Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer [PDF]
ABSTRACT Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by excessive and frequent epistaxis, telangiectasia, and visceral involvement, with a strong positive family history. The genes responsible for HHT are endoglin (ENG), activin A receptor‐like kinase 1 (ACVRL1 or ALK‐1), and SMAD4 are known.
Yamada M +9 more
europepmc +2 more sources
Predictive factors for microvascular recovery after treatments for diabetic retinopathy
Background To identify factors associated with microvascular recovery after intravitreal bevacizumab or panretinal photocoagulation (PRP) in diabetic retinopathy (DR).
Junyeop Lee +4 more
doaj +1 more source
Widening use of dexamethasone implant for the treatment of macular edema [PDF]
Sustained-release intravitreal 0.7 mg dexamethasone (DEX) implant is approved in Europe for the treatment of macular edema related to diabetic retinopathy, branch retinal vein occlusion, central retinal vein occlusion, and non-infectious uveitis.
Avitabile T. +9 more
core +2 more sources
Loss of Müller's cells and photoreceptors in macular telangiectasia type 2 [PDF]
PURPOSE: To correlate postmortem histology from a patient with macular telangiectasia (MacTel) type 2 with previously recorded clinical imaging data. DESIGN: Observational clinicopathologic case report.
Fruttiger, M. +5 more
core +1 more source
Genome-wide analyses identify common variants associated with macular telangiectasia type 2 [PDF]
Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS ...
A Bringmann +113 more
core +1 more source
Purpose: To present a case of vaso-vagal syncope (VVS) after mydriatic eye drops in a patient with cutaneous hemangioma and intracerebral vascular abnormalities.
Sarah A Alowedi +3 more
doaj +3 more sources
Oral and periodontal manifestations associated with systemic sclerosis: A case series and review
Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which ...
Rekha Jagadish +2 more
doaj +1 more source
Novel technologies and theoretical models in radiation therapy of cancer patients using 6.3 MeV fast neutrons produced by U-120 cyclotron [PDF]
The analysis of clinical use of neutron therapy with 6 MeV fast neutrons compared to conventional radiation therapy was carried out. The experience of using neutron and mixed neutron and photon therapy in patients with different radio-resistant malignant
Gribova, O. V. +4 more
core +1 more source
Conditional müller cell ablation causes independent neuronal and vascular pathologies in a novel transgenic model [PDF]
Müller cells are the major glia of the retina that serve numerous functions essential to retinal homeostasis, yet the contribution of Müller glial dysfunction to retinal diseases remains largely unknown.
Barnett, Nigel L. +10 more
core +1 more source
EFFICACY OF INTRAVITREAL AFLIBERCEPT IN MACULAR TELANGIECTASIA TYPE 1 IS LINKED TO THE OCULAR ANGIOGENIC PROFILE. [PDF]
To evaluate intravitreal aflibercept in macular telangiectasia Type 1 (MacTel 1) patients and measure their ocular angiogenic profile. Eight subjects with MacTel 1 refractory to bevacizumab, ranibizumab, or laser therapy and switched to aflibercept were ...
Autiero +56 more
core +2 more sources

