Established in 1916, it became part of the Faculty of Medical Sciences, University of Delhi in 1950. The college is funded by the Government of India.
Abstract Background Ghosal hematodiaphyseal dysplasia (GHDD) is a rare hypoplastic anemia characterized increased bone density in the long bones with predominant diaphyseal involvement and a regenerative corticosteroid-sensitive anemia due to bone marrow fibrosis. It follows an autosomal recessive inheritance pattern and is caused by mutations in the TBXAS1 gene. Case presentation: Reporting a case of 18-month-old male with severe anemia, and thrombocytopenia, without any skeletal deformities ultimately diagnosed with GHDD. Bone marrow biopsy revealed reticulin fibrosis, and whole exome sequencing identified biallelic mutations in TBXAS1. The patient was successfully treated with oral prednisolone, leading to improved hemoglobin, platelet counts and overall general wellbeing. Conclusion: Refractory anemia with bone marrow fibrosis should prompt pediatricians to investigate for inherited bony dysplasia. Early molecular diagnosis and treatment significantly improve outcomes in GHDD. This case uniquely demonstrates the diagnosis of GHDD at a pre-radiographic stage, highlighting the critical role of early molecular testing before the development of characteristic skeletal changes.
The reemergence of congenital syphilis, a preventable condition, carries significant implications for both maternal and fetal health. This resurgence is closely linked to the increasing rates of primary and secondary syphilis among women of reproductive age, inadequate access to antenatal care, absence of routine maternal serological testing, and insufficient treatment even when a timely diagnosis is made. In this report, we present the diverse clinical manifestations of syphilis in both mothers and neonates observed at our institution over a one-year period.
Intestinal lymphangiectasia is a protein losing intestinal disease caused by congenital malformation or obstruction of intestinal lymphatics. Based on etiology, it is classified as primary or secondary. Primary Intestinal Lymphangiectasia (PIL) is a rare disorder of intestinal lymphatic dysfunction and may present with a wide spectrum of clinical manifestations but it very infrequently presents as intussusception in children. To the best of our knowledge this is the second only reported case in children, both cases being described from the Indian subcontinent. A 12-year-old male presented complaining of abdominal pain for one week. Examination revealed a palpable mass in the right upper quadrant and abdominal tenderness. A provisional diagnosis of acute intestinal obstruction was made and the child underwent an emergency laparotomy which revealed a segment of distal ileum displaying intussusception. On cut opening, no growth was seen. Histopathology of the telescoped segment showed many ectatic and dilated lymphatic channels filled with lymph. PIL should be considered in the differential diagnosis in children presenting with intestinal obstruction.
Point of care ultrasonography (POCUS) is being increasingly employed in the emergency room as well as in intensive care units (ICUs) to guide rapid management of sick children while avoiding shifting them away from their primary treating physician. The examination must be targeted, with a checklist approach based on clinical signs, to enable both speed and accuracy. This review brings forth some less explored applications of POCUS, in order to expand its scope. The first section deals with thoracic applications, including detailed evaluation of pleural collections and diaphragmatic motility. The second section deals with abdominal applications, including the common causes of acute abdomen in children. The third section deals with evaluation of vessels in shock. Finally, the last section touches upon bedside ultrasonography guided procedures in children. Defined US criteria available in literature for abdominal pathology as well as established indices which can be calculated have been also detailed in this review.
Periodontitis is a chronic inflammatory disorder that has been recognized as a significant public health concern worldwide. An imbalance between the protective oral microbiota and numerous oral pathogens has been implicated in its pathogenesis. Periodontitis not only impacts an individual's oral health but also has systemic implications. The pathogenesis of periodontitis and these respiratory infections has been shown to be intricately linked. Numerous clinical research and animal studies have highlighted that the oral health of a population is closely related to their systemic health. It has been suggested that the periodontal pockets can act as a reservoir for oral pathogens, which can later migrate into the respiratory tract through aspiration or systemic circulation. This is a narrative review conducted after a wide literature search on databases such as PubMed, Cochrane, and Google Scholar with keywords including "Periodontitis," "Respiratory," "Infections," "Tuberculosis," 'COVID-19', "Pneumonia," "Asthma," and "COPD" published in the last 15 years. The cornerstone of this comprehensive review lies in deciphering the pathogenesis and epidemiology of periodontitis and how these periodontal bacteria contribute to respiratory infections through numerous biological mechanisms, inflammatory pathways, and the potential pathways of infection transmission. We also explore the empirical evidence through research studies supporting the periodontitis-respiratory infections link and also studies with conflicting or inconclusive results. By connecting the dots between this crucial oral-systemic link, we hope to uncover the gaps in the current research and find new avenues for developing cost-effective, targeted, transformative preventive and therapeutic strategies that will not only improve oral health but will also support respiratory health and help reduce the global burden of respiratory infections. Strengthening oral hygiene programs could reduce the burden of respiratory diseases, particularly in elderly and high-risk populations.
