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Identification of Intracranial Germ Cell Tumors Based on Facial Photos: Exploratory Study on the Use of Deep Learning for Software Development.
J Med Internet Res
January 2025
Department of Radiation Oncology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Background: Primary intracranial germ cell tumors (iGCTs) are highly malignant brain tumors that predominantly occur in children and adolescents, with an incidence rate ranking third among primary brain tumors in East Asia (8%-15%). Due to their insidious onset and impact on critical functional areas of the brain, these tumors often result in irreversible abnormalities in growth and development, as well as cognitive and motor impairments in affected children. Therefore, early diagnosis through advanced screening techniques is vital for improving patient outcomes and quality of life.
View Article and Find Full Text PDFFirst 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.
Clinical 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 PDFTherapeutic Dilemma of a Juxtapapillary Retinal Capillary Hemangioma.
Cureus
December 2024
Department of Ophthalmology and Visual Science, Ophthalmology Clinic, Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, Kubang Kerian, MYS.
A juxtapapillary retinal capillary hemangioma (JRCH) is a rare vascular hamartoma located on the optic nerve head or adjacent region. While often associated with von Hippel-Lindau (VHL) disease, JRCHs can also occur as an isolated condition, presenting unique therapeutic challenges and risks of visual impairment. We report a case of a 50-year-old Malay gentleman with diabetes mellitus who presented with a non-progressive superior visual field defect in his left eye for three months.
View Article and Find Full Text PDFUsing cortical organoids to understand the pathogenesis of malformations of cortical development.
Front Neurosci
January 2025
Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Malformations of cortical development encompass a broad range of disorders associated with abnormalities in corticogenesis. Widespread abnormalities in neuronal formation or migration can lead to small head size or microcephaly with disorganized placement of cell types. Specific, localized malformations are termed focal cortical dysplasias (FCD).
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