Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.

Background: MUC1 and UMOD pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). MUC1 is expressed in kidney, nasal mucosa and respiratory tract, while UMOD is expressed only in kidney. Due to haplo-insufficiency ADTKD-MUC1 patients produce approximately 50% of normal mucin-1.

A Novel Monoallelic Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

Introduction: Monoallelic variants in the gene encoding asparagine-linked glycosylation protein 5 homolog (ALG5) have been recently shown to disrupt polycystin-1 (PC1) maturation and trafficking via underglycosylation, causing an autosomal dominant polycystic kidney disease-like (ADPKD-like) phenotype and interstitial fibrosis. In this report, we present clinical, genetic, histopathologic, and protein structure and functional correlates of a new ALG5 variant, p.R79W, that we identified in 2 distant genetically related Irish families displaying an atypical late-onset ADPKD phenotype combined with tubulointerstitial damage.

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations: An Observational Study.

Background: and pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). is expressed in kidney, nasal mucosa and respiratory tract, while is expressed only in kidney. Due to haplo-insufficiency ADTKD- patients produce approximately 50% of normal mucin-1.

Emergency medicine pharmacotherapy compromises accuracy of plasma creatinine determination by enzyme-based methods: real-world clinical evidence and implications for clinical practice.

Background: Assessment of kidney function in emergency settings is essential across all medical subspecialties. Daily assessment of patient creatinine results from emergency medical services showed that some deviated from expected values, implying drug-related interference.

Methods: Real-time clinical evaluation of an enzyme method (Roche CREP2) in comparison with the Jaffé gen.

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022.

The inability to predict the evolution of the COVID-19 epidemic hampered abilities to respond to the crisis effectively. The cycle threshold (Ct) from the standard SARS-CoV-2 quantitative reverse transcription-PCR (RT-qPCR) clinical assay is inversely proportional to the amount of SARS-CoV-2 RNA in the sample. We were interested to see if population Ct values could predict future increases in COVID-19 cases as well as subgroups that would be more likely to be affected.

Homocysteine: exploring its potential as a pharmacodynamic biomarker of antifolate chemotherapy.

For decades it has been well known that elevated levels of homocysteine are harmful to humans on the basis of clinical observations derived from classical model diseases, such as inherited metabolic disorders. This group of diseases includes classical homocystinuria and several other inherited diseases affecting the so-called 'transsulfuration pathways'. Homocysteine lies in a metabolic checkpoint that interconnects one-carbon-transferring reactions with metabolism of sulfur-containing amino acids, since every molecule of 5-methyltetrahydrofolate derived either from plasma or generated from other folate species must be demethylated to liberate the reduced tetrahydrofolate.