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KaRhab: an international online registry for cardiac rhabdomyomas.
Orphanet J Rare Dis
January 2025
Institute of Human Genetics, Leipzig University Medical Center, Leipzig, Germany.
Background: Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with cardiac RHM in clinical practice remain rare. Clinical information is primarily available in the form of single case reports or smaller studies with a shortage of large-scale reviews encompassing a substantial number of cases.
View Article and Find Full Text PDFGraft-repositioning technique using infusion and small bubbles during Descemet's membrane endothelial keratoplasty.
BMC Ophthalmol
January 2025
Department of Ophthalmology, Department of Visual Sciences, Nihon University School of Medicine, Itabashi, Tokyo, Japan.
Background: Descemet's membrane endothelial keratoplasty (DMEK) is a highly effective procedure for corneal endothelial dysfunction; however, once a DMEK graft is deployed, repositioning can be challenging. Therefore, this study aimed to evaluate the efficacy of a technique that utilizes infusion and small air bubbles to reposition a misaligned deployed graft.
Methods: This retrospective interventional case series enrolled patients who underwent DMEK between January 2022 and July 2023, including cases where the DMEK graft was attached and unfolded in off-center positions".
CSF-Venous Fistulas Arising Intraosseously within Bone Remodeled by Meningeal Diverticula.
AJNR Am J Neuroradiol
January 2025
Department of Radiology (M.D.M.), Permanente Medical Group, Kaiser Permanente Medical Center Santa Clara, Santa Clara, California.
CSF-venous fistulas (CVFs) are a common and increasingly recognized type of spinal CSF leak. Most of these fistulas occur in the setting of spontaneous intracranial hypotension, though nonspontaneous cases have been described as well. In most instances, CVFs arise from the dome or neck of nerve root sleeve diverticula (also called meningeal diverticula).
View Article and Find Full Text PDFCongenital retinal folds.
J AAPOS
January 2025
Department of Ophthalmology and Visual Sciences and Pediatrics, Washington University School of Medicine, St. Louis, Missouri. Electronic address:
Congenital retinal folds (CRFs) are a rare entity, with an incompletely understood pathogenesis. They are often associated with ocular conditions such as familial exudative vitreoretinopathy (FEVR). We present a series of 5 patients with unilateral CRFs who underwent genetic testing.
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