Portal hypertension in doublecortin domain-containing protein 2 (DCDC2)-related neonatal sclerosing cholangitis.

Mutations in doublecortin domain-containing protein 2 (DCDC2) lead to neonatal sclerosing cholangitis (NSC), and portal hypertension (PHTN). The objective of the study was to systematically evaluate PHTN, variceal bleeding, and outcomes of patients with DCDC2-related NSC. The study included children with homozygous or compound heterozygous variants in DCDC2.

Point-of-care lung ultrasound in the diagnosis of childhood pneumonia.

Introduction: Lung ultrasound is emerging as a rapid, simple and safe alternative for diagnosing pneumonia since it has a higher sensitivity than X-rays and lower radiation exposure than computerized tomography. This is a prospective observational study done at a tertiary care centre in Chennai to study the diagnostic utility of lung ultrasound in pneumonia.

Methods: Children aged 1 month to 12 years who were admitted to the hospital with complaints of cough, fever and/or breathing difficulty and on examination had tachypnea and/or chest indrawing were included in the study.

The disappearing lesion in the cricopharynx: A hypopharyngeal cushion.

A 2-year-old girl presented to our aero-digestive clinic with complaints of dysphagia to solids. On awake endoscopy, a bluish, expansile lesion was noticed. posterior to the arytenoids, which became prominent when crying.

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.

Inflammatory cytokine responses in pediatric tuberculosis with or without SARS-CoV-2 seropositivity.

Objectives: To characterize the inflammatory cytokine profiles in children with TB in the presence and absence of SARS-CoV2 seropositivity.

Methods: This study evaluated cytokine responses in two groups of children with TB: CoV2+ (TB and SARS-CoV2 seropositive) and CoV2- (TB and SARS-CoV2 seronegative). Each group had 30 children, and cytokine levels were measured at baseline, months 3 and 6.

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.

Utility of anthropometry in defining overweight and obesity in urban South Indian children.

Introduction: Waist-based indicators of obesity are being used to detect central obesity and are predictive for metabolic syndrome (MS). The aim of the study is to assess the basic anthropometric indices in children, to determine the prevalence of overweight and obesity, and to determine the association between various waist-based measurements and body mass index (BMI).

Methodology: A cross-sectional study was conducted among children aged 10 to 15 years attending government corporation schools in Chennai.

Diagnosis and management of pediatric acute liver failure: consensus recommendations of the Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition (ISPGHAN).

Timely diagnosis and management of pediatric acute liver failure (PALF) is of paramount importance to improve survival. The Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition invited national and international experts to identify and review important management and research questions. These covered the definition, age appropriate stepwise workup for the etiology, non-invasive diagnosis and management of cerebral edema, prognostic scores, criteria for listing for liver transplantation (LT) and bridging therapies in PALF.

Xpert MTB/RIF assay in the diagnosis of pulmonary tuberculosis in children in tertiary care setting in South India.

Xpert MTB/RIF is recommended for the diagnosis of tuberculosis (TB) in children. We determined the performance of Xpert MTB/RIF in the diagnosis of pulmonary TB in children. The characteristics of children influencing Xpert MTB/RIF positivity were explored.

Prevalence of non- SARS CoV-2 respiratory virus infection in children during COVID-19 pandemic in Chennai, South India.

Acute respiratory virus infections (ARIs) are a significant cause of morbidity and mortality among children worldwide. Respiratory viral infections in children have been significantly impacted during the COVID-19 pandemic. Variations in the prevalence of respiratory virus infections have been associated with the COVID-19 pandemic, which corresponds to the clinical epidemiology of community-acquired respiratory viruses.

Clinical Profile of Children with Adenovirus Infection - A Hospital-based Observational Study.

Objective: To describe the clinical profile and determine the factors affecting mortality of children admitted with adenovirus infection in a tertiary care centre in South India.

Methods: In this observational study, respiratory specimens (nasopharyngeal swab / endotracheal aspirate) were collected from all hospitalized pediatric patients presenting with fever, cough, breathlessness, gastrointestinal symptoms, unexplained encephalopathy or multisystem involvement, between February 2023 and August 2023. Infection with adenovirus was determined by viral pathogen panel based on polymerase chain reaction (PCR) technique.

A Novel Case of Mutation Presenting as Hyperkinetic Movement Disorder.

mutation is most often associated with Dravet syndrome, which is characterized by severe encephalopathy. One of the other presentations of mutation is developmental and epileptic encephalopathy-6B (DEE6B). It is a severe neurodevelopmental disorder characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder.

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).

Sex-specific differences in systemic immune responses in MIS-C children.

Multisystem Inflammatory Syndrome in Children (MIS-C) is a rare manifestation of Severe Acute Respiratory Syndrome-CoronaVirus-2 (SARS-CoV-2) infection that can result in increased morbidity and mortality. Mounting evidence describes sex disparities in the clinical outcomes of coronavirus disease 2019 (COVID-19). However, there is a lack of information on sex-specific differences in immune responses in MIS-C.

Hospital-based norovirus surveillance in children <5 years of age from 2017 to 2019 in India.

After the introduction of the rotavirus vaccine into the Universal Immunization Program in India in 2016, relatively few studies have assessed the prevalence and epidemiological patterns of acute gastroenteritis (AGE) among hospitalized children ≤5 years of age. We used a uniform protocol to recruit children with AGE as well as standardized testing and typing protocols. Stool specimens from children with AGE younger than 5 years of age admitted to six hospitals in three cities in India were collected from January 2017 through December 2019.

Multisystem inflammatory syndrome in children characterized by enhanced antigen-specific T-cell expression of cytokines and its reversal following recovery.

Background: Multisystem inflammatory syndrome (MIS) in children is considered to be a post-infectious complication of COVID-19. T-cell responses in children with this condition have not been well-studied.

Methods: We aimed to study the immune responses in children with MIS in comparison to children with acute COVID-19 and children with other infections.

Immune Profiles in Multisystem Inflammatory Syndrome in Children with Cardiovascular Abnormalities.

Background: Multisystem inflammatory syndrome in children (MIS-C), a sequela of severe acute respiratory syndrome coronavirus-2 infection (SARS-CoV2), has been progressively reported worldwide, with cardiac involvement being a frequent presentation. Although the clinical and immunological characteristics of MIS-C with and without cardiac involvement have been described, the immunological differences between cardiac and non-cardiac MIS-C are not well understood.

Methods: The levels of type 1, type 2, type 17, other proinflammatory cytokines and CC chemokines and CXC chemokines were measured using the Magpix multiplex cytokine assay system in MIS-C children with MIS-C cardiac (MIS-C (C) ( = 88)) and MIS-C non-cardiac (MIS-C (NC) ( = 64)) abnormalities.

Estimating the impact of improved management of haemophilia a on clinical outcomes and healthcare utilisation and costs.

Objective: Haemophilia A (HA) is associated with high clinical and healthcare burden. We developed an Excel-based model comparing current practice to improved management in severe HA patients currently managed on demand (OD). Outcomes included short- and long-term bleed events.

Characteristics, Surgical Management, and Outcomes of Parotid Gland Masses in the Pediatric Age Group: A Single Tertiary Institute Experience.

Context: Parotid gland lesions in children requiring surgical management are not common. Neoplastic lesions of the parotid glands are also less common. Parotid tumors in children have different characteristics from those that occur in adults.

Inadequate Lopinavir Concentrations With Modified 8-Hourly Lopinavir/Ritonavir 4:1 Dosing During Rifampicin-based Tuberculosis Treatment in Children Living With HIV.

Background: Lopinavir/ritonavir plasma concentrations are profoundly reduced when co-administered with rifampicin. Super-boosting of lopinavir/ritonavir is limited by nonavailability of single-entity ritonavir, while double-dosing of co-formulated lopinavir/ritonavir given twice-daily produces suboptimal lopinavir concentrations in young children. We evaluated whether increased daily dosing with modified 8-hourly lopinavir/ritonavir 4:1 would maintain therapeutic plasma concentrations of lopinavir in children living with HIV receiving rifampicin-based antituberculosis treatment.

Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia.

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, genetic, autosomal recessive disorder characterized by severe thrombocytopenia, due to inefficient bone marrow megakaryopoiesis eventually leading to aplasia. Majority of the cases are due to homozygous or compound heterozygous mutations in MPL gene encoding for thrombopoietin (THPO) receptor protein. CAMT can be diagnosed at early phase of life, with major complication of transfusion dependency and hematopoietic transplantation as only curative treatment.

Clinical profile of Laron dwarfism - experience from a tertiary care institute in Chennai.

Objectives: Laron dwarfism is a rare genetic disorder first reported among Israeli jewish children, subsequently about 350 cases cases have been reported worldwide. We aim to describe the clinical profile of nine children with Laron dwarfism from Institute of Child Health, Chennai.

Methods: Analysis of case records from 2010 to 2018.