Natural course and outcomes of children with ubiquitin-specific protease 53 (USP53)-related genetic chronic cholestasis.

Ubiquitin-specific protease 53 (USP53) is essential for formation of cellular tight junctions and variations in this gene disrupt the tight junctions, resulting in cholestasis. We describe the clinical manifestations and outcomes of patients with USP53 mutations from the Indian progressive familial intrahepatic cholestasis registry. All 29 patients who harbored mutations in the USP53 gene either in the homozygous, compound heterozygous, or heterozygous state and presented with cholestasis were included.

Pharmacokinetics of anti-TB drugs in children and adolescents with drug-resistant TB: a multicentre observational study from India.

Background: Drug-resistant tuberculosis (DR-TB) is one of the challenging forms of TB to treat, not only in adults but also in children and adolescents. Further, there is a void in the treatment strategy exclusively for children due to various reasons, including paucity of pharmacokinetic (PK) data on anti-TB drugs across the globe. In this context, the present study aimed at assessing the PK of some of the anti-TB drugs used in DR-TB treatment regimens.

Concomitant Rifampicin-Sensitive Pulmonary Tuberculosis With Pre-extremely Drug-Resistant Neuro-Tuberculosis in Child With Steroid-Resistant Nephrotic Syndrome.

Mixed tuberculosis occurs with multiple clonally distinct mycobacterium tuberculosis strains in an individual. We present a 12-year-old girl with steroid-resistant nephrotic syndrome and drug-sensitive pulmonary tuberculosis (Xpert MTB/Rif) and preextensively drug-resistant tuberculosis neuro-tuberculosis (Line Probe Assay). Mixed tuberculosis involving drug-susceptible and drug-resistant strains can hinder treatment.

Common Salt versus Silver Nitrate for the Treatment of Umbilical Granuloma in Infants: An Open-label, Single-center, Pilot Randomized Controlled Trial.

Aim: This study aims to compare the efficacy and safety of topical application of common salt (CS) in comparison to silver nitrate (SN) for treating infants with umbilical granuloma (UG).

Materials And Methods: We conducted an open-label, prospective, single-center, pilot randomized controlled trial. Thirty-seven infants with a clinical UG diagnosis were enrolled between October 2022 and July 2023, excluding those previously treated for UG.

Analysis of donor morbidity in 177 donor hepatectomies for living donor liver transplant: Experience from a high-volume centre in western India.

Background: Living donor liver transplant (LDLT) is based on the principle of double equipoise. Organ shortage in Asian countries has led to development of high-volume LDLT programs with good outcomes. Safety of live liver donor is the Achilles heel of LDLT program and every effort should be made to achieve low morbidity and near zero mortality rates.

Spinal dysraphism in congenital scoliosis and kyphosis: a retrospective analysis in an Indian population.

Purpose: Early recognition is crucial for occult spinal dysraphism associated with congenital spinal deformities. There is limited literature available on its occurrence in congenital scoliosis and kyphosis in the Indian population.

Methods: Our study involved a retrospective review of 247 children who presented at a single centre.

SMaRT-PCR: sampling using masks and RT-PCR, a non-invasive diagnostic tool for paediatric pulmonary TB.

Key challenges in paediatric TB diagnosis are invasive sampling and poor sensitivity of standard methods. This study demonstrates the diagnostic potential of non-invasive sampling of bioaerosols from children using SMaRT-PCR, comprising mask sampling combined with reverse transcriptase-polymerase chain reaction (RT-PCR) for TB.Exhaled bioaerosols were captured on modified N-95 masks in a 10-min talk-cough-breathe process from 51 children (30 with TB confirmed using standard sampling methods and 21 without TB) aged 2-15 years.

Intractable diarrhea in an infant-autoimmune enteropathy: A case report.

Autoimmune enteropathy is a rare cause of chronic intractable diarrhea and is present in <1 in 100,000 infants. We report the case of a 9-month-old boy who presented with intractable diarrhea and vomiting. Genetic panel testing revealed a STAT3 heterozygous mutation in exon 6, suggesting infantile-onset multisystem autoimmune disease-1.

Genotype correlates with clinical course and outcome of children with tight junction protein 2 (TJP2) deficiency-related cholestasis.

Background And Aims: The study aimed to describe the clinical course and outcomes, and analyze the genotype-phenotype correlation in patients with tight junction protein 2 (TJP2) deficiency.

Approach And Results: Data from all children with chronic cholestasis and either homozygous or compound heterozygous mutations in TJP2 were extracted and analyzed. The patients were categorized into 3 genotypes: TJP2-A (missense mutations on both alleles), TJP2-B (missense mutation on one allele and a predicted protein-truncating mutation [PPTM] on the other), and TJP2-C (PPTMs on both alleles).

New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.

Background: Eighty-five percent of infants with congenital nephrotic syndrome (CNS) and 66% with infantile NS (INS) are likely to have a monogenic etiology. There exists a significant genetic variability between different regions and ethnic groups. This study aimed to determine the genetic defects in children with CNS and INS by establishing a registry in western India.

Effect of delamanid on interim outcomes of bacteriological conversion amongst pediatric drug resistant tuberculosis cases in India.

Aim: To determine the bacteriological conversion rate after 6 months of Delamanid (DLM) based treatment in children with drug-resistant tuberculosis (DR-TB) and determine factors associated with bacteriological conversion.

Methods: This is a descriptive retrospective study done in children between the age of 6-17 years with DR-TB who received DLM-based therapy from October 2018 to May 2021. The drug resistance pattern of TB was detected using Xpert RIF/MTB and phenotypic drug sensitivity testing (DST) on TB-MGIT culture reports.

Retching Without Vomiting With Acute Abdominal Distension: A Clinical Cue.

Gastric volvulus leading to acute gastric dilatation is a rare presentation of congenital diaphragmatic hernia. Urgent detorsion with gastropexy and closure of the diaphragmatic defect are essential to prevent further complications and recurrence. We present a rare case of an infant with acute gastric dilatation due to acute gastric volvulus secondary to congenital diaphragmatic hernia.

Hereditary Ichthyosis With Gastrointestinal Manifestations: A Case Report.

Gut inflammation and defect in the gut mucosal barrier appear to have a correlation with skin diseases and vice versa. The coexistence of hereditary ichthyosis with active colitis has never been reported. We present a 17-year-old female with ichthyosis since birth, abdomen pain for 3 months, with acute colitis.

Endoscopic Removal of a Recurrent Trichobezoar in an Adolescent: A Case Report.

Trichobezoar, a rare condition of intragastric hair accumulation is commonly associated with an underlying psychological condition. Removal of the bezoar either endoscopically or surgically (laparoscopy or laparotomy) with concurrent psychiatric assessment and treatment is the mode of treatment. We present a 10-year-old child with recurrent trichobezoar, who was managed surgically the first time, and subsequently endoscopic removal was done on recurrence of bezoar after 3 months.

Current Challenges of Asian National Children's Cancer Study Groups on Behalf of Asian Pediatric Hematology and Oncology Group.

In Asia, a few countries have a long and established history of collaborative clinical trials successfully formed national children's cancer study groups, but many still do not have such groups. The process of forming national children's cancer groups is fraught with many hurdles, which varies among the countries. One of the basic requirements for running clinical trials is an affordable health care system in which most of the children with cancer can receive the proposed treatment.

Cleavage-resistant RIPK1-induced autoinflammatory syndrome-A report of three generations with periodic fever and clinical response to colchicine.

The clinical syndrome caused by cleavage-resistant RIPK1 is known as CRIA (Cleavage-resistant RIPK1-induced autoinflammatory) syndrome. We present a family with three generations affected by CRIA syndrome. Our index patient (P1), a boy born of a non-consanguineous marriage, developed recurrent episodes of fever after 5 months of age, with variable periodicity.

Application of the Clamshell Thoracotomy in an Infant with a Large Mediastinal Tumor.

Historically it was recommended for emergency thoracotomy in thoracic trauma as the last resort when there was cardiopulmonary arrest. Nowadays, the only indications are lung transplantation and huge mediastinal masses. We report the use of a clamshell thoracotomy in a 7-month-old boy with a large anterior mediastinal mass extending into the bilateral thoracic cavities.