Explanipedia

Sympathovagal crosstalk: Y2-receptor blockade enhances vagal effects which in turn reduce NPY levels via muscarinic receptor activation Open

Neil R Jani, Valerie Y. H. van Weperen, Thamali Ayagama, Jonathan D. Hoang, Maryam Emamimeybodi , et al. · 2025

Aims Ventricular arrhythmias are associated with sympathoexcitation and increased co-transmitter neuropeptide Y (NPY) levels. Vagal nerve stimulation (VNS) has been reported to decrease release of norepinephrine, while NPY has been reporte…

<i>PRRT</i> <i>2</i> -Related Epilepsy Open

Madeline Komar, Jashanpreet Sidhu, J. Joseph, Ashna Kumar, David Callen , et al. · 2025

Pathogenic PRRT2 variants are commonly associated with SeLIE. However, additional epilepsy phenotypes may be observed with heterozygous PRRT2 variants. In individuals with heterozygous PRRT2 variants, corresponding chr…

MOGAD and Mortality: A Rarity Open

Upendra Kumar, Pradeep Kumar Gunasekaran, Ashna Kumar, Daisy Khera, Sarbesh Tiwari , et al. · 2025

Pulse methylprednisolone-induced sinus bradycardia: A rare but must know association Open

Ashna Kumar, Pradeep Kumar Gunasekaran, Sarbesh Tiwari, Daisy Khera, Lokesh Saini · 2024

Chromosome Xp22.3 deletion syndrome with X-linked ichthyosis, Kallmann syndrome, short stature, generalized epilepsy, hearing loss, attention deficit hyperactivity disorder, and intellectual disability – A rare report with review of literature Open

Pradeep Kumar Gunasekaran, Lokesh Saini, Tanuja Rajial, Sujatha Manjunathan, Veena Laxmi , et al. · 2024

Chromosome Xp22.3 deletion syndrome is a very rare contiguous gene deletion syndrome with variable phenotype due to the deletion of genes from the distal short arm of the X chromosome (Xp), including the short-stature homeobox ( SHOX ), an…

Profile of Multisystem Inflammatory Syndrome in Children (MIS-C) in Infants in North India during the Second Wave of SARS-CoV-2 Pandemic Open

Ashna Kumar, Anu Maheshwari, Akanksha Mahajan, Deonath Mahto, Suchitra Sehgal , et al. · 2024

Background: Multisystem inflammatory syndrome in children (MIS-C) secondary to severe acute respiratory syndrome coronavirus-2 has affected not only older children, adolescents, and adults but also infants, more so during the second wave o…

Skraban-Deardorff Syndrome in an Indian Child - A Very Rare Pathogenic Base Pair Deletion in WDR26 Gene Open

Pradeep Kumar Gunasekaran, Ashna Kumar, Kandha Kumar Uk, Veena Laxmi, Sarbesh Tiwari , et al. · 2023

Acute Flaccid Paralysis due to Pyruvate Dehydrogenase E1-Alpha Deficiency Open

Veena Laxmi, Pradeep Kumar Gunasekaran, Ashna Kumar, Sujatha Manjunathan, Sarbesh Tiwari , et al. · 2023

Knobloch Syndrome - Triad of Occipital Encephalocele, Retino-Choroidal Detachment and Epilepsy Open

Pradeep Kumar Gunasekaran, Pooja Jindal, Veena Laxmi, Sujatha Manjunathan, Ashna Kumar , et al. · 2023

Evaluation of Pediatric Leukodystrophies using Magnetic Resonance Imaging: A Prospective Study from North India Open

Sugandhi Malgotra, Ashna Kumar, Manik Mahajan · 2023

A BSTRACT Background: Leukodystrophies are rare genetically determined disorders affecting the process of myelination of the central nervous system that primarily occur in the pediatric age group. These disorders are associated with signif…

Associated movement disorder as a clue for the diagnosis of paroxysmal kinesigenic dyskinesia in a child with focal epilepsy Open

Veena Laxmi, Pradeep Kumar Gunasekaran, Sujatha Manjunathan, Rahul Gupta, Ashna Kumar , et al. · 2023

Childhood-Onset Neurodegeneration with Brain Atrophy in Association with c.628G>A in UBTF Gene Open

Pradeep Kumar Gunasekaran, Veena Laxmi, Sujatha Manjunathan, Ashna Kumar, Sarbesh Tiwari , et al. · 2023

Sedative for Sleep Electroencephalogram Records - A Debate of Ideal vs. Practical Open

Ashna Kumar, Lokesh Saini · 2023

Periodic Jaw-Opening Myoclonus in Subacute Sclerosing Panencephalitis Open

Divyani Garg, Ashna Kumar, Suvasini Sharma · 2023

Developmental delay and assessment in an infant with PCWH syndrome: A case report Open

Suvasini Sharma, Ashna Kumar, Michelledo Rosario, Shahyan Siddiqui, Divyani Garg , et al. · 2023

Peripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene. The SOX10 gene is expressed in the neural crest cell…

Immunomodulation in Sepsis-Induced Macrophage Activation Syndrome in Children Open

Ashna Kumar, Priyanka Choudhari, Anu Maheshwari, R. Ackshya, Deonath Mahto · 2023

Background: Sepsis is a state of systemic inflammation due to an infectious etiology that may lead to multisystem dysfunction, hemodynamic instability, and even death. It has been postulated that there may be an underlying immunomodulatory…

203 Profile of Multisystem Inflammatory syndrome (MIS-C) in infants during the second wave of SARS- CoV-2 pandemic: an observational cross-sectional study Open

Ashna Kumar, Anu Maheshwari, Deonath Mahto, Keshav Mehra · 2022

Aims Multisystem inflammatory syndrome in children (MIS-C) secondary to severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has affected not only the older children, adolescents and adults but also infants, more so during the seco…

375 Self-Limited Epilepsy with Autonomic Seizures (SeLEAS): a case series from a developing country in Asia Open

Ashna Kumar, Keshav Mehra, Suvasini Sharma · 2022

Aims Background/Introduction SeLEAS (Self-Limited Epilepsy with Autonomic Seizures) previously known as Panayiotopolous Syndrome is an age-related epilepsy syndrome associated with autonomic disturbances and nocturnal seizures. It has a pr…

Self-Limited Epilepsy with Autonomic Seizures (SeLEAS): A Retrospective Case Series Open

Aakanksha Anand, Ashna Kumar, Divyani Garg, Bhavya Kansal, Simar Saluja , et al. · 2022

Objective Self-Limited Epilepsy with Autonomic Seizures (SeLEAS), previously known by the eponymous Panayiotopoulos syndrome, is a benign focal epilepsy of the pediatric age group. It is characterized by nocturnal seizures with dominant au…

Clinical Profile of Hospitalised Children with Pleural Effusion Open

Ashna Kumar, Mohd Razaq, Sugandhi Malgotra, Preeti Sharma · 2022

Background: Pleural effusion is the pathological accumulation of fluid in the pleural space. Pediatric pleural effusion usually present with a dynamic profile over time both in terms of its etiology and the causative organisms. This study …

657 Macrophage activation syndrome and sepsis Open

Ashna Kumar · 2021

Background Sepsis is a state of systemic inflammation due to an infectious etiology leading to multisystem dysfunction and death in severe cases. The morbidity and mortality rises further due to an underlying immuno-modulatory process pres…

656 Muco-cutaneous manifestations in children with Thalassemia: An observational study Open

Ashna Kumar, Masarat Jabeen, Preeti Sharma · 2021

Thalassemia syndromes are a group of autosomal, recessively inherited, single-gene hemoglobinopathies with varied mucocutaneous manifestations. There is, however, a scarcity of these findings in the literature. This descriptive observation…

843 Clinico-etiological profile of children with pleural effusion in a developing country: an observational study from a tertiary care centre in North India Open

Ashna Kumar, Sugandhi Malgotra, Mohd Razaq · 2021

Background Pleural effusion is the pathological accumulation of fluid in the pleural space. Pediatric pleural effusion usually present with a dynamic profile over time both in terms of its etiology and the causative organisms. This study a…

Clinical profile of pediatric patients with tuberculosis in a tertiary care centre in India Open

Ashna Kumar, Javid Ahmad, Pooja Bharti, Vasundhara Bakshi · 2020

Background: India has one of the highest TB burden globally. Children contribute a significant proportion of TB burden, in whom the diagnosis can be challenging because many childhood diseases mimic TB. Therefore, a high index of suspicion…

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