Publications by authors named "C A Kirk"
Background: An estimated 10-15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants, NM_000390.
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- A study analyzed childbirth outcomes in male adolescents and young adults (AYAs) with cancer, identifying a sample of nearly 43,000 cases over a 20-year period.
- The research found that 18% of these AYAs had live births within ten years post-diagnosis, with higher rates observed in those with thyroid cancer compared to gastrointestinal cancer.
- Results indicated increased chances of preterm birth and low birth weight among offspring of male AYAs with cancer, emphasizing the need for reproductive counseling for this group.
With advancing age, achievement of dietary adequacy for all nutrients is increasingly difficult and this is particularly so for minerals. Various factors impede mineral acquisition and absorption including reduced appetite, depressed gastric acid production and dysregulation across a range of signalling pathways in the intestinal mucosa. Minerals are required in sufficient levels since they are critical for the proper functioning of metabolic processes in cells and tissues, including energy metabolism, DNA and protein synthesis, immune function, mobility, and skeletal integrity.
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- Children born small or sick in rural Rwanda often lack proper follow-up care, which the Pediatric Development Clinics (PDC) aim to address by providing structured support after hospital discharge.
- The study compared the impact of PDC on children's health and development in two districts, using surveys and statistical analysis to measure outcomes such as survival and growth.
- Results showed that children attending PDC had lower mortality rates and developmental delays, along with reduced stunting, highlighting the importance of improving access to such clinics across Rwanda.
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- Trichomonas vaginalis (Tv) is a protozoan parasite that causes trichomoniasis, the most prevalent non-viral sexually transmitted infection globally, but current treatment options are limited and facing resistance issues.
- Researchers are targeting the proteasome, a key enzyme complex in eukaryotes, to develop new treatments by isolating the enzyme and identifying specific inhibitors for its three catalytic subunits (β1, β2, β5).
- By creating specialized substrates for each subunit and screening a library of inhibitors, the study found that targeting the Tv β5 subunit is particularly effective in killing the parasite, which may lead to improved drug development strategies against trichomoniasis.