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Article ; Online: Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasia.

Mukhtar, Ghazel / Shovlin, Claire L

EJHaem

2023 Volume 4, Issue 3, Page(s) 602–611

Abstract: ... association with age, sex, C-reactive protein, pulmonary arteriovenous malformations (AVMs), ...

Abstract	Hereditary haemorrhagic telangiectasia (HHT) can result in challenging anaemia and thrombosis phenotypes. Clinical presentations of HHT vary for relatives with identical casual mutations, suggesting other factors may modify severity. To examine objectively, we developed unsupervised machine learning algorithms to test whether haematological data at presentation could be categorised into sub-groupings and fitted to known biological factors. With ethical approval, we examined 10 complete blood count (CBC) variables, four iron index variables, four coagulation variables and eight iron/coagulation indices combined from 336 genotyped HHT patients (40% male, 60% female, 86.5% not using iron supplementation) at a single centre. T-SNE unsupervised, dimension reduction, machine learning algorithms assigned each high-dimensional datapoint to a location in a two-dimensional plane. k-Means clustering algorithms grouped into profiles, enabling visualisation and inter-profile comparisons of patients' clinical and genetic features. The unsupervised machine learning algorithms using t-SNE and k-Means identified two distinct CBC profiles, two iron profiles, four clotting profiles and three combined profiles. Validating the methodology, profiles for CBC or iron indices fitted expected patterns for haemorrhage. Distinct coagulation profiles displayed no association with age, sex, C-reactive protein, pulmonary arteriovenous malformations (AVMs),
Language	English
Publishing date	2023-07-03
Publishing country	United States
Document type	Journal Article
ISSN	2688-6146
ISSN (online)	2688-6146
DOI	10.1002/jha2.746
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Blended feeding in gastrostomy-fed children-A scoping review.

Doyle, Carmel / Louw, Julia / Shovlin, Amanda / Dowd, Laura / Kavanagh, Maria

Child: care, health and development

2024 Volume 50, Issue 1, Page(s) e13222

Abstract: Background: Blended feeding has become increasingly prevalent in recent years with its practice gaining some momentum. With anecdotal reports of benefits and little evidence of harm in the literature regarding blended feeding, this scoping review was ... ...

Abstract	Background: Blended feeding has become increasingly prevalent in recent years with its practice gaining some momentum. With anecdotal reports of benefits and little evidence of harm in the literature regarding blended feeding, this scoping review was deemed important. The aim of this scoping review was to summarise the published evidence about blended feeding in gastrostomy-fed children. Method: The scoping review methodology used included searches in specific online databases: PUBMED, PsychINFO, CINAHL, SCOPUS, AMED and EMBASE for articles that addressed issues pertaining to blended feeds in gastrostomy-fed children. Grey literature was also considered. Inclusion criteria included papers that pertained to information and research on blended feeding in gastrostomy-fed children. Studies published in English over the past 11 years (2011-2022) were included. This resulted in 59 papers being included in this scoping review. Results: Thematic analysis of the literature identified eight overall themes. It was clear that parents found blended feeding promoted the normalising of feeding, their own involvement in decision-making around foods and promotion of a socially inclusive mealtime. The need for dietician and health professional input and support is key, whereas a lack of guidelines acts as a barrier to blended feeding. Furthermore, risks associated with blended feeding are identified but also the benefits to the physical well-being of the child are considered. Conclusion: The review was comprehensive in that it identified a broad range of literature, exploring the extent, range and nature of research activity related to the use of blended feeds. The lack of original research is a concern. However, it is expected this review will provide direction for researchers, and in particular inform policy and practitioners working in the field where blended feeds may be an option for gastrostomy-fed children.
MeSH term(s)	Child ; Humans ; Gastrostomy ; Health Personnel ; Parents
Language	English
Publishing date	2024-01-24
Publishing country	England
Document type	Review ; Journal Article
ZDB-ID	223039-2
ISSN	1365-2214 ; 0305-1862
ISSN (online)	1365-2214
ISSN	0305-1862
DOI	10.1111/cch.13222
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Article ; Online: Iron deficiency responses and integrated compensations in patients according to hereditary hemorrhagic telangiectasia

Sharma, Lakshya / Almaghlouth, Fatma / Mckernan, Heidi / Springett, James / Tighe, Hannah C / Shovlin, Claire L

Haematologica

2024 Volume 109, Issue 3, Page(s) 958–962

MeSH term(s)	Humans ; Telangiectasia, Hereditary Hemorrhagic/genetics ; Smad4 Protein/genetics ; Endoglin ; Activin Receptors, Type II/genetics
Chemical Substances	SMAD4 protein, human ; Smad4 Protein ; ENG protein, human ; Endoglin ; ACVRL1 protein, human (EC 2.7.11.30) ; Activin Receptors, Type II (EC 2.7.11.30)
Language	English
Publishing date	2024-03-01
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2022.282038
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Article ; Online: Vascular inflammation and endothelial injury in SARS-CoV-2 infection: the overlooked regulatory cascades implicated by the ACE2 gene cluster.

Shovlin, C L / Vizcaychipi, M P

QJM : monthly journal of the Association of Physicians

2020 Volume 116, Issue 8, Page(s) 629–634

Abstract: Coronavirus disease 2019 (COVID-19) has presented physicians with an unprecedented number of challenges and mortality. The basic question is why, in contrast to other 'respiratory' viruses, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ... ...

Abstract	Coronavirus disease 2019 (COVID-19) has presented physicians with an unprecedented number of challenges and mortality. The basic question is why, in contrast to other 'respiratory' viruses, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can result in such multi-systemic, life-threatening complications and a severe pulmonary vasculopathy. It is widely known that SARS-CoV-2 uses membrane-bound angiotensin-converting enzyme 2 (ACE2) as a receptor, resulting in internalization of the complex by the host cell. We discuss the evidence that failure to suppress coronaviral replication within 5 days results in sustained downregulation of ACE2 protein expression and that ACE2 is under negative-feedback regulation. We then expose openly available experimental repository data that demonstrate the gene for ACE2 lies in a novel cluster of inter-regulated genes on the X chromosome including PIR encoding pirin (quercetin 2,3-dioxygenase), and VEGFD encoding the predominantly lung-expressed vascular endothelial growth factor D. The five double-elite enhancer/promoters pairs that are known to be operational, and shared read-through lncRNA transcripts, imply that ongoing SARS-CoV-2 infection will reduce host defences to reactive oxygen species, directly generate superoxide O2·- and H2O2 (a ' ROS storm'), and impair pulmonary endothelial homeostasis. Published cellular responses to oxidative stress complete the loop to pathophysiology observed in severe COVID-19. Thus, for patients who fail to rapidly suppress viral replication, the newly appreciated ACE2 co-regulated gene cluster predicts delayed responses that would account for catastrophic deteriorations. We conclude that ACE2 homeostatic drives provide a unified understanding that should help optimize therapeutic approaches during the wait until safe, effective vaccines and antiviral therapies for SARS-CoV-2 are delivered.
MeSH term(s)	Humans ; COVID-19 ; SARS-CoV-2/genetics ; Angiotensin-Converting Enzyme 2/genetics ; Vascular Endothelial Growth Factor D/genetics ; Hydrogen Peroxide ; Peptidyl-Dipeptidase A/genetics ; Peptidyl-Dipeptidase A/metabolism ; Inflammation ; Multigene Family
Chemical Substances	Angiotensin-Converting Enzyme 2 (EC 3.4.17.23) ; Vascular Endothelial Growth Factor D ; Hydrogen Peroxide (BBX060AN9V) ; Peptidyl-Dipeptidase A (EC 3.4.15.1)
Keywords	covid19
Language	English
Publishing date	2020-08-04
Publishing country	England
Document type	Journal Article
ZDB-ID	1199985-8
ISSN	1460-2393 ; 0033-5622 ; 1460-2725
ISSN (online)	1460-2393
ISSN	0033-5622 ; 1460-2725
DOI	10.1093/qjmed/hcaa241
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Article: Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia.

McCarley, Sarah C / Murphy, Daniel A / Thompson, Jack / Shovlin, Claire L

Journal of clinical medicine

2023 Volume 12, Issue 24

Abstract: Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia that commonly results in bleeding but with frequent indications for therapeutic anticoagulation. Our aims were to advance the understanding of drug-specific intolerance and evaluate if ... ...

Abstract	Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia that commonly results in bleeding but with frequent indications for therapeutic anticoagulation. Our aims were to advance the understanding of drug-specific intolerance and evaluate if there was an indication for pharmacogenomic testing. Genes encoding proteins involved in the absorption, distribution, metabolism, and excretion of warfarin, heparin, and direct oral anticoagulants (DOACs) apixaban, rivaroxaban, edoxaban, and dabigatran were identified and examined. Linkage disequilibrium with HHT genes was excluded, before variants within these genes were examined following whole genome sequencing of general and HHT populations. The 44 genes identified included 5/17 actionable pharmacogenes with guidelines. The 76,156 participants in the Genome Aggregation Database v3.1.2 had 28,446 variants, including 9668 missense substitutions and 1076 predicted loss-of-function (frameshift, nonsense, and consensus splice site) variants, i.e., approximately 1 in 7.9 individuals had a missense substitution, and 1 in 71 had a loss-of-function variant. Focusing on the 17 genes relevant to usually preferred DOACs, similar variant profiles were identified in HHT patients. With HHT patients at particular risk of haemorrhage when undergoing anticoagulant treatment, we explore how pre-emptive pharmacogenomic testing, alongside HHT gene testing, may prove beneficial in reducing the risk of bleeding and conclude that HHT patients are well placed to be at the vanguard of personalised prescribing.
Language	English
Publishing date	2023-12-15
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm12247710
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Article ; Online: Transpleural systemic artery-to-pulmonary artery communications in the absence of chronic inflammatory lung disease. A case series and review of the literature.

Alsafi, A / Shovlin, C L / Jackson, J E

Clinical radiology

2021 Volume 76, Issue 9, Page(s) 711.e9–711.e15

Abstract: Aim: To describe the causes and computed tomography (CT) and angiographic appearances of transpleural systemic artery-to-pulmonary artery shunts in patients without chronic inflammatory lung disease and determine their best management.: Materials and ... ...

Abstract	Aim: To describe the causes and computed tomography (CT) and angiographic appearances of transpleural systemic artery-to-pulmonary artery shunts in patients without chronic inflammatory lung disease and determine their best management. Materials and methods: All patients referred to a tertiary referral unit between January 2009 and January 2020 in whom a diagnosis of a systemic-to-pulmonary artery communication without underlying chronic inflammatory lung disease was subsequently made have been included in this report. Medical records and imaging findings were reviewed retrospectively. Results: Ten patients (male: female ratio = 7:3; median age 42 years [range 22-70 years]) with systemic artery-to-pulmonary artery shunts without chronic inflammatory lung disease were identified. Five were misdiagnosed as having a pulmonary arteriovenous malformation and had been referred for embolisation. In six patients, there was either a history of accidental or iatrogenic thoracic trauma or of inflammatory disease involving the pleura, and in two patients, in whom a previous medical history could not be obtained, there were CT features suggesting previous pleural inflammatory disease. Two shunts were thought to be congenital. All individuals were asymptomatic other than one with localised thoracic discomfort that dated from the time of surgery. All patients were managed conservatively and have remained well with a median follow-up of 4.5 years (range 1-11.3 years). Conclusions: Localised transpleural systemic artery-to-pulmonary artery shunts in the absence of chronic inflammatory lung disease are usually related to previous thoracic trauma/intervention or abdominal or pulmonary sepsis involving a pleural or diaphragmatic surface. Congenital shunts are rare. The present study and much of the literature supports conservative management.
MeSH term(s)	Adult ; Aged ; Arteriovenous Fistula/diagnostic imaging ; Female ; Humans ; Lung Diseases ; Male ; Middle Aged ; Pulmonary Artery/abnormalities ; Pulmonary Artery/diagnostic imaging ; Pulmonary Veins/abnormalities ; Pulmonary Veins/diagnostic imaging ; Tomography, X-Ray Computed/methods ; Young Adult
Language	English
Publishing date	2021-04-23
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	391227-9
ISSN	1365-229X ; 0009-9260
ISSN (online)	1365-229X
ISSN	0009-9260
DOI	10.1016/j.crad.2021.03.016
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Article ; Online: Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.

Shovlin, Claire L / Almaghlouth, Fatma I / Alsafi, Ali / Coote, Nicola / Rennie, Catherine / Wallace, Gillian Mf / Govani, Fatima S / Research Consortium, Genomics England

Journal of medical genetics

2024 Volume 61, Issue 2, Page(s) 182–185

MeSH term(s)	Humans ; Telangiectasia, Hereditary Hemorrhagic/diagnosis ; Telangiectasia, Hereditary Hemorrhagic/genetics ; Mutation ; Phenotype ; Whole Genome Sequencing
Language	English
Publishing date	2024-01-19
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2023-109195
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Article ; Online: COVID-19 genomic susceptibility: Definition of ACE2 variants relevant to human infection with SARS-CoV-2 in the context of ACMG/AMP Guidance

Shovlin, C. L. / Vizcaychipi, M. P.

Abstract: BACKGROUND: Mortality remains very high and unpredictable in COVID-19, with intense public protection strategies tailored to preceived risk. Genomic studies are in process to identify differences in host susceptibility to infection by the SARS-CoV-2 ... ...

Abstract	BACKGROUND: Mortality remains very high and unpredictable in COVID-19, with intense public protection strategies tailored to preceived risk. Genomic studies are in process to identify differences in host susceptibility to infection by the SARS-CoV-2 virus. Open source research publications are accessible to pre-genotyped individuals. Males are more at risk from severe COVID-19. METHODS: To facilitate development of Clinical Genetics support to the public and healthcare professionals, genomic structure and variants in 213,158 exomes/genomes were integrated for ACE2 encoding the SARS-CoV-2 receptor. ACMG/AMP-based pathogenicity criteria were applied. RESULTS: Across the 19 ACE2 exons on the X chromosome, 9 of 3596 (0.25%) nucleotides were homozygous variant in females compared to 262/3596 (7.3%) hemizygous variant in males (p< 0.0001). 90% of variants were very rare, although K26R affecting a SARS-CoV-2-interacting amino acid is present in ~1/239 people. Modelling the ''COVID-resistant '' state where pathogenic alleles would be beneficial, nine null alleles met PVS1. Thirty-seven variants met PM1 based on critical location +/-PP3 based on computational modelling. Modelling a ''COVID-susceptible '' state, 31 variants in four upstream open reading frames and 5' untranslated regions could meet PM1, and may have differential effects if aminoglycoside antibiotics were prescribed for pneumonia and sepsis. CONCLUSIONS: Males are more likely to exhibit consequences from a single variant ACE2 allele. Differential allele frequencies in COVID-19 susceptible and resistant individuals are likely to emerge before variants meet ACMG/AMP criteria for actionable results in patients. Prioritising genomic regions for functional study and ACMG/AMP-structured approaches to research-based presentation of COVID-19 susceptibility variant results are encouraged.
Keywords	covid19
Publisher	MedRxiv; WHO
Document type	Article ; Online
DOI	10.1101/2020.05.12.20098160
Database	COVID19

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Article: Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.

Jain, Kinshuk / McCarley, Sarah C / Mukhtar, Ghazel / Ferlin, Anna / Fleming, Andrew / Morris-Rosendahl, Deborah J / Shovlin, Claire L

Journal of clinical medicine

2023 Volume 13, Issue 1

Abstract: Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait, due to a single heterozygous loss-of-function variant, usually ... ...

Abstract	Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait, due to a single heterozygous loss-of-function variant, usually in
Language	English
Publishing date	2023-12-31
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm13010250
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Article ; Online: Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia

Sarah C. McCarley / Daniel A. Murphy / Jack Thompson / Claire L. Shovlin

Journal of Clinical Medicine, Vol 12, Iss 24, p

2023 Volume 7710

Abstract	Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia that commonly results in bleeding but with frequent indications for therapeutic anticoagulation. Our aims were to advance the understanding of drug-specific intolerance and evaluate if there was an indication for pharmacogenomic testing. Genes encoding proteins involved in the absorption, distribution, metabolism, and excretion of warfarin, heparin, and direct oral anticoagulants (DOACs) apixaban, rivaroxaban, edoxaban, and dabigatran were identified and examined. Linkage disequilibrium with HHT genes was excluded, before variants within these genes were examined following whole genome sequencing of general and HHT populations. The 44 genes identified included 5/17 actionable pharmacogenes with guidelines. The 76,156 participants in the Genome Aggregation Database v3.1.2 had 28,446 variants, including 9668 missense substitutions and 1076 predicted loss-of-function (frameshift, nonsense, and consensus splice site) variants, i.e., approximately 1 in 7.9 individuals had a missense substitution, and 1 in 71 had a loss-of-function variant. Focusing on the 17 genes relevant to usually preferred DOACs, similar variant profiles were identified in HHT patients. With HHT patients at particular risk of haemorrhage when undergoing anticoagulant treatment, we explore how pre-emptive pharmacogenomic testing, alongside HHT gene testing, may prove beneficial in reducing the risk of bleeding and conclude that HHT patients are well placed to be at the vanguard of personalised prescribing.
Keywords	anticoagulation ; direct oral anticoagulant ; pharmacogenomics ; loss-of-function variant ; missense variant ; genetic testing ; Medicine ; R
Subject code	610
Language	English
Publishing date	2023-12-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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