How do parents of wheezing children report their symptoms? A single centre cross-sectional observational study.

Background: Reported wheeze is of major relevance in the diagnosis and management of asthma and epidemiological studies on asthma prevalence. Our aim was to investigate the understanding of this term by parents and how they reported it to clinicians. Methods: A single-centre cross-sectional observational study was carried out at a tertiary care hospital. Parents of wheezing children self-completed a written questionnaire, which was analysed to understand parental understanding of the term wheeze and the main symptoms noticed by them. Their responses were compared to the operational definition used in the ISAAC study. Results: Questionnaires from 101 parents were analysed, out of which 50 children had an audible wheeze and 51 had an auscultatory wheeze. In our study, when asked about the main thing they noticed, 90 parents (89%) used non-auditory cues to identify wheeze, with the main presenting complaint being cough (n = 43, 42.6%), and only 4 (4%) reported wheezing. Even among the audible wheezers, only 7 (14%) used an auditory cue (alone or with some other cue) to describe their child's symptoms. Forty-seven parents knew the term wheeze, of which 19 parents (18.8%, N = 101) localised it to the chest, matching the epidemiological definition used in the ISAAC study. Conclusion: The word wheeze was not commonly used to describe a child's symptoms in our setting, even when the child was actively wheezing. Parents often use colloquial equivalents, nonspecific terms and other clinical cues such as coughing while reporting their child's symptoms. The parental concept of "wheezing" is different from epidemiological definitions.

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.

Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indian patients who manifested with ketoacidotic episodes of variable severity. The patients showed increased urinary excretion of isoleucine-catabolic intermediates: 2-methyl-3-hydroxybutyrate, 2-methylacetoacetate, and tiglylglycine. Six patients had a favorable outcome, one died, and three developed neurodevelopmental sequela. Mutational analysis revealed a common (p.Met193Arg) and four novel (p.Ile323Thr, p.Ala215Asn, c.1012_1015dup, and c.730+1G>A) ACAT1 mutations. Transient expression analyses of wild-type and mutant cDNA were performed at 30, 37, and 40°C. A p.Ile323Thr mutant T2 was detected with relative enzyme activity and protein amount of 20% and 25%, respectively, compared with wild type at 37°C; it was more prevalent at 30°C but ablated at 40°C. These findings showed that p.Ile323Thr had a significant residual T2 activity with temperature-sensitive instability. Neither residual enzymatic activity nor mutant T2 protein was identified in p.Met193Arg, p.Ala215Asn, and c.1012_1015dup mutations using supernatants; however, these mutant T2 proteins were detected in insoluble pellets by immunoblot analysis. Expression analyses confirmed pathogenicity of these mutations. T2 deficiency has a likely high incidence in India and p.Met193Arg may be a common mutation in the Indian population.

Genetic diversity of enterovirus A71, India.

We have identified circulation of 3 genogroups of enterovirus (EV) A71 in India. A new genogroup (proposed designation G) was discovered during this study. We isolated genogroups D and G in wide geographic areas but detected subgenogroup C1 only in 1 focus in western India. A systematic nationwide search for EV-A71 is warranted.