Full Text Journal Articles by
Author Claire L Shovlin

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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Claire L Shovlin, Ilenia Simeoni, Kate Downes, Zoe C Frazer, Karyn Megy, Maria E Bernabeu-Herrero, Abigail Shurr, Jennifer Brimley, Dilipkumar Patel, Loren Kell, Jonathan Stephens, Isobel G Turbin, Micheala A Aldred, Christopher J Penkett, Willem H Ouwehand, Luca Jovine, Ernest Turro,

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Care delivery for HHT patients is impeded by the need for laborious, repeated phenotyping and gaps in knowledge regarding the relationships between causal DNA variants in ENG, ACVRL1, SMAD4 and GDF2, and clinical manifestations. To address this, we analyzed DNA ... Read more >>

Blood (Blood)
[2020, 136(17):1907-1918]

Cited: 0 times

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Development and implementation of a COVID-19 near real-time traffic light system in an acute hospital setting.

Marcela P Vizcaychipi, Claire L Shovlin, Alex McCarthy, Alice Howard, Alexander Brown, Michelle Hayes, Suveer Singh, Linsey Christie, Alice Sisson, Roger Davies, Christopher Lockie, Monica Popescu, Amandeep Gupta, James Armstrong, Hisham Said, Timothy Peters, Richard T Keays, ,

Common causes of death in COVID-19 due to SARS-CoV-2 include thromboembolic disease, cytokine storm and adult respiratory distress syndrome (ARDS). Our aim was to develop a system for early detection of disease pattern in the emergency department (ED) that would enhance opportunities for personalised accelerated care to prevent disease progression. ... Read more >>

Emerg Med J (Emergency medicine journal : EMJ)
[2020, 37(10):630-636]

Cited: 1 time

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Increase in COVID-19 inpatient survival following detection of Thromboembolic and Cytokine storm risk from the point of admission to hospital by a near real time Traffic-light System (TraCe-Tic).

Marcela P Vizcaychipi, Claire L Shovlin, Alex McCarthy, Andrew Godfrey, Sheena Patel, Pallav L Shah, Michelle Hayes, Richard T Keays, Iain Beveridge, Gary Davies, ,

<h4>Introduction</h4>Our goal was to evaluate if traffic-light driven personalized care for COVID-19 was associated with improved survival in acute hospital settings.<h4>Methods</h4>Discharge outcomes were evaluated before and after prospective implementation of a real-time dashboard with feedback to ward-based clinicians. Thromboembolism categories were "medium-risk" (D-dimer >1000ng/mL or CRP >200mg/L); "high-risk" (D-dimer >3000ng/mL ... Read more >>

Braz J Infect Dis (The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious Diseases)
[2020, 24(5):412-421]

Cited: 1 time

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Vascular inflammation and endothelial injury in SARS-CoV-2 infection: The overlooked regulatory cascades implicated by the ACE2 gene cluster.

Claire L Shovlin, Marcela P Vizcaychipi,

COVID-19 has presented physicians with an unprecedented number of challenges and mortality. The basic question is why, in contrast to other "respiratory" viruses, 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 ... Read more >>

QJM (QJM : monthly journal of the Association of Physicians)
[2020, :]

Cited: 2 times

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European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT).

Omer F Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D Kjeldsen, David Lefroy, Gennaro M Lenato, Hans Jurgen Mager, Guido Manfredi, Troels H Nielsen, Fabio Pagella, Marco C Post, Catherine Rennie, Carlo SabbĂ , Patrizia Suppressa, Pernille M Toerring, Sara Ugolini, Elisabetta Buscarini, Sophie Dupuis-Girod, Claire L Shovlin,

Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion being cerebral arteriovenous malformations (AVMs) and fistulae that may lead to potentially devastating consequences in case of rupture. On the other hand, detection and ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):165]

Cited: 3 times

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Early detection of severe COVID-19 disease patterns define near real-time personalised care, bioseverity in males, and decelerating mortality rates

Marcela Vizcaychipi, Claire Shovlin, Michelle Hayes, Suveer Singh, Linsey Christie, Alice Sisson, Roger Davies, Christopher Lockie, Alice Howard, Alexander Brown, Alex McCarthy, Monica Popescu, Amandeep Gupta, James Armstrong, Hisham Said, Timothy Peters, Richard Keays, ,

<h4>ABSTRACT</h4> <h4>Background</h4> COVID-19 is a global health emergency. Recent data indicate a 50% mortality rate across UK intensive care units. <h4>Methods</h4> A single institution, two-centre retrospective analysis following implementation of a Decision Support tool and real-time data dashboard for early detection of patients requiring personalised enhanced care, focussing on respiratory ... Read more >>

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Implications for COVID-19 triage from the ICNARC report of 2204 COVID-19 cases managed in UK adult intensive care units.

Claire L Shovlin, Marcela P Vizcaychipi,

Emerg Med J (Emergency medicine journal : EMJ)
[2020, 37(6):332-333]

Cited: 3 times

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COVID-19 genomic susceptibility: Definition of ACE2 variants relevant to human infection with SARS-CoV-2 in the context of ACMG/AMP Guidance

Claire Shovlin, Marcela Vizcaychipi,

<h4>ABSTRACT</h4> <h4>Background</h4> Mortality remains very high and unpredictable in CoViD-19, with intense public protection strategies tailored to preceived risk. Males are at greater risk of severe CoViD-19 complications. Genomic studies are in process to identify differences in host susceptibility to SARS-CoV-2 infection. <h4>Methods</h4> Genomic structures were examined for the ACE2 ... Read more >>

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Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.

Jessica M Clarke, Mary Alikian, Sihao Xiao, Dalia Kasperaviciute, Ellen Thomas, Isobel Turbin, Kike Olupona, Elna Cifra, Emanuel Curetean, Teena Ferguson, Julian Redhead, , Claire L Shovlin,

J Med Genet (Journal of medical genetics)
[2020, 57(12):859-862]

Cited: 0 times

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Patients with in-situ metallic coils and Amplatzer vascular plugs used to treat pulmonary arteriovenous malformations since 1984 can safely undergo magnetic resonance imaging.

Ali Alsafi, James E Jackson, Gavin Fatania, Maneesh C Patel, Alan Glover, Claire L Shovlin,

OBJECTIVE:To examine the MRI safety of metallic coils and Amplatzer vascular plugs. Currently, concern regarding MR safety of devices used to treat pulmonary arteriovenous malformations (PAVMs) causes delays in performing emergency MRI in patients presenting with acute neurological symptoms. METHODS:A retrospective audit was performed on all patients who underwent PAVM ... Read more >>

Br J Radiol (The British journal of radiology)
[2019, 92(1098):20180752]

Cited: 1 time

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Veterans Specific Activity Questionnaire (VSAQ): a new and efficient method of assessing exercise capacity in patients with pulmonary arteriovenous malformations.

Filip Gawecki, Jonathan Myers, Claire L Shovlin,

<h4>Introduction</h4>Assessment of performance status is an important component of clinical management of patients with pulmonary arteriovenous malformations (PAVMs). Usual methods are time-consuming and insensitive to variations within normal or supranormal exercise capacity.<h4>Methods</h4>The Veterans Specific Activity Questionnaire (VSAQ) was modified to facilitate completion by patients independently. Patient-reported activity limitations were converted ... Read more >>

BMJ Open Respir Res (BMJ open respiratory research)
[2019, 6(1):e000351]

Cited: 1 time

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Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia.

Elisabetta Buscarini, Luisa Maria Botella, Urban Geisthoff, Anette D Kjeldsen, Hans Jurgen Mager, Fabio Pagella, Patrizia Suppressa, Roberto Zarrabeitia, Sophie Dupuis-Girod, Claire L Shovlin, ,

BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular dysplasia that leads to nosebleeds and visceral arteriovenous malformations (AVMs). Anti-angiogenic drugs thalidomide and bevacizumab have been increasingly used off-label with variable results. The HHT working group within the ERN for Rare Multisystemic Vascular Diseases (VASCERN), developed a questionnaire-based retrospective capture ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):28]

Cited: 10 times

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Low serum haptoglobin and blood films suggest intravascular hemolysis contributes to severe anemia in hereditary hemorrhagic telangiectasia.

Lieze Thielemans, D Mark Layton, Claire L Shovlin,

Haematologica (Haematologica)
[2019, 104(4):e127-e130]

Cited: 3 times

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Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia.

Gavin Fatania, Clare Gilson, Alan Glover, Ali Alsafi, James E Jackson, Maneesh C Patel, Claire L Shovlin,

Hereditary haemorrhagic telangiectasia (HHT) results in arteriovenous malformations (AVMs), most commonly in the lungs, liver and brain. Discussion of cerebral vascular malformations is an important element of patient management. The current study objectives were to examine uptake and results of screening cerebral magnetic resonance (MR) scans, excluding symptomatic patients requiring ... Read more >>

Intractable Rare Dis Res (Intractable & rare diseases research)
[2018, 7(4):236-244]

Cited: 2 times

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European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT).

Claire L Shovlin, Elisabetta Buscarini, Anette D Kjeldsen, Hans Jurgen Mager, Carlo Sabba, Freya Droege, Urban Geisthoff, Sara Ugolini, Sophie Dupuis-Girod,

Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver and brain. HHT is estimated to affect 85,000 European citizens, but most health care providers have limited prior HHT exposure or ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2018, 13(1):136]

Cited: 26 times

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Acquired Transpleural Systemic Artery-to-Pulmonary Artery Communication Mimicking a Pulmonary Arteriovenous Malformation and Causing a False-Positive Diagnosis of a Pulmonary Embolus.

Ali Alsafi, Claire L Shovlin, James E Jackson,

J Vasc Interv Radiol (Journal of vascular and interventional radiology : JVIR)
[2018, 29(9):1313-1315]

Cited: 0 times

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Executive summary of the 12th HHT international scientific conference.

Jillian W Andrejecsk, Anna E Hosman, Luisa M Botella, Claire L Shovlin, Helen M Arthur, Sophie Dupuis-Girod, Elisabetta Buscarini, Christopher C W Hughes, Franck Lebrin, Christine L Mummery, Marco C Post, Johannes J Mager,

Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to ... Read more >>

Angiogenesis (Angiogenesis)
[2018, 21(1):169-181]

Cited: 4 times

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Pulmonary arteriovenous malformations emerge from the shadows.

Claire L Shovlin, Robin Condliffe, James W Donaldson, David G Kiely, Stephen J Wort,

Thorax (Thorax)
[2017, 72(12):1071-1073]

Cited: 0 times

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British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations.

Claire L Shovlin, Robin Condliffe, James W Donaldson, David G Kiely, Stephen J Wort, ,

Pulmonary arteriovenous malformations (PAVMs) are structurally abnormal vascular communications that provide a continuous right-to-left shunt between pulmonary arteries and veins. Their importance stems from the risks they pose (>1 in 4 patients will have a paradoxical embolic stroke, abscess or myocardial infarction while life-threatening haemorrhage affects 1 in 100 women ... Read more >>

Thorax (Thorax)
[2017, 72(12):1154-1163]

Cited: 28 times

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Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts.

Claire L Shovlin, Elisabetta Buscarini, J Michael B Hughes, David J Allison, James E Jackson,

<h4>Introduction</h4>Pulmonary arteriovenous malformations (PAVMs) may not be amenable to treatment by embolisation or surgical resection, and many patients are left with significant hypoxaemia. Lung transplantation has been undertaken. There is no guidance on selection criteria.<h4>Methods</h4>To guide transplantation listing assessments, the outcomes of the six patients who had been considered for ... Read more >>

BMJ Open Respir Res (BMJ open respiratory research)
[2017, 4(1):e000198]

Cited: 6 times

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Cerebral Abscess Associated With Odontogenic Bacteremias, Hypoxemia, and Iron Loading in Immunocompetent Patients With Right-to-Left Shunting Through Pulmonary Arteriovenous Malformations.

Emily J Boother, Sheila Brownlow, Hannah C Tighe, Kathleen B Bamford, James E Jackson, Claire L Shovlin,

<h4>Background</h4>Cerebral abscess is a recognized complication of pulmonary arteriovenous malformations (PAVMs) that allow systemic venous blood to bypass the pulmonary capillary bed through anatomic right-to-left shunts. Broader implications and mechanisms remain poorly explored.<h4>Methods</h4>Between June 2005 and December 2016, at a single institution, 445 consecutive adult patients with computed tomography-confirmed PAVMs ... Read more >>

Clin Infect Dis (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America)
[2017, 65(4):595-603]

Cited: 13 times

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Hemoglobin Is a Vital Determinant of Arterial Oxygen Content in Hypoxemic Patients with Pulmonary Arteriovenous Malformations.

Abeer Rizvi, Patricia Macedo, Lydia Babawale, Hannah C Tighe, J Michael B Hughes, James E Jackson, Claire L Shovlin,

<h4>Rationale</h4>Pa<sub>O<sub>2</sub></sub> and Sa<sub>O<sub>2</sub></sub> are commonly measured in respiratory practice, but arterial oxygen content (Ca<sub>O<sub>2</sub></sub>) refers to the volume of oxygen delivered to the tissues per unit blood volume. Ca<sub>O<sub>2</sub></sub> is calculated from Sa<sub>O<sub>2</sub></sub> and the hemoglobin concentration in blood, recognizing that each gram of hemoglobin can transport approximately 1.34 ml ... Read more >>

Ann Am Thorac Soc (Annals of the American Thoracic Society)
[2017, 14(6):903-911]

Cited: 10 times

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Pulmonary arteriovenous malformations: evidence of physician under-education.

Claire L Shovlin, James R Gossage,

<b>PAVMs pose unique management challenges; publication patterns indicate their importance remains poorly recognised</b> http://ow.ly/7iIT304WYl2. ... Read more >>

ERJ Open Res (ERJ open research)
[2017, 3(2):]

Cited: 5 times

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7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants.

Helen Finnamore, B Maneesha Silva, B Mary Hickson, Kevin Whelan, Claire L Shovlin,

Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links between HHT nosebleeds and certain food groups. In this letter, we report 7-day weighed food diary assessments of an unselected group of 25 ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2017, 12(1):60]

Cited: 2 times

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Embolisation of PAVMs reported to improve nosebleeds by a subgroup of patients with hereditary haemorrhagic telangiectasia.

Claire L Shovlin, Trishan Patel, James E Jackson,

<b>Pulmonary AVM embolisation appears to improve nosebleed severity for nearly one in six people with HHT</b> http://ow.ly/4mJqip. ... Read more >>

ERJ Open Res (ERJ open research)
[2016, 2(2):]

Cited: 2 times

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