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Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia.
Ophthalmol Ther
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.
Introduction: Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry.
View Article and Find Full Text PDFIntraventricular baclofen for the treatment of pediatric spasticity in cerebral palsy: technique and outcomes.
J Neurosurg Pediatr
January 2025
Departments of1Neurosurgery and.
Objective: Intraventricular baclofen (IVB) administration is used for the treatment of secondary dystonia associated with cerebral palsy (CP), but it has not been reported as a first-line infusion technique for spasticity. In this study, the authors report outcomes of patients with mixed or isolated spasticity treated with IVB administration.
Methods: A retrospective analysis was performed of consecutive patients treated with IVB between 2019 and 2023.
Analyzing exosomal miRNA profiles in tetralogy of fallot fetuses' amniotic fluid.
Sci Rep
January 2025
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian, China.
Amniotic fluid (AF)-derived exosomal miRNA have been explored as potential contributors to the pathogenesis of Tetralogy of Fallot (TOF). This study aimed to investigate the expression profiles of AF-derived exosomal miRNAs and their potential contribution to TOF development. Exosomes were isolated from AF samples obtained from pregnant women carrying fetuses diagnosed with TOF.
View Article and Find Full Text PDFWhole Exome Sequencing in a Population of Fetuses With Structural Anomalies.
Prenat Diagn
January 2025
Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Objective: To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child.
Methods: A single-center retrospective chart review was conducted on 397 anomalous fetuses that underwent ES from May 2012 through December 2023. Medical record review included demographics, imaging, and genetic testing.
Infantile Dilated Cardiomyopathy in Alström Syndrome.
Cureus
December 2024
Congenital and Pediatric Cardiology, Department of Pediatrics, University Hospital Saint-Luc, Brussels, BEL.
We report two cases of end-stage dilated cardiomyopathy as the initial manifestation of Alström syndrome (ALMS), in infants aged two and five months. This rare monogenic, autosomal, and recessive genetic condition is a multisystem disorder characterized by visual and hearing impairment, cardiomyopathy childhood obesity, and other anomalies. These cases highlight the importance of genetic testing targeting the ALMS1 gene in the assessment of apparently isolated dilated cardiomyopathy.
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