Pediatric asthma and eosinophilia: insights from nasal and blood smear analyses

Background: Allergic respiratory maladies, particularly pediatric asthma, pose substantial challenges in public health. This cross-sectional investigation endeavours to unravel the eosinophilic landscape within nasal cytological specimens and peripheral blood samples of pediatric asthma cohorts, with a keen focus on discerning the correlation between nasal and systemic eosinophilia.Methods: Sixty-six pediatric asthma subjects, aged 6 to 18, under the care of Cheluvamba hospital in Mysuru, were meticulously recruited over an extensive 18-month period.Results: Analysis unveiled a conspicuous preponderance of male participants, with a mean age range spanning 9 to 13 years. Intriguingly, the presence of allergic rhinitis (AR) exhibited no discernible statistically significant nexus with either asthma severity or eosinophilic markers. Noteworthy findings include peripheral eosinophilia detected in 56% of subjects, juxtaposed against nasal eosinophilia observed in 20%; however, no statistically meaningful correlation emerged between nasal and peripheral eosinophilia.Conclusions: The inquiry culminated in a robust affirmation that mean nasal eosinophil count and blood absolute eosinophil count (AEC) exhibit a salient association with asthma severity and control in pediatric cohorts, irrespective of AR presence. Particularly, a discernible augmentation in mean AEC and nasal eosinophil count was discerned concomitant with exacerbating asthma severity and in cases of partial/ uncontrolled asthma.

Cornelia de Lange syndrome type 4 with a novel heterozygous missense variant in RAD 21 gene

Cornelia de Lange syndrome (CdLS) is a congenital multisystemic disorder characterized by genetic heterogeneity. It presents with features such as growth and cognitive retardation, upper limb deformities, cardiac, ophthalmologic, and genitourinary anomalies, alongside distinctive facial characteristics. The CdLS phenotype represents a spectrum that includes both classic and non-classic phenotypes resulting from pathogenic variants in genes associated with cohesin functioning, including NIBPL, SMC1A, SMC3, RAD21, BRD4, HDAC8, and ANKRD11. Mutations in these genes manifest diverse clinical features, with RAD21 variants accounting for a small percentage of cohesinopathies in humans. RAD21-related cohesinopathy typically exhibits growth retardation, minor skeletal anomalies, and facial features overlapping with CdLS. However, cognitive involvement tends to be milder. Despite this, due to the limited number of reported cases with RAD21 mutations, establishing genotype-phenotype correlations remain challenging. We present the case of an 18-month-old boy exhibiting developmental delay and distinct morphological features including micro-brachycephaly, depressed nasal bridge, upturned nose, long philtrum, low-set ears, mesomelic limb dwarfism, and a complete endocardial cushion defect. Exome sequencing revealed a novel RAD21 variant in this individual.