BACKGROUND:Cystic fibrosis (CF) is considered to be extremely rare in India, but over the past few decades, multiple reports suggest that CF occurs in India and clinical features may be different. Reports on clinical features are limited to case series. In this multisite nationwide prospective study, we report the clinical profile of CF in Indian children. METHODS:Children below 18 years of age presenting with suggestive symptoms were enrolled at all the sites using a uniform protocol over a 5-year period at four sites across India. Diagnosis of CF was based on either elevated sweat chloride levels or the presence of two pathogenic CF-causing mutations, together with a clinical phenotype suggestive of the disease. Data collection included demographic, clinical, laboratory profiles, results of the aquagenic wrinkling test and overall outcomes of children diagnosed with CF. RESULTS:A total of 811 children were enrolled and 313 were diagnosed as CF during the study period. The median age at symptom onset and diagnosis was 2.25 months and 2.58 years, respectively. The common presenting symptoms included chronic cough (280, 89.5%), poor growth (213, 76.9%) and chronic diarrhoea (195, 62.3%). At the time of diagnosis, bronchiectasis on chest CT was present in 233 (90%) patients. Airway cultures grew Pseudomonas aeruginosa in 63 (36.8%), and Staphylococcus aureus in 32 (18.7%) patients. The common mutation was delta F508del, present in 31.3% of patients. CONCLUSION:CF is prevalent across all the geographic regions of India. Delay in diagnosis remains a significant challenge and contributes to the development of severe complications.

Stridor is a common presenting complaint in infancy. Its aetiology ranges from benign to severe, life-threatening conditions. We report here a 2-month-old child who presented with respiratory distress and stridor since 20 days of life, with intermittent worsening. On examination, there was a haemangioma on the right ear lobe. A similar lesion in the airway was suspected, and flexible bronchoscopy revealed an airway haemangioma in the larynx extending up to the carina. Further workup was performed given haemangioma in the facial region that led to a diagnosis of the Posterior fossa malformations, Arterial anomalies, and Coarctation of the aorta, along with other cardiac defects and Eye abnormalities (PHACE) syndrome. Following oral propranolol, there was a significant improvement in symptoms. This case highlights that airway haemangioma should be suspected in infants presenting with stridor and haemangioma, especially in the facial area. Once the diagnosis is confirmed, the child should be further evaluated for underlying PHACE syndrome.

BACKGROUND:Flexible fibreoptic bronchoscopy (FFB) is widely used in pediatric pulmonology, though hypoxemia remains a primary concern during the procedure. High-flow nasal cannula (HFNC) has shown potential in reducing hypoxemia in adults undergoing FFB. This study evaluates the efficacy and safety of HFNC versus low-flow nasal cannula (LFNC) for preventing hypoxemia during elective FFB in children. METHODS:Children aged 1 month to 18 years scheduled for elective FFB were enrolled, excluding those ineligible for sedation or requiring prior respiratory support. Participants were randomized to HFNC or LFNC groups. The Chi-Square test was used for bivariate analysis; Yates' correction or Fisher's exact test was applied where assumptions were violated. Multivariate analysis was performed to identify clinically significant factors associated with hypoxemia. RESULTS:Of 206 screened children, 122 were randomized (54.1% male; median age 39 months), with 61 in each group. Hypoxemia occurred in 37 (60.66%) HFNC and 34 (55.74%) LFNC patients, with no significant difference (p = 0.59; OR: 0.59-2.53). Complication rates-bradycardia, tachycardia, bradypnea, tachypnea, laryngospasm, and blood pressure changes were similar in both groups. Among those undergoing BAL, hypoxemia did not differ between groups (p = 0.57). No HFNC patient required resuscitation, whereas three LFNC patients developed apnea, interrupting the procedure. Multivariable analysis showed no independent predictors of hypoxemia severity (age, anemia, sedation depth; all p > 0.05). CONCLUSION:HFNC did not show superiority over LFNC in preventing hypoxemia during elective FFB in children, however, the study may have been underpowered to detect modest differences. CLINICAL TRIAL REGISTRATION:Clinical Trials Registry-India (CTRI) Registration No: CTRI/2022/08/044772 Dated: 22-08-2022). URL: https://ctri.nic.in/Clinicaltrials/rmaindet.php?trialid=71295&EncHid=72590.52664&modid=1&compid=19.

The Mini Pediatric Asthma Quality of Life Questionnaire (MiniPAQLQ) was evaluated for its utility in assessing the quality of life (QoL) in children with asthma. One hundred and thirty-nine children aged 7–16 years were assessed using the MiniPAQLQ and standard asthma control tools, including the Asthma Control Test, Asthma Control Questionnaire, and Global Initiative for Asthma criteria. Higher MiniPAQLQ scores correlated strongly with better asthma control across all measures. Regression analysis demonstrated significant association between MiniPAQLQ scores and asthma control indices. The MiniPAQLQ is a valid instrument for assessing QoL and reflects asthma control in pediatric patients.

Wheezing in preschool children is a common clinical challenge characterized by a broad differential diagnosis and marked phenotypic heterogeneity. The Global Initiative for Asthma (GINA) 2025 guidelines introduce a structured framework for diagnosing asthma in this age group, shifting from a probabilistic to a more definitive labelling approach. While this represents a significant evolution, its applicability in low- and middle-income countries (LMICs) faces significant barriers including caregiver misreporting, limited diagnostic tools, and inconsistent follow-up. This article critically examines these challenges, particularly the risks of overdiagnosis and overtreatment in preschool wheeze within the LMIC context.

Background:In 2017 India introduced the 13-valent pneumococcal conjugate vaccine (PCV13; Prevenar 13®) in select high-burden sites and in 2021, transitioned to nationwide introduction of 10-valent PCV (PCV10-SII; PNEUMOSIL®). We examined data from a large sentinel paediatric meningitis surveillance network to assess early changes in pneumococcal meningitis among hospitalised children after introduction of pneumococcal vaccine. Methods:Children (1-59 months) who were hospitalised with suspected meningitis at 32 hospitals across 19 states of India were enrolled in this hospital-based surveillance from 2019 to 2022. Clinical and demographic data were collected. Cerebrospinal fluid (CSF) samples were tested for Streptococcus pneumoniae using real-time PCR. Serotypes were identified using real-time PCR in TaqMan Array Cards. Cases were categorised based on PCV implementation in their district of residence on their admission date as pre-PCV (before rollout of PCV10-SII/PCV13), early-PCV (<1 year since rollout), or post-PCV (≥1 year since rollout) group. Findings:Among 12,971 children enrolled, 303 (2.3%) had pneumococcal meningitis; 65.3% were between 1 and 11 months of age, and 60.1% were males. Among 260 children with outcome data, 93.1% recovered, while 6.9% died during hospitalisation. The proportion of children with pneumococcal meningitis decreased from 3.5% pre-PCV to 1.8% during both early- and post-PCV periods. Among serotyped pneumococcal meningitis, the proportion of PCV10-SII serotypes was 41.4% in pre-PCV, 33.3% early-PCV, and 25.9% post-PCV periods. The most common PCV10-SII serotypes were 5, 14, and 6B whereas non-PCV10-SII serotypes were 18C/18B, 8, and 10F. Interpretation:Decline in the proportion of PCV10-SII serotype among paediatric pneumococcal meningitis patients represents preliminary signals of PCV impact in India. These findings provide programmatically relevant evidence to inform ongoing evaluation of PCV implementation. Continued surveillance is essential to monitor serotype distribution and pneumococcal meningitis patterns over time. Funding:Gates Foundation (OPP1188408) and the United Nations Development Programme (00101970).

Acute bronchiolitis is a leading cause of lower respiratory tract infections in young children. While multiple viruses contribute to its pathogenesis, their impact on disease severity remains unclear. In this cross-sectional observational study, children with bronchiolitis were enrolled. Baseline characteristics, bronchiolitis severity score, Respiratory Distress Assessment Instrument score, duration of hospitalization, and respiratory support requirements were recorded. Nasopharyngeal aspirates were analyzed via real-time polymerase chain reaction. Among 52 enrolled children (median age: 3 months), viruses were detected in 33 (63.5%) children. Of these, 6 (11.5%) had co-infection with more than one virus. Human rhinovirus (HRV) was the most common (39.4%), followed by respiratory syncytial virus (RSV) (33.3%), parainfluenza virus (PIFV) (21.2%), enterovirus (EV) (12.1%), influenza virus (6.1%), and both human metapneumovirus (hMPV) and human coronavirus (3.0% each). Co-infections involved HRV-RSV (n=2), HRV-EV (n=2), RSV-PIFV (n=1), and EV-PIFV (n=1). HRV was significantly associated with mild bronchiolitis (p=0.03), while other viruses and co-infections did not impact severity. Children aged 13-24 months had a significantly longer median hospital stay than younger age groups (p=0.04). Notably, despite recent concerns about hMPV in younger children, we found only one case, presenting with mild bronchiolitis and no respiratory support requirement. HRV is linked to milder bronchiolitis, while other viruses and co-infections do not significantly influence severity. These findings highlight regional viral variations and the need for larger studies to guide management.

Cystic Fibrosis (CF) is increasingly diagnosed in non-European populations, including Indian children, with wide regional and ethnic variation in CFTR genotypic spectrum. This study aimed to document the CFTR genetic profile in Indian children and assess regional variability. In a multicentric effort to strengthen CF services in India, data were collected from children with confirmed CF at AIIMS New Delhi, SKIMS Srinagar, AIIMS Jodhpur, and CMC Vellore. A stepwise testing strategy was used: initial screening for two common variants via Sanger sequencing and RFLP, followed by NGS and MLPA for broader variant detection. Among 260 children (520chromosomes), 105 CFTR variants were identified. The most common variant, p.Phe508del, had an allele frequency of 29-34% across regions-substantially lower than the 70-80% seen in Europeans. Each region showed 4-5 common variants. The genotypic spectrum in southern/eastern India resembled that of West/Southwest Asia, while northern/western India showed similarity to Western Europe. Fourteen novel variants were detected: seven pathogenic, three likely pathogenic, and four of uncertain significance. This is one of the most comprehensive studies to reveal region-specific CFTR variants in India. The lower prevalence of p.Phe508del and distinct genotypic patterns across regions highlight the need for customized diagnostic algorithm. There is an urgent need to evaluate the efficacy of current CFTR modulators and to explore the development of new treatments based on the unique Indian molecular spectrum.

Systemic lupus erythematosus is a chronic multisystem autoimmune disorder with varied etiology and clinical presentation. It is unusual during infancy. We describe a 2-year-old boy who presented with progressive mucocutaneous lesions with arthralgia and limb pain. He had hepatomegaly, Raynaud's phenomenon, brisk deep tendon reflexes, and bilateral upper and lower limb weakness. On evaluation, he was positive for ANA and SSA only without any complement activation and was subsequently diagnosed with mixed features of both subacute and chronic cutaneous lupus erythematosus. Infantile onset lupus is rare and should be suspected in children with mucocutaneous and musculoskeletal involvement.

To assess the prevalence of bacterial contamination of spacer devices used by asthmatic children. A cross-sectional study at a tertiary centre in India included asthmatic children aged 5 to 17 years who were using metered-dose inhaler (MDI) with a spacer for at least three months. A sterile cotton swab pre-moistened in sterile brain heart infusion (BHI) broth, rotated around the inner surface of the spacers, was smeared on blood agar and MacConkey agar plates. Plates were incubated for bacterial growth and examined for colony growth. A total of 180 children were enrolled with a median (Q1, Q3) age of 12 (9, 14) years. Out of 180 spacer devices, 72 (40