| 1. |
- Hugosson, Claes
(författare)
-
Diagnosis of solid abdomino-pelvic tumours in children : A retrospective radiological study
- 1999
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Problems and Aims: Solid abdomino-pelvic tumours (APTs) in children constitute a heterogeneous group of masses which may originate from the retroperitoneum, the abdominal or pelvic cavities or any adjacent structure. They have different histological features, growth patterns and prognoses.The aim of the present investigation was to study the potential of modern imaging to assess the location, size and type of tumour, the extent of the disease and, if possible, the tumour stage in order to provide information to guide therapy.Materials and Methods: Imaging was performed in 92 children and adolescents with a primary APT using conventional radiography, radionuclide scintigraphy, US, CT and MR imaging for pre-treatment assessment, US-guided biopsies were performed in 61 children: the results were analysed retrospectively for yield and complications.Results: In pelvic bone tumours, all imaging modalities contributed to the evaluation of the primary tumour. Conventional radiography and bone scintigraphy were necessary for an initial diagnosis and CT for further evaluation. MR imaging and/or dynamic contrast-enhanced CT were mandatory prior to surgical resection.In primary kidney tumours contrast-enhanced CT and non-enhanced MR imaging were equally accurate in determining the size and origin of the tumours but were inadequate in assessment of tumour staging. MR imaging findings varied somewhat between Wilms' tumours and non-Wilms' tumours.In solid pelvic tumours compartmental localization was equally assessed with CT and MR and, together with gender, was found to correlate with the type of tumour.In abdominal neuroplastoma, evaluation of the local disease was equally accurate with CT and MR imaging, while assessment of invasion and lymphadenopathy was not possible regardless of imaging modality. Metastatic disease needed imaging with CT, MR, scintigraphy and bone marrow aspiration for assessment. Staging accuracy improved if an increased number of imaging methods were used.Needle core biopsy provided significantly better results than fine needle aspiration biopsy without an increase in complications.Conclusions: Assessment of APT in children requires the use of several different yet complementary imaging modalities in defining location, extent and tissue characteristics of the tumour. The choice of imaging modality depends on history, clinical findings, presumed location and available techniques. Pre-treatment assessment with imaging constitutes the basis for presentation of a staging protocol.
|
|
| 2. |
- Rasmussen, Eva Rye, et al.
(författare)
-
Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment.
- 2020
-
Ingår i: The Pharmacogenomics Journal. - : Springer Science and Business Media LLC. - 1470-269X .- 1473-1150. ; 20:6, s. 770-783
-
Tidskriftsartikel (refereegranskat)abstract
- Angioedema in the mouth or upper airways is a feared adverse reaction to angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blocker (ARB) treatment, which is used for hypertension, heart failure and diabetes complications. This candidate gene and genome-wide association study aimed to identify genetic variants predisposing to angioedema induced by these drugs. The discovery cohort consisted of 173 cases and 4890 controls recruited in Sweden. In the candidate gene analysis, ETV6, BDKRB2, MME, and PRKCQ were nominally associated with angioedema (p < 0.05), but did not pass Bonferroni correction for multiple testing (p < 2.89 × 10-5). In the genome-wide analysis, intronic variants in the calcium-activated potassium channel subunit alpha-1 (KCNMA1) gene on chromosome 10 were significantly associated with angioedema (p < 5 × 10-8). Whilst the top KCNMA1 hit was not significant in the replication cohort (413 cases and 599 ACEi-exposed controls from the US and Northern Europe), a meta-analysis of the replication and discovery cohorts (in total 586 cases and 1944 ACEi-exposed controls) revealed that each variant allele increased the odds of experiencing angioedema 1.62 times (95% confidence interval 1.05-2.50, p = 0.030). Associated KCNMA1 variants are not known to be functional, but are in linkage disequilibrium with variants in transcription factor binding sites active in relevant tissues. In summary, our data suggest that common variation in KCNMA1 is associated with risk of angioedema induced by ACEi or ARB treatment. Future whole exome or genome sequencing studies will show whether rare variants in KCNMA1 or other genes contribute to the risk of ACEi- and ARB-induced angioedema.
|
|
