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.

When Guillain-Barre syndrome took a wrong path

The pharyngeal cervical brachial (PCB) variant of Guillain-Barre-syndrome (GBS) is defined by rapidly progressive oropharyngeal and cervicobrachial weakness associated with areflexia in upper limbs. On nerve conduction study PCB represents a localized subtype of GBS characterized by axonal rather than demyelinating neuropathy. PCB is often misdiagnosed as brainstem stroke, myasthenia gravis or botulism. Herein we describe a case of symmetric descending type of acute flaccid paralysis with predominant upper limb involvement and also lower limb involvement diagnosed as a PCB- GBS overlap mainly based on nerve conduction study.

Influence of serum vitamin D levels on control and severity of asthma in children

Background: To determine the association between the serum vitamin D levels with the control and severity of asthma.Methods: A total of 113 asthmatic children were enrolled in the study who were on regular follow-up and treatment for the past 6 or more months. The demographic details, presenting complaints, aggravating factors, allergic rhinitis, atopic dermatitis, hospital and ICU stay, duration of sunlight exposure, drug compliance and detailed clinical examination findings were noted in the predesigned proforma. Control of asthma was assessed based on GINA guidelines 2018 as well controlled, partly controlled and poorly controlled. The partly controlled and the poorly controlled group were further combined and labelled as not well controlled group. Severity of asthma was categorized into intermittent, mild persistent, moderate persistent and severe persistent. Serum 25 hydroxy vitamin D was assessed by solid phase ELISA. The well controlled and partly controlled group were compared for all studied parameters.Results: Asthma status of the subjects was categorized as well controlled (59%) as partly controlled (40%) and as poorly controlled (1%). Children with partly and poorly controlled asthma had significantly more vitamin D deficiency (10.9%) and insufficiency (32.6%) compared to well controlled group (4.5% and 4.5% respectively), with p value= 0.000. Low serum vitamin D levels are significantly associated with moderate and severe persistent asthma (p value= 0.009). Exercise significantly induced symptoms in 47.8% of not well controlled group and about 25.4% in well controlled group (p value= 0.014). Examination findings such as wheeze on auscultation was significantly more in not well controlled group.Conclusions: Low serum vitamin D levels are associated with poor control of asthma in children and the severity of asthma is inversely proportional to the serum vitamin D levels.

The study of lipid profile and other cardiovascular risk factors in children born to parents having premature ischemic heart disease

Background: Most of the studies on cardiovascular risk factors are concentrated on adults. But atherosclerotic process begins in childhood and is influenced by genetics, diet and life style. Hence, present study was undertaken. The objectives of the study were to study lipid profile and other cardiovascular risk factors like hypertensive status, BMI(Body mass index) in children aged between 5years and 18 years born to parents having premature IHD(Ischemic heart disease), to study diet and life style factors in study group having family history of IHD, to study the sociodemographic profile of dyslipidemia.Methods: A 200 Cases of premature IHD were selected. Their children(n=200) in the age group of 5 to 18 years were selected and analysed for cardiovascular risk factors. They were compared with 200 normal children without any family history of IHD.Results: On comparison of mean lipid profile between cases and controls HDL cholesterol was very low amongst cases (p=0.001). The mean values of triglycerides and VLDL were very high amongst cases (p=0.001). The mean atherogenic index (AI) was high amongst cases (p=0.001). Prehypertension or hypertension was seen amongst 8.5% cases (p=0.004). Amongst the cases 19.5% had excess junk food intake (p=0.001). 51.5% of cases had sedentary life style (p=0.001).Conclusions: Children in our area born to parents with premature IHD have significant incidence of dyslipidaemia. There is an increased incidence of other cardiovascular risk factors like hypertension, excess junk food intake, sedentary life style in these children.