The paper describes a case of hereditary thesaurismosis - galactosemia in neonate infant with mutation of GALT-gene (Q188R/N) and vascular malformation of the internal organs.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
A Rare Case of Anomalous Pulmonary Venous Return.
Echocardiography
January 2025
Department of Ultrasound, Wuhan Asia Heart Hospital Affiliated to Wuhan University of Science and Technology, Wuhan Clinical Medical Research Center of Cardiovascular Imaging, Wuhan, China.
This manuscript presents a rare case of a complex pulmonary venous malposition with an intact atrial septum and ventricular septum. The study demonstrates the diagnostic utility of echocardiography and computed tomography in the evaluation of complex congenital heart disease.
View Article and Find Full Text PDFDownregulation of RhoA/ROCK1/YAP/F-actin causing decreased aortic smooth muscle cell stiffness promotes aortic dissection formation.
Life Metab
October 2024
Department of Vascular Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
Downregulated RhoA/ROCK1/YAP/F-actin axis leads to decreased AoSMC stiffness and promotes AD formation.
View Article and Find Full Text PDFUncovering somatic mosaic variants of -related overgrowth disorders - three cases with different clinical presentations.
Front Genet
January 2025
Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Introduction: related disorders (PRD, OMIM: *171834) are genetic disorders resulting from pathogenic somatic mosaic variants in the gene, which encodes a protein crucial for regulating cell growth and division. PRD typically manifest during the post-zygotic phase, leading to a broad spectrum of overgrowth and vascular malformations affecting various body regions.
Methods: Conventional diagnostic methods struggle to detect and confirm pathogenic PIK3CA gene variants due to the mosaic nature of these disorders and the limited accessibility of affected tissues.
Spontaneous bilateral external jugular venous aneurysm: A series of two case reports.
Radiol Case Rep
March 2025
Ram Manohar Lohia Institute of Medical Science, Lucknow, Uttar Pradesh, India.
Venous aneurysms are fairly rare entities as compared to arterial aneurysms. Very few cases of spontaneous external jugular venous aneurysms are documented in literature without any previous history of trauma. Bilateral involvement is a further scarce finding.
View Article and Find Full Text PDFDuplication of the common bile duct associated with dorsal pancreas agenesis: a diagnostic enigma and a major therapeutic turning point.
J Surg Case Rep
January 2025
Department of General Surgery, Mohammed VI University Hospital, Oujda, Morocco.
We present a pioneering case of a duplication of the common bile duct associated with agenesis of the dorsal pancreas in a 66-year-old man. After an episode of cholestatic jaundice, radiological investigations revealed complex vascular and biliary anomalies, redefining the therapeutic strategy. Instead of risky surgery, endoscopic biliopancreatic drainage resolved the symptoms.
View Article and Find Full Text PDFWant 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!