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Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFA multi-level analysis of motor and behavioural dynamics in 9-month-old preterm and term-born infants during changing emotional and interactive contexts.
Sci Rep
January 2025
Strathclyde Institute of Education, University of Strathclyde, Lord Hope Building, Glasgow, G4 0LT, UK.
Computational analysis of infant movement has significant potential to reveal markers of developmental health. We report two studies employing dynamic analyses of motor kinematics and motor behaviours, which characterise movement at two levels, in 9-month-old infants. We investigate the effect of preterm birth (< 33 weeks of gestation) and the effect of changing emotional and social-interactive contexts in the still-face paradigm.
View Article and Find Full Text PDFPrimary Renal Neuroblastoma: A Case Report and Review of the Literature.
Curr Pediatr Rev
January 2025
Istanbul University, Oncology Institute, Division of Pediatric Hematology-Oncology, Istanbul, Turkey.
Introduction: Neuroblastoma is the most common extracranial solid tumor found in childhood.
Case Representation: Primary renal neuroblastoma has been reported in the literature as case reports. Almost all cases had a preliminary diagnosis of Wilms tumor and were diagnosed as neuroblastoma after nephrectomy.
Grimontia hollisae, an uncommon cause of sepsis, was identified in a 9-month-old infant in Africa without confirmed seafood consumption. Prompt diagnosis through blood culture and targeted antibiotic therapy ensured recovery, emphasizing the need for increased awareness, enhanced diagnostic tools, and active monitoring of emerging pathogens in tropical and resource-limited regions. We present a case report involving a 9-month-old infant who exhibited symptoms of acute gastroenteritis.
View Article and Find Full Text PDFIntracoronary Tissue Plasminogen Activator Therapy to Treat Thrombotic Occlusion of a Giant Coronary Aneurysm in Early Kawasaki Disease.
Catheter Cardiovasc Interv
December 2024
Department of Fetal, Neonatal and Cardiovascular Sciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Kawasaki Disease (KD) is a systemic vasculitis that can lead to coronary artery aneurysms (CAA) in up to 10% of treated cases, significantly increasing the risk of thrombosis and acute myocardial infarction (AMI). While thrombolytic therapy is commonly used in adult coronary syndromes, its application in pediatric KD remains poorly studied. We report a 9-month-old infant with KD and giant CAA complicated by a subocclusive thrombus in the left anterior descending artery (LAD).
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