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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease. Conjunctival telangiectasias and retinal vascular malformations are known ocular manifestations. We report here the first case of open angle glaucoma in a patient with HHT caused by a nonsense mutation, C471X in the ACVRL1 gene.

Our case report demonstrates the use of phase contrast magnetic resonance imaging (MRI) in monitoring the functional status of liver vasculature in a patient with hereditary hemorrhagic telangiectasia (HHT) who was treated with bevacizumab. Our report provides additional information that can be further utilized in clinical settings and research.

We report a case of a patient affected by juvenile polyposis and hereditary hemorrhagic telangiectasia linked to a SMAD4 mutation who developed acute lymphoblastic leukemia positive for the Philadelphia chromosome translocation and with a complex karyotype. During the treatment with the tyrosine kinase inhibitor dasatinib the patient presented recurrent severe gastrointestinal hemorrhages linke...

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...

Patients with Hereditary Hemorrhagic Telangiectasia (HHT) frequently present with epistaxis. Up to 98% of these patients will have epistaxis at some point in their life. There are multiple ways to deal with this problem, including conservative, medical and surgical options. We present a case and an update on the treatment options for HHT, with a focus on the newer and experimental techniques.

The main results of this paper are a Cell Decomposition Theorem for Henselian valued fields with analytic structure in an analytic Denef-Pas language, and its application to analytic motivic integrals and analytic integrals over Fq((t)) of big enough characteristic. To accomplish this, we introduce a general framework for Henselian valued fields K with analytic structure, and we investigate the...

Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder manifested by telangiectases of the skin and mucous membranes and arteriovenous malformations of various organ systems. We present a case of Osler-Weber-Rendu syndrome with 11 affected members in her family.

We report the case of a young woman with hereditary hemorrhagic telangiectasia (HHT) with severe liver involvement and pulmonary shunting. The medical imaging in this patient illustrates the severe shunting that can occur in these patients who often are asymptomatic. By showing this case, we want to highlight the role of liver transplantation in HHT with hepatic involvement.

A unique case of recurrent brain abscess as the primary manifestation of pulmonary arteriovenous fistula is presented. In the absence of hematologic abnormalities and characteristic physical findings, the diagnosis of pulmonary arteriovenous fistula is particularly elusive. Patients with brain abscess must be carefully evaluated for the presence of pulmonary arteriovenous fistula or hereditary ...