Publications by authors named "C Huff"
Integrating genome-wide association study (GWAS) and transcriptomic datasets can help identify potential mediators for germline genetic risk of cancer. However, traditional methods have been largely unsuccessful because of an overreliance on total gene expression. These approaches overlook alternative splicing, which can produce multiple isoforms from the same gene, each with potentially different effects on cancer risk.
View Article and Find Full Text PDFObjective: The objective of this study is to identify the top 10 research priorities on reducing and stopping psychiatric medication that reflect the perspectives and unmet needs of three key stakeholder groups (people with lived experience, family members/carers/supporters and healthcare professionals).
Methods: A priority-setting partnership was conducted using the James Lind Alliance's seven-step process. This involved (1) creating an international Steering Group of key stakeholder representatives and (2) identifying potential partners; (3) gathering stakeholders' uncertainties about reducing and stopping psychiatric medication using an online survey and summarising the survey responses; (4) checking the summary questions against existing evidence and verifying uncertainties; (5) shortlisting the questions using a second online survey; (6) determining the top 10 research questions through a prioritisation workshop; and (7) disseminating the results.
Article Synopsis
- Endometrial biopsy is a key tool for screening endometrial cancer, helping to rule it out before procedures like a hysterectomy.
- A 37-year-old woman with pelvic pain and irregular bleeding had a benign biopsy but was later diagnosed with grade 2 invasive endometrial adenocarcinoma after her total hysterectomy.
- The case highlights that, while benign hyperplasia without atypia has a low risk of developing into cancer, incidental malignant findings after surgery can have serious health implications.
Hormone therapy (HT) to treat prostate cancer is reported to cause adverse changes in body composition. Clinically, interpatient body composition changes are heterogeneous, but the biological and clinical determinants of body composition toxicity are unknown. Herein, we test the hypothesis that inherited polymorphisms in steroidogenic genes are associated with differential changes in body composition after HT.
View Article and Find Full Text PDFArticle Synopsis
- Rare genetic diseases like Type 5 Long QT Syndrome (LQT5) are often underdiagnosed due to limited studies in referral populations, leading to skewed insights into these conditions.
- A new method was developed to identify undiagnosed LQT5 carriers in a broader population, leading to the discovery of 22 additional individuals sharing a specific genetic variant linked to LQT5.
- The analysis revealed that both referred and non-referred carriers have a prolonged QT interval, and a specific polygenic score can predict QT prolongation among those with the variant, enhancing the understanding of LQT5's impact.