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Alcohol consumption and liver phenotype of individuals with alpha-1 antitrypsin deficiency.
Liver Int
October 2024
Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.
Background And Aims: Alpha-1 antitrypsin deficiency is an inherited disorder caused by alpha-1 antitrypsin (AAT) mutations. We analysed the association between alcohol intake and liver-related parameters in individuals with the heterozygous/homozygous Pi*Z AAT variant (Pi*MZ/Pi*ZZ genotype) found in the United Kingdom Biobank and the European Alpha1 liver consortium.
Methods: Reported alcohol consumption was evaluated in two cohorts: (i) the community-based United Kingdom Biobank (17 145 Pi*MZ, 141 Pi*ZZ subjects, and 425 002 non-carriers [Pi*MM]); and (ii) the European Alpha1 liver consortium (561 Pi*ZZ individuals).
Identification of Alcohol Use Prior to Major Cancer Surgery: Timeline Follow Back Interview Compared to Four Other Markers.
Cancers (Basel)
June 2024
National Institute of Public Health, University of Southern Denmark, 1455 Copenhagen, Denmark.
Background: The postoperative complication rate is 30-64% among patients undergoing muscle-invasive and recurrent high-risk non-muscle-invasive bladder cancer surgery. Preoperative risky alcohol use increases the risk. The aim was to evaluate the accuracy of markers for identifying preoperative risky alcohol.
View Article and Find Full Text PDFA complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
JCI Insight
April 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Article Synopsis
- Diagnosis of PMM2-CDG, a common congenital disorder, traditionally involves carbohydrate-deficient transferrin testing and genetic analysis, but current tests can yield false negatives and might normalize as patients age.
- In this study, researchers used advanced mass spectrometry to analyze serum samples from 72 patients, uncovering specific changes in N-glycoproteins that could indicate the disorder more accurately than current testing methods.
- A notable finding was the presence of a unique glycopeptide from complement C4 in patients that had normal CDT results, suggesting it could serve as a more sensitive and reliable biomarker for diagnosing and monitoring PMM2-CDG.
Comparative analysis between CDT in serum and Ethyl glucuronide in hair to define the best reliable tool for the diagnosis of alcohol abuse.
Drug Alcohol Depend
April 2024
Forensic Medicine and Laboratory (For. Med. Lab), Institute of Legal Medicine, University of Macerata, Via Don Minzoni 9, Macerata 62100, Italy. Electronic address:
The increase in alcohol consumption in society has not only led to a number of medical issues but has also become a matter of considerable legal importance. Thus, there is both scientific interest and the necessity to diagnose alcohol abuse in the application of the provisions of the law through laboratory tests that ensure maximum objectivity. The purpose of this work is to study and compare the diagnostic performance of two of the main markers of alcohol abuse, serum carbohydrate-deficient transferrin (CDT) and Ethyl glucuronide (EtG) in a group of 336 driving under the influence (DUI) of alcohol offenders.
View Article and Find Full Text PDFDefining trimester-specific reference intervals for carbohydrate deficient transferrin in pregnant women.
Clin Chim Acta
February 2024
Department of Clinical Chemistry and Hematology, Meander Medical Centre, Amersfoort, the Netherlands.
Objectives: Extensive consumption of alcohol during pregnancy can lead to severe complications for the unborn child. Carbohydrate-deficient transferrin (CDT) levels in serum have become a common biomarker for excessive alcohol intake. However, during pregnancy CDT levels can rise to levels above commonly used cut-off values, for reasons unrelated to alcohol intake.
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