
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4.
  • Fellman, Vineta (författare)
  • De GRACILA barnen
  • 2006
  • Ingår i: Finska Läkaresällskapets Handlingar. - 0015-2501. ; 166:2, s. 75-80
  • Tidskriftsartikel (refereegranskat)abstract
    • GRACILE-syndromet (Fellmans syndrom, MIM 603358) hör till det fi nländska genetiska sjukdomsarvet. Sjukdomen är orsakad av en missens mutation (S78G) i BCS1L, ett protein som fungerar som en “chaperon” eller sammankopplande länk vid bildning av komplex III i andningskedjan. Syndromet uttrycker sig som en grav tillväxthämning redan under fostertiden, och efter födseln utvecklar barnet en uttalad metabolisk acidos pga. av nedsatt funktion i komplex III. Övriga symtom är proximal tubulopati, nedsatt leverfunktion med cirrhos och uttalad järnupplagring, störd järnmetabolism och tidig död. Diagnosen ställs med hjälp av mutationen, alla barn av fi nländskt ursprung har haft samma homozygota mutation S78G. I andra länder förekommer olika mutationer i BCS1L och fenotypen varierar. Behandlingen är än så länge enbart symtomatisk.
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5.
  • Fellman, Vineta (författare)
  • Mitochondrial complex III deficiencies in the newborn infant.
  • 2006
  • Ingår i: Drug Discovery Today: Disease Mechanisms. - : Elsevier BV. - 1740-6765. ; 3:4, s. 421-427
  • Tidskriftsartikel (refereegranskat)abstract
    • New mechanisms for respiratory chain complex III diseases have recently been reported. Deletions, rearrangements and tRNA mutations of mitochondrial DNA cause deficiencies in several complexes. Mutations in the only complex III subunit encoded by mitochondrial DNA, cytochrome b, cause variable clinical phenotypes, such as cardiomyopathy or multisystemic dysfunction after birth. The homozygous serine78alanine mutation in the complex III assembling protein, BCS1L, causes a distinct phenotype, the GRACILE syndrome, whereas in other BCS1L mutations, the clinical picture is variable, but tubulopathy and liver dysfunction are typical.
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6.
  • Fellman, Vineta, et al. (författare)
  • One-year survival of extremely preterm infants after active perinatal care in Sweden.
  • 2009
  • Ingår i: JAMA : the journal of the American Medical Association. - : American Medical Association (AMA). - 1538-3598 .- 0098-7484. ; 301:21, s. 2225-33
  • Tidskriftsartikel (refereegranskat)abstract
    • Up-to-date information on infant survival after extremely preterm birth is needed for assessing perinatal care services, clinical guidelines, and parental counseling.
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7.
  • Fellman, Vineta (författare)
  • Pain in newborn infants - fictions and facts
  • 2007
  • Ingår i: Acta Pædiatrica. - : Wiley. - 1651-2227 .- 0803-5253. ; 96:7, s. 952-953
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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  • Fellman, Vineta, et al. (författare)
  • Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
  • 2008
  • Ingår i: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 53:6, s. 554-558
  • 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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10.
  • Korkman, Marit, et al. (författare)
  • Neurocognitive test profiles of extremely low birth weight five-year-old children differ according to neuromotor status
  • 2008
  • Ingår i: Developmental Neuropsychology. - : Informa UK Limited. - 8756-5641 .- 1532-6942. ; 33:5, s. 637-655
  • 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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