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Crowned dens syndrome: a rare differential diagnosis of meningitis.
CJEM
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Department of Emergency Medicine, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Campus Benjamin Franklin, 12203, Berlin, Germany.
Successful One-Step Skin Replantation After Degloving Peno-Scrotal Injury in an 8-Year-Old Boy: A Case Report.
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Department of Pediatric Surgery, Medical University of Warsaw, Warsaw, Poland.
BACKGROUND Perineal injuries affecting the scrotum and penis are rare in pediatric patients, owing to the protective anatomy of the male genitalia. However, when such injuries do occur, timely surgical intervention is crucial. This kind of damage might not be life-threatening but could cause functional disorders and have a huge impact on the patients' psychological condition if not treated appropriately, especially as they enter puberty.
View Article and Find Full Text PDFGenetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
Hum Genet
January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
View Article and Find Full Text PDFCoil embolization of anomalous systemic artery to the left lower lobe in an asymptomatic adult: a case report.
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Department of Radiology, China-Japan Union Hospital of Jilin University, 126 Xiantai Street, Changchun, 130000, Jilin, China.
Background: Anomalous systemic artery to the left lower lobe (ASALLL) is a rare congenital anomaly. The primary symptoms include hemoptysis and lung infection, though some patients may remain asymptomatic. Currently, there is no consensus on the indications for treatment or the optimal choice of therapy for this condition.
View Article and Find Full Text PDFSuccessful thoracoscopic-assisted resection of a functional paraganglioma in the mediastinum with extracorporeal circulation: a case report.
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Department of Thoracic Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, P. R. China.
Background: Paragangliomas are rare neoplasms arising from extra-adrenal chromaffin cells, with mediastinal paragangliomas representing an exceptionally rare subset. This report details the surgical management of a complex mediastinal paraganglioma case, presenting with refractory hypertension and invasion of critical surrounding structures. A comprehensive review of the current literature is included to underscore existing cases, enhance clinical awareness, and share our insights and experience in the diagnosis and treatment of this challenging condition.
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