PubMed Journals Articles About "Alpha Antitrypsin Deficiency" RSS

12:47 EDT 17th August 2018 | BioPortfolio

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Showing "Alpha Antitrypsin Deficiency" PubMed Articles 1–25 of 3,400+

Longterm Homecare Augmentation Program in Alpha-1-Antitrypsin Deficient Patients.

Augmentation with human alpha-1 proteinase inhibitor is the only specific treatment for Alpha-1-Antitrypsin Deficiency (AATD), a rare genetic disease with symptoms of progressive COPD.

Retrospective analysis of children with α-1 antitrypsin deficiency.

α-1 Antitrypsin (AAT) deficiency is the most frequently occurring genetic liver disorder. The association among classical α-1 antitrypsin deficiency (AATD), chronic liver disease, and cirrhosis is common in adult patients but rare in children.

Testing for alpha-1 antitrypsin in COPD in outpatient respiratory clinics in Spain: A multilevel, cross-sectional analysis of the EPOCONSUL study.

Alpha-1 antitrypsin deficiency (AATD) is the most common hereditary disorder in adults, but is under-recognized. In Spain, the number of patients diagnosed with AATD is much lower than expected according to epidemiologic studies. The objectives of this study were to assess the frequency and determinants of testing serum α1-antitrypsin (AAT) levels in COPD patients, and to describe factors associated with testing.

α-antitrypsin polymerizes in alveolar macrophages of smokers with and without α-antitrypsin deficiency.

The deficiency of α-antitrypsin (AAT) is secondary to misfolding and polymerization of the abnormal Z-AAT in liver cells and is associated with lung emphysema. Alveolar macrophages (AM) produce AAT, however it is not known if Z-AAT can polymerize in AM, further decreasing lung AAT and promoting lung inflammation.

Coexistent Alpha-1 Antitrypsin Deficiency and Hereditary Hemochromatosis.

Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion. The primary manifestation of AAT is early-onset pulmonary disease, while hemochromatosis primarily affects function of the liver, heart, and pancreas through excess iron deposition. No clear association between the two diseases has been delineated. We present a case in which a 34-year old female patient presenting with elevated liver enzymes during a visit for an unrelated a...

Presentation and Prognosis of liver disease in alpha-1 antitrypsin deficiency.

Hyperpolarized He MRI Ventilatory Apparent Diffusion Coefficient of Alpha-1 Antitrypsin Deficiency.

Impact of HIV Infection on Alpha-1 Antitrypsin in the Lung.

Emphysema is one of the most common lung diseases in HIV+ individuals. The pathogenesis of HIV-associated emphysema remains unclear; however, radiographic distribution and earlier age of presentation of emphysema in the lungs of HIV+ patients are similar to deficiency of alpha-1 antitrypsin (A1AT), a key elastase inhibitor in the lung. Reduced levels of circulating A1AT have been detected in HIV+ patients, suggesting a potential mechanism for emphysema development. In the present study, we asked if A1AT lev...

Alpha-1 Antitrypsin Deficiency as a Candidate for Gene Editing.

Functional characterization of the mouse Serpina1 paralog DOM-7.

The generation of authentic mouse-models for human α1-antitrypsin-deficiency is difficult due to the high complexity of the mouse Serpina1 gene locus. Depending on the exact mouse strain, three to five paralogs are expressed, with different proteinase inhibitory properties. With nowadays CRISPR-technology, genome editing of complex genomic loci is feasible and could be employed for generation of α1-antitrypsin-deficiency mouse-models. In preparation of a CRISPR/Cas9-based genome-engineering approach we id...

Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population.

Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant disease characterised by low serum levels of this molecule. Its epidemiology remains unknown in many countries, mainly due to its underdiagnosed state and lack of patients' registries. We aim to evaluate and characterise a sample of Portuguese individuals tested for AATD, between 2006 and 2015, based on a retrospective analysis from the database of a laboratory offering AATD genetic diagnosis service. 1684 individuals were considered, coverin...

Similarities in the Computed Tomography Appearance in α1-Antitrypsin Deficiency and Smoking-Related Chronic Obstructive Pulmonary Disease in a Smoking Collective.

Emphysematous destruction of lung parenchyma visible in computed tomography (CT) can be attributed to chronic obstructive pulmonary disease (COPD) or to α1-antitrypsin deficiency (AATD).

Chronic Obstructive Pulmonary Disease. A Biomarker and a Potential Therapy.

This article assesses developments in cardiorespiratory medicine since the Nobel Prize in Physiology or Medicine was awarded in 1956 for advancements in the study of cardiorespiratory disease. In chronic obstructive pulmonary disease, advances were accelerated by the discovery of a genetically determined cause for pulmonary emphysema in the genetic abnormality alpha-1 antitrypsin deficiency. This causes a deficiency of the inhibitor of neutrophil elastase, which results in increased degradation of lung elas...

hiPSC hepatocyte model demonstrates the role of unfolded protein response and inflammatory networks in α-antitrypsin deficiency.

α-antitrypsin deficiency (A1ATD) is an autosomal recessive disorder caused by mutations in the SERPINA1 gene. Individuals with the Z variant (Gly342Lys) retain polymerised protein in the endoplasmic reticulum (ER) of their hepatocytes, predisposing them to liver disease. The concomitant lack of circulating A1AT also causes lung emphysema. Greater insight into the mechanisms that link protein misfolding to liver injury will facilitate the design of novel therapies.

The Effects of Inflammation on Alpha 1 Antitrypsin Levels in a National Screening Cohort.

Alpha 1 Antitrypsin (AAT) is a highly polymorphic serum protein. Several genetic variants are associated with varying degrees of decreased serum levels; however, these levels can rise in response to infection, inflammation, injury and estrogen levels. Although the effect of inflammation is well established, it has never been studied quantitatively with respect to specific genotypes in a large representative sample. Using data from a national AAT deficiency-targeted screening cohort, we evaluated AAT levels ...

Amelioration of Alpha-1 Antitrypsin Deficiency Diseases with Genome Editing in Transgenic Mice.

Alpha-1 antitrypsin deficiency (AATD) is a hereditary liver disease caused by mutations in the SERPINA1 gene. Most severe patients are homozygous for PiZ alleles (PiZZ; amino acid E324K), which lead to protein aggregates in hepatocytes and reduced circulating levels of AAT. The liver aggregates typically lead to fibrosis, cirrhosis, and hepatocellular carcinoma, and the reduced circulating AAT levels can lead to emphysema and Chronic Obstructive Pulmonary Diseases (COPD). In this study, two CRISPR/Cas9 gene...

Human alpha 1-antitrypsin protects neurons and glial cells against oxygen and glucose deprivation through inhibition of interleukins expression.

Death due to cerebral stroke afflicts a large number of neuronal populations, including glial cells depending on the brain region affected. Drugs with a wide cellular range of protection are needed to develop effective therapies for stroke. Human alpha 1-antitrypsin (hAAT) is a serine proteinase inhibitor with potent anti-inflammatory, anti-apoptotic and immunoregulatory activities. This study aimed to test whether hAAT can protect different kind of neurons and glial cells after the oxygen and glucose depri...

Retraction: The Immunoregulation Effect of Alpha 1-Antitrypsin Prolong β-Cell Survival after Transplantation.

NorUDCA promotes degradation of α1-antitrypsin mutant Z protein by inducing autophagy through AMPK/ULK1 pathway.

Alpha-1 Antitrypsin (α1AT) Deficiency is a genetic disease in which accumulation of α1AT mutant Z (α1ATZ) protein in the ER of hepatocytes causes chronic liver injury, liver fibrosis, and hepatocellular carcinoma. No effective medical therapy is currently available for the disease. We previously found that norUDCA improves the α1AT deficiency associated liver disease by promoting autophagic degradation of α1ATZ protein in liver in a mouse model of the disease. The current study unravels the novel under...

Heterozygosity for the Alpha-1-antitrypsin Z-Allele in Cirrhosis is associated with more advanced Disease.

Alpha-1-antitrypsin deficiency (A1ATD) due to homozygosity for the Z-allele (ZZ) is an established risk factor for cirrhosis, but the liver disease risk in heterozygous Z-allele carriers (MZ) is controversial. The aim of the present study was to determine the prevalence of the MZ genotype among patients with cirrhosis and the associated risk of decompensation and liver transplantation/mortality. An unselected cohort of 561 patients with cirrhosis and 248 deceased liver donors were genotyped for the A1ATD ri...

Ataluren, a New Therapeutic for Alpha-1 Antitrypsin Deficient Individuals with Nonsense Mutations.

Hetero-polymerization of α1-antitrypsin mutants in cell models mimicking heterozygosity.

The most common genotype associated with severe α1-antitrypsin deficiency (AATD) is the Z homozygote. The Z variant (Glu342Lys) of α1-antitrypsin (AAT) undergoes a conformational change and is retained within the endoplasmic reticulum (ER) of hepatocytes leading to the formation of ordered polymeric chains and inclusion bodies. Accumulation of mutated protein predisposes to cirrhosis whilst plasma AAT deficiency leads to emphysema. Increased risk of liver and lung disease has also been reported in heteroz...

Comparison of non-invasive assessment of liver fibrosis in patients with alpha1-antitrypsin deficiency using magnetic resonance elastography (MRE), acoustic radiation force impulse (ARFI) Quantification, and 2D-shear wave elastography (2D-SWE).

Although it has been known for decades that patients with alpha1-antitrypsin deficiency (AATD) have an increased risk of cirrhosis and hepatocellular carcinoma, limited data exist on non-invasive imaging-based methods for assessing liver fibrosis such as magnetic resonance elastography (MRE) and acoustic radiation force impulse (ARFI) quantification, and no data exist on 2D-shear wave elastography (2D-SWE). Therefore, the purpose of this study is to evaluate and compare the applicability of different elasto...

Alpha-1-antitrypsin ameliorates inflammation and neurodegeneration in the diabetic mouse retina.

Diabetic retinopathy (DR) is the most common cause of blindness in the working age population. Early events of DR are accompanied by neurodegeneration of the inner retina resulting in ganglion cell loss. These findings together with reduced retinal thickness are observed within the first weeks of experimental DR. Besides, an inflammatory process is triggered in DR in which the innate immune response plays a relevant role. Alpha 1 antitrypsin (AAT), an inhibitor of serine proteases, has shown anti-inflammato...

The Therapeutic Potential of Hyaluronan in COPD.

Insights into the clinical course in COPD indicate the need for new therapies in COPD. The discovery of alpha-1 antitrypsin deficiency (AATD) led to the protease-antiprotease imbalance hypothesis which was applied to COPD related and not related to AATD. The discovery of AATD brought recognition to the importance of elastin fibers in maintaining lung matrix structure. Two cross-linking amino acids are unique to mature elastin, desmosine and isodesmosine (DI), which can serve as biomarkers of the degradation...

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