To report a case of congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) with depigmentation at the margin. Case report. A 40-year-old Indian female was noted to have a small pigmented lesion with a depigmented margin toward the fovea in the right eye. The best-corrected vision was 6/6 in either eye. The optical coherence tomography revealed a highly reflective lesion at the retinal surface causing a shadow effect, suggestive of CSHRPE. Imaging features of a patient with CSHRPE with a crescent-like depigmented area at the margin are presented.
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http://dx.doi.org/10.3205/oc000112 | DOI Listing |
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFFuture Cardiol
January 2025
Division of Cardiac Surgery, University of Toronto, Toronto, ON, Canada.
Reaching competency in congenital heart surgery (CHS) requires lengthy and rigorous training. Due to patient safety, time limitations, and procedural complexity, the intraoperative setting is not ideal for technical practice. Surgical simulation using synthetic, biological, or virtual models is an increasingly valuable educational tool for technical training and assessment.
View Article and Find Full Text PDFHealthcare (Basel)
January 2025
Department of Clinical Nutrition, Faculty of Applied Medical Sciences, King Abdulaziz University, P.O. Box 80324, Jeddah 21589, Saudi Arabia.
Toxoplasmosis is an infection caused by the parasite and is considered asymptomatic in most cases. In pregnant women, however, the disease can be transmitted to the foetus, causing severe congenital consequences. Congenital toxoplasmosis can be avoided by practising simple preventive lifestyle measures during pregnancy.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
View Article and Find Full Text PDFJ Cardiothorac Surg
January 2025
Department of Cardiac Surgery, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, 400038, China.
The Cox-Maze IV (CMIV) procedure is the mainstay in surgical treatment of atrial fibrillation (AF), but the rate of AF recurrence after the CMIV procedure in patients with persistent AF is difficult to accurately evaluate. In this study, we aimed to develop and validate a risk prediction model of AF recurrence within 1 year after undergoing the Cox-Maze IV procedure. We retrospectively enrolled 303 consecutive patients who underwent the Cox-Maze IV procedure for persistent AF concomitant with other cardiac procedures at our institute between 2019 and 2021.
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