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- Strömland, Kerstin, 1934, et al.
(författare)
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Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.
- 2007
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:12, s. 1317-1325
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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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| 4. |
- Toporski, Jacek, et al.
(författare)
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High-dose iodine-131-metaiodobenzylguanidine with haploidentical stem cell transplantation and posttransplant immunotherapy in children with relapsed/refractory neuroblastoma.
- 2009
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Ingår i: Biology of Blood and Marrow Transplantation. - : Elsevier BV. - 1083-8791. ; 15:9, s. 1077-1085
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Tidskriftsartikel (refereegranskat)abstract
- We evaluated the feasibility and efficacy of using high-dose iodine-131-metaiodobenzylguanidine ((131)I-MIBG) followed by reduced-intensity conditioning (RIC) and transplantation of T cell-depleted haploidentical peripheral blood stem cells (designated haplo-SCT) to treat relapsing/refractory neuroblastoma (RRNB). Five RRNB patients were enrolled: 4 with relapse (3 after autologous SCT) and 1 with induction therapy failure. The preparative regimen included high-dose (131)I-MIBG on day -20, followed by fludarabine (Flu), thiotepa, and melphalan (Mel) from day -8 to -1. Granulocyte-colony stimulating factor (G-CSF)-mobilized, T cell-depleted haploidentical paternal stem cells were infused on day 0 together with cultured donor mesenchymal stem cells. A single dose of rituximab was given on day +1. After cessation of short immunosuppression (mycophenolate, OKT3), 4 children received donor lymphocyte infusion (DLI). (131)I-MIBG infusion and RIC were well tolerated. All patients engrafted. No primary acute graft-versus-host disease (aGVHD) was observed. Four children developed aGVHD after DLI and were successfully treated. Analysis of immunologic recovery showed fast reappearance of potentially immunocompetent natural killer (NK) and T cells, which might have acted as effector cells responsible for the graft-versus-tumor (GVT) effect. Two children are alive and well, with no evidence of disease 40 and 42 months after transplantation. One patient experienced late progression with new bone lesions (sternum) 38 months after haplo-SCT, and is being treated with local irradiation and reinstituted DLI. One patient rejected the graft, was rescued with autologous backup, and died of progressive disease 5 months after transplantation. Another child relapsed 7 months after transplantation and died 5 months later. High-dose (131)I-MIBG followed by RIC and haplo-SCT for RRNB is feasible and promising, because 2 of 5 children on that regimen achieved long-lasting remission. Further studies are needed to evaluate targeted therapy and immune-mediated tumor control in high-risk neuroblastoma.
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| 6. |
- Larsson, Eva, et al.
(författare)
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Peripheral and central visual fields in 11-year-old children who had been born prematurely and at term
- 2004
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Ingår i: Journal of pediatric ophthalmology and strabismus. - : SLACK, Inc.. - 0191-3913 .- 1938-2405. ; 41, s. 39-
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To examine the peripheral and central visual fields in children who had been born prematurely and at term. METHODS: Four groups of 11-year-old children were examined: group 1 included 24 children who had been born at term (control group); group 2 included 20 children who had been born prematurely without ROP; group 3 included 22 children who had been born prematurely with untreated ROP (stages 2 and 3); and group 4 included 21 children who had been born prematurely and underwent cryotreatment for severe ROP. Their peripheral visual fields were examined with Goldmann perimetry. Static high-pass resolution perimetry was used to evaluate their central visual fields within 30 degrees. RESULTS: The peripheral visual fields were constricted in children who had undergone cryotreatment (group 4), as compared with the other groups (1 to 3). We found no difference between the groups of children who had been born prematurely with or without ROP (groups 2 and 3) and the control group. The function of the central visual fields, expressed as neural capacity, was reduced in the children who had been born prematurely compared with the controls, significantly in their left eyes only. The children who underwent cryotreament did not differ from the other children who had been born prematurely in this respect. CONCLUSIONS: The peripheral visual fields were constricted in children who had undergone cryotreatment. It is uncertain whether this was caused by the treatment or by severe ROP. The central visual fields showed a tendency of reduced neural capacity in the children who had been born prematurely, reflecting a reduced density of retinocortical neural channels. However, this was not related to ROP or cryotreatment.
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| 9. |
- Pesonen, Erkki, et al.
(författare)
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Elevated infection parameters and infection symptoms predict an acute coronary event.
- 2008
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Ingår i: Therapeutic Advances in Cardiovascular Disease. - : SAGE Publications. - 1753-9447 .- 1753-9455. ; 2:6, s. 419-424
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The etiology and significance of flu-like symptoms often appearing before myocardial infarction should be clarified. METHODS: In a case-control study of 323 matched controls and a random sample of 110 out of 351 cases the presence of infection symptoms during the preceding four weeks before admission were asked and blood samples taken. RESULTS: Enterovirus (EV), herpes simplex virus (HSV), and Chlamydia pneumoniae IgA titers were significantly higher in cases than in controls (p<0.001, 0.008 and 0.046, respectively). Flu-like symptoms appeared significantly more often in patients than in controls the most common one being fatigue (p<0.001). In controls with fatigue, EV and HSV titers showed a trend to be higher (1.50 vs 1.45 and 4.29 vs 3.73) than in controls without fatigue but only HSV titers were statistically significantly higher (3.47 vs 3.96, p = 0.02). Even CRP and amyloid A concentrations (3.49 vs 2.08, p<0.0001 and 5.70 vs 3.77 mg/l, p = 0.003, respectively) as well as C4 (0.40 vs 0.44, p = 0.02) were higher in controls with fatigue. CONCLUSIONS: Odds ratios for a coronary event in a logistic regression model were 4.79 for fatigue and 2.72 for EV antibody levels in their fourth quartile. A linear-by-linear association test showed increasing number of single symptoms with higher EV titer quartiles (p = 0.004).
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| 10. |
- Ruiz, Jonatan R., et al.
(författare)
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High cardiovascular fitness is associated with low metabolic risk score in children : the European Youth Heart Study
- 2007
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Ingår i: Pediatric Research. - Baltimore, Md : Williams and Wilkins Co. - 0031-3998 .- 1530-0447. ; 61:3, s. 350-355
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Tidskriftsartikel (refereegranskat)abstract
- The aim of the present study was to examine the associations of cardiovascular fitness (CVF) with a clustering of metabolic risk factors in children, and to examine whether there is a CVF level associated with a low metabolic risk. CVF was estimated by a maximal ergometer bike test on 873 randomly selected children from Sweden and Estonia. Additional measured outcomes included fasting insulin, glucose, triglycerides, HDLC, blood pressure, and the sum of five skinfolds. A metabolic risk score was computed as the mean of the standardized outcomes scores. A risk score <75th percentile was considered to indicate a low metabolic risk. CVF was negatively associated with clustering of metabolic risk factors in children. Receiver operating characteristic curve analysis showed a significant discriminatory accuracy of CVF in identifying the low/high metabolic risk in girls and boys (p < 0.001). The CVF level for a low metabolic risk was 37.0 and 42.1 mL/kg/min in girls and boys, respectively. These levels are similar to the health-related threshold values of CVF suggested by worldwide recognized organizations. In conclusion, the results suggest a hypothetical CVF level for having a low metabolic risk, which should be further tested in longitudinal and/or intervention studies. Abbreviations: AUC, area under the curve CVF, cardiovascular fitness ROC, receiver operating characteristic
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