Results 31 to 40 of about 54,938 (253)
Flipper coil closure of patent ductus arteriosus [PDF]
, 2007 Transcatheter closure of patent ductus arteriosus is now a well established therapeutic option. In this paper, we illustrate step by step the technique of Flipper coil closure of small (
DeGiovanni, Joseph V., Grech, Victor E.
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
DEVICE CLOSURE OF LARGE PDA WITHOUT ARTERIAL PUNCTURE IN 40 DAYS OLD INFANT FAILING TO THRIVE
Pakistan Armed Forces Medical Journal, 2021 Patent ductus arteriosus (PDA) is one of the common cardiac lesion present at birth. This communication is essential in fetal life and closes at birth with few exceptions which result in.
Amjad Mahmood +7 more
doaj +2 more sources
Morphology of the patent arterial duct : features relevant to treatment [PDF]
, 2008 Patent ductus arteriosus (PDA), one of the most common congenital heart defects, is an abnormal persistence of a patent lumen in the arterial duct due to an arrest of the natural process of closure after it has served its function as a vital channel ...
Ho, Siew Yen +2 more
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Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Different transcatheter strategies for aortic coarctation associated with patent ductus arteriosus
Indian Heart Journal, 2012 Background: Older patients with combination of aortic coarctation and large patent ductus arteriosus can be managed with transcatheter interventions. The strategies depend on anatomy of coarctation and size of ductus arteriosus. Methods: We present three
Anil Kumar Singhi, Kothandam Sivakumar
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source
Pericardial cyst in a one-year-old boy with ventricular septal defect and patent ductus arteriosus
The Egyptian Heart Journal, 2022 Background Pericardial cysts are rare, with the most common etiology being congenital. Ventricular septal defect is the most common congenital heart disease in children.
Nirmal Panthee +6 more
doaj +1 more source
Patent ductus arteriosus as rare cause of sudden death. Case report of a 4-day-old infant [PDF]
, 2015 Ein persistierender Ductus arteriosus (Ductus Botalli) ist seit Jahren als Ursache eines plötzlichen und unerwarteten Neugeborenentods und pulmonaler Hämorrhagien identifiziert.
Albalooshi, Y. +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source