A5082645745- Vascular Anomalies and Treatments
- Tracheal and airway disorders
- Sharing Economy and Platforms
- Pulmonary Hypertension Research and Treatments
- Vascular Malformations and Hemangiomas
- Esophageal and GI Pathology
- Liver Disease and Transplantation
- Transplantation: Methods and Outcomes
- Abdominal vascular conditions and treatments
- Metabolism and Genetic Disorders
- Tuberculosis Research and Epidemiology
- Systemic Lupus Erythematosus Research
- Archaeological and Historical Studies
- Gastroesophageal reflux and treatments
- Foreign Body Medical Cases
- Hemostasis and retained surgical items
- Mediterranean and Iberian flora and fauna
- Folate and B Vitamins Research
- Phytoplasmas and Hemiptera pathogens
- Nosocomial Infections in ICU
- Clostridium difficile and Clostridium perfringens research
- Parasites and Host Interactions
- Malaria Research and Control
- Cardiac tumors and thrombi
- Diagnosis and treatment of tuberculosis
Hospital Sierrallana
2007-2020
Servicio Cántabro de Salud
2020
Universitat de Barcelona
2020
Centre for Biomedical Network Research on Rare Diseases
2008-2017
Marqués de Valdecilla University Hospital
2000-2017
Instituto de Investigación Marqués de Valdecilla
2017
Fundación Marques de Valdecilla
2013
Centro de Investigación Biomédica en Red
2013
Instituto de Investigación de Enfermedades Raras
2008
Instituto de Salud Carlos III
2008
<h3>Background</h3> HHT is an autosomal dominant disease with estimated prevalence of at least 1/5000 which can frequently be complicated by the presence clinically significant arteriovenous malformations in brain, lung, gastrointestinal tract and liver. under-diagnosed families may unaware available screening treatment, leading to unnecessary stroke life-threatening hemorrhage children adults. <h3>Objective</h3> The goal this international guidelines process was develop evidence-informed...
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...
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 originated by mutations in endoglin (HHT1) and ALK1 (HHT2) genes. The purpose of this work was to isolate characterize circulating endothelial cells from HHT patients.Pure primary cultures blood outgrowth (BOECs) were obtained 50 ml peripheral selection on collagen plates with medium.The amount HHT1-BOECs half the controls, but HHT2-BOECs are also endoglin-deficient. Since TGF-beta/ALK1 pathway activates promoter activity, these results suggest...
Summary Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is an autosomal dominant vascular disease. The clinical manifestations are epistaxis, mucocutaneous and gastrointestinal telangiectases, arteriovenous malformations. There two predominant types of HHT caused by mutations in Endoglin (ENG) activin receptor-like kinase 1 (ALK1) (ACVRL1) genes, HHT1 HHT2, respectively. No cure for has been found there a current need to find new effective drug treatments the...
There are very few studies about general quality of life parameters, standards for the description health status and comparison with population data on patients Hereditary hemorrhagic telangiectasia (HHT), a rare disease in which epistaxis is cardinal symptom. To assess Spanish HHT compare it population. Between January 1st 2005 December 31st 2013, 187 adult diagnosed who were admitted to Unit Hospital Sierrallana, completed their first visit, EuroQol 5D-3L (five dimensions three levels)...
Recurrent epistaxis is the most frequent clinical manifestation of hereditary haemorrhagic telangiectasia (HHT). Its treatment difficult. Our objective was to assess use tranexamic acid (TA), an antifibrinolytic drug, for in HHT patients and investigate vitro effects TA over endoglin ALK-1 expression activity endothelial cells. A prospective study carried out on with treated oral Unit Sierrallana Hospital (Cantabria, Spain). Primary cultures cells were measure levels at cell surface by flow...
To compare the results of transthoracic contrast echocardiography (TTCE) adding a grading scale with thoracic computed tomography (CT) in order to optimise use both techniques. 95 patients hereditary haemorrhagic telangiectasia (HHT) were examined TTCE and CT detect pulmonary arteriovenous malformations (PAVMs). According previous studies, was divided into four grade depending on degree opacification left ventricle after administration agent. Of (50.5% female; mean age 46 yrs), none normal...
Summary The β-blocker propranolol, originally designed for cardiological indications (angina, cardiac arrhythmias and high blood pressure), is nowadays, considered the most efficient drug treatment in infantile haemangiomas (IH), a vascular tumour that affects 5–10% of all infants. However, its potential therapeutic benefits other anomalies remain to be explored. In present work we have assessed impact propranolol endothelial cell cultures test if this could used disease hereditary...
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder originated by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. The first large series HHT analysis Spanish population has identified 17 unrelated families. Ten different ALK1 six ENG genes were found. Six families had a mutation gene, four representing new mutations, p.Y258fs, pV323fs, p.F279fs (c.834_837del CTTC), p.F279fsdupC. Eleven harboured ALK1;...
Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin ( ENG ) and activin A receptor type II-like 1 ACVRL1 genes are detected more than 90% of cases submitted to molecular diagnosis. Methods We used data from the RiHHTa (Computerized Registry Hemorrhagic Telangiectasia) registry describe genetic assess their genotype-phenotype correlation among HHT patients Spain. Results By May...
Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT transmitted as an autosomal dominant condition, caused 85% of cases by mutations either Endoglin (ENG) or Activin receptor-like kinase (ACVRL1/ACVRL1/ALK1) genes. Pathogenic have been described exons, splice junctions and, few with ENG mutations, the proximal...
Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a dominant genetic vascular disorder. In HHT, blood vessels are weak and prone to bleeding, leading epistaxis anaemia, severely affecting patients' quality of life. Development malformations in HHT patients originated mainly by mutations ACVRL1/ALK1 (activin receptor-like kinase type I) Endoglin (ENG) genes. These genes encode proteins the TGF-β signalling pathway endothelial cells, controlling angiogenesis....
Mutations in the endoglin (ENG) or ALK1 genes are responsible for hereditary hemorrhagic telangiectasia types 1 and 2 (HHT1 HHT2), respectively, a dominant vascular dysplasia caused by haploinsufficiency. No formal mutation studies of patients with HHT have been conducted Spain.ENG analyses were carried out 13 Spanish diagnosed according to Curacao criteria. Because is up-regulated at cell surface during monocyte-macrophage transition, concentrations activated monocytes determined...
Abstract Background Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder characterised mainly by mutations in the Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. Methods Here, we have identified 22 ALK1 15 ENG mutations, many of which had not previously been reported, independent Spanish families afflicted with HHT. Results We thirty-seven unrelated families. A detailed analysis clinical symptoms was recorded for each...
Local sclerotherapy with
Hereditary Haemorrhagic Telangiectasia or Rendu-Osler-Weber syndrome is a rare autosomal dominant vascular disease characterized by mucocutaneous and gastrointestinal telangiectases localized arteriovenous malformations in lung, brain liver. Epistaxis, due to rupture of the nasal mucosa, most frequent clinical manifestation, leading many cases severe impairment quality life patients. Though several treatments have been used reduce epistaxis, none completely effective, with exception...