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- Nilsson-Ehle, Herman, et al.
(författare)
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Quality of life, physical function and MRI T2*in elderly low-risk MDS patients treated to a haemoglobin level of andgt;= 120 g/L with darbepoetin alfa +/- filgrastim or erythrocyte transfusions
- 2011
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Ingår i: European Journal of Haematology. - : John Wiley and Sons. - 0902-4441 .- 1600-0609. ; 87:3, s. 244-252
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Anaemia in low-risk myelodysplastic syndromes (MDS) is associated with reduced quality of life (QoL). Response to treatment with erythropoietin +/- granulocyte colony-stimulating factor (G-CSF) is associated with improved QoL, but whether transfusion therapy with higher haemoglobin (Hb) target levels has similar effects is unknown. The objective for this prospective phase II Nordic multicentre trial was to assess QoL, response rate and physical function in elderly anaemic MDS patients treated to a target Hb level of andgt; 120 g /L. Methods: Thirty-six elderly patients with low-and intermediate-1 risk MDS received darbepoetin (DA) 300 mu g/wk, with the addition of G-CSF if no response. If the Hb target was reached at 16 wk, treatment was maintained until week 26. Remaining patients were transfused to reach the target level for at least 8 wk. Results: Twenty-seven patients completed the study. Response rate to DA +/- G-CSF was 67% in evaluable patients and 56% according to intention to treat. Eighteen patients reached the target Hb level according to protocol. QoL scores for fatigue, dyspnoea, constipation, and physical, role and social functioning improved significantly during study, with similar results for transfused and untransfused patients. Maintaining Hb andgt; 120 g /L did not confer a higher transfusion rate, once the target was reached. In two of fourteen patients, magnetic resonance imaging T2* indicated cardiac iron overload, however, without association with ferritin levels. Conclusions: In elderly anaemic MDS patients, an increment in haemoglobin is associated with improved QoL, whether induced by growth factor treatment or transfusion therapy.
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| 3. |
- Christesen, Henrik Thybo, et al.
(författare)
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Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
- 2020
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 63:1
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Tidskriftsartikel (refereegranskat)abstract
- Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. We report of an apparently non-syndromic infant with severe congenital hyperinsulinism (CHI) and diffuse pancreatic labelling by 18F*-DOPA-PET/CT leading to near-total pancreatectomy. The histology was atypical with pronounced proliferation of endocrine cells comprising >70% of the pancreatic tissue and a small pancreatoblastoma. Routine genetic analysis for CHI was normal in the blood and resected pancreatic tissue. At two years’ age, Beckwith-Wiedemann Syndrome (BWS) stigmata emerged, and at five years a liver tumour with focal nodular hyperplasia and an adrenal tumour were resected. pUPD was detected in 11p15 and next in the entire chromosome 11 with microsatellite markers. Quantitative fluorescent PCR with amplification of chromosome-specific DNA sequences for chromosomes 13, 18, 21 and X indicated GW-pUPD. A next generation sequencing panel with 303 SNPs on 21 chromosomes showed pUPD in both blood and pancreatic tissue. The mosaic distribution of GW-pUPD ranged from 31 to 35% in blood and buccal swap to 74% in the resected pancreas, 80% in a non-tumour liver biopsy, and 100% in the liver focal nodular hyperplasia and adrenal tumour. MLID features included transient conjugated hyperbilirubinaemia and lack of macrosomia from BWS (pUPD6); and behavioural and psychomotor manifestations of Angelman Syndrome (pUPD15) on follow-up. In conclusion, atypical pancreatic histology in apparently non-syndromic severe CHI patients may be the first clue to BWS and multi-syndromal CHI from GW-pUPD. Variations in the degree of mosaicism between tissues explained the phenotype.
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| 4. |
- Gorton, Lars, et al.
(författare)
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"Material adverse change"-klausuler
- 2007
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Ingår i: Vänbok till Axel Adlercreutz. - 9789154403684 ; , s. 117-132
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 8. |
- Samuelsson, Annika, 1964-, et al.
(författare)
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Disturbed intestinal microbiota (dysbiosis) and micro dynamics in patients treated for appendicitis and diverticulitis
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: The human gut microbiota is a large dynamic bacterial community, which is influenced by for instance antibiotic treatment and hospitalization. In patients with inflammatory bowel disease the diversity of gut microbiota is thought to be less diverse. The role of the gut microbiota in acute appendicitis and diverticulitis is still unclear. To investigate the microbial diversity in patients suffering from appendicitis or diverticulitis, and the microbiota dynamics after antibiotic therapy and hospitalization we performed an open observation study.Methods and population: We have performed 16S rRNA sequence analysis on 42 individuals diagnosed with appendicitis and 18 individuals with diverticulitis as well as 33 healthy controls. Cultivation of the aerobic bacterial flora was performed as a complement to sequence analysis.Results: In sequencing data at genus level, there are distinctive differences when comparing healthy controls to patients diagnosed with appendicitis. Healthy controls have a flora dominated by Bacteroides, and Faecalibacterium, Ruminococcus and Prevotella while appendicitis patients show an intestinal flora with a higher abundance of Escherichia/Shigella and unclassified Enterobacteriaceae. The same pattern, however not quite as distinct could be seen for the diverticulitis patients. The microbial diversity increases after treatment with antibiotics and hospitalization.In the cultivated aerobic flora there was a significant loss of Escherichia coli and a significant gain of Citrobacter species, in the appendicitis group. In the appendicitis group as well as in the diverticulitis group there was a significant gain of Enterococcus faecium and Yeasts.Conclusion: The main findings of this study are that patients arriving at the emergency department with acute appendicitis or diverticulitis have an already significant disturbed fecal microbiota previous to antibiotic treatment and hospitalization.
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| 9. |
- Samuelsson, Lars, et al.
(författare)
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Scoliosis and trunk asymmetry in upper limb transverse dysmelia
- 1997
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Ingår i: Journal of Pediatric Orthopaedics. - : Ovid Technologies (Wolters Kluwer Health). - 0271-6798 .- 1539-2570. ; 17:6, s. 769-72
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Tidskriftsartikel (refereegranskat)abstract
- The incidence of scoliosis and trunk asymmetry were studied in 60 patients with upper limb dysmelia of the transverse type. The evaluations were based on radiographic measurements of the spine and scoliometer readings of the angle of trunk rotation (ATR), which were correlated with the side and level of the limb deficiency and also with leg length-inequality (LLI). Nineteen patients (31%) had a scoliosis between 10 and 19 degrees, whereas the curves were between 5 and 10 degrees in another 30 patients and the remainder had no measurable curve. The scoliosis seemed at least partly to be of postural origin as LLI significantly correlated with the direction of the curves, but there was no correlation between the Cobb angles and the magnitude of LLI. The scoliometer readings did not correlate with the scoliosis or LLI. Our findings indicate that most patients with upper limb transverse amputations do not develop a significant scoliosis. A scoliometer screen has a low positive predictive rate for scoliosis and the diagnosis of scoliosis requires a radiograph of the spine.
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| 10. |
- Samuelsson, Marcus, 1967-, et al.
(författare)
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Berättelser om goda lärare förs vidare
- 2013
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Annan publikation (populärvet., debatt m.m.)abstract
- Det råder brist på lärare. Det slutar fler lärare än det utbildas nya. Fler måste lockas till att bli lärare. Nya vägar måste hittas för att nå ut till blivande lärarstudenter. Unga människor tillbringar numera mer tid framför datorn än de sitter framför tv:n eller läser tidningar. Det framstår därför som logiskt att söka nya lärare, unga människor, via kampanjer på internet och via sociala medier. Det framstår kanske lika logiskt att ge en alternativ bild av skolan och läraren än den vi vanligtvis nås av i medierna. För den bilden berättar inte hela historien.
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