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Next-generation sequencing (NGS)-based tests are being increasingly employed by clinicians for obtaining a genetic diagnosis in individuals and families with possible genetic disorders. However, there is a significant disparity in the genomic knowledge and skills of the clinicians employing these tests for care and management of families with rare genetic disorders. Through the current document, the Society for Indian Academy of Medical Genetics (SIAMG) aims to provide guidance and consideration in terms of the type of tests available, their appropriate applications, and result interpretation in order to make judicious use of these tests for rare disease diagnosis.
Background Mixed feeding, the practice of combining breastfeeding along with formula or other foods/liquids before six months of age, is a common concern in India. This study aims to explore the factors influencing mixed feeding among Indian mothers, focusing on their knowledge, attitudes, and practices. Understanding these factors can help in designing targeted interventions to promote exclusive breastfeeding (EBF) as per World Health Organization recommendations. Methodology We conducted a hospital-based observational study that included 129 mothers practicing mixed feeding. A questionnaire assessed their knowledge, attitudes, and determinants related to breastfeeding. Results While most mothers (95.3%) understood the importance of EBF for the first six months, challenges such as inadequate milk supply (76.7%), family influence, and workplace constraints led to mixed feeding. Formula and cow's milk were the most used alternatives. Conclusions The study underscores the need for improved lactation counselling and support, especially during antenatal and postnatal care. Strengthening public health interventions and workplace policies can help promote EBF.
Empirical antibiotic prescribing during the COVID-19 pandemic may have accelerated antimicrobial resistance, particularly in resource-constrained settings with limited diagnostic and stewardship capacity. This study characterized antibiotic prescribing patterns and identified predictors among hospitalized COVID-19 patients in rural Central India. This retrospective observational study included 951 laboratory-confirmed COVID-19 patients (aged ≥18 years, hospitalized ≥48 hours) admitted between March 2020 and December 2021. Antibiotic use was assessed using WHO ATC/DDD methodology and Drug Utilization 90% (DU90%) analysis. Predictors of antibiotic prescription were evaluated using multivariable logistic regression. Empirical prescribing was defined as antibiotic initiation without microbiological confirmation. Among 951 patients (mean age 53 ± 15.8 years; 64% male), 54% had ≥1 comorbidity and 74% required oxygen; 20% required mechanical ventilation. Antibiotics were prescribed to 90% (858/951); 46% received two agents and 8% ≥3 agents. The DU90% segment consisted of WHO "Watch" antibiotics, mainly amoxicillin-clavulanate (40.87 g/100 patient-days), doxycycline (18.26), and azithromycin (17.12). However, the use of meropenem (4.04 DDD gm/100 patients) a WHO Reserve group carbapenem is particularly alarming. Elevated C-reactive protein (>10 mg/dL) was the strongest predictor of antibiotic use (adjusted OR 29.28, 95% CI 17.53-48.89; p<0.001). Antibiotic recipients had longer median hospital stays (11 vs 8 days). Overall mortality was 26%. Empirical antibiotic use was extremely high and driven by WHO "Watch" and "reserve" group agents, largely associated with elevated CRP in the absence of culture testing. Strengthening diagnostics and stewardship programs is urgently needed to reduce unnecessary broad-spectrum antibiotic exposure.
 Culture-positive neonatal sepsis is a leading cause of mortality. The emergence of multidrug-resistant (MDR) and extensively drug-resistant (XDR) bacteria exacerbates the clinical outcomes. This study aimed to determine the bacteriological profile and antibiotic resistance patterns of MDR and XDR strains causing neonatal sepsis.  This study aimed to determine the prevalence of culture-positive neonatal sepsis, characterize the bacteriological profile and antimicrobial resistance patterns of multidrug-resistant (MDR) and extensively drug-resistant (XDR) pathogens, and assess clinical outcomes, specifically mortality, in neonates admitted to a tertiary care NICU.  A prospective observational study was conducted from August 2020 to September 2022. Neonates with clinical signs of sepsis and positive blood cultures were enrolled. Bacterial identification and antibiotic susceptibility testing were performed using the VITEK 2 compact automated system (Marcy-l'Étoile, France: bioMérieux). Isolates were classified as MDR or XDR based on standardized international definitions.  Of 120 culture-positive neonates, 100 (83.3%) had bacterial sepsis. Gram-negative bacteria accounted for 67 of 100 bacterial isolates (67%); the most common pathogens were Klebsiella pneumoniae (19/67; 28.4%) and Acinetobacter species (10/67; 14.9%). Overall, 55 of 100 bacterial isolates (55.0%) were multidrug-resistant (MDR), and 19 of 100 (19.0%) were extensively drug-resistant (XDR). High resistance rates were observed for fluoroquinolones (59/98 tested; 60.2%), carbapenems (30/59 tested; 50.8%), and third-generation cephalosporins among Gram-negative isolates (42/66 tested; 63.6%). Among XDR isolates, resistance was 13/14 (92.9%) to piperacillin-tazobactam and 16/17 (94.1%) to cephalosporins. Mortality was higher in XDR cases (6/19; 31.6%) than in MDR cases (7/55; 12.7%).  There is a high burden of MDR and XDR Gram-negative neonatal sepsis, predominantly due to K. pneumoniae and Acinetobacter species. The alarming resistance to last-resort antibiotics underscores the critical need for robust antibiotic stewardship programs and continuous surveillance to prevent the emergence of pan-drug-resistant strains.
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Background Adequate nutrition in the first five years of life is critical for optimal physical growth, cognitive development, and long-term health outcomes. Caregiver feeding practices are an important factor associated with nutritional outcomes in young children with a spectrum of behaviors ranging from responsive feeding to more controlling strategies. While responsive feeding has been linked to better growth outcomes, the impact of specific feeding behaviors on child nutritional status in tertiary pediatric settings in North India remains poorly characterized. Therefore, this study aimed to evaluate caregiver feeding practices using a validated tool and examine their association with nutritional status in children aged 0-5 years. Objectives The objective of this study is to assess caregiver feeding practices using the Feeding Practices and Structure Questionnaire (FPSQ) and examine their association with nutritional status (Indian Academy of Pediatrics {IAP} grading) in children aged 0-5 years attending the outpatient department of a tertiary care pediatric center, in order to identify feeding behaviors associated with malnutrition in this setting. Materials and methods A descriptive cross-sectional study was carried out over a period of three months in the outpatient department of pediatrics at Christian Medical College, Ludhiana. A total of 150 caregivers of children aged 0-5 years were enrolled. After obtaining informed consent, each caregiver was administered a structured questionnaire (Feeding Practices and Structure Questionnaire {FPSQ}), which is a validated tool assessing both feeding practices and feeding patterns. Simultaneously, anthropometric measurements of the children were recorded, and their nutritional status was classified using the Indian Academy of Pediatrics (IAP) grading system. The collected data were analyzed to assess the association between feeding behavior and nutritional status. Results Out of 150 children, 83.3% were normally nourished, 16% had mild malnutrition, and 0.7% had moderate malnutrition. Responsive feeding behaviors such as feeding on demand and shared family meals were the most commonly reported practices. In the milk-feeding group, feeding on demand showed a significant association with better nutritional status (p = 0.015). In the semi-solid group, parent-led feeding was significantly associated with malnutrition (p = 0.008). Conclusion Feeding on demand was associated with better nutritional outcomes in milk-fed children, while parent-led feeding was associated with malnutrition in the semi-solid-feeding group. These findings are hypothesis-generating, given the cross-sectional design, and reverse causality cannot be excluded. Responsive feeding counseling may be a relevant avenue for nutritional improvement in routine pediatric outpatient care.
Asian Americans, one of the fastest-growing racial groups, experienced an increase in cardiovascular disease (CVD) mortality during the COVID-19 pandemic. The objective of our study was to examine specific trends in CVD mortality rates in Asian American subgroups from 2018 through 2022 to better contextualize trends before and after the pandemic. We analyzed US death certificate data for ischemic heart disease (IHD) and heart failure (HF) in non-Hispanic Asian American subgroups (Chinese, Filipino, Asian Indian, Japanese, Korean, and Vietnamese) and Non-Hispanic White individuals before and during the pandemic. We calculated age-standardized mortality rates, proportional mortality ratios, and annual percent change of age-standardized mortality rates for IHD and HF. During the study period, there was no significant change in IHD mortality rate for all Asian American subgroups and for Non-Hispanic Whites during the study period. HF mortality rate significantly increased in Vietnamese American females (11.6% per year [95% CI, 2.2-23.0]). The highest mortality rates were found in Asian Indian and Filipino American males and Asian Indian American females. There was heterogeneity in cardiovascular mortality rates among Asian American subgroups, with IHD mortality rate stagnant in all subgroups between 2018 to 2022 and HF mortality rate increasing among Vietnamese American females during the study period. Greater surveillance of the burden of and mortality from CVD is needed for all Asian American subgroups.
Delirium in older adults is often due to an acute infectious insult or metabolic dysfunction. Traditionally, muscarinic antagonists have been implicated in delirium, but the association remains inconsistent. The delirium-producing effects of medications require a multifaceted understanding that goes beyond their anticholinergic actions and simultaneously considers other medical etiologies. The current study is a subgroup analysis of an 18-month prospective study on dyselectrolytemia conducted in the Department of Geriatric Medicine in a tertiary North Indian hospital. Findings are compared with those of a decade-old study from a non-geriatric service at the same hospital. Among 411 admissions, delirium occurred in 26.5% and was multifactorial in 64.2%. Infections and acute kidney injury were the leading causes. Medications were involved in 23.9%. Medication-induced delirium cases were related to severe hyponatremia or hypernatremia and direct neurological effects, in addition to usual antimuscarinic actions. However, at the study population level, while 3.3-fold higher odds of delirium were observed in patients aged 80 and above, no association was observed with the number of medications or with medications with strong anticholinergic potential. Increasing age was the strongest independent risk factor for delirium. A higher rate of medication-related causes was identified compared to past data from the same center, but different setups preclude any definite conclusions. Medication-induced delirium had a favorable outcome and was reversible in the majority. The study reinforces the role of meticulous medication review in therapeutic decision-making for older persons. The absence of an association with anticholinergic medications may be due to differences in population characteristics, limited statistical power of the study design, and evolving prescribing trends. The delirium-producing risk of individual medication classes warrants further larger studies.
Paediatric palliative care (PPC) in oncology plays a crucial role in enhancing the quality of life for children with cancer and their families. However, outcome measurement in this context remains fragmented, with tools often lacking validation, paediatric specificity, or contextual relevance, especially in low- and middle-income countries (LMICs). This scoping review maps the outcome measurement tools used in paediatric oncology palliative care, examining their assessed domains, psychometric properties and cultural, linguistic and health-system contextual relevance, particularly in LMICs. We systematically searched six databases from 2006 to 2025 and identified 27 eligible studies reporting on 28 unique tools across six key domains: symptom burden, quality of life, psychological well-being, spiritual health, caregiver burden and end-of-life care. While tools like Paediatric Quality of Life Inventory (PedsQL) and Symptom Screening in Pediatrics Tool (SSPedi) showed strong psychometric performance, only a few had been adapted for LMIC contexts. The psychological and spiritual domains were underrepresented, and most tools relied on proxy reporting, which limited child-centred assessments. The findings suggest the need for validated, culturally sensitive and inclusive tools co-developed with children and caregivers. Establishing such outcome measures is essential to ensuring equitable, high-quality palliative care across diverse settings. This review lays the groundwork for developing tools and advancing policies that support comprehensive and compassionate care for children with cancer. Review registration: The review is registered on Open Science Framework (OSF) https://doi.org/10.17605/OSF.IO/G8BN3 .
The Graduate Medical Education Regulations were amended in 2018 to implement the new competency-based medical education curriculum for undergraduate medical students in India from the 2019 admission batch onwards. In this review, we have analyzed the changes introduced in the new curriculum in the discipline of Biochemistry in terms of competencies, domains, levels of competency, teaching-learning methods, assessment methods, certifications, and integrations. Thereafter, we have synthesized and presented our analysis as a narrative review. In this new curriculum, competencies are presented in a tabular form. There are 89 competencies in Biochemistry, including 24 practical competencies. This Biochemistry curriculum covers 77 knowledge and 12 skills competencies. The attitude and communication aspects are taught separately to Phase I undergraduate medical students in Attitude, Ethics, and Communication modules. Teaching-learning methods in Biochemistry include lectures, small-group discussions, bedside clinics, practicals, demonstration-observation-assistance-performance, and skills lab sessions. For Biochemistry, 82 hours of large-group teaching, 157 hours of small-group teaching/practical/tutorial/seminar, and 10 hours of self-directed learning are recommended. The lower tiers of the Miller's pyramid of clinical competence, "knows" and "knows how," are assessed by the written theory examination, while the "shows how" level is assessed by objective structured clinical examinations and direct observation during practical procedure. Eight Physiology competencies are horizontally integrated with the Biochemistry curriculum. 8 Pathology, 4 Dermatology, 1 Ophthalmology, 11 General Medicine, 41 Pediatrics, and 4 General Surgery competencies are vertically integrated with the Biochemistry curriculum. Integrated teaching provides early clinical exposure and helps undergraduate medical students gain a blended concept by linking the topics from the viewpoint of different disciplines.
Infants are more susceptible to malnutrition than older children. The prevalence of severe wasting among Indian infants under-6 months of age is 14.8% according to the National Family Health Survey-4. The myth of complete protection by exclusive breastfeeding is debated when the prevalence of severe acute malnutrition (SAM) sprang up as high as 23.8% in a cross sectional study from Central India among 600 infants. Area under the curve for MUAC <11 cm was 0.936 (95% confidence interval); its sensitivity and specificity were 69.23% and 73.09%, respectively; area under the curve for weight-for-age had higher sensitivity at (88.81%), but lower specificity (61.1%). The highlighted modifiable risk factors were low birth weight and adverse feeding practices. Combined MUAC and weight-for-length screening strategies should be used specifically in low-resource, community-based contexts for SAM in infants aged under six months.
To investigate the human milk oligosaccharide (HMO) composition, longitudinal change and the influence of maternal factors in a multi-ethnic Asian cohort. In the prospective GUSTO mother-offspring cohort, maternal sociodemographic, genetic, and obstetric characteristics were related to the concentrations of the 19 most-abundant HMOs (quantified by HPLC, n = 248 mothers) at 3-weeks (n = 205) and 3-months (n = 114) postpartum (71 matched cases, 28.6%). Mothers providing samples were Chinese (73.8%), Malay (14.5%) and Indian (11.7%). Across ethnicities, individual HMO concentrations and proportions of secretors, were comparable. Approximately 70% were secretors, determined by distinctly higher 2'-fucosyllactose (2'-FL, 3-weeks: 16.0% of total HMO; 3-months: 10.4%) and lacto-N-fucopentaose-I (LNFP-I), compared with non-secretors (2'-FL, 3-weeks, 0.3%; 3-months: 0.2%). 3-fucosyllactose (3-FL) comprised 9.5% and 21.7% of total HMO concentration in secretors and non-secretors, respectively, at 3-weeks, and 30.4% and 42.9%, respectively, at 3-months. Compared with term, preterm cases had higher 3'-sialyllactose (3'SL) at 3-weeks [adjusted mean difference 1.23 SDs (95%CI 0.44-2.01); p = 0.002]. Longitudinal changes in individual HMO concentrations from 3-weeks to 3-months were generally consistent across secretor groups. HMO-secretor-phenotype showed 97% concordance with status predicted by the FUT2 single nucleotide polymorphism (SNP) rs1047781. Chinese, Malay and Indian women exhibited similar HMO compositions, with the FUT2 rs1047781 SNP being a strong determinant of secretor status. Preterm delivery may influence specific early postpartum HMO concentrations, including a higher 3'SL concentration. The concentration of 2'-FL was lower, while 3-FL was higher, compared with published reports on non-Asians, suggesting multi-ethnic studies of infant nutrition and health should consider Asian HMO biology.
Wildfire smoke is an increasing source of pollution in the United States and can affect communities far from active fires. The developing fetus is vulnerable to prenatal smoke exposure, yet existing evidence is focused on a few western states. This population-based retrospective cohort study documents national patterns and trends in prenatal wildfire smoke exposure across geographic and sociodemographic groups. Satellite-based wildfire smoke plumes were combined with restricted-use vital statistics microdata for 34,440,915 live births in the contiguous United States from 2012-2020. Prenatal exposure was measured as the number of days during gestation with medium or heavy wildfire smoke in the mother's county of residence. Changes in median smoke-days, the share of infants prenatally exposed to ≥7 smoke-days, and wildfire-attributed PM2.5 on smoke-days overall and by maternal and county characteristics were examined. Statistical significance was assessed using t-tests and quantile regression. Analysis was performed from March to November 2024. 25.5 million infants (74.2%) had prenatal smoke exposure. 4.3 million (22.7%) births had at least 7 days of exposure in 2016-2020, a significant increase from 2012-2015 (p<0.001). Median exposure significantly increased from 0.6 days in 2012-2015 to 2.0 days in 2016-2020 (p<0.001). Non-Hispanic American Indian/Alaska Native infants, infants living in rural counties, and states in the Upper and Western Midwest and Rocky Mountains faced the highest prenatal exposures. Prenatal wildfire smoke exposure is widespread, increasing, and not confined to regions near active fires. These findings highlight a growing national public health concern and underscore the need for preparedness, targeted prevention, and risk-appropriate care across communities.
To investigate the genetic basis of early-onset systemic lupus erythematosus (EOSLE) in a large Indian pediatric SLE (pSLE) cohort. This prospective observational study investigated monogenic causes in 97 of 365 pSLE patients. Inclusion criteria for the study comprised patients with EOSLE (age ≤8 years) and/or those with a clinical suspicion of monogenic lupus. Monogenic cause was suspected in 97 patients. Genetic screening using targeted next-generation sequencing on the Ion S5 system in 55 of 97 patients [complement defect gene panel in 28 and type 1 interferonopathy gene Interferon (IFN)+ Adaptive Immunity panel in 27] was performed. The remaining 42 patients underwent whole-exome sequencing (WES). Among 97 patients, 22 (22.68%; 11 boys and 11 girls) were found to carry pathogenic variants. Median symptom onset in monogenic cases was 2 years (range: 2 months to 9 years). Monogenic lupus was identified in both EOSLE and older children with strong clinical suspicion. EOSLE patients showed a higher diagnostic yield (28.4%) compared with older children (4.4%). Consanguinity was reported in 7/22 (31.8%) patients. Variants were found in C1QA (n = 7), C1QC (n = 2), C1QB (n = 1), C1R (n = 1), C3 (n = 2), ACP5 (n = 2), STING1, DNASE2, ADAR, TREX1, DNASE1L3, PEPD and SLC7A7 (each n = 1). Monogenic causes were found in at least 6.1% of the overall cohort of pSLE and in 22.7% of genetically screened cases, with the highest yield in EOSLE (28.4%). C1QA was the most common single-gene defect (7.2%). These findings underscore the value of genetic testing in pSLE, especially those with EOSLE or suggestive clinical features.
To describe Kangaroo Mother Care (KMC) practice in the community (cKMC) two months after discharge from the Neonatal Intensive Care Unit (NICU). in South Indian mother-LBW infants. A prospective study enrolling 420 dyads at discharge from the NICU with follow-up on cKMC practice two months after discharge. Factors associated with cKMC were explored using logistic regression. Among the 420 enrolled, 2 (0.5%) infants died, and 12 (2.9%) were lost to follow-up. Of the remaining families, 25% (101) never practiced cKMC, effective practice was done by 19% (77). Infant birth weight ≥ 1.5 kg (OR: 3.1, 95% CI 1.8, 5.3) was associated with higher odds of practicing cKMC, while being born at term (OR: 0.5, 95% CI 0.3, 0.8) and mothers' weight > 45 kg (OR: 0.3, 95% CI 0.1-0.7) was associated with lower odds of practicing cKMC. Continued KMC practice 48 h before discharge was associated with higher odds (OR: 3.4, 95% CI 1.8-6.2), while absence of father's support was associated with lower odds (OR: 0.6, 95% CI 0.3, 1.0) of effective cKMC. The continuum of cKMC after discharge from the NICU was inadequate. Factors associated with cKMC practice should be considered when planning interventions to improve cKMC practices.
Pediatric urolithiasis represents an increasing global health burden, particularly in developing nations. Limited data exist regarding surgical management and outcomes in rural Indian populations. The objective of this study was to analyze the demographic profile, clinical characteristics, surgical interventions, and treatment outcomes of pediatric patients with urolithiasis managed at a rural tertiary care center in North India. This retrospective observational study reviewed records of 46 consecutive pediatric patients (aged ≤18 years) who underwent surgical intervention for urolithiasis at Uttar Pradesh University of Medical Sciences, Saifai, between January 2017 and December 2024. Data on demographics, stone characteristics, surgical procedures, complications, and outcomes were systematically analyzed. The cohort comprised predominantly adolescent males (mean age: 14.2 ± 3.7 years; 76.1% of male), with 100% rural residence. Renal calculi were most common (60.9%), followed by vesical (15.2%) and ureteral stones (10.9%). Percutaneous nephrolithotomy (PCNL) was the most frequently performed procedure (45.7%), followed by open cystolithotomy (13.0%) and ureteroscopy (10.9%). The overall stone-free rate was 95.7%, with complete clearance in 44 patients. No major intraoperative or postoperative complications occurred. Minor complications (Clavien-Dindo Grade I-II) were observed in 21.7% of cases. The mean hospital stay was 6.8 ± 3.2 days. During a median follow-up of 90 days, no stone recurrence was documented among patients with adequate follow-up (≥3 months). Pediatric urolithiasis in rural India predominantly affects adolescent males, with renal stones being most common. Modern surgical techniques, particularly PCNL, achieve excellent stone clearance with minimal morbidity in resource-limited settings. The findings underscore the need for preventive public health strategies and improved healthcare access in rural populations. Résumé Contexte:La lithiase urinaire pédiatrique représente un problème de santé croissant à l’échelle mondiale, particulièrement dans les pays en développement. Les données concernant la prise en charge chirurgicale et les résultats thérapeutiques dans les populations rurales indiennes restent limitées.Objectif:Analyser le profil démographique, les caractéristiques cliniques, les interventions chirurgicales et les résultats du traitement chez les enfants atteints de lithiase urinaire pris en charge dans un centre tertiaire rural du nord de l’Inde.Matériels et méthodes:Cette étude observationnelle rétrospective a inclus 46 patients pédiatriques consécutifs (âgés de ≤18 ans) ayant bénéficié d’une intervention chirurgicale pour lithiase urinaire à l’Université des Sciences Médicales de l’Uttar Pradesh, Saifai, entre janvier 2017 et décembre 2024. Les données démographiques, les caractéristiques des calculs, les procédures chirurgicales, les complications et les résultats ont été analysés systématiquement.Résultats:La cohorte était composée principalement d’adolescents de sexe masculin (âge moyen : 14,2 ± 3,7 ans ; 76,1 % de garçons), avec une origine rurale dans 100 % des cas. Les calculs rénaux étaient les plus fréquents (60,9 %), suivis des calculs vésicaux (15,2 %) et urétéraux (10,9 %). La néphrolithotomie percutanée (PCNL) était l’intervention la plus réalisée (45,7 %), suivie de la cystolithotomie ouverte (13,0 %) et de l’urétéroscopie (10,9 %). Le taux global d’absence de calcul résiduel était de 95,7 %, avec une clairance complète chez 44 patients. Aucune complication peropératoire ou postopératoire majeure n’a été observée. Des complications mineures (Clavien–Dindo grades I–II) sont survenues dans 21,7 % des cas. La durée moyenne d’hospitalisation était de 6,8 ± 3,2 jours. Au cours d’un suivi médian de 90 jours, aucune récidive lithiasique n’a été observée chez les patients ayant un suivi adéquat (≥3 mois).Conclusion:La lithiase urinaire pédiatrique en milieu rural indien touche principalement les adolescents de sexe masculin, les calculs rénaux étant les plus fréquents. Les techniques chirurgicales modernes, en particulier la PCNL, permettent une excellente clairance lithiasique avec une morbidité minimale dans des contextes à ressources limitées. Ces résultats soulignent la nécessité de stratégies préventives de santé publique et d’un meilleur accès aux soins dans les populations rurales.
Genetic disorders contribute significantly to morbidity and mortality in neonatal intensive care units (NICUs), yet data from low- and middle-income settings remain limited. This study evaluated the diagnostic yield and clinical utility of genetic testing in a tertiary care NICU. This retrospective observational study included neonates and young infants who underwent genetic testing in a tertiary NICU in Bengaluru, India, over 67 months (January 2019-July 2024). Genetic variants were classified using American College of Medical Genetics and Genomics criteria. Diagnostic yield and its distribution across clinical phenotypes and inheritance patterns were analysed descriptively. Seventy infants underwent genetic evaluation, with an overall diagnostic yield of 24.3% (17/70). Variants of uncertain significance were identified in 35.7% of cases. Diagnostic yield varied by phenotype, with the highest yield in metabolic/endocrine presentations (50%) and the lowest in non-specific presentations (7.7%). Among confirmed diagnoses, autosomal recessive disorders predominated (47%), followed by autosomal dominant (29%) and X-linked (24%) inheritance. Genetic testing appeared to influence clinical management and family counselling in selected cases, including targeted therapy, treatment modification, and definitive interventions. One infant (1.4%) with an HRAS variant highlighted the evolving clinical relevance of variants of uncertain significance. Genetic testing may provide clinically meaningful diagnoses in a subset of NICU infants, particularly in well-defined clinical phenotypes. A phenotype-driven approach, along with cautious interpretation and follow-up, may help optimise the clinical utility of genomic testing in resource-limited settings. • Genetic disorders contribute substantially to morbidity and mortality in NICU infants. • Genomic testing can improve diagnostic yield, particularly in critically ill neonates with well-defined clinical phenotypes. • This study provides real-world data on genomic testing patterns, diagnostic yield, and clinical utility from a single Indian tertiary NICU. • A phenotype-driven approach showed the highest yield in metabolic/endocrine presentations and supported targeted management and family counselling.
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Only a few studies exist on the risk factors for early progression to chronic kidney disease (CKD) IV-V in children with posterior urethral valves (PUV) following surgery. All children between age of 1 month and 14 years diagnosed with PUV were enrolled and their records were reviewed. n = 44 children enrolled. 15 (34.09%) progressed to CKD IV-V at <5 years of age. Median age of progression 16 months (interquartile range [IQR] 13.08). 28 (63.64%) detected antenatally. Median postnatal age of diagnosis was 5.5 months (IQR 23.13). Mean age at initial management was 5.36 ± 8.30 months in children with CKD IV-V and 4.11 ± 8.56 months in children with CKD I-III (P = 0.65). Postoperative serum creatinine >1 mg/dl was seen in five children with CKD I-III and in 11 children with CKD IV-V. Routine check cystoscopy after 3-6 months revealed residual valves in 11.17 required additional surgeries. 10 with CKD I-III had no renal scarring on DMSA and 19 had unilateral renal scarring. In children with CKD IV-V, two had poorly functioning single kidney with scarring, seven had bilateral renal scarring and DMSA was not done in six children due to severe bilateral dysfunction. On univariate logistic regression, postoperative serum creatinine >1 mg/dl and the presence of bilateral renal scarring on DMSA was significantly associated with early progression to CKD IV-V while additional surgeries had significant protective influence. On multivariate logistic regression, bilateral renal scarring and additional surgeries are significant protection. Bilateral kidney scarring on DMSA scan is a significant risk factor for early progression, whereas additional surgeries have a protective influence.
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