uu.seUppsala universitets publikationer
Ändra sökning
Avgränsa sökresultatet
1 - 16 av 16
RefereraExporteraLänk till träfflistan
Permanent länk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Träffar per sida
  • 5
  • 10
  • 20
  • 50
  • 100
  • 250
Sortering
  • Standard (Relevans)
  • Författare A-Ö
  • Författare Ö-A
  • Titel A-Ö
  • Titel Ö-A
  • Publikationstyp A-Ö
  • Publikationstyp Ö-A
  • Äldst först
  • Nyast först
  • Skapad (Äldst först)
  • Skapad (Nyast först)
  • Senast uppdaterad (Äldst först)
  • Senast uppdaterad (Nyast först)
  • Disputationsdatum (tidigaste först)
  • Disputationsdatum (senaste först)
  • Standard (Relevans)
  • Författare A-Ö
  • Författare Ö-A
  • Titel A-Ö
  • Titel Ö-A
  • Publikationstyp A-Ö
  • Publikationstyp Ö-A
  • Äldst först
  • Nyast först
  • Skapad (Äldst först)
  • Skapad (Nyast först)
  • Senast uppdaterad (Äldst först)
  • Senast uppdaterad (Nyast först)
  • Disputationsdatum (tidigaste först)
  • Disputationsdatum (senaste först)
Markera
Maxantalet träffar du kan exportera från sökgränssnittet är 250. Vid större uttag använd dig av utsökningar.
  • 1.
    Albertsson-Wikland, Kerstin
    et al.
    Göteborg Pediatric Growth Research Center, Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.
    Kriström, Berit
    Pediatrics Unit, Department of Clinical Sciences, Umeå University, Sweden.
    Lundberg, Elena
    Pediatrics Unit, Department of Clinical Sciences, Umeå University, Sweden.
    Aronson, A Stefan
    Department of Pediatrics, Halmstad Hospital, Sweden.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Hagenäs, Lars
    Department of Women’s and Children’s Health, Karolinska Institute, Stockholm, Sweden.
    Ivarsson, Sten-A
    Department of Pediatrics, Lund University, Malmö, Sweden.
    Jonsson, Björn
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Ritzén, Martin
    Department of Women’s and Children’s Health, Karolinska Institute, Stockholm, Sweden.
    Tuvemo, Torsten
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Westgren, Ulf
    Department of Pediatrics, Lund University, Malmö, Sweden.
    Westphal, Otto
    Göteborg Pediatric Growth Research Center, Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sweden.
    Aman, Jan
    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 secretion2014Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 82, nr 3, s. 158-170Artikel i tidskrift (Refereegranskat)
    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 µg/kg/day for ≥1 year. They were randomized to receive 67 µg/kg/day (GH(67)) given as one (GH(67×1); n = 35) or two daily injections (GH(33×2); n = 36), or to remain on a single 33 µg/kg/day dose (GH(33×1); n = 40). Growth was assessed as heightSDSgain for prepubertal, pubertal and total periods, as well as AHSDS versus the population and the midparental height.

    RESULTS: Pubertal heightSDSgain was greater for patients receiving a high dose (GH(67), 0.73) than a low dose (GH(33×1), 0.41, p < 0.05). AHSDS was greater on GH(67) (GH(67×1), -0.84; GH(33×2), -0.83) than GH(33) (-1.25, p < 0.05), and heightSDSgain was greater on GH(67) than GH(33) (2.04 and 1.56, respectively; p < 0.01). All groups reached their target heightSDS.

    CONCLUSION: Pubertal heightSDSgain and AHSDS 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.

  • 2.
    Albertsson-Wikland, Kerstin
    et al.
    Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Physiol Endocrinol, Gothenburg, Sweden..
    Mårtensson, Anton
    Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Physiol Endocrinol, Gothenburg, Sweden.;Stat Konsultgrp, Gothenburg, Sweden..
    Sävendahl, Lars
    Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden.;Karolinska Univ Hosp, Pediat Endocrinol Unit, Stockholm, Sweden..
    Niklasson, Aimon
    Univ Gothenburg, Inst Clin Sci, Sahlgrenska Acad, GP GRC,Dept Pediat, Gothenburg, Sweden..
    Bang, Peter
    Linkoping Univ, Div Pediat, Dept Clin & Expt Med, Linkoping, Sweden..
    Dahlgren, Jovanna
    Univ Gothenburg, Inst Clin Sci, Sahlgrenska Acad, GP GRC,Dept Pediat, Gothenburg, Sweden..
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Kriström, Berit
    Umea Univ, Pediat, Dept Clin Sci, Umea, Sweden..
    Norgren, Svante
    Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden.;Karolinska Univ Hosp, Pediat Endocrinol Unit, Stockholm, Sweden..
    Pehrsson, Nils-Gunnar
    Stat Konsultgrp, Gothenburg, Sweden..
    Odén, Anders
    Stat Konsultgrp, Gothenburg, Sweden.;Chalmers, Dept Math Sci, Gothenburg, Sweden..
    Birth Characteristics Explain One Third of Expected Deaths in rhGH-treated Patients Diagnosed with IGHD, ISS & SGA2016Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 86, nr Suppl. 1, s. 49-49, artikel-id Abstr. FC8.6Artikel i tidskrift (Refereegranskat)
  • 3. Benyi, Emelie
    et al.
    Kieler, Helle
    Linder, Marie
    Ritzen, Martin
    Carlstedt-Duke, Jan
    Tuvemo, Torsten
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Westphal, Otto
    Savendahl, Lars
    Risks of Malignant and Non-Malignant Tumours in Tall Women Treated with High-Dose Oestrogen during Adolescence2014Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 82, nr 2, s. 89-96Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background/Aim: High-dose oestrogen treatment has been used to reduce growth in tall adolescent girls. The long-term safety with regard to cancer has not been clarified. Our aim was to study if this growth reduction therapy affects cancer risk later in life. Methods: A cohort study of 369 (172 treated, 197 untreated) Swedish women who in 1973-1993 were assessed for tall adolescent stature was designed. Data were collected from university hospital records, patient questionnaires, and the Swedish Cancer Register. Results: Risks are presented as odds ratios (ORs) with 95% confidence intervals comparing treated to untreated subjects. In treated subjects, the overall OR for having a tumour (malignant or nonmalignant) was 1.7 (0.8-3.8). The ORs were 2.3 (0.4-12.8) for breast tumours, 0.8 (0.2-2.6) for gynaecological tumours, and 6.1 (1.04-infinity) for melanoma. When limiting to malignant tumours, the crude ORs were of similar magnitude. Conclusion: The OR for any melanoma was higher in treated than in untreated women, suggesting an increased risk of melanoma associated with high-dose oestrogen treatment during adolescence. Although the risk estimates were increased for overall tumours, breast tumours, malignant gynaecological tumours, and malignant melanoma, these associations were not statistically significant. Our results need to be verified in a larger cohort. (C) 2014 S. Karger AG, Basel

  • 4.
    Butler, Eadaoin M.
    et al.
    Better Start Natl Sci Challenge, Auckland, New Zealand;Univ Auckland, Liggins Inst, Private Bag 92019,Victoria St West, Auckland 1142, New Zealand.
    Derraik, Jose G. B.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa. Better Start Natl Sci Challenge, Auckland, New Zealand;Univ Auckland, Liggins Inst, Private Bag 92019,Victoria St West, Auckland 1142, New Zealand.
    Taylor, Rachael W.
    Better Start Natl Sci Challenge, Auckland, New Zealand;Univ Otago, Dept Med, Dunedin, New Zealand.
    Cutfield, Wayne S.
    Better Start Natl Sci Challenge, Auckland, New Zealand;Univ Auckland, Liggins Inst, Private Bag 92019,Victoria St West, Auckland 1142, New Zealand.
    Prediction Models for Early Childhood Obesity: Applicability and Existing Issues2018Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, nr 6, s. 358-367Artikel, forskningsöversikt (Refereegranskat)
    Abstract [en]

    Statistical models have been developed for the prediction or diagnosis of a wide range of outcomes. However, to our knowledge, only 7 published studies have reported models to specifically predict overweight and/or obesity in early childhood. These models were developed using known risk factors and vary greatly in terms of their discrimination and predictive capacities. There are currently no established guidelines on what constitutes an acceptable level of risk (i.e., risk threshold) for childhood obesity prediction models, but these should be set following consideration of the consequences of false-positive and false-negative predictions, as well as any relevant clinical guidelines. To date, no studies have examined the impact of using early childhood obesity prediction models as intervention tools. While these are potentially valuable to inform targeted interventions, the heterogeneity of the existing models and the lack of consensus on adequate thresholds limit their usefulness in practice. 

  • 5.
    Chaplin, John Eric
    et al.
    Univ Gothenburg, Gothenborg Pediat Growth Res Ctr, Dept Pediat, Inst Clin Sci,Sahlgrenska Acad, SE-41685 Gothenburg, Sweden..
    Kristrom, Berit
    Umea Univ, Inst Clin Sci Pediat, Umea, Sweden..
    Jonsson, Björn
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Tuvemo, Torsten
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Albertsson-Wikland, Kerstin
    Univ Gothenburg, Inst Neurosci & Physiol, Dept Physiology Endocrinol, Sahlgrenska Acad, SE-41685 Gothenburg, Sweden..
    Growth Hormone Treatment Improves Cognitive Function in Short Children with Growth Hormone Deficiency2015Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 83, nr 6, s. 390-399Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background/Aims: We investigated the association between cognition and growth hormone (GH) status and GH treatment in short prepubertal children with broadly ranging GH secretion. Methods: A total of 99 children (age 3-11 years), 41 with GH deficiency (GHD) and 58 with idiopathic short stature (ISS), were randomized to a fixed dose (43 mu g/kg/day) or a prediction model-guided individualized dose (17-100 mu g/kg/day) and followed up for 24 months. In a longitudinal and mixed within-and between-subjects study, we examined clinical effect size changes, measured by Cohen's d, in full-scale IQ (FSIQ) and secondary IQ indices. Results: Significant increases giving medium effect size in FSIQ (p = 0.001, Cohen's d = 0.63), performance IQ (p = 0.001, Cohen's d = 0.65) and processing speed (p = 0.005, Cohen's d = 0.71) were found in the GH-deficient group. In contrast, perceptual organization only increased in the ISS group (p = 0.001, Cohen's d = 0.53). Baseline IQ was normally distributed with small but significant differences between the groups: GH-deficient children had lower FSIQ (p = 0.042) and lower performance IQ (p = 0.021). Using multiple regression analysis, 40% of the variance in delta processing speed scores (0-24 months) was explained by GH(max) and IGF-I-SDS at baseline. Conclusion: IQ, specifically fluid intelligence, increased in the GH-deficient children. The pretreatment status of the GH/IGF-I axis was significantly predictive for these changes. 

  • 6.
    Derraik, Jose G. B.
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa. Univ Auckland, Liggins Inst, Auckland, New Zealand;Univ Auckland, A Better Start Natl Sci Challenge, Auckland, New Zealand.
    Chiavaroli, Valentina
    Univ Auckland, Liggins Inst, Auckland, New Zealand.
    Hopkins, Sarah A.
    Univ Auckland, Liggins Inst, Auckland, New Zealand.
    Biggs, Janene B.
    Univ Auckland, Liggins Inst, Auckland, New Zealand.
    Rodrigues, Raquel O.
    Univ Auckland, Liggins Inst, Auckland, New Zealand.
    Seneviratne, Sumudu N.
    Univ Auckland, Liggins Inst, Auckland, New Zealand;Univ Colombo, Dept Paediat, Fac Med, Colombo, Sri Lanka.
    McCowan, Lesley M. E.
    Univ Auckland, Dept Obstet & Gynaecol, Fac Med & Hlth Sci, Auckland, New Zealand.
    Cutfield, Wayne S.
    Univ Auckland, Liggins Inst, Auckland, New Zealand;Univ Auckland, A Better Start Natl Sci Challenge, Auckland, New Zealand.
    Hofman, Paul L.
    Univ Auckland, Liggins Inst, Auckland, New Zealand.
    Greater Maternal BMI Early in Pregnancy and Excessive Gestational Weight Gain Are Independently Associated with Adverse Health Outcomes in the Offspring at Age 7 Years2018Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, s. 296-296Artikel i tidskrift (Övrigt vetenskapligt)
  • 7.
    Gkourogianni, Alexandra
    et al.
    Karolinska Inst, Stockholm, Sweden;Univ Hosp, Stockholm, Sweden.
    Segerlund, Emma
    Sunderby Hosp, Sunderbyn, Sweden.
    Hallgrimsdottir, Sigrun
    Karolinska Inst, Stockholm, Sweden;Univ Hosp, Stockholm, Sweden.
    Nilsson, Ola
    Karolinska Inst, Stockholm, Sweden;Univ Hosp, Stockholm, Sweden;Orebro Univ, Orebro, Sweden;Univ Hosp, Orebro, Sweden.
    Stattin, Evalena
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant2018Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, s. 424-424Artikel i tidskrift (Övrigt vetenskapligt)
  • 8.
    Holmlund-Suila, Elisa
    et al.
    Univ Helsinki, Childrens Hosp, Helsinki, Finland.;Helsinki Univ Hosp, Helsinki, Finland..
    Viljakainen, Heli
    Univ Helsinki, Childrens Hosp, Helsinki, Finland.;Helsinki Univ Hosp, Helsinki, Finland.;Folkhalsan Res Ctr, Helsinki, Finland..
    Ljunggren, Östen
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Endokrinologi och mineralmetabolism.
    Hytinantti, Timo
    Helsinki Matern Hosp, Helsinki, Finland..
    Andersson, Sture
    Univ Helsinki, Childrens Hosp, Helsinki, Finland.;Helsinki Univ Hosp, Helsinki, Finland..
    Makitie, Outi
    Univ Helsinki, Childrens Hosp, Helsinki, Finland.;Helsinki Univ Hosp, Helsinki, Finland.;Folkhalsan Res Ctr, Helsinki, Finland.;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Inst, Ctr Mol Med, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden..
    Fibroblast Growth Factor 23 Concentrations Reflect Sex Differences in Mineral Metabolism and Growth in Early Infancy2016Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 85, nr 4, s. 232-241Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: The role of fibroblast growth factor 23 (FGF23) in the regulation of mineral homeostasis in early life is inadequately understood. We aimed to explore the effects of vitamin D supplementation on serum FGF23 and to elucidate longitudinal changes in FGF23, in addition to studying its association with mineral metabolism in early infancy. Methods: Altogether 113 healthy infants received vitamin D 3 10, 30 or 40 mu g/day from age 0.5 to 3.0 months. Cord blood at birth and capillary blood samples at 3 months were analyzed for serum 25-hydroxyvitamin D, parathyroid hormone, phosphate, calcium and intact and C-terminal FGF23. Results: In repeated-measures ANCOVA, intact FGF23 concentration increased with time (p < 0.001) and C-terminal FGF23 decreased (p < 0.001). At 3 months, girls had a higher concentration of intact FGF23 (51 vs. 26 pg/ml, p < 0.001) and a greater increase over time (Delta FGF23 intact 45 vs. 16 pg/ml, p = 0.001) than boys. Vitamin D did not affect serum intact or C-terminal FGF23 concentrations. Girls showed a positive correlation between phosphate and intact FGF23 (p = 0.004), whereas in boys phosphate and C-terminal FGF23 correlated inversely (p = 0.006). Conclusions: A substantial sex-related difference in intact FGF23 concentration exists during early infancy, possibly related to differences in skeletal growth between boys and girls. (C) 2016 S. Karger AG, Basel

  • 9.
    Kjellberg, Emma
    et al.
    Sahlgrens Acad, Clin Sci, Gothenburg, Sweden.
    Roswall, Josefine
    Halland Hosp Halmstad, Pediat, Halmstad, Sweden.
    Andersson, Jonathan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kirurgiska vetenskaper, Radiologi.
    Bergman, Stefan
    Sahlgrens Acad, Inst Med, Gothenburg, Sweden.
    Kullberg, Joel
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kirurgiska vetenskaper, Radiologi.
    Dahlgren, Jovanna
    Sahlgrens Acad, Clin Sci, Gothenburg, Sweden.
    IGF-I at Four Months Associates to Visceral and Subcutaneous Adipose Tissue at 7 Years of Age2018Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, s. 93-93Artikel i tidskrift (Övrigt vetenskapligt)
  • 10.
    Lindström, Linda
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Wikström, Anna-Karin
    Karolinska Institutet, Stockholm, Sweden.
    Bergman, Eva
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Lundgren, Maria
    Karolinska Institutet, Stockholm, Sweden.
    Born Small for Gestational Age and Poor School Performance: How Small Is Too Small?2017Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 88, s. 215-223Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Aim: To assess the relationship between severity of small for gestational age (SGA) and risk of poor school performance, and to investigate whether adult stature modifies this risk.

    Methods: 1,088,980 term Swedish children born 1973-1988 were categorized into severe SGA (<-3 standard deviations (SD) of expected birth weight), moderate SGA (-2.01 to -3 SD), mild SGA (-1.01 to -2 SD) and appropriate for gestational age (-1 to 0.99 SD). Risk of poor school performance at time of graduating from compulsory school (grades <10th percentile) was calculated using unconditional logistic regression models and adjusted for socioeconomic factors. In a sub-analysis, we stratified boys by adult stature, and adjusted for maternal but not paternal height.

    Results: All SGA groups were significantly associated with increased risk of poor school performance, with adjusted odds ratios (aOR) and 95% confidence intervals (CI) ranging from 1.85 (1.65-2.07) for severe SGA to 1.25 (1.22-1.28) for mild SGA. In the sub-analysis, all birth weight groups were associated with increased risk of poor school performance among boys with short staturecompared with non-short stature.

    Conclusion: Mild SGA is associated with significantly increased risk of poor school performance, and the risk increases with severity of SGA. Further, this risk diminishes after adequate catch-up growth.

  • 11.
    Lodefalk, Maria
    et al.
    Univ Orebro, Dept Paediat, Fac Med & Hlth, SE-70182 Orebro, Sweden.;Univ Orebro, Univ Hlth Care Res Ctr, SE-70182 Orebro, Sweden..
    Frykholm, Carina
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi.
    Esbjorner, Elisabeth
    Univ Orebro, Dept Paediat, Fac Med & Hlth, SE-70182 Orebro, Sweden..
    Ljunggren, Östen
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Endokrinologi och mineralmetabolism.
    Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication2016Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 85, nr 3, s. 213-218Artikel i tidskrift (Refereegranskat)
    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 1 alpha-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.

  • 12.
    Proos, Lemm A.
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Arnell, Kai
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kirurgiska vetenskaper.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Dahl, Margareta
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Early/Precocious Puberty in Children with Pre/Perinatal Hydrocephalus2017Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 88, s. 180-181Artikel i tidskrift (Övrigt vetenskapligt)
  • 13.
    Ridefelt, Peter
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Biokemisk struktur och funktion.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Aldrimer, Mattias
    Hellberg, Dan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning Dalarna. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Alkaline phosphatase in healthy children: reference intervals and prevalence of elevated levels.2014Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 82, nr 6, s. 399-404Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    BACKGROUND: Transient hyperphosphatasemia (TH) is an often unnoticed benign entity, primarily affecting children below 5 years of age. However, the prevalence among healthy children is unknown. We used data from a Swedish pediatric reference interval project to estimate the prevalence of high alkaline phosphatase (ALP) among healthy children and to calculate pediatric reference intervals.

    METHODS: Blood was collected from 699 subjectively healthy children aged 6 months to 18 years. After exclusion of subjects with high ALP, age- and gender-specific reference intervals were calculated.

    RESULTS: Six children had ALP levels >16.7 µkat/l (>1,000 U/l), including 4 females and 2 males aged 7-22 months. The prevalence in the age group from 6 months to 2 years was 6.2% (6/97). None of the older children had levels of ALP >16.7 µkat/l. The study did not include the follow-up of these apparently healthy children. Consequently, conditions others than TH explaining the elevated ALP could not be excluded. However, general chemistry analyses, such as liver enzymes, calcium, intact PTH and vitamin D, were essentially normal in these children.

    CONCLUSIONS: The prevalence of high ALP among subjectively healthy children was approximately 2.4% below 5 years of age and 6.2% below 2 years. Reference intervals vary with age and gender.  

  • 14.
    Serapio, Solveig
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Ahlsson, Fredrik
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Larsson, Anders
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Klinisk kemi.
    Kunovac Kallak, Theodora
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Second Trimester Maternal Leptin Levels Are Associated with Body Mass Index and Gestational Weight Gain but not Birth Weight of the Infant.2019Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, s. 1-9Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    INTRODUCTION: Obesity is increasing among the pregnant population. Leptin has an important role in the regulation of energy balance and hunger. The aim of this study was to investigate the association between maternal leptin levels with maternal obesity, gestational weight gain (GWG), single nucleotide polymorphisms (SNPs) within the leptin gene, and the age-adjusted birth weight of the child.

    MATERIAL AND METHODS: Maternal leptin levels (n = 740) and SNPs (n = 504) were analyzed in blood samples taken within the Uppsala Biobank of Pregnant women at pregnancy weeks 16-19.

    RESULTS: Maternal leptin levels differed significantly between body mass index (BMI) groups. Normal weight women had the lowest median leptin levels and levels increased with each BMI group. Leptin SNP genotype was not associated with leptin levels or BMI. There was also no association between maternal leptin levels and age-adjusted birth weight of the child except for a negative association between leptin levels and birth weight in the morbid obese group.

    DISCUSSION/CONCLUSION: Maternal BMI was identified as the best positive explanatory factor for maternal leptin levels. Leptin was a strong positive explanatory factor for GWG. Birth weight of children of uncomplicated pregnancies was, however, dependent on maternal height, BMI, GWG, and parity but not leptin levels, except for in morbid obese women where a negative association between maternal leptin levels and birth weight was found. We speculate that this indicates altered placental function, not manifested in pregnancy complication. We conclude that maternal leptin levels do not affect the birth weight of the child more than BMI, GWG, and parity.

  • 15.
    Tidblad, Anders
    et al.
    Karolinska Inst, Stockholm, Sweden..
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnendokrinologisk forskning.
    Marcus, Claude
    Karolinska Inst, Stockholm, Sweden..
    Ritzen, Martin
    Karolinska Inst, Stockholm, Sweden..
    Ekstrom, Klas
    Karolinska Inst, Stockholm, Sweden..
    Comparison of Lipid And Glucose Metabolism Between Short Prepubertal Children And Healthy Children of Normal Height2017Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 88, s. 303-304Artikel i tidskrift (Övrigt vetenskapligt)
  • 16.
    Yuan, Jinna
    et al.
    Zhejiang Univ, Childrens Hosp, Endocrinol Dept, Sch Med, Hangzhou, Zhejiang, Peoples R China.
    Derraik, Jose G. B.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa. Univ Auckland, Liggins Inst, Auckland, New Zealand;Univ Auckland, Natl Sci Challenge, Auckland, New Zealand.
    Fu, Junfen
    Zhejiang Univ, Childrens Hosp, Endocrinol Dept, Sch Med, Hangzhou, Zhejiang, Peoples R China.
    Dong, Guanping
    Zhejiang Univ, Childrens Hosp, Endocrinol Dept, Sch Med, Hangzhou, Zhejiang, Peoples R China.
    Cutfield, Wayne S.
    Univ Auckland, Liggins Inst, Auckland, New Zealand;Univ Auckland, Natl Sci Challenge, Auckland, New Zealand.
    Wu, Wei
    Zhejiang Univ, Childrens Hosp, Endocrinol Dept, Sch Med, Hangzhou, Zhejiang, Peoples R China.
    Huang, Ke
    Zhejiang Univ, Childrens Hosp, Endocrinol Dept, Sch Med, Hangzhou, Zhejiang, Peoples R China.
    Jiang, Youjun
    Zhejiang Univ, Childrens Hosp, Endocrinol Dept, Sch Med, Hangzhou, Zhejiang, Peoples R China.
    Chen, Xiaochun
    Zhejiang Univ, Childrens Hosp, Endocrinol Dept, Sch Med, Hangzhou, Zhejiang, Peoples R China.
    Beta-Cell Function in Chinese Youngsters with Type 1 Diabetes and Assessment of Surrogate Markers of Severe Insulin Deficiency2018Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, s. 644-644Artikel i tidskrift (Övrigt vetenskapligt)
1 - 16 av 16
RefereraExporteraLänk till träfflistan
Permanent länk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf