Journal ArticleJACC Heart Fail · December 2024
BACKGROUND: Heart transplantation following donation after circulatory death (DCD HT) has short-term survival outcomes comparable to donation after brain death and has led to a significant increase in transplantation volume. The U.S. experience with the no ...
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Journal ArticleCardiol Young · September 2023
BACKGROUND: The optimal timing of surgical repair for infants with complete atrioventricular canal defect remains controversial, as there are risks to both early and late repair. We address this debate by investigating the association of various risk facto ...
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Journal ArticleSemin Thorac Cardiovasc Surg · 2023
We developed a technique for the Norwood operation utilizing continuous perfusion of the head, heart, and lower body at mild hypothermia named Sustained Total All-Region (STAR) perfusion. We hypothesized that STAR perfusion would be associated with shorter ...
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Journal ArticleJ Card Surg · December 2022
BACKGROUND: Heart donation after donor brain death from cardiac arrest despite successful resuscitation may be associated with worse recipient outcomes due to potential graft ischemia or underlying rhythmic/structural defects. However, selected grafts from ...
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Chapter · January 1, 2021
Acute aortic syndromes are part of a wide spectrum of arterial and aortic diseases. This life-threatening group of disorders requires rapid diagnosis and treatment to reduce the associated high mortality and morbidity. Regardless of whether definitive surg ...
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Journal ArticleMolecular genetics and metabolism · March 2016
Maple syrup urine disease (MSUD) is an inherited disorder of branched chain ketoacid (BCKA) oxidation associated with episodic and chronic brain disease. Transplantation of liver from an unrelated deceased donor restores 9-13% whole-body BCKA oxidation cap ...
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Journal ArticleThe Journal of clinical endocrinology and metabolism · August 2015
Context3-β-hydroxysteroid dehydrogenase (HSD3B2) deficiency accounts for less than 5% of congenital adrenal hyperplasia worldwide, but is relatively common among the Old Order Amish of North America due to a HSD3B2 c.35G>A founder mutation.Obj ...
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Journal ArticleAmerican journal of human genetics · January 2015
CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygo ...
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Journal ArticleHuman molecular genetics · December 2014
We conducted blinded psychiatric assessments of 26 Amish subjects (52 ± 11 years) from four families with prevalent bipolar spectrum disorder, identified 10 potentially pathogenic alleles by exome sequencing, tested association of these alleles with clinic ...
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