Genetic and pediatric diseases
Pathology · Topic 11
Source: NMC CBME Curriculum 2024 · Volume I · Pathology · Topic 11 · combined PDF page 190
Practice questions
- In the reported Project GIVE cohort, how many of 23 children evaluated for hearing loss received a molecular diagnosis?
- In the Project GIVE hearing-loss cohort, the reported 56% figure refers to which outcome?
- Which approach was used for children referred to Project GIVE for suspected rare disease and hearing loss?
- Which access-related problem was identified as a major contributor to delayed diagnosis of hereditary hearing loss in the supplied study?
- A review of the Project GIVE results states that about 60% of congenital hearing loss has a genetic etiology. Which interpretation best distinguishes this estimate from the study's own diagnostic yield?
- In the 59-child pediatric cardiomyopathy whole-exome sequencing cohort, 37 children had at least one variant of interest. What proportion did the study report?
- Which result in the pediatric cardiomyopathy study corresponds specifically to pathogenic or likely pathogenic variants, rather than all variants of interest?
- How many children in the pediatric cardiomyopathy cohort had a variant of uncertain significance, according to the study?
- In the reported cardiomyopathy cohort, which comparison of variant-of-interest yield by age at diagnosis was correct?
- Which statement correctly compares variant-of-interest yields for hypertrophic and dilated cardiomyopathy in the pediatric sequencing cohort?
- Among children diagnosed with cardiomyopathy before six months in the supplied cohort, what finding highlighted the possibility of an initially unrecognized syndromic genetic contribution?
- A child has an early-onset cardiomyopathy that initially appears isolated. Which interpretation is most consistent with the supplied pediatric sequencing study?
- The authors of the pediatric cardiomyopathy study supported which role for whole-exome sequencing?
- The pediatric genetic epilepsy cohort comprised children meeting which defining criterion?
- Which description best summarizes the genetic diversity reported in the 80-child epilepsy cohort?
- Which set of biological processes was enriched among genes associated with pediatric genetic epilepsies in the supplied cohort?
- What was the median age at seizure onset in the 80-child genetic epilepsy cohort?
- In the epilepsy study, pathway analyses did not show significant differences according to which pair of clinical features?
- Which conclusion about pathway-oriented analysis is best supported by the pediatric epilepsy study?
- In the pediatric lupus nephritis study, which group of variables was reported to correlate with mycophenolic-acid AUC0–12 h?
- Which pharmacogenetic finding in the pediatric lupus nephritis study was associated with MPA half-life rather than being listed among the AUC0–12 h correlations?
- How did single-timepoint MPA concentrations perform for predicting AUC0–12 h in the pediatric lupus nephritis study?
- Which sampling times were used in the optimal limited sampling strategy for estimating MPA-AUC0–12 h?
- Which equation represents the study's optimal four-timepoint limited sampling model for MPA-AUC0–12 h?
- Which combination was associated with reduced MPA exposure in the pediatric lupus nephritis study?
- What R² did the pediatric lupus nephritis study report for its optimal four-timepoint MPA-AUC0–12 h model?
- Which set of performance statistics was reported for the pediatric MPA limited sampling model?