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  • 1.
    Ambrosi, Aurelie
    et al.
    Department of Medicine, Karolinska Institutet, Stockholm, Sweden.
    Salomonsson, Stina
    Eliasson, Hakan
    Zeffer, Elisabeth
    Skog, Amanda
    Dzikaite, Vijole
    Bergman, Gunnar
    Fernlund, Eva
    Tingstrom, Joanna
    Theander, Elke
    Rydberg, Annika
    Skogh, Thomas
    Öhman, Annika
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Lundstrom, Ulla
    Mellander, Mats
    Winqvist, Ola
    Fored, Michael
    Ekbom, Anders
    Alfredsson, Lars
    Kallberg, Henrik
    Olsson, Tomas
    Gadler, Fredrik
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Kockum, Ingrid
    Sonesson, Sven-Erik
    Wahren-Herlenius, Marie
    Department of Medicine, Karolinska Institutet, Stockholm, Sweden.
    Development of heart block in children of SSA/SSB-autoantibody-positive women is associated with maternal age and displays a season-of-birth pattern2012In: Annals of the Rheumatic Diseases, ISSN 0003-4967, E-ISSN 1468-2060, Vol. 71, no 3, p. 334-340Article in journal (Refereed)
    Abstract [en]

    Objective Congenital heart block may develop in the fetuses of Ro/SSA-positive and La/SSB-positive mothers. Recurrence rates of only 10-20% despite persisting maternal antibodies indicate that additional factors are critical for the establishment of heart block. The authors investigated the influence of other maternal and fetal factors on heart block development in a Swedish population-based cohort.

    Methods The influence of fetal gender, maternal age, parity and time of birth on heart block development was analysed in 145 families, including Ro/La-positive (n=190) and Ro/La-negative (n=165) pregnancies.

    Results There was a recurrence rate of 12.1% in Ro/La-positive women, and no recurrence in Ro/La-negative women. Fetal gender and parity did not influence the development of heart block in either group. Maternal age in Ro/La-positive pregnancies with a child affected by heart block was, however, significantly higher than in pregnancies resulting in babies without heart block (p<0.05). Seasonal timing of pregnancy influenced the outcome. Gestational susceptibility weeks 18-24 occurring during January-March correlated with a higher proportion of children with heart block and lower vitamin D levels during the same period in a representative sample of Swedish women and a corresponding higher proportion of children with heart block born in the summer (p<0.02). Maternal age or seasonal timing of pregnancy did not affect the outcome in Ro/La-negative pregnancies.

    Conclusion This study identifies maternal age and seasonal timing of pregnancy as novel risk factors for heart block development in children of Ro/La-positive women. These observations may be useful for counselling when pregnancy is considered.

  • 2. Bland, Richard D.
    et al.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Gunnar Sedin Obituary2014In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 103, no 8, p. 893-893Article in journal (Refereed)
  • 3. Chetaille, Philippe
    et al.
    Preuss, Christoph
    Burkhard, Silja
    Cote, Jean-Marc
    Houde, Christine
    Castilloux, Julie
    Piche, Jessica
    Gosset, Natacha
    Leclerc, Severine
    Wuennemann, Florian
    Thibeault, Maryse
    Gagnon, Carmen
    Galli, Antonella
    Tuck, Elizabeth
    Hickson, Gilles R.
    El Amine, Nour
    Boufaied, Ines
    Lemyre, Emmanuelle
    Barbara, Pascal de Santa
    Faure, Sandrine
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Cameron, Michel
    Dietz, Harry C.
    Gallo-McFarlane, Elena
    Benson, D. Woodrow
    Moreau, Claudia
    Labuda, Damian
    Zhan, Shing H.
    Shen, Yaoqing
    Jomphe, Michele
    Jones, Steven J. M.
    Bakkers, Jeroen
    Andelfinger, Gregor
    Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm2014In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 46, no 11, p. 1245-1249Article in journal (Refereed)
    Abstract [en]

    The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome. Cultured dermal fibroblasts from affected individuals showed accelerated cell cycle progression, a higher rate of senescence and enhanced activation of TGF-beta signaling. Karyotypes showed the typical railroad appearance of a centromeric cohesion defect. Tissues derived from affected individuals displayed pathological changes in both the enteric nervous system and smooth muscle. Morpholino-induced knockdown of sgol1 in zebrafish recapitulated the abnormalities seen in humans with CAID syndrome. Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.

  • 4. Ehrhardt, Harald
    et al.
    Sindelar, Richard
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Rieger-Fackeldey, Esther
    Schaller, Peter
    Schulze, Andreas
    Sedin, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Physiology and Medical Biophysics.
    Effects of the inspiratory pressure waveform during patient-triggered ventilation on pulmonary stretch receptor and phrenic nerve activity in cats2001In: Critical Care Medicine, ISSN 0090-3493, E-ISSN 1530-0293, Vol. 29, no 6, p. 1207-1214Article in journal (Refereed)
    Abstract [en]

    Objective:

    To examine the effects of square wave, sinusoidal, and linear inspiratory pressure waveforms during pressure-controlled assist/control ventilation on the firing pattern of pulmonary stretch receptors and phrenic nerve activity.

    Design:

    Experimental, comparative study.

    Setting:

    Research laboratory at a university biomedical center.

    Subjects:

    Nine anesthetized, endotracheally intubated young cats (2.5–3.4 kg).

    Intervention:

    With interposed periods of continuous positive airway pressure (0.2 kPa), each cat was exposed to periods of assist/control ventilation with three different pressure waveforms, where the peak inspiratory pressure (0.74 ± 0.13 kPa), end-expiratory pressure (0.2 ± 0.02 kPa), and tidal volume (14.9 ± 5.22 mL/kg) were kept constant. Preset controlled ventilator rate was set below the rate of spontaneous breathing, and the mechanical inflation time equaled the inspiratory time during spontaneous breathing on continuous positive airway pressure.

    Measurements and Main Results:

    Respiratory rate and arterial blood gases did not change between the three pressure waveforms during assist/control ventilation. Peak pulmonary stretch receptor activity was lower and mean phrenic nerve activity higher during continuous positive airway pressure than during assist/control ventilation (p < .05). Peak inspiratory pulmonary stretch receptor activity was the same with all three pressure waveforms (82 ± 17 impulses·sec-1) but occurred earlier with square wave than with sinusoidal or linear pressure waveforms (p < .05). The total number of impulses in the phrenic nerve activity burst was smaller with square wave than with the other two pressure waveforms (0.21 ± 0.17 vs. 0.33 ± 0.27 and 0.42 ± 0.30 arbitrary units;p < .05), and the phrenic nerve activity burst duration was shorter with square wave (1.10 ± 0.45 vs. 1.54 ± 0.36 and 1.64 ± 0.25 secs;p < .05).

    Conclusion:

    Square wave pressure waveform during pressure-controlled assist/control ventilation strongly inhibits spontaneous inspiratory activity in cats. One mechanism for this inhibition is earlier and sustained peak pulmonary stretch receptor activity during inspiration. These findings show that differences in inspiratory pressure waveforms influence the spontaneous breathing effort during assist/control ventilation in cats.

  • 5.
    Ekvall, Sara
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Sjörs, Kerstin
    Cent Hosp Vasteras, Dept Pediat, Vasteras, Sweden.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Vihinen, Mauno
    Lund Univ, Dept Expt Med Sci, Lund, Sweden.
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Bondeson, Marie-Louise
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome2014In: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 164, no 3, p. 579-587Article in journal (Refereed)
    Abstract [en]

    Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvement of additional RASopathy-associated genes in NFNS is, however, very limited. We present a comprehensive clinical and molecular analysis of eight affected individuals from three unrelated families displaying features of NF1 and NFNS. The genetic etiology of the clinical phenotypes was investigated by mutation analysis, including NF1, PTPN11, SOS1, KRAS, NRAS, BRAF, RAF1, SHOC2, SPRED1, MAP2K1, MAP2K2, and CBL. All three families harbored a heterozygous NF1 variant, where the first family had a missense variant, c.5425C>T;p.R1809C, the second family a recurrent 4bp-deletion, c.6789_6792delTTAC;p.Y2264Tfs*6, and the third family a splice-site variant, c.2991-1G>A, resulting in skipping of exon 18 and an in-frame deletion of 41 amino acids. These NF1 variants have all previously been reported in NF1 patients. Surprisingly, both c.6789_6792delTTAC and c.2991-1G>A are frequently associated with NF1, but association to NFNS has, to our knowledge, not previously been reported. Our results support the notion that NFNS represents a variant of NF1, genetically distinct from NS, and is caused by mutations in NF1, some of which also cause classical NF1. Due to phenotypic overlap between NFNS and NS, we propose screening for NF1 mutations in NS patients, preferentially when café-au-lait spots are present.

  • 6. Gorgen, Sabrina
    et al.
    Ostberg, Therese
    Salomonsson, Stina
    Ding, Bo
    Eliasson, Hakan
    Malarstig, Anders
    Alfredsson, Lars
    Klareskog, Lars
    Hamsten, Anders
    Olsson, Tomas
    Axelsson, Tomas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
    Gadler, Fredrik
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Sonesson, Sven-Erik
    Kockum, Ingrid
    Wahren-Herlenius, Marie
    The HLA Locus Contains Novel Foetal Susceptibility Alleles For Congenital Heart Block with Significant Paternal Influence2013In: Annals of the Rheumatic Diseases, ISSN 0003-4967, E-ISSN 1468-2060, Vol. 72, no S1, p. A56-A56Article in journal (Other academic)
  • 7.
    Hamberg, Anna-Karin
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Clinical pharmacogenomics and osteoporosis.
    Friberg, Lena E
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Pharmacy, Department of Pharmaceutical Biosciences.
    Hanséus, Katarina
    Barmhjärtcentrum, Skånes Universietessjukhus, Lund.
    Ekman-Joelsson, Britt-Marie
    Drottnings Silvias Barnsjukhus, Sahlgrenska Universitetssjukhuset, Göteborg.
    Sunnegårdh, Jan
    Drottnings Silvias Barnsjukhus, Sahlgrenska Universitetssjukhuset, Göteborg.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Lundell, Bo
    Jonsson, E. Niclas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Pharmacy, Department of Pharmaceutical Biosciences.
    Wadelius, Mia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Clinical pharmacogenomics and osteoporosis.
    Warfarin dose prediction in children using pharmacometric bridging: comparison with published pharmacogenetic dosing algorithms2013In: European Journal of Clinical Pharmacology, ISSN 0031-6970, E-ISSN 1432-1041, Vol. 69, no 6, p. 1275-1283Article in journal (Refereed)
    Abstract [en]

    Purpose

    Numerous studies have investigated causes of warfarin dose variability in adults whereas studies in children are limited both in numbers and size. Mechanism-based population modelling provides an opportunity to condense and propagate prior knowledge from one population to another. The main objectives with this study were to evaluate the predictive performance of a theoretically bridged adult warfarin model in children, and to compare accuracy in dose prediction relative to published warfarin algorithms for children.

    Method

    An adult population PK/PD-model for warfarin, with CYP2C9 and VKORC1 genotype, age and target INR as dose predictors, was bridged to children using allometric scaling methods. Its predictive properties were evaluated in an external dataset of children 0-18 years old, including comparison of dose prediction accuracy with three pharmacogenetics-based algorithms for children.

    Results

    Overall, the bridged model predicted INR response well in 64 warfarin treated Swedish children (median age 4.3 years), but with a tendency to over predict INR in children ≤ 2 years old. The bridged model predicted 20 of 49 children (41%) within ± 20% of actual maintenance dose (median age 7.2 years). In comparison the published dosing algorithms predicted 33-41% of the children within ± 20% of actual dose. Dose optimization with the bridged model based on up to three individual INR observations increased the proportion within ± 20% of actual dose to 70%.

    Conclusion

    A mechanism-based population model developed on adult data provides a promising first step towards more individualized warfarin therapy in children.

  • 8.
    Jonzon, A
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Congenital complete atrioventricular block. A pace in time saves lives(?).2002In: Europace, Vol. 4, p. 343-Article in journal (Refereed)
  • 9.
    Jonzon, Anders
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Arytmier hos barn2006In: Barnbladet, no 3, p. 12-14Article in journal (Other scientific)
  • 10. Lutzen, Therese
    et al.
    Jonzon, Anders
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Syndrom och hjärtfel2006In: Pediatrisk Endokrinologi, Vol. 20, p. 52-59Article in journal (Refereed)
  • 11.
    Matsson, Hans
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Eason, Jacqueline
    Bookwalter, Carol S.
    Klar, Joakim
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Gustavsson, Peter
    Sunnegårdh, Jan
    Enell, Henrik
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Vikkula, Miikka
    Gutierrez, Ilse
    Granados-Riveron, Javier
    Pope, Mark
    Bu'Lock, Frances
    Cox, Jane
    Robinson, Thelma E.
    Song, Feifei
    Brook, David J.
    Marston, Steven
    Trybus, Kathleen M.
    Dahl, Niklas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Alpha-cardiac actin mutations produce atrial septal defects2008In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 17, no 2, p. 256-265Article in journal (Refereed)
    Abstract [en]

    Atrial septal defect (ASD) is one of the most frequent congenital heart defects (CHDs) with a variable phenotypic effect depending on the size of the septal shunt. We identified two pedigrees comprising 20 members segregating isolated autosomal dominant secundum ASD. By genetic mapping, we identified the gene-encoding alpha-cardiac actin (ACTC1), which is essential for cardiac contraction, as the likely candidate. A mutation screen of the coding regions of ACTC1 revealed a founder mutation predicting an M123V substitution in affected individuals of both pedigrees. Functional analysis of ACTC1 with an M123V substitution shows a reduced affinity for myosin, but with retained actomyosin motor properties. We also screened 408 sporadic patients with CHDs and identified a case with ASD and a 17-bp deletion in ACTC1 predicting a non-functional protein. Morpholino (MO) knockdown of ACTC1 in chick embryos produces delayed looping and reduced atrial septa, supporting a developmental role for this protein. The combined results indicate, for the first time, that ACTC1 mutations or reduced ACTC1 levels may lead to ASD without signs of cardiomyopathy.

  • 12. Meisgen, Sabrina
    et al.
    Ostberg, Therese
    Salomonsson, Stina
    Ding, Bo
    Eliasson, Håkan
    Mälarstig, Anders
    Alfredsson, Lars
    Klareskog, Lars
    Hamsten, Anders
    Olsson, Tomas
    Axelsson, Tomas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
    Gadler, Fredrik
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Sonesson, Sven-Erik
    Kockum, Ingrid
    Wahren-Herlenius, Marie
    The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence2014In: Journal of Internal Medicine, ISSN 0954-6820, E-ISSN 1365-2796, Vol. 275, no 6, p. 640-651Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: The main aim of this study was to identify foetal susceptibility genes on chromosome six for Ro/SSA autoantibody-mediated congenital heart block.

    SUBJECTS AND DESIGN: Single nucleotide polymorphism (SNP) genotyping of individuals in the Swedish Congenital Heart Block (CHB) study population was performed. Low-resolution HLA-A, -Cw and -DRB1 allele typing was carried out in 86 families comprising 339 individuals (86 Ro/SSA autoantibody-positive mothers, 71 fathers, 87 CHB index cases, and 95 unaffected siblings).

    RESULTS: A case-control comparison between index cases and population-based out-of-study controls (n=1710) revealed association of CHB with 15 SNPs in the 6p21.3 MHC locus at a chromosome-wide significance of p<2.59×10(-6) (OR 2.21-3.12). In a family-based analysis of association of SNP markers as well as distinct MHC class I and II alleles with CHB, HLA-DRB1*04 and HLA-Cw*05 variants were significantly more frequently transmitted to affected individuals (p<0.03 and p<0.05, respectively), while HLA-DRB1*13 and HLA-Cw*06 variants were significantly less often transmitted to affected children (p<0.04 and p<0.03). We further observed marked association of increased paternal (but not maternal) HLA-DRB1*04 transmission to affected offspring (p<0.02).

    CONCLUSIONS: HLA-DRB1*04 and HLA-Cw*05 were identified as novel foetal HLA allele variants that confer susceptibility to CHB in response to Ro/SSA autoantibody exposure, while DRB1*13 and Cw*06 emerged as protective alleles. Additionally, we demonstrated a paternal contribution to foetal susceptibility to CHB for the first time.

  • 13.
    Naumburg, E
    et al.
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Bellocco, R
    Cnattingius, S
    Jonzon, A
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Ekbom, A
    Perinatal exposure to infection and risk of childhood leukemia2002In: Med Pediatr Oncol, Vol. 38, p. 391-Article in journal (Refereed)
  • 14.
    Naumburg, E
    et al.
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Bellocco, R
    Cnattingius, S
    Jonzon, A
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Ekbom, A
    Supplementary oxygen and risk of childhood lymphatic leukaemia.2002In: Acta Paediatr, Vol. 91, p. 1328-Article in journal (Refereed)
  • 15.
    Olsson, Karl Wilhelm
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Sindelar, Richard
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    A High Ductal Flow Velocity is Associated with Successful Pharmacological Closure of Patent Ductus Arteriosus in Infants 22-27 Weeks Gestational Age2012In: Critical Care Research and Practice, ISSN 2090-1305, E-ISSN 2090-1313, p. 715265-Article in journal (Refereed)
    Abstract [en]

    Objective:

    To identify factors affecting closure of patent ductus arteriosus (PDA) in newborn infants born at 22-27 weeks gestational age (GA) during pharmacological treatment with cyclooxygenase inhibitors.

    Method:

    Infants born at 22-27 weeks of GA between January 2006 and December 2009 who had been treated pharmacologically for PDA were identified retrospectively. Medical records were assessed for clinical, ventilatory and outcome parameters. Echocardiographic examinations during treatment were reviewed.

    Results:

    Fifty-six infants were included in the study. Overall success rate of ductal closure with pharmacological treatment was 52%. Infants whose PDA was successfully closed had a higher GA (25+4 weeks vs. 24+3 weeks; P=0.047), and a higher pre-treatment left to right maximal ductal flow velocity (1.6 m/s vs. 1.1 m/s; P=0.023). Correcting for GA, preeclampsia, antenatal steroids, and age at treatment start, a higher maximal ductal flow velocity was still associated with successful ductal closure (OR 3.04, p=0.049).

    Conclusion:

    Maximal ductal flow velocity was independently associated with success of PDA treatment.

  • 16.
    Rieger-Fackeldey, Esther
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Physiology.
    Sindelar, Richard
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Physiology.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Physiology.
    Schulze, Andreas
    Sedin, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Physiology.
    Inhibition of breathing after Surfactant Depletion is Achieved at a Higher Arterial PCO2 during Ventilation with Liquid than with Gas2005In: Respiratory Research, ISSN 1465-9921, E-ISSN 1465-993X, Vol. 6, p. 24-Article in journal (Refereed)
    Abstract [en]

    Background

    Inhibition of phrenic nerve activity (PNA) can be achieved when alveolar ventilation is adequate and when stretching of lung tissue stimulates mechanoreceptors to inhibit inspiratory activity. During mechanical ventilation under different lung conditions, inhibition of PNA can provide a physiological setting at which ventilatory parameters can be compared and related to arterial blood gases and pH.

    Objective

    To study lung mechanics and gas exchange at inhibition of PNA during controlled gas ventilation (GV) and during partial liquid ventilation (PLV) before and after lung lavage.

    Methods

    Nine anaesthetised, mechanically ventilated young cats (age 3.8 ± 0.5 months, weight 2.3 ± 0.1 kg) (mean ± SD) were studied with stepwise increases in peak inspiratory pressure (PIP) until total inhibition of PNA was attained before lavage (with GV) and after lavage (GV and PLV). Tidal volume (Vt), PIP, oesophageal pressure and arterial blood gases were measured at inhibition of PNA. One way repeated measures analysis of variance and Student Newman Keuls-tests were used for statistical analysis.

    Results

    During GV, inhibition of PNA occurred at lower PIP, transpulmonary pressure (Ptp) and Vt before than after lung lavage. After lavage, inhibition of inspiratory activity was achieved at the same PIP, Ptp and Vt during GV and PLV, but occurred at a higher PaCO2 during PLV. After lavage compliance at inhibition was almost the same during GV and PLV and resistance was lower during GV than during PLV.

    Conclusion

    Inhibition of inspiratory activity occurs at a higher PaCO2 during PLV than during GV in cats with surfactant-depleted lungs. This could indicate that PLV induces better recruitment of mechanoreceptors than GV.

  • 17.
    Rieger-Fackeldey, Esther
    et al.
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Sindelar, Richard
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Jonzon, Anders
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Schulze, Andreas
    Sedin, Gunnar
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Pulmonary stretch receptor activity during Partial Liquid Ventilation in Cats with Healthy Lungs.2004In: Biol Neonate, ISSN 0006-3126, Vol. 86, no 2, p. 73-80Article in journal (Other scientific)
  • 18.
    Rieger-Fackeldey, Esther
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Sindelar, Richard
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Sedin, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Bronchopulmonary C-fibers modulate the breathing pattern in surfactant-depleted juvenile cats2008In: Respiratory Physiology & Neurobiology, ISSN 1569-9048, E-ISSN 1878-1519, Vol. 160, no 3, p. 341-349Article in journal (Refereed)
    Abstract [en]

    The aim of this study was to investigate the influence of nonmyelinated C-fibers on the breathing pattern by cooling the vagal nerves to temperatures at which myelinated nerve transmission from pulmonary stretch receptors is blocked (+7 degrees C) and further at which nonmyelinated fiber input is blocked (0 degrees C), in anaesthetized spontaneously breathing juvenile cats with normal (L(N)), surfactant-depleted (L(D)) and surfactant-treated (L(T)) lungs. In L(N), vagal cooling from +7 to 0 degrees C decreased respiratory frequency (f(R); -8%; p < 0.01), and increased tidal volume (V(T); +40%; p < 0.01). In the presence of shallow fast breathing in L(D), f(R) decreased (+38 to +7 degrees C: -26%; p < 0.015 and +7 to 0 degrees C: -24%; p < 0.001) and V(T) increased (+37%; p < 0.049 and +88%; p < 0.016). In L(T), f(R) decreased (+7 to 0 degrees C: -21%; p < 0.001), whereas V(T) remained the same at 0 degrees C (+12%; NS). These findings show for the first time that the activity of bronchopulmonary C-fibers have a prominent role in modulating the breathing pattern in juvenile cats with surfactant-depleted lungs.

  • 19.
    Salomonsson, S.
    et al.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    Dzikaite, V.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    Zeffer, E.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    Eliasson, H.
    Department of Women and Child Health, Karolinska Institutet, Stockholm, Sweden.
    Ambrosi, A.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    Bergman, G.
    Department of Women and Child Health, Karolinska Institutet, Stockholm, Sweden.
    Fernlund, E.
    Department of Pediatric Cardiology, Skane University Hospital, Lund, Sweden.
    Theander, E.
    Rheumatology Department, Skåne University Hospital, Malmö, Sweden.
    Öhman, Annika
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Rydberg, A.
    Department of Clinical Sciences, Paediatrics, Umeå University, Sweden.
    Skogh, T.
    Rheumatology/AIR, Clinical and Experimental Medicine, Linköping University, Sweden.
    Wallberg-Jonsson, S.
    Department of Rheumatology, Umeå University, Sweden.
    Elfving, A.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    Fored, M.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    Ekbom, A.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    Lundstrom, U.
    Department of Pediatric Cardiology, The Queen Silvia Children′s Hospital, Sahlgrenska University Hospital, Göteborg, Sweden.
    Mellander, M.
    Department of Pediatric Cardiology, The Queen Silvia Children′s Hospital, Sahlgrenska University Hospital, Göteborg, Sweden.
    Winqvist, O.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    Sonesson, S. -E
    Department of Women and Child Health, Karolinska Institutet, Stockholm, Sweden.
    Gadler, F.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Wahren-Herlenius, M.
    Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
    A Population-based Investigation of the Autoantibody Profile in Mothers of Children with Atrioventricular Block2011In: Scandinavian Journal of Immunology, ISSN 0300-9475, E-ISSN 1365-3083, Vol. 74, no 5, p. 511-517Article in journal (Refereed)
    Abstract [en]

    The objective of the study was to investigate the antigen specificity and occurrence of individual autoantibodies in mothers of children diagnosed with atrioventricular (AV) block in a nation-wide setting. Patients with AV block detected before 15 years of age were identified using national quality registries as well as a network of pediatric and adult cardiologists and rheumatologists at the six university hospitals in Sweden. Patients with gross heart malformations, surgically or infectiously induced blocks were excluded. Blood samples were obtained from the mothers and maternal autoantibody profile, including the occurrence of antibodies against Ro52, Ro60, La, SmB, SmD, RNP-70k, RNP-A, RNP-C, CENP-C, Scl-70, Jo-1, ribosomal RNP and histones was investigated in 193 mothers of children with AV block by immunoblotting and ELISA. Autoantibody reactivity was detected in 48% (93/193) of the mothers of children with AV block. In autoantibody-positive mothers, the vast majority, 95% (88/93), had antibodies against Ro52, while 63% (59/93) had autoantibodies to Ro60 and 58% (54/93) had autoantibodies to La. In addition, 13% (12/93) of the autoantibody-positive mothers had antibodies to other investigated antigens besides Ro52, Ro60 and La, and of these anti-histone antibodies were most commonly represented, detected in 8% (7/93) of the mothers. In conclusion, this Swedish population-based study confirms that maternal autoantibodies may associate with heart block in the child. Further, our data demonstrate a dominant role of Ro52 antibodies in association with AV block.

  • 20.
    Sindelar, Richard
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Diafragmal pacing och kongenital centralt hypoventilationssyndrom2013In: Terapikompendium i pediatrik, Uppsala: UAS , 2013, p. 1-3Chapter in book (Other academic)
  • 21.
    Sindelar, Richard
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    PDA hos underburna barn2013In: Terapikompendium i pediatrik, Uppsala: UAS , 2013, p. 1-3Chapter in book (Other academic)
  • 22.
    Sindelar, Richard
    et al.
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Jonzon, Anders
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Schulze, Andreas
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Sedin, Gunnar
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Surfactant replacement partially restores the activity of pulmonary stretch receptors in surfactant-depleted cats.2006In: J Appl Physiol, ISSN 8750-7587, Vol. 100, no 2, p. 594-601Article in journal (Refereed)
  • 23.
    Sindelar, Richard
    et al.
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Rieger-Fackeldey, Esther
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Jonzon, Anders
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Schaller, Peter
    Schulze, Andreas
    Sedin, Gunnar
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Maintained inspiratory activity during proportional assist ventilation in surfactant-depleted cats early after surfactant instillation: phrenic nerve and pulmonary stretch receptor activity.2006In: Respir Res, ISSN 1465-993X, Vol. 7, p. 38-Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: Inspiratory activity is a prerequisite for successful application of patient triggered ventilation such as proportional assist ventilation (PAV). It has recently been reported that surfactant instillation increases the activity of slowly adapting pulmonary stretch receptors (PSRs) followed by a shorter inspiratory time (Sindelar et al, J Appl Physiol, 2005 [Epub ahead of print]). Changes in lung mechanics, as observed in preterm infants with respiratory distress syndrome and after surfactant treatment, might therefore influence the inspiratory activity when applying PAV early after surfactant treatment. OBJECTIVE: To investigate the regulation of breathing and ventilatory response in surfactant-depleted young cats during PAV and during continuous positive airway pressure (CPAP) early after surfactant instillation in relation to phrenic nerve activity (PNA) and the activity of PSRs. METHODS: Seven anesthetized, endotracheally intubated young cats were exposed to periods of CPAP and PAV with the same end-expiratory pressure (0.2-0.5 kPa) before and after lung lavage and after surfactant instillation. PAV was set to compensate for 75% of the lung elastic recoil. RESULTS: Tidal volume and respiratory rate were higher with lower PaCO2 and higher PaO2 during PAV than during CPAP both before and after surfactant instillation (p < 0.05; both conditions). As an indicator of breathing effort, esophageal deflection pressure and PNA were lower during PAV than during CPAP in both conditions (p < 0.02). Peak PSR activity was higher and occurred earlier during PAV than during CPAP (p < 0.01), and correlated linearly with PNA duration in all conditions studied (p < 0.001). The inspiratory time decreased as tidal volume increased when CPAP was changed to PAV, with the highest correlation observed after surfactant instillation (r = -0.769). No apneic periods could be observed. CONCLUSION: PSR activity and the control of breathing are maintained during PAV in surfactant-depleted cats early after surfactant instillation, with a higher ventilatory response and a lower breathing effort than during CPAP.

  • 24.
    Stålhammar, Maria
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Håkansson, Lena Douhan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Sindelar, Richard
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Differential Neutrophil Chemotactic Response towards IL-8 and Bacterial N-formyl Peptides in Term Newborn Infants2017In: Upsala Journal of Medical Sciences, ISSN 0300-9734, E-ISSN 2000-1967, Vol. 122, no 1, p. 35-42Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: A prerequisite for an effective innate immunity is the migrative ability of neutrophils to respond to inflammatory and infectious agents such as the intermediate interleukin (IL)-8 and the end-target formyl-methionyl-leucyl-phenylalanine (fMLP) chemoattractants. The aim was to study the chemotactic capacity of neutrophils from newborn infants and adults in response to IL-8 and the bacterial peptide fMLP.

    METHODS: In the under-agarose cell migration assay, isolated leukocytes from healthy adults and from cord blood of healthy term newborn infants were studied with dose responses towards IL-8 and fMLP. The same number of leukocytes (1 × 10(5) cells), with the same distribution of neutrophils and monocytes, were analyzed in neonates and adults. Chemotaxis was distinguished from randomly migrating neutrophils, and the neutrophil pattern of migration, i.e. the migration distance and the number of migrating neutrophils per distance, was evaluated.

    RESULTS: In comparison to adults, fewer neutrophils from newborn infants migrated towards IL-8 and for a shorter distance (P < .01, respectively). The number of neutrophils migrating to different gradients of fMLP, the distance they migrated, and the correlation between the number and the distance were the same for neonates and adults. Random migration did not differ in any instance.

    CONCLUSION: Chemotaxis of neutrophils from newborn infants was as co-ordinated as neutrophils from adults in response to fMLP, whereas the response to IL-8 was reduced. The differential response of neutrophils from neonates to intermediate and end-target chemoattractants could indicate a reduced infectious response.

  • 25. Wall, K
    et al.
    Oddsson, H
    Ternestedt, Britt-Marie
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Nylander, Eva
    Schollin, Jens
    Thirty-year electrocardiographic follow-up after repair of tetralogy of Fallot or atrial septal defect2007In: Journal of Electrocardiology, ISSN 0022-0736, E-ISSN 1532-8430, Vol. 40, no 2, p. 214-217Article in journal (Refereed)
    Abstract [en]

    Background and Purpose

    Knowledge about long-term electrocardiographic changes after surgery for congenital heart disease is limited.

    Methods

    Eleven patients with corrected tetralogy of Fallot (ToF) and 14 with corrected atrial septal defect (ASD) were followed up at 20 and 30 years after surgery.

    Results

    Approximately 50% of the ASD group developed prolonged QRS duration. In the ToF group, 7 increased QRS duration by more than 20 milliseconds. Nearly all had right bundle-branch block, and 30% of them also had bifascicular block. Two in the ASD group developed first grade atrioventricular block. Five ASD and 6 ToF had prolonged corrected QT duration in the late postoperative phase.

    Conclusions

    Even after primarily good results of surgery in congenital heart disease, unknown late effects may occur not only in complex lesions such as ToF but also after ASD correction. Regular medical checkups are important after surgical correction in congenital heart disease.

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