Search results for "alpha 1-Antitrypsin"

showing 10 items of 41 documents

Dual proteotoxic stress accelerates liver injury via activation of p62‐Nrf2

2021

Protein accumulation is the hallmark of various neuronal, muscular, and other human disorders. It is also often seen in the liver as a major protein-secretory organ. For example, aggregation of mutated alpha1-antitrypsin (AAT), referred to as PiZ, is a characteristic feature of AAT deficiency, whereas retention of hepatitis B surface protein (HBs) is found in chronic hepatitis B (CHB) infection. We investigated the interaction of both proteotoxic stresses in humans and mice. Animals overexpressing both PiZ and HBs (HBs-PiZ mice) had greater liver injury, steatosis, and fibrosis. Later they exhibited higher hepatocellular carcinoma load and a more aggressive tumor subtype. Although PiZ and H…

0301 basic medicineCirrhosisNF-E2-Related Factor 2medicine.disease_causePathology and Forensic MedicineMice03 medical and health sciences0302 clinical medicineSDG 3 - Good Health and Well-beingStress PhysiologicalFibrosisSequestosome-1 ProteinmedicineAnimalsHumansLiver injuryHepatitis B Surface Antigensbusiness.industryLiver DiseasesAutophagyHepatitis Bmedicine.diseasedigestive system diseasesaggregate Hepatitis B Surface Antigens Humans Liver Diseases Mice NF-E2-Related Factor 2 Sequestosome-1 Protein Stress Physiological alpha 1-Antitrypsin cirrhosis inclusionlipophagy oxidative stress SERPINA1 Animals030104 developmental biologyalpha 1-Antitrypsin030220 oncology & carcinogenesisHepatocellular carcinomaCancer researchSteatosisbusinessOxidative stressThe Journal of Pathology
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Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis.

2018

ObjectiveHomozygous alpha1-antitrypsin (AAT) deficiency increases the risk for developing cirrhosis, whereas the relevance of heterozygous carriage remains unclear. Hence, we evaluated the impact of the two most relevant AAT variants (‘Pi*Z’ and ‘Pi*S’), present in up to 10% of Caucasians, on subjects with non-alcoholic fatty liver disease (NAFLD) or alcohol misuse.DesignWe analysed multicentric case–control cohorts consisting of 1184 people with biopsy-proven NAFLD and of 2462 people with chronic alcohol misuse, both cohorts comprising cases with cirrhosis and controls without cirrhosis. Genotyping for the Pi*Z and Pi*S variants was performed.ResultsThe Pi*Z variant presented in 13.8% of p…

0301 basic medicineMalemedicine.medical_specialtyHeterozygoteCirrhosisMedizinSingle-nucleotide polymorphismDiseaseGastroenterologyPolymorphism Single NucleotideRisk Assessment03 medical and health sciences0302 clinical medicineAge DistributionLiver Cirrhosis AlcoholicNon-alcoholic Fatty Liver DiseaseInternal medicineGermanymedicinePiConfidence IntervalsOdds RatioHumansGenetic Predisposition to DiseaseRisk factorSex DistributionGenotypingLiver injurybusiness.industryGenetic Carrier ScreeningIncidenceFatty liverBiopsy NeedleGastroenterologyGenetic Variationmedicine.diseasePrognosisImmunohistochemistry030104 developmental biologyAustriaCase-Control Studiesalpha 1-Antitrypsin030211 gastroenterology & hepatologyFemalebusinessGut
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Oxidative Stress and Endoplasmic Reticulum Stress in Rare Respiratory Diseases

2021

Several studies have shown that some rare respiratory diseases, such as alpha-1 antitrypsin deficiency (AATD), idiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF), and primary ciliary dyskinesia (PCD) present oxidative stress (OS) and endoplasmic reticulum (ER) stress. Their involvement in these pathologies and the use of antioxidants as therapeutic agents to minimize the effects of OS are discussed in this review.

0301 basic medicinePathologymedicine.medical_specialtylcsh:Medicineprimary ciliary dyskinesiaReviewrare respiratory diseasesmedicine.disease_causeCystic fibrosiscystic fibrosis03 medical and health sciencesIdiopathic pulmonary fibrosis0302 clinical medicineotorhinolaryngologic diseasesmedicineoxidative stressRespiratory systemPrimary ciliary dyskinesiaAlpha 1-antitrypsin deficiencybusiness.industryEndoplasmic reticulumlcsh:RGeneral Medicineidiopathic pulmonary fibrosismedicine.diseaserespiratory tract diseases030104 developmental biologyAlpha-1 antitrypsin deficiency030220 oncology & carcinogenesisendoplasmic reticulum stressantioxidant therapiesbusinessOxidative stressJournal of Clinical Medicine
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Accelerated telomere attrition in children and teenagers with α1-antitrypsin deficiency.

2016

Numerous studies have shown that oxidative stress accelerates telomere shortening in several lung pathologies. Since oxidative stress is involved in the pathophysiology of α1-antitrypsin deficiency (AATD), we hypothesised that telomere shortening would be accelerated in AATD patients. This study aimed to assess telomere length in AATD patients and to study its association with α1-antitrypsin phenotypes.Telomere length, telomerase activity, telomerase reverse transcriptase (hTERT) expression and biomarkers of oxidative stress were measured in 62 children and teenagers (aged 2–18 years) diagnosed with AATD and 18 controls (aged 3–16 years).Our results show that intermediate-risk (MZ; SZ) and …

0301 basic medicinePulmonary and Respiratory MedicineOncologyMalemedicine.medical_specialtyTelomeraseAdolescentmedicine.disease_causeBody Mass Index03 medical and health sciencesInternal medicinealpha 1-Antitrypsin DeficiencymedicineHumansTelomerase reverse transcriptaseChildLungTelomeraseTelomere ShorteningAlpha 1-antitrypsin deficiencybusiness.industryCase-control studyTelomeremedicine.diseaseMolecular biologyPathophysiologyTelomereOxidative Stress030104 developmental biologyPhenotypeSpirometryCase-Control StudiesChild PreschoolBiomarker (medicine)FemalebusinessOxidative stress
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Liver cirrhosis associated with heterozygous alpha-1-antitrypsin deficiency type Pi MS and autoimmune features.

1995

Patients with homozygous protease inhibitor (Pi) type ZZ or a few rare M-like types may develop liver cirrhosis due to intracellular storage of alpha-antitrypsin (AAT), whereas some patients with heterozygous Pi MZ or SZ normally present with transient abnormal liver function tests in childhood. We report a 42-year-old obese patient who developed liver cirrhosis in association with heterozygous Pi MS (AAT) deficiency. Immunohistological and electron microscope examination showed storage of AAT in the hepatocytes. Interestingly, autoimmune features in this patient suggest that abnormal immune responses may contribute to the pathology of chronic liver disease.

AdultLiver CirrhosisMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyHeterozygoteCirrhosisT-LymphocytesAlpha (ethology)medicine.disease_causeAutoimmunityAutoimmune DiseasesImmunoenzyme TechniquesInternal medicinealpha 1-Antitrypsin DeficiencyPiMedicineHumansProtease inhibitor (pharmacology)ObesityAutoimmune diseaseAlpha 1-antitrypsin deficiencybusiness.industryGastroenterologymedicine.diseaseTrypsin deficiencyFlow CytometryAlcoholismMicroscopy ElectronEndocrinologyPhenotypeLiveralpha 1-AntitrypsinCytokinesbusinessDigestion
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Replacement therapy for alpha-1-protease inhibitor deficiency in PiZ subjects with chronic obstructive lung disease

1988

In a six-month multicenter feasibility and safety study, 20 patients, who all had a congenital deficiency of alpha-1-protease inhibitor (A1PI) of the PiZ phenotype accompanied by a chronic obstructive lung disease, were treated with human-plasma-derived A1PI. A weekly dose of 60 mg/kg, administered intravenously, was shown to be sufficient to maintain patient serum levels above the threshold limit of 35 percent, the serum level of healthy persons of the MZ phenotype. This is supposed to be the minimal effective level for protection against the elastolytic attack of the lung and, therefore, satisfies one of the most important criteria of feasibility of long-term replacement therapy. The glob…

AdultMalealpha 1-Antitrypsin DeficiencymedicineHumansLung Diseases ObstructiveInfusions IntravenousAgedRadial immunodiffusionClinical Trials as TopicLungPancreatic Elastasebiologybusiness.industryBlood ProteinsGeneral MedicineMiddle AgedOuchterlony double immunodiffusionTrypsinmedicine.diseaseAlpha-1 Protease Inhibitor DeficiencyObstructive lung diseasePhenotypemedicine.anatomical_structureImmunologybiology.proteinFemaleAntibodyLung Volume MeasurementsbusinessNephelometrymedicine.drugThe American Journal of Medicine
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Antiinflammatory treatment and intestinal alpha 1-antitrypsin clearance in active Crohn's disease.

1985

Intestinal alpha 1-antitrypsin clearance was quantified in 17 patients with clinically active Crohn's disease before and after a six-week period of treatment with sulfasalazine and methylprednisolone. Before the study, alpha 1-antitrypsin clearance and, hence, enteric protein loss was elevated as being above control values in 16 patients. After therapy, clearance values decreased in 11 and were normalized in five patients. Serum albumin level was normalized in 11 of 12 patients who had hypoalbuminemia before the study. Clinical condition was improved in all but 1 patient after treatment. There was no close correlation between alpha 1-antitrypsin clearance and disease activity index. These r…

AdultMalemedicine.medical_specialtyPathologyAdolescentPhysiologyProtein-Losing EnteropathiesSerum albuminAnti-Inflammatory AgentsGastroenterologyMethylprednisoloneFecesCrohn DiseaseSulfasalazineInternal medicinemedicineHumansHypoalbuminemiaIntestinal MucosaSerum AlbuminCrohn's diseasebiologybusiness.industryProtein losing enteropathyGastroenterologyAlbuminHepatologyMiddle Agedmedicine.diseasedigestive system diseasesSulfasalazineMethylprednisolonealpha 1-Antitrypsinbiology.proteinFemalebusinessmedicine.drugDigestive diseases and sciences
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Impact of Different Texture of Polypropylene Mesh on the Inflammatory Response

2008

Over the past decade, hernia surgery has undergone a considerable transformation with the use of prosthetic materials. The most used polypropylene meshes induce a rapid acute inflammatory response followed by chronic foreign body reaction. Many factors influence this response such as density, size, physical characteristics, different texture and porosity of each biomaterial. The aim of this study is to assess whether the implant of monofilament or multifilament meshes, in the inguinal hernioplasty, determine a different inflammatory response. Thirty-two male patients were included in the study and were randomly divided into two groups. In the first group (MO) inguinal hernioplasty was perf…

AdultMalemedicine.medical_specialtymedicine.medical_treatmentImmunologyUrologyHernia InguinalPolypropylenesProsthesisLeukocyte CountBasal (phylogenetics)medicineHumansImmunology and AllergyHerniaInflammationPharmacologyPain Postoperativebusiness.industryForeign-Body ReactionInterleukinVenous bloodMiddle AgedSurgical Meshmedicine.diseasePeripheralC-Reactive ProteinCytokinealpha 1-AntitrypsinCytokinesImplantbusinessInternational Journal of Immunopathology and Pharmacology
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Tension-free hernia repair is associated with an increase in inflammatory response markers against the mesh.

2000

Abstract Background: The purpose of this study was to evaluate the involvement of inflammatory mediators in patients undergoing Lichtenstein tension-free hernioplasty (LH) using polypropylene prosthetic materials or conventional Bassini hernia repair (BH). Methods: Thirty patients male with unilateral inguinal hernia without complications or recurrence were included in this study. Randomly, patients underwent LH or BH. Peripheral venous bloods samples were collected 24 hours prior to surgery and then 6, 24, 48 and 168 hours postoperatively. Results: We present evidences that LH patients showed a higher increased serum level of fibrinogen, C-reactive protein, alpha-1-antitrypsin, and interle…

AdultMalemedicine.medical_treatmentInflammationHernia InguinalFibrinogenPolypropylenesProsthesis ImplantationLeukocyte CountPostoperative ComplicationsMedicineHumansHerniaPostoperative PeriodInflammationbiologybusiness.industryInterleukin-6Foreign-Body ReactionAlbuminFibrinogenGeneral MedicineMiddle AgedSurgical Meshmedicine.diseaseHernia repairPeripheralmedicine.anatomical_structureC-Reactive ProteinAnesthesiaalpha 1-Antitrypsinbiology.proteinAbdomenSurgerymedicine.symptombusinessCeruloplasminmedicine.drugAmerican journal of surgery
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Increased Levels of Elastase and α1-Antitrypsin in Sputum of Asthmatic Patients

1998

Asthma and chronic bronchitis are inflammatory diseases associated with remodeling of the extracellular matrix (ECM). Elastin, a major component of the ECM in the airways, has been previously found to be disrupted in asthma and chronic bronchitis. This study was aimed at evaluating whether elastin disruption might be associated with an imbalance between elastase (active and total) and alpha1-proteinase inhibitor (alpha1-PI), the main inhibitor of elastase. We measured elastase and alpha1-PI in induced sputum obtained from 16 control subjects, 10 healthy smokers, 19 asthmatic patients, and 10 chronic bronchitis patients. We also assessed the possible origin of elastase, evaluating its levels…

AdultPulmonary and Respiratory MedicineChronic bronchitisCell CountCritical Care and Intensive Care MedicinePathogenesisReference ValuesForced Expiratory VolumemedicineHumansBronchitisSalivaSerum AlbuminAgedAsthmaPancreatic Elastasebiologybusiness.industrySmokingElastaseRespiratory diseaseSputumMiddle Agedmedicine.diseaseAsthmarespiratory tract diseasesalpha 1-AntitrypsinChronic DiseaseImmunologybiology.proteinSputumBronchitismedicine.symptombusinessElastinAmerican Journal of Respiratory and Critical Care Medicine
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