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Successful One-Step Skin Replantation After Degloving Peno-Scrotal Injury in an 8-Year-Old Boy: A Case Report.
Am J Case Rep
January 2025
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.
J Cardiothorac Surg
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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.
J Cardiothorac Surg
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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.
View Article and Find Full Text PDFClinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report.
BMC Pediatr
January 2025
Geriatric Mental Health Research Center, Department of Psychiatry, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Background: This case report describes a unique presentation of sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) caused by a rare SGPL1 variant, highlighting the diagnostic and management challenges associated with this condition.
Case Presentation: A 2-year-old Iranian female presented with steroid-resistant nephrotic syndrome (NS), primary adrenal insufficiency (AI), growth delay, seizures, and hyperpigmentation. Laboratory evaluation revealed hypoalbuminemia, significant proteinuria, hyperkalemia, and elevated adrenocorticotropic hormone (ACTH) levels.
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