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First branchial cleft anomalies in children: long-term outcome in 16 patients.
Eur Arch Otorhinolaryngol
January 2025
Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.
Introduction: First branchial cleft anomalies (FBCA) are rare congenital head and neck malformations, often subject to incorrect diagnosis and treatment. We present our experience with FBCA, focusing on clinical presentation, diagnosis, perioperative relation to the facial nerve, surgical approach, complications and patient satisfaction.
Methods: A consecutive cohort of 16 patients undergoing surgical treatment for FBCA between 1999 and 2021 was analyzed.
Percutaneous permeabilisation with electrosurgery of intrahepatic inferior vena cava agenesis in a 12-year-old boy.
Cardiol Young
January 2025
Pediatric Interventional Cardiology Unit, Autònoma de Barcelona University, Vall d'Hebron Hospital, Barcelona, Spain.
We describe a 12-year-old boy with agenesis of the intrahepatic segment of the inferior vena cava (a rare congenital anomaly) in whom an electrified coronary guidewire with electrocautery was used percutaneously to perforate and open the atretic segment, followed by stent implantation. This technique may be a safe and feasible option for paediatric patients, offering a therapeutic alternative for complex cardiac anatomies.
View Article and Find Full Text PDFClinical Diagnosis and Management Challenges of Harlequin Ichthyosis in a Preterm Neonate: A Case Report From Uganda.
Case Rep Dermatol Med
January 2025
Department of Dentistry and Oral Health, Amana Regional Referral Hospital, Ministry of Health, Dar es Salaam, Tanzania.
Harlequin ichthyosis is a rare autosomal recessive genetic disorder resulting from mutations in the gene. It is marked by distinctive skin abnormalities, including armor-like thickened scales separated by deep fissures. This condition is infrequently reported in the African population.
View Article and Find Full Text PDFComplex Presentation of Uterus Didelphys With Bilateral Leiomyomas: A Case Report.
Case Rep Obstet Gynecol
January 2025
Department of Medicine, Ethio Tebib Hospital, Addis Ababa, Ethiopia.
Müllerian duct anomalies and uterine leiomyomas represent distinctive facets of female reproductive health. While uterine leiomyomas are prevalent reproductive pathologies, the coexistence of Müllerian anomalies and leiomyomas is relatively uncommon. This case study examines the complex medical and surgical management of a woman who initially presented with chronic abdominal pain and swelling.
View Article and Find Full Text PDFObstacles to Early Diagnosis of Gaucher Disease.
Ther Clin Risk Manag
January 2025
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the gene. Patients may present with a wide spectrum of disease manifestations, including hepatosplenomegaly, thrombocytopenia, bone manifestations, and in the case of GD types 2 and 3, neurodegeneration, cognitive delay, and/or oculomotor abnormalities. While there is no treatment for neuronopathic GD, non-neuronopathic manifestations can be efficiently managed with enzyme replacement therapy or substrate reduction therapy.
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