Total colonic aganglionosis: management and long-term outcomes at a referral centre.

Objectives: The management of total colonic aganglionosis (TCA) in low-middle income countries (LMIC) is challenging. We aimed to analyze the profile, management, and outcome of patients with TCA at an Indian referral centre.

Methods: A retrospective review of demography, presentation, investigations, and treatment of patients with TCA at a single centre over 22 years with a standardized protocol is detailed.

Untargeted Maternal Plasma Metabolomics in Hirschsprung Disease: A Pilot Study.

Background And Aims: Hirschsprung disease (HSCR) is a congenital disorder of unknown etiology affecting the enteric nervous system (ENS). Since the early gestational development of the ENS is dependent on the prenatal maternal metabolic environment, the objective of this pilot study was to explore the role of specific maternal plasma metabolites in the etiology of HSCR.

Methods: In this cross-sectional study, postnatal (as a surrogate for prenatal) plasma samples were obtained from mothers of children diagnosed with HSCR ( = 7) and age-matched mothers of normal children ( = 6).

Maternal Vitamin A Status as a Risk Factor of Hirschsprung Disease in the Child.

Introduction: The gene-environment interaction of the REarranged during Transfection ( RET ) gene with vitamin A in the etiopathogenesis of Hirschsprung disease (HSCR) has been suggested in rodents. The aim of this study was to evaluate vitamin A status in mothers of children with HSCR and to assess its association with pathogenic variants of the RET gene in affected children.

Methods: This was a case-control study of stable isotope-based vitamin A measurement stores of mothers of children diagnosed with HSCR (within 8 months from birth, n = 7) and age-matched mothers of normal children (n = 6).

Antenatal urolithiasis: A case report.

Introduction: Although pediatric urolithiasis is an established entity, its antenatal diagnosis is rare. We hereby report a case detected at 20 weeks gestation and discuss the etiopathogenesis, predisposition, and surveillance following intervention.

Case Report: A 2-year-old girl with left renal pelvic calculus detected antenatally at 20 weeks was evaluated.

Pelviureteric Junction Obstruction Due to Vascular Anomalies in Children - Simple Surgical Options.

Aims: Pelviureteric junction obstruction (PUJO) due to aberrant lower polar artery is conventionally managed with pyeloplasty. We present our experience of managing PUJO due to "vascular" anomalies-aberrant lower polar artery and vascular adhesions with simpler surgical options.

Subjects And Methods: This is a protocol based, retrospective study of PUJO.

Effects of oxybutynin in children with posterior urethral valves post fulguration: Report in a select cohort of children.

Objectives: Posterior urethral valves (PUV) is the commonest obstructive uropathy with varied consequences. Though valve fulguration is the treatment of choice, appropriate bladder management modifies outcome and includes rational use of anticholinergics. Here, we aim to evaluate the effects of oxybutynin on the bladder and urinary tract morphology and function.

Multiple Atypical Esophageal Foreign Bodies in an Infant.

Foreign body ingestion is a common accidental emergency in children. We report an unusual case of multiple blunt and sharp esophageal foreign bodies in a female infant probably associated with homicidal intent and its management.

Infantile pulmonary tuberculosis: the great mimic.

Purpose: Infantile tuberculosis is common in developing countries and rarely presents as space occupying thoracic lesions mimicking congenital malformations. This case series reviews four such infants with varied presentations and their outcome.

Methods: Four cases of infantile pulmonary/mediastinal tuberculosis that presented like congenital thoracic lesions are described.