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A Concurrent Validity Study of the Mullen Scales of Early Learning (MSEL) and the MacArthur-Bates Communicative Developmental Inventory (CDI) in Infants with an Elevated Likelihood or Diagnosis of Autism.
J Autism Dev Disord
January 2025
Faculty of Psychology, University of Warsaw, Warsaw, Poland.
Infants at elevated likelihood for or later diagnosed with autism typically have smaller vocabularies than their peers, as shown by the Mullen Scales of Early Learning (MSEL) and the MacArthur-Bates Communicative Developmental Inventory (CDI). However, the extent to which MSEL and CDI scores align remains unclear, especially across clinical and non-clinical populations. This study examined whether the concurrent validity of the MSEL and CDI differs based on autism likelihood and diagnosis.
View Article and Find Full Text PDFIntroduction: Chordoma is a rare, slow-growing notochordal neoplasm typical of adults. Less than 5% of the cases occur in children, where they are located at the skull base. Treatment involves surgical resection with or without radiotherapy.
View Article and Find Full Text PDFInfantile Aggressive Aneurysmal Bone Cyst of the Proximal Femur: A Rare Clinical Presentation.
Cureus
December 2024
Orthopaedics and Traumatology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, TUR.
Aneurysmal bone cysts (ABCs) are aggressive, osteolytic lesions usually seen in childhood and young adulthood. The patient's age, location, and behavior of the lesion in the bone may cause patients to present with different clinical findings. Appropriate treatment of these rare, aggressive bone lesions is essential for recurrence.
View Article and Find Full Text PDFDiagnosis of Congenital Cytomegalovirus in a 14-Month-Old Patient Presenting with Sensorineural Hearing Loss: Storing Dry Blood Samples.
Turk Arch Pediatr
January 2025
Division of Child Neurology, Department of Pediatrics, Kocaeli University School of Medicine, Kocaeli, Türkiye.
Pseudo-Bartter syndrome: A CFTR-related disorder?
J Cyst Fibros
October 2024
Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Belgium; Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium.
This case report presents a 14-month-old boy with a history of cystic fibrosis (CF) carrier status, diagnosed following a positive newborn screening for CF (CF-NBS), who developed symptoms suggestive of Pseudo-Bartter syndrome (PBS). Despite initial evaluations not meeting CF diagnostic criteria, subsequent investigations revealed an intermediate sweat chloride concentration, a second CFTR mutation, and CFTR dysfunction through rectal organoid morphology analysis (ROMA) consistent with CFTR-related disorder (CFTR-RD). This case raises important considerations regarding the diagnosis and management of CFTR-RD.
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