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Giant pulmonary vein aneurysm.
Indian J Thorac Cardiovasc Surg
February 2025
Department of Cardiovascular Radiology & Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, 110029 India.
We report a case of a 14-year-old girl with complex congenital heart disease where computed tomography (CT) angiography demonstrated a giant aneurysm of the right inferior pulmonary vein, in the absence of any downstream obstruction. The case highlights the developmental aspects of this rare anomaly in addition to the role of CT angiography in anatomical depiction of structures which are difficult to visualize on transthoracic echocardiography.
View Article and Find Full Text PDFIsolated Fallopian Tube Torsion in a 14-Year-Old Girl: A Case Report and Review of the Literature.
Cureus
December 2024
Department of Medical Checkup, Naha City Hospital, Naha, JPN.
Isolated fallopian tube torsion (IFTT) is a rare cause of surgical emergency and is difficult to diagnose. We present a case of IFTT in a 14-year-old girl who presented with an acute abdomen. Based on the clinical and computed tomographic findings, an initial diagnosis of ovarian torsion was considered.
View Article and Find Full Text PDFGenetic and clinical spectrum of steroid-resistant nephrotic syndrome with nuclear pore gene mutation.
Pediatr Nephrol
January 2025
Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Background: Steroid-resistant nephrotic syndrome (SRNS) is insensitive to steroid therapy and overwhelmingly progresses to kidney failure (KF), the known pathogenic genes of which include key subunits of the nuclear pore complex (NPC), a less-recognized contributor to glomerular podocyte injury.
Methods: After analyzing their clinical characterizations and obtaining parental consent, whole-exome sequencing (WES) was performed on patients with SRNS. Several nucleoporin (NUP) biallelic pathogenic variants were identified and further analyzed by cDNA-PCR sequencing from white cells of peripheral blood, minigene assay, immunohistochemical (IHC) staining, and electron microscopy (EM) ultrastructure observation of kidney biopsy, as well as multiple in silico prediction tools, including 3D protein modeling.
Superior mesenteric artery syndrome in a pediatric patient: A rare case report and literature review.
Int J Surg Case Rep
January 2025
General Surgery Department, Military Hospital of Tunis, Mont Fleury, 1008 Tunis, Tunisia; Faculty of Medicine of Tunis, 15, Djebel Lakhdhar Street, Bab Saadoun, 1007 Tunis, Tunisia.
Introduction And Importance: Superior mesenteric artery (SMA) syndrome, or aorto-mesenteric clamp syndrome, is a rare condition where the third portion of the duodenum is compressed between the aorta and the superior mesenteric artery. This syndrome often affects adolescents and young adults, with predisposing factors including significant weight loss, anatomical variations, and spinal deformities. Early diagnosis and intervention are critical for managing symptoms and preventing complications.
View Article and Find Full Text PDFIsolated fallopian tube torsion with hydrosalpinx in a 14 year old girl: A case report.
Int J Surg Case Rep
January 2025
Ranga Hospital, Coimbatore, India.
Introduction: Isolated fallopian tube torsion (IFTT) is an exceedingly rare but serious cause of acute abdominal pain, especially in pediatric patients, with a reported prevalence of 1 in 1.5 million women. It occurs when the fallopian tube twists around its own axis, leading to venous and lymphatic obstruction, ischemia, and potential necrosis, without involving the ipsilateral ovary.
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