Mary Iype, Ayyappan Anitha, Bineej B Jayan, Suresh A Poovathinal
{"title":"Genetic Landscape of Photoparoxysmal Response in Epilepsy.","authors":"Mary Iype, Ayyappan Anitha, Bineej B Jayan, Suresh A Poovathinal","doi":"10.1007/s12098-026-06413-4","DOIUrl":"10.1007/s12098-026-06413-4","url":null,"abstract":"<p><p>Photoparoxysmal response (PPR), often observed in epilepsy, is an abnormal cortical response to photic stimulation manifesting as specific EEG changes. It is a highly heritable EEG trait. Here, the authors have done a whole-exome sequencing (WES) study of epilepsy patients with PPR in a south Indian cohort, in an attempt to identify the genetic causes of epilepsy with PPR. The study design was prospective, exploratory and descriptive. Twenty-eight patients with idiopathic epilepsy, exhibiting Grade 4 PPR, were recruited for the study. Variants identified as likely pathogenic and those categorized as variants of uncertain significance were detected in genes associated with epilepsy, as well as in genes implicated in syndromes associated with epilepsy. This is the first comprehensive genetic study of PPR in an Indian population.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1215-1217"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148874056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Maternal Exposure to Air Pollution During Early Pregnancy and Congenital Heart Disease: An Exploratory Case-Control Analysis from Delhi NCR.","authors":"Prachi Kukshal, Mahima Sharma, Bibin R, Shadab Ahamad, Paramvir Singh","doi":"10.1007/s12098-026-06363-x","DOIUrl":"10.1007/s12098-026-06363-x","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the association between periconceptional maternal exposure to air pollution and risk of congenital heart disease (CHD) in the highly polluted Delhi National Capital Region (Delhi-NCR).</p><p><strong>Methods: </strong>This case-control study included 1,556 participants (1,115 cases; 441 controls) from Delhi-NCR. Maternal residential addresses were geocoded to estimate periconceptional exposure (at conception, one month pre- and post-conception) to major air pollutants [PM<sub>2.5</sub>, PM<sub>10</sub>, NO<sub>2</sub>, CO, SO<sub>2</sub>, O<sub>3</sub>, PM<sub>2.5</sub>+ PM<sub>10</sub>, and Air Quality Index (AQI)]. Associations were analysed using multinomial regression.</p><p><strong>Results: </strong>Sixteen Bonferroni-corrected Adjusted odds ratio (AOR) were observed in the study. Preconception exposure to poor AQI [AOR = 2.54 (1.60-4.04)] and PM<sub>10</sub> [AOR = 2.82 (1.69-4.71)] increased the odds of simple CHD. At conception, poor AQI was associated with all CHDs [AOR = 2.48 (1.60-3.84)], acyanotic [AOR = 2.68 (1.70-4.24)], and simple CHDs [AOR = 2.71 (1.67-4.39)]. Post-conception exposure showed the strongest associations: poor AQI-All CHD [AOR = 2.74 (1.78-4.22)], acyanotic [AOR = 2.89 (1.84-4.56)], simple CHD [AOR = 2.85 (1.76-4.61)]; PM<sub>10</sub>-All CHD [AOR = 3.36 (2.05-5.52)], acyanotic [AOR = 3.50 (2.09-5.84)], simple CHD [AOR = 3.95 (2.31-6.76)], and moderate CHD [AOR = 3.64 (1.91-6.91)]. VSD was consistently associated with PM<sub>10</sub> preconception [AOR = 3.13 (1.80-5.47)], poor AQI at conception [AOR = 3.18 (1.82-5.53)], and both poor AQI [AOR = 4.01 (2.28-7.08)] and PM<sub>10</sub> [AOR = 4.35 (2.41-7.83)] post-conception.</p><p><strong>Conclusions: </strong>To our knowledge, this first Indian study demonstrates that periconceptional exposures to poor AQI and PM<sub>10</sub> is significantly associated with increased odds of CHD, with the post-conception period emerging as the most critical window. These findings highlight the urgent need for larger nationwide cohorts and targeted exposure-reduction strategies in early pregnancy.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1175-1182"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149109029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Maternal Air Pollution and Congenital Heart Disease: Bridging the Evidence Gap in India.","authors":"Vinod H Ratageri","doi":"10.1007/s12098-026-06419-y","DOIUrl":"10.1007/s12098-026-06419-y","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1153-1154"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149109034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Raghavendra G Namadhari, Vinod H Ratageri, Madhu P K, Shivanand Illalu, Siddappa F Dandinavar, Harish Sheri
{"title":"Dengue Death Audit in Pediatric Cases: A Clinical Analysis from a Tertiary Care Centre.","authors":"Raghavendra G Namadhari, Vinod H Ratageri, Madhu P K, Shivanand Illalu, Siddappa F Dandinavar, Harish Sheri","doi":"10.1007/s12098-026-06434-z","DOIUrl":"10.1007/s12098-026-06434-z","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"1231"},"PeriodicalIF":2.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148911835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}