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Triple mosaic variants of PURA in a patient with multiple congenital anomalies.
J Hum Genet
January 2025
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
In monogenic diseases, double mosaic variants of the same gene have rarely been identified. Here, we report the case of triple mosaic variants in PURA, a gene responsible for a neurodevelopmental syndrome (OMIM# 616158). Whole-exome sequencing identified three somatic PURA variants in our case with a similar neurodevelopmental syndrome: NM_005859.
View Article and Find Full Text PDFNon-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 PDFA physiotherapeutic approach to a baby with right disgenesis of thumb and left agenesis of upper extremity: A case report.
Prosthet Orthot Int
January 2025
Ida Orthopedics, Istanbul, Turkey.
A boy with bilateral congenital anomalies of the upper extremities with transverse absence of the left arm (agenesis) and absence of right thumb (disgenesis), fixed elbow in extension due to humeroradial synostosis thought that the humerus was intact. His wrist could move passively with 50° flexion, 0° extension, and 70° radial deviation. The other 4 fingers were intact, 4-5 metatarsal bones were in synostosis, and the fifth finger was clinodactyly.
View Article and Find Full Text PDFAnomalous Right Coronary Artery: Culprit or Innocent Bystander?
Case Rep Cardiol
January 2025
Department of Medicine, Division of Cardiology, University of Washington, Seattle, Washington, USA.
Anomalous aortic origin of a coronary artery is a rare congenital heart defect. The detection of anomalous coronary arteries is likely to increase with increased availability and application of cardiac computed tomography and magnetic resonance imaging. Once detected, the recommendation for surgical intervention on anomalous coronary arteries depends upon patient symptoms, the presence or absence of inducible ischemia on stress imaging, and high-risk anatomic features.
View Article and Find Full Text PDFBackground: Pregnant patients with cardiovascular disease (CVD) face increased risk of preeclampsia and preterm delivery, yet data is limited data regarding degree of risk and impact of hypertensive disorders of pregnancy (HDP) on gestational age at delivery.
Objectives: To examine HDP risk and impact on delivery timing in patients with CVD.
Methods: This retrospective cohort study included patients >18 years old who delivered between 10/1/2015 and 12/31/2020 using the Premier Healthcare Database.
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