| 1. |
- Karimi, Masoud, et al.
(författare)
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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
- 2018
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Ingår i: Hereditary Cancer in Clinical Practice. - : BMC. - 1731-2302 .- 1897-4287. ; 16
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundLynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and endometrial cancer, but also other cancer types. The purpose of this retrospective study was to characterize the tumour spectrum of the Swedish Lynch syndrome families.MethodsData were obtained from genetically verified 235 Lynch families from five of the six health care regions in Sweden. The material was stratified for gender, primary cancer, age and mutated gene and the relative proportions of specific cancer types were compared to those in the general population.ResultsA total of 1053 family members had 1493 cancer diagnoses of which 1011 were colorectal or endometrial cancer. Individuals with pathogenic variants in MLH1 and MSH2 comprised 78% of the cohort. Among the 482 non-colorectal/non-endometrial cancer diagnoses, MSH2 carriers demonstrated a significantly increased proportion of urinary tract, gastric, small bowel, ovarian and non-melanoma skin cancer compared to the normal population. MLH1 carriers had an elevated proportion of gastrointestinal cancers (gastric, small bowel, pancreas), while MSH6 carriers had more ovarian cancer than expected. Gastric cancer was predominantly noted in older generations.ConclusionLynch syndrome confers an increased risk for multiple cancers other than colorectal and endometrial cancer. The proportions of other cancers vary between different MMR genes, with highest frequency in MSH2-carriers. Gender and age also affect the tumour spectrum, demonstrating the importance of additional environmental and constitutional parameters in determining the predisposition for different cancer types.
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| 2. |
- Karimi, Masoud, et al.
(författare)
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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis 11 Medical and Health Sciences 1117 Public Health and Health Services
- 2018
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Ingår i: Hereditary Cancer in Clinical Practice. - : Springer Science and Business Media LLC. - 1731-2302 .- 1897-4287. ; 16:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and endometrial cancer, but also other cancer types. The purpose of this retrospective study was to characterize the tumour spectrum of the Swedish Lynch syndrome families. Methods: Data were obtained from genetically verified 235 Lynch families from five of the six health care regions in Sweden. The material was stratified for gender, primary cancer, age and mutated gene and the relative proportions of specific cancer types were compared to those in the general population. Results: A total of 1053 family members had 1493 cancer diagnoses of which 1011 were colorectal or endometrial cancer. Individuals with pathogenic variants in MLH1 and MSH2 comprised 78% of the cohort. Among the 482 non-colorectal/non-endometrial cancer diagnoses, MSH2 carriers demonstrated a significantly increased proportion of urinary tract, gastric, small bowel, ovarian and non-melanoma skin cancer compared to the normal population. MLH1 carriers had an elevated proportion of gastrointestinal cancers (gastric, small bowel, pancreas), while MSH6 carriers had more ovarian cancer than expected. Gastric cancer was predominantly noted in older generations. Conclusion: Lynch syndrome confers an increased risk for multiple cancers other than colorectal and endometrial cancer. The proportions of other cancers vary between different MMR genes, with highest frequency in MSH2-carriers. Gender and age also affect the tumour spectrum, demonstrating the importance of additional environmental and constitutional parameters in determining the predisposition for different cancer types.
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| 3. |
- Lagerstedt, Marianne, 1967-
(författare)
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Mot nätverkssjukvård i komplex miljö : - behov av en vetenskaplig syn på ledning för säker vård och effektiv resursanvändning
- 2016
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Since 2008 advanced home healthcare agencies (ASiH) in a larger Swedish county council has underwent a transformation, to become part of a coming concept: networked healthcare (NVS). NVS means that intermediate multi-organizational healthcare (IMV) will be produced often in the home, and from 2013 to an increasing number of patients in different age groups with different diagnoses and medical conditions - in large variability of needs. At the same time IMV has proved to be not simply practical to implement in a resource-efficient and patientsafe way. Based on theories from Command and Control Science the safetyproblem that arise in connection with IMV is a sign of the less known increasing need of the direction and coordination support that IMV requires.With a casestudy based research approach with interactive elements, different qualitative methods has been used in two phases between 2008 - 2013. The first phase is characterized by a phenomenological approach, while the second phase has a critical hermeneutic approach. Research methods includes fieldvisits with informal discussions, in-depth interviews, validation with respondents and two different methodologies for textanalysis.The main result shows that practical aggravating circumstances for safe care consists of lesser known and from 2013 increasing problems with direction and coordination, through expanded advanced IMV in the home as a part of NVS concept. This also as a result of inadequate and inappropriate direction and coordination support for IMV.The thesis concludes that the NVS represents a resource intensive health care concept, which requires a new view on the management issue and a network-related methodology for direction and coordination. This is to promote ethical, equitable, patientsafe and dignified advanced IMV so an optimized use of resources can be implemented, through shared responsibility and coordination in patientuniquely designed networkconstellations as a given work model.
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| 4. |
- Nyberg, Lena, 1979, et al.
(författare)
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Rapid identification of intact bacterial resistance plasmids via optical mapping of single DNA molecules
- 2016
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322 .- 2045-2322. ; 6
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Tidskriftsartikel (refereegranskat)abstract
- The rapid spread of antibiotic resistance - currently one of the greatest threats to human health according to WHO - is to a large extent enabled by plasmid-mediated horizontal transfer of resistance genes. Rapid identification and characterization of plasmids is thus important both for individual clinical outcomes and for epidemiological monitoring of antibiotic resistance. Toward this aim, we have developed an optical DNA mapping procedure where individual intact plasmids are elongated within nanofluidic channels and visualized through fluorescence microscopy, yielding barcodes that reflect the underlying sequence. The assay rapidly identifies plasmids through statistical comparisons with barcodes based on publicly available sequence repositories and also enables detection of structural variations. Since the assay yields holistic sequence information for individual intact plasmids, it is an ideal complement to next generation sequencing efforts which involve reassembly of sequence reads from fragmented DNA molecules. The assay should be applicable in microbiology labs around the world in applications ranging from fundamental plasmid biology to clinical epidemiology and diagnostics.
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| 5. |
- Bååth, Rasmus, et al.
(författare)
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A prototype based resonance model of rhythm categorization
- 2014
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Ingår i: i-Perception. - : SAGE Publications. - 2041-6695. ; 5:6, s. 548-558
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Tidskriftsartikel (refereegranskat)abstract
- Categorization of rhythmic patterns is prevalent in musical practice, an example of this being the transcription of (possibly not strictly metrical) music into musical notation. In this article we implement a dynamical systems’ model of rhythm categorization based on the resonance theory of rhythm perception developed by Large (2010). This model is used to simulate the categorical choices of participants in two experiments of Desain and Honing (2003). The model accurately replicates the experimental data. Our results support resonance theory as a viable model of rhythm perception and show that by viewing rhythm perception as a dynamical system it is possible to model central properties of rhythm categorization.
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| 6. |
- Bååth, Rasmus, et al.
(författare)
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An Oscillator Model of Categorical Rhythm Perception
- 2013
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Ingår i: Cooperative Minds: Social Interaction and Group Dynamics. - Austin, TX : Cognitive Science Society, Inc.. - 9780976831891 ; , s. 1803-1808
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Konferensbidrag (refereegranskat)abstract
- Categorical perception is a well studied phenomenon in, for example, colour perception, phonetics and music. In this article we implement a dynamical systems model of categorical rhythm perception based on the resonance theory of rhythm perception developed by Large (2010). This model is used to simulate the categorical choices of participants in two experiments of Desain and Honing (2003). The model is able to accurately replicate the experimental data. Our results supports that resonance theory is a viable model of rhythm perception and they show that by viewing rhythm perception as a dynamical system it is possible to model properties of categorical perception.
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| 7. |
- Frykholm, Karolin, 1977, et al.
(författare)
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Fast size-determination of intact bacterial plasmids using nanofluidic channels
- 2015
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Ingår i: Lab on a Chip. - : Royal Society of Chemistry (RSC). - 1473-0189 .- 1473-0197. ; 15:13, s. 2739-2743
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Tidskriftsartikel (refereegranskat)abstract
- We demonstrate how nanofluidic channels can be used as a tool to rapidly determine the number and sizes of plasmids in bacterial isolates. Each step can be automated at low cost, opening up opportunities for general use in microbiology labs.
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| 8. |
- Gustafsson Asting, Annika, et al.
(författare)
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Genetic Copy Number Variations in Colon Mucosa Indicating Risk for Colorectal Cancer.
- 2014
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Ingår i: Journal of Cancer Therapy. - : Scientific Research Publishing, Inc.. - 2151-1934 .- 2151-1942. ; 5:14
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Tidskriftsartikel (refereegranskat)abstract
- Background: Sporadic colorectal tumors probably carry genetic alterations that may be related to familiar clusters according to risk loci visualized by SNP arrays on normal tissues. The aim of the present study was therefore to search for DNA regions (copy number variations, CNVs) as biomarkers associated to genetic susceptibility for early risk predictions of colorectal cancer. Such sequence alterations could provide additional information on phenotypic grouping of patients. Material and Methods: High resolution 105K oligonucleotide microarrays were used in search for CNV loci in DNA from tumor-free colon mucosa at primary operations for colon cancer in 60 unselected patients in comparison to DNA in buffy coat cells from 44 confirmed tumor-free and healthy blood donors. Array-detected CNVs were confirmed by Multiplex ligation-dependent probe amplification (MLPA). Results: A total number of 205 potential CNVs were present in DNA from colon mucosa. 184 (90%) of the 205 potential CNVs had been identified earlier in mucosa DNA from healthy individuals as reported to the Database of Genomic Variants. Remaining 21 (10%) CNVs were potentially novel sites. Two CNVs (3q23 and 10q21.1) were significantly related to colon cancer, but not confirmed in buffy coat DNA from the cancer patients. Conclusion: Our study reveals two CNVs that indicate increased risk for colon cancer; these DNA alterations may have been acquired by colon stem cells with subsequent appearance among epithelial mucosa cells. Impact: Certain mucosa CNV alterations may indicate individual susceptibility for malignant transformation in relationship to intestinal toxins and bacterial growth.
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| 9. |
- Hammar, Björn, et al.
(författare)
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A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance
- 2008
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 86:7, s. 758-763
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The aim of this study was to characterize the phenotype in a large family with autosomal-dominant recurrent corneal erosions, and also to exclude genetic linkage to known autosomal-dominant inherited corneal dystrophies with clinical resemblance. Methods: We describe the medical history and clinical findings in patients from a six-generation family with recurrent corneal erosions. A total of 28 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and analysed with polymorphic microsatellite markers close to known genes causing autosomal-dominant corneal dystrophies. Results: The patients had erosive symptoms that usually lasted from 1 to 7 days. The symptoms were described as early as at 8 months of age, and by the age of 5 the majority of the affected individuals suffered from recurrent corneal erosions. The attacks generally declined in frequency and intensity with age, and 52% of the patients developed central keloid-like corneal opacities. Nine patients received corneal grafts, and recurrences were seen in all grafts. The affected patients did not share haplotypes for genetic microsatellite markers surrounding known genes causing autosomal-dominant corneal dystrophies. Conclusion: We describe a new hereditary disease with recurrent corneal erosions. Attacks of symptoms similar to recurrent erosions dominate the phenotype, but half of those affected also developed corneal, keloid-like, central opacities. This disorder was not genetically linked to any clinically resembling corneal dystrophies with autosomal-dominant inheritance.
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| 10. |
- Hammar, Björn, et al.
(författare)
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Dystrophia Helsinglandica : a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis
- 2009
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Ingår i: Acta ophthalmologica. - : Wiley. - 1755-3768 .- 1755-375X. ; 87:6, s. 659-667
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To describe the phenotype of an autosomal-dominant corneal dystrophy with an early onset of recurrent corneal erosions and development of subepithelial fibrosis in the cornea, and also to exclude genetic linkage to known corneal dystrophies with autosomal-dominant inheritance and clinical resemblance. Methods: We describe the medical history and clinical findings in individuals from a seven-generation family with recurrent corneal erosions. A total of 43 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and polymorphic microsatellite markers were analysed to study haplotypes surrounding genes causing corneal dystrophies with similar phenotypes. Results: Erosive symptoms usually lasted for between 1 and 10 days. By the age of 7 almost all of the affected individuals suffered from recurrent corneal erosions. The attacks generally declined in frequency and intensity from the late 20s, but all examined individuals had developed subepithelial fibrosis by the age of 37. The fibrosis generally started in the mid periphery and was followed in some family members by central fibrosis and the development of gelatinous superficial elevations. Only a marginal reduction of visual acuity was seen in a few individuals. The affected individuals did not share haplotypes for genetic microsatellite markers surrounding genes that are known to cause autosomal-dominant corneal dystrophies. Conclusion: We describe a new type of autosomal-dominant corneal disorder with recurrent corneal erosions and subepithelial fibrosis not significantly affecting visual acuity.
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