Explanipedia

Design, Development, and Implementation of India’s National Registry for Rare and Other Inherited Disorders Open

Garima Goel, Neerja Gupta, Satheesh Chitapuram, Anupam Dutta, Mahalakshmi Chandran , et al. · 2025

Background : Rare diseases are a diverse set of disorders that individually affect a relatively small number of individuals but collectively form an important public health problem globally and in India. These diseases are often complex an…

Management of sino-nasal chondrosarcoma presenting as unilateral proptosis Open

Seema Barman, S. Vijaya, Amrita Bhattacharya, Anujeet Paul, Souvik Banerjee , et al. · 2025

Chondrosarcomas comprise a heterogeneous group of malignant lesions with characteristic cartilage matrix production. In the head and neck region, sino-nasal involvement is unusual with nasal congestion and obstruction presenting as primary…

WCN25-2578 CLINICAL CHARACTERISTICS, GENETIC PROFILE AND OUTCOMES OF CHILDREN WITH NON-AZOTEMIC REFRACTORY RICKETS: A COHORT STUDY Open

Bobbity Deepthi, Varna Mathew, Sudarsan Krishnasamy, Prabhaker Yadav, Madhileti Sravani , et al. · 2025

Novel mutation patterns in children with steroid-resistant nephrotic syndrome Open

Narayan Prasad, Jeyakumar Meyyappan, Manoj Dhanorkar, Ravi Kushwaha, Kausik Mandal , et al. · 2024

Background Idiopathic nephrotic syndrome (NS) in children poses treatment challenges, with a subset developing steroid-resistant nephrotic syndrome (SRNS). Genetic factors play a role, yet data on paediatric SRNS genetics in India are scar…

A novel in‐frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation Open

Santasree Banerjee, Qiang Zhao, Bo Wang, Jiale Qin, Xin Yuan , et al. · 2024

Motor proteins, encoded by Kinesin superfamily ( KIF ) genes, are critical for brain development and plasticity. Increasing studies reported KIF ’s roles in neurodevelopmental disorders. Here, a 6 years and 3 months‐old Chinese boy with ma…

Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort Open

Priyanka Srivastava, Shifali Gupta, Chitra Bamba, Roshan Daniel, Parminder Kaur , et al. · 2023

SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries Open

Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur , et al. · 2023

This study summarises findings from the last decade and provides an updated picture of the prevalence of SHOX variations in Asians, emphasizing their potential as therapeutic targets in ISS patients. Further high quality, large inve…

Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis Open

Shagun Aggarwal, Divya Pasumarthi, Priya Ranganath, Kausik Mandal, N. R. Lakshmi , et al. · 2023

Sir, Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachydermia (thickening of the skin), clubbing (acropathy) and periostitis with new bone formation1. It is inherited in …

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population Open

Priyanka Srivastava, Chitra Bamba, Seema Chopra, Minakshi Rohilla, Chakshu Chaudhry , et al. · 2023

Background: Recurrent pregnancy loss (RPL) is one of the most common pregnancy-related complications, which can be stressful and emotionally draining for a couple. Genetic alterations, which are responsible for RPL, can be present in eithe…

Red cell alloimmunization and associated risk factors in multiply transfused thalassemia patients: A prospective cohort study conducted at a tertiary care center in Northern India Open

Narayan Prasad, Rajendra Chaudhary, Priti Elhence, Shubha Rao Phadke, Kausik Mandal , et al. · 2023

BACKGROUND: One of the complications of chronic transfusions in thalassemia is the development of red cell alloimmunization. AIMS: The aim of the study was to determine the frequency, specificity of red cell alloantibodies, and factors inf…

Impact of Genetic Polymorphisms in Modifier Genes in Determining Fetal Hemoglobin Levels in Beta-Thalassemia Open

Poonam Tripathi, Sarita Agarwal, Kausik Mandal, Anshul Gupta, Arkaprabha Sarangi · 2023

Genetic polymorphisms in Quantitative Trait Loci (QTL) genes such as BCL11A, HBS1L-MYB and KLF1 have been reported to influence fetal hemoglobin (HbF) levels. This prospective study was planned to evaluate the role of genetic polymorphisms…

WITHDRAWN: SHOX variations in Idiopathic Short Stature in North India and its overall prevalence in Asia Open

Priyanka Srivast, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur , et al. · 2022

Background Short stature homeobox (SHOX) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). The worldwide prevalence of SHOX variations in ISS varies from 2.5–15%. This study aims to assess …

WITHDRAWN: SHOX variations in Idiopathic Short Stature in North India and its overall prevalence in Asia Open

Priyanka Srivas, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur , et al. · 2022

Background Short stature homeobox (SHOX) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). The worldwide prevalence of SHOX variations in ISS varies from 2.5–15%. This study aims to assess …

1578P Scalp cooling system for prevention of chemotherapy induced alopecia: A single center one-year prospective observational study Open

Vivek Agarwala, C. MV, Ayush Vikas Daga, Manabendra Basu, M. Ganguly , et al. · 2022

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting Open

Aradhana Dwivedi, Amita Moirangthem, Himani Pandey, Pankaj Sharma, Priyanka Srivastava , et al. · 2022

Table of Contents, Volume 188A, Number 8 August 2022 Open

Andrew J. D. Crow, Jennica Janssen, Carolina Marshall, Anne Moffit, Laura Brennan , et al. · 2022

Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients Open

Haseena Sait, Somya Srivastava, Somesh Kumar, Bijo Varughese, Manmohan Pandey , et al. · 2022

Inborn errors of ketogenesis are rare disorders that result in acute and fulminant decompensation during lipolytic stress, particularly in infants and children. These include mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase …

Familial Infantile Liver Failure Syndrome 1: Novel LARS1 Gene Mutation Open

Anita Singh, Kausik Mandal, Manoj Verma, Kirti Naranje, Abhijeet Roy · 2022

Comparing three wearable accelerometers to measure early activity after cardiac surgery Open

Charles H. Brown, Lisa R. Yanek, Ryan Healy, Tiffany Tsay, Junrui Di , et al. · 2022

A Thank You Note for Our Reviewers Open

Abhijit Choudhary, Ajith Kumar, Alka Khadwal, Alok Narasimha, Amarja Ashok Havaldar , et al. · 2022

Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)—A Case Series with Recurrent c.740_741del Variant Open

Mayank Nilay, Anup Rawool, Kausik Mandal · 2021

Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive arthropathy, affecting school-aged children. It is characterized by progressive degeneration of the articular cartilage. The majority of the pathogenic variations are …

Status of Catalase, Glutathione Peroxidase, Glutathione S-Transferase, and Myeloperoxidase Gene Polymorphisms in Beta-Thalassemia Major Patients to Assess Oxidative Injury and Its Association with Enzyme Activities Open

Poonam Tripathi, Sarita Agarwal, Satyendra Tewari, Kausik Mandal · 2021

Beta-thalassemic patients require regular blood transfusion to sustain their life which leads to iron overload and causes oxidative stress. The aim of this study was to investigate the status of variants in genes including GSTM1, GSTT1 (nu…

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians Open

Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham SriLakshmi Bhavani, Samarth Kulshrestha , et al. · 2021

Given the genomic uniqueness, a local data set is most desired for Indians, who are underrepresented in existing public databases. We hypothesize patients with rare monogenic disorders and their family members can provide a reliable source…

Supplementary Material for: Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome Open

Priyanka Srivastava, Sunil Shende, Kausik Mandal · 2021

Shprintzen-Goldberg syndrome (SGS) is autosomal dominant disorder with features of craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, aortic dilatation, and intellectual disability. SGS is …

Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome Open

Priyanka Srivastava, Shashank Shende, Kausik Mandal · 2021

Shprintzen-Goldberg syndrome (SGS) is autosomal dominant disorder with features of craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, aortic dilatation, and intellectual disability. SGS is …

Successful Antenatal Diagnosis and Management of a Rare Case of Congenital Fetal Choledochal Cyst Open

Indu Lata, Ankur Mandelia, Kausik Mandal · 2020

Choledochal cysts is a rare congenital cystic dilatation of common biliary duct. The most common prenatal diagnosed form type- I (85%-90%), consists of fusiform dilation of the common bile duct. There is communication between the bile duct…

Recurrent miscarriage in North Indian population: a study of association of polymorphisms in genes coding for the natural killer: cell receptor natural killer group 2, member D and its ligand MHC class I chain-related protein A Open

Anup Rawool, Satyaprakash Gupta, Bharti Singh, Shubha R. Phadke, Deepti Saxena , et al. · 2020

Background: The objective of this present study was to investigate the possible association of natural killer group (NKG) receptors gene polymorphisms and MHC class I chain-related protein A (MICA) gene polymorphism with recurrent spontane…

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients Open

Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri , et al. · 2020

Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian p…

Steroid Resistant Nephrotic Syndrome with Clumsy Gait Associated With INF2 Mutation Open

Rajiv Sinha, Ranit Maiti, Debaditya Das, Kausik Mandal · 2020

Genetic Variation in SOD1Gene Promoter Ins/Del and Its Influence on Oxidative Stress in Beta Thalassemia Major Patients Open

Poonam Tripathi, Sarita Agarwal, Arkaprabha Sarangi, Satyendra Tewari, Kausik Mandal · 2020

Background: A genetic polymorphism of 50 bp insertion/deletion (Ins/Del) (rs 36232792) in the promoter region of the SOD1 was reported to influence the enzyme activity. The aims of the present study are to evaluate the status of this polym…

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