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Book ; Conference proceedings: Retinal degenerative diseases / 19

Ash, John D. / Pierce, Eric / Anderson, Robert E. / Bowes Rickman, Catherine / Hollyfield, Joe G. / Grimm, Christian

(Advances in experimental medicine and biology ; 1415)

2023

Event/congress	International Symposium on Retinal Degeneration (19., 2021)
Series title	Advances in experimental medicine and biology ; 1415
Collection
Language	English
Size	xix, 588 Seiten, Ilustrationen
Publisher	Springer
Publishing place	Cham
Publishing country	Switzerland
Document type	Book ; Conference proceedings
Note	Contains the proceedings of the XIX International Symposium on Retinal Degeneration (RD2021)
HBZ-ID	HT030243226
ISBN	978-3-031-27680-4 ; 9783031276811 ; 3-031-27680-9 ; 3031276817
Database	Catalogue ZB MED Medicine, Health

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Zs A 3192 -1415	not available for loan	Lesesaal EG

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Article ; Online: Genetic Studies Investigating Susceptibility to Psoriatic Arthritis: A Narrative Review.

Soomro, Mehreen / Hum, Ryan / Barton, Anne / Bowes, John

Clinical therapeutics

2023 Volume 45, Issue 9, Page(s) 810–815

Abstract: Purpose: Approximately 30% of patients with psoriasis will develop psoriatic arthritis (PsA), leading to a decreased quality of life for the patient caused by increasing disability and additional health complications. The identification of risk factors ... ...

Abstract	Purpose: Approximately 30% of patients with psoriasis will develop psoriatic arthritis (PsA), leading to a decreased quality of life for the patient caused by increasing disability and additional health complications. The identification of risk factors for the development of PsA would facilitate the development of risk prediction models in which patients with psoriasis at high risk of developing PsA could be targeted in a stratified medicine approach, enabling early intervention and treatment. PsA is known to have a genetic contribution to susceptibility, and the identification of genetic risk factors that differentiate PsA from cutaneous-only psoriasis is a key area of research. This narrative review summarizes the discovery of genetic risk factors and, with the aid of a primer on risk prediction models, discusses their potential role for the classification of PsA risk and diagnosis. Methods: All relevant research articles were identified through searches of the PubMed database for literature published up until December 2022. Search terms included psoriatic arthritis, genetic susceptibility, genetic association, genome-wide association study, GWAS, prediction, and polygenic risk score. Findings: The current literature reveals considerable overlap between the genetic susceptibility loci for PsA and psoriasis. Several PsA-specific genetic risk factors have been reported, and most notably these implicate the HLA-B and IL23R genes. Efforts to include genetic risk factors in prediction models for the development of PsA have reported good discrimination. Implications: Key messages emerging from this narrative are as follows: the limited number of PsA-specific susceptibility loci reported to date suggest larger studies are required, facilitated by international collaboration, to achieve the power to detect further genetic factors; the early promising results for genetic-based risk prediction require further validation in independent datasets; and risk prediction models combining clinical and genetic risk factors have yet to be explored.
MeSH term(s)	Humans ; Arthritis, Psoriatic/genetics ; Genome-Wide Association Study ; Quality of Life ; Psoriasis/genetics ; Genetic Predisposition to Disease
Language	English
Publishing date	2023-07-27
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	603113-4
ISSN	1879-114X ; 0149-2918
ISSN (online)	1879-114X
ISSN	0149-2918
DOI	10.1016/j.clinthera.2023.07.003
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Zs.A 1435: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 404: Show issues

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Article ; Online: Genetically proxied TYK2 inhibition is associated with reduced sarcoidosis susceptibility.

Zhao, Sizheng Steven / Barton, Anne / Bowes, John

Annals of the rheumatic diseases

2022 Volume 82, Issue 3, Page(s) 445–446

MeSH term(s)	Humans ; Sarcoidosis/genetics ; Polymorphism, Single Nucleotide ; Genetic Predisposition to Disease ; TYK2 Kinase/genetics
Chemical Substances	TYK2 Kinase (EC 2.7.10.2) ; TYK2 protein, human (EC 2.7.10.2)
Language	English
Publishing date	2022-12-09
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	7090-7
ISSN	1468-2060 ; 0003-4967
ISSN (online)	1468-2060
ISSN	0003-4967
DOI	10.1136/ard-2022-223513
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Uh III Zs.114: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 167: Show issues

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Article ; Online: Association of Lipid-Lowering Drugs With Risk of Psoriasis: A Mendelian Randomization Study.

Zhao, Sizheng Steven / Yiu, Zenas Z N / Barton, Anne / Bowes, John

JAMA dermatology

2023 Volume 159, Issue 3, Page(s) 275–280

Abstract: Importance: Lipid pathways have been implicated in the pathogenesis of psoriasis, and some lipid-lowering drugs, such as statins, are hypothesized to have disease-modifying properties. However, large population-level studies are scarce, and causal ... ...

Abstract	Importance: Lipid pathways have been implicated in the pathogenesis of psoriasis, and some lipid-lowering drugs, such as statins, are hypothesized to have disease-modifying properties. However, large population-level studies are scarce, and causal interpretation of results from traditional observational designs is limited by confounding. Objective: To investigate the causal association between genetically proxied lipid-lowering drugs and psoriasis risk. Design, setting, and participants: This 2-sample mendelian randomization study was performed from August to October 2022 and included population-level genome-wide association studies of psoriasis in the UK Biobank and FinnGen studies and low-density lipoprotein (LDL) by the Global Lipids Genetics Consortium. The inverse variance-weighted method was used with pleiotropy robust methods and colocalization as sensitivity analyses. Exposures: Genetically proxied inhibition of 3-hydroxy-3-methylglutaryl CoA reductase (HMGCR, targeted by statins), Niemann-Pick C1-like 1 (NPC1L1, targeted by ezetimibe), and proprotein convertase subtilisin/kexin type 9 (PCSK9, targeted by, eg, alirocumab), using LDL as the biomarker. Main outcomes and measures: Risk of psoriasis. Results: Data from 12 116 patients with psoriasis and approximately 1.3 million individuals with LDL measurement were analyzed. Genetically proxied PCSK9 inhibition was associated with reduced risk of psoriasis (odds ratio, 0.69 per standard deviation reduction in LDL; 95% CI, 0.55-0.88; P = .003), which was replicated in FinnGen (odds ratio, 0.71; 95% CI, 0.57-0.88; P = .002). Sensitivity analyses did not provide statistical evidence of bias from pleiotropy or genetic confounding. No robust association was found for HMGCR or NPC1L1 inhibition. Conclusions and relevance: This mendelian randomization study suggests that PCSK9 is implicated in psoriasis pathogenesis, and its inhibition is associated with reduced psoriasis risk. These findings potentially pave the way for future studies that may allow personalized selection of lipid-lowering drugs for those at risk of psoriasis.
MeSH term(s)	Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects ; Proprotein Convertase 9/genetics ; Genome-Wide Association Study ; Mendelian Randomization Analysis ; Lipids
Chemical Substances	Hydroxymethylglutaryl-CoA Reductase Inhibitors ; PCSK9 protein, human (EC 3.4.21.-) ; Proprotein Convertase 9 (EC 3.4.21.-) ; Lipids
Language	English
Publishing date	2023-01-25
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2701761-8
ISSN	2168-6084 ; 2168-6068
ISSN (online)	2168-6084
ISSN	2168-6068
DOI	10.1001/jamadermatol.2022.6051
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Book ; Conference proceedings: Retinal degenerative diseases

Ash, John D. / Anderson, Robert E. / LaVail, Matthew M. / Bowes Rickman, Catherine / Hollyfield, Joe G. / Grimm, Christian

mechanisms and experimental therapy

(Advances in experimental medicine and biology ; 1074)

2018

Event/congress	International Symposium on Retinal Degeneration (17., 2016, Kyōto)
Series title	Advances in experimental medicine and biology ; 1074
Collection
Keywords	animal models ; oxidative stress ; carotenoids ; photoreceptor ; macular degeneration ; inflammation ; gene therapy
Subject code	610
Language	English
Size	xlii, 669 Seiten, Illustrationen, Diagramme, 23.5 cm x 15.5 cm
Publisher	Springer
Publishing place	Cham
Publishing country	Switzerland
Document type	Book ; Conference proceedings
HBZ-ID	HT019658312
ISBN	978-3-319-75401-7 ; 3-319-75401-7 ; 9783319754024 ; 3319754025
Database	Catalogue ZB MED Medicine, Health

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Zs A 3192 -1074-	not available for loan	Zeitschriften-Lesesaal

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Article: The Effect of Temperature on the Stability of African Swine Fever Virus BA71V Isolate in Environmental Water Samples.

Loundras, Eleni-Anna / Netherton, Christopher L / Flannery, John / Bowes, Michael J / Dixon, Linda / Batten, Carrie

Pathogens (Basel, Switzerland)

2023 Volume 12, Issue 8

Abstract: African swine fever virus (ASFV) is known to be very stable and can remain infectious over long periods of time especially at low temperatures and within different matrices, particularly those containing animal-derived organic material. However, there ... ...

Abstract	African swine fever virus (ASFV) is known to be very stable and can remain infectious over long periods of time especially at low temperatures and within different matrices, particularly those containing animal-derived organic material. However, there are some gaps in our knowledge pertaining to the survivability and infectivity of ASFV in groundwater. This study aims to determine the stability and infectivity of the cell culture-adapted ASFV strain BA71V by plaque assay after incubation of the virus within river water samples at three different environmentally relevant temperatures (4 °C, 15 °C, and 21 °C) over the course of 42 days. The results from this study indicate that ASFV can remain stable and infectious when maintained at 4 °C in river water for more than 42 days, but as incubation temperatures are increased, the stability is reduced, and the virus is no longer able to form plaques after 28 days and 14 days, respectively, when stored at 15 °C and 21 °C. Characterizing the survivability of ASFV in groundwater can allow us to develop more appropriate inactivation and disinfection methods to support disease control and mitigate ASFV outbreaks.
Language	English
Publishing date	2023-08-08
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2695572-6
ISSN	2076-0817
ISSN	2076-0817
DOI	10.3390/pathogens12081022
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Article ; Online: Orthopedic and ophthalmology surgical service forecast modelling in Manitoba: Research approach for a data linkage study.

Katz, Alan / Owczar, Hannah / Taylor, Carole / Bowes, John-Michael / Soodeen, Ruth-Ann

International journal of population data science

2023 Volume 8, Issue 1, Page(s) 2123

Abstract: Background: The healthcare system in Manitoba, Canada has faced long wait times for many surgical procedures and investigations, including orthopedic and ophthalmology surgeries. Wait times for surgical procedures is considered a significant barrier to ... ...

Abstract	Background: The healthcare system in Manitoba, Canada has faced long wait times for many surgical procedures and investigations, including orthopedic and ophthalmology surgeries. Wait times for surgical procedures is considered a significant barrier to accessing healthcare in Canada and can have negative health outcomes for patients. We developed models to forecast anticipated surgical procedure demands up to 2027. This paper explores the opportunities and challenges of using administrative data to describe forecasts of surgical service delivery. Methods: This study used whole population linked administrative health data to predict future orthopedic and ophthalmology surgical procedure demands up to 2027. Procedure codes (CCI) from hospital discharge abstracts and medical claims data were used in the modelling. A Seasonal Autoregressive Integrated Moving Average model provided the best fit to the data from April 1, 2004 to March 31, 2020. Results: Initial analyses of only hospital-based procedures excluded a significant portion of provider workload, namely those services provided in clinics. We identified 500,732 orthopedic procedures completed between April 1, 2004 and March 31, 2020 (349,171 procedures identified from hospital discharge abstracts and 151,561 procedures from medical claims). Procedure volumes for these services are expected to rise 17.7% from 2020 (36,542) to 2027 (43,011), including the forecasted 43.9% increase in clinic-based procedures. Of the 660,127 ophthalmology procedures completed between April 1, 2004 and March 31, 2020, 230,717 procedures were identified from hospital discharge abstracts and 429,410 from medical claims. Models forecasted a 27.7% increase from 2020 (69,598) to 2027 (88,893) with most procedures being performed in clinics. Conclusion: Researchers should consider including multiple datasets to add information that may have been missing from the presumed data source in their research approach. Confirming the completeness of the data is critical in modelling accurate predictions. Forecast modelling techniques have evolved but still require validation.
MeSH term(s)	Humans ; Ophthalmology ; Manitoba ; Orthopedics ; Forecasting ; Hospitals
Language	English
Publishing date	2023-10-16
Publishing country	Wales
Document type	Journal Article
ISSN	2399-4908
ISSN (online)	2399-4908
DOI	10.23889/ijpds.v8i1.2123
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Article ; Online: Discovering Associations Between Acoustic Emission and Magnetic Resonance Imaging Biomarkers From 10 Osteoarthritic Knees.

Shark, Lik-Kwan / Quan, Wei / Bowes, Michael A / Waterton, John C / Goodacre, John

IEEE transactions on bio-medical engineering

2022 Volume 69, Issue 11, Page(s) 3494–3503

Abstract: Objective: Acoustic emission (AE) sensed from knee joints during weight-bearing movements greatly increases with joint deterioration, but the relationship between AE patterns and specific anatomical damage, as seen for example in magnetic resonance ... ...

Abstract	Objective: Acoustic emission (AE) sensed from knee joints during weight-bearing movements greatly increases with joint deterioration, but the relationship between AE patterns and specific anatomical damage, as seen for example in magnetic resonance imaging (MRI), is unknown. This knowledge is essential to validate AE biomarkers for the evaluation of knee joints, and forms the objective of this exploratory work to associate knee AE and MRI. Methods: A novel processing framework is proposed to enable direct correlation between static 3D MRI of knees and their dynamic 1D AE during sit-stand-sit movements. It comprises a method to estimate articular cartilage thickness according to joint angle from knee MRI, and a method to derive statistically representative waveform features according to joint angle from movement and load-dependent knee AE. Results: In 10 subjects diagnosed with knee osteoarthritis, age 55∼79 years and body mass index 25∼35 kg/m Conclusion: AE provides promising quantitative biomarkers in knee joint disease. Significance: These findings provide impetus for the further development of AE as a low-cost non-invasive biomarker modality to improve the management of knee joint disease.
MeSH term(s)	Humans ; Aged ; Knee Joint/diagnostic imaging ; Osteoarthritis, Knee/diagnostic imaging ; Cartilage, Articular/diagnostic imaging ; Cartilage, Articular/pathology ; Magnetic Resonance Imaging/methods ; Acoustics ; Biomarkers
Chemical Substances	Biomarkers
Language	English
Publishing date	2022-10-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	160429-6
ISSN	1558-2531 ; 0018-9294
ISSN (online)	1558-2531
ISSN	0018-9294
DOI	10.1109/TBME.2022.3171493
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Zs.A 425: Show issues

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Article ; Online: Validation of lung cancer polygenic risk scores in a high-risk case-control cohort.

Lebrett, Mikey B / Smith, Miriam J / Crosbie, Emma J / Bowes, John / Byers, Helen J / Evans, D Gareth / Crosbie, Philip A J

Genetics in medicine : official journal of the American College of Medical Genetics

2023 Volume 25, Issue 8, Page(s) 100882

Abstract: Purpose: Screening with low-dose computed tomography reduces lung cancer (LC) mortality. Risk prediction models used for screening selection do not include genetic variables. Here, we investigated the performance of previously published polygenic risk ... ...

Abstract	Purpose: Screening with low-dose computed tomography reduces lung cancer (LC) mortality. Risk prediction models used for screening selection do not include genetic variables. Here, we investigated the performance of previously published polygenic risk scores (PRSs) for LC, considering their potential to improve screening selection. Methods: We validated 9 PRSs in a high-risk case-control cohort, comprising genotype data from 652 surgical patients with LC and 550 cancer-free, high-risk (PLCO Results: Median age was 67 years, 53% were female, 46% were current smokers, and 76% were National Lung Screening Trial eligible. Median PLCO Conclusion: PRSs may improve LC risk prediction and screening selection. Further research, particularly examining clinical utility and cost-effectiveness, is required.
MeSH term(s)	Humans ; Female ; Aged ; Male ; Risk Assessment/methods ; Risk Factors ; Lung Neoplasms/diagnosis ; Lung Neoplasms/genetics ; Genotype ; Case-Control Studies
Language	English
Publishing date	2023-05-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2023.100882
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Zs.A 5059: Show issues

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Article ; Online: HLA-DRB1 haplotypes predict cardiovascular mortality in inflammatory polyarthritis independent of CRP and anti-CCP status.

Sharma, Seema / Plant, Darren / Bowes, John / Macgregor, Alex / Verstappen, Suzanne / Barton, Anne / Viatte, Sebastien

Arthritis research & therapy

2022 Volume 24, Issue 1, Page(s) 90

Abstract: Background: Haplotypes defined by amino acids at HLA-DRB1 positions 11, 71 and 74 associated with susceptibility to rheumatoid arthritis (RA) are associated with radiological outcome, anti-TNF response and all cause-mortality in RA. RA is associated ... ...

Abstract	Background: Haplotypes defined by amino acids at HLA-DRB1 positions 11, 71 and 74 associated with susceptibility to rheumatoid arthritis (RA) are associated with radiological outcome, anti-TNF response and all cause-mortality in RA. RA is associated with cardiovascular (CV) morbidity and mortality, but the increased prevalence of risk factors of CV disease in RA only partially explains this association. The aim of this study was to investigate whether amino acids at positions 11, 71 and 74 of HLA-DRB1 are associated with cardiovascular (CV) mortality in inflammatory polyarthritis (IP). Methods: The Norfolk Arthritis Register (NOAR) is an incidence register of IP: recruitment 1990-2007, final follow-up 2011. Two thousand five hundred fourteen patients had available genetic and mortality data. Amino acids at positions 11, 71 and 74 of HLA-DRB1 were determined. Univariate Cox proportional hazard models were applied to assess the association of genetic markers and both all-cause mortality and cardiovascular mortality. Results: Among 2514 participants, 643 (25.6%) died during the study, and 343 (53.3%) of these deaths were attributed to CV causes. One thousand six hundred fifty (65.6%) participants were female, 709 (32.3%) were anti-CCP-positive and the median age of participants was 54. HLA-DRB1 haplotypes associated with susceptibility to rheumatoid arthritis (RA) consistently show the same magnitude and direction of association for overall and CV mortality in IP. For example, the SEA-haplotype, associated with the lowest susceptibility to RA, and the best radiographic outcome, was found to be associated with decreased CV mortality (HR 0.67, 95% CI 0.47, 0.91, p=0.023). Mediation analysis revealed associations were independent of anti-CCP status. Conclusions: HLA-DRB1 haplotypes associated with susceptibility to RA also predispose to increased risk of CV mortality in IP, independent of known CV risk factors. Associations were independent of anti-CCP status, which suggests in the future, genetic factors will add to the prediction of risk of cardiovascular mortality beyond serological markers.
MeSH term(s)	Alleles ; Amino Acids ; Anti-Citrullinated Protein Antibodies ; Arthritis, Rheumatoid ; Cardiovascular Diseases/genetics ; Disease Progression ; Female ; Genotype ; HLA-DRB1 Chains/genetics ; Haplotypes ; Humans ; Male ; Tumor Necrosis Factor Inhibitors
Chemical Substances	Amino Acids ; Anti-Citrullinated Protein Antibodies ; HLA-DRB1 Chains ; Tumor Necrosis Factor Inhibitors
Language	English
Publishing date	2022-04-25
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2107602-9
ISSN	1478-6362 ; 1478-6354
ISSN (online)	1478-6362
ISSN	1478-6354
DOI	10.1186/s13075-022-02775-0
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Zs.A 5490: Show issues

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