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View article: Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate
Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate Open
Financial support for the study was granted by Dale NHMRC Investigator grant APP1193648, Petre Foundation, Cerebral Palsy Alliance, and Ainsworth and SCHF Neuroscience grant scheme.
View article: Outcomes of simultaneous ACL reconstruction with high tibial osteotomy in ACL deficient knees with isolated medial compartment osteoarthritis
Outcomes of simultaneous ACL reconstruction with high tibial osteotomy in ACL deficient knees with isolated medial compartment osteoarthritis Open
Introduction: The aim of our study was to evaluate the clinical and radiological outcomes of simultaneous ACL reconstruction with medial opening wedge high tibial osteotomy in ACL deficient knees with isolated medial compartment osteoarthr…
View article: Predictive value of clinico-radiological variables in the management of suspected foreign body aspiration in children: A ten-year retrospective cohort study
Predictive value of clinico-radiological variables in the management of suspected foreign body aspiration in children: A ten-year retrospective cohort study Open
A BSTRACT Background: Definite history is not always present in children with foreign body aspiration (FBA), hence necessitating a high index of suspicion. Objective: To assess the predictive value of clinico-radiological variables among c…
View article: Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep <scp>(D/EE‐SWAS</scp>)
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep <span>(D/EE‐SWAS</span>) Open
Objective To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike–wave activation in sleep (DEE‐SWAS) and epileptic encephalopathy with spike–w…
View article: A cross-sectional study on allergen reactivity in children using skin prick test
A cross-sectional study on allergen reactivity in children using skin prick test Open
Allergy-related illnesses are currently undergoing a worldwide increase. Infants are particularly susceptible to the substantial health hazards presented by these allergic diseases. Allergens are substantially inducing and exacerbating anx…
View article: Multisystem inflammatory syndrome in children associated with 2019 novel coronavirus (SARS-CoV-2) infection
Multisystem inflammatory syndrome in children associated with 2019 novel coronavirus (SARS-CoV-2) infection Open
Being in the middle of a global pandemic of coronavirus disease (COVID-19), caused by the novel coronavirus SARS-CoV-2 there were never ending speculation regarding the occurrence, causation, spread and treatment of the disease which warra…
View article: Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies Open
We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans.
View article: Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report
Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report Open
We report a 17 day old boy, who developed progressive encephalopathy, after an apparent period of normalcy. Magnetic resonance imaging showed diffusion restriction in myelinated areas like, a pattern suggestive of maple syrup urine disease…
View article: Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders Open
Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly conf…
View article: Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability Open
The conserved transport protein particle (TRAPP) complexes regulate key trafficking events and are required for autophagy. TRAPPC4, like its yeast Trs23 orthologue, is a core component of the TRAPP complexes and one of the essential subuni…
View article: Yield of comparative genomic hybridization microarray in pediatric neurology practice
Yield of comparative genomic hybridization microarray in pediatric neurology practice Open
The use of aCGH led to a pathogenic finding in 8.59% of patients. The results support the use of aCGH as a first tier investigation in children with diverse neurologic disorders, although whole-genome sequencing may replace aCGH as the det…
View article: Fifty years of paediatric neurology in Australasia
Fifty years of paediatric neurology in Australasia Open
Prior to the eighteenth century, the concept of childhood as we see it today did not exist, and children were only infrequently the subject of scientific or medical study (1).Paediatrics developed as a distinct field of medicine in the lat…
View article: Auditory neuropathy in Brown–Vialetto–Van Laere syndrome due to riboflavin transporter RFVT2 deficiency
Auditory neuropathy in Brown–Vialetto–Van Laere syndrome due to riboflavin transporter RFVT2 deficiency Open
Aim Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown–Vialetto–Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with rib…