scholarly journals An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

2022 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Martina Formisano ◽  
Carla Marani ◽  
Siavash Rahimi
Keyword(s):  
Fluorescein Angiography ◽  
Near Infrared ◽  
Transforming Growth Factor ◽  
Clinical Manifestations ◽  
Wide Field ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Near Infrared Reflectance ◽  
Early Management ◽  
Recurrent Epistaxis ◽  
Weber Syndrome

AbstractHereditary haemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber syndrome is a rare autosomal dominant disease, characterised by systemic angiodysplasia. Dysfunction of the signalling pathway of β transforming growth factor is the main cause of HHT principally owing to mutations of the genes encoding for endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1). Clinical manifestations can range from mucocutaneous telangiectasia to organ arterio-venous malformations and recurrent epistaxis. The early clinical manifestations may sometimes be subtle, and diagnosis may be delayed. The main ophthalmic manifestations historically reported in HHT are haemorrhagic epiphora, and conjunctival telangiectasia present in 45–65% of cases, however, imaging with wide-field fluorescein angiography has recently shown peripheral retinal telangiectasia in 83% of patients. Optimal management of HHT requires both understanding of the clinical presentations and detection of early signs of disease. Advances in imaging methods in ophthalmology such as wide-field fluorescein angiography, spectral domain optical coherence tomography, and near infrared reflectance promise further insight into the ophthalmic signs of HHT towards improved diagnosis and early management of possible severe complications.

scholarly journals Hereditary haemorrhagic telangiectasia: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph
Keyword(s):  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Lower Lip ◽  
Recurrent Epistaxis ◽  
Receptor Like Kinase ◽  
History Of ◽  
The Right ◽  
Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

scholarly journals Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells

2010 ◽  
Vol 103 (03) ◽  
pp. 441-451 ◽  
Author(s):  
Virginia Albiñana ◽  
Maria Bernabeu-Herrero ◽  
Roberto Zarrabeitia ◽  
Carmelo Bernabeu ◽  
Luisa Botella
Keyword(s):  
Endothelial Cells ◽  
Molecular Mechanisms ◽  
Transforming Growth Factor ◽  
Estrogen Therapy ◽  
Clinical Manifestations ◽  
Transforming Growth Factor Β ◽  
Therapeutic Effects ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Cell Functions

SummaryHereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is an autosomal dominant vascular disease. The clinical manifestations are epistaxis, mucocutaneous and gastrointestinal telangiectases, and arteriovenous malformations. There are two predominant types of HHT caused by mutations in Endoglin (ENG) and activin receptor-like kinase 1 (ALK1) (ACVRL1) genes, HHT1 and HHT2, respectively. No cure for HHT has been found and there is a current need to find new effective drug treatments for the disease. Some patients show severe epistaxis which interferes with their quality of life. We report preliminary results obtained with Raloxifene to treat epistaxis in postmenopausal HHT women diagnosed with osteoporosis. We tried to unravel the molecular mechanisms involved in the therapeutic effects of raloxifene. ENG and ACVRL1 genes code for proteins involved in the transforming growth factor β pathway and it is widely accepted that haploinsufficiency is the origin for the pathogenicity of HHT. Therefore, identification of drugs able to increase the expression of those genes is essential to propose new therapies for HHT. In vitro results show that raloxifene increases the protein and mRNA expression of ENG and ALK1 in cultured endothelial cells. Raloxifene also stimulates the promoter activity of these genes, suggesting a transcriptional regulation of ENG and ALK1. Furthermore, Raloxifene improved endothelial cell functions like tubulogenesis and migration in agreement with the reported functional roles of Endoglin and ALK1. Our pilot study provides a further hint that oral administration of raloxifene may be beneficial for epistaxis treatment in HHT menopausal women. The molecular mechanisms of raloxifene involve counteracting the haploin-sufficiency of ENG and ALK1.

scholarly journals Severe Recurrent Epistaxis - The Main Symptom of Hereditary Haemorrhagic Teleangiectasia

2018 ◽  
Vol 18 (3) ◽  
pp. 42-48
Author(s):  
M Lucanska ◽  
A Hajtman ◽  
R Pecova
Keyword(s):  
Arterial Embolization ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Therapeutic Modalities ◽  
Vascular Walls ◽  
Organ Systems ◽  
Causal Therapy ◽  
Recurrent Epistaxis ◽  
Weber Syndrome ◽  
Therapeutic Procedures ◽  
Autosomal Inheritance

Abstract Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is of dominant autosomal inheritance. Pathologic changes of vascular walls cause recurrent episodes of bleeding from many organ systems. Recurrent epistaxis is the first and the most frequent symptom of HHT. The causal therapy is not known but there are many therapeutic procedures improving the overall condition. We present a case of a 76-year-old man suffering from HHT, frequently hospitalized and treated for massive nose bleeding. In past a selective arterial embolization was performed thrice; nonetheless, the intensity and frequency of epistaxis remained unchanged. Anterior nasal package and electrocoagulation were performed repeatedly as the “first aid” treatment. In the article we also mention other therapeutic modalities for this diagnosis; unfortunately, their efficacy remains inadequate.

Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations

2021 ◽  
Vol 14 (1) ◽  
pp. e238385
Author(s):  
Louise Dunphy ◽  
Ambika Talwar ◽  
Neil Patel ◽  
Alex Evans
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor Beta ◽  
Arteriovenous Malformations ◽  
Transforming Growth Factor ◽  
Plasma Concentrations ◽  
Delayed Diagnosis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Pulmonary Arteriovenous Malformations ◽  
Autosomal Dominant Disorder ◽  
Recurrent Epistaxis

Hereditary haemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu syndrome is an autosomal dominant disorder affecting 1 in 8000 individuals. The eponym recognises the 19th-century physicians William Osler, Henri Jules Louis Marie Rendu and Frederick Parkes Weber who each independently described the disease. It is characterised by epistaxis, telangiectasia and visceral arteriovenous malformations. Individuals with HHT have been found to have abnormal plasma concentrations of transforming growth factor beta and vascular endothelial growth factor secondary to mutations in ENG, ACVRL1 and MADH4. Pulmonary artery malformations (PAVMs) are abnormal communications between pulmonary arteries and veins and are found in up to 50% of individuals with HHT. The clinical features suggestive of PAVMs are stigmata of right to left shunting such as dyspnoea, hypoxaemia, cyanosis, cerebral embolism and unexplained haemoptysis or haemothorax. The authors present the case of a 33-year-old woman presenting with progressive dyspnoea during the COVID-19 pandemic. She had a typical presentation of HHT with recurrent epistaxis, telangiectasia and pulmonary arteriovenous malformations. Although rare, PAVM should be considered in individuals presenting to the emergency department with dyspnoea and hypoxaemia. Delayed diagnosis can result in fatal embolic and haemorrhagic complications.

scholarly journals Life-threatening anaemia in patient with hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 134-138
Author(s):  
Melania Mikołajczyk-Solińska ◽  
Karolina Leończyk ◽  
Aleksandra Brzezina ◽  
Sylwia Rossa ◽  
Jacek Kasznicki
Keyword(s):  
Wide Spectrum ◽  
Disease Onset ◽  
Diagnostic Delay ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Ongoing Research ◽  
Clinical Criteria ◽  
Weber Syndrome ◽  
Life Threatening ◽  
Clinically Significant

AbstractHereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations from epistaxis to clinically significant arteriovenous malformations (AVM) in the lungs, liver, brain and spine. The diagnosis of HHT is based on clinical criteria. There is a long diagnostic delay of nearly 3 decades since disease onset. The treatment is based on various types of haemostasis. There is ongoing research with potential therapies which may prevent and decrease the severity of epistaxis. Thalidomide may be an effective treatment to decrease the bleeding symptoms of patients with HHT.

scholarly journals Predicting quality, texture and chemical content of yam (Dioscorea alata L.) tubers using near infrared spectroscopy

2021 ◽  
pp. 096703352110075
Author(s):  
Adou Emmanuel Ehounou ◽  
Denis Cornet ◽  
Lucienne Desfontaines ◽  
Carine Marie-Magdeleine ◽  
Erick Maledon ◽  
...  
Keyword(s):  
High Throughput ◽  
Dry Matter ◽  
Near Infrared ◽  
Reflectance Spectroscopy ◽  
Infrared Reflectance ◽  
Quality Traits ◽  
Near Infrared Reflectance Spectroscopy ◽  
Near Infrared Reflectance ◽  
Infrared Reflectance Spectroscopy ◽  
Texture Attributes

Despite the importance of yam ( Dioscorea spp.) tuber quality traits, and more precisely texture attributes, high-throughput screening methods for varietal selection are still lacking. This study sets out to define the profile of good quality pounded yam and provide screening tools based on predictive models using near infrared reflectance spectroscopy. Seventy-four out of 216 studied samples proved to be moldable, i.e. suitable for pounded yam. While samples with low dry matter (<25%), high sugar (>4%) and high protein (>6%) contents, low hardness (<5 N), high springiness (>0.5) and high cohesiveness (>0.5) grouped mostly non-moldable genotypes, the opposite was not true. This outline definition of a desirable chemotype may allow breeders to choose screening thresholds to support their choice. Moreover, traditional near infrared reflectance spectroscopy quantitative prediction models provided good prediction for chemical aspects (R2 > 0.85 for dry matter, starch, protein and sugar content), but not for texture attributes (R2 < 0.58). Conversely, convolutional neural network classification models enabled good qualitative prediction for all texture parameters but hardness (i.e. an accuracy of 80, 95, 100 and 55%, respectively, for moldability, cohesiveness, springiness and hardness). This study demonstrated the usefulness of near infrared reflectance spectroscopy as a high-throughput way of phenotyping pounded yam quality. Altogether, these results allow for an efficient screening toolbox for quality traits in yams.

scholarly journals Climate predicts both visible and near‐infrared reflectance in butterflies

2021 ◽  
Author(s):  
Changku Kang ◽  
Sehyeok Im ◽  
Won Young Lee ◽  
Yunji Choi ◽  
Devi Stuart‐Fox ◽  
...  
Keyword(s):  
Near Infrared ◽  
Infrared Reflectance ◽  
Near Infrared Reflectance
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