Maya Bhat
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View article: Attenuation of acute kidney injury in a murine model of neonatal Escherichia coli sepsis
Attenuation of acute kidney injury in a murine model of neonatal Escherichia coli sepsis Open
Introduction Sepsis is a risk factor for acute kidney injury (AKI) in neonates, for which no effective treatment exists. The phosphodiesterase inhibitor pentoxifylline (PTX) has demonstrated renal protection from ischemia and inflammation …
View article: L-2-Hydroxyglutaric Aciduria: An Ever-Expanding Phenotypic Spectrum
L-2-Hydroxyglutaric Aciduria: An Ever-Expanding Phenotypic Spectrum Open
Kamath, Sneha Dayanand; Bhat, Maya Dattatraya; Santhosh, Vani; Arunachal, Gautham; AR, Prabhuraj; Kulanthaivelu, Karthik; Ahmed, Sabha; Asranna, Ajay; Kenchaiah, Raghavendra Author Information
View article: FDG-PET in Autoimmune Encephalitis
FDG-PET in Autoimmune Encephalitis Open
Background: Fluorodeoxyglucose-positron emission tomography (FDG-PET) in autoimmune encephalitis (AE) as an adjunctive investigation helps in characterizing the type of AE based on characteristic metabolic patterns. Objectives: We aimed to…
View article: Case Series of Ethylmalonic Encephalopathy from Southern India
Case Series of Ethylmalonic Encephalopathy from Southern India Open
Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This w…
View article: Clinical and laboratory profile of pediatric metachromatic leukodystrophies in a tertiary care center from Southern Part of India
Clinical and laboratory profile of pediatric metachromatic leukodystrophies in a tertiary care center from Southern Part of India Open
A bstract Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder due to the deficiency of arylsulfatase A enzyme. Materials and Methods: This is a retrospective analysis of all clinically suspected MLD …
View article: Disorders of Tetrahydrobiopterin Metabolism: Experience from South India
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India Open
Background: Disorders of tetrahydrobiopterin metabolism represent a rare group of inherited neurotransmitter disorders which manifest mainly in infancy or childhood with developmental delay, neuroregression, epilepsy, movement disorders an…
View article: Can Conventional MRI Features Predict H3K27M Mutation Status of Diffuse Midline Gliomas?
Can Conventional MRI Features Predict H3K27M Mutation Status of Diffuse Midline Gliomas? Open
Purpose Pre-surgical prediction of H3K27M mutation in diffuse midline gliomas (DMG) on MRI is desirable. The purpose of the study is to elaborate conventional MRI (cMRI) of H3K27M-mutant DMGs and identify features that could discriminate t…
View article: Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene
Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene Open
Cribriform appearance of the brain in Canavan disease is a rare finding. The two presented cases broaden the magnetic resonance imaging (MRI) phenotype wherein numerous oval, cystic structures, a few resembling dilated Virchow-Robin (VR) s…
View article: Quantitative Characterization of Tumoural Leakage Phenomena Using Dynamic Susceptibility Contrast Perfusion Imaging 
Quantitative Characterization of Tumoural Leakage Phenomena Using Dynamic Susceptibility Contrast Perfusion Imaging Open
Purpose:Microvascular Leakiness varies between tumours. Extravascular leakage, hitherto the Achilles heel of Dynamic-Susceptibility-Contrast-Perfusion-Weighted-Imaging (DSC-PWI), has lately been quantified by leakage coefficient “K2”. To e…
View article: Siblings with glutaric aciduria type 1 with atypical phenotype with novel pathogenic variant in GCDH gene
Siblings with glutaric aciduria type 1 with atypical phenotype with novel pathogenic variant in GCDH gene Open
Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phen…
View article: Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss
Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss Open
Biotinidase deficiency is a treatable neurometabolic disorder. It usually presents during the first year of life with seizures, ataxia, hypotonia, vision and hearing disturbance, alopecia, and skin rashes. It can have various neuroimaging …
View article: Canavan Disease
Canavan Disease Open
Background: Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population. However, prevalence and presentation of the disease in India is largely unknown; henc…
View article: Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India Open
Gangliosidoses are progressive neurodegenerative disorders caused by the deficiency of enzymes involved in the breakdown of glycosphingolipids. There are not much data about gangliosidosis in India; hence, this study was planned. The aim i…
View article: Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India Open
Neuronal ceroid Lipofuscinosis (NCL), inherited disorders of lysosomal storage disorders, constitute the most common progressive encephalopathies with an incidence of 1.3 to 7 in 100,000 live births. We reported clinical, electrophysiologi…
View article: Sandhoff disease without hepatosplenomegaly due to hexosaminidase B gene mutation
Sandhoff disease without hepatosplenomegaly due to hexosaminidase B gene mutation Open
Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 …