American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen +5 more
wiley +1 more source
An intelligent nanoreservoir system promotes heart valve regeneration via ROS scavenging and immunomodulation. [PDF]
Bioact MaterFan P +14 more
europepmc +1 more source
Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin +4 more
wiley +1 more source
ScienCrown Valve: A Novel Transcatheter Heart Valve for Concurrent Aortic and Mitral Valve-in-Valve Implantation in Bioprosthetic Degeneration. [PDF]
Anatol J CardiolDing JD +5 more
europepmc +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Functional Performance of 2 Different Transcatheter Heart Valve Models as Valve-in-Valve Before and After Expansion of the Inspiris Resilia: An In Vitro Study. [PDF]
Interdiscip Cardiovasc Thorac SurgSadat N, Scharfschwerdt M, Ensminger S.
europepmc +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Options for pediatric heart valve replacement. [PDF]
Future CardiolContorno E +8 more
europepmc +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Evaluation and comparison of inflammatory and albumin-based markers in left-sided mechanical heart valve thrombosis. [PDF]
J Cardiovasc Thorac ResYılmaz C +8 more
europepmc +1 more source