Publications by authors named "M Kaczmarek-Rys"
Article Synopsis
- Colorectal cancer (CRC) is a common and deadly cancer type with varied prevalence across different populations, with most cases lacking clear genetic causes.
- The research on genetic factors associated with low risk for CRC has produced inconsistent results, leading to confusion in the field, prompting the authors to consolidate existing knowledge and identify specific genetic markers related to cancer risk.
- There's a call for large-scale testing of low-penetrance genetic variants, emphasizing the need for collaboration among various stakeholders, including healthcare professionals and policymakers, to prioritize CRC research despite potential costs.
Purpose: Differentiated thyroid cancer (DTC) presents a complex clinical challenge, especially in patients with distant metastases and resistance to standard treatments. This study aimed to investigate the influence of specific genes and their germline single nucleotide polymorphisms (SNPs) linked to both inflammatory processes and other neoplasms on the clinical and pathological characteristics of DTC, particularly their potential impact on radioiodine (RAI) treatment efficacy.
Methods: This retrospective analysis involved a cohort of 646 patients diagnosed with DTC after thyroidectomy.
Article Synopsis
- Multiple polyposes are complex diseases characterized by the development of cancerous intestinal polyps, with a focus on identifying genetic mutations affecting risk, particularly in Polish patients.
- Researchers studied the p.Q82* mutation in 644 polyposis patients and 634 controls, finding the variant present in some patients, indicating a potential association with increased colorectal cancer risk.
- The study highlights the need for further genetic screening, especially for patients with the homozygous p.Q82* variant, as it appeared more frequently in patients without other identified mutations, suggesting it could be an important marker.
Article Synopsis
- Lower bone mineral density (BMD) is commonly found in inflammatory bowel disease (IBD) patients, and this study focused on the effects of folic acid levels and MTHFR gene polymorphism on BMD in Crohn's disease (CD) and ulcerative colitis (UC) patients compared to healthy controls.
- The analysis showed that IBD patients had significantly lower BMD, T-scores, and Z-scores in both the lumbar spine and femoral neck than the control group, indicating a higher risk for low BMD.
- Although no notable differences in folic acid levels were found between groups, the study suggested that certain MTHFR gene polymorphisms might influence bone density in IBD patients,
Introduction: One of the challenges of personalized medicine is a departure from traditional pharmacology toward individualized, genotype-based therapies. Postmenopausal osteoporosis is a prevalent condition requiring intensive treatment, whose effects are measurable only after a long time, and the goal is bone fracture prevention. This study aimed to determine the influence of gene variation on anti-osteoporotic one-year treatment with denosumab in 63 Polish women with postmenopausal osteoporosis.
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