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11.
  • Diaz, Francisca, et al. (författare)
  • Mitochondrial disorders caused by mutations in respiratory chain assembly factors
  • 2011
  • Ingår i: Seminars in Fetal & Neonatal Medicine. - : Elsevier. - 1878-0946. ; 16:4, s. 197-204
  • Tidskriftsartikel (refereegranskat)abstract
    • Mitochondrial diseases involve the dysfunction of the oxidative phosphorylation (OXPHOS) system. This group of diseases presents with heterogeneous clinical symptoms affecting mainly organs with high energy demands. Defects in the multimeric complexes comprising the OXPHOS system have a dual genetic origin, mitochondrial or nuclear DNA. Although many nuclear DNA mutations involve genes coding for subunits of the respiratory complexes, the majority of mutations found to date affect factors that do not form part of the final complexes. These assembly factors or chaperones have multiple functions ranging from cofactor insertion to proper assembly/stability of the complexes. Although significant progress has been made in the last few years in the discovery of new assembly factors, the function of many remains elusive. Here, we describe assembly factors or chaperones that are required for respiratory chain complex assembly and their clinical relevance. (C) 2011 Elsevier Ltd. All rights reserved.
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12.
  • Elens, Laure, et al. (författare)
  • Genetic Predisposition to Poor Opioid Response in Preterm Infants : Impact of KCNJ6 and COMT Polymorphisms on Pain Relief after Endotracheal Intubation
  • 2016
  • Ingår i: Therapeutic Drug Monitoring. - : Lippincott Williams & Wilkins. - 0163-4356 .- 1536-3694. ; 38:4, s. 525-533
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Single-nucleotide polymorphisms in genes involved in pain control might predispose to exaggerated sensitivity or difference in opioid analgesic effect. The relevance of the KCNJ6 -1250G>A (rs6517442, c.-1787G>A) and the catecholamine-O-methyltransferase (COMT) c.472G>A (rs4680, Val 158 Met) single-nucleotide polymorphisms were studied in preterm infants needing intubation and randomized to a premedication strategy including remifentanil (n 17) or morphine (n 17). Methods: Pain was scored with Astrid Lindgren and Lund Children's Hospital Pain Assessment Scale every 30 minutes for 6 hours. The pain relief provided by the opioids was compared between the different KCNJ6 and COMT genotypes. Results: Infants homozygous for the KCNJ6 -1250A allele had an increased duration after intubation to achieve a score indicating no pain compared with infants with the A/G or G/G genotypes (182 ± 30, 109 ± 29, and 60 ± 21 minutes, respectively; Logrank 7.5, P 0.006). Similarly, the duration was increased in individuals with the COMT Val/Val alleles compared with Val/Met and Met/Met (285 ± 37, 137 ± 25, and 63 ± 15 minutes, respectively; Logrank 14.4, P 0.0021). Cox proportional hazards analysis confirmed that the variation in both genes was independently associated with susceptibility to respond to therapy. Conclusion: We conclude that the KCNJ6 -1250A and COMT 158 Val alleles are predisposing preterm newborns to diminished opioid-induced pain relief.
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17.
  • Fellman, Vineta, et al. (författare)
  • Cortical auditory event-related potentials in newborn infants.
  • 2006
  • Ingår i: Seminars in Fetal & Neonatal Medicine. - : Elsevier. - 1878-0946. ; 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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18.
  • Fellman, Vineta (författare)
  • De GRACILA barnen
  • 2006
  • Ingår i: Finska Läkaresällskapets Handlingar. - : Finska läkaresällskapet. - 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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19.
  • Fellman, Vineta (författare)
  • GRACILE-oireyhtymä--vastasyntyneen vakava mitokondriotauti.
  • 2012
  • Ingår i: Duodecim; lääketieteellinen aikakauskirja. - : Finnish Medical Society Duodecim. - 0012-7183. ; 128:15, s. 1560-1567
  • Forskningsöversikt (refereegranskat)abstract
    • GRACILE syndrome belongs to the Finnish disease heritage, and is caused by a point mutation in the BCS1L-gene encoding a mitochondrial protein. This leads to dysfunction of the complex III in the respiratory chain. Significant fetal growth disturbance is the primary manifestation. Within the first day the newborn infant develops severe lactic acidosis. Hypoglycemia, elevated serum ferritin and conjugated bilirubin values and aminoaciduria imply mitochondrial liver disease and renal tubulopathy. In Finland, the diagnosis is based on the 232A>G mutation in the BCS1L-gene. No specific treatment is available. GRACILE syndrome leads to early death.
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