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telangiectasis/albumin
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Quantification of right-to-left shunt with (99m)Tc-labelled albumin macroaggregates and 100% oxygen in patients with hereditary haemorrhagic telangiectasia.
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Pulmonary arteriovenous malformations (PAVMs) are often associated with hereditary haemorrhagic telangiectasia (HHT). The quantification of right-to-left shunts in patients with PAVMs is important in diagnosis and follow up. Traditionally, this shunt is measured by the 100% oxygen method, in which
Altered Cerebrospinal Fluid (CSF) in Children with Ataxia Telangiectasia
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Ataxia telangiectasia (A-T) is a devastating multi-system disorder characterized by progressive cerebellar ataxia and immunodeficiency. The neurological decline may be caused by multiple factors of which ongoing inflammation and oxidative stress may play a dominant role. The objective of the present
Linear growth and endocrine function in children with ataxia telangiectasia.
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BACKGROUND
Ataxia telangiectasia (AT) is a rare, genetic, primary immune deficiency disease characterized by immunodeficiency and neurological manifestations, with an increased tendency to infection, malignancy, and autoimmune diseases. Both growth delay and endocrine abnormalities are occasionally
Injections of Intravenous Contrast for Computerized Tomography Scans Precipitate Migraines in Hereditary Hemorrhagic Telangiectasia Subjects at Risk of Paradoxical Emboli: Implications for Right-to-Left Shunt Risks.
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OBJECTIVE
To evaluate if injection of intravenous particles may provoke migraines in subjects with right-to-left shunts due to pulmonary arteriovenous malformations (AVMs).
BACKGROUND
Migraine headaches commonly affect people with hereditary hemorrhagic telangiectasia (HHT), especially those with
Review of diagnostic uses of shunt fraction quantification with technetium-99m macroaggregated albumin perfusion scan as illustrated by a case of Osler-Weber-Rendu syndrome.
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Bilateral pulmonary arteriovenous malformations (AVMs) are rare and are often associated with the hereditary hemorrhagic telangiectasia (HHT/Osler-Weber-Rendu) syndrome. We present a woman who presented with neurological symptoms due to a cerebral abscess. On further evaluation, bilateral pulmonary
Pulmonary telangiectasia.
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Pulmonary telangiectasia is an uncommon developmental anomaly characterized by minute arteriovenous fistulae disseminated throughout both lungs. It should be suspected in patients with cyanosis and digital clubbing who do not have chronic lung disease or a cyanotic cardiac anomaly. The presence of
Reversibility of pulmonary telangiectasia in liver cirrhosis evidenced by serial dynamic pulmonary perfusion imaging.
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Pulmonary perfusion imaging with Tc-99m MAA revealed significant uptake in the lungs, brain, spleen, and both kidneys of a 48-year-old woman with liver cirrhosis and pulmonary telangiectasia associated with marked hypoxemia and cyanosis. Dynamic pulmonary perfusion imaging revealed a gradual
A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.
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Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a
Alpha fetoprotein is increasing with age in ataxia-telangiectasia.
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The elevated serum alpha fetoprotein (AFP) concentration in ataxia-telangiectasia (A-T) patients has been known for decades, but the individual variation of AFP levels over time has not been studied. We have followed 12 patients (five girls and seven boys) for 1-12 years (mean 5.5 years) measuring
Ataxia telangiectasia mutated pathway disruption affects hepatic DNA and tissue damage in nonalcoholic fatty liver disease.
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To overcome the rising burdens of nonalcoholic fatty liver disease, mechanistic linkages in mitochondrial dysfunction, inflammation and hepatic injury are critical. As ataxia telangiectasia mutated (ATM) gene oversees DNA integrity and mitochondrial homeostasis, we analyzed mRNAs and total proteins
Detection of pulmonary telangiectasia using dynamic pulmonary perfusion imaging in patients with liver cirrhosis.
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Two cases of liver cirrhosis associated with marked hypoxemia are presented. Chest radiographs and cardiopulmonary function showed no abnormalities, except for the low diffusion capacity of carbon monoxide and slight elevation of the shunt ratio (20 and 6.2%, respectively), as estimated under
[Clinical analysis of 23 cases of hepatopulmonary syndrome].
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OBJECTIVE
To describe the clinical features and to highlight the main criteria for diagnosis of hepatopulmonary syndrome (HPS).
METHODS
Twenty-three patients with HPS were retrospectively investigated.
RESULTS
Twenty-two cases had cirrhosis while one had acute hepatitis. The male to female ratio was
Evaluation of oral methotrexate in the treatment of systemic sclerosis.
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BACKGROUND
Treatment of scleroderma is difficult and currently no treatment can induce complete remission of the disease.
OBJECTIVE
To evaluate weekly oral methotrexate in the treatment of Indian patients with systemic sclerosis.
METHODS
Thirty-three patients with systemic sclerosis presenting to
Exposure to sub-acute doses of fipronil and buprofezin in combination or alone induces biochemical, hematological, histopathological and genotoxic damage in common carp (Cyprinus carpio L.).
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Use of pesticides or insecticides can be highly toxic to aquatic life forms due to leaching and agricultural runoff, rains or flood. Fipronil (FP) is a GABA receptor inhibitor, while buprofezin (BPFN) is an insect growth regulator. Presently, we exposed groups of aquaria acclimated carp fish
[Facial skin lesions in male patients with liver cirrhosis: role of serum sex hormones and correlation with impaired liver function].
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OBJECTIVE
To investigate the relationship between serum sex hormone levels, liver function, and pathogenic mechanisms related to cutaneous lesions involving the facial skin in male patients with liver cirrhosis.
METHODS
Fifty male cirrhotic patients with facial skin lesions, including spider
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