Paediatric Neurology: Archives News of the month
Is Duchenne gene therapy a suitable treatment despite its immunogenic class effect?
Paediatric Neurology 1 min.
Duchenne muscular dystrophy (DMD) is a severe X-linked disorder characterized by progressive muscle weakness and eventual death due to cardiomyopathy or respiratory complications. Currently, there is no cure for DMD, with standard treatments primarily focusing on symptom management. Using immunosuppressive...
Bariatric surgery and semaglutide in a youth with juvenile Huntington disease and severe obesity: a case report
Paediatric Neurology 4 min.
Managing severe obesity in youth becomes more intricate when it intersects with chronic diseases that affect physical, cognitive, and metabolic functions [1, 2]. Conditions such as juvenile Huntington disease (JHD) present unique challenges in obesity management, necessitating a multidisciplinary approach...
Performance properties of filter-paper used in blood spot collection devices for quantitation of phenylalanine
Paediatric Neurology 1 min.
Accurate and precise measurement of dried blood spot (DBS) phenylalanine (Phe) is vital for managing phenylketonuria (PKU). Standard DBS collection devices use grade-226 filter-paper, while the CapitainerB quantitative device utilizes grade-222 filter-paper. Although grade-226 filter-paper performance...
Accelerating Medical Record Data Abstraction and Analysis in Muscular Dystrophy: Large Language Models and International Classification of Diseases Codes.
Paediatric Neurology 1 min.
Muscular dystrophies are characterized by progressive muscle weakness and degeneration. Identifying cases and ing data from electronic medical records (EMRs) is helpful for surveillance and research. However, manual EMR ion is laborious. We studied 2 approaches to accelerate EMR ion: large language models...
Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample
Paediatric Neurology 7 min.
Phenylketonuria (PKU) is a rare genetic disorder that can cause motor deficits, seizures, neurodevelopmental damage, microcephaly, and intellectual disability in untreated individuals [1]. The global prevalence of PKU is estimated to be 1 in 23,930 live births [2]. In Latin America, the prevalence is...
