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Mikaela Porkholm Anna Raunio Reetta Vainionpää Tarja Salonen Juha Hernesniemi Leena Valanne Jarno Satopää Atte Karppinen Minna Oinas Olli Tynninen Virve Pentikäinen Sanna‐Maria Kivivuori 《Pediatric blood & cancer》2018,65(1)
1 Background
Diffuse intrinsic pontine gliomas (DIPGs) have a dismal prognosis. Previously, diagnosis was based on a typical clinical presentation and magnetic resonance imaging findings. After the start of the era of biopsies, DIPGs bearing H3 K27 mutations have been reclassified into a novel entity, diffuse midline glioma, based on the presence of this molecular alteration. However, it is not well established how clinically diagnosed DIPG overlap with H3 K27‐mutated diffuse midline gliomas, and whether rare long‐term survivors also belong to this group.2 Methods
We studied tumor samples obtained at diagnosis or upon autopsy from 23 children, including two long‐term survivors. Based on clinical, radiological, and histological findings, all tumors were previously diagnosed as DIPGs. All samples were analyzed for genetic alterations by next‐generation sequencing (NGS) and for protein expression by immunohistochemistry (IHC).3 Results
H3 K27 was mutated in NGS or IHC in 20 patients, excluding both long‐term survivors. One of these long‐term survivors harbored a mutation in IDH1, formerly considered to be an alteration absent in pediatric diffuse brainstem gliomas. Other altered genes in NGS included TP53 (10 patients), MET and PDGFRA (3 patients each), VEGFR and SMARCA4 (2 patients each), and PPARγ, PTEN and EGFR in 1 patient, respectively. IHC revealed cMYC expression in 15 of 24 (63%) of all samples, exclusively in the biopsies.4 Conclusions
Eighty‐seven percent of the tumors formerly diagnosed as DIPGs could be reclassified as H3 K27‐mutated diffuse midline gliomas. Both long‐term survivors lacked this alteration. Contrary to former conceptions, IDH1 mutations may occur also in pediatric brainstem gliomas. 相似文献3.
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Virve Wahlstedt 《British journal of haematology》1990,76(3):420-426
In radioimmunoassay seven concentrated urines of penicious anaemia (PA) patients were positive for intrinsic factor (IF). Four were studied by gel filtration. Two contained both binding and blocking antibodies against IF, one had only blocking antibodies and one lacked both types of antibodies. The antibodies were mainly of the IgG-type. No such antibodies were found in the urine of a healthy person. None of the urines studied contained enough protein to be classified as proteinuric. Not until the interferences of the autoantibodies in the IF assay can be eliminated is the assay of value in the diagnosis of PA. 相似文献
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Ukkola A Mäki M Kurppa K Collin P Huhtala H Kekkonen L Kaukinen K 《European Journal of Internal Medicine》2012,23(4):384-388
ObjectiveThe clinical presentation of coeliac disease has changed and patients are often overweight at diagnosis. There is concern that patients might gain further weight while on a gluten-free diet (GFD). The aim of the study was to evaluate the impact of a GFD on the body mass index (BMI) in a nationwide cohort of coeliac patients and to determine variables predictive of favourable or unfavourable BMI changes.MethodsWe prospectively investigated weight and disease-related issues in 698 newly detected adults diagnosed due to classical or extraintestinal symptoms or by screening. BMI at diagnosis and after one year on a GFD were assessed and compared with that in the general population.ResultsAt diagnosis, 4% of subjects were underweight, 57% normal, 28% overweight and 11% obese. On a GFD, 69% of underweight patients gained and 18% of overweight and 42% of obese lost weight; in the rest BMI remained stable. Changes were similar in both symptom- and screen-detected patients. The coeliac group had a more favourable BMI pattern than the general population. Favourable BMI changes were associated with subjects' self-rated expertise on GFD and young age at diagnosis, but not dietary counselling received.ConclusionsBMI improved similarly in screen- and symptom-detected coeliac disease patients on a GFD. 相似文献
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Virve Koljonen Markku Laitila Harri Sintonen Risto P. Roine 《Burns : journal of the International Society for Burn Injuries》2013