Indian Journal Of Pediatrics[JOURNAL]

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Inherited Metabolic Disorders in India: Progress and Priorities.

Gupta N, Kapoor S

Indian J Pediatr · 2026 May · PMID 42084818 · Publisher ↗

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When the Eye Peels: An Unusual Harbinger of Kawasaki Disease.

Subhadarshini D, Chakrabarty S, Barman P

Indian J Pediatr · 2026 Jun · PMID 42068477 · Publisher ↗

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Solid Organ Transplantation in Inborn Errors of Metabolism: An Organ-Based, Practice-Oriented Review.

Singh J, Gupta AK, Kapoor S

Indian J Pediatr · 2026 Apr · PMID 42059976 · Publisher ↗

Solid organ transplantation (SOT) has moved from a rescue option to a planned, disease-modifying therapy for selected inborn errors of metabolism (IEMs). In liver-dominant enzymopathies, transplantation can provide clini... Solid organ transplantation (SOT) has moved from a rescue option to a planned, disease-modifying therapy for selected inborn errors of metabolism (IEMs). In liver-dominant enzymopathies, transplantation can provide clinically meaningful metabolic capacity and reduce exposure to recurrent catabolic crises; in kidney- or dual-organ phenotypes, it may offer definitive organ replacement while attenuating the downstream consequences of toxic metabolite burden. It is imperative to understand that transplantation does not “cure” many IEMs: extrahepatic enzyme deficiency, established neurologic injury, and chronic systemic complications can persist, and outcomes depend as much on meticulous perioperative metabolic care and long-term multidisciplinary follow-up as on the surgical act itself. This review synthesizes an organ-based, practice-oriented approach to SOT in IEMs, focusing on (i) the therapeutic intent of transplantation (metabolic replacement, end-organ replacement, or risk-reduction), (ii) indications and timing for liver, kidney, combined liver–kidney, heart, lung, and multivisceral transplantation, (iii) sequencing decisions in dual-organ disease, and (iv) peri-transplant metabolic and immunosuppression considerations that are distinctive to IEM. The decision frameworks and succinct conditions where shared decision-making, and context-sensitive practice in resource-variable settings are also of paramount importance.

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Clitoral Plexiform Neurofibroma in a Child with Neurofibromatosis Type 1.

Mittal A, Osama MA, Dhawan S … +1 more , Kulshrestha R

Indian J Pediatr · 2026 Jun · PMID 42059975 · Publisher ↗

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A Clinically Ultrasound Fusion Visual Prediction Model for Childhood Irreducible Small-Bowel Intussusception.

Qiang H, Li X, Ding Z … +3 more , Li X, Cao Y, Zhu D

Indian J Pediatr · 2026 Jun · PMID 42053898 · Full text

Small-bowel intussusception (SBI) is usually transient, but 10% require surgery. The authors developed a bedside nomogram using routine ultrasound to predict irreducible SBI in 484 children (47 irreducible, 9.7%). LASSO... Small-bowel intussusception (SBI) is usually transient, but 10% require surgery. The authors developed a bedside nomogram using routine ultrasound to predict irreducible SBI in 484 children (47 irreducible, 9.7%). LASSO regression selected five predictors: bloody stool, intussusception diameter and length, bowel wall thickness, and Doppler flow grade. The nomogram demonstrated good discrimination (C-index 0.907, 95% CI 0.869–0.945) and favorable calibration. This bedside tool enables immediate risk stratification using routine ultrasound measurements, potentially reducing unnecessary surgical delays.

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Subtle Clinical Clues for Early Diagnosis of Lethal ORAI1 Deficiency in Infants.

Latheef YA, Vr A, Edavazhippurath A … +12 more , Jain A, Saravanan P, Nair M, Jolly B, Bhoyar RC, Manakkad SP, Puthenpurayil JM, Saphia S, Dhanasooraj D, Sivasubbu S, Scaria V, Govindaraj GM

Indian J Pediatr · 2026 Jun · PMID 42053897 · Publisher ↗

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Clinical Profile and Outcomes of Late-Preterm (≥35 wk) and Term Newborns Transported with Respiratory Support to a Tertiary NICU - A Retrospective Observational Study.

Girinath P, Panigrahy N, Murthy NS … +3 more , Jamalpuri V, Sachane K, Chirla D

Indian J Pediatr · 2026 Jul · PMID 42047741 · Publisher ↗

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Clinical Course and Determinants of Remission in Children and Adolescents with Prediabetes.

Mahapatra A, Bajpai A, Agarwal M … +3 more , Yadav V, Raithatha D, Shukla R

Indian J Pediatr · 2026 Jul · PMID 42036530 · Publisher ↗

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Bridging the Gap in DSD Diagnosis: Role of a Mobile Decision-Support Tool.

Bothra M

Indian J Pediatr · 2026 Jun · PMID 42029884 · Publisher ↗

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Clinical Features and Outcome of Neuropsychiatric Manifestations in Juvenile Onset Systemic Lupus Erythematosus.

Prabhudesai A, Chatterjee R, Lawrence A … +4 more , Misra DP, Agarwal V, Misra R, Aggarwal A

Indian J Pediatr · 2026 Jun · PMID 42026404 · Publisher ↗

OBJECTIVES: To assess the clinical characteristics and outcomes of children with neuropsychiatric systemic lupus erythematosus (NPSLE). METHODS: A retrospective analysis of demographic, clinical and laboratory data of Ju... OBJECTIVES: To assess the clinical characteristics and outcomes of children with neuropsychiatric systemic lupus erythematosus (NPSLE). METHODS: A retrospective analysis of demographic, clinical and laboratory data of Juvenile onset systemic lupus erythematosus (jSLE) patients managed at a tertiary rheumatology clinic over 30 y was performed. Results were expressed as proportions, mean with standard deviation and median. Comparative analyses and multivariate logistic regression were used to identify independent predictors of NPSLE. RESULTS: Among 338 jSLE patients, 25.1% patients had NP manifestations. The mean age at presentation was 13.86 y. Seizures were the most common manifestation (62.3%), followed by psychosis (17.6%), mood disorders (14.1%), neuropathies (8.2%), chorea (4.7%) and transverse myelitis (3.5%). On univariate analysis, serositis, nephritis, constitutional symptoms, higher Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores and lower anti-phospholipid antibodies levels were associated with NPSLE; however, these associations were not significant on multivariate analysis adjusted for age and sex. Among 69 patients with follow-up, (median 55 mo), 76.8% had no recurrences. Recurrent NP manifestations occurred in 10.1%. Residual damage was noted in 4 patients (hearing loss, foot drop, and quadriparesis). Five patients died (2 due to status epilepticus, 1 due to infection and 2 due to non-neurological causes). CONCLUSIONS: NP manifestations occur in a quarter of patients with jSLE. Recurrences and significant morbidity is seen in 10% of patients.

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Pediatric Nephrology in Clinical Practice.

Sinha A, Bagga A

Indian J Pediatr · 2026 May · PMID 42018105 · Publisher ↗

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Laryngeal Tuberculosis in a Child with Nephrotic Syndrome.

Murali S, Varsitha B, Saravanam PK … +3 more , Gunabooshanam B, Sankaranarayanan S, Nagarajan VP

Indian J Pediatr · 2026 Jun · PMID 42014636 · Publisher ↗

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Severe Hyperosmolar Diabetic Ketoacidosis in Children: Diagnostic Challenges and Intensive Care Management.

Elleuch A, Halima AB, Elleuch I … +1 more , Safi F

Indian J Pediatr · 2026 Jun · PMID 42012607 · Publisher ↗

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Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome.

Manisha P, K K S, Thomas D

Indian J Pediatr · 2026 Jun · PMID 42012606 · Publisher ↗

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Eighteen Years of Experience with Newborn Screening in India.

Kumar RK, Prabha N

Indian J Pediatr · 2026 Jun · PMID 42012605 · Publisher ↗

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Hemorrhagic Cardiac Tamponade Due to MRSA Sepsis in a Child with Relapsed Acute Lymphoblastic Leukemia.

Mukherjee S, Bhosle S, Mahajan A

Indian J Pediatr · 2026 Jun · PMID 42012604 · Publisher ↗

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Quality Issues in Medical Genetics Laboratories: "What a Clinician Needs to Know?".

Dutta UR, Shukla R, Verma J … +1 more , Dalal A

Indian J Pediatr · 2026 Apr · PMID 41995975 · Publisher ↗

With the increasing integration of genetic diagnostics into routine clinical care, clinicians need to ensure that laboratory quality testing is met for better result interpretation and patient counseling. Genetic diagnos... With the increasing integration of genetic diagnostics into routine clinical care, clinicians need to ensure that laboratory quality testing is met for better result interpretation and patient counseling. Genetic diagnostic laboratories in India face unique challenges due to diverse methodologies and evolving technologies. This review emphasises the necessity for robust quality assurance systems tailored to the unique requirements of cytogenetics, molecular genetics, and biochemical genetics. Cytogenetic testing requires stringent aseptic sample handling, culture protocols, and microscopy standards for detecting chromosomal abnormalities. Molecular genetic testing should ensure quality DNA extraction, variant-specific PCR validation, and accurate interpretation of variants as per the guidelines. Biochemical genetics, often used for diagnosing metabolic disorders, relies on precise sample requirements, standardising and validating biochemical assay protocols for better reporting. Each field involves distinct pre-testing, testing, and post-testing quality control measures, which must be included in the diagnostic laboratory. Accreditation, participation in external quality assurance schemes, and inter-lab comparison are critical steps toward achieving diagnostic consistency. A systematised quality framework should be adopted by the labs, which is vital for improving diagnostic yield and ensuring clinical utility in genetic medicine.

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Hematohidrosis in a Child.

Dolai TK, Ghosh K

Indian J Pediatr · 2026 Jun · PMID 41995974 · Publisher ↗

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Protocolized vs. Conventional Sedation Among Mechanically Ventilated Children in a Pediatric Intensive Care Unit - A Pre-Post Study: Correspondence.

Uppaluri PB, Angurana SK

Indian J Pediatr · 2026 Jun · PMID 41986817 · Publisher ↗

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Post Diphtheritic Paralysis in an Unimmunised Child.

Goyal A, Singhi P

Indian J Pediatr · 2026 Jun · PMID 41984111 · Publisher ↗

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Indian Journal Of Pediatrics[JOURNAL]

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