Results 141 to 150 of about 50,725 (308)

Mitral and tricuspid valve repair in an operated case of complete atrioventricular septal defect: A surgical challenge case report!

SAGE Open Medical Case Reports
Atrioventricular canal defects constitute about 3%–5% of total congenital heart defects, with a prevalence of 0.3–0.4/1000 live births. Mitral valve defects are associated with atrioventricular canal (septal) defects in most cases.
Dhanesh Kumar, Amit Chandra, Naresh Trehan, Shital Prakash, Yatin Mehta, Manisha Mishra, Surinder Bazaz, Sanjeev Chandna   +7 more
doaj   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, EarlyView.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Atrial cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 727-729, April 2025.
Wojciech Kosmala, Monika Przewłocka‐Kosmala   +1 more
wiley   +1 more source

Age‐Dependent Correlation of Pulmonary Function Impairment and Aortic Arch Stiffness in Mice

Pediatric Discovery, EarlyView.
This study examined the relationship between aortic arch stiffness and lung function in aging mice. Multiple linear regression modeling showed moderate to strong correlations between the rise in aortic arch stiffness and changes in lung function as the mice progressively aged.
Ayman Isbatan, Samuel M. Lee, Ali Imran Sarwar, Yuxing Yuan, Sunny Chen, Maricela Castellon, Dan A. Marian, Richard D. Minshall, Jie Tian, Irena Levitan, Jiwang Chen   +10 more
wiley   +1 more source

Ultrasonic Doppler measurement of renal artery blood flow [PDF]

Studies were made of (1) blood flow redistribution during lower body negative pressure (LBNP), (2) the profile of blood flow across the mitral annulus of the heart (both perpendicular and parallel to the commissures), (3) testing and evaluation of a ...
Beaver, W. L., Freund, W. R., Meindl, J. D.   +2 more
core   +1 more source

Transcatheter aortic valve replacement in patients with a pre-existing prosthetic mitral valve: a single center experience with two cases

The Egyptian Heart Journal
Background The performance of transcatheter aortic valve replacement (TAVR) in patients with pre-existing prosthetic mitral valves is technically challenging due to the potential interference between both prosthetic devices.
Oyewole A. Kushimo, Mitendra S. Yadav, Purneshwar Pandey, Santosh Singh, Viveka Kumar   +4 more
doaj   +1 more source

Betulin Protects Against Cardiac Hypertrophy by Improving AMPK/Nrf2‐Dependent Mitochondrial Function

Phytotherapy Research, EarlyView.
Betulin effectively mitigates pressure overload‐induced cardiac hypertrophy in both Ang II‐infused and TAC‐operated mice. Mechanistically, betulin activated AMPK phosphorylation, promoted Nrf2 nuclear translocation, and upregulated antioxidant genes (HO‐1 and NQO‐1), thereby restoring mitochondrial function in cardiomyocytes.
Bei Zheng, Mingyang He, Haiying Wu, Tianjie Zhang, Yuxia Jiang, Chuanwei Xin, Meiling Zhang, Jiaqi He, Lulu Zheng   +8 more
wiley   +1 more source