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Sökning: hsv:(MEDICAL AND HEALTH SCIENCES) hsv:(Clinical Medicine) hsv:(Pediatrics)

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1.
  • Björkman, Kristoffer, et al. (författare)
  • Clinical course of patients with single large-scale mtDNA deletions and childhood onset anemia
  • 2022
  • Ingår i: 14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9).
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
    • Objective: To add to our knowledge of the clinical spectrum of patients with single large-scale mitochondrial DNA (mtDNA) deletion and childhood onset anemia. Methods: Retrospective collection of clinical data from medical records for patients, both living and deceased, with a single large-scale mtDNA deletion from seven mitochondrial disease centers in five countries. Statistical analysis with descriptive methods and Kaplan-Meier survival analysis. Results: Seventeen patients matching the genetic criterium and with anemia onset before six years of age. Exocrine pancreatic insufficiency was only seen in five patients in this group. Multiple organs were involved in all patients, with the most common non-hematologic ones being skeletal muscle, central nervous system, endocrine, eyes, gastrointestinal system, kidneys, hearing, liver and heart. Psychomotor retardation was seen in ten patients, hearing impairment in nine patients, failure to thrive in eight patients. Eight later developed Kearns-Sayre syndrome. Eleven patients were deceased, with a median age at death of 7.5 years. Conclusions: The classically described phenotype of patients with large-scale mtDNA deletions and early onset anemia is Pearson marrow-pancreas syndrome, characterized by sideroblastic anemia and exocrine pancreas dysfunction. Only a minority of our patients fulfill the original criteria of Pearson syndrome though. Involvement of other organs than the pancreas is more common. The clinical course vary, but multi-system impact is the rule and life-expectancy is low. Early onset anemia in patients with large-scale mtDNA deletions is most frequently not associated with exocrine pancreas dysfunction. Better knowledge of the phenotype is helpful for diagnosis and more accurate prognosis.
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2.
  • Sundell, Anna Lena, 1970- (författare)
  • Children with orofacial clefts : dental caries and health-related quality of life
  • 2016
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Background. The current understanding on caries and enamel developmental defects prevalence and frequency, caries risk, health-related quality life (HRQoL) and stress response in young children with cleft lip and/or palate (CL/P) are sparse. In this thesis these aspects were investigated in 5- and 10- year-old children with CL/P in comparison to non-cleft children in the same ages.Design. The studies in this thesis have a cross-sectional case-control design. Participants. The study group consisted of 139 children with CL/P (80 children aged 5 years and 59 aged 10 years) and 313 non-cleft controls (144 children aged 5 years and 169 aged 10 years).Method. Caries was scored according to International Caries Detection and Assessment System (ICDAS II) and developmental enamel defects were measured as presence and frequency of hypoplasia and hypomineralization. Oral hygiene was assessed using Quigley-Hein plaque index. Stimulated saliva samples were analyzed for mutans streptococci, lactobacilli, buffering capacity and secretion rates. Information regarding children’s oral hygiene routines, dietary habits and fluoride exposure were collected with questionnaires. Caries risk was evaluated with algorithm-based software, Cariogram while HRQoL was perceived with KIDSCREEN-52. Stress response was analyzed with cortisol concentration in saliva at three different time points using a commercial competitive radioimmunoassay.Results. Caries prevalence (36% versus 18%) and caries frequency (1.2 dmfs versus 0.9 dmfs) was significantly higher in 5-year-old children with CL/P in comparison to non-cleft controls. In 10-yearolds no significant difference was found between children with CL/P and non-cleft controls in caries prevalence (47% versus 38%) or in caries frequency (0.7 DMFS versus 0.5 DMFS). Children with CL/P had significantly higher prevalence of enamel defects, higher counts of salivary lactobacilli and less good oral hygiene. The odds of being categorized with high caries risk were elevated in children with CL/P. Children with CL/P had similar HRQoL and salivary cortisol concentrations as non-cleft controls. However, 10-year-old boys with CL/P had significantly higher cortisol concentrations in the evening than non-cleft boys.Conclusions. Preschool children with CL/P seem to have more caries in the primary dentition than non-cleft controls. Children with CL/P had increased odds of being categorized as high caries risk individuals compared to controls. Some of the contributing factors seem to be higher prevalence of enamel defects, impaired oral hygiene and elevated salivary lactobacilli. Furthermore, as measured with the help of cortisol concentrations in saliva, children with CL/P were not more stressed than noncleft controls and their HRQoL was comparable to a European norm population. It appears that regular comprehensive preventive oral care in children with CL/P is effective in preventing caries development in permanent teeth. However, children with CL/P are at risk of caries development and preventive oral care should be implemented and started earlier than today.
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3.
  • Kahn, Robin, et al. (författare)
  • Population-based study of multisystem inflammatory syndrome associated with COVID-19 found that 36% of children had persistent symptoms
  • 2022
  • Ingår i: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253 .- 1651-2227. ; 111:2, s. 354-62
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim: Our aim was to describe the outcomes of multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19. Methods: This national, population-based, longitudinal, multicentre study used Swedish data that were prospectively collected between 1 December 2020 and 31 May 2021. All patients met the World Health Organization criteria for MIS-C. The outcomes 2 and 8weeks after diagnosis are presented, and follow-up protocols are suggested. Results: We identified 152 cases, and 133 (87%) participated. When followed up 2weeks after MIS-C was diagnosed, 43% of the 119 patients had abnormal results, including complete blood cell counts, platelet counts, albumin levels, electrocardiograms and echocardiograms. After 8weeks, 36% of 89 had an abnormal patient history, but clinical findings were uncommon. Echocardiogram results were abnormal in 5% of 67, and the most common complaint was fatigue. Older children and those who received intensive care were more likely to report symptoms and have abnormal cardiac results. Conclusion: More than a third (36%) of the patients had persistent symptoms 8weeks after MIS-C, and 5% had abnormal echocardiograms. Older age and higher levels of initial care appeared to be risk factors. Structured follow-up visits are important after MIS-C.
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4.
  • Böhmer, Jens, 1981, et al. (författare)
  • Absolute Quantification of Donor-Derived Cell-Free DNA in Pediatric and Adult Patients After Heart Transplantation: A Prospective Study.
  • 2023
  • Ingår i: Transplant international : official journal of the European Society for Organ Transplantation. - 0934-0874 .- 1432-2277. ; 36
  • Tidskriftsartikel (refereegranskat)abstract
    • In this prospective study we investigated a cohort after heart transplantation with a novel PCR-based approach with focus on treated rejection. Blood samples were collected coincidentally to biopsies, and both absolute levels of dd-cfDNA and donor fraction were reported using digital PCR. 52 patients (11 children and 41 adults) were enrolled (NCT03477383, clinicaltrials.gov), and 557 plasma samples were analyzed. 13 treated rejection episodes >14days after transplantation were observed in 7 patients. Donor fraction showed a median of 0.08% in the cohort and was significantly elevated during rejection (median 0.19%, p < 0.0001), using a cut-off of 0.1%, the sensitivity/specificity were 92%/56% (AUC ROC-curve: 0.78). Absolute levels of dd-cfDNA showed a median of 8.8 copies/mL and were significantly elevated during rejection (median 23, p = 0.0001). Using a cut-off of 7.5 copies/mL, the sensitivity/specificity were 92%/43% for donor fraction (AUC ROC-curve: 0.75). The results support the feasibility of this approach in analyzing dd-cfDNA after heart transplantation. The obtained values are well aligned with results from other trials. The possibility to quantify absolute levels adds important value to the differentiation between ongoing graft damage and quiescent situations.
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5.
  • Peny-Dahlstrand, Marie, 1953, et al. (författare)
  • Patterns of participation in school-related activities and settings in children with spina bifida
  • 2013
  • Ingår i: Disability and Rehabilitation. - : Informa UK Limited. - 0963-8288 .- 1464-5165. ; 35:21, s. 1821-1827
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: To evaluate how children with spina bifida (SB) participate in school-related activities and to explore if their motor and process skills in task performance were related to their level of active participation in school. Method: Fifty children from a geographical cohort of children with SB (aged 6-14 years) and their teachers rated the children's frequency of participation in school-related activities using a Swedish adaptation of the Availability and Participation Scale. The teachers also rated each child's level of active participation with the School Function Assessment, part one. Each child's motor and process skills were evaluated with the Assessment of Motor and Process Skills. The relation between levels of active participation and motor and process skills was subjected to binary logistic regression analysis. Results: The children participated very frequently in school activities, but their level of active participation was restricted, particularly in the recess/playground setting. There was a highly significant relation between full active participation in most school settings and the children's motor and process skills. Conclusion: Children with SB need support to become more actively involved, particularly in unstructured peer activities. The school staff need to be informed that not only the motor skills but also the process skills have an impact on the children's active participation.
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6.
  • Björkman, Kristoffer, et al. (författare)
  • Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
  • 2014
  • Ingår i: Euromit 2014, 15-19 juni, Tampere, Finland.
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
    • Objectives: To study genotype-phenotype correlations in genes encoding complex I electron input module subunits. Materials and methods: We studied five patients with isolated complex I deficiency, three with NDUFS1 mutations and two with NDUFV1 mutations. A literature review of all reported cases of mutations in the affected genes was performed. Results: The literature review revealed pathological mutations in NDUFS1 for 18 patients in 17 families and correspondingly in NDUFV1 for 26 patients in 19 families. Unpublished clinical data for our five patients were added. Our study showed quite variable clinical courses; death before two years of age was seen in 41% of patients while 18% were alive at seven years. There was a significant difference between the NDUFS1 and NDUFV1 groups for clinical onset and life-span. Mutations in NDUFS1 were linked to a worse clinical course with earlier onset and earlier death. Conclusions: Genotype-phenotype correlations in patients with mutations affecting the genes that encode the electron input module of complex I vary, but patients with NDUFS1 mutation tend to have a worse clinical course than patients with NDUFV1 mutation. Identifying the mutations is of importance for accurate prognostic information and genetic counseling.
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7.
  • Strömland, Kerstin, 1934, et al. (författare)
  • Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.
  • 2007
  • Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:12, s. 1317-1325
  • Tidskriftsartikel (refereegranskat)abstract
    • Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.
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8.
  • Magnéli, Sara, et al. (författare)
  • Telemetric intracranial pressure monitoring : a noninvasive method to follow up children with complex craniosynostoses. A case report
  • 2016
  • Ingår i: Child's nervous system (Print). - : Springer Science and Business Media LLC. - 0256-7040 .- 1433-0350. ; 32:7, s. 1311-1315
  • Tidskriftsartikel (refereegranskat)abstract
    • INTRODUCTION: There are no reliable noninvasive methods of monitoring ICP. Most assessments are made by indirect measures and are difficult to follow over time. Invasive studies can be used but up until now have required in-hospital transcutaneous measurements. Accurate ICP recordings over longer periods of time can be very valuable in timing different surgical procedures in syndromal cases. This case shows that telemetric ICP monitoring can be used for long-term follow-up in patients that may need repeated surgeries related to their craniosynostosis condition.CASE REPORT: In this report, the telemetric ICP probe (Raumedic Neurovent-P-tel) was implanted before surgery and was used for repeated "noninvasive" ICP recordings pre- and postoperatively in a patient with craniosynostosis. The patient was an eight-year-old girl with pansynostosis with only the right lambdoid suture open. A telemetric ICP probe was implanted the day before cranial vault remodeling and the ICP was monitored pre- and postoperatively. The ICP was above 15 mmHg 72.2 % of the monitoring time before surgery, and the amplitude of the curve was greater than normal suggesting impaired compliance. Direct postoperative ICP was normal, and the amplitude was lower. The ICP was then monitored both in out-patient clinic and in four longer hospital stays. Both the values and the curves were analyzed, and the time with ICP above 15 mmHg decreased over time, and the waveform amplitude of the curves improved.CONCLUSION: This "noninvasive" way of recording ICP is a feasible and helpful tool in decision-making and intervening in patients with craniosynostosis.
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9.
  • Socher, Michaela, et al. (författare)
  • Comparing the semantic networks of children with cochlear implants and children with typical hearing: Effects of length of language access
  • 2022
  • Ingår i: Journal of Communication Disorders. - : Elsevier. - 0021-9924 .- 1873-7994. ; 99
  • Tidskriftsartikel (refereegranskat)abstract
    • PurposeKenett et al. (2013) report that the sematic networks, measured by using an oral semantic fluency task, of children with cochlear implants (CI) are less structured compared to the sematic networks of children with typical hearing (TH). This study aims to evaluate if such differences are only evident if children with CI are compared to children with TH matched on chronological age, or also if they are compared to children with TH matched on hearing age.MethodThe performance of a group of children with CI on a verbal fluency task was compared to the performance of a group of chronological-age matched children with TH. Subsequently, computational network analysis was used to compare the semantic network structure of the groups. The same procedure was applied to compare a group of children with CI to a group of hearing-age matched children with TH.ResultsThe children with CI perform on the same level on an oral semantic verbal fluency task as the children with TH matched on hearing age. There are significant differences in terms of the structure of the semantic network between the groups. The magnitude of these differences is very small and they are non-significant for a proportion of nodes included in the bootstrap analysis. This indicates that there is no true difference between the networks. Hearing age, but not age at implantation was found to be significantly positively correlated with semantic verbal fluency performance for the children with CI.ConclusionsThe results from the current study indicate that length of language exposure is an important factor for the structure of the semantic network and the performance on a semantic verbal fluency task for children with CI. Further studies are needed to explore the role of the accessibility of the language input for the development of semantic networks of children with CI.
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10.
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11.
  • Belfrage, Per, et al. (författare)
  • Dispersion of viable pig liver cells with collagenase
  • 1975
  • Ingår i: Life Sciences. - : Elsevier BV. - 1879-0631 .- 0024-3205. ; 17:8, s. 1219-1225
  • Tidskriftsartikel (refereegranskat)abstract
    • Viable suspended hepatocytes were prepared from surgical biopsy specimens of pig and human liver by digestion with collagenase. Initial perfusion of the tissue through cannulated blood vessels with 0.5 mM EGTA followed by 0.2% collagenase gave the best results. 20−870 × 106 cells of which 60–95 % excluded trypan blue were obtained from 5–30 g pig liver pieces, while results with human liver specimens were usually less satisfactory. In some experiments, however, viable cells, as judged by vital stain exclusion and ability to synthesize lipids were obtained in sufficient yield. In the pig hepatocytes glycerolipid synthesis from [3H] glycerol and oxidation and esterification of [14C] oleic acid had the same characteristics as those observed earlier in rat hepatocytes.
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12.
  • Åkerman, Linda, 1983- (författare)
  • Aspects of the Pre-Diabetic Period in Type 1 Diabetes
  • 2016
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Type 1 diabetes (T1D) is an autoimmune disease characterized by insulin deficiency, due to immune-mediated destruction of beta cells. Current knowledge regarding the period preceding disease onset comes, to a large extent, from studying risk cohorts based on relatives of T1D-patients, as they have an increased disease risk. Among T1D patients in general, however, few have the disease in their immediate family. It is therefore important to study risk cohorts from the general population as well. An ongoing autoimmune reaction can often be seen in the blood long before disease onset, by detection of autoantibodies directed towards beta cell antigens. By autoantibody screening among participants in the ABIS (All Babies in the South-east of Sweden) cohort, we could identify a group of children from the general population with increased risk for T1D, positive for multiple autoantibodies. They were enrolled in a 2-year prospective follow-up aiming to characterize the prediabetic period and to identify factors indicative of progression/non-progression to T1D. We assessed glucose homeostasis and autoantibody titers over time, and searched for risk-biomarkers by analyzing the expression of immune-related genes (Th1-Th2-Th3) in peripheral blood mononuclear cells (PBMC) from these children, in comparison to healthy children and newly diagnosed T1D patients. In the same groups we also compared serum micro RNA (miRNA) profiles, knowing that miRNA molecules have desirable biomarker properties. We found that two specific autoantibodies, IA2A and ZnT8A, were detected at higher concentrations in risk-individuals who progressed to overt T1D during or after the follow-up period, compared to those who still have not. We also observed disturbed glucose homeostasis long before onset in the progressors, but it was seen among those who remain symptom free as well. Further, we found support for the possible role of insulin resistance as an accelerator of the disease process. For gene expression and serum miRNA, few differences were observed between risk-individuals and healthy children overall. However, for PBMC gene expression and serum miRNA both, there were associations to beta cell function and glucose homeostasis, and for miRNA also to islet autoantibodies. Although specific profiles for prediction of disease onset or identification of risk-individuals could not be found, these results are interesting and deserve to be evaluated further. As part of another sub-study within ABIS, the effects of physical activity on glucose homeostasis were assessed in healthy schoolchildren. The level of physical activity, measured by pedometers, was related to insulin resistance and beta cell-stress, and decreased physical activity was associated with increased insulin resistance and load on the insulin-producing beta cells, already at school-age.
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14.
  • Andersson, Maria Eva, et al. (författare)
  • Rapid Clearance and Frequent Reinfection With Enteric Pathogens Among Children With Acute Diarrhea in Zanzibar.
  • 2017
  • Ingår i: Clinical Infectious Diseases. - : Oxford University Press (OUP). - 1058-4838 .- 1537-6591. ; 65:8, s. 1371-1377
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Acute infectious gastroenteritis is an important cause of illness and death among children in low-income countries. In addition to rotavirus vaccination, actions to improve nutrition status, sanitation, and water quality are important to reduce enteric infections, which are frequent also among asymptomatic children. The aim of this study was to investigate if the high prevalence of these infections reflects that they often are not cleared properly by the immune response or rather is due to frequent pathogen exposure.Methods: Rectal swabs were collected at time of acute diarrhea and 14 days later from 127 children, aged 2-59 months and living in rural Zanzibar, and were analyzed by real-time polymerase chain reaction targeting multiple pathogens.Results: At baseline, detection rates >20% were found for each of enterotoxigenic Escherichia coli, Shigella, Campylobacter, Cryptosporidium, norovirus GII, and adenovirus. At follow-up, a large proportion of the infections had become cleared (34-100%), or the pathogen load reduced, and this was observed also for agents that were presumably unrelated to diarrhea. Still, the detection frequencies at follow-up were for most agents as high as at baseline, because new infections had been acquired. Neither clearance nor reinfection was associated with moderate malnutrition, which was present in 21% of the children.Conclusions: Children residing in poor socioeconomic conditions, as in Zanzibar, are heavily exposed to enteric pathogens, but capable of rapidly clearing causative and coinfecting pathogens.
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15.
  • Berntorp, Erik, et al. (författare)
  • Centraliserad vård grundläggande i vårdprogram för blödarsjuka
  • 1999
  • Ingår i: Läkartidningen. - 0023-7205. ; 96:15, s. 1849-1852
  • Tidskriftsartikel (refereegranskat)abstract
    • Haemophilia is a rare and potentially life-threatening disease. In Sweden, with a population of approximately 8.5 million, about 350 people suffer from the more severe forms of haemophilia or von Willebrand disease. Meticulous management is important if the patients are to be spared chronic disability and serious treatment complications. The disease is lifelong and affects psychosocial aspects of life among patients and their families. With the help of a grant from the Swedish Board of Halth and Welfare, a care programme has been designed to guarantee Swedish haemophiliacs comparable and optimal care. The programme has been drawn up by representatives of the three haemophilia centres in Sweden (at University Hospital, Malmo, Sahlgrenska University Hospital, Gothenburg, and Karolinska Hospital, Stockholm) in co-operation with the World Federation of National Haemophilia Organisations. To ensure optimal individual application of the programme, individualised management strategies and patient information leaflets have been prepared.
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16.
  • Aydogdu, Özgu, 1978, et al. (författare)
  • Urinary tract infection: Europe.
  • 2011
  • Ingår i: Guide to Pediatric Urology and Surgery in Clinical Practice. - 9781849963664 ; , s. 21-34
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)
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17.
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18.
  • Nakeva von Mentzer, Cecilia, 1968-, et al. (författare)
  • Intensive computer-based phonics training in the educational setting of children with Down syndrome : An explorative study
  • 2021
  • Ingår i: Journal of Intellectual Disabilities. - London : Sage Publications. - 1744-6295 .- 1744-6309. ; 25:4, s. 636-660
  • Tidskriftsartikel (refereegranskat)abstract
    • Children with Down syndrome (DS) using intensive computer-based phonics (GraphoGame, GG) were studied. The children's independence and improvement in phonological processing, letter knowledge, word decoding, and reading strategies were investigated. Seventeen children (5-16 years) with DS participated in a crossover design through 8 weeks (one period), with three test sessions separated by 4 weeks. Children were randomly assigned to GG intervention or regular schooling (RS). All children completed one period and eight children completed two periods. A majority gradually became independent in managing GG. At the group level, very little benefit was found from working with GG. At the individual level, several children with mild to severe intellectual disabilities showed increased decoding of trained words. After one period of GG and RS, an increase in alphabetically decoded words was found. The finding suggests that when individual challenges are considered, computer-based phonics may be beneficial for children with DS in their educational setting.
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19.
  • Berggren, Sara, 1987, et al. (författare)
  • Serum osteocalcin levels at 4months of age were associated with neurodevelopment at 4years of age in term-born children
  • 2022
  • Ingår i: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253 .- 1651-2227. ; 111:2, s. 338-345
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim: The hormone osteocalcin influenced neurodevelopment and cognition in mice models; this human study explored potential associations between total serum levels in human infants and neurodevelopment at 4years of age. Methods: The data were based on two Swedish birth cohorts from 2008 to 2009. We followed 158healthy full-term vaginal births (51% girls) by measuring serum osteocalcin in cord blood and at 4, 12 and 36months. The values were compared with neurodevelopment tests at 4years of age. Results: There was an association between osteocalcin at 4months and later full-scale intelligence quotient (IQ; r2 0.031, p<0.05). Children with osteocalcin levels in the highest quartile scored 5.6 (95% confidence interval [1.3, 9.9]) points higher than those in the lowest quartile, with mean scores of 118.8±8.8 and 113.2±9.2 (p<0.05). They also scored higher on gross motor skills (p<0.05) and showed greater ability during the drawing trail test (p<0.005). Cord levels of osteocalcin were negatively associated with processing speed and fine motor development at 4years, but levels at 12 and 36months were not associated with later neurodevelopment. Conclusion: Osteocalcin levels in infancy appeared to be associated with later IQ and motor development, but more research is needed.
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20.
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21.
  • Lindblad, Ida, et al. (författare)
  • Adolescents with type 1 diabetes mellitus and attention-deficit/hyperactivity disorder require specific support from healthcare professionals
  • 2017
  • Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 106:12, s. 1994-1997
  • Tidskriftsartikel (refereegranskat)abstract
    • AIM: Managing type 1 diabetes mellitus requires efficient cognitive and executive skills, and adolescents who have attention-deficit/hyperactivity disorder (ADHD) may face specific challenges. This study explored young people's experiences of diabetes treatment and care.METHOD: In a population-based study, comprising 175 patients aged 5-16 years with type 1 diabetes mellitus in two Swedish counties, we found that eight also met criteria for ADHD. Six of these, aged 14.5-16 years, participated 2013-2014 in interviews that targeted aspects of their diabetes treatment. Conducted by two psychologists, these used the inductive qualitative, semi-structured interview format.RESULTS: The two boys and four girls all reported difficulties in creating routines for their diabetes treatment and that problems were aggravated during stress. They had been criticised by their parents and the diabetes team when their blood levels indicated inadequate diabetes control. They requested ongoing information, involvement of their friends, group meetings and easy access to the healthcare system during difficult times.CONCLUSION: Patients with type 1 diabetes mellitus and concomitant ADHD faced problems with their diabetes management, especially during stressful situations. Diabetes care provision should pay particular attention to patients with co-existing neuropsychiatric and neurodevelopmental disorders such as ADHD.
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22.
  • Hartvigsson, Olle, 1991, et al. (författare)
  • Differences between Arterial and Venous Umbilical Cord Plasma Metabolome and Association with Parity
  • 2022
  • Ingår i: Metabolites. - : MDPI AG. - 2218-1989 .- 2218-1989. ; 12:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Umbilical cord blood is frequently used in health monitoring of the neonate. Results may be affected by the proportion of arterial and venous cord blood, the venous blood coming from the mother to supply oxygen and nutrients to the infant, and the arterial carrying waste products from the fetus. Here, we sampled arterial and venous umbilical cords separately from 48 newly delivered infants and examined plasma metabolomes using GC-MS/MS metabolomics. We investigated differences in metabolomes between arterial and venous blood and their associations with gestational length, birth weight, sex, and whether the baby was the first born or not, as well as maternal age and BMI. Using multilevel random forest analysis, a classification rate of 79% was achieved for arteriovenous differences (p = 0.004). Several monosaccharides had higher concentrations in the arterial cord plasma while amino acids were higher in venous plasma, suggesting that the main differences in the measured arterial and venous plasma metabolomes are related to amino acid and energy metabolism. Venous cord plasma metabolites related to energy metabolism were positively associated with parity (77% classification rate, p = 0.004) while arterial cord plasma metabolites were not. This underlines the importance of defining cord blood type for metabolomic studies.
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23.
  • Burgu, Berk, et al. (författare)
  • An unusual cause of infantile gynecomastia: sertoli cell tumor.
  • 2011
  • Ingår i: Journal of pediatric hematology/oncology. - 1536-3678. ; 33:3, s. 238-40
  • Tidskriftsartikel (refereegranskat)abstract
    • Prepubertal testicular masses are relatively rare. Sertoli cell tumors account for 2% of prepubertal testicular tumors and very few have occurred in the first decade of life. Gynecomastia can be seen in approximately 5% of patients with testicular mass. We present an 8-month-old boy admitted with bilateral gynecomastia and unilateral testicular mass.
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24.
  • Karlsson, Caroline, et al. (författare)
  • 5-Hydroxytryptamine contracts human uterine artery smooth muscle predominantly via 5-HT2 receptors
  • 1997
  • Ingår i: Human Reproduction. - 0268-1161. ; 12:2, s. 361-367
  • Tidskriftsartikel (refereegranskat)abstract
    • Serotonergic receptors were classified in the isolated human uterine artery with intact endothelium, using agonists and antagonists for 5-hydroxytryptamine (5-HT) receptors. The efficacy for different agonists rated: alpha-methyl-5-HT (5-HT2) = 5-HT (non-selective) = 2-methyl-5-HT (5-HT3) >> sumatriptan (5-HT1), and the potency as: sumatriptan = 5-HT > 5-HT > alpha-methyl-5-HT > 2-methyl-5-HT. The contractile effects of 5-HT and alpha-methyl-5-HT were antagonized by the 5-HT2 receptor antagonist ketanserin and the non-selective antagonist methiothepin. The efficacy of sumatriptan was comparatively low. No interaction was encountered between 2-methyl-5-HT and MDL72222, suggesting an absence of 5-HT3 receptors. The results indicate that the contractile serotonergic receptor population in the human uterine artery mainly comprises 5-HT2 receptors, although a minor contribution of contractile 5-HT1 receptors cannot be excluded.
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25.
  • Karlsson, Caroline, et al. (författare)
  • Characterization of 5-hydroxytryptamine receptors mediating circular smooth muscle contraction in the human umbilical artery
  • 1999
  • Ingår i: Gynecologic and Obstetric Investigation. - : S. Karger AG. - 1423-002X .- 0378-7346. ; 47:2, s. 102-107
  • Tidskriftsartikel (refereegranskat)abstract
    • The study was performed to characterize pharmacologically the contractile 5-hydroxytryptamine (5-HT) receptors in the circular smooth muscle of the isolated human umbilical artery. Effects of agonists and antagonists for different 5-HT receptor subtypes were studied in intact endothelium vessel segments. All agonists induced concentration-dependent circular smooth muscle contractions. The potency was in declining order 5-HT > alpha-methyl-5-HT > sumatriptan >/= 2-methyl-5-HT. The effects of 5-HT and alpha-methyl-5-HT were antagonized by ketanserin, as well as methiothepin. The contractile effect of sumatriptan was antagonized by methiothepin but not by ketanserin. The 5-HT3 receptor antagonist, MDL 72222, did not affect the contraction by any of the agonists, including 2-methyl-5-HT. It is concluded that the 5-HT-induced contraction in the circular smooth muscle of the human umbilical artery seems to be mediated by a mixed population of 5-HT1-like receptors and 5-HT2 receptors.
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26.
  • Decker, Ralph, 1968, et al. (författare)
  • Case report of a girl with secondary amenorrhea associated with aurantiasis cutis
  • 2016
  • Ingår i: Hormone Research in Paediatrics. - : S. Karger AG. - 1663-2818 .- 1663-2826.
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
    • Introduction: --- Aurantiasis cutis is a condition of yellowish or golden skin discoloration that can result from eating excessive amounts of foods containing carotene leading to hypercarotenemia(1), described causing secondary amenorrhea(2). Objective & hypothesis: --- Hypercarotenemia can cause secondary amenorrhea without overconsumption of excessive quantities of carotene. Results: --- Laboratory tests showed a ß-Carotene level more than the 2-fold above the upper reference level. Hyperbilirubinemia could be excluded. Hypogonadotropic hypogonadism was not present. There was no evidence for adrenal dysfunction. Liver function tests were normal. Material/ Methods: --- A 16-year-old girl presented to our endocrine outpatient clinic with a 2-year history of varying yellow discoloration of her skin and secondary amenorrhea. The findings of the general physical examination were normal, but there was a marked yellow discoloration of the palms, soles, and nasolabial folds. A dietary history revealed a low carotene diet, but also a low carbohydrate diet. BMI was 19.9 kg/m² (-0.2 SDS) without signs of anorexia. Discussion: --- In this girl we observed hypercarotenemia associated with secondary nonhypothalamic amenorrhea in absence of excess external intake of carotenes. This suggests an intrinsic reason due to a polymorphism(3) in ß-carotene 15,15'-monooxygenase (BCO)(4), an enzyme breaking down carotenes to vitamin A(5). Phenotype-genotype association studies are needed to confirm this hypothesis. Conclusion: --- Secondary non-hypothalamic amenorrhea can be associated with hypercarotenemia. References: --- 1. Tanikawa K, Seta K, Machii A, Itoh S 1961 [Aurantiasis cutis due to overeating of dried laver (nori): a case report]. Jpn J Med Sci Biol 50:414-419 2. Kemmann E, Pasquale SA, Skaf R 1983 Amenorrhea associated with carotenemia. JAMA 249:926-929 3. Leung WC, Hessel S, Meplan C, Flint J, Oberhauser V, Tourniaire F, Hesketh JE, von Lintig J, Lietz G 2009 Two common single nucleotide polymorphisms in the gene encoding beta-carotene 15,15'-monoxygenase alter beta-carotene metabolism in female volunteers. FASEB j 23:1041-1053 4. Frumar AM, Meldrum DR, Judd HL 1979 Hypercarotenemia in hypothalamic amenorrhea. Fertil Steril 32:261-264 5. Lindqvist A, Andersson S 2002 Biochemical properties of purified recombinant human beta-carotene 15,15'-monooxygenase. J Biol Chem 277:23942-23948
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27.
  • Kumar, Manish, 1982, et al. (författare)
  • Gut microbiota dysbiosis is associated with malnutrition and reduced plasma amino acid levels: Lessons from genome-scale metabolic modeling
  • 2018
  • Ingår i: Metabolic Engineering. - : Elsevier BV. - 1096-7176 .- 1096-7184. ; 49, s. 128-142
  • Tidskriftsartikel (refereegranskat)abstract
    • Malnutrition is a severe non-communicable disease, which is prevalent in children from low-income countries. Recently, a number of metagenomics studies have illustrated associations between the altered gut microbiota and child malnutrition. However, these studies did not examine metabolic functions and interactions between individual species in the gut microbiota during health and malnutrition. Here, we applied genome-scale metabolic modeling to model the gut microbial species, which were selected from healthy and malnourished children from three countries. Our analysis showed reduced metabolite production capabilities in children from two lowincome countries compared with a high-income country. Additionally, the models were also used to predict the community-level metabolic potentials of gut microbes and the patterns of pairwise interactions among species. Hereby we found that due to bacterial interactions there may be reduced production of certain amino acids in malnourished children compared with healthy children from the same communities. To gain insight into alterations in the metabolism of malnourished (stunted) children, we also performed targeted plasma metabolic profiling in the first 2 years of life of 25 healthy and 25 stunted children. Plasma metabolic profiling further revealed that stunted children had reduced plasma levels of essential amino acids compared to healthy controls. Our analyses provide a framework for future efforts towards further characterization of gut microbial metabolic capabilities and their contribution to malnutrition.
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28.
  • Lavesson, Ann, et al. (författare)
  • Development of a language screening instrument for Swedish 4-year-olds
  • 2018
  • Ingår i: International journal of language and communication disorders. - : Wiley. - 1368-2822 .- 1460-6984. ; 53:3, s. 605-614
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundThe Swedish Program for health surveillance of preschool children includes screening of language and communication abilities. One important language screening is carried out at age 4 years as part of a general screening conducted by health nurses at child health centres. The instruments presently in use for this screening mainly focus on expressive phonology. This may result in both over-referral of children with phonological difficulties and under-referral of children with language disorders (LDs), involving difficulties with vocabulary, grammar and/or language comprehension. Previous research has proposed non-word repetition as a clinical marker for LD. It has also been found that higher predictive power is achieved when non-word repetition is combined with the assessment of lexical/semantic skills. Taking these findings into account, the construction of a language screening instrument may yield more adequate referrals to speech-language therapists (SLTs). AimsTo construct a new standardized language screening instrument for 4-year-olds and to test its properties. Methods & ProceduresAn instrument was developed and revised after piloting. A population of 352 children was screened at the regular 4-year check-up by 11 health nurses. The final sample consisted of 328 children aged 46-53 months (23% multilingual). Children performing below a preliminary cut-off were referred to an SLT (n = 52). Five SLTs carried out an assessment on average within 5 weeks using a gold standard language test battery. Children who screened negatively were followed up with a parent questionnaire at age 5;6. Outcomes & ResultsThirty-one true-positives and 11 false-positives were identified after SLT assessment. A further six children were identified as false-negatives (two through referral to an SLT and four through parent questionnaire at age 5;6). A receiver-operating characteristics curve with a C statistic of .94 was calculated. Based on optimal cut-off, the sensitivity of the screening instrument was found to be .84, and specificity was .96. Multilingual children performed similar to monolingual children; boys performed significantly lower than girls; and children with a family history of language-related problems performed lower than those without. Interrater reliability was high, as was Cronbach's alpha. Conclusions & ImplicationsThe screening instrument seems sufficiently valid for its purpose to identify children who need further assessment by an SLT. A follow-up study including SLT assessment for all children to check for false-negatives would be interesting in future, as would studies comparing results from the 4-year screening with those from earlier screens.
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29.
  • Steen Carlsson, Katarina, et al. (författare)
  • Pain, depression and anxiety in people with haemophilia from three Nordic countries: Cross-sectional survey data from the MIND study
  • 2022
  • Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 28:4, s. 557-567
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction People with haemophilia (PwH) may experience symptoms of haemophilia-related pain, depression or anxiety, which can negatively impact health-related quality of life. Aim To obtain the perspective of PwH and treaters from Sweden, Finland and Denmark on the management of haemophilia-related pain, depression and anxiety using cross-sectional survey data from the MIND study (NCT03276130). Methods PwH or their caregivers completed a survey about experiences of pain, depression and anxiety related to haemophilia, and the standard EQ-5D-5L instrument. Five investigators at haemophilia treatment centres (HTC) were sent a complementary survey containing questions about the management of pain and depression/anxiety. Results There were 343 PwH (mild: 103; moderate: 53; severe: 180; seven lacking severity information) and 71 caregiver responses. Experience of pain in the last 6 months was reported by 50% of PwH respondents and 46% of caregiver respondents. Anxiety/depression was reported by 28% of PwH respondents. Reporting of pain and anxiety/depression was associated with disease severity. Whilst 62% of PwH who had experienced pain at any time point (n = 242) felt this was adequately addressed and treated at their HTC, only 24% of those who had experienced depression/anxiety (n = 127) felt this was adequately addressed. Disease severity was negatively associated with EQ-5D-5L utility value (p < .001). In the HTC survey, 4/5 and 2/5 agreed that pain and depression/anxiety, respectively, are adequately addressed. Conclusions Pain and depression/anxiety occur more frequently with increasing haemophilia severity, with negative impacts on health-related quality of life. PwH with depression/anxiety or unaddressed pain could benefit from improved management strategies.
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30.
  • Nyberg, Jan, 1960-, et al. (författare)
  • Osseointegration of implants in irradiated bone with and without hyperbaric oxygen treatment : an experimental study in rat tibiae
  • 2013
  • Ingår i: International Journal of Oral & Maxillofacial Implants. - : Quintessence Publishing Co., Inc.. - 0882-2786 .- 1942-4434. ; 28:3, s. 739-746
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Hyperbaric oxygen (HBO) has been recommended to enhance implant osseointegration in irradiated bone. The aim of this study was to further investigate the effects of HBO on implant integration in irradiated bone tissue.Materials and Methods: The present study was an experimental intraindividual study in 16 rats. A single fraction of 20 Gy external irradiation was applied to one rat hind leg, while the other served as a nonirradiated control. Three days after radiation, two implants were inserted in each tibial tuberosity. The rats were divided into two groups: non-HBO treated (group 1) and HBO treated (group 2). Five weeks after radiation, removal torque tests were performed. Implants with surrounding tissue were processed to undecalcified cut and ground sections for histomorphometric evaluations of bone-to-implant contact and bone area. Retrieved bones were also investigated with dual-energy x-ray absorptiometry.Results: The non-HBO treated rats (group 1) demonstrated higher, but not statistically significantly higher, values in the nonirradiated leg for all investigated parameters compared to the HBO-treated rats (group 2). However, the mean value for bone area was significantly higher in the irradiated sides compared to the nonirradiated control sides.Conclusions: In the present study, HBO treatment did not have a significant impact on osseointegration of implants in irradiated bone.
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31.
  • Burgu, Berk, et al. (författare)
  • Pelvic reduction during pyeloplasty for antenatal hydronephrosis: does it affect outcome in ultrasound and nuclear scan postoperatively?
  • 2010
  • Ingår i: Urology. - : Elsevier BV. - 1527-9995 .- 0090-4295. ; 76:1, s. 169-74
  • Tidskriftsartikel (refereegranskat)abstract
    • To compare ultrasound (US) scan and nuclear renography findings in patients who underwent pyeloplasty with and without pelvic reduction in a randomized prospective study.A total of 42 patients, all prenatally diagnosed with unilateral hydronephrosis, were included. Hydronephrosis was confirmed postnatally. Twenty patients were randomly selected to undergo pyeloplasty with pelvic reduction and 22 underwent pelvis-sparing pyeloplasty. Patients were evaluated with mercaptoacetyltriglycine-3 scans on the sixth month and US scans on the first, third, and sixth months, postoperatively. Mean follow-up was 37 +/- 5.6 weeks. Statistical analyses were performed using chi-square test and significance was set as P <.05. Power analyses were performed by the NCSS-PASS program. Power value of 0.84 was calculated for a sample size of 42.The anteroposterior pelvic diameter decreased significantly in the pelvic reduction group compared with pelvis-sparing group in the first- and third-month US scans. However, the difference was not significant in the sixth month. The improvements in the US findings for the pelvis-sparing group match with those of the pelvic reduction group later in the postoperative period. Pelvic reduction significantly improved the renal washout time (T(1/2)) in mercaptoacetyltriglycine-3 renography when compared with pyeloplasty group without reduction at postoperative sixth month. Differential renal function was found to be unaffected from pelvic reduction.Resolution of anteroposterior diameter in US scan is more prominent in the pelvic reduction group at earlier stages of the postoperative period. Although T(1/2) decreases more prominently in the pelvic reduction group, the utility of this procedure is still indecisive. This feature can reveal possible surgical failures earlier and strengthen the values of US and renography postoperatively.
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32.
  • Johansson Kostenniemi, Urban, 1987-, et al. (författare)
  • MeningiSSS : A New Predictive Score to Support Decision on Invasive Procedures to Monitor or Manage the Intracerebral Pressure in Children with Bacterial Meningitis
  • 2020
  • Ingår i: Neurocritical Care. - : Springer. - 1541-6933 .- 1556-0961. ; 32:2, s. 586-595
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Knowing the individual child’s risk is highly useful when deciding on treatment strategies, especially when deciding on invasive procedures. In this study, we aimed to develop a new predictive score for children with bacterial meningitis and compare this with existing predictive scores and individual risk factors.Methods: We developed the Meningitis Swedish Survival Score (MeningiSSS) based on a previous systematic review of risk factors. From this, we selected risk factors identified in moderate-to-high-quality studies that could be assessed at admission to the hospital. Using data acquired from medical records of 101 children with bacterial meningitis, we tested the overall capabilities of the MeningiSSS compared with four existing predictive scores using a receiver operating characteristic curve (ROC) analysis to assert the area under the curve (AUC). Finally, we tested all predictive scores at their cut-off levels using a Chi-square test. As outcome, we used a small number of predefined outcomes; in-hospital mortality, 30-day mortality, occurrence of neurological disabilities at discharge defined as Pediatric Cerebral Performance Category Scale category two to five, any type of complications occurring during the hospital stay, use of intensive care, and use of invasive procedures to monitor or manage the intracerebral pressure.Results: For identifying children later undergoing invasive procedures to monitor or manage the intracerebral pressure, the MeningiSSS excelled in the ROC-analysis (AUC = 0.90) and also was the only predictive score able to identify all cases at its cut-off level (25 vs 0%, p < 0.01). For intensive care, the MeningiSSS (AUC = 0.79) and the Simple Luanda Scale (AUC = 0.75) had the best results in the ROC-analysis, whereas others performed less well (AUC ≤ 0.65). Finally, while none of the scores’ results were significantly associated with complications, an elevated score on the MeningiSSS (AUC = 0.70), Niklasson Scale (AUC = 0.72), and the Herson–Todd Scale (AUC = 0.79) was all associated with death.Conclusions: The MeningiSSS outperformed existing predictive scores at identifying children later having to undergo invasive procedures to monitor or manage the intracerebral pressure in children with bacterial meningitis. Our results need further external validation before use in clinical practice. Thus, the MeningiSSS could potentially be helpful when making difficult decisions concerning intracerebral pressure management.
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33.
  • Orfanos, Ioannis, et al. (författare)
  • Paediatric emergency departments should manage young febrile and afebrile infants the same if they have a fever before presenting
  • 2022
  • Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 111:10
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim Our aim was to evaluate the risk of bacterial meningitis, bacteremia, and urinary tract infection (UTI) in infants <= 60 days who presented to paediatric emergency departments (PEDs) after having fever at home. We also investigated any differences between infants who were afebrile or febrile on presentation. Methods This was a multicenter retrospective study of infants <= 60 days presented to four Swedish PEDs during 2014-2020 with reported fever at home. We used relative risks (RR) to compare the prevalence of UTI, bacteremia, and bacterial meningitis between the infants who were afebrile and the infants who were still febrile when they presented to the PED. Results The cohort comprised 1926 infants, and 702 (36%) were afebrile on presentation. The prevalence of UTI in the afebrile and febrile infants was 6.1% [95% confidence interval (CI) 4.5-8.2] versus 14.2% (95% CI 12.3-16.2), corresponding to an RR of 0.43 (95% CI 0.31-0.59). In infants <= 28 days, the RR for meningitis was 1.05 (95% CI 0.18-6.23) for afebrile versus febrile infants. Five times more febrile infants underwent a lumbar puncture. Conclusion Infants who were afebrile on presentation underwent fewer lumbar punctures, but they had similar rates of bacterial meningitis to febrile infants. Different management approaches are not justified.
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34.
  • Almberg, Maria, et al. (författare)
  • Experiences of facilitators or barriers in driving education from learner and novice drivers with ADHD or ASD and their driving instructors
  • 2017
  • Ingår i: Developmental Neurorehabilitation. - : Taylor & Francis. - 1751-8423 .- 1751-8431. ; 20:2, s. 59-67
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Little is known about whether individuals with autism spectrum disorder (ASD) or attention deficit hyperactive disorder (ADHD) experience any specific facilitators or barriers to driving education.Objective: To explore the facilitators or barriers to driving education experienced by individuals with ASD or ADHD who obtained a learner’s permit, from the perspective of the learner drivers and their driving instructors.Methods: Data were collected from 33 participants with ASD or ADHD, and nine of their driving instructors.Results: Participants with ASD required twice as many driving lessons and more on-road tests than those with ADHD. Participants with ADHD repeated the written tests more than those with ASD. Driving license theory was more challenging for individuals with ADHD, whilst individuals with ASD found translating theory into practice and adjusting to “unfamiliar” driving situations to be the greatest challenges.Conclusion: Obtaining a driving license was associated with stressful training experience.
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35.
  • Amer, Ahmed, 1984-, et al. (författare)
  • Validity and test-retest reliability of Children's Hand-use Experience Questionnaire in children with unilateral cerebral palsy
  • 2016
  • Ingår i: Developmental Medicine & Child Neurology. - : Wiley-Blackwell. - 0012-1622 .- 1469-8749. ; 58:7, s. 743-749
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim: To investigate the validity of the internet-based version of the Children's Hand-use Experience Questionnaire (CHEQ) by testing the new four-category rating scale, internal structure, and test-retest reliability.Method: Data were collected for 242 children with unilateral cerebral palsy (CP) (137 males and 105 females; mean age 9y 10mo, SD 3y 5mo, range 6-18y). Twenty children from the study sample (mean age 11y 8mo, SD 3y 10mo) participated in a retest within 7 to 14 days. Validity was tested by Rasch analysis based on a rating scale model and test-retest reliability by Kappa analysis and intraclass correlation coefficient (ICC).Results: The four-category rating scale was within recommended criteria for rating scale structure. One item was removed because of misfit. CHEQ showed good scale structure according to the criteria. The effective operational range was >90% for two of the CHEQ scales. Test-retest reliability for the three CHEQ scales was: grasp efficacy, ICC=0.91; time taken, ICC=0.88; and feeling bothered, ICC=0.91.Interpretation: The internet-based CHEQ with a four-category rating scale is valid and reliable for use in children with unilateral CP. Further studies are needed to investigate the validity of the internet-based version of CHEQ for children with upper limb reduction deficiency or obstetric brachial plexus palsy and the validity of the recommended improvements to the current version.
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36.
  • Fernández de Gamarra-Oca, L., et al. (författare)
  • Hippocampal volumes and cognitive performance in children born extremely preterm with and without low-grade intraventricular haemorrhage
  • 2023
  • Ingår i: Brain Structure and Function. - : Springer. - 1863-2653 .- 1863-2661. ; 228:5, s. 1191-1200
  • Tidskriftsartikel (refereegranskat)abstract
    • Children born extremely preterm, especially those with intraventricular haemorrhage (IVH), are at increased risk of adverse cognitive outcomes during childhood. The present study aimed to explore the effects of IVH (grades I-II) on hippocampal volumes, and their correlates with cognitive performance. The sample consisted of 94 participants, including 54 children born extremely preterm (19 with IVH, grades I-II), and 40 children born at term. All participants underwent a magnetic resonance imaging study at the age of 10 (M-age = 10.20 years; SDage = 0.78), and 74 of them (45 extremely preterm and 29 full-term) carried out a cognitive assessment at 12 years old. Children born extremely preterm had lower scores in cognitive performance compared to their full-term peers. Significant positive partial correlations were observed between global bilateral hippocampus, left CA-field, and left subiculum volumes with processing speed in the full-term group, while no significant correlations were found in the extremely preterm group. Moderation analyses in the extremely preterm sample revealed that low-grade IVH moderated the relationship between right hippocampal volume and full-IQ (F((4,40) = )5.42, p = 0.001, R-2 = 0.35). Having greater right hippocampal volume had a protective effect on full-IQ in those children born extremely preterm with low-grade IVH.
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37.
  • Järvholm, Kajsa, et al. (författare)
  • Cognitive functioning in adolescents with severe obesity undergoing bariatric surgery or intensive non-surgical treatment in Sweden (AMOS2): a multicentre, open-label, randomised controlled trial
  • 2024
  • Ingår i: ECLINICALMEDICINE. - : ELSEVIER. - 2589-5370. ; 70
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Severe obesity during childhood is associated with cognitive deficits. Studies in adults have suggested improvements in executive functioning and memory after bariatric surgery. Our aim was to explore changes in cognitive function in adolescents over two years after bariatric surgery or intensive non-surgical treatment. Methods The Adolescent Morbid Obesity Surgery 2 (AMOS2) is a multicentre, open-label, randomised controlled trial in which adolescents (aged 13-16 years) with severe obesity (defined as body mass index (BMI) >= 35 kg/m(2)) at three specialised obesity centres in Sweden, were randomly assigned to receive bariatric surgery or intensive non-surgical treatment. Herein we report the results of the prespecified exploratory endpoint of change in cognitive functioning. Inclusion in AMOS2 required Tanner pubertal stage >= 3, previous participation in lifestyle obesity treatment for at least one year, and passed assessment form a paediatrician and a paediatric psychologist. Adolescents with severe intellectual disability or other severe, pervasive developmental disorder were excluded. Participants underwent baseline assessment of general intellectual ability, executive functioning, and memory before randomisation. Tests were administrated by clinical psychologists and repeated at one- and two-year follow-up timepoints. Differences in means between groups during follow-up are provided with confidence intervals. The trial is registered at ClinicalTrials.gov, NCT02378259. Findings Between October 28 2015 and June 7 2017, 46 adolescents (74% girls), with a mean age of 15.8 (+/- 0.92) years and a mean BMI of 42.8 (+/- 5.4) kg/m(2), were included and randomised (23 to bariatric surgery and 23 to intensive non-surgical treatment). At baseline 23/46 (50%) of the adolescents had general intellectual functioning classified as borderline or below. For 15/18 (83%) aspects of cognitive functioning, no significant differences in change over two years were identified between groups; Immediate (average difference during follow-up 1.0 [95% CI: -2.6 to 4.6]) and Delayed (0.5 [95% CI: -0.6 to 1.6]) Verbal Recall, Category Fluency (1.1 [95% CI: -1.6 to 3.8]) and Switching (1.5 [95% CI: -0.0 to 2.9]), Number (-6.0 [95% CI: -12.3 to 0.3]) and Letter (0.1 [95% CI: -5.2 to 5.3]) Sequencing, Number-Letter Switching (-10.3 [95% CI: -26.4 to 5.8]), Motor Speed (-8.3 [95% CI: -17.5 to 0.9]), Colour Naming (-1.9 [95% CI: -4.2 to 0.3]), Inhibition (-3.6 [95% CI: -9.6 to 2.5]), Inhibition Switching (-6.7 [95% CI: -15.3 to 1.9]), Mazes (-0.5 [95% CI: -4.9 to 3.9]), Digit Span Forward (0.1 [95% CI: -0.6 to 0.9 ]) and Backward (0.6 [95% CI: -0.4 to 1.6 ]), and Estimated IQ (0.4 [95% CI: -3.9 to 4.8]; all p > 0.05). Three sub-tests assessing fundamental cognitive skills improved more over two years in operated adolescents than in intensive non-surgical treatment; Letter Fluency (average difference during follow-up 3.8 [95% CI: 0.1-7.5]; p = 0.046), Visual Scanning (-6.5 [95% CI: -11.6 to -1.5]; p = 0.011), and Word Reading (-1.9 [95% CI: -3.3 to -0.4]; p = 0.011). Interpretation In contrast to non-randomised studies in adults, we could not demonstrate an association of bariatric surgery and its accompanying significant weight loss with overall greater improvement in executive functions and memory in adolescents over two years compared with a non-surgical group without weight loss. However, lack of statistical power is a potential limitation. The clinical relevance of greater improvements in basic cognitive skills needs to be explored. Funding Sweden's innovation agency (VINNOVA), Swedish Research Council, Joanna Cocozza foundation for paediatric research, The Skane University Hospital Psychology Research and Development Grant, Tore Nilsson's Foundation, SUS Foundations and Donations, and Mary von Sydow's Foundation. (c) 2024 The Author(s). Published by Elsevier Ltd.
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38.
  • Persson, K., et al. (författare)
  • Preoperative word-finding difficulties in children with posterior fossa tumours : a European cross-sectional study
  • 2024
  • Ingår i: Child's Nervous System. - 0256-7040 .- 1433-0350. ; 40:1, s. 87-97
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Posterior fossa tumour surgery in children entails a high risk for severe speech and language impairments, but few studies have investigated the effect of the tumour on language prior to surgery. The current crosslinguistic study addresses this gap. We investigated the prevalence of preoperative word-finding difficulties, examined associations with medical and demographic characteristics, and analysed lexical errors. Methods: We included 148 children aged 5–17 years with a posterior fossa tumour. Word-finding ability was assessed by means of a picture-naming test, Wordrace, and difficulties in accuracy and speed were identified by cut-off values. A norm-based subanalysis evaluated performance in a Swedish subsample. We compared the demographic and medical characteristics of children with slow, inaccurate, or combined slow and inaccurate word finding to the characteristics of children without word-finding difficulties and conducted a lexical error analysis. Results: Thirty-seven percent (n = 55) presented with slow word finding, 24% (n = 35) with inaccurate word finding, and 16% (n = 23) with both slow and inaccurate word finding. Children with posterior fossa tumours were twice as slow as children in the norming sample. Right-hemisphere and brainstem location posed a higher risk for preoperative word-finding difficulties, relative to left-hemisphere location, and difficulties were more prevalent in boys than in girls. The most frequent errors were lack of response and semantically related sideordinated words. Conclusion: Word-finding difficulties are frequent in children with posterior fossa tumours, especially in boys and in children with right-hemisphere and brainstem tumours. Errors resemble those observed in typical development and children with word-finding difficulties.
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39.
  •  
40.
  • Yang, Liu L., et al. (författare)
  • Effects of a Synbiotic on Plasma Immune Activity Markers and Short-Chain Fatty Acids in Children and Adults with ADHD—A Randomized Controlled Trial
  • 2023
  • Ingår i: Nutrients. - : MDPI AG. - 2072-6643 .- 2072-6643. ; 15:5
  • Tidskriftsartikel (refereegranskat)abstract
    • Synbiotic 2000, a pre + probiotic, reduced comorbid autistic traits and emotion dysregulation in attention deficit hyperactivity disorder (ADHD) patients. Immune activity and bacteria-derived short-chain fatty acids (SCFAs) are microbiota–gut–brain axis mediators. The aim was to investigate Synbiotic 2000 effects on plasma levels of immune activity markers and SCFAs in children and adults with ADHD. ADHD patients (n = 182) completed the 9-week intervention with Synbiotic 2000 or placebo and 156 provided blood samples. Healthy adult controls (n = 57) provided baseline samples. At baseline, adults with ADHD had higher pro-inflammatory sICAM-1 and sVCAM-1 and lower SCFA levels than controls. Children with ADHD had higher baseline sICAM-1, sVCAM-1, IL-12/IL-23p40, IL-2Rα, and lower formic, acetic, and propionic acid levels than adults with ADHD. sICAM-1, sVCAM-1, and propionic acid levels were more abnormal in children on medication. Synbiotic 2000, compared to placebo, reduced IL-12/IL-23p40 and sICAM-1 and increased propionic acid levels in children on medication. SCFAs correlated negatively with sICAM-1 and sVCAM-1. Preliminary human aortic smooth-muscle-cell experiments indicated that SCFAs protected against IL-1β-induced ICAM-1 expression. These findings suggest that treatment with Synbiotic 2000 reduces IL12/IL-23p40 and sICAM-1 and increases propionic acid levels in children with ADHD. Propionic acid, together with formic and acetic acid, may contribute to the lowering of the higher-than-normal sICAM-1 levels.
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41.
  • Pivodic, Aldina, 1978, et al. (författare)
  • Individual Risk Prediction for Sight-Threatening Retinopathy of Prematurity Using Birth Characteristics
  • 2020
  • Ingår i: JAMA Ophthalmology. - : American Medical Association (AMA). - 2168-6165 .- 2168-6173. ; 138:1, s. 21-29
  • Tidskriftsartikel (refereegranskat)abstract
    • Importance: To prevent blindness, repeated infant eye examinations are performed to detect severe retinopathy of prematurity (ROP), yet only a small fraction of those screened need treatment. Early individual risk stratification would improve screening timing and efficiency and potentially reduce the risk of blindness. Objectives: To create and validate an easy-to-use prediction model using only birth characteristics and to describe a continuous hazard function for ROP treatment. Design, Setting, and Participants: In this retrospective cohort study, Swedish National Patient Registry data from infants screened for ROP (born between January 1, 2007, and August 7, 2018) were analyzed with Poisson regression for time-varying data (postnatal age, gestational age [GA], sex, birth weight, and important interactions) to develop an individualized predictive model for ROP treatment (called DIGIROP-Birth [Digital ROP]). The model was validated internally and externally (in US and European cohorts) and compared with 4 published prediction models. Main Outcomes and Measures: The study outcome was ROP treatment. The measures were estimated momentary and cumulative risks, hazard ratios with 95% CIs, area under the receiver operating characteristic curve (hereinafter referred to as AUC), sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Results: Among 7609 infants (54.6% boys; mean [SD] GA, 28.1 [2.1] weeks; mean [SD] birth weight, 1119 [353] g), 442 (5.8%) were treated for ROP, including 142 (40.1%) treated of 354 born at less than 24 gestational weeks. Irrespective of GA, the risk for receiving ROP treatment increased during postnatal weeks 8 through 12 and decreased thereafter. Validations of DIGIROP-Birth for 24 to 30 weeks' GA showed high predictive ability for the model overall (AUC, 0.90 [95% CI, 0.89-0.92] for internal validation, 0.94 [95% CI, 0.90-0.98] for temporal validation, 0.87 [95% CI, 0.84-0.89] for US external validation, and 0.90 [95% CI, 0.85-0.95] for European external validation) by calendar periods and by race/ethnicity. The sensitivity, specificity, PPV, and NPV were numerically at least as high as those obtained from CHOP-ROP (Children's Hospital of Philadelphia-ROP), OMA-ROP (Omaha-ROP), WINROP (weight, insulinlike growth factor 1, neonatal, ROP), and CO-ROP (Colorado-ROP), models requiring more complex postnatal data. Conclusions and Relevance: This study validated an individualized prediction model for infants born at 24 to 30 weeks' GA, enabling early risk prediction of ROP treatment based on birth characteristics data. Postnatal age rather than postmenstrual age was a better predictive variable for the temporal risk of ROP treatment. The model is an accessible online application that appears to be generalizable and to have at least as good test statistics as other models requiring longitudinal neonatal data not always readily available to ophthalmologists.
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42.
  • Timpka, Toomas, 1957-, et al. (författare)
  • Community-level football injury epidemiology : traumatic injuries treated at Swedish emergency medical facilities
  • 2018
  • Ingår i: European Journal of Public Health. - : Oxford University Press. - 1101-1262 .- 1464-360X. ; 28:1, s. 94-99
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Despite the popularity of the sport, few studies have investigated community-level football injury patterns. This study examines football injuries treated at emergency medical facilities using data from three Swedish counties.Methods: An open-cohort design was used based on residents aged 0-59 years in three Swedish counties (pop. 645 520). Data were collected from emergency medical facilities in the study counties between 1 January 2007 and 31 December 2010. Injury frequencies and proportions for age groups stratified by sex were calculated with 95% confidence intervals (95% CIs) and displayed per diagnostic group and body location.Results: Each year, more than 1/200 person aged 0-59 years sustained at least one injury during football play that required emergency medical care. The highest injury incidence was observed among adolescent boys [2009 injuries per 100 000 population years (95% CI 1914-2108)] and adolescent girls [1413 injuries per 100 000 population years (95% CI 1333-1498)]. For female adolescents and adults, knee joint/ligament injury was the outstanding injury type (20% in ages 13-17 years and 34% in ages 18-29 years). For children aged 7-12 years, more than half of the treated injuries involved the upper extremity; fractures constituted about one-third of these injuries.Conclusions: One of every 200 residents aged 0-59 years in typical Swedish counties each year sustained a traumatic football injury that required treatment in emergency healthcare. Further research on community-level patterns of overuse syndromes sustained by participation in football play is warranted.
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43.
  • Chung, Jou Ku, et al. (författare)
  • Development and verification of a pharmacokinetic model to optimize physiologic replacement of rhIGF-1/rhIGFBP-3 in preterm infants
  • 2017
  • Ingår i: Pediatric Research. - : Springer Science and Business Media LLC. - 0031-3998 .- 1530-0447. ; 81:3, s. 504-510
  • Tidskriftsartikel (refereegranskat)abstract
    • Background:rhIGF-1/rhIGFBP-3 is being investigated for prevention of retinopathy of prematurity in extremely preterm infants.Methods:A population pharmacokinetic model was developed using data from phase I/II (Sections A-C) trials of rhIGF-1/rhIGFBP-3 and additional studies in preterm infants to predict optimal dosing to establish/maintain serum IGF-1 within physiological intrauterine levels. In Section D of the phase II study, infants (gestational age (GA) (wk+d) 23+0 to 27+6) were randomized to rhIGF-1/rhIGFBP-3, administered at the model-predicted dose of 250 μg/kg/d continuous i.v. infusion up to postmenstrual age (PMA) 29 wk+6 d or standard of care. An interim pharmacokinetic analysis was performed for the first 10 treated infants to verify dosing.Results:Serum IGF-1 data were reviewed for 10 treated/9 control infants. Duration of therapy in treated infants ranged 1-34.5 d. At baseline (before infusion and <24 h from birth), mean (SD) IGF-1 was 19.2 (8.0) μg/l (treated) and 15.4 (4.7) μg/l (controls). Mean (SD) IGF-1 increased to 45.9 (19.6) μg/l at 12 h in treated infants, and remained within target levels for all subsequent timepoints. For treated infants, 88.8% of the IGF-1 measurements were within target levels (controls, 11.1%).Conclusion:Through the reported work, we determined appropriate rhIGF-1/rhIGFBP-3 dosing to achieve physiological intrauterine serum IGF-1 levels in extremely preterm infants.
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44.
  • Fält, Elisabet, et al. (författare)
  • Agreement between mothers', fathers', and teachers' ratings of behavioural and emotional problems in 3-5-year-old children
  • 2018
  • Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 13:11
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The Strengths and Difficulties Questionnaire (SDQ), a valid and reliable instrument for measuring children's mental health, is available in parent- and teacher versions, making it an ideal tool for assessing behavioural and emotional problems in young children. However, few studies have evaluated inter-parent agreement on the SDQ, and in most studies on SDQ agreement, parent scores are either provided by only one parent or have been combined into one parent score. Furthermore, studies on SDQ inter-rater agreement usually only reflect degree of correlation, leaving the agreement between measurements unknown. The aim of the present study was therefore to examine both degree of correlation and agreement between parent and teacher SDQ reports, in a community sample of preschool-aged children in Sweden.Methods: Data were obtained from the Children and Parents in Focus trial. The sample comprised 4,46 children 3-5-years-old. Mothers, fathers and preschool teachers completed the SDQ as part of the routine health check-ups at Child Health Centres. Inter-rater agreement was measured using Pearson correlation coefficient and intraclass correlation (ICC).Results: Results revealed poor/fair agreement between parent and teacher ratings (ICC 0.25-0.54) and good/excellent agreement between mother and father ratings (ICC 0.66-0.76). The highest level of agreement between parents and teachers was found for the hyperactivity and peer problem subscales, whereas the strongest agreement between parents was found for the hyperactivity and conduct subscales.Conclusions: Low inter-rater agreement between parent and teacher ratings suggests that information from both teachers and parents is important when using the SDQ as a method to identify mental health problems in preschool children. Although mothers and fathers each provide unique information about their child's behaviour, good inter-parent agreement indicates that a single parent informant may be sufficient and simplify data collection.
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45.
  • Morsing, Eva, et al. (författare)
  • Neurodevelopmental disorders and somatic diagnoses in a national cohort of children born before 24 weeks of gestation
  • 2022
  • Ingår i: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253 .- 1651-2227. ; 111:6, s. 1167-1175
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim: This study investigated childhood diagnoses in children born extremely preterm before 24 weeks of gestation. Methods: Diagnoses of neurodevelopmental disorders and selected somatic diagnoses were retrospectively retrieved from national Swedish registries for children born before 24 weeks from 2007 to 2018. Their individual medical files were also examined. Results: We studied 383 children born at a median of 23.3 (range 21.9–23.9) weeks, with a median birthweight of 565 (range 340–874) grams. Three-quarters (75%) had neurodevelopmental disorders, including speech disorders (52%), intellectual disabilities (40%), attention deficit hyperactivity disorder (30%), autism spectrum disorders (24%), visual impairment (22%), cerebral palsy (17%), epilepsy (10%) and hearing impairment (5%). More boys than girls born at 23 weeks had intellectual disabilities (45% vs. 27%, p < 0.01) and visual impairment (25% vs. 14%, p < 0.01). Just over half of the cohort (55%) received habilitation care. The majority (88%) had somatic diagnoses, including asthma (63%) and failure to thrive/short stature (39%). Conclusion: Most children born before 24 weeks had neurodevelopmental disorders and/or additional somatic diagnoses in childhood and were referred to habilitation services. Clinicians should be aware of the multiple health and developmental problems affecting these children. Resources are needed to identify their long-term support needs at an early stage.
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46.
  • Peters, Lynn, et al. (författare)
  • Multiple antibiotic resistance as a risk factor for mortality and prolonged hospital stay: A cohort study among neonatal intensive care patients with hospital-acquired infections caused by gram-negative bacteria in Vietnam
  • 2019
  • Ingår i: PLOS ONE. - : PUBLIC LIBRARY SCIENCE. - 1932-6203. ; 14:5
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Antibiotic resistance (ABR) is an increasing burden for global health. The prevalence of ABR in Southeast Asia is among the highest worldwide, especially in relation to hospital acquired infections (HAI) in intensive care units (ICU). However, little is known about morbidity and mortality attributable to ABR in neonates. Aim This study aimed to assess mortality and the length of hospitalization attributable to ABR in gram-negative bacteria (GNB) causing HAI in a Vietnamese neonatal ICU (NICU). Methods We conducted a prospective cohort study (n = 296) in a NICU in Hanoi, Vietnam, from March 2016 to October 2017. Patients isolated with HAI caused by GNB were included. The exposure was resistance to multiple antibiotic classes, the two outcomes were mortality and length of hospital stay (LOS). Data were analysed using two regression models, controlling for confounders and effect modifiers such as co-morbidities, time at risk, severity of illness, sex, age, and birthweight. Results The overall case fatality rate was 44.3% and the 30 days mortality rate after infection was 31.8%. For every additional resistance to an antibiotic class, the odds of a fatal outcome increased by 27% and LOS increased by 2.1 days. These results were statistically significant (p amp;lt; 0.05). Conclusion ABR was identified as a significant risk factor for adverse outcomes in neonates with HAI. These findings are generally in line with previous research in children and adults. However, heterogeneous study designs, the neglect of important confounders and varying definitions of ABR impair the validity, reliability, and comparability of results.
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47.
  •  
48.
  • Petridou, Eleni Th., et al. (författare)
  • In vitro fertilization and risk of childhood leukemia in Greece and Sweden
  • 2012
  • Ingår i: Pediatric Blood & Cancer. - : Wiley. - 1545-5009 .- 1545-5017. ; 58:6, s. 930-936
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Cancer risk in children born after in vitro fertilization (IVF) remains largely unknown. We aimed to investigate risk of leukemia and lymphoma following IVF using two nationwide datasets. Methods. The hospital-based case-control study in Greece derived from the National Registry for Childhood Hematological Malignancies (1996-2008, 814 leukemia and 277 lymphoma incident cases with their 1: 1 matched controls). The Swedish casecontrol study was nested in the Swedish Medical Birth Register (MBR) (1995-2007, 520 leukemia and 71 lymphoma cases with their 5,200 and 710 matched controls) with ascertainment of incident cancer cases in the National Cancer Register. Study-specific and combined odds ratios (OR) were estimated using conditional logistic regression, with adjustment for possible risk factors. Results. Nationwide studies pointed to similar size excess risk of leukemia following IVF, but to a null association between IVF and lymphoma. The proportion of leukemia cases conceived through IVF was 3% in Greece and 2.7% in Sweden; prevalence of IVF in matched controls was 1.8% and 1.6%, respectively. In combined multivariable analyses, the increased risk of leukemia was confined to age below 3.8 years (OR 2.21; 95% confidence interval, CI: 1.27-3.85) and to acute lymphoblastic leukemia (ALL) (OR 1.77; 95% CI: 1.062.95) with no sufficient evidence of excess risk for other leukemias (OR 1.34; 95% CI: 0.38-4.69). Following IVF, OR for ALL was 2.58 (95% CI: 1.37-4.84) before age 3.8 and 4.29 (95% CI: 1.4912.37) before age 2 years. Conclusions. IVF seems to be associated with increased risk of early onset ALL in the offspring. 
  •  
49.
  • Arbetsterapi för barn och ungdom
  • 2016. - 1
  • Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
    • I Arbetsterapi för barn och ungdom har 28 ledande experter inom arbetsterapi bidragit med gedigen kunskap och klinisk erfarenhet av barn och ungdom med funktionsnedsättningar.I boken finns ett tydligt fokus på aktiviteter i barnens vardag men även i förhållande till hälsa, samhälle och transition från barn till vuxenlivet. Arbetsterapi för barn och ungdom tar även upp aktiviteter kring lek, skola och fritid samt hur barn lär sig nya aktiviteter, och hur de kan träna och kompensera för nedsatt funktion. Kommunikation, kognitivt stöd och förmågan att använda sina händer behandlas också. 
Boken representerar forskningsläget för svensk arbetsterapi inom området barn och ungdom. Den visar att det finns en bredd i den pågående forskningen men också att det behövs mer kunskap. Arbetsterapi för barn och ungdom riktar sig till arbetsterapeuter inom grundutbildning och fortbildning samt till verksamma arbetsterapeuter och andra yrkesgrupper som möter funktionsnedsatta barn och ungdomar.
  •  
50.
  • Engström, Maria, 1958-, et al. (författare)
  • Functional magnetic resonance imaging in narcolepsy and the Kleine-Levin syndrome
  • 2014
  • Ingår i: Frontiers in Neurology. - Switzerland : Frontiers Media SA. - 1664-2295. ; 5
  • Tidskriftsartikel (refereegranskat)abstract
    • This work aims at reviewing the present state of the art when it comes to understanding the pathophysiology of narcolepsy and the Kleine-Levin syndrome (KLS) from a neuroimaging point of view. This work also aims at discussing future perspectives of functional neuroimaging in these sleep disorders. We focus on functional magnetic resonance imaging (fMRI), which is a technique for in vivo measurements of brain activation in neuronal circuitries under healthy and pathological conditions. fMRI has significantly increased the knowledge on the affected neuronal circuitries in narcolepsy and the Kleine-Levin syndrome. It has been shown that narcolepsy is accompanied with disturbances of the emotional and the closely related reward systems. In the Kleine Levin syndrome, fMRI has identified hyperactivation of the thalamus as a potential biomarker that could be used in the diagnostic procedure. The fMRI findings in both narcolepsy and the Kleine-Levin syndrome are in line with previous structural and functional imaging studies. We conclude that fMRI in combination with multi-modal imaging can reveal important details about the pathophysiology in narcolepsy and the Kleine-Levin syndrome. In the future, fMRI possibly gives opportunities for diagnostic support and prediction of treatment response in individual patients.
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