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- Hammarsjö, A., et al.
(författare)
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
- 2021
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Ingår i: Journal of Human Genetics. - : Springer Nature. - 1434-5161 .- 1435-232X. ; 66:10, s. 995-1008
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Tidskriftsartikel (refereegranskat)abstract
- Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.
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- Harrie, Lars, et al.
(författare)
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Some strategic national initiatives for the Swedish education in the geodata field
- 2014
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Ingår i: Proceedings of the AGILE'2014 International Conference on Geographic Information Science. - : AGILE Digital Editions. - 9789081696043
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Konferensbidrag (refereegranskat)abstract
- This paper describes national cooperation in Sweden launched by its universities and authorities, aimed at improving geodata education. These initiatives have been focused upon providing common access to geodata, the production of teaching materials in Swedish and organizing annual meetings for teachers. We argue that this type of cooperation is vital to providing high quality education for a poorly recognized subject in a country with a relatively small population.
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- Leifland, K, et al.
(författare)
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Comparison of stereotactic fine needle aspiration cytology and core needle biopsy in 522 non-palpable breast lesions
- 2003
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Ingår i: Acta radiologica (Stockholm, Sweden : 1987). - : SAGE Publications. - 0284-1851 .- 1600-0455. ; 44:4, s. 387-391
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To compare the accuracy of stereotactic fine needle aspiration cytologies (S-FNAC) and stereotactic core needle biopsies (S-CNB) in non-palpable breast lesions. Material and Methods: Between May 1993 and December 2000, 696 patients with mammographically detected lesions were biopsied both with S-FNAC and S-CNB. S-FNAC was performed with spinal needle 22- or 20-gauge and S-CNB with an automated 14-gauge gun. Results: Of the 696 patients, 522 (75%) underwent breast surgery with postoperative histopathology. In all, 448 of these 522 women (86%) had malignant and 74 (14%) had benign lesions. S-FNAC revealed cancer in 254 (57%) and probable cancer in 48 (11%) (sensitivity 68%, specificity 99.6%) and S-CNB revealed cancer in 388 (87%) and probable cancer in 18 (4%) (sensitivity 90%, specificity 98.8%) of these 448 patients. Conclusion: S-CNB was more accurate than S-FNAC in the diagnosis of non-palpable breast cancer.
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- Leifland, K, et al.
(författare)
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Stereotactic core needle biopsy in non-palpable breast lesions. What number is needed?
- 2004
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Ingår i: Acta radiologica (Stockholm, Sweden : 1987). - : SAGE Publications. - 0284-1851 .- 1600-0455. ; 45:2, s. 142-147
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To investigate whether three stereotactic core needle biopsies (S‐CNB) in non‐palpable breast lesion are enough for accurate preoperative diagnosis. Material and Methods: Between September 1994 and December 2000, 523 patients with mammographically detected breast lesions and who proceeded to surgery were preoperatively stereotactically biopsied with an automated 14‐gauge biopsy device. Three samples were taken from each lesion irrespective of whether the lesion presented as “microcalcifications only”, “microcalcifications and a mass”, or a “mass, architectural distorsion, or stellate lesion without microcalcifications”. The histopathology was divided into three subgroups: diagnostic, atypia (ranging from atypical cells to probably cancer), and non‐diagnostic material. Results: Post‐surgical histopathology diagnosed 454 (87%) malignant tumors and 69 (13%) benign lesions. Three S‐CNB correctly diagnosed the malignant tumors in 84% in the subgroup “microcalcifications only”. In the category “microcalcifications and a mass”, the diagnostic accuracy was 97% and in the subgroup “mass, architectural distorsion, or stellate lesion without microcalcifications” 3 S‐CNB resulted in 93% correct diagnostic material. In 19 of the 454 patients (4%) 1, 2 or all 3 preoperative S‐CNB showed atypia. In 20 patients (4%), all 3 S‐CNB were non‐diagnostic. Thirteen of these 20 patients had “microcalcifications only” and 7 had a mass without microcalcifications. Conclusion: Three S‐CNB were enough for correct diagnosis in “masses, architectural distorsions, or stellate lesions without microcalcifications” and in “microcalcifications and a mass”, but were not sufficient in “microcalcifications only”.
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