Comparing CT-like bone images based on FRACTURE MR with CT in pediatric congenital vertebral anomalies.

Background And Purpose: Congenital vertebral anomalies are commonly associated with underlying spinal cord anomaly which necessitates imaging both the spinal cord and the bony vertebral column to understand the extent of the deformity better. While MRI is the gold standard for spinal cord imaging, it does not provide CT-like bone details. Many MR bone imaging techniques have been tested in various adult spine conditions in the past decade but not much has been described on their reliability in pediatric spine.

The State of Pediatric Kidney Transplantation in India: A Survey-based Analysis of Practices, Challenges, and Educational Needs.

Background: Technical and immunological advancements have improved patient and graft survival rates in pediatric kidney transplantation (PKT). However, the landscape of PKT in India remains underexplored. We conducted a questionnaire-based survey among Indian pediatric surgeons to delineate contemporary trends in PKT.

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Purpose: Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder characterized by distinctive features including microthrombocytopenia, eczema and recurrent infections. In the present study we report clinical, immunological and molecular spectrum of 41 WAS patients diagnosed over last five years.

Methods: Clinical and family history was collected from case records.

The three stages of polytrauma rehabilitation- a recommendation and a systematic literature review on behalf of SICOT.

Purpose: Polytrauma presents a devastating event with great impact on the patient's life. While we are taking great care of improving our treatment algorithms, the rehabilitation often takes place outside of our direct field of vision. Yet, adequate rehabilitation is crucial for the patients to regain their former lives.

Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency.

Hereditary pulmonary alveolar proteinosis (hPAP) is a rare lung-related primary immunodeficiency. In hPAP, variants of genes encoding the heterodimeric GM-CSF receptor alpha or beta-chains (CSF2Rα, CSF2Rβ) lead to perturbations in GM-CSF signalling. These perturbations impair the scavenging function of pulmonary alveolar macrophages leading to accumulation of surfactant proteins and lipids within the alveoli.

Congenital Infantile Fibrosarcoma - A Potentially Fatal Condition.

Congenital infantile fibrosarcoma (CIF) is a rare prenatal malignant tumour that occurs in infants and can be difficult to distinguish from vascular malformation or haemangiomas. Early diagnosis and treatment are crucial for saving both limb and life. We report a 4-month-old infant with CIF of the left forearm and arm which presented with a bleeding ulcer over the swelling.

A triad of gut dysbiosis, dysregulated immunity, and 'leaky' gut characterize HCMV associated neonatal cholestasis.

Background: Gut microbiome dysbiosis and related immune dysfunction have been associated with the pathogenesis of Human Cytomegalovirus (HCMV) infection in infants with neonatal cholestasis (NC) as previously reported by us. However, the interaction of a perturbed microbiome, HCMV infection, and dysregulated immunity leading to exacerbation of disease severity has not been investigated so far. In this study, we examined the association of gut microbiome, host inflammatory and homeostatic markers that are likely to govern increased pathogenesis of NC in HCMV infected IgM positive infants (N = 15) compared to IgM negative (N = 15) individuals.

Management implications of latent TB among under-five children at risk: Insights from a community study in Mumbai, India.

Background: Latent tuberculosis infection (LTBI) management is crucial to WHO's End TB Strategy. Indian guidelines recommend treating under-five children with household TB contacts after ruling out active TB, regardless of TBI testing. However, the precise LTBI burden among children in high TB burden settings like India is unknown.

Indian Hand Anthropometry: Computer Tomography-Based Morphometric Analysis of Metacarpal.

 Metacarpal fractures are common and have various treatment options, but understanding their morphometry is crucial for optimizing fixation techniques and reducing complications. Accurate assessment of metacarpal anatomy is challenging in conventional radiographs but feasible with computed tomography (CT) scans, which offer precise views. This study aimed to provide accurate anatomical data on metacarpals within an Indian population using CT scans and to compare the results with existing literature.

Bilobed Prepontine White Epidermoid Cyst Camouflaged as Tubercular Abscess: A Case Report.

Epidermoid cysts are ectodermally derived benign extra-axial lesions that have typical imaging characteristics following cerebrospinal fluid (CSF) signal intensity, but occasionally show unusual hyperintensity on T1-weighted images (T1WI), known as white epidermoid, thus posing a diagnostic challenge. We report an unusual case of bilobed prepontine white epidermoid masquerading as tuberculous abscess in a known case of tubercular meningitis.

Pediatric Zinner syndrome variants: Case series with newer insights into pathogenesis in early childhood.

Introduction: Zinner Syndrome (ZS) is a rare congenital disorder characterized by seminal vesicle cysts (SVC) and ipsilateral upper urinary tract abnormalities, mainly due to developmental anomalies of the mesonephric duct. This series highlights our institutional experience with pediatric ZS, with a review of the current literature offering insights into its etiopathogenesis in early childhood.

Material And Methods: A retrospective case review of pediatric ZS diagnosed at our institution from 2019 to 2023, alongside a comprehensive literature review.

Guidelines for Antibiotics Prescription in Critically Ill Patients.

Khilnani GC, Tiwari P, Mittal S, Kulkarni AP, Chaudhry D, Zirpe KG, Guidelines for Antibiotics Prescription in Critically Ill Patients. Indian J Crit Care Med 2024;28(S2):S104-S216.

Exploring serine-arginine rich splicing factors: potential predictive markers for dysregulation in oral cancer.

Background: Dysregulated splicing events are a common phenomenon in cancer with the Serine-arginine-rich splicing factor (SRSF) family emerging as pivotal regulators of gene expression, exerting influence over constitutive and alternative splicing processes. Although aberrations in a few SRSF family members have been implicated in various cancers, the comprehensive roles of other family constituents remain underexplored.

Methods: This study delves into the expression profile of the entire SRSF family (SRSF1-SRSF12) in 23 cancerous cell lines originating from diverse tissues using quantitative Real-Time PCR.

Hip displacement in children with cerebral palsy: surveillance to surgery - a current concepts review.

This review brings together a multidisciplinary, multinational team of experts to discuss the current state of knowledge in the detection and treatment of hip displacement in cerebral palsy (CP), a global public health problem with a high disease burden. Though common themes are pervasive, different views are also represented, reflecting the confluence of traditional thinking regarding the aetiology and treatment of hip displacement in CP with emerging research that challenges these tried-and-true principles. The development of hip displacement is most closely related to gross motor function, with radiographic surveillance programs based on the Gross Motor Function Classification System (GMFCS), the goal being early detection and timely treatment.

A Pilot Survey of Indian Stakeholders: Parents, Doctors, and Grown-Up Patients of Disorders of Sexual Differentiation on Management Decisions and Associated Gender Dysphoria.

Background And Aims: Of late, there are many legal representations from select quarters to halt all medical interventions in children with differences of sex development (DSD). In this survey on management decisions in DSD, we distil the views of Indian stakeholders: parents, physicians, and grown-up patients with DSD on their management decisions to identify decisional satisfaction or gender dysphoria.

Methods: The survey domains included the patient demographics, final diagnosis, decision on the sex of rearing, surgical interventions, opinion of the stakeholders on the preferred age of sex assignment, final sex of rearing, and agreement/disagreement about sex assignment (gender dysphoria).

Endoscopic balloon dilation of esophageal stricture in dystrophic epidermolysis bullosa patient: challenges faced and safety of procedure.

Background: Epidermolysis Bullosa (EB) stands as the prototype category of disorders featuring subepidermal fragility, characterized by skin blistering induced by minimal trauma. The gastrointestinal tract is a common site of extracutaneous injury. Esophageal stricture (ES) is one of the severe complications, with nearly 70% of patients experiencing ES within the initial 25 years of life.

Delayed retrieval of embolized ductal stent: A surgical challenge.

Retrieval of embolized ductal stents from the pulmonary or systemic circulation can be challenging. Most children benefit from surgical shunts in such scenarios. Although early retrieval is advised, stents lodged in the peripheral pulmonary tree can be inaccessible, making the removal complicated.

Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders.

Objective: We aimed to develop consensus for diagnosis/management of SCN8A-related disorders. Utilizing a modified Delphi process, a global cohort of experienced clinicians and caregivers provided input on diagnosis, phenotypes, treatment, and management of SCN8A-related disorders.

Methods: A Core Panel (13 clinicians, one researcher, six caregivers), divided into three subgroups (diagnosis/phenotypes, treatment, comorbidities/prognosis), performed a literature review and developed questions for the modified Delphi process.

Global modified-Delphi consensus on comorbidities and prognosis of SCN8A-related epilepsy and/or neurodevelopmental disorders.

Objectives: We aimed to develop consensus on comorbidities (frequency, severity, and prognosis) and overall outcomes in epilepsy, development, and cognition for the five phenotypes of SCN8A-related disorders.

Methods: A core panel consisting of 13 clinicians, 1 researcher, and 6 caregivers was formed and split into three workgroups. One group focused on comorbidities and prognosis.

Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease.

The diagnosis and treatment of patients with mendelian susceptibility to mycobacterial disease (MSMD) pose consistent challenges due to the diverse infection spectrum observed in this population. Common clinical manifestations include Bacillus Calmette-Guérin vaccine (BCG) complications in countries where routine BCG vaccination is practiced, while in non-BCG-vaccinating countries, Non-Tuberculous Mycobacteria (NTM) is prevalent. In tuberculosis-endemic regions, Mycobacterium tuberculosis (MTB) has a high prevalence, along with other intracellular organisms.

Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.

Mitochondrial disorders are a heterogeneous group of disorders caused by mutations in the mitochondrial DNA or in nuclear genes encoding the mitochondrial proteins and subunits. Polymerase Gamma (POLG) is a nuclear gene and mutation in the POLG gene are one of the major causes of inherited mitochondrial disorders. In this study, 15 pediatric patients, with a wide spectrum of clinical phenotypes were screened using blood samples (n = 15) and muscle samples (n = 4).