Publications by authors named "Z Miedzybrodzka"
Introduction: Previous work demonstrated a prevalence of 14.6 per 100,000 manifest Huntington's disease (HD) patients and 8.3 per 100,000 identified pre-symptomatic gene expansion carriers (IPGEC) in Northern Scotland.
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- The study focuses on assessing breast and ovarian cancer risks in the isolated populations of Orkney and Shetland, particularly through identifying genetic variants in the BRCA1 and BRCA2 genes.
- A specific BRCA2 variant (c.517-2A>G) was found to have a significantly higher frequency among individuals with Shetland ancestry, indicating a strong link with breast and ovarian cancer cases in these families.
- The researchers emphasize the potential for targeted genetic screening for this variant in women of Orcadian and Shetlandic descent, as most pathogenic BRCA variants in the region are due to this and another related variant.
Article Synopsis
- - The DEBIOC trial explored the safety and efficacy of neoadjuvant treatment using oxaliplatin and capecitabine (Xelox) with or without AZD8931 in patients with oesophageal adenocarcinoma, showing moderate safety but limited effectiveness.
- - Researchers analyzed genetic data from 25 pre-treatment and 18 post-treatment biopsy samples to examine how these treatments influenced biological pathways related to cancer through advanced software tools.
- - Their findings identified three molecular subgroups linked to immune response, with treatment affecting immune signaling and tumor-infiltrating lymphocytes, while the addition of AZD8931 promoted a less favorable immunosuppressive environment and common cancer resistance mechanisms.
Aims: This study aims to evaluate the cost effectiveness of genetic and genomic testing strategies for the diagnosis of rare developmental disorders in NHS Scotland.
Methods: Six genetic and genomic testing strategies were evaluated using a decision tree model. First-line, second-line and last-resort trio genome sequencing (GS), and second-line and last-resort trio exome sequencing (ES) were compared with standard genetic testing.
This scoping review aimed to synthesize the analytical techniques used and methodological limitations encountered when undertaking secondary research using residual neonatal dried blood spot (DBS) samples. Studies that used residual neonatal DBS samples for secondary research (i.e.
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