Publications by authors named "V Robins"
Article Synopsis
- MUC1 and UMOD pathogenic variants are linked to autosomal dominant tubulointerstitial kidney disease (ADTKD), with MUC1 associated with a significant reduction in mucin-1 production.
- A survey conducted among ADTKD patients revealed that those with ADTKD-MUC1 had a higher rate of previous COVID-19 infections and COVID-related deaths compared to ADTKD-UMOD individuals.
- The study concluded that individuals with ADTKD-MUC1 are eight times more likely to die from COVID-19, suggesting that lower mucin-1 levels may contribute to this increased risk.
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.
View Article and Find Full Text PDFPurpose: This systematic review aims to explore the impact of age on physical functioning post-treatment for early-stage, locally advanced, or locally recurrent breast cancer, as measured by patient-reported outcome measures (PROMs), identify PROMs used and variations in physical functioning terms/labels.
Methods: MEDLINE, EmBase, PsycINFO, CINAHL and AMED were searched, along with relevant key journals and reference lists. Risk of bias (quality) assessment was conducted using a Critical Appraisal Skills Programme checklist.
Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to have autosomal dominant medullary amyloidosis due to two different pathogenic APOA4 variants. A large family with autosomal dominant chronic kidney disease (CKD) and bland urinary sediment underwent whole genome sequencing with identification of a chr11:116692578 G>C (hg19) variant encoding the missense mutation p.
View Article and Find Full Text PDFArticle Synopsis
- ADTKD is a genetic condition linked to chronic kidney disease, but its effects on pregnancy were previously unknown.
- A survey involved 85 women with ADTKD and 23 control women, revealing that few knew about their condition during pregnancy, and highlighting differences in hypertension and preterm births compared to controls.
- Overall, ADTKD pregnancies showed lower hypertension rates than those with other chronic kidney diseases, leading to better health outcomes for mothers and babies.