Purkayastha Jayashree
Department of Paediatrics, Kasturba Medical College Hospital, Manipal University, Manipal, India.
[ 1 ] - I-Cell Disease with GNPTAB Gene Mutation
I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.
[ 2 ] - Heated Humidified High-Flow Nasal Cannula Versus Nasal Continuous Positive Airway Pressure for the Facilitation of Extubation in Preterm Neonates with Respiratory Distress
Background: Heated humidified high-flow nasal cannula (HHHFNC) is gaining popularity as an alternative to nasal continuous positive airway pressure (nCPAP) therapy in the management of preterm neonates with respiratory distress due to ease of administration and patient comfort. However, limited evidence is available addressing its risks and benefits. To study the efficacy and safety of HHHFNC i...
[ 3 ] - Study of Neurodevelopmental Outcomes at 10-14 Months of Age Using Bayley Scale of Infant and Toddler Development in Asphyxiated Newborns with Hypoxic Ischemic Encephalopathy Treated with and without Therapeutic Hypothermia
Background: Therapeutic hypothermia has become an established protocol for all neonates with moderate to severe Hypoxic Ischaemic Encephalopathy (HIE). There are very few studies comparing the neurodevelopmental outcomes in asphyxiated neonates who received therapeutic hypothermia or did not. This study aimed to assess the neurodevelopmental outcomes of asphyxiated neonates with features of HIE...
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