We report the case of an adult patient, affected by complete transposition of great arteries with ventricular septal defect, who survived until 68 years of age without surgery, thanks to the presence of a common atrium and pulmonary stenosis. ().
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299762 | PMC |
| http://dx.doi.org/10.1016/j.jaccas.2020.06.045 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFTrue Left-Sided Gallbladder: A Case Report of Rare Incidental Findings During Cholecystectomy in a Jordanian Patient.
Cureus
December 2024
General Surgery, Jordanian Royal Medical Services, Amman, JOR.
The biliary system exhibits significant anatomical variations, which pose challenges for most surgeons during cholecystectomy. Among these variations, a true left-sided gallbladder (LSG) is an uncommon finding. In such cases, the gallbladder is located to the left of the round ligament.
View Article and Find Full Text PDFLocal flap guidance for scalp reconstruction following Mohs micrographic surgery.
Arch Dermatol Res
January 2025
Department of Dermatology, University of Texas Medical Branch, 301 University Boulevard, 4.112, McCullough Building, Galveston, TX, 77555, USA.
Keratinocyte carcinomas (KCs) are commonly located on the scalp and often treated with excision with peripheral and deep en face margin assessment (PDEMA), with Mohs micrographic surgery (MMS) being the most frequently used method. Resection of these malignancies results in wounds with a wide variety of sizes, ranging from small, sub-centimeter defects, to extensive, nearly complete scalp defects. MMS is often the preferred treatment for tumor resection and margin clearance, as it allows for maximal healthy tissue preservation and has the lowest recurrence rates.
View Article and Find Full Text PDFExploring the Differential Diagnosis of Adrenal Adenoma in the Context of Situs Ambiguous: A Clinical Case Study.
Medicina (Kaunas)
December 2024
Medical College, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria.
Situs anomalies, including situs inversus and situs ambiguous (SAMB), are rare congenital conditions typically noted in pediatric populations, with SAMB being particularly uncommon in adults. This case study addresses the incidental discovery of situs ambiguous with polysplenia in a 65-year-old man evaluated for suspected adrenal adenoma. The patient's medical history included benign prostatic hyperplasia and tuberculous pleurisy.
View Article and Find Full Text PDFInterpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!