oru.sePublications
Change search
Refine search result
1 - 15 of 15
CiteExportLink to result list
Permanent link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Rows per page
  • 5
  • 10
  • 20
  • 50
  • 100
  • 250
Sort
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
Select
The maximal number of hits you can export is 250. When you want to export more records please use the Create feeds function.
  • 1.
    Albertsson-Wikland, Kerstin
    et al.
    Goteborg Pediat Growth Res Ctr, Dept Pediat, Inst Clin Sci, Sahlgrenska Acad, Univ Gothenburg, Gothenburg, Sweden.
    Kriström, Berit
    Dept Clin Sci, Pediat Unit, Umeå Univ, Umeå, Sweden.
    Lundberg, Elena
    Dept Clin Sci, Pediat Unit, Umeå Univ, Umeå, Sweden.
    Aronson, A. Stefan
    Dept Pediat, Halmstad Cty Hosp, Halmstad, Sweden.
    Gustafsson, Jan
    Dept Womens & Childrens Hlth, Uppsala Univ, Uppsala, Sweden.
    Hagenäs, Lars
    Dept Womens & Childrens Hlth, Karolinska Inst, Stockholm, Sweden.
    Ivarsson, Sten-A.
    Dept Pediat, Lund Univ, Malmö, Sweden.
    Jonsson, Björn
    Dept Womens & Childrens Hlth, Uppsala Univ, Uppsala, Sweden.
    Ritzen, Martin
    Dept Womens & Childrens Hlth, Karolinska Inst, Stockholm, Sweden.
    Tuvemo, Torsten
    Dept Womens & Childrens Hlth, Uppsala Univ, Uppsala, Sweden.
    Westgren, Ulf
    Dept Pediat, Lund Univ, Malmo, Sweden.
    Westphal, Otto
    Goteborg Pediat Growth Res Ctr, Dept Pediat, Inst Clin Sci, Sahlgrenska Acad, Univ Gothenburg, Gothenburg, Sweden.
    Åman, Jan
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Growth hormone dose-dependent pubertal growth: a randomized trial in short children with low growth hormone secretion2014In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 82, no 3, p. 158-170Article in journal (Refereed)
    Abstract [en]

    Background/Aims: Growth hormone (GH) treatment regimens do not account for the pubertal increase in endogenous GH secretion. This study assessed whether increasing the GH dose and/or frequency of administration improves pubertal height gain and adult height (AH) in children with low GH secretion during stimulation tests, i. e. idiopathic isolated GH deficiency.

    Methods: A multicenter, randomized, clinical trial (No. 88-177) followed 111 children (96 boys) at study start from onset of puberty to AH who had received GH(33) mu g/kg/day for >= 1 year. They were randomized to receive 67 mu g/kg/day (GH(67)) given as one (GH(67x1); n = 35) or two daily injections (GH(33x2); n = 36), or to remain on a single 33 mu g/kg/day dose (GH(33x1); n = 40). Growth was assessed as height SDS gain for prepubertal, pubertal and total periods, as well as AH SDS versus the population and the midparental height.

    Results: Pubertal height SDS gain was greater for patients receiving a high dose (GH(67), 0.73) than a low dose (GH(33x1), 0.41, p < 0.05). AH(SDS) was greater on GH(67) (GH(67x1), -0.84; GH(33x2), -0.83) than GH(33) (-1.25, p < 0.05), and height SDS gain was greater on GH(67) than GH(33) (2.04 and 1.56, respectively; p < 0.01). All groups reached their target height SDS.

    Conclusion: Pubertal height SDS gain and AH SDS were dose dependent, with greater growth being observed for the GH(67) than the GH(33) randomization group; however, there were no differences between the once-and twice-daily GH(67) regimens. (C) 2014 S. Karger AG, Basel.

  • 2.
    Allbrand, Marianne
    et al.
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Åman, Jan
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Lodefalk, Maria
    Örebro University, School of Medical Sciences.
    Adipocytokines in placenta and cord blood in relation to maternal obesity, and foetal and postnatal growth of the child2015In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 82, no Suppl. 1, p. 47-48Article in journal (Other academic)
    Abstract [en]

    Background: The nutritional and hormonal state in utero may be a link between maternal obesity and obesity in the offspring. The gene expression in placentae in pregnancies complicated by diabetes is reduced for leptin, but increased for ghrelin. It is not known whether these genes’ expressions in placentae are altered in maternal obesity.

    Objectives and hypotheses: To compare obese and normal-weight women and their children concerning gene expressions of leptin and ghrelin in placentae; leptin, ghrelin, adiponectin, and C-peptide levels in cord blood, birth size and postnatal growth. Changes in the expression of these adipocytokines may lead to an altered hypothalamic sensitivity to leptin and ghrelin resulting in an increased risk of obesity in the offspring.

    Method: 32 women with pre-pregnancy obesity, but otherwise healthy, were compared to 32 matched, normal-weight controls. Full-term placenta biopsies were analysed with qPCR for leptin mRNA and ghrelin mRNA. Cord blood samples were examined with ELISA for leptin, ghrelin, adiponectin, and C-peptide concentrations. Birth size and postnatal growth of the children were collected from clinical registers at the Child Health Care Units.

    Results: The leptin and ghrelin gene expressions in placentae did not differ between obese and normal-weight women. The leptin concentration in cord blood was higher in children of obese mothers (P=0.021). It correlated with birth weight Z-score (r=0.467, P<0.001) and C-peptide level in cord blood (r=0.446, P<0.001). Children of obese women were slightly heavier at birth, but postnatal growth did not differ between groups. Children with birth weight  ≤−0.67 Z-score had higher ghrelin levels in cord blood than heavier children (P=0.042). The leptin level in cord blood correlated negatively with weight gain at 6 months (r=−0.332, P=0.009). The ghrelin level in cord blood correlated with weight gain at 3 months in girls (r=0.611, P=0.001), but not in boys. The adiponectin level in cord blood correlated negatively with length gain at 3 years in the obese group (r=−0.571, P=0.033), but not in the normal-weight group.

    Conclusion: Leptin and ghrelin placental gene expressions are not altered in obese women, but foetal adipocytokine production may influence early postnatal growth, possibly by influencing hunger signalling or insulin levels

  • 3.
    Andrade, Anenisia C.
    et al.
    Karolinska Inst, Stockholm, Sweden; Karolinska Univ Hosp, Stockholm, Sweden.
    Gkourogianni, Alexandra
    Karolinska Inst, Stockholm, Sweden; Karolinska Univ Hosp, Stockholm, Sweden.
    Segerlund, Emma
    Sunderby Hosp, Sunderby, Sweden.
    Werner-Sperker, Antje
    Sunderby Hosp, Sunderby, Sweden.
    Horemuzova, Eva
    Karolinska Inst, Stockholm, Sweden; Karolinska Univ Hosp, Stockholm, Sweden.
    Dahlgren, Jovanna
    Sahlgrenska Acad, Univ Gothenburg, Gothenburg, Sweden.
    Nilsson, Ola
    Örebro University, School of Medical Sciences. Karolinska Inst, Stockholm, Sweden; Karolinska Univ Hosp, Stockholm, Sweden.
    Short Stature Due To Two Novel Heterozygous Igf1r Mutations and Response To Gh Treatment2017In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 88, no Suppl. 1, p. 130-131, article id P1-842Article in journal (Other academic)
  • 4.
    Andrade, Anenisia C.
    et al.
    Division of Pediatric Endocrinology, Department of Women’s and Children’s Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
    Jee, Youn Hee
    Section of Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda MD, USA.
    Nilsson, Ola
    Örebro University, School of Medical Sciences. Division of Pediatric Endocrinology, Department of Women’s and Children’s Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden; Örebro University Hospital, Örebro, Sweden.
    New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth2017In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 88, no 1, p. 22-37Article, review/survey (Refereed)
    Abstract [en]

    Idiopathic short stature is a common condition with a heterogeneous etiology. Advances in genetic methods, including genome sequencing techniques and bioinformatics approaches, have emerged as important tools to identify the genetic defects in families with monogenic short stature. These findings have contributed to the understanding of growth regulation and indicate that growth plate chondrogenesis, and therefore linear growth, is governed by a large number of genes important for different signaling pathways and cellular functions, including genetic defects in hormonal regulation, paracrine signaling, cartilage matrix, and fundamental cellular processes. In addition, mutations in the same gene can cause a wide phenotypic spectrum depending on the severity and mode of inheritance of the mutation.

  • 5.
    Gkourogianni, Alexandra
    et al.
    Karolinska Institutet and University Hospital, Stockholm, Sweden.
    Segerlund, Emma
    Sunderby Hospital, Sunderbyn, Sweden.
    Hallgrimsdottir, Sigrun
    Karolinska Institutet and University Hospital, Stockholm, Sweden.
    Nilsson, Ola
    Örebro University, School of Medical Sciences. Karolinska Institutet and University Hospital, Stockholm, Sweden.
    Stattin, Eva-Lena
    Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant2018In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, no Suppl.1, p. 424-424Article in journal (Other academic)
    Abstract [en]

    Objectives: Heterozygous mutations in the aggrecan gene (ACAN) are associated with idiopathic short stature, with or without advanced bone age (BA), osteochondritis dissecans (OCD) and early onset of severe osteoarthritis (OA). Variable features also include midface hypoplasia, brachydactyly, short thumbs and intervertebral disc degenerative disease.

    Methods: We reviewed 173 radiographs in 22 individuals (8F:14M), (3shoulders, 10hands, 10wrists, 17spines, 10pelvis, 31hips, 79knees, 5 lower-legs, 4ankles, 4feet).Furthermore 2 computed tomography scans (1hip; 1knee), and 5 magnetic resonance scans (2hips; 3knees). All included individuals belong to a five generation Swedish family with short stature, OCD, and early onset OA (MIM#165800), caused by a pathogenic sequence variant, p.V2303M, in the C-type lectin domain of ACAN.

    Results: In the group of children (n=6; age ≤15yo; 3F:3M), six had moderately advanced BA (range:6-17.5months). There was no clear sign of a metaphyseal or epiphyseal dysplasia, but subtle defects of the distal radial growth plate were present in four children. There were 3 males with OCD in the knees and one of them also present-ed OCD of the hip, scoliosis and schmorl’s nodes of intervertebral discs. Actually he went through a derotation osteotomy in both hips and later a proximal tibia osteotomy and distal fibula osteotomy.Among 16 adult patients (5F:11M), 16 had OCD (7elbows,4 hips,13 knees, 5 patellas), 13 developed early onset (>40y) OA, (1shoulder, 5elbows, 3 spines, 1 metatarsophalangeal joint, 6 hips, 12 knees, 1 patella). Radiological manifestations of the spine were detected in 4 patients and included 1 scoliosis, 1 spina bifida occulta, 1 platyspondyly, 1 schmorl’s nodes, and 3 with lowering of the intervertebral discs.Moreover 8 adult patients (3F:5M) have been operated, 4 pa-tients had hip replacement (1F:3M;3bilateral;1unilateral) and 5 knee arthroplasties (2F:3M; 3bilateral;2unilateral) in particular 5 patients had tibia osteotomy of which one had combined tibia and fibula osteotomy. We measured all phalanges of eight adult hand x-rays and found no brachydactyly.

    Conclusions: The pathogenic heterozygous p.V2303M variant in the ACAN gene causes mildly disproportionate short stature with early-onset OA and intervertebral disc degeneration often requiring multiple orthopedic interventions. Radiologic findings, included moderately advanced BA, OCD in knees, hips, and elbows as well as OA in 13 individuals. Further studies are needed to identify preventive measures that may slow the progression of OA and intervertebral disc disease and to determine the role of rhGH to improve final height

  • 6.
    Lodefalk, Maria
    et al.
    Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; Department of Paediatrics, Örebro University Hospital, Örebro, Sweden.
    Carlsson-Skwirut, C.
    Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden.
    Holst, J. J.
    Department of Medical Physiology, Panum Institute, Copenhagen, Denmark .
    Aman, J.
    Department of Paediatrics, Örebro University Hospital, Örebro, Sweden.
    Bang, P
    Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden.
    Effects of fat supplementation on postprandial GIP, GLP-1, ghrelin and IGFBP-1 levels: a pilot study on adolescents with type 1 diabetes2010In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 73, no 5, p. 355-62Article in journal (Refereed)
    Abstract [en]

    Aims: To compare the responses of GIP, GLP-1, ghrelin and IGFBP-1 between meals with different fat and energy content in adolescents with type 1 diabetes (T1DM) and to relate them to gastric emptying and glycaemia.

    Methods: On different days and in a random order, 7 adolescents with T1DM ingested a high- and low-fat meal (fat content: 38 and 2 g, energy content: 640 and 320 kcal, respectively). At normoglycaemia, the same prandial insulin dose was given at both meals and to all subjects. Postprandial blood samples were taken repeatedly over 4 hours. Gastric emptying was estimated by the paracetamol absorption method.

    Results: The area under the curve (AUC) for GIP(0-240 min) and for GLP-1(0-120 min) was larger, but smaller for relative ghrelin(0-240 min), after the high-fat meal (p = 0.002, 0.030 and 0.043, respectively). IGFBP-1 decreased significantly, but not differently, after the meals. Larger GLP-1 secretion correlated with slower gastric emptying (p = 0.029) and higher fasting ghrelin levels correlated with lower postprandial glycaemia (p = 0.007).

    Conclusion: In adolescents with T1DM, the postprandial responses of GIP, GLP-1 and ghrelin, but not that of IGFBP-1, depend more on meal size than on insulin.

  • 7.
    Lodefalk, Maria
    et al.
    Örebro University, School of Medical Sciences. Department of Paediatrics, Örebro University Hospital, Örebro, Sweden.
    Frykholm, Carina
    Immunology, Genetics, and Pathology, University of Uppsala, Uppsala, Sweden.
    Esbjörner, Elisabeth
    Department of Paediatrics, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
    Ljunggren, Östen
    Medical Sciences, University of Uppsala, Uppsala, Sweden.
    Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication2016In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 85, no 3, p. 213-218Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: Partial duplication of 2p is a rare condition that causes facial anomalies, psychomotor delay, and growth failure. Hypercalcaemia is rare in children. So far, duplication of 2p has never been associated with hypercalcaemia.

    METHODS: Here, we report a girl with a partial duplication of 2p presenting with moderate to severe hypercalcaemia at the age of 2 years. She also had hypercalciuria, nephrocalcinosis, decreased renal function, and secondary hyperparathyroidism at presentation. She was thoroughly investigated, including genetic testing of the CYP24A1, CASR, ALPL, and NOD2 genes, to determine the cause of hypercalcaemia.

    RESULTS: 1,25-dihydroxyvitamin D levels were increased. Hypercalcaemia and hypercalciuria responded well to glucocorticoids but not to cinacalcet. Hyperparathyroidism resolved with improving renal function. Apart from the known duplication of 2p, no pathogenic variants were detected in the studied genes. The duplication of 2p contains the PPP3R1 gene, which encodes for the calcineurin B subunit.

    CONCLUSION: We conclude that partial duplication of 2p can be associated with hypercalcaemia and hypercalciuria and hypothesise that the underlying mechanism is an increased extra-renal, parathyroid hormone-independent 25-hydroxyvitamin D 1α-hydroxylase activity, leading to raised amounts of 1,25-dihydroxyvitamin D. The increased enzymatic activity could possibly be caused by calcineurin B subunit-related macrophage stimulation.

  • 8.
    Lodefalk, Maria
    et al.
    Örebro University, School of Medical Sciences. Örebro University Hospital. Department of Paediatrics, Örebro University Hospital, Örebro, Sweden; University Health Care Research Center, Region Örebro County, Örebro, Sweden.
    Nilsson, Ola
    Örebro University, School of Medical Sciences. Department of Paediatrics, Faculty of Health and Medical Sciences, Örebro University, Örebro, Sweden; Division of Paediatric Endocrinology, Department of Women’s and Children’s Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
    To Prime or Not to Prime - Is That Still a Question?: A Comment on the US Guidelines on Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents2017In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 88, no 2, p. 179-180Article in journal (Refereed)
  • 9.
    Nilsson, Ola
    Örebro University, School of Medical Sciences.
    It Is Not Just the Growth Hormone-IGF-I Axis2018In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, no Suppl.1, p. 12-13Article in journal (Other academic)
    Abstract [en]

    For decades, the dominant conceptual framework for understanding short and tall stature was centered on the GH-IGF-I axis. However, recent findings in basic molecular and cellular biology and in clinical genetics have uncovered a vast array of other regulatory systems that control skeletal growth and an accompanying vast array of genetic defects outside the GH-IGF-I axis that can cause disorders of linear growth. As a result, the traditional view of short or tall stature that is centered on the GH-IGF-I axis is now far too narrow to encompass the ever-growing number of defects that cause abnormal linear growth. A much broader conceptual framework can be based on the simple concept that linear growth disorders are necessarily due to dysfunction of the growth plate, the structure responsible for bone elongation and therefore overall body size. Consequently, short stature can more generally be conceptualized as a primary or secondary disorder of the growth plate chondrocytes. The wide array of genetic defects, many newly-discovered, that affect growth plate chondrocyte function and thereby cause childhood growth disorders will be reviewed. A novel concept that has emerged from recent findings is that sequence variants in a single gene can produce a phenotypic spectrum that ranges from a severe skeletal dysplasia to disproportionate or proportionate short stature, to normal variation in height, to tall stat-ure. The recent advances reviewed in this paper are steadily dimin-ishing the number of children who receive the unhelpful diagnoses of severe idiopathic short stature or tall stature.

  • 10.
    Nilsson, Ola
    Örebro University, School of Medical Sciences.
    PRO - To Prime Or Not to Prime?2018In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, no Suppl.1, p. 18-19Article in journal (Other academic)
    Abstract [en]

    Recent progress in the understanding of growth disorders has further emphasized that growth hormone deficiency is only one of many causes for growth failure and that growth hormone deficiency (GHD) is over-diagnosed in children with short stature. Over-diagnosis of GHD is problematic as it incorrectly labels children with pituitary disease, leads to overtreatment and misin-formation of patients and families, and may sometimes prevent doctors from making the correct diagnosis. Methods that can im-prove the specificity of GH testing are therefore urgently needed. Estrogen priming of prepubertal children is safe and inexpensive. Available data suggest that it increases specificity and therefore improves testing performance. In this presentation, I will discuss estrogen priming and argue that it should be used if the purpose of testing is to accurately determine whether the child is GH deficient.

  • 11.
    Nilsson, Ola
    et al.
    Örebro University, School of Medical Sciences. Karolinska Institutet, Stockholm, Sweden.
    Whyte, Michael P.
    Shriners Hospitals for Children, St Louis, USA.
    Imel, Erik A.
    Indiana University School of Medicine, Indianapolis, USA.
    Munns, Craig
    The Children’s Hospital at Westmead, Sydney, Australia.
    Portale, Anthony A.
    University of California, San Francisco, USA.
    Ward, Leanne
    University of Ottawa, Ontario, Canada.
    Simmons, Jill H.
    Vanderbilt University School of Medicine, Nashville, USA.
    Padidela, Raja
    Royal Manchester Children’s Hospital, Manchester, UK.
    Namba, Noriyuki
    Osaka Hospital, Japan Community, Healthcare Organization, Osaka, Japan; Osaka University Graduate School of Medicine, Osaka, Japan.
    Cheong, Hae Il
    Seoul National University Children’s Hospital, Seoul, South Korea.
    Mao, Meng
    Ultragenyx Pharmaceutical Inc., Novato, USA.
    Skrinar, Alison
    Ultragenyx Pharmaceutical Inc., Novato, USA.
    Chen, Chao-Yin
    Ultragenyx Pharmaceutical Inc., Novato, USA.
    Martin, Javier San
    Ultragenyx Pharmaceutical Inc., Novato, USA.
    Glorieux, Francis
    Shriners Hospital for Children-Canada, McGill University, Montreal, Canada.
    Burosumab Improved Rickets, Phosphate Metabolism, and Clinical Outcomes Compared to Conventional Therapy in Children with X-Linked Hypophosphatemia (XLH) - A Randomized Controlled Phase 3 Study2018In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, no Suppl.1, p. 57-58Article in journal (Other academic)
    Abstract [en]

    In children with XLH, high circulating levels of FGF23 cause hypophosphatemia with consequent rickets, skeletal deformities, and growth impairment. Conventional therapy consists of multiple daily doses of oral phosphate and active vitamin D (Pi/D). Burosumab is a fully human monoclonal antibody against FGF23 indicated for the treatment of XLH.

    In the active-control study CL301 (NCT02915705), 61 children with XLH (1-12 years old) were randomized (1:1) to receive subcutaneous burosumab starting at 0.8 mg/kg every 2 weeks (Q2W) or Pi/D as prescribed by investigators. Eligibility criteria included a Total Rickets Severity Score (RSS) ≥2.0 and prior receipt of Pi/D. The primary endpoint was healing of rickets at Week 40 assessed by radiologists blinded to treatment using the Radiographic Global Impression of Change (RGI-C).

    At Week 40, burosumab significantly improved rickets compared with Pi/D (RGI-C global score least squares [LS] mean ± SE: +1.92 ± 0.11 vs +0.77 ± 0.11; p<0.0001). More subjects in the burosumab group had substantial healing (RGI-C ≥+2.0) at Week 40, compared with the Pi/D group (21/29, 72% vs 2/32, 6%; odds ratio of 39.1, p<0.0001). Additional evidence for improvement of rickets included decreased Total RSS (LS mean ± SE change, burosumab vs Pi/D: -2.04 ± 0.145 vs -0.71 ± 0.138; p<0.0001), decreased alkaline phosphatase (-131 ± 13 vs -35 ± 19; p<0.0001), and improved RGI-C lower limb deformity score (+0.62 ± 0.12 vs +0.21 ± 0.12; p=0.020). At Week 40, increases in serum phosphorous (p<0.0001) and TmP/GFR (p<0.0001) were significantly greater with burosumab compared with Pi/D. Standing height Z-score increased in both treatment groups from baseline to Week 40 with an LS mean change of +0.15 (95% CI: 0.05, 0.25) for burosumab and +0.08 (-0.02, 0.19) for Pi/D. Percent predicted distance walked in six minutes increased with burosumab (Baseline to Week 40: 62% to 72%) and was unchanged with Pi/D (76% to 75%). Pre-defined adverse events (AEs) of interest, including hypersensitivity and injection site reaction, were higher in the burosumab group, but were mild to moderate in severity overall, with no discontinuations. There were 4 serious AEs (3 burosumab, 1 Pi/D); none were treatment-related and all resolved.

    In this randomized Phase 3 clinical trial, burosumab Q2W re-sulted in significantly greater improvements in rickets and phosphate metabolism compared with conventional therapy in 1-12 year-old children with XLH.

  • 12.
    Rodanaki, Maria
    et al.
    Örebro University, School of Medical Sciences. Department of Paediatrics.
    Lodefalk, Maria
    Örebro University, School of Medical Sciences. Örebro University Hospital. Department of Paediatrics, School of Medical Sciences, Örebro University, Örebro, Sweden; University Health Care Research Center, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
    Forssell, Katharina
    Department of Paediatrics, Central Hospital, Karlstad, Sweden.
    Arvidsson, Carl-Göran
    Department of Paediatrics, Västerås Hospital, Västerås, Sweden.
    Forssberg, Maria
    Department of Paediatrics, Central Hospital, Karlstad, Sweden.
    Åman, Jan
    Department of Paediatrics, School of Medical Sciences, Örebro University, Örebro, Sweden.
    The Incidence of Childhood Thyrotoxicosis Is Increasing in Both Girls and Boys in Sweden2019In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 91, no 3, p. 195-202Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: We found an increase in the incidence rate (IR) of childhood thyrotoxicosis (CT) during the 1990s in central Sweden. The optimal treatment method for CT is a subject that is still debated upon.

    OBJECTIVES: To investigate whether the increase in IR of CT in Sweden persists and to study the treatment outcome.

    METHOD: Children <16 years of age diagnosed with CT during 2000-2009 and living in 1 of 5 counties in central Sweden were identified retrospectively using hospital registers. Data on clinical and biochemical characteristics and outcomes of treatment were collected from medical records. The corresponding data from 1990 to 1999 were pooled with the new data.

    RESULTS: In total, 113 children were diagnosed with CT during 1990-2009 in the study area. The overall IR was 2.2/100,000 person-years (95% CI 1.2-2.5/100,000 person-years). The IR was significantly higher during 2000-2009 than during 1990-1999 (2.8/100,000 [2.2-3.6] vs. 1.6/100,000 person-years [1.2-2.2], p = 0.006). The increase was significant for both sexes. Seventy percent of the patients who completed the planned initial treatment with antithyroid drugs (ATDs) and were not lost to follow-up relapsed within 3 years. Boys tended to relapse earlier than girls (6.0 months after drug withdrawal [95% CI 1.9-10.0] vs. 12.0 months [95% CI 6.8-17.3], p = 0.074).

    CONCLUSIONS: The IR of CT is increasing in both girls and boys. Relapse rate after withdrawal of ATD treatment is 70%. Boys tend to relapse earlier than girls, and this needs to be further investigated.

  • 13.
    Rodanaki, Maria
    et al.
    Örebro University, School of Medical Sciences. Department of Pediatrics.
    Lodefalk, Maria
    Örebro University, School of Medical Sciences. Örebro University Hospital. Department of Pediatrics, Örebro University, Örebro, Sweden; Faculty of Medicine and Health, University Health Care Research Center, Örebro University, Örebro, Sweden.
    Åman, Jan
    Department of Pediatrics, Örebro University, Örebro, Sweden.
    Incidence and Treatment Outcome of Childhood Thyrotoxicosis2018In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, no Suppl.1, p. 90-91, article id RFC5.3Article in journal (Refereed)
    Abstract [en]

    Aim: To study the incidence of childhood thyrotoxicosis in five counties in central Sweden during 1990–2009 and to study the treatment outcome.

    Methods: Children below the age of 16 years diagnosed with thyrotoxicosis during the 20-years period and living in the study area were identified retrospectively. Data on the total number of children below 16 years of age living in the area during the study period was collected from the National Board of Statistics, Sweden. Data regarding clinical and biochemical characteristics and the outcome of the treatment were collected from medical records.

    Results: 113 patients were identified. The annual incidence was 2.2/100,000 children during the whole study period. The incidence was higher during the last ten studied years as compared to the first ten studied years (2.8 vs. 1.6/100,000, p = 0.006). The increase in incidence was seen in both girls and boys (p = 0.041 and p = 0.038, respectively). Treatment with antithyroid drugs (ATD) was the first hand choice, but 69% of the patients relapsed within three years after the planned discontinuation of the ATD treatment. Boys relapsed more often than girls (p = 0.013), but we could not identify any other significant predictor for relapse.

    Conclusion: Thyrotoxicosis is uncommon in pediatric patients but the incidence seems to be increasing. The outcome of the initial treatment with ATD is poor with high relapse rates. Boys seems to have an increased risk for relapse compared to girls. More studies are needed to identify an optimal treatment protocol for each individual.

  • 14.
    Rodanaki, Maria
    et al.
    Örebro University, School of Medical Sciences. Department of Pediatrics, Örebro University Hospital, Örebro,.
    Rask, Eva
    Örebro University, School of Medical Sciences. Department of Endocrinology, Örebro University, Örebro, Sweden.
    Lodefalk, Maria
    Örebro University, School of Medical Sciences. Örebro University Hospital. Department of Pediatrics.
    Incidence of Delayed Puberty in Adolescents: A Population-Based Study in a County in Central Sweden2018In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, no Suppl.1, p. 510-510, article id P2-P311Article in journal (Refereed)
    Abstract [en]

    Introduction: Delayed puberty is defined as the absence of physical signs of puberty by the age of 14 years in boys and 13 years in girls. According to this definition, the prevalence of delayed puberty would be 2%, if the ages of pubertal onset were normally distributed in the population. However, the prevalence or incidence of delayed puberty has not been described before, as far as we know. Our aim was to study the incidence of delayed puberty in central Sweden.

    Methods: In this population-based retrospective study all adolescents given the ICD-10 diagnosis “delayed puberty” in Örebro county during the period 2013-2015 were identified. Adolescents with other diagnoses potentially related to delayed puberty (e.g. short stature) were also identified to ensure that there were no additional cases. The medical records of these patients, except those not willing to participate, were systematically reviewed to ensure that the diagnosis was correct. The cases were then categorized into four groups depending on how accurate we found the diagnosis (certain, possible, wrong diagnosis, or unclear cases). Data on the total numbers of adolescents in Örebro county were obtained from the authority of statistics in Sweden.

    Results: One hundred and twenty-eight of 180 eligible medical records were reviewed (response rate: 71 %). Nine boys and one girl were diagnosed with delayed puberty during the study time period and fulfilled our strict criteria for a certain diagnosis and 4 boys were classified as possible new cases. The total population in Örebro county for boys aged 14-18 years was on average 6,546 each year during the time period. The minimal annual incidence for boys was 46 per 100,000 (95% confidence interval (CI) 15-142 per 100,000). When possible cases were included, the annual incidence for boys increased to 66 (CI 26-170) per 100,000. Due to the low number of girls with delayed puberty no incidence for girls was calculated.

    Discussion: This is, to our knowledge, the first study describing the incidence of delayed puberty in boys. We evaluated the accuracy of the diagnosis using strict criteria. The presented incidence should be regarded as the minimum incidence since some adolescents with delayed puberty may not seek medical advice or may be unrecognized by the health services in schools. Because of our small study population, larger studies are needed to confirm our findings and for calculation of the incidence in girls, where our data implies a much lower incidence.

  • 15.
    Östling, Hanna
    et al.
    Örebro University, School of Medical Sciences.
    Kruse, Robert
    Örebro University, School of Medical Sciences.
    Helenius, Gisela
    Örebro University, School of Medical Sciences. Örebro University Hospital.
    Lodefalk, Maria
    Örebro University, School of Medical Sciences. Örebro University Hospital.
    Infants born small-for-gestational age have different placental expression of microRNAs2017In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 88, no Suppl. 1, p. 100-101, article id P1-508Article in journal (Other academic)
1 - 15 of 15
CiteExportLink to result list
Permanent link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf