Publications by authors named "M Krahn"
Article Synopsis
- Congenital titinopathies are inherited in an autosomal recessive pattern and primarily result from genetic variations in metatranscript (MTT)-only exons, leading to diverse clinical outcomes.
- The study analyzed 20 patients with these variants, revealing severe congenital myopathy at birth along with a wide range of associated issues like muscular weakness and respiratory problems.
- Findings underscore the importance of genotype-phenotype correlations, enhancing understanding of the genetic basis and molecular mechanisms behind these conditions.
Article Synopsis
- High-throughput sequencing has revealed "actionable genes" that are associated with diseases having specific treatments or care.
- Accurate genetic diagnosis is essential in starting interventions that can prevent or delay rare diseases, but increased analysis requests can delay results.
- A French study identified 63 actionable genes in myopathies, highlighting the potential for improved patient prognosis, yet many rare diseases still lack specific treatments, emphasizing the need for ongoing research.
The 25th Annual Western Canadian Gastrointestinal Cancer Consensus Conference (WCGCCC) was held in Winnipeg, Manitoba, on 26-27 October 2023. The WCGCCC is an interactive multidisciplinary conference that was attended by healthcare professionals from across Western Canada (British Columbia, Alberta, and Manitoba) who are involved in the care of patients with gastrointestinal cancer. Surgical, medical, and radiation oncologists; pathologists; oncology nurses; pharmacists; and a family physician in oncology (FPO) participated in presentation and discussion sessions for the purpose of developing the recommendations presented here.
View Article and Find Full Text PDFPurpose: A cross-sectional study was conducted to investigate the feasibility of implementing routine collection of the Euro-Qol 5 dimensions (EQ-5D) questionnaire, to inform drug and health technology reimbursement decision making.
Methods: Women with breast cancer were recruited during scheduled clinic visits to an academic cancer centre. EQ-5D-5L was self-administered using electronic tablets.