Labile HbA1c migrates in the #C fraction with modified hemoglobin (Hb) (such as carbamylated Hb, acetaldehyde Hb, and acetylated Hb) when HbA1c is measured by Arkray's high-performance liquid chromatography (HPLC). We previously reported the usefulness of #C levels for the screening of variant Hb without diabetes mellitus. Because the #C levels are affected by plasma glucose levels, we investigated the usefulness of plasma glucose adjusted #C (PGa#C) for the screening of variant Hb complicated with diabetes mellitus. In this study, nine types of variant Hb in nine diabetic patients were included. HbA1c and the #C fraction were measured by Arkray's HPLC. Furthermore, we established a calculation formula for PGa#C by using the regression equation of #C and plasma glucose of 2,299 diabetic patients without variant Hb. If the cutoff value of PGa#C for the screening of variant Hb with diabetes mellitus was set at 1.3% or lower and 2.3% or higher, sensitivity and specificity were 89% and 99.8%, respectively. The PGa#C levels in all four slow moving variant Hb with diabetes were less than 1.3%, while the PGa#C levels of fast moving variant Hb with diabetes were abnormal values in four out of five patients [high #C level in one and low #C levels in three patients]. The screening of variant Hb with diabetes with high sensitivity and high specificity was possible by using the same cutoff values for the reference range of PGa#C as the #C values reported in non-diabetic subjects.

Download full-text PDF

Source

Publication Analysis

Top Keywords

screening variant
20
variant diabetes
20
plasma glucose
16
diabetes mellitus
16
variant
9
glucose adjusted
8
labile hba1c
8
hba1c fraction
8
levels screening
8
measured arkray's
8

Similar Publications

A conifer metabolite corrects episodic ataxia type 1 by voltage sensor-mediated ligand activation of Kv1.1.

Proc Natl Acad Sci U S A

January 2025

Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, CA 92697.

Loss-of-function sequence variants in , which encodes the voltage-gated potassium channel Kv1.1, cause Episodic Ataxia Type 1 (EA1) and epilepsy. Due to a paucity of drugs that directly rescue mutant Kv1.

View Article and Find Full Text PDF

Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.

View Article and Find Full Text PDF

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

View Article and Find Full Text PDF

[Eosinophilic esophagitis].

Inn Med (Heidelb)

January 2025

Service de gastro-entérologie et d'hepatologie, Centre hospitalier universitaire vaudois (CHUV), Lausanne, Schweiz.

Eosinophilic esophagitis (EoE) was first described in the early 1990s. Initially a rarity, it is now the most common cause of dysphagia for solid foods in young adults. Its prevalence is estimated to be 1:2000.

View Article and Find Full Text PDF

Inflammatory bowel disease (IBD) with the two predominant endophenotypes-Crohn's disease (CD) and ulcerative colitis (UC)-represents a group of chronic gastrointestinal inflammatory conditions. Since most genetic associations with IBD are often limited to independent subtypes, we reported a genome-wide association study (GWAS) cross-trait analysis combined with CD and UC to enhance statistical power. Initially, we detected 256 association signals at 54 genomic susceptibility loci and further characterized the functionality of variants within these regions.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!