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Article ; Online: Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

Whiley, Phillip J / Parsons, Michael T / Leary, Jennifer / Tucker, Kathy / Warwick, Linda / Dopita, Belinda / Thorne, Heather / Lakhani, Sunil R / Goldgar, David E / Brown, Melissa A / Spurdle, Amanda B

PloS one

2014 Volume 9, Issue 1, Page(s) e86836

Abstract: ... in aberrant mRNA transcripts predicted to encode truncated proteins. The BRCA1:c.122A>G(p.His41Arg) RING ... were considered to be pathogenic (Class 5). BRCA1:c.4484G> C(p.Arg1495Thr) was shown to result ...

Abstract	Rare exonic, non-truncating variants in known cancer susceptibility genes such as BRCA1 and BRCA2 are problematic for genetic counseling and clinical management of relevant families. This study used multifactorial likelihood analysis and/or bioinformatically-directed mRNA assays to assess pathogenicity of 19 BRCA1 or BRCA2 variants identified following patient referral to clinical genetic services. Two variants were considered to be pathogenic (Class 5). BRCA1:c.4484G> C(p.Arg1495Thr) was shown to result in aberrant mRNA transcripts predicted to encode truncated proteins. The BRCA1:c.122A>G(p.His41Arg) RING-domain variant was found from multifactorial likelihood analysis to have a posterior probability of pathogenicity of 0.995, a result consistent with existing protein functional assay data indicating lost BARD1 binding and ubiquitin ligase activity. Of the remaining variants, seven were determined to be not clinically significant (Class 1), nine were likely not pathogenic (Class 2), and one was uncertain (Class 3).These results have implications for genetic counseling and medical management of families carrying these specific variants. They also provide additional multifactorial likelihood variant classifications as reference to evaluate the sensitivity and specificity of bioinformatic prediction tools and/or functional assay data in future studies.
MeSH term(s)	Alternative Splicing/genetics ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Computational Biology ; Exons/genetics ; Genetic Predisposition to Disease ; Humans ; Likelihood Functions ; Multifactorial Inheritance/genetics ; Mutation, Missense/genetics ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Reproducibility of Results ; Sequence Deletion/genetics
Chemical Substances	BRCA1 Protein ; BRCA2 Protein ; RNA, Messenger
Language	English
Publishing date	2014-01-28
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0086836
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Article ; Online: Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

Phillip J Whiley / Michael T Parsons / Jennifer Leary / Kathy Tucker / Linda Warwick / Belinda Dopita / Heather Thorne / Sunil R Lakhani / David E Goldgar / Melissa A Brown / Amanda B Spurdle

PLoS ONE, Vol 9, Iss 1, p e

2014 Volume 86836

Abstract	Rare exonic, non-truncating variants in known cancer susceptibility genes such as BRCA1 and BRCA2 are problematic for genetic counseling and clinical management of relevant families. This study used multifactorial likelihood analysis and/or bioinformatically-directed mRNA assays to assess pathogenicity of 19 BRCA1 or BRCA2 variants identified following patient referral to clinical genetic services. Two variants were considered to be pathogenic (Class 5). BRCA1:c.4484G> C(p.Arg1495Thr) was shown to result in aberrant mRNA transcripts predicted to encode truncated proteins. The BRCA1:c.122A>G(p.His41Arg) RING-domain variant was found from multifactorial likelihood analysis to have a posterior probability of pathogenicity of 0.995, a result consistent with existing protein functional assay data indicating lost BARD1 binding and ubiquitin ligase activity. Of the remaining variants, seven were determined to be not clinically significant (Class 1), nine were likely not pathogenic (Class 2), and one was uncertain (Class 3).These results have implications for genetic counseling and medical management of families carrying these specific variants. They also provide additional multifactorial likelihood variant classifications as reference to evaluate the sensitivity and specificity of bioinformatic prediction tools and/or functional assay data in future studies.
Keywords	Medicine ; R ; Science ; Q
Subject code	572
Language	English
Publishing date	2014-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
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Article: RNA-DNA triplexes: molecular mechanisms and functional relevance.

Leisegang, Matthias S / Warwick, Timothy / Stötzel, Julia / Brandes, Ralf P

Trends in biochemical sciences

2024

Abstract: ... considerable attention. Among RNA-DNA interactions are R-loops and RNA-DNA hybrid G-quadruplexes, as well ...

Abstract	Interactions of RNA with DNA are principles of gene expression control that have recently gained considerable attention. Among RNA-DNA interactions are R-loops and RNA-DNA hybrid G-quadruplexes, as well as RNA-DNA triplexes. It is proposed that RNA-DNA triplexes guide RNA-associated regulatory proteins to specific genomic locations, influencing transcription and epigenetic decision making. Although triplex formation initially was considered solely an in vitro event, recent progress in computational, biochemical, and biophysical methods support in vivo functionality with relevance for gene expression control. Here, we review the central methodology and biology of triplexes, outline paradigms required for triplex function, and provide examples of physiologically important triplex-forming long non-coding RNAs.
Language	English
Publishing date	2024-04-05
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	194216-5
ISSN	1362-4326 ; 0968-0004 ; 0376-5067
ISSN (online)	1362-4326
ISSN	0968-0004 ; 0376-5067
DOI	10.1016/j.tibs.2024.03.009
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Article ; Online: Metaraminol-induced coronary vasospasm masquerading as ST-elevation myocardial infarction during general anaesthesia.

Kovoor, Joshua G / Gorman, Daniel / Warwick, Neil / Sivagangabalan, Gopal / Kovoor, Pramesh

British journal of anaesthesia

2024 Volume 132, Issue 5, Page(s) 998–1000

MeSH term(s)	Humans ; Metaraminol ; Coronary Vasospasm/chemically induced ; Coronary Vasospasm/diagnosis ; ST Elevation Myocardial Infarction/diagnosis ; Myocardial Infarction ; Electrocardiography ; Anesthesia, General/adverse effects ; Coronary Angiography ; Percutaneous Coronary Intervention
Chemical Substances	Metaraminol (818U2PZ2EH)
Language	English
Publishing date	2024-03-23
Publishing country	England
Document type	Letter
ZDB-ID	80074-0
ISSN	1471-6771 ; 0007-0912
ISSN (online)	1471-6771
ISSN	0007-0912
DOI	10.1016/j.bja.2024.01.045
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Article: Estimating the average distribution of Antarctic krill

Warwick-Evans, V / Fielding, S / Reiss, C S / Watters, G M / Trathan, P N

Polar biology

2022 Volume 45, Issue 5, Page(s) 857–871

Abstract: This study was performed to aid the management of the fishery for Antarctic krill : Supplementary information: The online version contains supplementary material available at 10.1007/s00300-022-03039-y. ...

Abstract	This study was performed to aid the management of the fishery for Antarctic krill Supplementary information: The online version contains supplementary material available at 10.1007/s00300-022-03039-y.
Language	English
Publishing date	2022-04-15
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1478942-5
ISSN	1432-2056 ; 0722-4060
ISSN (online)	1432-2056
ISSN	0722-4060
DOI	10.1007/s00300-022-03039-y
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Article ; Online: Ethnicity, socio-economic deprivation and postpartum outcomes following caesarean delivery: a multicentre cohort study.

O'Carroll, J E / Zucco, L / Warwick, E / Radcliffe, G / Moonesinghe, S R / El-Boghdadly, K / Guo, N / Carvalho, B / Sultan, P

Anaesthesia

2024 Volume 79, Issue 5, Page(s) 486–497

Abstract: Disparities relating to postpartum recovery outcomes in different socio-economic and racial ethnic groups are underexplored. We conducted a planned analysis of a large prospective caesarean delivery cohort to explore the relationship between ethnicity, ... ...

Abstract	Disparities relating to postpartum recovery outcomes in different socio-economic and racial ethnic groups are underexplored. We conducted a planned analysis of a large prospective caesarean delivery cohort to explore the relationship between ethnicity, socio-economic status and postpartum recovery. Eligible patients were enrolled and baseline demographic, obstetric and medical history data were collected 18 h and 30 h following delivery. Patients completed postpartum quality of life and recovery measures in person on day 1 (EuroQoL EQ-5D-5L, including global health visual analogue scale; Obstetric Quality of Recovery-10 item score; and pain scores) and by telephone between day 28 and day 32 postpartum (EQ-5D-5L and pain scores). Socio-economic group was determined according to the Index of Multiple Deprivation quintile of each patient's usual place of residence. Data from 1000 patients who underwent caesarean delivery were included. There were more patients of Asian, Black and mixed ethnicity in the more deprived quintiles. Patients of White ethnicities had shorter postpartum duration of hospital stay compared with patients of Asian and Black ethnicities (35 (28-56 [18-513]) h vs. 44 (31-71 [19-465]) h vs. 49 (33-75 [23-189]) h, respectively. In adjusted models at day 30, patients of Asian ethnicity had a significantly greater risk of moderate to severe pain (numerical rating scale ≥ 4) at rest and on movement (odds ratio (95%CI) 2.42 (1.24-4.74) and 2.32 (1.40-3.87)), respectively). There were no differences in readmission rates or incidence of complications between groups. Patients from White ethnic backgrounds experience shorter postpartum duration of stay compared with patients from Asian and Black ethnic groups. Ethnic background impacts pain scores and recovery at day 1 postpartum and following hospital discharge, even after adjusting for socio-economic group. Further work is required to understand the underlying factors driving differences in pain and recovery and to develop strategies to reduce disparities in obstetric patients.
MeSH term(s)	Pregnancy ; Female ; Humans ; Ethnicity ; Quality of Life ; Prospective Studies ; Cesarean Section ; Postpartum Period ; Poverty ; Pain
Language	English
Publishing date	2024-02-15
Publishing country	England
Document type	Multicenter Study ; Journal Article
ZDB-ID	80033-8
ISSN	1365-2044 ; 0003-2409
ISSN (online)	1365-2044
ISSN	0003-2409
DOI	10.1111/anae.16241
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Article ; Online: Smoking, Corneal Biomechanics, and Glaucoma: Results From Two Large Population-Based Cohorts.

Stuart, Kelsey V / Madjedi, Kian M / Luben, Robert N / Biradar, Mahantesh I / Wagner, Siegfried K / Warwick, Alasdair N / Sun, Zihan / Hysi, Pirro G / Simcoe, Mark J / Foster, Paul J / Khawaja, Anthony P

Investigative ophthalmology & visual science

2024 Volume 65, Issue 1, Page(s) 11

Abstract: ... had a higher CH (UKB, +0.48 mm Hg; CLSA, +0.57 mm Hg; P < 0.001) and corneal resistance factor (UKB ... 0.47 mm Hg; CLSA, +0.60 mm Hg; P < 0.001) with evidence of a dose-response effect in both studies ... Differential associations with Goldmann-correlated IOP (UKB, +0.25 mm Hg; CLSA, +0.36 mm Hg; P < 0.001) and ...

Abstract	Purpose: Smoking may influence measured IOP through an effect on corneal biomechanics, but it is unclear whether this factor translates into an increased risk for glaucoma. This study aimed to examine the association of cigarette smoking with corneal biomechanical properties and glaucoma-related traits, and to probe potential causal effects using Mendelian randomization (MR). Methods: Cross-sectional analyses within the UK Biobank (UKB) and Canadian Longitudinal Study on Aging (CLSA) cohorts. Multivariable linear and logistic regression models were used to assess associations of smoking (status, intensity, and duration) with corneal hysteresis (CH), corneal resistance factor, IOP, inner retinal thicknesses, and glaucoma. Two-sample MR analyses were performed. Results: Overall, 68,738 UKB (mean age, 56.7 years; 54.7% women) and 22 845 CLSA (mean age, 62.7 years; 49.1% women) participants were included. Compared with nonsmokers, smokers had a higher CH (UKB, +0.48 mm Hg; CLSA, +0.57 mm Hg; P < 0.001) and corneal resistance factor (UKB, +0.47 mm Hg; CLSA, +0.60 mm Hg; P < 0.001) with evidence of a dose-response effect in both studies. Differential associations with Goldmann-correlated IOP (UKB, +0.25 mm Hg; CLSA, +0.36 mm Hg; P < 0.001) and corneal-compensated IOP (UKB, -0.28 mm Hg; CLSA, -0.32 mm Hg; P ≤ 0.001) were observed. Smoking was not associated with inner retinal thicknesses or glaucoma status in either study. MR provided evidence for a causal effect of smoking on corneal biomechanics, especially higher CH. Conclusions: Cigarette smoking seems to increase corneal biomechanical resistance to deformation, but there was little evidence to support a relationship with glaucoma. This outcome may result in an artefactual association with measured IOP and could account for discordant results with glaucoma in previous epidemiological studies.
MeSH term(s)	Female ; Humans ; Male ; Middle Aged ; Biomechanical Phenomena ; Canada/epidemiology ; Cornea/physiology ; Cross-Sectional Studies ; Glaucoma/epidemiology ; Glaucoma/etiology ; Glaucoma, Open-Angle ; Intraocular Pressure ; Longitudinal Studies ; Prospective Studies ; Smoking/adverse effects ; Tonometry, Ocular ; Mendelian Randomization Analysis
Language	English
Publishing date	2024-01-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	391794-0
ISSN	1552-5783 ; 0146-0404
ISSN (online)	1552-5783
ISSN	0146-0404
DOI	10.1167/iovs.65.1.11
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Article ; Online: Effect of Antibiotic Spacer Dosing on Treatment Success in Two-Stage Exchange for Periprosthetic Joint Infection.

Warwick, Hunter S / Tan, Timothy L / Rangwalla, Khuzaima / Shau, David N / Barry, Jeffrey J / Hansen, Erik N

Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews

2024 Volume 8, Issue 2

Abstract: ... on using >3.6 g of total antibiotic, including ≥2.0 g of vancomycin, per 40 g of cement ... for PJI from 2004 to 2020 with at least 1-year follow-up. Patients were separated into high (>3.6 g ... of total antibiotic per 40 g of cement) and low-dose spacer groups. Primary outcomes were overall and ...

Abstract	Introduction: In two-stage exchange for periprosthetic joint infection (PJI), adding antibiotics to cement spacers is the standard of care; however, little is known about optimal dosage. There is emphasis on using >3.6 g of total antibiotic, including ≥2.0 g of vancomycin, per 40 g of cement, but these recommendations lack clinical evidence. We examined whether recommended antibiotic spacer doses affect treatment success. Methods: This was a retrospective review of 202 patients who underwent two-stage exchange for PJI from 2004 to 2020 with at least 1-year follow-up. Patients were separated into high (>3.6 g of total antibiotic per 40 g of cement) and low-dose spacer groups. Primary outcomes were overall and infectious failure. Results: High-dose spacers were used in 80% (162/202) of patients. High-dose spacers had a reduced risk of overall (OR, 0.37; P = 0.024) and infectious (OR, 0.35; P = 0.020) failure for infected primary arthroplasties, but not revisions. In multivariate analysis, vancomycin dose ≥2.0 g decreased the risk of infectious failure (OR, 0.31; P = 0.016), although not overall failure (OR, 0.51; P = 0.147). Conclusion: During two-stage exchange for PJI, spacers with greater than 3.6 g of total antibiotic may reduce overall and infectious failure for infected primary arthroplasties. Furthermore, using at least 2.0 g of vancomycin could independently decrease the risk of infectious failure.
MeSH term(s)	Humans ; Anti-Bacterial Agents/therapeutic use ; Vancomycin/therapeutic use ; Prosthesis-Related Infections/drug therapy ; Bone Cements/therapeutic use ; Treatment Outcome ; Arthritis, Infectious/chemically induced ; Arthritis, Infectious/drug therapy
Chemical Substances	Anti-Bacterial Agents ; Vancomycin (6Q205EH1VU) ; Bone Cements
Language	English
Publishing date	2024-02-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2898328-2
ISSN	2474-7661 ; 1067-151X
ISSN (online)	2474-7661
ISSN	1067-151X
DOI	e23.00103
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Article: Case Presentation: Functional Assessment of a

Ward, Bryan K / Loffell, Kirsten A / Walsh, John P / Howe, Warwick D / Brown, Suzanne J / Wilson, Scott G

Case reports in endocrinology

2024 Volume 2024, Page(s) 6652801

Abstract: Background: Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH) are common causes of hypercalcaemia. Patients are mostly asymptomatic in the case of FHH and often so in the case of PHPT. In addition, biochemical parameters ...

Abstract	Background: Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH) are common causes of hypercalcaemia. Patients are mostly asymptomatic in the case of FHH and often so in the case of PHPT. In addition, biochemical parameters show considerable overlap, making differential diagnosis difficult. Genetic screening for inactivating variants in the calcium-sensing receptor ( Conclusion: This study shows the importance of examining patient's family history in providing clues to the diagnosis in isolated cases of hypercalcaemia. In this case, history of a sister's unsuccessful parathyroidectomy prompted genetic screening in a patient who might otherwise have undergone inappropriate parathyroid surgery. Screening detected an inactivating
Language	English
Publishing date	2024-02-03
Publishing country	United States
Document type	Case Reports
ZDB-ID	2627633-1
ISSN	2090-651X ; 2090-6501
ISSN (online)	2090-651X
ISSN	2090-6501
DOI	10.1155/2024/6652801
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Article ; Online: Effect of pre-operative oral paracetamol on gastric residual volume and pH in young children in the context of a 1-hour clear fluid fast: a randomised controlled trial.

Saffer, E / Nielsen, D P D / Warwick, E / Stilwell, A / Webb, C / Chow, G / Place, M-K

Anaesthesia

2022 Volume 77, Issue 4, Page(s) 449–455

Abstract: High gastric residual volume and low pH are associated with increased mortality following pulmonary aspiration in animal studies. The use of pre-operative oral paracetamol has not been investigated in younger children and infants in the context of a ... ...

Abstract	High gastric residual volume and low pH are associated with increased mortality following pulmonary aspiration in animal studies. The use of pre-operative oral paracetamol has not been investigated in younger children and infants in the context of a prescriptive 1-h clear fluid fast aimed at reducing the risk of pulmonary aspiration while improving patient experience. Children aged 1 month up to a weight of 25 kg and scheduled for elective surgery were randomly allocated to receive a prescribed 3.6 ml.kg
MeSH term(s)	Acetaminophen ; Child, Preschool ; Fasting ; Humans ; Hydrogen-Ion Concentration ; Residual Volume ; Water
Chemical Substances	Water (059QF0KO0R) ; Acetaminophen (362O9ITL9D)
Language	English
Publishing date	2022-02-15
Publishing country	England
Document type	Journal Article ; Randomized Controlled Trial
ZDB-ID	80033-8
ISSN	1365-2044 ; 0003-2409
ISSN (online)	1365-2044
ISSN	0003-2409
DOI	10.1111/anae.15670
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