A5010134040- Vascular Anomalies and Treatments
- Tracheal and airway disorders
- Pulmonary Hypertension Research and Treatments
- Sharing Economy and Platforms
- Vascular Malformations and Hemangiomas
- Congenital Heart Disease Studies
- Esophageal and GI Pathology
- Genomics and Rare Diseases
- Vascular Malformations Diagnosis and Treatment
- Transplantation: Methods and Outcomes
- Cardiovascular and Diving-Related Complications
- COVID-19 Clinical Research Studies
- Hemostasis and retained surgical items
- Cancer-related gene regulation
- RNA modifications and cancer
- Iron Metabolism and Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Adenosine and Purinergic Signaling
- Travel-related health issues
- SARS-CoV-2 and COVID-19 Research
- COVID-19 and healthcare impacts
- Immunodeficiency and Autoimmune Disorders
- Blood Coagulation and Thrombosis Mechanisms
- Hemophilia Treatment and Research
- MicroRNA in disease regulation
Imperial College London
2016-2025
Imperial College Healthcare NHS Trust
2016-2025
NIHR Imperial Biomedical Research Centre
2015-2024
National Institute for Health Research
2023-2024
Lung Institute
2000-2024
Transnational Press London
2024
Hammersmith Hospital
2011-2023
National Health Service
2010-2023
Genomics England
2021-2022
Ronald Reagan UCLA Medical Center
2021
Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but disease more difficult to diagnosis many patients. Serious consequences may result if visceral arteriovenous malformations, particularly pulmonary circulation, are unrecognized left untreated. In spite identification two disease-causing genes (endoglin ALK-1), only clinical HHT can be provided for majority individuals....
Description: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with estimated prevalence of 1 in 5000 that characterized by the presence vascular malformations (VMs). These result chronic bleeding, acute hemorrhage, and complications from shunting through VMs. The goal Second International HHT Guidelines process was to develop evidence-based consensus guidelines for management prevention HHT-related symptoms complications. Methods: were developed using AGREE II...
<h3>Background:</h3> Brain abscesses and ischaemic strokes complicate pulmonary arteriovenous malformations (PAVMs). At risk individuals are poorly recognised. Stroke/abscess factors have not been defined. <h3>Methods:</h3> A cohort study of 323 consecutive with PAVMs (n = 219) and/or the commonly associated condition hereditary haemorrhagic telangiectasia (HHT, n 305) was performed. Most 201 HHT had no respiratory symptoms, were unaware they HHT. Anderson–Gill models assessed constant time...
is possible because of proximity to others with contagious diseases (ie, resulting from direct person-to-person transmission).
Hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5-8000 individuals. Pregnancy outcomes are rarely reported. The major reason is that most women do not have their HHT diagnosed prior to pregnancy. Using a large well-characterised series, we studied all pregnancies known occurred HHT-affected women, whether or diagnosis was at the time of Our aim estimate rates and types complications pregnancy, guide management decisions.Cohort study, with prospective, retrospective familial...
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 paradoxical embolic stroke, abscess or myocardial infarction while life-threatening haemorrhage affects 1 100 women pregnancy), opportunities for risk prevention, surprisingly high prevalence under-appreciation, thus representing...
Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular dysplasia that leads to nosebleeds and visceral arteriovenous malformations (AVMs). Anti-angiogenic drugs thalidomide bevacizumab have been increasingly used off-label with variable results. The HHT working group within the ERN for Rare Multisystemic Vascular Diseases (VASCERN), developed questionnaire-based retrospective capture of adverse events (AEs) classified using Common Terminology Criteria Adverse...
Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver brain. HHT estimated affect 85,000 European citizens, but most health care providers have limited prior exposure or training.Outcome Measures were developed implemented by Working Group of Reference Network for Rare Vascular Diseases (VASCERN), order maximise number patients receiving...
Abstract Up to 80% of rare disease patients remain undiagnosed after genomic sequencing 1 , with many probably involving pathogenic variants in yet be discovered disease–gene associations. To search for such associations, we developed a variant gene burden analytical framework Mendelian diseases, and applied it protein-coding from whole-genome 34,851 cases their family members recruited the 100,000 Genomes Project 2 . A total 141 new associations were identified, including five which...
SummaryThirty-one patients over the age of 50 years and showing a mild to moderate degree memory impairment entered 6-month double-blind, placebo controlled, parallel group design study assess effects standardized Ginkgo biloba extract (containing 24% flavonoid glycosides 6% terpenes) on cognitive function. Patients were allocated at random receive oral doses 40 mg or identical 3-times daily. Assessments made baseline after 12 24 weeks treatment using range psychometric tests. Efficacy data...
Hereditary haemorrhagic telangiectasia (HHT) displays significant variation in severity between affected individuals the same family, ranging from relatively trivial epistaxis and to gastrointestinal, cerebral pulmonary involvement. Evidence for successful therapy of HHT-related haemorrhage with oestrogens progesterones, recent case reports outlining complications pregnancy HHT, prompted us review outcome 161 pregnancies 47 women. maternal developed eleven patients, ten subgroup 23 which...
<h3>Background</h3> Elevated plasma levels of coagulation factor VIII are a strong risk for pulmonary emboli and deep venous thromboses. <h3>Objectives</h3> To identify reversible biomarkers associated with high assess potential significance in specific at-risk population. <h3>Patients/Methods</h3> 609 patients hereditary haemorrhagic telangiectasia were recruited prospectively two separate series at single centre. Associations between log-transformed measured 6 months from any known...
Hereditary haemorrhagic telangiectasia (HHT) causes chronic nasal and gastrointestinal haemorrhage. Prothrombotic agents are commonly used for severe Thrombotic risks have not been defined. In order to identify prothrombotic variables in HHT patients, assess their potential functional significance, a pilot ELISA-based study comparing plasma proteins healthy individuals with age/sex-matched non-HHT controls was validated full of 309 consecutive HHT-affected individuals. the study, factor VIII...
Pulmonary first pass filtration of particles marginally exceeding ∼7 µm (the size a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation preceding cardiac cycle to lodge safely pulmonary capillaries/arterioles. arteriovenous malformations compromise capillary bed filtration, are commonly associated with ischaemic stroke. Cohorts CT-scan evident highest contrast echocardiographic shunt grades known be at higher stroke risk. Our...