| 1. |
- Bartik, Zsuzsa, et al.
(författare)
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A genome-wide scan to locate regions associated with familial vesicoureteral reflux
- 2022
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Ingår i: Experimental and Therapeutic Medicine. - : Spandidos Publications. - 1792-0981 .- 1792-1015. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Vesicoureteral reflux (VUR) is a congenital malformation carrying a high risk of recurrent urinary tract infections (UTI) and, at worst, chronic renal failure. Familial clustering implies a genetic etiology, but studies during the past few decades have demonstrated a causal gene variant in <10% of patients with VUR. The aim of the present study was to search for fully or partially shared ancestral haplotypes in 14 families from south-western Sweden with at least three affected members. High-density single nucleotide polymorphism microarray was used for genotyping prior to analysis with a compatibility matching method developed in-house, and the analysis of copy number variations (CNV). No single unique haplotype was revealed to be shared by the families, thereby excluding a common ancestry and founder mutations as a probable cause of VUR. After evaluation of haplotypes shared by subsets of families, a haplotype shared by nine families was found to be of particular interest. This haplotype, located at chromosomal region 4q21.21, harbours two tentative candidate genes (bone morphogenetic protein 3 and fibroblast growth factor 5), both expressed in metanephros and with known functions during nephrogenesis. As to CNV, only one family had a specific CNV shared by all affected members. This was a focal deletion at 5q31.1 including follistatin-like 4, a gene without a previous known connection to VUR. These data demonstrated the genetic heterogeneity of VUR and indicated that an interaction of environmental and genetic factors, including non-coding and epigenetic regulators, all contribute to the complexity of VUR.
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| 2. |
- Embring, A., et al.
(författare)
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Re-irradiation in Paediatric Tumours of the Central Nervous System: National Guidelines from the Swedish Workgroup of Paediatric Radiotherapy
- 2023
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Ingår i: Clinical Oncology. - : Elsevier. - 0936-6555 .- 1433-2981. ; 35:9, s. 571-575
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Tidskriftsartikel (refereegranskat)abstract
- There is a lack of clinical protocols for re-irradiation in paediatric central nervous system (CNS) tumours. To fill this void, the Swedish Workgroup of Paediatric Radiotherapy (SBRTG) compiled national guidelines on re-irradiation in paediatric CNS tumours (diffuse intrinsic pontine glioma, ependymoma, germinoma and medulloblastoma). These have been in clinical practice since 2019 in all paediatric radiotherapy centres in Sweden. Since the implementation, the guidelines have been complemented with a yearly review on clinical outcome and toxicities in all paediatric patients treated according to the guidelines. This article presents the Swedish national guidelines on re-irradiation in paediatric CNS tumours. & COPY; 2023 Published by Elsevier Ltd on behalf of The Royal College of Radiologists.
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| 3. |
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| 4. |
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| 5. |
- Hjorth, Lars, et al.
(författare)
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Hög överlevnad efter barncancer, ibland till högt pris : [High survival after childhood cancer, sometimes at a high price]
- 2010
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Ingår i: Läkartidningen. - Stockholm : Sveriges läkarförbund. - 0023-7205 .- 1652-7518. ; 107:42, s. 2572-2575
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Tidskriftsartikel (refereegranskat)abstract
- I dag lever 80 procent av patienterna med cancer i barn- och ungdomsåren fem år efter diagnos.Ungefär 6 000–7 000 individer i Sverige är före detta barncancerpatienter.Sena komplikationer till sjukdom och behandling ses hos 60–70 procent av överlevarna.Extra utsatta är de med hjärntumör, de som strålbehandlats och vissa grupper som stamcellstransplanterats.Inte alla som behandlats för cancer i barn- och ungdomsåren drabbas av sena komplikationer.En kohortstudie bestående av alla i Norden som under 20 års ålder insjuknade i cancer (n ≈55 000) åren 1943–2008 har påbörjats 2010.Riktlinjer för uppföljning efter barncancer baserat på given behandling har tagits fram av Svenska arbetsgruppen för långtidsuppföljning efter barncancer (SALUB).
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| 6. |
- Kristensen, Ingrid, et al.
(författare)
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Assessment of volume segmentation in radiotherapy of adolescents; a treatment planning study by the Swedish Workgroup for Paediatric Radiotherapy
- 2014
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Ingår i: Acta Oncologica. - : Informa Healthcare. - 0284-186X .- 1651-226X. ; 53:1, s. 126-133
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Tidskriftsartikel (refereegranskat)abstract
- Background and purpose. The variability in target delineation for similar cases between centres treating paediatric and adolescent patients, and the apparent differences in interpretation of radiotherapy guidelines in the treatment protocols encouraged us to perform a dummy-run study as a part of our quality assurance work. The aim was to identify and quantify differences in the segmentation of target volumes and organs at risk (OARs) and to analyse the treatment plans and dose distributions. Materials and methods. Four patient cases were selected: Wilms tumour, Hodgkins disease, rhabdomyosarcoma of the prostate and chordoma of the skull base. The five participating centres received the same patient-related material. They introduced the cases in their treatment planning system, delineated target volumes and OARs and created treatment plans. Dose-volume histograms were retrieved for relevant structures and volumes and dose metrics were derived and compared, e. g. target volumes and their concordance, dose homogeneity index (HI), treated and irradiated volumes, remaining volume at risk and relevant V x and D x values. Results. We found significant differences in target segmentation in the majority of the cases. The planning target volumes (PTVs) varied two-to four-fold and conformity indices were in the range of 0.3-0.6. This resulted in large variations in dose distributions to OARs as well as in treated and irradiated volumes even though the treatment plans showed good conformity to the PTVs. Potential reasons for the differences in target delineation were analysed. Conclusion. Considerations of the growing child and difficulties in interpretation of the radiotherapy information in the treatment protocols were identified as reasons for the variation. As a result, clarified translated detailed radiotherapy guidelines for paediatric/adolescent patients have been recognised as a way to reduce this variation.
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| 8. |
- Köpf, Istvan, et al.
(författare)
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Characterization of four melanoma cell lines with electron microscopy, immunocytochemistry, cytogenetics, flow cytometry, and southern analysis.
- 1992
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Ingår i: Cancer genetics and cytogenetics. - : Elsevier BV. - 0165-4608. ; 62:2, s. 111-23
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Tidskriftsartikel (refereegranskat)abstract
- Four cell lines established from human metastatic malignant melanoma, derived from four patients, were analyzed. Ultrastructurally and immunocytochemically, the cultured tumor cells had retained characteristic features of melanocytes and of the primary malignant melanomas. The genetic stability was investigated by repeated flow-cytometric and cytogenetic analyses over 24 months of continuous cultivation. The DNA indices ranged from 1.7 to 2.1 and were stable during the entire period. The same was true for the karyotypes, which had modal numbers ranging from 50 to 84. The most common types of abnormalities were: isochromosomes i(1q), i(9q), translocations (1;17) and (3;6), and other aberrations (1p+,4p+,5p+,11p+,11q-,11q+). Abnormalities involving chromosome 1 were present in all cell lines, but loss of genetic material from chromosome 1p was demonstrated in only one of four cell lines when tested by the Southern blotting technique using a lambda MS1 probe.
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| 10. |
- Linet, Martha S., et al.
(författare)
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Maternal and perinatal risk factors for childhood brain tumors (Sweden)
- 1996
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Ingår i: Cancer Causes and Control. - 0957-5243 .- 1573-7225. ; 7:4, s. 437-448
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Tidskriftsartikel (refereegranskat)abstract
- Childhood brain tumors (CBT) include a diversity of rare neoplasms of largely unknown etiology. To assess possible maternal and perinatal risk factors for CBT according to subtype, we carried out a nested (within Swedish birth-cohorts, 1973-89) case-control study, utilizing data from the nationwide Birth Registry. We ascertained incident brain tumor cases through linkage of the nationwide Birth and Cancer Registries and randomly selected five living controls from the former, matching each case on gender and birthdate. There were 570 CBT cases, including 205 low grade astrocytomas, 58 high grade astrocytomas, 93 medulloblastomas, 54 ependymomas, and 160 'others.' Risks for all brain tumors combined were elevated in relation to: (i) three maternal exposures-oral contraceptives prior to conception (odds ratios [OR] = 1.6, 95 percent confidence interval [CI] = 1.0-2.8), use of narcotics (OR = 1.3, CI = 1.0-1.6), or penthrane (OR = 1.5, CI = 1.1-2.0) during delivery); (ii) characteristics of neonatal distress (a combined variable including low one-minute Apgar score, asphyxia [OR = 1.5, CI = 1.1-2.0]) or treatments for neonatal distress (use of supplemental oxygen, ventilated on mask, use of incubator, scalp vein infusion, feeding with a jejunal tube [OR = 1.6, CI = 0.9-2.6]); and (iii) neonatal infections (OR = 2.4, CI = 1.5-4.0). Higher subtype-specific risks, observed for a few risk factors, did not differ significantly from the risk estimates for all subtypes combined for the corresponding risk factors. Childhood brain tumors were not associated significantly with other maternal reproductive, lifestyle, or disease factors; perinatal pain, anesthetic medications, birth-related complications; or with birthweight, birth defects, or early neonatal diseases. These findings suggest several new leads, but only weak evidence of brain tumor subtype-specific differences.
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