Results 51 to 60 of about 44,851 (309)

Leonurine Ameliorates Doxorubicin‐Induced Cardiotoxicity via STING/NF‐κB/NLRP3 Inflammasome Signaling Pathway

Advanced Science, EarlyView.
ABSTRACT Doxorubicin‐induced cardiomyopathy (DIC) remains a dose‐limiting clinical challenge. This study reveals that cardiac vascular endothelial cells (CVECs) act as initial sensors of doxorubicin cardiotoxicity: circulating doxorubicin activates the cGAS‑STING pathway in CVECs, triggering NLRP3 inflammasome‑mediated pyroptosis and release of ...
Wang Jun, Chen Xiaoyang, Xu Jianglin, Yang Zhi, Tao Meijiao, He Jiale, Zhao Jiangfeng, Hei Xuanding, Xu Xuegong, Wang Wei, Li Chun   +10 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Amplatzer device closure of an inferior venosus atrial septal defect after surgical closure of a secundum atrial septal defect [PDF]

, 2004
This article presents a patient who had transcatheter closure of a low atrial septal defect which was overlooked during surgical closure of a secundum atrial septal defect.
DeGiovanni, Joseph V., Grech, Victor E., Falzon, A.   +2 more
core  

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Patient with Ebstein anomaly and Down syndrome. Strange combination

Acta Pediátrica de México, 2014
The most common congenital heart diseases in children with Down syndrome are atrial or ventricular septal defects, patent ductus arteriosus or endocardial cushion defects.
Jesús de Rubens-Figueroa, Bruno Marino   +1 more
doaj   +1 more source

Accurate Detection of Septal Defects With Fetal Ultrasonography Images Using Deep Learning-Based Multiclass Instance Segmentation

IEEE Access, 2020
Accurate screening for septal defects is important for supporting radiologists' interpretative work. Some previous studies have proposed semantic segmentation and object detection approaches to carry out fetal heart detection; unfortunately, the models ...
Siti Nurmaini, Muhammad Naufal Rachmatullah, Ade Iriani Sapitri, Annisa Darmawahyuni, Adithia Jovandy, Firdaus Firdaus, Bambang Tutuko, Rossi Passarella   +7 more
doaj   +1 more source

Role of intergenic interactions between cytokine and Toll-like receptor genes in the etiology of congenital heart defects

Кардиоваскулярная терапия и профилактика, 2023
The incidence of congenital heart defects (CHDs) reaches 1% of all newborns. Of particular importance is the group of heart defects without a family history and chromosomal disorders, which makes up>80% of all CHDs.
A. V. Shabaldin, S. A. Shmulevich, A. V. Sinitskaya, R. Yu. Zamaraev   +3 more
doaj   +1 more source

Real-time three-dimensional ultrasound : a valuable new tool in preoperative assessment of complex congenital cardiac disease [PDF]

, 2003
Evaluating complex cardiac defects in small children preoperatively requires multiple diagnostic procedures including echocardiography, and also invasive methods such as cardiac catheterisation, computer-tomography and magnetic resonance imaging.
Dalla Pozza, Robert, Romer, U., Netz, Heinrich, Kozlik-Feldmann, Rainer   +3 more
core  

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period.

, 2006
The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal ...
Fadi C., Ghina M., Makhoul G., Fadi B., Joseph R., Hala T., May K., Yunis, Khalid, Rashkidi, Joseph, Chamseddine, Fadi, Kassar, May, Khalid Y., Tamim, Hala, Mumtaz, Ghina, Bitar, Fadi, Makhoul, Ghaith   +15 more
core   +1 more source