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Sökning: WFRF:(Fellman Vineta) > (2005-2009) > Medicin och hälsovetenskap

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1.
  • Kotarsky, Heike, et al. (författare)
  • BCS1L is expressed in critical regions for neural development during ontogenesis in mice.
  • 2007
  • Ingår i: Gene Expression Patterns. - : Elsevier BV. - 1567-133X. ; 7, s. 266-273
  • 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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2.
  • Pupp, Ingrid, et al. (författare)
  • Fresh-frozen plasma as a source of exogenous insulin-like growth factor-I in the extremely preterm infant
  • 2009
  • Ingår i: J Clin Endocrinol Metab. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 94:2, s. 477-482
  • Tidskriftsartikel (refereegranskat)abstract
    • CONTEXT: Preterm birth is followed by a decrease in circulatory levels of IGF-I and IGF binding protein (IGFBP)-3, proteins with important neurogenic and angiogenic properties. OBJECTIVE: Our objective was to evaluate the effects of iv administration of fresh-frozen plasma (FFP) from adult donors on circulatory levels of IGF-I and IGFBP-3 in extremely preterm infants. DESIGN, SETTING, AND PATIENTS: A prospective cohort study was performed in 20 extremely preterm infants [mean (SD) gestational age 25.3 (1.3) wk] with clinical requirement of FFP during the first postnatal week. Sampling was performed before initiation of transfusion, directly after, and at 6, 12, 24, and 48 h after completed FFP transfusion. MAIN OUTCOME MEASURES: Concentrations of IGF-I and IGFBP-3 before and after transfusion of FFP were determined. RESULTS: FFP with a mean (SD) volume of 11 ml/kg (3.1) was administered at a median postnatal age of 2 d (range 1-7). Mean (SD) IGF-I and IGFBP-3 concentrations in administered FFP were 130 (39) and 2840 microg/liter (615), respectively. Immediately after FFP transfusion, mean (SD) concentrations of IGF-I increased by 133% from 11 (6.4) to 25 microg/liter (9.3) (P < 0.001) and IGFBP-3 by 61% from 815 (451) to 1311 microg/liter (508) (P < 0.001). Concentrations of IGF-I and IGFBP-3 remained higher at 6 (P < 0.001, P = 0.009) and 12 h (P = 0.017, P = 0.018), respectively, as compared with concentrations before FFP transfusion. Typical half-life of administrated IGF-I was 3.4 h for a 1-kg infant. CONCLUSION: Transfusion of FFP to extremely preterm infants during the first postnatal week elevates levels of IGF-I and IGFBP-3.
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4.
  • 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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8.
  • 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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9.
  • 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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  • Resultat 1-10 av 38

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