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Sökning: WFRF:(Lindstedt Sven)

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1.
  • Choque Olsson, Nora, et al. (författare)
  • Social Skills Training for Children and Adolescents With Autism Spectrum Disorder : A Randomized Controlled Trial
  • 2017
  • Ingår i: Journal of the American Academy of Child and Adolescent Psychiatry. - : Elsevier. - 0890-8567 .- 1527-5418. ; 56:7, s. 585-592
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: Social skills group training (SSGT) for children and adolescents with autism spectrum disorder (ASD) is widely applied, but effectiveness in real-world practice has not yet been properly evaluated. This study sought to bridge this gap.METHOD: This 12-week pragmatic randomized controlled trial of SSGT compared to standard care alone was conducted at 13 child and adolescent psychiatry outpatient units in Sweden. Twelve sessions of manualized SSGT ("KONTAKT") were delivered by regular clinical staff. Participants (N = 296; 88 females and 208 males) were children (n = 172) and adolescents (n = 124) aged 8 to 17 years with ASD without intellectual disability. The primary outcome was the Social Responsiveness Scale rating by parents and blinded teachers. Secondary outcomes included parent- and teacher-rated adaptive behaviors, trainer-rated global functioning and clinical severity, and self-reported child and caregiver stress. Assessments were made at baseline, posttreatment, and 3-month follow-up. Moderator analyses were conducted for age and gender.RESULTS: Significant treatment effects on the primary outcome were limited to parent ratings for the adolescent subgroup (posttreatment: -8.3; 95% CI = -14.2 to -1.9; p = .012, effect size [ES] = 0.32; follow-up: -8.6; 95% CI = -15.4 to -1.8; p = .015, ES = 0.33) and females (posttreatment: -8.9; 95% CI = -16.2 to -1.6; p = .019, ES = 0.40). Secondary outcomes indicated moderate effects on adaptive functioning and clinical severity.CONCLUSION: SSGT for children and adolescents with ASD in regular mental health services is feasible and safe. However, the modest and inconsistent effects underscore the importance of continued efforts to improve SSGT beyond current standards.CLINICAL TRIAL REGISTRATION INFORMATION: Social Skills Group Training ("KONTAKT") for Children and Adolescent With High-functioning Autism Spectrum Disorders; https://clinicaltrials.gov/; NCT01854346.
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2.
  • Nordenström, Anna, et al. (författare)
  • Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.
  • 2008
  • Ingår i: Journal of pediatric gastroenterology and nutrition. - 1536-4801. ; 47:1, s. 98-101
  • Tidskriftsartikel (refereegranskat)abstract
    • Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked disorder caused by impaired ability to metabolize glycerol resulting in elevated levels of glycerol in blood and urine (1). Glycerol kinase catalyzes the phosphorylation of glycerol to glycerol-3-phosphate, an important intermediate in both lipid and carbohydrate metabolism. Glycerol kinase deficiency can be found as an isolated enzyme deficiency or as part of an Xp21 contiguous gene syndrome resulting in a so-called complex form involving NR0B1 (DAX1, the locus associated with adrenal hypoplasia congenita) and the Duchenne muscular dystrophy gene. Isolated GKD may in some cases be present without symptoms; however, in other cases children with isolated GKD may present with vomiting, metabolic acidosis, ketotic hypoglycemia, lethargy, and unconsciousness. These crises can be associated with infections or strenuous physical activity (2). The patients have high concentrations of glycerol in blood and urine (3). Most laboratories determine triglyceride concentration by measuring glycerol after hydrolysis of triglycerides and make the assumption that the glycerol concentration is equal to the triglyceride concentration. This can lead to misinterpretation of the laboratory results and consequently a high level of free glycerol (before hydrolysis) in the case of GKD results in a false report of high triglyceride concentration. We describe the critical clinical course in a patient with isolated GKD who had not received a diagnosis when he acquired a fulminant Epstein-Barr virus (EBV) infection, which resulted in the development of acute liver failure. The reported elevated triglyceride levels were initially interpreted as an indication of hemophagocytic lymphohistiocytosis (HLH), which possibly complicated the clinical course. Molecular genetic investigations revealed a previously undescribed microdeletion of 4 nucleotides in the GK gene, resulting in the exclusion of 3 exons in the mRNA and an abolished enzyme activity.
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4.
  • Ahlman, Håkan, 1947, et al. (författare)
  • Cytotoxic treatment of adrenocortical carcinoma.
  • 2001
  • Ingår i: World journal of surgery. - 0364-2313. ; 25:7, s. 927-33
  • Tidskriftsartikel (refereegranskat)abstract
    • Adrenocortical carcinoma (ACC) is a rare, aggressive tumor that is often detected in an advanced stage. Medical treatment with the adrenotoxic drug mitotane has been used for decades, but critical prospective trials on its role in residual disease or as an adjuvant agent after surgical resection are still lacking. The concept of a critical threshold plasma level of the drug must be confirmed in controlled studies. Because individual responsiveness cannot be predicted, the use mitotane is still advised for nonresectable disease. In case of cortisol or other steroid overproduction, several drugs (e.g., ketoconazole or aminoglutethimide) may be used. Chemotherapy with single agents (e.g., doxorubicin or cisplatin) have been disappointing, with low response rates (< 30%) and a short response duration. Part of this refractoriness may be explained by the fact that ACC tumors express the multidrug-resistance gene MDR-1. Chemotherapy with multiple agents has been tested in smaller series and has resulted in significant side effects. The best results were achieved by the combination of etoposide, doxorubicin, and cisplatin associated with mitotane, achieving a response rate of 54%, including individual complete responses. To be able to make progress in treating advanced ACC disease, adjuvant multicenter trials must be encouraged. When mitotane-based therapies are used, monitored drug levels are mandatory.
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5.
  • Hellerud, Christina, 1955, et al. (författare)
  • Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
  • 2003
  • Ingår i: Molecular genetics and metabolism. - 1096-7192. ; 79:3, s. 149-59
  • Tidskriftsartikel (refereegranskat)abstract
    • Five cases of glycerol kinase deficiency are presented with clinical, biochemical, and genetic results. Two had the glycerol kinase deficiency as part of an Xp21 contiguous gene deletion syndrome-complex form-and three had an isolated form of the enzyme deficiency. In these we found two splice site mutations (IVS1+4A>G, IVS9-1G>T) and one insertion (1393_1394insG). In patients with the complex form, a deletion of the DAX1, GK genes and the distal part of the DMD gene was found. A computerized study was performed to predict the effects of the splice site mutations. It showed that the IVS9-1G>T mutation substantially altered and removed the wild-type site and enhanced a cryptic site seven nucleotides downstream, and that the IVS1+4A>G diminished the strength of the wild-type donor site from strong to leaky. To verify these predictions, we developed an RT-PCR system with gene-specific primers that exclusively amplifies the Xp21 glycerol kinase gene transcript. Identification of individuals at risk is motivated by a need to avoid delay in a correct diagnosis. For reliable identification of heterozygotes for isolated glycerol kinase deficiency, knowledge of the specific mutation in the proband is required. This is easily obtained with the RT-PCR analyses developed in this study.
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7.
  • Hellerud, Christina, 1955, et al. (författare)
  • Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.
  • 2003
  • Ingår i: Clinical chemistry and laboratory medicine : CCLM / FESCC. - 1434-6621. ; 41:1, s. 46-55
  • Tidskriftsartikel (refereegranskat)abstract
    • Recent recommendations in the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults (ATPIII) are expected to increase the number of triglyceride (TG) determinations and consequently the risk of misinterpretation of "non-blanked" results with co-determination of free glycerol. Glycerol-kinase deficiency (GKD) is one cause of falsely elevated TG results. The natural history of isolated GKD with symptom-free cases and cases with e.g. severe episodes of hypoglycemia and/or ketoacidosis challenges the laboratories to identify cases of GKD and family members at risk. "Blanked" methods reporting both glycerol and TG concentration are therefore desirable. Molecular studies of the glycerol kinase (GK) and DAX1 genes were performed on four cases of "persistent hypertriglyceridemia" found in an Italian population and on two pediatric cases with high serum glycerol concentration. Two new missense mutations were found (C358Y, T961). Molecular modeling on GK from E. coli, indicate that these mutations are located in parts of the enzyme important for enzyme formation or activity. One splice-site mutation, (IVS9A-1G>A), was found in two brothers. Splice-junction analysis indicates that it destroys the splice site and results in a mixture of mRNA. Deletion of the GK and DAX1 genes was found in one child with symptoms of adrenal failure. A female with glycerolemia and glyceroluria had normal GK activity but possibly slightly decreased ability to oxidize glycerol.
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8.
  • Khorram-Manesh, Amir, 1958, et al. (författare)
  • Adrenocortical carcinoma: surgery and mitotane for treatment and steroid profiles for follow-up.
  • 1998
  • Ingår i: World journal of surgery. - 0364-2313. ; 22:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Adrenocortical carcinoma (ACC) is a rare disease with a poor prognosis. It has been difficult to establish a strict treatment program for ACC, and better treatment alternatives and diagnostic tools must be sought. Even though surgery is the treatment of choice, the role of surgery in advanced disease has been questioned. Eighteen consecutive patients were treated at our unit over a 22-year period (1975-1997). All patients underwent surgery and were followed by our protocol, which includes urinary steroid profiles, clinical examinations, analysis of steroid hormones, and radiologic investigations. Twelve patients received mitotane with drug concentration measurements to deliver an effective, nontoxic dose. The median duration of mitotane treatment was 12 months. Few side effects were observed. Four patients with low-stage tumors underwent second-look operations with no pathologic findings. Five patients were subjected to repeat operations, and the mean duration of the disease-free interval before repeat surgery for these patients was 59 months. There was a significant positive correlation between the disease-free interval and the observed survival after repeat surgery. Eleven patients with intentionally curative surgery had their urinary steroid profiles tested several times postoperatively. For five patients preoperative urine samples were also available. Steroid profiles indicated recurrent disease despite normal radiologic findings in two of these five patients. The follow-up ranged from 6 weeks to 24 years. The predicted 5-year survival was 58% according to the Kaplan-Meier method. We conclude that monitoring serum concentrations of mitotane makes long-term treatment possible with few side effects; steroid profile analysis can be used for early detection of tumor recurrence; and repeat surgery for recurrence is of value for patients with long disease-free intervals.
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9.
  • Larochelle, Jean, et al. (författare)
  • Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
  • 2012
  • Ingår i: Molecular genetics and metabolism. - 1096-7206. ; 107:1-2, s. 49-54
  • Tidskriftsartikel (refereegranskat)abstract
    • Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency, MIM 276700) can cause severe hepatic, renal and peripheral nerve damage. In Québec, HT1 is frequent and neonatal HT1 screening is practiced. Nitisinone (NTBC, Orfadin ®) inhibits tyrosine degradation prior to the formation of toxic metabolites like succinylacetone and has been offered to HT1 patients in Québec since 1994.
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10.
  • Oosterhoff, Dinja, et al. (författare)
  • Intradermal Delivery of TLR Agonists in a Human Explant Skin Model: Preferential Activation of Migratory Dendritic Cells by Polyribosinic-Polyribocytidylic Acid and Peptidoglycans
  • 2013
  • Ingår i: Journal of Immunology. - : American Association of Immunologists. - 1550-6606. ; 190:7, s. 3338-3345
  • Tidskriftsartikel (refereegranskat)abstract
    • TLR agonists are attractive candidate adjuvants for therapeutic cancer vaccines as they can induce a balanced humoral and T cell-mediated immune response. With a dense network of dendritic cells (DCs) and draining lymphatics, the skin provides an ideal portal for vaccine delivery. Beside direct DC activation, TLR agonists may also induce DC activation through triggering the release of inflammatory mediators by accessory cells in the skin microenvironment. Therefore, a human skin explant model was used to explore the in vivo potential of intradermally delivered TLR agonists to stimulate Langerhans cells and dermal DCs in their natural complex tissue environment. The skin-emigrated DCs were phenotyped and analyzed for T cell stimulatory capacity. We report that, of six tested TLR-agonists, the TLR2 and -3 agonists peptidoglycan (PGN) and polyribosinic-polyribocytidylic acid (Poly I:C) were uniquely able to enhance the T cell-priming ability of skin-emigrated DCs, which, in the case of PGN, was accompanied by Th1 polarization. The enhanced priming capacity of Poly I:C-stimulated DCs was associated with a strong upregulation of appropriate costimulatory molecules, including CD70, whereas that of PGN-stimulated DCs was associated with the release of a broad array of proinflammatory cytokines. Transcriptional profiling further supported the notion that the PGN- and Poly I:C-induced effects were mediated through binding to TLR2/nucleotide-binding oligomerization domain 2 and TLR3/MDA5, respectively. These data warrant further exploration of PGN and Poly I:C, alone or in combination, as DC-targeted adjuvants for intradermal cancer vaccines. The Journal of Immunology, 2013, 190:3338-3345.
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