Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility

<p>Abstract</p> <p>Background</p> <p>CYP1B1 is a P450 enzyme which is involved in the activation of pro-carcinogens to carcinogens as well as sex hormone metabolism. Because differences in the activity of the enzyme have been correlated with variant alleles of single nucleotide polymorphisms (SNPs), it represents an attractive candidate gene for studies into colorectal cancer susceptibility.</p> <p>Methods</p> <p>We genotyped 597 cancer patients and 597controls for three CYP1B1 SNPs, which have previously been shown to be associated with altered enzymatic activity. Using the three SNPs, eight different haplotypes were constructed. The haplotype frequencies were estimated in cases and controls and then compared. The odds ratio for each tumour type, associated with each haplotype was estimated, with reference to the most common haplotype observed in the controls.</p> <p>Results</p> <p>The three SNPs rs10012, rs1056827 and rs1056836 alone did not provide any significant evidence of association with colorectal cancer risk. Haplotypes of rs1056827 and rs10012 or rs1056827 and rs1056836 revealed an association with colorectal cancer which was significantly stronger in the homozygous carriers. One haplotype was under represented in the colorectal cancer patient group compared to the control population suggesting a protective effect.</p> <p>Conclusion</p> <p>Genetic variants within the CYP1B1 that are associated with altered function appear to influence susceptibility to a colorectal cancer in Poland. Three haplotypes were associated with altered cancer risk; one conferred protection and two were associated with an increased risk of disease. These observations should be confirmed in other populations.</p

Recurrent erythema nodosum and pulmonary lymph node tuberculosis in a patient treated for psoriatic arthritis and psoriasis with TNF inhibitors

Introduction. Psoriasis is a chronic inflammatory disease affecting approximately 2% of the population. Biologic agents are the new treatment options for patients with moderate to severe plaque psoriasis who have failed traditional systemic therapies. The therapy with tumor necrosis factor antagonists significantly increases the risk of reactivation of latent tuberculosis; therefore, screening is important before the introduction of biological treatment. Objective. Presentation of diagnostic difficulties in establishing an etiological factor of recurrent erythema nodosum in a 46-year-old woman treated with anti-TNF-α agents (etanercept and adalimumab) for plaque psoriasis and psoriatic arthritis. Case report. We present a case of a 46-year-old woman, treated with etanercept and adalimumab for plaque psoriasis and psoriatic arthritis. Despite prophylactic antituberculosis treatment before introduction of biological therapy, the patient developed erythema nodosum most likely caused by lymph node tuberculosis. Conclusions . The development of erythema nodosum, especially the recurrent form, in a patient with a positive tuberculin skin test and negative IGRA test treated with anti-TNF should always prompt increased vigilance and exclusion of active tuberculosis, which may develop even in patients who have undergone prophylactic antituberculosis treatment

Risankizumab Therapy for Moderate-to-Severe Psoriasis—A Multi-Center, Long-Term, Real-Life Study from Poland

The present multi-center, long-term, real-life study made an attempt to assess the efficacy of risankizumab in the treatment of moderate-to-severe plaque psoriasis. The study comprised 185 patients from 10 Polish dermatologic departments undergoing risankizumab treatment. The disease severity was measured using the Psoriasis Area and Severity Index (PASI) before the start of the risankizumab treatment and next at the defined timepoints, i.e., 4, 16, 28, 40, 52 and 96 weeks of treatment. The percentage of patients achieving PASI90 and PASI100 responses as well as the PASI percentage decrease at the defined timepoints were calculated, and correlations with clinical characteristics and therapeutic effect were analyzed. The number of patients evaluated at the defined timepoints was: 136, 145, 100, 93, 62, and 22 at 4, 16, 28, 40, 52 and 96 weeks of treatment, respectively. At 4, 16, 28, 40, 52 and 96 weeks, the PASI90 response was achieved in 13.2%, 81.4%, 87.0%, 86.0%, 88.7% and 81.8% of patients, whereas the PASI100 response was achieved in 2.9%, 53.1%, 67.0%, 68.8%, 71.0% and 68.2% of patients, respectively. Our study revealed a significant negative correlation between a decrease in the PASI and the presence of psoriatic arthritis as well as the patient’s age and duration of psoriasis at several timepoints throughout the observation period