• Asymmetric papillary muscles are seen in a parachute-like MV. • Parachute or parachute-like MV is associated with other congenital anomalies. • Multimodality imaging can identify concomitant congenital anomalies.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11865811 | PMC |
| http://dx.doi.org/10.1016/j.case.2024.11.002 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unraveling the impact of congenital deafness on individual brain organization.
Elife
March 2025
Department of Neuroscience, Georgetown University Medical Center, Washington DC, United States.
Research on brain plasticity, particularly in the context of deafness, consistently emphasizes the reorganization of the auditory cortex. But to what extent do all individuals with deafness show the same level of reorganization? To address this question, we examined the individual differences in functional connectivity (FC) from the deprived auditory cortex. Our findings demonstrate remarkable differentiation between individuals deriving from the absence of shared auditory experiences, resulting in heightened FC variability among deaf individuals, compared to more consistent FC in the hearing group.
View Article and Find Full Text PDFFractal Dimension Analysis of Peripapillary Microvasculature in Primary Congenital Glaucoma.
J Glaucoma
March 2025
Department of Ophthalmology, Harvey and Bernice Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, AR.
Precis: In this prospective multicenter study, eyes with primary congenital glaucoma exhibited lower retinal vascular parameters compared to healthy controls, as assessed by optical coherence tomography angiography fractal dimension analysis.
Purpose: To study the retino-choroidal peripapillary microvascular pattern in primary congenital glaucoma (PCG) using fractal dimension (FD) analysis and compare it to healthy controls.
Methods: This was a prospective multicenter comparative study.
4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress.
Endokrynol Pol
March 2025
Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi, China.
Introduction: Thiamine-responsive megaloblastic anaemia syndrome (TRMA) is a rare genetic disease caused by mutations in the SLC19A2 gene that encodes thiamine transporter 1 (THTR-1). The common manifestations are diabetes, anaemia, and deafness. The pathogenic mechanism has not yet been clarified.
View Article and Find Full Text PDFGenetic and functional analysis of TUBB1 variants in congenital hypothyroidism.
Endokrynol Pol
March 2025
Medical Genetics Department and Prenatal Diagnosis Centre, The Affiliated Hospital of Qingdao University, Qingdao, China.
Background: Congenital hypothyroidism (CH) is the most common neonatal disorder, primarily caused by thyroid dysgenesis (TD). While the genetic cause has been identified in less than 5% of TD cases, there is an urgent need to investigate additional gene mutations that may be responsible. In 2018, TUBB1 was identified as a novel candidate gene associated with TD.
View Article and Find Full Text PDFTwo New Kindreds with Complete Factor D Deficiency.
Eur J Immunol
March 2025
Department of Immunology, Assistance Publique- Hôpitaux de Paris (AP-HP), Georges Pompidou European Hospital, Paris, France.
Inborn deficiencies of the alternative pathway (AP) of the complement system have been associated with life-threatening infections, mainly by encapsulated bacteria. Complete factor D (FD) deficiencies have been reported in only seven families in the literature. We report two new cases of biochemically and genetically confirmed complete FD deficiency, including the first in a Down syndrome patient.
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!