METHODS: An observational study was conducted in a tertiary care hospital. Children with CCHD in the age group of birth-12 years were included in the study. Hematological parameters of these patients were determined and compared. An assessment of the incidence of cyanotic spells in the iron-deficient and iron non-deficient children was also done. Data analysis was done using Fischer's exact test.
RESULTS: The prevalence of IDA was 47.06% in the study population. The study also showed that hemoglobin and hematocrit levels were paradoxically higher in the iron-deficient group as compared to the non-deficient, though the iron studies revealed the iron deficiency. The incidence of cyanotic spells was higher in the iron-deficient group. The mean corpuscular volume (MCV), red cell distribution width (RDW), serum ferritin, serum iron, total iron binding capacity (TIBC), and transferrin saturation (TS) values were the parameters, which were found to be statistically significant to differentiate the study groups.
CONCLUSION: The prevalence of IDA in children with CCHD was found to be high. Iron-deficient group had an increased frequency of cyanotic spells as compared to the non-deficient group, which was statistically significant.
METHODS: Retrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort.
RESULTS: The ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33], P = 3×10-72). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36], P = 7×10-50). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk for BRCA1 (HR = 1.32 [95% CI 1.25-1.40], P = 3×10-22) and BRCA2 (HR = 1.44 [95% CI 1.30-1.60], P = 4×10-12) carriers. The associations in the prospective cohort were similar.
CONCLUSION: Population-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.