Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.asjsur.2024.07.257 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Non-visual colour: A qualitative study of how the totally blind and an achromatope navigate colour in the sighted world.
Acta Psychol (Amst)
January 2025
Faculty of Psychology, University of Vienna, Vienna, Austria; Vienna Cognitive Science Hub, Vienna, Austria.
Colour plays an important role in the sighted world, not only by guiding and warning, but also by helping to make decisions, form opinions, and influence emotional landscape. While not everyone has direct access to this information, even people without colour vision (i.e.
View Article and Find Full Text PDFGenetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.
Taiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
View Article and Find Full Text PDFCongenital Chagas disease: A cohort study to assess molecular diagnostic methods at the Chagas disease national reference center of Argentina.
PLoS Negl Trop Dis
January 2025
Centro de Investigaciones Epidemiológica y Salud Pública (CIESP-IECS) CONICET.
Background: Trypanosoma cruzi is a protozoan parasite which causes Chagas disease. Mother-to-child transmission is the main route of transmission in vector-free areas. Congenital Chagas disease refers specifically to cases arising from this route of transmission.
View Article and Find Full Text PDFThree-dimensional speckle-tracking echocardiography-derived deformation analysis of the morphologic left ventricle in adults with corrected dextro-transposition of the great arteries-insights from the CSONGRAD Registry and MAGYAR-Path Study.
Cardiovasc Diagn Ther
December 2024
Department of Medicine, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
Background: Dextro-transposition of the great arteries (dTGA) stands out as a prevalent cyanotic congenital heart defect (CHD), characterized by an intricate reversal in the arrangement of the major arteries. In the past, several surgical procedures have been used to treat dTGA, including the atrial switch. Although the method is no longer used, survivors of the procedure still living among us.
View Article and Find Full Text PDFIntramuscular Cellular Nodules in a Congenital Large Plaque-Like Blue Nevus: Melanoma or Not?
Am J Dermatopathol
December 2024
Department of Surgical Oncology, St. John's Medical College & Hospital, Bangalore, India.
Introduction: Melanoma arising in blue nevus (BN) is usually evident on histopathology. However, there are cases in the gray zone where neither morphology nor immunostains and molecular studies are conclusive.
Case Report: A 33-year-old man presented with greenish discoloration of the abdominal skin at birth.
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!