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Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.
Acta Neurol Belg
January 2025
Department of Pediatrics, Neurology Unit, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.
Case Report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait.
Introduction: 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 PDFPseudo-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.
View Article and Find Full Text PDFFirst report of retroperitoneal rhabdomyosarcoma treated with space-making particle therapy for preservation of renal function.
Int Cancer Conf J
October 2024
Department of Radiation Oncology, Hyogo Ion Beam Medical Center Kobe Proton Center, 1-6-8 Minatojima Minamimachi, Chuo-ku, Kobe, Hyogo 650-0047 Japan.
Space-making particle therapy, which consists of surgical placement of a spacer followed by particle therapy, has become a solution to the problem of normal organs being exposed to a high radiation dose. A bioabsorbable spacer is particularly suitable for this purpose, but is not widely used. Surgical placement of a spacer is performed mostly to protect the digestive tract, but can also be used to protect the kidneys.
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