telangiectasis/hypoxia

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Hypoxia-induced phosphorylation of Chk2 in an ataxia telangiectasia mutated-dependent manner.

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Chk2 is a serine/threonine kinase that signals to cell cycle arrest, DNA repair, and apoptotic pathways following DNA damage. It is activated by phosphorylation in response to ionizing radiation, UV light, stalled replication forks, and other types of DNA damage. Hypoxia is a common feature of solid

Pulmonary telangiectasia without hypoxemia.

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We describe an elderly patient with an unusual presentation of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) involving the lung. He had recurrent "pneumonia" caused by massive hemorrhage from endobronchial telangiectases. When stable, he was normoxic, had no evidence of

Transcatheter closure of a pulmonary arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia.

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Pulmonary arteriovenous malformations (PAVM) are rare pulmonary vascular anomalies. Over 50 % of the cases are associated with hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu Syndrome. Untreated PAVMs progressively enlarge and can cause significant right-to-left shunting. Surgical- and

[Hereditary hemorrhagic telangiectasia. Report of a pediatric case].

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Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant multiorgan disorder. This multisystemic vascular dysplasia is determined by a mutation of one of two main genes, endoglin (ENG) or HHT1, or ACVRL1 or HHT2. These mutations induce vascular disorders that

A 58-year-old woman with hypoxia, hypoxaemia, a hole in the heart and a … herring! Intracardiac or extracardiac shunt? That is the question!

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We describe a case of a previously healthy 58-year-old woman who presented with gradual onset shortness of breath on exertion, erythrocytosis, hypoxia and hypoxaemia. Initial investigations revealed a normal chest radiography and pulmonary function test, however, there was an isolated reduction in

A patient with severe hypoxia secondary to a large iatrogenic pulmonary artery to pulmonary vein fistula.

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Pulmonary arteriovenous malformations are uncommon communications between the pulmonary arteries and veins, most commonly associated with hereditary haemorrhagic telangiectasia. They can also be associated with a variety of other conditions, and can be single or multiple. We present a case of a

An intravenous radionuclide method to evaluate hypoxemia caused by abnormal alveolar vessels. Limitation of conventional techniques.

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Using conventional concepts, it is possible that a single pathologic entity, pulmonary telangiectases, can produce hypoxia by 3 physiologic mechanisms; shunt, diffusion defect, and ventilation-perfusion abnormalities. The estimation of shunt or shunt-like effect is traditionally calculated by

Activation of ATM-c-IAP1 Pathway Mediates the Protective Effects of Estradiol in Human Vascular Endothelial Cells Exposed to Intermittent Hypoxia.

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Chronic intermittent hypoxia (CIH) contributes to the increased risk of cardiovascular diseases in obstructive sleep apnea (OSA). We previously reported the anti-apoptotic effects of estradiol (E2) on IH-exposed human umbilical vein endothelial cells (HUVECs). Herein, we employed a

SUMOylation attenuates sensitivity toward hypoxia- or desferroxamine-induced injury by modulating adaptive responses in salivary epithelial cells.

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Hypoxic stress activates various signal transduction pathways including posttranslational modification with the ubiquitin-like SUMO protein (SUMOylation). However, the molecular mechanisms by which SUMOylation regulates hypoxic responses remain unclear. Here, we investigated the ability of rat

A 24-year-old man with chest pain, hemoptysis, and hypoxia.

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The diagnosis of pulmonary arteriovenous malformations in patients remains a diagnostic challenge to the emergency physician. Pulmonary arteriovenous malformations are abnormal direct connections that shunt unoxygenated blood from pulmonary arteries to pulmonary veins, resulting in hypoxia. They

Hereditary hemorrhagic telangiectasia with growing pulmonary arteriovenous fistulas followed for 24 years.

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A 47-year-old man was admitted for follow-up of an abnormal chest x-ray. He had a history of epistaxis and a brain abscess and a family history of pulmonary arteriovenous fistulas. Physical examination showed clubbed fingers and telangiectasia of the tongue. Laboratory data revealed evidence of

Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations.

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BACKGROUND Most congenital pulmonary arteriovenous malformations are associated with hereditary hemorrhagic telangiectasia. During pregnancy, pulmonary hemorrhage can occur, compromising maternal and fetal health. METHODS We studied three pregnancies in two women with hemorrhagic telangiectasia

A case report of hepatopulmonary syndrome in hereditary hemorrhagic telangiectasia (HHT): Not all right-to-left shunting in HHT is due to pulmonary arteriovenous malformations.

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BACKGROUND Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal vessel growth that results in telangiectasias and arteriovenous malformations (AVMs) in the skin, mucosa, and viscera. Up to 30% of patients with HHT exhibit pulmonary AVMs (PAVMs),

Hereditary hemorrhagic telangiectasia or Rendu-Osler-Weber syndrome in the same family.

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The authors present the case of three patients from the same family in whom hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber syndrome was diagnosed. The disease is rare and occurs with multiple telangiectases of the skin and mucosa, and pulmonary arteriovenous fistulae. The clinical

[A case of multiple pulmonary arteriovenous fistulae associated with hereditary hemorrhagic telangiectasia that deteriorated during pregnancy].

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A 29-year-old woman was admitted to our hospital because of persistent breathlessness on exertion after the delivery of her second child. Although at the age of 26 she had been given a diagnosis of multiple pulmonary arteriovenous fistula (PAVF), treatment was not done because of the absence of

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