BACKGROUND
p53 is a transcription factor that regulates the cell cycle, DNA repair, and apoptosis. A variant at codon 72, rs1042522, results in altered activities for p53 and is, notably, differentially distributed among different ethnic populations. However, associations of this variant with cancer in men of African descent have not been explored. Herein, we tested the hypothesis that rs1042522 was associated with prostate cancer (PCa) risk.
MATERIALS AND METHODS
Genotypes were determined by PCR-RFLP methods in a study population of African descent consisting of 266 PCa patients and 196 male controls.
RESULTS
Our results indicate that the p53 polymorphism may be associated with increased risk of PCa. Genotypes were significantly and marginally associated with PCa risk using the dominant and log-additive genetic models (OR = 1.53, 95% CI: 1.02–2.29, P = 0.04; OR = 1.33, 95% CI: 0.99–1.78, P = 0.06, respectively). After adjusting for age, the associations with PCa remained, but results were not statistically significant (OR = 1.48, 95% CI: 0.95–2.31, P = 0.08; OR = 1.30, 95% CI: 0.95–1.80, P = 0.10, respectively).
CONCLUSIONS
The present study demonstrates that population-dependent differences in allele frequencies associated with health disparities provide a valuable framework for the interrogation of complex diseases in all populations.
Acute chest syndrome (ACS) is a common and serious lung complication in sickle cell disease. A retrospective medical chart review was performed over a 6-year period in all pediatric ACS patients to investigate whether factors during the initial hospitalization were associated with recurrent ACS episodes. There were 386 episodes of ACS: 149 had only 1 episode of ACS, and 76 had >1 episode of ACS; 172 (76.4%) had hemoglobin SS, and 39 (17.3%) had hemoglobin SC. The most common presenting features were fever (83%), pain (70%), and cough (61%), which changed with the number of ACS episodes. Children <4 years old were at greatest risk of recurrent ACS (P=0.018). In addition, history of asthma (adjusted incident rate ratio [IRR]=1.52; 95% confidence interval [CI], 1.22-1.98; P<0.0001), shortness of breath (IRR, 1.29; 95% CI, 1.02-1.62; P=0.033), and length of hospital stay (IRR, 1.04; 95% CI, 1.01-1.08; P=0.017) were significantly associated with prospective ACS events. Multiple episodes of ACS are common in sickle cell disease, and certain risk factors during the initial hospitalization are associated with recurrent ACS.
Toxic epidermal necrolysis (TEN) is a rare and potentially fatal mucocutaneous condition that may affect both children and adults. TEN mortality rates vary greatly between both patient populations, but multisystem involvement is common. Management presents many challenges as there is no specific therapy for TEN, and patients often require the expertise of burn units. We report a child who survived TEN with multisystem involvement including the rare but life threatening occurrence of a pulmonary air-leak syndrome while also reviewing controversies surrounding TEN's pathophysiology, sequelae, and multidisciplinary approach to management.
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