Results 71 to 80 of about 12,377 (185)

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency

open access: yesPulmonology, 2018
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several
A.P. Lopes   +22 more
doaj   +1 more source

Multi‐omics biomarkers for intestinal infection and inflammation in inflammatory bowel disease: Current evidence, translational challenges, and diagnostic opportunities

open access: yesInterdisciplinary Medicine, Volume 4, Issue 4, July 2026.
Prospective multi‐site cohorts, multi‐omics profiling, and computational analysis may help identify biomarker patterns across clinical settings in IBD and superimposed infections. With further mechanistic and clinical validation, these signals could support the development of practical multi‐analyte tools for more precise diagnosis and management ...
Ziyu Yang   +7 more
wiley   +1 more source

Mass Spectrometry Structural Proteomics Enabled by Limited Proteolysis and Cross‐Linking

open access: yesMass Spectrometry Reviews, Volume 45, Issue 4, Page 644-671, July/August 2026.
ABSTRACT The exploration of protein structure and function stands at the forefront of life science and represents an ever‐expanding focus in the development of proteomics. As mass spectrometry (MS) offers readout of protein conformational changes at both the protein and peptide levels, MS‐based structural proteomics is making significant strides in the
Haiyan Lu   +4 more
wiley   +1 more source

Fecal Proteomics Suggest Potential Biomarkers for Non‐Alcoholic Fatty Liver Disease and Steatohepatitis

open access: yesPROTEOMICS – Clinical Applications, Volume 20, Issue 4, July 2026.
ABSTRACT Background and aims Non‐alcoholic Fatty Liver Disease (NAFLD) affects about a quarter of the world's population. Liver biopsy remains the gold standard for diagnosing the progressive form of NAFLD called Non‐alcoholic Steatohepatitis (NASH) but it is invasive, prone to sampling errors and observer variability, and impractical for widespread ...
Anna Negroni   +5 more
wiley   +1 more source

Migraine Causality in Alpha-1 Antitrypsin Deficiency

open access: yesDüzce Tıp Fakültesi Dergisi
Alpha1-antitrypsin (A1AT) is an anti-inflammatory mediator with antiprotease activity associated with anti-inflammatory and immunomodulatory effects in various inflammatory conditions.
Esra Demir Unal
doaj   +1 more source

Coexistence of Multiple Endocrine Neoplasia Type 2B and Centri‐Acinar Emphysema With Alpha‐1 Antitrypsin Deficiency: A Case Report

open access: yesRespirology Case Reports, Volume 14, Issue 7, July 2026.
We report on a 32‐year‐old female patient with a very rare coexistence of alpha‐1 antitrypsin deficiency (AATD) and multiple endocrine neoplasia type 2B (MEN2B). Both conditions can affect breathing and may hide each other's symptoms, leading to delayed diagnosis.
Mohammad Javad Mohammadifard   +2 more
wiley   +1 more source

Affinity Proteomics‐Based Non‐Invasive Detection of Clinically Significant Liver Disease

open access: yesAlimentary Pharmacology &Therapeutics, Volume 64, Issue 1, Page 74-88, July 2026.
Using UK Biobank proteomic data, we identified a five‐protein score reflecting hepatic stellate cell activation and hepatocellular injury that predicts major adverse liver outcomes and clinically significant fibrosis, with consistent performance validated in two independent cohorts (patients with HIV and alpha1‐antitrypsin deficiency).
Sriram Balasubramani   +14 more
wiley   +1 more source

Alpha-1 antitrypsin deficiency-associated panniculitis: a case report

open access: yesZdravniški Vestnik
Alpha-1 antitrypsin deficiency is a hereditary disorder with predominantly pulmonary but also extrapulmonary manifestations. In the skin, it is associated with panniculitis, a necrotizing neutrophilic inflammation in the subcutis. Clinically, it presents
Špela But   +2 more
doaj   +1 more source

Diagnostic Impact of Liver Biopsy Among Antinuclear Antibody Positive Individuals With Mild Liver Enzyme Elevation

open access: yesAlimentary Pharmacology &Therapeutics, Volume 64, Issue 1, Page 103-111, July 2026.
In ANA‐positive patients with suspected autoimmune hepatitis (AIH), liver biopsy rarely altered therapeutic management when alanine aminotransferase (ALT) was below 101 U/L and cirrhosis was absent. These findings suggest that biopsy may be safely deferred in this low‐risk group.
David Mehdi Asgher Niazi   +8 more
wiley   +1 more source

From the Proteome to Therapeutics: A Multi‐Database Approach to Drug Discovery in Periodontitis—An Exploratory Pilot Study

open access: yesJournal of Clinical Periodontology, Volume 53, Issue 7, Page 990-1004, July 2026.
ABSTRACT Introduction This explanatory pilot study presents a workflow to identify approved drugs, which could be repurposed for periodontitis therapy using salivary proteomics combined with drug‐target database screening. Methods Proteomic analyses of saliva using LC–MS/MS were conducted in two independent settings: a cohort (sub‐study I, N = 187) and
Taisir Bozo   +11 more
wiley   +1 more source

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