To investigate whether intractable respiratory distress syndrome in three Norwegian term infants ... more To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene. The genes encoding SP-B (SFTPB), SP-C (SFTPC), and ABCA3 (ABCA3) were sequenced from the parents of one infant and two unrelated infants with fatal neonatal lung disease. Lung tissue was examined by histology, immunohistochemistry and electron microscopy. Novel ABCA3 mutations were identified in each family. One patient had a phenotype differing from previous descriptions of this disease with an initial uneventful period. The diagnosis was established 19 years after death by analysing DNA material from the parents, with an ABCA3 mutation identified on one allele in each parent. The other two infants had more typical clinical courses with the onset of respiratory symptoms immediately after birth. ABCA3 mutations were identified on both alleles from these two infants, and electron microscopy of alveolar type 2 cells demonstrated abnormal lamellar body formation characteristic of this disorder. ABCA3 mutations were the basis for lung disease in all three patients. Children with lung disease due to ABCA3 deficiency may not have symptoms at birth. The finding of five novel mutations indicates allelic heterogeneity for ABCA3 mutations within the Norwegian population.
... Pediatr Res 1992;31:372-5 2. Krueger JM, Walter J, Dinarello CA, Wolff SM, Chedid L. Sleep-pr... more ... Pediatr Res 1992;31:372-5 2. Krueger JM, Walter J, Dinarello CA, Wolff SM, Chedid L. Sleep-promoting effects of endogenous pyrogen (interleukin-1). Am J Physiol 1984;246:994-9 3. Walter JS, Meyers P ... Kishimoto T. The biology of interleukin-6. Blood 1989;74:1-10 Mitzel SB. ...
sammenhenger er mange blant fagfolk: Samsoving øker risiko for krybbedød, samsoving fremmer velly... more sammenhenger er mange blant fagfolk: Samsoving øker risiko for krybbedød, samsoving fremmer vellykket amming, bruk av smokk kan forhindre krybbedød, bruk av smokk hindrer vellykket amming og amming kan beskytte mot krybbedød. Hensikten med denne rapporten var å vurdere tilgjengelig forskning på samsoving og bruk av smokk og hvilke effekter det har på amming og risiko for krybbedød. En bredt sammensatt utredningsgruppe har utarbeidet denne metodevurderingen. Metode: Vi lette systematisk etter relevant forskning i seks databaser. Søkene ble gjort i juni 2004, og oppdatert i februar 2005. 40 studier tilfredsstilte våre krav til studiedesign, metodisk kvalitet og tema. Resultater: • Barn som sover i foreldrenes seng, blir ammet mer enn barn som sover alene. Forskningen kan imidlertid ikke si oss sikkert om samsoving fremmer amming, eller om resultatet skyldes at det er mødre som ammer mye som velger å sove sammen med barna. • Forskning har ikke vist noen sammenheng mellom samsoving og ø...
CNS & Neurological Disorders - Drug Targets, 2018
Background: There is evidence that changes in neuro-immune responses coupled with dysfunctions in... more Background: There is evidence that changes in neuro-immune responses coupled with dysfunctions in serotonin metabolism underpin the pathophysiology of autism spectrum disorders (ASD). Objective: This study aimed to delineate whether ASD subgroups or characteristics show aberrations in tryptophan and brain-derived neurotrophic factor (BDNF) metabolism. Methods: 65 individuals with ASD (diagnosed according to ICD criteria) and 30 healthy control patients were included. Measured were serum levels of tryptophan, kynurenine (KYN), kynurenic acid (KA), quinolinic acid (QA), BDNF and PRO-BDNF and total blood 5-HT and 5-OH-tryptophan (5-HTP). Results: Elevated BDNF levels and lower tryptophan and KA levels were characteristics of both childhood autism and intellectual disability disorder, whilst elevated tryptophan and lower 5-HT synthesis were hallmarks of Asperger syndrome. A pathological MRI was associated with elevated tryptophan and lowered KA. Abnormal EEG results and dysmorphology we...
Background: Following birth asphyxia there is a robust inflammatory response. NLRP3 is a receptor... more Background: Following birth asphyxia there is a robust inflammatory response. NLRP3 is a receptor of the innate immune system. Upon activation, NLRP3 forms an inflammasome together with ASC and procaspase-1 to mediate release of IL-1β and IL-18. NLRP3 has previously been shown to be upregulated following neonatal hypoxic-ischemic (HI) brain injury in mice, but with no early effect on brain injury. Objective: We aimed to evaluate if deficiency of NLRP3 or ASC protects against neonatal HI brain damage 7 days after hypoxia-ischemia. Methods: C57BL/6J, NLRP3–/–, and ASC–/– mice were subjected to unilateral common carotid artery ligation followed by hypoxia at P9. Brain infarction, apoptosis, and microglial response were evaluated, as well as total RNA sequencing and examination of plasma levels of systemic proinflammatory cytokines. Results: NLRP3–/– mice showed significantly increased brain infarction volumes compared to wild-type (Wt) mice, while ASC–/– mice showed reduced brain infar...
Background: Early outcome predictors after delivery room cardiopulmonary resuscitation (CPR) of a... more Background: Early outcome predictors after delivery room cardiopulmonary resuscitation (CPR) of asphyxiated newborns are needed. Objectives: To investigate if cerebral (rScO2) and renal (rSrO2) tissue oxygen saturation 30 min after return of spontaneous circulation (ROSC) are different between surviving versus nonsurviving piglets with asphyxia-induced cardiac arrest and CPR. Further, to investigate the relationship of rScO2 and rSrO2 to cardiac output (CO), blood pressure (BP), and biochemical variables 30 min and 4 h after ROSC. Methods: Anesthetized, mechanically ventilated piglets (1-3 days, 1.7-2.4 kg) were used. rScO2, rSrO2, SpO2, right common carotid artery flow, and arterial BP were measured continuously. CO was measured with echocardiography. The piglets were asphyxiated until cardiac arrest and resuscitated. Piglets that survived 4 h after ROSC (n = 12) were compared with piglets that died before planned euthanasia at 4 h (n = 13). Left ventricular, and kidney and brain t...
Beckwith has two important questions regarding our paper recently published in Pediatrics. Becaus... more Beckwith has two important questions regarding our paper recently published in Pediatrics. Because most SIDS usually occurs unobserved during presumed sleep, the postmortem interval has to be estimated in each case. We based the estimation of time of death on the circumstances known: for instance, the time when the baby was put to sleep and the presence or absence of lividity or rigor mortis. This is a crude method, of course, but at least better than using the time last seen alive.
... component of 'natural' therapeutic surfactants exerts specific actions on M... more ... component of 'natural' therapeutic surfactants exerts specific actions on M and T-cell proliferation ... CD14 differentially reduced the formation of most mediators, anti-CD14 being more effective. ... Dysplasia and the Effect of Chorioamnionitis CP O'Neilla, b, DG Sweeta, BC Schockc ...
To investigate whether intractable respiratory distress syndrome in three Norwegian term infants ... more To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene. The genes encoding SP-B (SFTPB), SP-C (SFTPC), and ABCA3 (ABCA3) were sequenced from the parents of one infant and two unrelated infants with fatal neonatal lung disease. Lung tissue was examined by histology, immunohistochemistry and electron microscopy. Novel ABCA3 mutations were identified in each family. One patient had a phenotype differing from previous descriptions of this disease with an initial uneventful period. The diagnosis was established 19 years after death by analysing DNA material from the parents, with an ABCA3 mutation identified on one allele in each parent. The other two infants had more typical clinical courses with the onset of respiratory symptoms immediately after birth. ABCA3 mutations were identified on both alleles from these two infants, and electron microscopy of alveolar type 2 cells demonstrated abnormal lamellar body formation characteristic of this disorder. ABCA3 mutations were the basis for lung disease in all three patients. Children with lung disease due to ABCA3 deficiency may not have symptoms at birth. The finding of five novel mutations indicates allelic heterogeneity for ABCA3 mutations within the Norwegian population.
... Pediatr Res 1992;31:372-5 2. Krueger JM, Walter J, Dinarello CA, Wolff SM, Chedid L. Sleep-pr... more ... Pediatr Res 1992;31:372-5 2. Krueger JM, Walter J, Dinarello CA, Wolff SM, Chedid L. Sleep-promoting effects of endogenous pyrogen (interleukin-1). Am J Physiol 1984;246:994-9 3. Walter JS, Meyers P ... Kishimoto T. The biology of interleukin-6. Blood 1989;74:1-10 Mitzel SB. ...
sammenhenger er mange blant fagfolk: Samsoving øker risiko for krybbedød, samsoving fremmer velly... more sammenhenger er mange blant fagfolk: Samsoving øker risiko for krybbedød, samsoving fremmer vellykket amming, bruk av smokk kan forhindre krybbedød, bruk av smokk hindrer vellykket amming og amming kan beskytte mot krybbedød. Hensikten med denne rapporten var å vurdere tilgjengelig forskning på samsoving og bruk av smokk og hvilke effekter det har på amming og risiko for krybbedød. En bredt sammensatt utredningsgruppe har utarbeidet denne metodevurderingen. Metode: Vi lette systematisk etter relevant forskning i seks databaser. Søkene ble gjort i juni 2004, og oppdatert i februar 2005. 40 studier tilfredsstilte våre krav til studiedesign, metodisk kvalitet og tema. Resultater: • Barn som sover i foreldrenes seng, blir ammet mer enn barn som sover alene. Forskningen kan imidlertid ikke si oss sikkert om samsoving fremmer amming, eller om resultatet skyldes at det er mødre som ammer mye som velger å sove sammen med barna. • Forskning har ikke vist noen sammenheng mellom samsoving og ø...
CNS & Neurological Disorders - Drug Targets, 2018
Background: There is evidence that changes in neuro-immune responses coupled with dysfunctions in... more Background: There is evidence that changes in neuro-immune responses coupled with dysfunctions in serotonin metabolism underpin the pathophysiology of autism spectrum disorders (ASD). Objective: This study aimed to delineate whether ASD subgroups or characteristics show aberrations in tryptophan and brain-derived neurotrophic factor (BDNF) metabolism. Methods: 65 individuals with ASD (diagnosed according to ICD criteria) and 30 healthy control patients were included. Measured were serum levels of tryptophan, kynurenine (KYN), kynurenic acid (KA), quinolinic acid (QA), BDNF and PRO-BDNF and total blood 5-HT and 5-OH-tryptophan (5-HTP). Results: Elevated BDNF levels and lower tryptophan and KA levels were characteristics of both childhood autism and intellectual disability disorder, whilst elevated tryptophan and lower 5-HT synthesis were hallmarks of Asperger syndrome. A pathological MRI was associated with elevated tryptophan and lowered KA. Abnormal EEG results and dysmorphology we...
Background: Following birth asphyxia there is a robust inflammatory response. NLRP3 is a receptor... more Background: Following birth asphyxia there is a robust inflammatory response. NLRP3 is a receptor of the innate immune system. Upon activation, NLRP3 forms an inflammasome together with ASC and procaspase-1 to mediate release of IL-1β and IL-18. NLRP3 has previously been shown to be upregulated following neonatal hypoxic-ischemic (HI) brain injury in mice, but with no early effect on brain injury. Objective: We aimed to evaluate if deficiency of NLRP3 or ASC protects against neonatal HI brain damage 7 days after hypoxia-ischemia. Methods: C57BL/6J, NLRP3–/–, and ASC–/– mice were subjected to unilateral common carotid artery ligation followed by hypoxia at P9. Brain infarction, apoptosis, and microglial response were evaluated, as well as total RNA sequencing and examination of plasma levels of systemic proinflammatory cytokines. Results: NLRP3–/– mice showed significantly increased brain infarction volumes compared to wild-type (Wt) mice, while ASC–/– mice showed reduced brain infar...
Background: Early outcome predictors after delivery room cardiopulmonary resuscitation (CPR) of a... more Background: Early outcome predictors after delivery room cardiopulmonary resuscitation (CPR) of asphyxiated newborns are needed. Objectives: To investigate if cerebral (rScO2) and renal (rSrO2) tissue oxygen saturation 30 min after return of spontaneous circulation (ROSC) are different between surviving versus nonsurviving piglets with asphyxia-induced cardiac arrest and CPR. Further, to investigate the relationship of rScO2 and rSrO2 to cardiac output (CO), blood pressure (BP), and biochemical variables 30 min and 4 h after ROSC. Methods: Anesthetized, mechanically ventilated piglets (1-3 days, 1.7-2.4 kg) were used. rScO2, rSrO2, SpO2, right common carotid artery flow, and arterial BP were measured continuously. CO was measured with echocardiography. The piglets were asphyxiated until cardiac arrest and resuscitated. Piglets that survived 4 h after ROSC (n = 12) were compared with piglets that died before planned euthanasia at 4 h (n = 13). Left ventricular, and kidney and brain t...
Beckwith has two important questions regarding our paper recently published in Pediatrics. Becaus... more Beckwith has two important questions regarding our paper recently published in Pediatrics. Because most SIDS usually occurs unobserved during presumed sleep, the postmortem interval has to be estimated in each case. We based the estimation of time of death on the circumstances known: for instance, the time when the baby was put to sleep and the presence or absence of lividity or rigor mortis. This is a crude method, of course, but at least better than using the time last seen alive.
... component of 'natural' therapeutic surfactants exerts specific actions on M... more ... component of 'natural' therapeutic surfactants exerts specific actions on M and T-cell proliferation ... CD14 differentially reduced the formation of most mediators, anti-CD14 being more effective. ... Dysplasia and the Effect of Chorioamnionitis CP O'Neilla, b, DG Sweeta, BC Schockc ...
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