Hereditary hemorrhagic telangiectasia (HHT) is mechanistically and therapeutically challenging, not only because of the molecular and cellular perturbations that generate vascular abnormalities, but also the modifications to circulatory physiology that result, and are likely to exacerbate vascular injury. First, most HHT patients have visceral arteriovenous malformations (AVMs). Significant vis...

1008 INSIGHTS | The Journal of Experimental Medicine Chronic nonhealing wounds such as diabetic ulcers are a major problem associated with human disease. In this issue, Liu et al. offer new hope for tackling nonhealing wounds by defining a novel role for the leukotriene B 4 receptor type 2 (BLT2) and its ligand 12-hydroxyheptadecatrienoic acid (12-HHT) in wound healing. They also show that high...

Hereditary haemorrhagic telangiectasia (HHT, Rendu-Osler-Weber syndrome) exemplifies an important group of diseases which have catalysed advances in the understanding of fundamental pathophysiological mechanisms. In this paper areas of clinical management of HHT are discussed and the molecular pathogenesis is reviewed. The first section is aimed at all clinicians and concentrates on the recogni...

Primary pulmonary hypertension (PPH) is a rare but severe and progressive disease characterised by obstructive lesions of small pulmonary arteries. Patients with PPH often have mutations in the bone morphogenetic protein receptor type II (BMPR2) gene, whereas some carry mutations in the activin receptor-like kinase 1 (ALK-1) gene, generally associated with hereditary haemorrhagic telangiectasia...

BACKGROUND AND PURPOSE Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for developing cerebral vascular malformations and pulmonary arteriovenous fistulae. We assessed the risk of neurological dysfunction from these malformations and fistulae. METHODS Three hundred twenty-one consecutive patients with HHT seen at a single institution over a 20-year period were studied. A...

Hereditary hemorrhagic telangiectasia HHT, Morbus Osler or Osler-Weber-Rendu syndrome OMIM 187300, is an autosomal dominant disorder characterized by epistaxis, telangiectasia, multi-systemic vascular dysplasia and clinical presentation of wide variation. The pathogenesis involves dilated post-capillary venules or telangiectases in the mucus membrane of various organs as well as larger arteriov...

BACKGROUND Heatwaves could cause the population excess death numbers to be ranged from tens to thousands within a couple of weeks in a local area. An excess mortality due to a special event (e.g., a heatwave or an epidemic outbreak) is estimated by subtracting the mortality figure under 'normal' conditions from the historical daily mortality records. The calculation of the excess mortality is a...

BACKGROUND The vascular disorder Hereditary Hemorrhagic Telangiectasia (HHT) is in general an inherited disease caused by mutations in the TGF-β/BMP receptors endoglin or ALK1 or in rare cases by mutations of the TGF-β signal transducer protein Smad4 leading to the combined syndrome of juvenile polyposis and HHT. HHT is characterized by several clinical symptoms like spontaneous and recurrent e...

Norden E. Huang et al. had proposed and published the Hilbert-Huang Transform (HHT) concept correspondently in 1996, 1998 [1]. The HHT is a novel method for adaptive spectral analysis of non-linear and non-stationary signals. The HHT comprises two components: – the Huang Empirical Mode Decomposition (EMD), resulting in an adaptive dataderived basis of Intrinsic Mode functions (IMFs), and the Hi...

Neurologic complications in patients with Hereditary Hemorrhagic Telangiectasia (HHT) occur as a consequence of a variety of vascular malformations. One type of intracranial malformation, saccular aneurysm, has recently been appreciated as a potential source of ischemic cerebrovascular disease on the basis of aneurysm to artery emboli. We report a patient with HHT and an unruptured saccular int...