alpha 1-antitrypsin deficiency/hypoxia

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Identification of a novel alpha1-antitrypsin variant.

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Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity in the serum and predisposes to emphysema and/or to liver disease due to accumulation of the abnormal protein in the hepatic cells. In most cases the

Alpha 1 antitrypsin liver disease differential diagnosis of PAS-positive, diastase-resistant globules in liver cells.

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In 500 consecutive autopsies there were 27 cases in which the livers contained PAS-positive, diastase-resistant globules within hepatocytes. On the basis of morphologic findings and immunoperoxidase staining the inclusions were separable into two groups. There were 14 (2.8%) cases in which the

Genetic risk factors for chronic obstructive pulmonary disease.

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Numerous epidemiologic studies have indicated that there is a genetic basis to COPD. This result suggests that COPD develops in genetically susceptible individuals after sufficient exposure to cigarette smoke. At present, most of the genes that contribute to the genetic component to COPD are

[Role of autophagy in the pathogenesis of liver diseases].

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Autophagy is a self-digestion process that plays an important role in the development, differentiation and homeostasis of cells, helping their survival during starvation and hypoxia. Accumulated mutant proteins in the endoplasmic reticulum can be degraded by autophagy in alpha-1 antitrypsin

Generalized emphysema and chronic obstructive pulmonary disease in a farmer, non-smoker - the more we seek, the more we find.

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Although alpha-1 antitrypsin (A1AT) deficiency represents one of the most common genetically conditioned diseases in the population of Caucasian adult individuals, it is rarely diagnosed. Alpha-1 antitrypsin is an important component of the anti-proteolytic protection in the lungs.

Transesophageal echocardiography during lung transplantation.

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Transesophageal echocardiography (TEE) is a semi-invasive monitoring technique increasingly used in cardiac surgery and in major noncardiac surgery for patients with known or supposed cardiac or coronary problems. During lung transplantation (LTx), the close interrelation between heart and lung

Autophagy in liver diseases.

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Autophagy, or cellular self-digestion, is a cellular pathway crucial for development, differentiation, survival, and homeostasis. Its implication in human diseases has been highlighted during the last decade. Recent data show that autophagy is involved in major fields of hepatology. In liver

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