ABSTRACT Bardet–Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, rod‐cone dystrophy, polydactyly, developmental delay, renal dysfunction, and genitourinary abnormalities. We report the case of a 27‐year‐old female with previously undiagnosed BBS who presented with acute kidney injury precipitated by acute ...
Aqeel Abbas +8 more
wiley +1 more source
Heartbeat: a multimodal dataset of fetal echocardiography and clinical metadata for early detection of congenital heart disease. [PDF]
Rodríguez S +22 more
europepmc +1 more source
Accuracy of fetal echocardiography diagnosis and anticipated perinatal and early postnatal care in congenital heart disease in mid-gestation. [PDF]
Nurmi MO +3 more
europepmc +1 more source
ABSTRACT Aortic dissection during pregnancy is rare but potentially catastrophic. Acute Type A aortic dissection generally requires urgent surgical repair. When visceral malperfusion is present, however, the optimal sequence of interventions may be complex, particularly when pregnancy and recent cesarean delivery increase operative risk.
Tam Le, Steven Chok, Khuram Khan
wiley +1 more source
Does Maternal Smoking Increase the Risk of Congenital Heart Disease? Insights from a Single-Center Fetal Echocardiography Study. [PDF]
Kavgacı A, Kaya Ö, Örün UA, Arı ME.
europepmc +1 more source
Novel and flexible ultrasound simulation with smartphones and tablets in fetal echocardiography. [PDF]
Hartmann TJ +8 more
europepmc +1 more source
Coexistence of Ebstein Anomaly and Cerebral Cavernous Malformation: A Case Report
ABSTRACT In most patients who have Ebstein anomaly (EA), neurological symptoms are either associated with thromboembolic episodes or due to arrhythmic complications. Cerebral cavernous malformation (CCM) is a vascular anomaly made up of sinusoidally dilated blood vessels, often presenting with seizure activity or intracranial bleeding.
Nazmin Ahmed +5 more
wiley +1 more source
Automated and accurate view classification of fetal echocardiography using convolutional neural networks. [PDF]
Shi J +17 more
europepmc +1 more source
Factors causing timely referral for fetal echocardiography in the final diagnosis of congenital heart malformations: A cross-sectional study. [PDF]
Barati M +4 more
europepmc +1 more source
LAPTM5 protects the heart from ischemia/reperfusion injury by promoting mitophagy and preserving mitochondrial homeostasis. Mechanistically, LAPTM5 recruits NEDD4 through its PY3 motif, facilitates NEDD4–LC3 complex formation, and promotes NEDD4‐dependent p62 ubiquitination to support mitochondrial clearance.
Yadan Zhang +9 more
wiley +1 more source

