Pal S, Bijarnia-Mahay S, Nampoothiri S
… +11 more, Muranjan M, Gupta N, Vh S, Jagadeesh S, Bhat M, Gn S, Yesodharan D, Modani P, Kabra M, Kishnani PS, Puri RD
OBJECTIVES: To determine the impact of enzyme replacement therapy (ERT) in patients with late onset Pompe disease (LOPD) in terms of change in motor and respiratory status, along with challenges in obtaining multi-discip...OBJECTIVES: To determine the impact of enzyme replacement therapy (ERT) in patients with late onset Pompe disease (LOPD) in terms of change in motor and respiratory status, along with challenges in obtaining multi-disciplinary care to manage the multi-systemic aspects of disease. METHODS: This was a retrospective chart review of patient data, collected from seven tertiary care centres across India. All patients of late onset Pompe disease that have received enzyme replacement therapy were included and a descriptive analysis of data was performed. RESULTS: Twenty two patients of LOPD were initiated on ERT and included in this data analysis, with demise of three patients and incomplete follow-up of five patients. Motor function assessment, in terms of 6 min walk test (6MW) and change in ambulatory status, showed improvement/stabilization of distance walked in 6 min for three of four patients, although one of three lost ambulation thereafter due to severe COVID infection. One patient showed gradual deterioration in 6 MW distance with 6.7% minimal detectable change for 4 patients. Fifteen percent (15%) patients lost independent ambulation over the study period. Of eight patients with pulmonary function test data before and after ERT, four showed decline while four showed stabilization of supine and sitting forced vital capacity. Three patients developed sleep disordered breathing requiring nocturnal BiPAP. Five patients were switched over to avalglucosidase alfa from alglucosidase alfa, with two patients showing improvement in PFT after switching over. CONCLUSIONS: This is the first study describing the impact of ERT in an Indian cohort of LOPD patients. It shows real world concerns of impact of chronic diseases with delay in starting therapy. It also brings to light the challenges in obtaining multi-disciplinary management. The wide variability in spectrum of presentations, early onset and faster rates of disease progression as well as high disease burden highlight the need for early initiation of therapy.
OBJECTIVES: To present an overview of the practice of prenatal diagnosis and genomics in India. METHODS: This manuscript was compiled through review of published literature, survey of peers and professional experience of...OBJECTIVES: To present an overview of the practice of prenatal diagnosis and genomics in India. METHODS: This manuscript was compiled through review of published literature, survey of peers and professional experience of authors. RESULTS: The field of prenatal diagnosis in India had its beginnings in the 1980s with advent of ultrasound machines and invasive procedures. The high prevalence of birth defects and genetic diseases in the population had been recognized by pediatricians and clinical geneticists as early as the 1950-60s. Various factors, like epidemiological transition with increasing contribution of genetic diseases and birth defects towards adverse health statistics, enhanced awareness of health care providers and policy makers, availability of trained manpower and rapid advancements in the field of genomics have all led to expansion of the field of prenatal diagnosis and genomics in the country since these early times. Medical termination of pregnancy has been legally allowed since 1971 and culturally acceptable to the majority. In the last four decades, advances in prenatal diagnosis have given women the option to make decisions about termination of pregnancy by earlier detection of fetal structural and genetic abnormalities. CONCLUSIONS: This study reviews the historical journey of the field in India and the current status. It also discusses the challenges faced by the country and the measures being undertaken to address the same.
Anujna A, Khera D, R LM
… +6 more, Shrivastava A, J SA, Srivatsav S, Suvarna KC, Yadav T, Goyal JP
Indian J Pediatr
· 2026 Jun · PMID 42371387
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Exogenous lipoid pneumonia (ELP) is an uncommon inflammatory lung disease caused by aspiration of lipid substances and may progress to respiratory failure. We report a 4-y-old child who developed respiratory distress fol...Exogenous lipoid pneumonia (ELP) is an uncommon inflammatory lung disease caused by aspiration of lipid substances and may progress to respiratory failure. We report a 4-y-old child who developed respiratory distress following sewing machine oil ingestion. Imaging revealed bilateral consolidation with multiple pneumatoceles complicated by bilateral pneumothoraces requiring intercostal drainage. Despite supportive care and corticosteroid therapy, the child developed respiratory failure necessitating mechanical ventilation, tracheostomy, and pleurodesis for persistent pneumothoraces. Repeat chest computed tomography demonstrated characteristic fat attenuation suggestive of ELP. In view of persistent respiratory distress and inability to wean off from ventilation, partial bilateral therapeutic lung lavage was performed, yielding milky-white fluid, following which gradual improvement was observed and ventilatory support was successfully weaned.
Indian J Pediatr
· 2026 Jun · PMID 42366323
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OBJECTIVES: To assess the linear growth in patients with idiopathic nephrotic syndrome receiving corticosteroid therapy. METHODS: Two hundred forty-five cases, aged 1-18 y of both gender [53 - first episode nephrotic syn...OBJECTIVES: To assess the linear growth in patients with idiopathic nephrotic syndrome receiving corticosteroid therapy. METHODS: Two hundred forty-five cases, aged 1-18 y of both gender [53 - first episode nephrotic syndrome (FENS), 50 - infrequent relapsing (IRNS), 68 - frequent relapsing (FRNS), 46 - steroid dependent (SDNS) and 28 - steroid resistant (SRNS)] were included. Height Z-score, cumulative dose of prednisolone and steroid-related side-effects were recorded. RESULTS: Median age at onset of disease was 3.8 y [interquartile range (IQR) 3-7] and median duration of follow-up was 4 mo (IQR 3, 10). Overall, 97 cases (39.5%) showed short stature (height Z-score <-2) after therapy; 27 had short stature before and 70 (28.5%) new cases (20 IRNS + 31 FRNS + 17 SDNS + 2 SRNS) developed after treatment. Median height Z-score showed significant reduction (-1.9 vs. -2.3, P <0.001) after therapy. Cumulative steroid dose (mg/m) significantly decreased the height velocity in 50 cases (31 FRNS + 17 SDNS + 2 SRNS), who received steroid over prolonged period (r = -0.322, p = 0.023). Age at onset of disease (r = -0.328, p = 0.020) and duration of steroid therapy (r = -0.338, p = 0.016) significantly correlated with change in height Z-scores. CONCLUSIONS: Younger age of onset of disease and duration of steroid therapy had significant relationship with linear growth.
Indian J Pediatr
· 2026 Jun · PMID 42360534
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The 2025 International Liaison Committee on Resuscitation (ILCOR) Pediatric Life Support (PLS) update introduces ten significant changes aimed at improving the timeliness, quality, and physiologic precision of pediatric...The 2025 International Liaison Committee on Resuscitation (ILCOR) Pediatric Life Support (PLS) update introduces ten significant changes aimed at improving the timeliness, quality, and physiologic precision of pediatric resuscitation. Based on the review of 39 PICOST questions, the update highlights early cardiopulmonary resuscitation (CPR) for bradycardia with poor perfusion, renewed emphasis on pediatric early warning systems (PEWS) for early deterioration detection, and reaffirmation of bag-mask ventilation as the preferred initial airway technique. Both ABC and CAB sequences are now acceptable for initiating CPR. Defibrillation guidance continues to recommend an initial 2-4 J/kg/dose and now favours anteroposterior pad placement. The traditional 10-second pulse check rule has been withdrawn in favour of immediate CPR when signs of life are uncertain. Epinephrine timing has become rhythm-specific, supporting early use in non-shockable rhythms and delayed administration after the second shock for shockable rhythms. New physiologic targets-including diastolic blood pressure thresholds and ETCO >20 mmHg-promote hemodynamic-guided CPR, while post-arrest care incorporates systolic blood pressure goals and a multimodal approach to neuro-prognostication. Some earlier recommendations have been removed or revised, reflecting updated evidence. Together, these changes mark a shift toward clearer, physiology-based, goal-directed resuscitation practices designed to improve survival and neurologic outcomes.