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Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFTreatment of a Giant Fusiform Vertebrobasilar Artery Aneurysm in a Hybrid OR: M2-P2 Bypass With Radial Artery Interposition Graft Bypass and Endovascular Coiling: 2-Dimensional Operative Video.
Oper Neurosurg (Hagerstown)
January 2025
Department of Neurosurgery, University of Pennsylvania Health System, Philadelphia, Pennsylvania, USA.
Chromosome-scale genome assembly reveals how repeat elements shape non-coding RNA landscapes active during newt limb regeneration.
Cell Genom
January 2025
Department of Cell and Molecular Biology, Karolinska Institute, 171 65 Stockholm, Sweden. Electronic address:
Newts have large genomes harboring many repeat elements. How these elements shape the genome and relate to newts' unique regeneration ability remains unknown. We present here the chromosome-scale assembly of the 20.
View Article and Find Full Text PDFNew insights into persistent corneal subepithelial infiltrates following epidemic keratoconjunctivitis: The first case report with ultrastructural and immunohistochemical investigations.
Acta Histochem
January 2025
Section of Anatomy and Histology, Imaging Platform, Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, Florence 50134, Italy. Electronic address:
Epidemic keratoconjunctivitis (EKC) is one of the most severe clinical manifestations of human adenovirus ocular surface infection, which may lead to the formation of subepithelial infiltrates (SEIs) in the anterior corneal stroma in 20-50 % of cases. SEIs may be asymptomatic or give rise to corneal aberrations and visual impairment for months or years after acute infection, despite treatments. Here, we describe the ultrastructural and immunophenotypic features of the anterior corneal stroma of a patient who underwent superficial anterior lamellar keratoplasty (SALK) surgery to remove corneal opacities related to clinically significant and steroid-unresponsive, long-lasting SEIs after adenoviral EKC.
View Article and Find Full Text PDFFive-year complete remission of super-giant hepatocellular carcinoma with hepatectomy followed by sorafenib plus camrelizumab: A case report.
World J Gastrointest Surg
January 2025
Department of Gastroenterology and Hepatology, Beijing Youan Hospital, Capital Medical University, Beijing 100069, China.
Background: Cirrhotic patients with super-giant hepatocellular carcinoma (HCC) and portal vein invasion generally have a poor prognosis. This paper presents a patient with super-giant HCC and portal vein invasion, who underwent hepatectomy followed by a combination of sorafenib and camrelizumab, resulting in complete remission (CR) for 5 years.
Case Summary: A 40-year-old male with compensated hepatitis B-related cirrhosis was diagnosed with HCC, Barcelona Clinic Liver Cancer stage C.
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