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Fibronectin Glomerulopathy Without Typical Renal Biopsy Features in a 4-Year-Old Girl with Incidentally Discovered Proteinuria and a G417V Gene Mutation.
Int J Mol Sci
January 2025
Department of Pathology, Albert Szent-Györgyi Medical Center, Faculty of Medicine, University of Szeged, 6720 Szeged, Hungary.
Fibronectin glomerulopathy (FG) is caused by fibronectin 1 () gene mutations. A renal biopsy was performed on a 4-year-old girl with incidentally discovered proteinuria (150 mg/dL); her family history of renal disease was negative. Markedly enlarged glomeruli (mean glomerular diameter: 196 μm; age-matched controls: 140 μm), α-SMA-positive and Ki-67-positive mesangial cell proliferation (glomerular proliferation index 1.
View Article and Find Full Text PDFNeovascular Glaucoma as the First Symptom of Bilateral Occlusive Retinal Vasculitis in a 4-Year-Old Girl: A Case Report.
Biomedicines
January 2025
Department of the Pediatric Ophthalmology, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Neovascular glaucoma is a rare and serious condition typically associated with advanced ocular or systemic vascular diseases such as central retinal vein occlusion or diabetic retinopathy. This report describes a unique case of neovascular glaucoma presenting for the first time as an initial symptom of bilateral occlusive retinal vasculitis (ORV) in a generally healthy 4-year-old girl. The patient presented with symptoms of pain and redness in the left eye, accompanied by high intraocular pressure.
View Article and Find Full Text PDFIntroduction: Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating PTH/PTHrP signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature and osteoma cutis. More complex and very early manifestations have also been reported.
View Article and Find Full Text PDFExcision of an intrascleral cyst guided by anterior segment optical coherence tomography.
Digit J Ophthalmol
December 2024
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia.
A 4-year-old girl presented with an enlarging, congenital, intrascleral cyst of the left eye. Intraoperative anterior segment optical coherence tomography was used to visualize and to assess the extent of the cyst, facilitating safe excision. The cyst was completely removed, and the defect was covered with an amniotic membrane graft, with a good outcome.
View Article and Find Full Text PDFIsolation of left brachiocephalic artery in a patient with tetralogy of Fallot.
Ann Pediatr Cardiol
November 2024
Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.
We present the case of a 4-year-old girl with tetralogy of Fallot associated with an incidentally detected isolation of the left brachiocephalic artery, with no communication between it and the pulmonary artery or ductus arteriosus. The case highlights the unusual association and hemodynamic consequences of the condition.
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