Anette Drøhse Kjeldsen
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View article: Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia Open
Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in internal organs. It is mainly caused by heterozygous pathogeni…
View article: Real-life evaluation of the effectiveness of biologics for chronic rhinosinusitis with nasal polyps in Europe: a Delphi study to define key variables for the INVENT registry
Real-life evaluation of the effectiveness of biologics for chronic rhinosinusitis with nasal polyps in Europe: a Delphi study to define key variables for the INVENT registry Open
Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a persistent inflammatory condition often associated with type 2 inflammation. While biologics are a promising treatment for patients with uncontrolled CRSwNP, real-world evid…
View article: Diurnal variation of post-tonsillectomy haemorrhage
Diurnal variation of post-tonsillectomy haemorrhage Open
INTRODUCTION. Post-tonsillectomy haemorrhage (PTH) is typically self-limiting but may require medical intervention or surgery. PTH is classified as either primary (within 24 hours) or secondary (after 24 hours). Secondary haemorrhage is of…
View article: Characterization of Chronic Rhinosinusitis Patients Based on Markers of Type 2 Inflammation: Findings From the European CRS Outcome Registry (CHRINOSOR)
Characterization of Chronic Rhinosinusitis Patients Based on Markers of Type 2 Inflammation: Findings From the European CRS Outcome Registry (CHRINOSOR) Open
Background Primary chronic rhinosinusitis (CRS) can be classified based on the sinuses involved and the dominant endotype of the mucosal inflammation. Since the introduction of type 2 targeted biologics as treatment option for CRS, assessm…
View article: Hereditary haemorrhagic telangeiectasia
Hereditary haemorrhagic telangeiectasia Open
Hereditary haemorrhagic telangeiectasia (HHT) is an autosomal dominant hereditary disease, which affects 15.6/100,000 people in Denmark. In this review, we summarize the current Danish practice on screening, diagnosis, treatment and outpat…
View article: Multiple Lesion-Specific Somatic Mutations and Bi-Allelic Loss of ACVRL1 in a single patient with Hereditary Haemorrhagic Telangiectasia
Multiple Lesion-Specific Somatic Mutations and Bi-Allelic Loss of ACVRL1 in a single patient with Hereditary Haemorrhagic Telangiectasia Open
Background Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in internal organs. It is mainly caused by heterozygou…
View article: Pulmonary arteriovenous malformations in patients with previous brain abscess: a cross‐sectional population‐based study
Pulmonary arteriovenous malformations in patients with previous brain abscess: a cross‐sectional population‐based study Open
Background and purpose Pulmonary arteriovenous malformations (PAVMs) may cause recurrent brain abscess. The primary aim was to determine the prevalence of PAVM amongst survivors of brain abscess. The proportion with cardiac right‐to‐left s…
View article: High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia
High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia Open
Background and purpose Hereditary haemorrhagic telangiectasia (HHT) is a genetic disease with fragile blood vessels and vascular malformations, potentially causing neurological manifestations, including stroke and cerebral abscesses. The s…
View article: The multidisciplinary approach to eosinophilia
The multidisciplinary approach to eosinophilia Open
Eosinophilic granulocytes are normally present in low numbers in the bloodstream. Patients with an increased number of eosinophilic granulocytes in the differential count (eosinophilia) are common and can pose a clinical challenge because …
View article: Skin and mucosal telangiectatic lesions in hereditary hemorrhagic telangiectasia patients
Skin and mucosal telangiectatic lesions in hereditary hemorrhagic telangiectasia patients Open
Background The diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT) include the presence of telangiectatic lesions in common sites (nose, fingers, oral cavity, and lips). Telangiectatic lesions are described as red spots in …
View article: The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care Open
Hereditary haemorrhagic telangiectasia (HHT) is a complex, multisystemic vascular dysplasia affecting approximately 85,000 European Citizens. In 2016, eight founding centres operating within 6 countries, set up a working group dedicated to…
View article: A retrospective cohort study on European Reference Network for Rare Vascular Diseases 5 outcome measures for Hereditary Haemorrhagic Telangiectasia in Denmark
A retrospective cohort study on European Reference Network for Rare Vascular Diseases 5 outcome measures for Hereditary Haemorrhagic Telangiectasia in Denmark Open
Background Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by several clinical symptoms including epistaxis, arteriovenous malformations (AVM), and telangiectasia. In 2018, European Reference Ne…
View article: Successful treatment of massive haemoptysis in a young woman with anastomosis of right internal mammary artery to right superior pulmonary vein fistula
Successful treatment of massive haemoptysis in a young woman with anastomosis of right internal mammary artery to right superior pulmonary vein fistula Open
A 21-year-old, otherwise healthy, female patient was admitted with haemoptysis. Chest X-ray and CT found a consolidated right middle pulmonary lobe. Catheter angiography of ascending aorta visualised two hypertrophic and tortuous branches …
View article: Chromosomal translocation disrupting the <i>SMAD4</i> gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
Chromosomal translocation disrupting the <i>SMAD4</i> gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia Open
Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome. Next‐Generation Sequencing (NGS) techniques disclose causa…
View article: Evaluation of nasal septal deviation in patients with chronic rhinosinusitis – an interrater agreement study
Evaluation of nasal septal deviation in patients with chronic rhinosinusitis – an interrater agreement study Open
Background: The significance of nasal septal deviations may be hard to evaluate. Patient history, clinical examination, nasal endoscopy and sinus CT scans contribute in the evaluation. We aimed to investigate the interrater agreement in th…
View article: Nasal symptoms in patients with NSAID hypersensitivity
Nasal symptoms in patients with NSAID hypersensitivity Open
Background: Approximately 1 to 2% of the general population suffers from nonsteroidal anti-inflammatory drugs (NSAID) hypersensitivity. NSAID hypersensitivity is closely associated with concomitant respiratory disease. Exact knowledge of s…
View article: Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia
Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia Open
With potential increase in use of Bevacizumab and Thalidomide in HHT patients, data presented support appropriate weighing of the toxicities which can arise in HHT settings and the practice recommendations for their prevention and manageme…
View article: Does severe bleeding in HHT patients respond to intravenous bevacizumab? Review of the literature and case series
Does severe bleeding in HHT patients respond to intravenous bevacizumab? Review of the literature and case series Open
Based on the literature review and data from our own case series, systemic bevacizumab is very promising as treatment for HHT patients with severe epistaxis and/or GI-bleeding. However, care should be taken using bevacizumab, a potent angi…